id name category provided_by subsets iri xrefs synonym description HP:0011770 Tertiary hyperparathyroidism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011770 SNOMEDCT_US:78200003|UMLS:C0271858 A type of hyperparathyroidism that occurs following kidney transplantation, which is a treatment for secondary hyperparathyroidism. Although kidney transplantation leads to a normalization of serum calcium and parathyroid hormone in most patients. The state of persistent hypercalcemia and hyperparathyroidism is referred to as tertiary hyperparathyroidism. HP:0009450 Broad proximal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009450 UMLS:C4024355 Broad innermost bone of middle finger Increased width of the proximal phalanx of the 3rd finger. HP:0011771 Autoimmune hypoparathyroidism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011771 SNOMEDCT_US:75316000|UMLS:C0271865 A type of hypoparathyroidism with circulating antiparathyroid or anti-calcium sensing receptor antibodies indicative of autoimmunity. HP:0011772 Abnormal thyroid morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011772 UMLS:C4023195 Abnormal shape of thyroid gland|Abnormality of thyroid morphology A structural abnormality of the thyroid gland. HP:0011773 Uninodular goiter biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011773 UMLS:C0342205|SNOMEDCT_US:237569006 Uninodular goitre Enlargement of the thyroid gland related to a singular nodule in the thyroid gland. HP:0011774 Thyroid follicular adenoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011774 SNOMEDCT_US:255034006|MSH:D013964|UMLS:C0151468|SNOMEDCT_US:255033000 HP:0011775 Thyroid macrofollicular adenoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011775 UMLS:C4023194 HP:0011776 Thyroid microfollicular adenoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011776 UMLS:C4023193 HP:0010445 Primum atrial septal defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010445 MSH:C548006|Fyler:1110|UMLS:C0741296|UMLS:C0344735|SNOMEDCT_US:253373002|MSH:C536112 Primum atrioventricular canal defect|Septum primum defect|Ostium primum atrial septal defect|Atrial septal defect, primum type An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum. HP:0010444 Pulmonary insufficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010444 SNOMEDCT_US:91434003|UMLS:C0034088|MSH:D011665 Puolmonary valve insufficiency|Pulmonary incompetence The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole. HP:0010443 Bifid femur biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010443 UMLS:C4023824 Notched thighbone|Split thighbone A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side. HP:0010442 Polydactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010442 UMLS:C0152427|SNOMEDCT_US:367506006|MSH:D017689|Fyler:4103 More than five fingers or toes on hands or feet A congenital anomaly characterized by the presence of supernumerary fingers or toes. HP:0010441 Ectopic accessory finger-like appendage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010441 UMLS:C4023825 In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the ulnar side of the hand, next to the little finger), preaxial (on the radial side of the hand, next to the thumb) or mesoaxial (somewhere central, between thumb and little finger), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200). HP:0010440 Ectopic accesory toe-like appendage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010440 UMLS:C4023826 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). HP:0009449 obsolete Hypoplastic/small phalanges of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009449 HP:0010448 Colonic atresia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010448 UMLS:C0266190|SNOMEDCT_US:37054000|MSH:C562562 Atresia of the large intestine|Large intestinal 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. HP:0008117 Shortening of the talar neck biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008117 UMLS:C1843985 HP:0009448 obsolete Aplasia of the phalanges of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009448 HP:0010447 Anal fistula biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010447 SNOMEDCT_US:72779005|UMLS:C0205929|MEDDRA:10002156|MSH:D012003 Fistula in ano An abnormal connection between the epithelialised surface of the anal canal and the perianal skin. HP:0008119 Deformed tarsal bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008119 UMLS:C1856746 Deformed ankle bones HP:0010446 Tricuspid stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010446 EPCC:06.01.92|MSH:D014264|SNOMEDCT_US:49915006|ICD-10:Q22.4|UMLS:C0040963 A narrowing of the orifice of the tricuspid valve of the heart. HP:0009445 Symphalangism of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009445 UMLS:C4024358 Fused middle finger Fusion of two or more bones of the 3rd finger. HP:0008114 Metatarsal diaphyseal endosteal sclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008114 UMLS:C1840420 Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones. HP:0011777 Thyroid papillary adenoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011777 UMLS:C4023192 HP:0009444 Patchy sclerosis of 3rd finger phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009444 UMLS:C4021471 Patchy sclerosis of middle finger phalanges|Uneven increase in bone density in middle finger bone|Patchy sclerosis of the phalanges of the 3rd finger Uneven (irregular) increase in bone density of one or more of the phalanges of the third finger. HP:0008113 Multiple plantar creases biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008113 UMLS:C1861873 HP:0011778 Thyroid atypical adenoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011778 UMLS:C4023191 HP:0009447 Aplasia/Hypoplasia of the phalanges of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009447 UMLS:C4024356 Short middle finger phalanges|Hypoplastic middle finger phalanges|Absent/small middle finger bone|Small middle finger phalanges|Absent/underdeveloped middle finger bone HP:0011779 Anaplastic thyroid carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011779 SNOMEDCT_US:255031003|MSH:D065646|UMLS:C0238461 HP:0008116 Flexion limitation of toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008116 UMLS:C4024731 Limitation of the ability to bend the toes. HP:0009446 Triangular shaped phalanges of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009446 UMLS:C4024357 Triangular shaped bone of the middle finger Triangular shaped phalanges of the 3rd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. HP:0008115 Clinodactyly of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008115 UMLS:C4280416|UMLS:C4021555 Curvature of 3rd toe|3rd toe clinodactyly Bending or curvature of a third toe in the tibial direction (i.e., towards the big toe). HP:0008110 Equinovarus deformity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008110 SNOMEDCT_US:397932003|UMLS:C0009081|MSH:D003025|SNOMEDCT_US:249808002 HP:0009441 Bullet-shaped phalanges of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009441 UMLS:C4024360 Bullet-shaped bones of middle finger A third finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. HP:0009440 Broad phalanges of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009440 UMLS:C4021473 Wide bones of middle finger|Wide/broad middle finger phalanges Increased width of the phalanges of the 3rd finger. HP:0008112 Plantar flexion contractures biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008112 UMLS:C1861239 HP:0009443 Osteolytic defects of the phalanges of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009443 UMLS:C4021472 Lytic defects of middle finger phalanges Dissolution or degeneration of bone tissue of the phalanges of the 3rd finger. HP:0009442 Curved phalanges of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009442 UMLS:C4024359 Curved bones of middle finger Curved appearance of the phalanges of the 3rd finger. HP:0008111 Broad distal hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008111 UMLS:C1863403 Broad distal big toe HP:0011760 Pituitary growth hormone cell adenoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011760 UMLS:C4018860 Pituitary somatotropinoma A type of pituitary adenoma that produces growth hormone. HP:0009461 Short 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009461 UMLS:C4021469 Short middle finger|Short 3rd finger|Hypoplastic/small 3rd finger Hypoplastic/small 3rd (middle) finger. HP:0011761 Pituitary null cell adenoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011761 SNOMEDCT_US:254962005|UMLS:C0338078 Non-functional pituitary adenoma|Silent pituitary adenoma|Clinically silent pituitary adenoma|Hormonally silent pituitary adenoma A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess. HP:0009460 Aplasia of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009460 UMLS:C4024346 Absent middle finger Absent 3rd finger. HP:0011762 Pituitary thyrotropic cell adenoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011762 UMLS:C4021121 Pituitary thyrotropinoma A type of pituitary adenoma that produces thyroid stimulating hormone (TSH). HP:0011763 Pituitary carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011763 SNOMEDCT_US:128665000|SNOMEDCT_US:254955001|MSH:D010911|UMLS:C0346300 A pituitary tumor with subarachnoid, brain, or systemic metastasis. The diagnosis of a pituitary carcinoma requires evidence of metastatic disease, either outside the central nervous system (CNS) or as separate noncontiguous foci within the CNS. HP:0011764 Pituitary spindle cell oncocytoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011764 UMLS:C4023200 A spindled-to-epithelioid, oncocytic, nonendocrine neoplasm of the anterior hypophysis that manifests in adults and follows a benign clinical course. Pituitary spindle cell oncocytomas are firm, fibrous, and adherent to surrounding structures and are highly vascular. HP:0011765 obsolete Ectopic anterior pituitary biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011765 HP:0010434 Aplasia of the middle phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010434 UMLS:C4023828 Absent middle bone of 2nd toe HP:0010433 Short distal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010433 UMLS:C4021267 Short distal phalanx of the second toe|Short outermost bone of the 2nd toe|Hypoplastic/small distal phalanx of the 2nd toe Reduced length of the distal phalanx of the second toe as a result of developmental hypoplasia. HP:0010432 Absent distal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010432 UMLS:C4021268 Absent outermost bone of the 2nd toe|Aplasia of the distal phalanx of the 2nd toe|Absent distal phalanx of the second toe Absence of distal phalanx of the second toe as a result of developmental aplasia. HP:0010431 Short phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010431 UMLS:C4021269 Short phalanx of the second toe|Hypoplastic/small phalanges of the 2nd toe|Short 2nd toe bone Reduced length of one or more phalanx of second toe as a result of developmental hypoplasia. HP:0010430 Aplasia of the phalanges of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010430 UMLS:C4023829 Absent 2nd toe bones HP:0010438 Abnormal ventricular septum morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010438 Fyler:1815|UMLS:C4021264 Abnormality of the ventricular septum|Abnormal interventricular septum morphology|Ventricular septum abnormality A structural abnormality of the interventricular septum. HP:0010437 Short proximal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010437 UMLS:C4021265 Hypoplastic/small proximal phalanx of the 2nd toe|Short proximal phalanx of the second toe|Short innermost 2nd toe bone Reduced length of the proximal phalanx of second toe as a result of developmental hypoplasia. HP:0009459 Short proximal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009459 UMLS:C4021470 Short proximal phalanx of the third finger|Small proximal middle-finger phalanx|Short proximal middle-finger phalanx|Hypoplastic/small proximal phalanx of the 3rd finger|Short innermost bone of middle finger Hypoplasia (congenital reduction in size) of the proximal phalanx of the third finger. HP:0010436 Aplasia of the proximal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010436 UMLS:C4023827 Absent innermost 2nd toe bone HP:0010435 Short middle phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010435 UMLS:C4021266 Short middle 2nd toe bone|Short middle phalanx of the second toe|Hypoplastic/small middle phalanx of the 2nd toe Reduced length of the middle phalanx of second toe as a result of developmental hypoplasia. HP:0011766 Abnormality of the parathyroid morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011766 UMLS:C4023199 A structural abnormality of the parathyroid gland. HP:0009456 Triangular shaped proximal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009456 UMLS:C4024349 Triangular shaped innermost bone of middle finger Triangular shaped proximal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. HP:0008125 Second metatarsal posteriorly placed biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008125 UMLS:C1859224 HP:0009455 Symphalangism affecting the proximal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009455 UMLS:C4024350 Fused innermost bone of middle finger Fusion of the proximal phalanx of the 3rd finger with another bone. HP:0011767 Abnormality of the parathyroid physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011767 UMLS:C4023198 Parathyroid issue|Parathyroid dysfunction A functional abnormality of the parathyroid gland. HP:0008124 Talipes calcaneovarus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008124 SNOMEDCT_US:30449003|UMLS:C0265646|MSH:D000070558 A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus. HP:0008127 Bipartite calcaneus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008127 UMLS:C1835574 Extra calcaneal ossification center|Delayed coalescence of calcaneal ossification centers|Delayed coalescence of bipartite calcanei|Delayed fusion of bipartite calcanei|Double calcaneal ossification center A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification. HP:0011768 Parathyroid dysgenesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011768 UMLS:C4023197 Abnormal embryonic development of the parathyroid gland. HP:0009458 Aplasia of the proximal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009458 UMLS:C4024347 Absent innermost bone of middle finger Absence of the proximal phalanx of the 3rd finger. HP:0009457 Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009457 UMLS:C4024348 Absent/underdeveloped innermost bone of middle finger|Absent/small innermost bone of middle finger HP:0011769 Ectopic parathyroid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011769 UMLS:C4023196 An abnormal anatomical location of the parathyroid gland. HP:0009452 Curved proximal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009452 UMLS:C4024353 Curved innermost bone of middle finger Curved appearance of the proximal phalanx of the 3rd finger. HP:0009451 Bullet-shaped proximal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009451 UMLS:C4024354 Bullet-shaped innermost bone of the middle finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 3rd finger is affected. HP:0009454 Patchy sclerosis of the proximal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009454 UMLS:C4024351 Uneven increase in bone density in the innermost bone of the middle finger Uneven (irregular) increase in bone density of the proximal phalanx of the third finger. HP:0009453 Osteolytic defects of the proximal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009453 UMLS:C4024352 Dissolution or degeneration of bone tissue of the proximal phalanx of the 3rd finger. HP:0008122 Calcaneonavicular fusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008122 UMLS:C4024730 Synostosis of the calcaneus with the navicular bone. HP:0011750 Neoplasm of the anterior pituitary biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011750 NCIT:C3262|UMLS:C4023205 Neoplasm of the adenohypophysis|Neoplasm of the pars anterior A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland. HP:0011751 Abnormality of the posterior pituitary biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011751 UMLS:C4023204 Abnormality of the neurohypophysis An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis. HP:0011752 Neoplasm of the posterior pituitary biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011752 NCIT:C3262|UMLS:C1334957 Neoplasm of the neurohypophysis The presence of a neoplasm (tumour) in the neurohypophysis, which is also known as the posterior lobe of the hypophysis. HP:0011753 Posterior pituitary dysgenesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011753 UMLS:C4021123 Posterior pituitary dysplasia|Neurohypophysis dysplasia Abnormal development of the neurohypophysis during embryonic growth and development. HP:0011754 Pituicytoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011754 UMLS:C2986550|ICD-O:9432/1|SNOMEDCT_US:450901008|SNOMEDCT_US:608817003 A solid, low grade, spindle cell, glial neoplasm of adults that originates in the neurohypophysis or infundibulum. Clinical signs and symptoms include visual disturbance, headache and features of hypopituitarism. Pituicytomas are well-circumscribed, solid masses that can measure up to several centimeters. Histologically, they show a compact architecture consisting of elongate, bipolar spindle cells arranged in interlacing fascicles or assuming a storiform pattern. HP:0033103 Elevated circulating CHI3L1 level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033103 Elevated circulating chitinase 3-like 1 level|Elevated circulating YKL40 level Increased concentration of chitinase 3-like 1 (CHI3L1) in the blood circulation. HP:0010423 Partial duplication of the proximal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010423 UMLS:C4021270 Partial duplication of the proximal phalanx of the second toe|Partial duplication of the innermost 2nd toe bone Partial duplication of proximal phalanx of second toe. HP:0033102 Monkey wrench femoral neck biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033102 Monkey wrench appearance of femoral neck|Swedish key appearance of femoral neck|Monkey wrench configuration of the proximal femur|Swedish key configuration of the proximal femur The femoral neck region shows medial metaphyseal beaking and a significant enlargement of the lesser trochanter (with some enlargement also of the greater trochanter), producing a monkey wrench (Swedish key) configuration of the proximal femur. A monkey wrench refers to a type of adjustable wrench with one fixed and one adjustable jaw at right angles to a straight handle. HP:0010422 Complete duplication of the proximal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010422 UMLS:C4021271 Complete duplication of the proximal phalanx of the second toe|Complete duplication of the innermost 2nd toe bone Complete duplication of proximal phalanx of second toe. HP:0010421 Duplication of the distal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010421 UMLS:C4021272 Duplication of the outermost bone of the 2nd toe|Partial/complete duplication of the distal phalanx of the 2nd toe Partial or complete duplication of the distal phalanx of second toe. HP:0033105 Interhypothalamic Adhesion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033105 Hypothalamic adhesion An abnormal parenchymal band connecting the medial margins of the left and right hypothalami across the third ventricle. HP:0033104 Inappropriate absence of fever biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033104 Failure to develop fever in the presence of an infection that normally would be expected to elicit a febrile response. HP:0010420 Triangular shaped distal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010420 UMLS:C4023836 Triangular shaped outermost 2nd toe bone HP:0033101 Elevated urine aconitic acid level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033101 An abnormally increased level of aconitic acid in the urine. HP:0033100 Increased proteinogenic amino acid level in urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033100 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. HP:0010429 Complete duplication of the phalanges of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010429 UMLS:C4023830 Complete duplication of the 2nd toe bones Complete duplication of a phalanx of second toe. HP:0010428 Partial duplication of phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010428 UMLS:C4023831 Partial duplication of 2nd toe bone Partial duplication of a phalanx of second toe. HP:0010427 Partial duplication of the middle phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010427 UMLS:C4023832 Partial duplication of the middle bone of the 2nd toe Partial duplication of middle phalanx of second toe. HP:0033107 Abnormal circulating proteinogenic amino acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033107 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. HP:0009427 Triangular shaped distal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009427 UMLS:C4024370 Triangular shaped outermost bone of the middle finger Triangular shaped distal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. HP:0010426 Complete duplication of the middle phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010426 UMLS:C4023833 Complete duplication of the middle bone of the 2nd toe Complete duplication of middle phalanx of second toe. HP:0009426 Distal/middle symphalangism of 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009426 UMLS:C4021477 Fused outermost and middle bones of middle finger|Symphalangism of the distal and middle phalanges of the 3rd finger Fusion of the terminal/distal and middle phalanges of the 3rd finger. HP:0033106 Elevated D-dimers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033106 An increased concentration of D-dimers, a marker of fibrin degradation, in the blood circulation. HP:0010425 Partial duplication of the distal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010425 UMLS:C4023834 Partial duplication of the outermost bone of the 2nd toe Partial duplication of the distal phalanx of second toe. HP:0009429 Aplasia of the distal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009429 UMLS:C4024368 Absent of the outermost bone of the middle finger Absence of the distal phalanx of the middle (3rd) finger. HP:0033109 Abnormal circulating non-proteinogenic amino acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033109 Any deviation from the normal concentration in the blood circulation of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids. HP:0009428 Curved distal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009428 UMLS:C4024369 Curved outermost bone of the 3rd finger Curved appearance of the distal phalanx of the 3rd finger. HP:0033108 Abnormal circulating proteinogenic amino acid derivative concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033108 Any deviation from the normal concentration in the blood circulation of a compound that is derived from an amino acid. HP:0010424 Complete duplication of the distal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010424 UMLS:C4023835 Complete duplication of the outermost bone of the 2nd toe Complete duplication of the distal phalanx of second toe. HP:0011755 Ectopic posterior pituitary biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011755 UMLS:C4053775|SNOMEDCT_US:715727009|UMLS:C3279571 Ectopic neurohypophysis An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis. HP:0009423 Bullet-shaped distal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009423 UMLS:C4024372 Bullet-shaped outermost bone of the middle finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 3rd finger is affected. HP:0011756 Posterior pituitary agenesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011756 UMLS:C4023203 Neurohypophysis agenesis Absence of the neurohypophysis owing to a developmental defect. HP:0009422 Broad distal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009422 UMLS:C4024373 Broad outermost bone of middle finger Increased width of the distal phalanx of the 3rd finger. HP:0009425 Patchy sclerosis of the distal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009425 UMLS:C4024371 Uneven increase in bone density in the outermost bone of the 3rd finger Uneven (irregular) increase in bone density of the distal phalanx of the third finger. HP:0011757 Posterior pituitary hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011757 UMLS:C4023202 Neurohypophysis hypoplasia Underdevelopment of the neurohypophysis. HP:0009424 Osteolytic defects of the distal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009424 UMLS:C4021478 Lytic defect of terminal phalanx of middle finger Dissolution or degeneration of bone tissue of the distal phalanx of the 3rd finger. HP:0011758 Pituitary acidophilic stem cell adenoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011758 UMLS:C4023201 HP:0011759 Pituitary gonadotropic cell adenoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011759 UMLS:C4021122 Pituitary gonadotropinoma A type of pituitary adenoma that produces gonadotropins. HP:0009421 Aplasia/Hypoplasia of the distal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009421 UMLS:C4024374 Absent/small outermost middle finger bone|Absent/underdeveloped outermost middle finger bone HP:0009420 Triangular epiphyses of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009420 UMLS:C4021479 Delta-shaped epiphyses of the 3rd finger|Triangular end part of middle finger bone A triangular appearance of the epiphyses of the 3rd finger of the hand. HP:0011740 Glucocortocoid-insensitive primary hyperaldosteronism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011740 UMLS:C4020742|UMLS:C4023208 Familial primary hyperaldosteronism type 2 A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids. HP:0011741 Secondary hyperaldosteronism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011741 SNOMEDCT_US:67805000|UMLS:C0271728 Hyperreninemic hyperaldosteronism A form of hyperaldosteronism caused by abnormally increased renin levels. HP:0011742 Ectopic adrenal gland biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011742 SNOMEDCT_US:49494003|UMLS:C0266275 Abnormal adrenal gland position Abnormal anatomical location of the adrenal gland. HP:0011743 Adrenal gland agenesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011743 MSH:C538429|UMLS:C0266273|SNOMEDCT_US:702615004|SNOMEDCT_US:83190008 Absent development of the adrenal gland. HP:0033114 Quadruple gallop rhythm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033114 A type of gallop rhytm in which both the third and the fourth sounds are present. HP:0010412 Duplication of the middle phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010412 UMLS:C4021273 Partial/complete duplication of the middle phalanx of the 2nd toe|Duplication of middle bone of 2nd toe Partial or complete duplication of middle phalanx of second toe. HP:0033113 Gallop rhythm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033113 Triple rhythm In the normal heart cycle, two heart sounds can be heard by auscultation per cycle: S1 and S2. A gallop rhythm refers to the presence of three or four heart sounds per cardiac cycle, which is said to resemble the gallop of a horse. HP:0010411 Triangular shaped middle phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010411 UMLS:C4023844 Triangular shaped middle bone of 2nd toe HP:0010410 Symphalangism affecting the middle phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010410 UMLS:C4023845 Fused middle bone of 2nd toe HP:0033116 Duodenal gastric metaplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033116 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. HP:0033115 Elevated circulating tenascin-C level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033115 Abnormally increased concentration of tenascin-C in the blood circulation. HP:0033110 Elevated circulating alpha-aminobutyric acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033110 Elevated circulating homoalanine concentration An abnormally increased level of alpa-aminobutyric acid in the blood circulation. Alpha-aminobutyric acid alpha-amino acid that is butyric acid bearing a single amino substituent located at position 2. HP:0033112 Elevated circulating apolipoprotein C-III concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033112 Elevated apolipoprotein C-III level|Elevated APOC3 level An increased concentration in blood of apolipoprotein C-III, a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons. HP:0033111 3-hydroxyisovaleric aciduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033111 Increased urine 3-hydroxyisovaleric acid level Concentration of 3-hydroxyisovaleric acid in the urine above the normal range. HP:0010419 Symphalangism affecting the distal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010419 UMLS:C4023837 Fused outermost bone of the 2nd toe HP:0010418 Patchy sclerosis of the distal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010418 UMLS:C4023838 Uneven increase in bone density in the outermost bone of the 2nd toe HP:0010417 Osteolytic defects of the distal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010417 UMLS:C4023839 HP:0009438 Absent middle phalanx of 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009438 UMLS:C4021475 Aplasia of the middle phalanx of the 3rd finger|Absent middle phalanx of middle finger|Absent middle bone of middle finger Absence of the middle phalanx of the middle (3rd) finger. HP:0008107 Plantar crease between first and second toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008107 UMLS:C1867132 The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot located between the first and second toe. HP:0010416 Curved distal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010416 UMLS:C4023840 Curved outermost bone of the 2nd toe A deviation from the normal straight form of the distal phalanx of the 2nd toe. HP:0033118 Abnormal right ventricular function biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033118 Anomalous physiology (function) of the right ventricle. HP:0010415 Bullet-shaped distal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010415 UMLS:C4023841 Bullet-shaped outermost bone of the 2nd toe An abnormal morphology of the distal phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. HP:0009437 Aplasia/Hypoplasia of the middle phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009437 UMLS:C4024361 Absent/small middle bone of the middle finger|Absent/underdeveloped middle bone of the middle finger HP:0033117 Duodenitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033117 Inflammation of the lining of the upper small intestine (duodenum). HP:0010414 Broad distal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010414 UMLS:C4023842 Wide outermost bone of the 2nd toe|Broad outermost bone of the 2nd toe HP:0008108 Advanced tarsal ossification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008108 UMLS:C1849293|UMLS:C4280417 Precociously ossified tarsal bones|Accelerated ankle bone maturation Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. HP:0010413 Aplasia/Hypoplasia of the distal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010413 UMLS:C4023843 Absent/small outermost 2nd toe bone|Absent/underdeveloped outermost 2nd toe bone HP:0009439 Short middle phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009439 UMLS:C4021474 Short middle bone of middle finger|Hypoplastic/small middle phalanx of the 3rd finger Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger. HP:0033119 Elevated right ventricular systolic pressure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033119 Elevation of right ventricular systolic pressure (RVSP) above normal limits. In adults, RVSP is normally 20-30 mmHg. HP:0011744 Secondary hypercortisolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011744 UMLS:C4023207|UMLS:C4020741 ACTH-dependent hypercortisolemia Hypercortisolemia associated with a overproduction of ACTH (often from a tumor), leading secondarily to overproduction of cortisol. HP:0008103 Delayed tarsal ossification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008103 UMLS:C1846853|UMLS:C4280418 Delayed ankle bone maturation|Tarsal delayed ossification Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. HP:0009434 Patchy sclerosis of the middle phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009434 UMLS:C4024364 Uneven increase in bone density in the middle bone of the middle finger Uneven (irregular) increase in bone density of the middle phalanx of the third finger. HP:0009433 Osteolytic defects of the middle phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009433 UMLS:C4024365 Dissolution or degeneration of bone tissue of the middle phalanx of the 3rd finger. HP:0011745 Non-secretory adrenocortical adenoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011745 UMLS:C4021126 Non-secretory adrenal adenoma An hormonally inactive adrenocortical adenoma, that is, an adenoma that does not secrete excessive amounts of adrenal hormones. HP:0008102 Expanded metatarsals with widened medullary cavities biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008102 UMLS:C1969289 HP:0009436 Triangular shaped middle phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009436 UMLS:C4024362 Triangular shaped middle bone of the middle finger Triangular shaped middle phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. HP:0011746 Secretory adrenocortical adenoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011746 UMLS:C4021125 Secretory adrenal adenoma An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones. HP:0011747 Abnormality of the anterior pituitary biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011747 MSH:D010900|SNOMEDCT_US:399244003|UMLS:C0032002|UMLS:C4023206 Pituitary disease An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland. HP:0009435 Symphalangism of middle phalanx of 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009435 UMLS:C4024363 Fused middle bone of middle finger Fusion of the middle phalanx of the 3rd finger with another bone. HP:0009430 Broad middle phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009430 UMLS:C4021476 Broad middle bone of middle finger|Wide/broad middle phalanx of middle-finger Increased width of the middle phalanx of the 3rd finger. HP:0011748 Adrenocorticotropic hormone deficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011748 UMLS:C0342388|SNOMEDCT_US:237692001|MSH:C535668 ACTH deficiency|Corticotropin deficiency A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol. HP:0011749 Adrenocorticotropic hormone excess biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011749 UMLS:C4021124 ACTH excess Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex. HP:0009432 Curved middle phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009432 UMLS:C4024366 Curved middle bone of the middle finger Curved appearance of the middle phalanx of the 3rd (middle) finger. HP:0009431 Bullet-shaped middle phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009431 UMLS:C4024367 Bullet-shaped middle bone of middle 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. HP:0009492 Fragmentation of the epiphyses of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009492 UMLS:C4024333 Fragmentation of end part of the index finger Fragmented appearance of the epiphyses of the 2nd finger. HP:0010481 Urethral valve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010481 UMLS:C0266345|SNOMEDCT_US:297163001 The presence of an abnormal membrane obstructing the urethra. HP:0008161 Absent leukocyte alkaline phosphatase biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008161 UMLS:C4024724 Absent leukocyte ALP Alkaline phosphatase levels measured within leukocytes is below detectable levels. HP:0009491 Enlarged epiphyses of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009491 UMLS:C4024334 Enlarged end part of the index finger Abnormally large size of the epiphyses of the 2nd finger with respect to age-dependent norms. HP:0008160 3-hydroxydicarboxylic aciduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008160 UMLS:C4024725 An increase in the level of 3-hydroxydicarboxylic acid in the urine. HP:0010480 Urethral fistula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010480 UMLS:C0041970|SNOMEDCT_US:14981000 The presence of an abnormal connection between the urethra and another organ or the skin. HP:0008163 Decreased circulating cortisol level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008163 UMLS:C1836623|UMLS:C1846225|UMLS:C1833054 Low blood cortisol level|Plasma cortisol low|Low to undetectable plasma cortisol|Decreased cortisol production|Glucocorticoid insufficiency|Hypocortisolemia|Hypocortisolism Abnormally reduced concentration of cortisol in the blood. HP:0009494 Ivory epiphyses of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009494 UMLS:C4024331 Increased bone density of end part of the index finger bone Sclerosis of the epiphyses of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. HP:0009493 Irregular epiphyses of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009493 UMLS:C4024332 Irregular end part of the index finger Irregular radiographic opacity of the epiphyses of the 2nd finger. HP:0008162 Asymptomatic hyperammonemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008162 UMLS:C4021552 Hyperammonemia, asymptomatic An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy. HP:0009490 Cone-shaped epiphyses of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009490 UMLS:C4024335 Cone-shaped end part of the index finger A cone-shaped appearance of the epiphyses of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. HP:0010489 Absent palmar crease biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010489 UMLS:C4021262 Aplasia of the palmar creases|Absence of the palmar creases|Absent palm lines The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease). HP:0010488 Aplasia/Hypoplasia of the palmar creases biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010488 UMLS:C4023806 Absent/underdeveloped palm crease|Absent/small palm crease Absence or underdevelopment of the palmar creases. HP:0010487 Small hypothenar eminence biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010487 UMLS:C1861395 Hypothenar hypoplasia|Hypoplasia of the hypothenar eminence Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence. HP:0010486 Abnormality of the hypothenar eminence biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010486 UMLS:C4023807 An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger). HP:0010485 Hyperextensibility at elbow biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010485 UMLS:C4023808 The ability of the elbow joint to move beyond its normal range of motion. HP:0010484 Hypertrophy of the upper limb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010484 SNOMEDCT_US:298745009|UMLS:C0575518 Increased size of upper limb Abnormal increase in size of the upper limbs (due to an increase of the size of cells). HP:0010483 Amniotic constriction rings of arms biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010483 UMLS:C4023809 Amniotic constriction rings affecting the arms. HP:0010482 Acromelia of the upper limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010482 UMLS:C4023810 Shortening of the arms predominantly affecting terminal parts of the arm in relation to the upper and middle limb segments. HP:0009489 Bracket epiphyses of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009489 UMLS:C4021466 Bracket shaped end part of index finger|Bracket-epiphyses of index finger An abnormality of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. HP:0008158 Hyperapobetalipoproteinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008158 MSH:D006950|SNOMEDCT_US:238040008|SNOMEDCT_US:299465007|UMLS:C0020474 Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein. HP:0009488 Absent epiphyses of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009488 UMLS:C4024336 Absent end part of index finger Absence of the epiphyses of the 2nd finger. HP:0009485 Radial deviation of the hand or of fingers of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009485 UMLS:C4024337 HP:0008153 Periodic hypokalemic paresis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008153 UMLS:C4021553 Hypokalemic periodic paresis Episodes of muscle weakness associated with reduced levels of potassium in the blood. HP:0009484 Deviation of the hand or of fingers of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009484 UMLS:C4024338 Displaced hand or fingers of the hand Displacement of the hand or of fingers of the hand from their normal position. HP:0009487 Ulnar deviation of the hand biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009487 UMLS:C0241521|SNOMEDCT_US:249757009 Ulnar deviation of hands|Ulnar deviation of the hands Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger). HP:0009486 Radial deviation of the hand biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009486 SNOMEDCT_US:299035006|UMLS:C0575803 Radial deviation of hands An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb). HP:0008155 Mucopolysacchariduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008155 UMLS:C4024726 Excessive amounts of mucopolysaccharide in the urine. HP:0010470 Supernumerary testes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010470 SNOMEDCT_US:17471001|UMLS:C0266430 Extra testes|Polyorchidism The presence of more than two testes. HP:0010478 Abnormality of the urachus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010478 UMLS:C4023811 Abnormality of the urachus. HP:0010477 Aplasia of the bladder biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010477 UMLS:C4023812 Absent bladder Aplasia (absence) of the urinary bladder. HP:0010476 Aplasia/Hypoplasia of the bladder biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010476 UMLS:C4023813 Absent/underdeveloped bladder|Absent/small bladder Absence or underdevelopment of the urinary bladder. HP:0010475 Cloacal exstrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010475 UMLS:C0345217|SNOMEDCT_US:20815007 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. HP:0010474 Bladder stones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010474 MSH:D001744|SNOMEDCT_US:70650003|UMLS:C0005683 Buildups of minerals that form in the urinary bladder. HP:0010473 Porphyrinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010473 UMLS:C0151861|SNOMEDCT_US:44574006 Abnormally increased excretion of porphyrins in the urine. HP:0010472 Abnormal circulating porphyrin concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010472 UMLS:C4023814 An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes. HP:0010471 Oligosacchariduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010471 UMLS:C4023815 Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins. HP:0010479 Patent urachus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010479 UMLS:C0266357|SNOMEDCT_US:398316009 Persistent urachus Persistence of the urachal canal resulting in a canal between the bladder and the umbilicus. HP:0008169 Reduced factor VII activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008169 UMLS:C0015503|SNOMEDCT_US:37193007|MSH:D005168|UMLS:C4024722 Factor VII deficiency Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X. HP:0009499 Abnormality of the epiphysis of the distal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009499 UMLS:C4021464 Abnormality of the end part of the outermost bone of the index finger|Epiphyseal abnormality of terminal index finger phalanx HP:0009496 Small epiphyses of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009496 UMLS:C4024330 Small end part of the index finger Abnormally small size of the epiphyses of the 2nd finger with respect to age-dependent norms. HP:0008165 Decreased helper T cell proportion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008165 UMLS:C4024723 Reduced helper T cell proportion|Decreased proportion circulating T-helper cells Reduced proportion of helper T cells relative to the total number of T cells. HP:0009495 Pseudoepiphyses of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009495 UMLS:C4021465 Accessory index finger phalanges A secondary ossification center in the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. HP:0008167 Very long chain fatty acid accumulation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008167 UMLS:C3279397 HP:0009498 Triangular epiphyses of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009498 UMLS:C4024328 Triangular end part of the index finger A triangular appearance of the epiphyses of the 2nd finger of the hand. HP:0008166 Decreased beta-galactosidase activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008166 UMLS:C0085131|UMLS:C1856559|UMLS:C1854788|SNOMEDCT_US:238025006|MSH:D016537 Beta-galactosidase-1 deficiency|Beta-galactosidase deficiency in fibroblasts and white blood cells|Decreased beta galactosidase activity Abnormally decreased rate of beta-galactosidase activity. Beta-galactosidase activity can be measured in leukocyte, fibroblast, or plasma. HP:0009497 Stippling of the epiphyses of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009497 UMLS:C4024329 Speckled calcifications in end part of the index finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd finger. HP:0011791 Inactivating thyroid-stimulating hormone receptor defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011791 UMLS:C4023187 Inactivating TSHR defect Loss-of-function thyroid-stimulating hormone receptor (TSHR) defect. HP:0009470 Contracture of the metacarpophalangeal joint of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009470 UMLS:C4024343 Chronic loss of joint motion of the metacarpophalangeal joint of the 3rd finger due to structural changes in non-bony tissue. HP:0011792 Neoplasm by histology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011792 UMLS:C4023186 Neoplasm categorized according to type of histological abnormality. HP:0008141 Dislocation of toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008141 UMLS:C0434717|SNOMEDCT_US:263030002 Dislocation of toes HP:0011793 Neoplasm by anatomical site biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011793 UMLS:C4023185 Neoplasm categorized according to the anatomical site of origin of the neoplasm. HP:0009471 Contracture of the proximal interphalangeal joint of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009471 UMLS:C4021467 Camptodactyly of the 3rd finger|Camptodactyly of the third finger Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue. HP:0011794 Embryonal renal neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011794 UMLS:C4023184 The presence of an embryonal neoplasm of the kidney that primarily affects children. HP:0011795 Intralobar nephroblastomatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011795 UMLS:C1319016|SNOMEDCT_US:405934001 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). HP:0011796 Perilobar nephroblastomatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011796 SNOMEDCT_US:405935000|UMLS:C1319017 Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar). HP:0011797 Papillary renal cell carcinoma type 1 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011797 UMLS:C1336839 A type of papillary renal cell carcinoma that is characterized by small cuboidal cells covering thin papillae with a single line of uniform nuclei and small nucleoli. HP:0011798 Renal oncocytoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011798 UMLS:C0346255|SNOMEDCT_US:254922006|MSH:C537750 A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm. HP:0010465 Precocious puberty in females biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010465 SNOMEDCT_US:19911007|UMLS:C0271616 The onset of puberty before the age of 8 years in girls. HP:0010464 Streak ovary biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010464 SNOMEDCT_US:70550008|UMLS:C0266371 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. HP:0010463 Aplasia of the ovary biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010463 UMLS:C0266368|SNOMEDCT_US:12017008 Bilateral absent ovaries|Absent ovary|Aplasia of the ovaries Aplasia, that is failure to develop, of the ovary. HP:0010462 Aplasia/Hypoplasia of the ovary biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010462 UMLS:C4023818 Absent/underdeveloped ovary|Absent/small ovary Aplasia or developmental hypoplasia of the ovary. HP:0010461 Abnormality of the male genitalia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010461 UMLS:C4023819 Abnormality of the male genitalia|Abnormal male genitals Abnormality of the male genital system. HP:0010460 Abnormality of the female genitalia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010460 UMLS:C4023820 Abnormality of the female genital system. HP:0011790 Activating thyroid-stimulating hormone receptor defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011790 UMLS:C4023188 Activating TSHR defect Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect. HP:0010469 Absent testis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010469 UMLS:C4023816 Absence of palpable testicules|Aplasia of the testes|Absent testes Testis not palpable in the scrotum or inguinal canal. HP:0010468 Aplasia/Hypoplasia of the testes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010468 UMLS:C4023817 Absent/underdeveloped testes|Absent/small testes Absence or underdevelopment of the testes. HP:0011799 Abnormality of facial soft tissue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011799 UMLS:C4023183 Anomaly of facial soft tissue|Malformation of facial soft tissue|Deformity of facial soft tissue|Abnormality of facial soft tissue HP:0009467 Radial deviation of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009467 UMLS:C1844709 Radially deviated index finger Displacement of the 2nd finger towards the radial side. HP:0009466 Radial deviation of finger biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009466 UMLS:C1836189 Radially deviated fingers|Radially deviated phalanges 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. HP:0008138 Equinus calcaneus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008138 UMLS:C1860449 Hindfoot equinus|Equinus deformity of the calcaneus Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees. HP:0009469 Contracture of the distal interphalangeal joint of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009469 UMLS:C4024344 Contracture of the outermost hinge joint of the 3rd finger Chronic loss of joint motion of the distal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue. HP:0009468 Deviation of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009468 UMLS:C4021468 Displaced index finger|Deviated index finger Displacement of the 2nd finger from its normal position. HP:0008132 Medial rotation of the medial malleolus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008132 UMLS:C3805726 HP:0009463 Ulnar deviation of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009463 UMLS:C3554614 Ulnar deviation of middle fingers Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger). HP:0008131 Tarsal stippling biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008131 UMLS:C1844848 Punctate calcifications of tarsals|Punctate tarsal calcification The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones. HP:0009462 Radial deviation of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009462 UMLS:C4024345 Inward turned middle finger Displacement of the 3rd finger towards the radial side (i.e., towards the thumb). HP:0009465 Ulnar deviation of finger biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009465 SNOMEDCT_US:367510009|SNOMEDCT_US:276662009|UMLS:C0231679 Ulnar Drift|Finger bends toward pinky 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. HP:0008134 Irregular tarsal ossification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008134 UMLS:C4280415|UMLS:C4021554 Irregular tarsal centers|Irregular ankle bone maturation Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. HP:0008133 Distal tapering of metatarsals biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008133 UMLS:C4024729 HP:0009464 Ulnar deviation of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009464 UMLS:C1844891 Ulnar angulation of the index finger|Medially deviated index finger|Ulnar deviation of index fingers|Second finger ulnar deviation Displacement of the 2nd (index) finger towards the ulnar side. HP:0011780 Thyroid hemiagenesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011780 UMLS:C4023190|SNOMEDCT_US:715734006 Absence of a lobe of the thyroid gland related to a failure of its embryologic development. HP:0008150 Elevated serum transaminases during infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008150 UMLS:C1864179 Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections. HP:0011781 Thyroid C cell hyperplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011781 SNOMEDCT_US:237552009|UMLS:C0342190 An abnormal growth of parafollicular (C-cells) cells. HP:0011782 Thyroid crisis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011782 SNOMEDCT_US:29028009|UMLS:C0040127|MSH:D013958 HP:0009483 Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009483 UMLS:C4024339 Fused innermost bones of middle finger with middle long bone of hand Fusion of the proximal phalanx of the 3rd finger with the 3rd metacarpal. HP:0011783 Thyrotoxicosis from ectopic thyroid tissue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011783 SNOMEDCT_US:87232008|UMLS:C0154148 HP:0008151 Prolonged prothrombin time biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008151 SNOMEDCT_US:409674002|UMLS:C0151872 increased international normalised ratio|Reduced factor II activity|Increased international normalized ratio|Prolonged PT|Low factor II activity|Reduced prothrombin activity|Increased INR Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT. HP:0009482 Proximal/middle symphalangism of 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009482 UMLS:C4024340 Fused of innermost and middle bones of middle finger Fusion of the proximal and middle phalanges of the 3rd finger. HP:0011784 Thyrotoxicosis with diffuse goiter biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011784 UMLS:C0342122|SNOMEDCT_US:267374005 Thyrotoxicosis with diffuse goitre HP:0011785 Thyrotoxicosis with toxic multinodular goiter biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011785 SNOMEDCT_US:26389007|UMLS:C0154143 Thyrotoxicosis with toxic multinodular goitre HP:0011786 Thyrotoxicosis with toxic single thyroid nodule biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011786 UMLS:C0154141|SNOMEDCT_US:73869005|SNOMEDCT_US:69329005 HP:0011787 Central hypothyroidism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011787 UMLS:C0271801|SNOMEDCT_US:26692000 A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects. HP:0010456 Abnormal greater sciatic notch morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010456 UMLS:C4023822 Abnormality of the sacroiliac notch|Abnormality of the greater sacrosciatic notch|Abnormality of greater sciatic notch 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. HP:0010455 Steep acetabular roof biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010455 UMLS:C3150931 An exaggeration of the normal arched form of the acetabular roof such that it takes on a steep appearance. HP:0010454 Acetabular spurs biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010454 UMLS:C3808270 The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum. HP:0010453 Pelvic bone asymmetry biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010453 UMLS:C4021263 Pelvic asymmetry|Asymmetric pelvis Pelvic asymmetry refers to asymmetric positioning of landmarks on the two sides of the pelvis and may have a structural or functional etiology. HP:0010452 Ectopia of the spleen biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010452 SNOMEDCT_US:65146007|UMLS:C0266632 Ectopic spleen|Abnormal spleen location An abnormal (non-anatomic) location of the spleen. HP:0010451 Aplasia/Hypoplasia of the spleen biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010451 UMLS:C4023823 Absent/small spleen|Absent/underdeveloped spleen Absence or underdevelopment of the spleen. HP:0010450 Esophageal stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010450 SNOMEDCT_US:63305008|MSH:D004940|UMLS:C0014866 Narrowing of the esophagus An abnormal narrowing of the lumen of the esophagus. HP:0010459 True hermaphroditism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010459 UMLS:C0266361|MSH:D050090|SNOMEDCT_US:18978002 Testicular and ovarian tissue present The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism. HP:0010458 Female pseudohermaphroditism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010458 SNOMEDCT_US:8800006|UMLS:C0238394|MSH:D058489 Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized. HP:0010457 obsolete Widening of the sacrosciatic notch biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010457 HP:0009478 Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009478 UMLS:C4024341 Fused innermost bone of ring finger with 4th long bone of hand Fusion of the proximal phalanx of the 4th finger with the 4th metacarpal. HP:0011788 Increased circulating free T3 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011788 UMLS:C4021843 Increased circulating free triiodothyronine|Increased serum free triiodothyronine|Increased serum free T3|Increased serum fT3 An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation. HP:0011789 Impaired sensitivity to thyroid stimulating hormone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011789 UMLS:C4023189 Thyroid-stimulating hormone receptor defect|TSHR defect Reduced sensitivity of thyroid follicle cells to stimulation by biologically active thyroid-stimulating hormone (TSH). HP:0009477 Proximal/middle symphalangism of 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009477 UMLS:C4024342 Fused innermost and middle bone of fourth finger Fusion of the proximal and middle phalanges of the 4th finger. HP:0008148 Impaired epinephrine-induced platelet aggregation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008148 UMLS:C4024727 Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine. HP:0009473 Joint contracture of the hand biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009473 UMLS:C0158113|SNOMEDCT_US:86414002|MEDDRA:10010821 Contractures involving the hands|Contractures of the hands Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue. HP:0008142 Delayed calcaneal ossification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008142 UMLS:C4280414|UMLS:C4024728 Delayed heel bone maturation Delayed maturation and calcification of the calcaneus. HP:0008144 Flattening of the talar dome biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008144 UMLS:C1843986 HP:0550003 Proximal scleroderma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0550003 Symmetrical thickening, tightening and induration of the skin of the fingers and the skin proximal to the metacarpophalangeal or metatarsophalangeal joints. These changes can involve the entire limb, face, neck and trunk. HP:0550004 Verruca plana biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0550004 Flat wart Slightly raised wart 2-5 mm in diameter often associated with viral infections, commonly persistent in immunodeficient individuals. HP:0550005 Bilateral basilar pulmonary fibrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0550005 Lung disease with systemic sclerosis|Scleroderma lung disease|Scleroderma of lung It is a bilateral reticular pattern of linear or lineonodular densities that are most pronounced in basilar portions of the lungs on standard chest x-ray. It is the third minor criterion for scleroderma diagnosis. HP:0011730 Abnormal central sensory function biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011730 UMLS:C4023215 Abnormality of 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. HP:0011731 Abnormality of circulating cortisol level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011731 UMLS:C4023214 An abnormality of the concentration of cortisol in the blood. HP:0011732 Abnormality of adrenal morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011732 UMLS:C4023213 Any structural anomaly of the adrenal glands. HP:0010401 Symphalangism affecting the proximal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010401 UMLS:C4023853 Fused innermost bone of the 2nd toe HP:0010400 Patchy sclerosis of the proximal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010400 UMLS:C4023854 Uneven increase in bone density in the innermost bone of the 2nd toe HP:0010409 Patchy sclerosis of the middle phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010409 UMLS:C4023846 Uneven increase in bone density in the middle bone of the 2nd toe HP:0009408 Aplasia/Hypoplasia of the phalanges of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009408 UMLS:C4024384 Absent/underdeveloped ring finger bones|Absent/small ring finger bones HP:0010408 Osteolytic defects of the middle phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010408 UMLS:C4023847 HP:0010407 Curved middle phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010407 UMLS:C4023848 Curved middle bone of 2nd toe A deviation from the normal straight form of the middle phalanx of the 2nd toe. HP:0010406 Bullet-shaped middle phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010406 UMLS:C4023849 Bullet-shaped middle bone of 2nd toe An abnormal morphology of the middle phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. HP:0010405 Broad middle phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010405 UMLS:C4023850 Broad middle bone of 2nd toe HP:0009405 Bullet-shaped phalanges of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009405 UMLS:C4024386 Bullet-shaped of bone of ring finger A fourth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. HP:0010404 Aplasia/Hypoplasia of the middle phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010404 UMLS:C4023851 Absent/small middle bone of 2nd toe|Absent/underdeveloped middle bone of 2nd toe HP:0009404 Broad phalanges of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009404 UMLS:C4024387 Broad bones of ring finger Increased width of the phalanges of the 4th finger. HP:0009407 Triangular shaped phalanges of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009407 UMLS:C4024385 Triangular shaped bone of ring finger Triangular shaped phalanges of the 4th finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. HP:0010403 Duplication of the proximal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010403 UMLS:C4021274 Partial/complete duplication of the proximal phalanx of the 2nd toe|Duplication of the proximal phalanx of the second toe|Duplication of innermost 2nd toe bone Partial or complete duplication of proximal phalanx of second toe. HP:0009406 Patchy sclerosis of 4th finger phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009406 UMLS:C4021481 Patchy sclerosis of the phalanges of the 4th finger|Uneven increase in bone density in ring finger bone Uneven increase in bone density of one or more of the phalanges of the fourth (ring) finger. HP:0010402 Triangular shaped proximal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010402 UMLS:C4023852 Triangular shaped innermost 2nd toe bone HP:0009401 Small epiphyses of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009401 UMLS:C4024389 Small end part of ring finger bone Abnormally small size of the epiphyses of the 4th finger with respect to age-dependent norms. HP:0011733 Abnormality of adrenal physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011733 UMLS:C4023212 A functional abnormality of the adrenal glands. HP:0009400 Pseudoepiphyses of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009400 UMLS:C4024390 A secondary ossification center in the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. HP:0011734 Central adrenal insufficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011734 UMLS:C0948387 Secondary 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. HP:0011735 Adrenocorticotropin deficient adrenal insufficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011735 UMLS:C4023211 ACTH deficient adrenal insufficiency Adrenal insufficiency secondary to a defect in ACTH production. HP:0009403 Triangular epiphyses of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009403 UMLS:C4021482 Delta-shaped epiphyses of the 4th finger|Triangular end part of ring finger bone A triangular appearance of the epiphyses of the 4th finger of the hand. HP:0009402 Stippling of the epiphyses of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009402 UMLS:C4024388 Speckled calcifications in end part of ring finger bone The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th finger. HP:0011736 Primary hyperaldosteronism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011736 MSH:D006929|UMLS:C1384514|SNOMEDCT_US:190507007|SNOMEDCT_US:258117004 A form of hyperaldosteronism caused by a defect within the adrenal gland. HP:0011737 Corticotropin-releasing hormone deficient adrenal insufficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011737 UMLS:C4021127 CRH deficient adrenal insufficiency|Tertiary adrenal insufficiency Adrenal insufficiency secondary to a defect in corticotropin-releasing hormone production. HP:0011738 Corticotropin-releasing hormone receptor defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011738 UMLS:C4023210|UMLS:C4020745 CRHR defect|Corticotropin-releasing hormone receptor (CRHR) resistance Adrenal insufficiency secondary to a defect in the corticotropin-releasing hormone receptor. HP:0011739 Dexamethasone-suppressible primary hyperaldosteronism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011739 UMLS:C4020744|UMLS:C4020743|UMLS:C4023209 Familial primary hyperaldosteronism type 1|Glucocorticoid-remediable familial primary aldosteronism A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone. HP:0011720 Cardiac total anomalous pulmonary venous connection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011720 Fyler:930|Fyler:0930|Fyler:920|UMLS:C4021130|Fyler:0920 Cardiac total anomalous pulmonary venous connexion|Total anomalous pulmonary venous connection, intracardiac|Type 2 total anomalous pulmonary venous connection Type 2 total anomalous pulmonary venous connection. HP:0011721 Infracardiac total anomalous pulmonary venous connection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011721 UMLS:C4021129 Type 3 total anomalous pulmonary venous connection|Infracardiac total anomalous pulmonary venous connexion Type 3 total anomalous pulmonary venous connection. HP:0009419 Stippling of the epiphyses of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009419 UMLS:C4024375 Speckled calcifications in end part of middle finger bone The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger. HP:0009416 Ivory epiphyses of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009416 UMLS:C4024377 Increased bone density of end part of the middle finger bone Sclerosis of the epiphyses of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. HP:0009415 Irregular epiphyses of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009415 UMLS:C4024378 Irregular end part of middle finger bone Irregular radiographic opacity of the epiphyses of the 3rd finger. HP:0009418 Small epiphyses of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009418 UMLS:C4024376 Small end part of middle finger bone Abnormally small size of the epiphyses of the 3rd finger with respect to age-dependent norms. HP:0009417 Pseudoepiphyses of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009417 UMLS:C4021480 Pseudoepiphyses of middle finger phalanges A secondary ossification center in the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. HP:0011722 Mixed total anomalous pulmonary venous connection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011722 Fyler:950|UMLS:C4021128|Fyler:0950 Total anomalous pulmonary venous connection, mixed|Type 4 total anomalous pulmonary venous connection|Mixed total anomalous pulmonary venous connexion Type 4 total anomalous pulmonary venous connection. HP:0009412 Cone-shaped epiphyses of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009412 UMLS:C4024381 Cone-shaped end part of middle finger bone A cone-shaped appearance of the epiphyses of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. HP:0011723 Congenital malformation of the right heart biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011723 UMLS:C4023219 Defect or defects of the morphogenesis of the right heart identifiable at birth. HP:0009411 Bracket epiphyses of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009411 UMLS:C4024382 Bracket shaped end part of middle finger bone An abnormality of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. HP:0009414 Fragmentation of the epiphyses of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009414 UMLS:C4024379 Fragmentation of end part of middle finger bone Fragmented appearance of the epiphyses of the 3rd finger. HP:0011724 Uhl's anomaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011724 MSH:C536932|SNOMEDCT_US:2829000|UMLS:C0265857 Uhl anomaly of the right ventricle refers to the almost complete absence of right ventricular myocardium, normal tricuspid valve, and preserved septal and left ventricular myocardium. HP:0009413 Enlarged epiphyses of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009413 UMLS:C4024380 Enlarged end part of middle finger bone Abnormally large size of the epiphyses of the 3rd finger with respect to age-dependent norms. HP:0011725 Chaotic multifocal atrial tachycardia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011725 UMLS:C4023218 HP:0011726 Persistent fetal circulation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011726 MSH:D010547|SNOMEDCT_US:35604006|SNOMEDCT_US:233815004|UMLS:C0031190|SNOMEDCT_US:206597007 Persistent foetal circulation Systemic desaturation of a liveborn baby resulting from persistent pulmonary hypertension with a patent ductus arteriosus and patent foramen ovale, such that the circulation in postnatal life follows the fetal course. HP:0011727 Peroneal muscle weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011727 UMLS:C0240733 Fibularis muscle weakness Weakness of the peroneal muscles. HP:0009410 Absent epiphyses of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009410 UMLS:C4024383 Absent end part of middle finger bone Absence of the epiphyses of the 3rd finger. HP:0011728 Elbow clonus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011728 UMLS:C4023217 Clonus at the elbow joint, i.e., an exaggerated phasic stretch reflex characterized by repetitive, rhythmic contractions at the elbow, generated by rapid passive stretch at the elbow joint. HP:0011729 Abnormality of joint mobility biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011729 UMLS:C4023216 An abnormality in the range and ease of motion of joints across their normal range. HP:0011710 Bundle branch block biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011710 SNOMEDCT_US:6374002|MSH:D002037|UMLS:C0006384 Bundle-branch block Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches. HP:0011719 Supracardiac total anomalous pulmonary venous connection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011719 Fyler:910|UMLS:C4021131|Fyler:0910 Type 1 total anomalous pulmonary venous connection|Total anomalous pulmonary venous connection, supracardiac|Supracardiac total anomalous pulmonary venous connexion Type 1 total anomalous pulmonary venous connection. HP:0011711 Left anterior fascicular block biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011711 UMLS:C0264912|SNOMEDCT_US:37760005 Left anterior hemiblock Conduction block in the anterior division of the left bundle branch of the bundle of His. HP:0011712 Right bundle branch block biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011712 UMLS:C0085615|SNOMEDCT_US:59118001|MSH:D002037 Right bundle-branch block A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG. HP:0011713 Left bundle branch block biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011713 MSH:D002037|UMLS:C0023211|SNOMEDCT_US:63467002 A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG. HP:0011714 Libman-Sacks lesions biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011714 UMLS:C4023221 Libman-Sacks valvular lesions are sterile fibrofibrinous vegetations that favor the left-sided heart valves and usually form on the ventricular surface of the mitral valve. HP:0011715 Trifascicular block biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011715 UMLS:C0155707|SNOMEDCT_US:86014007 Abnormal conduction in all three divisions of the intraventricular conducting tissue. HP:0011716 Junctional ectopic tachycardia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011716 MSH:D013613|UMLS:C0039235|SNOMEDCT_US:419166005|SNOMEDCT_US:233901002 Junctional ectopic tachycardia (JET) is a unique type of supraventricular arrhythmia defined by narrow QRS complex and atrioventricular (AV) dissociation or retrograde atrial conduction in a 1:1 pattern. HP:0011717 Atrioventricular reentrant tachycardia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011717 UMLS:C4023220 AV nodal reentry 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. HP:0011718 Abnormality of the pulmonary veins biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011718 SNOMEDCT_US:111322000|UMLS:C0265914|SNOMEDCT_US:128585006|SNOMEDCT_US:199113001 Abnormality of lung veins An abnormality of the pulmonary veins. HP:0011708 Mobitz II atrioventricular block biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011708 UMLS:C0155700|SNOMEDCT_US:28189009 Mobitz type 2 atrioventricular block A type of second degree atrioventricular (AV) block characterized by sudden failure to conduct an impulse through the AV node without a preceding change in the PR interval. HP:0011709 Atrioventricular dissociation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011709 MSH:D006327|UMLS:C0004331|SNOMEDCT_US:50799005 Atrioventricular (AV) dissociation is present if the atria and the ventricles are under the control of two separate pacemakers. AV dissociation can occur in the absence of a primary AV conduction disturbance. HP:0011700 Automatic atrial tachycardia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011700 SNOMEDCT_US:233892002|UMLS:C0039234|MSH:D013612 Chronic supraventricular tachycardia predominantly seen in childhood. HP:0011701 Multifocal atrial tachycardia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011701 UMLS:C0221158|SNOMEDCT_US:49982000 Chaotic atrial tachycardia|Ectopic atrial tachycardia Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic. HP:0011702 Abnormal electrophysiology of sinoatrial node origin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011702 UMLS:C4023222|Fyler:7010 An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart. HP:0011703 Sinus tachycardia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011703 UMLS:C0039239|SNOMEDCT_US:11092001|MSH:D013616 Sinus tachy|Sinus tach Heart rate of greater than 100 beats per minute. HP:0011704 Sick sinus syndrome biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011704 MSH:D012804|SNOMEDCT_US:36083008|UMLS:C0037052 Sinoatrial node disease An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress. HP:0011705 First degree atrioventricular block biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011705 SNOMEDCT_US:270492004|UMLS:C0085614 Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles. HP:0011706 Second degree atrioventricular block biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011706 UMLS:C0264906|SNOMEDCT_US:195042002 An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction. HP:0011707 Mobitz I atrioventricular block biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011707 UMLS:C0264907|SNOMEDCT_US:54016002 Mobitz type 1 atrioventricular block|Wenckebach block Progressive PR interval prolongation with the subsequent occurrence of a single nonconducted P wave that results in a pause. The pause that follows the nonconducted impulse is less than fully compensatory (less than the sum of two normal sinus intervals). HP:0033084 Abnormal antral follicle count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033084 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. HP:0033083 Increased circulating farnesol concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033083 An elevated level of farnesol in the blood circulation. HP:0033086 Increased antral follicle count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033086 A count of antral follicles that is higher than normal for age. HP:0033085 Reduced antral follicle count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033085 A count of antral follicles that is lower than normal for age. HP:0033080 Abnormal TSH response to thyrotrophin-releasing hormone stimulation test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033080 Abnormal TSH response to TRH 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. HP:0033082 Reduced TSH response to thyrotrophin-releasing hormone stimulation test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033082 A lower than normal TSH response to thyrotrophin-releasing hormone stimulation test. HP:0033081 Absent TSH response to thyrotrophin-releasing hormone stimulation test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033081 Failure to increase serum TSH levels in response to a TRH stimulation test. HP:0033088 Valinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033088 Increased valine in urine Urine valine level above the normal range. HP:0033087 Quotidian fever biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033087 Fever that occurs at daily intervals. HP:0033089 Branched-chain aminoaciduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033089 An increased level of a branched chain family amino acid in the urine. HP:0045063 Increased PIVKA-II biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045063 UMLS:C1112467 Increased prothrombin induced by vitamin K absence-II Des-gamma carboxyprothrombin (DCP) or pro-thrombin induced by vitamin K absence-II (PIVKA-II) is an abnormal prothrombin protein that is increased in the serum of patients with HCC. Generation of DCP is thought to be a result of an acquired defect in the post- translational carboxylation of the prothrombin precursor in malignant cells. HP:0045060 Aplasia/hypoplasia involving bones of the extremities biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045060 UMLS:C4073181 HP:0045061 Decreased carnitine level in liver biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045061 UMLS:C4073182 HP:0033095 Increased sulfur amino acid level in urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033095 Increased sulfur-containing amino acid level in urine|An elevated level of a sulfur-containing amino acid in the urine.|Increased sulphur amino acid level in urine HP:0033094 Increased urine glutamate level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033094 Increased glutamic acid in urine An increased concentration of glutamate in the urine. HP:0033097 Increased urine proteinogenic amino acid derivative level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033097 An elevated urine level of a compound that is derived from an amino acid. HP:0033096 Increased aspartate family amino acid level in urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033096 An elevated level of an aspartate family amino acid in the urine. HP:0033091 Tyrosinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033091 Increased tyrosine in urine An abnormally increased level of tyrosine in the urine. HP:0033090 Increased aromatic amino acid level in urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033090 An elevated level of an aromatic amino acid in the urine. HP:0033093 Increased glutamine family amino acid level in urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033093 An elevated level of an glutamine family amino acid in the urine. HP:0033092 Increased urine succinate level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033092 An increase in the level of succinate in the urine. HP:0033099 Increased serine family amino acid in urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033099 An increased level of a serine family amino acid in the urine. HP:0033098 Increased urinary non-proteinogenic amino acid level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033098 Elevated 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. HP:0045073 Serositis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045073 Inflammation in any serous cavity. HP:0045074 Thin eyebrow biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045074 Thin eyebrow|Thin eyebrows Decreased diameter of eyebrow hairs. HP:0045075 Sparse eyebrow biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045075 Sparse eyebrow|Hypotrichosis of eyebrow|Sparse eyebrows Decreased density/number of eyebrow hairs. HP:0045079 Distal femoral metaphyseal irregularity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045079 Irregular distal femoral metaphyses Irregularity of the normally smooth surface of the distal metaphysis of the femur. HP:0045090 Minor finding biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045090 In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is unlikely to help distinguish the correct diagnosis from other candidates in the differential. HP:0045084 Limb myoclonus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045084 Myoclonus of limbs HP:0045085 Atrophy of masseter muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045085 Atrophied masseter muscle|Masseter muscle atrophy HP:0045086 Knee joint hypermobility biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045086 Knee joint over-flexibility The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees). HP:0045087 Hip joint hypermobility biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045087 HP:0045080 Decreased proportion of CD3-positive T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045080 Decreased proportion of CD3+ T cells Any abnormality in the proportion of CD3-positive T cells relative to the total number of T cells. HP:0045081 Abnormality of body mass index biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045081 Abnormal BMI|Abnormal body mass index Anomaly in the weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of obesity and underweight compared to averages. HP:0045082 Decreased body mass index biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045082 Decreased BMI Abnormally decreased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages. HP:0045083 obsolete Increased body mass index biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045083 HP:0045088 Clinical relevance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045088 Subontology for annotating phenotypic features as distinctive or minor findings in patients. The subontology is intended to be used to annotate subjective clinical impressions of whether a certain finding is important for the differential diagnosis. HP:0045089 Distinctive finding biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045089 In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is likely to have high utility in distinguishing the correct diagnosis from other candidates in the differential. HP:0033040 Anti-Sm-autoantibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033040 Anti-Smith autoantibody The presence of autoantibodies in the serum that react to seven proteins that consist of a core of small nuclear ribonucleoprotein (snRNP) particles. HP:0008083 2nd-5th toe middle phalangeal hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008083 UMLS:C1861376 Underdeveloped 2nd-5th middle toe bones HP:0033042 Abnormal chorion morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033042 Any structural anomaly of the fetal part of the placenta, which is known as the chorion. HP:0033041 Cytokine storm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033041 Hypercytokinemia Excessive or uncontrolled release of proinflammatory cytokines. HP:0008080 Hallux varus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008080 MSH:D050488|SNOMEDCT_US:274147008|UMLS:C0546297 Medially deviated halluces Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially. HP:0008082 Medial deviation of the foot biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008082 UMLS:C2673401 HP:0008081 Pes valgus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008081 SNOMEDCT_US:249803006|SNOMEDCT_US:275344002|UMLS:C1578482 Valgus foot deformity An outward deviation of the foot at the talocalcaneal or subtalar joint. HP:0033048 Substantia nigra hypointensity on susceptibility-weighted imaging biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033048 Low signal intensity in the substantia nigra on susceptibility-weighted imaging (SWI) Hypointence (dark) appearance of the substantia nigra inmagnetic resonance imaging using susceptibility weighted imaging (SWI). HP:0033047 Body ache biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033047 Body ache is a complaint that is often used to denote vague symptoms of mild fatigue, lethargy, or dull aches. We will define it here to mean a dull and poorly localizable pain that is described by the affected individual to affect multiple joints or body parts or even the entire body. HP:0033049 Globus pallidus hypointensity on susceptibility-weighted imaging biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033049 Hypointence (dark) appearance of the globus pallidus inmagnetic resonance imaging using susceptibility weighted imaging (SWI). HP:0033044 Motor regression biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033044 Regression of motor skills Loss of previously achieved motor skills, as manifested by loss of developmental motor milestones. HP:0033043 Edematous chorionic villi biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033043 Swelling of the chorionic villi owing to fluid accumulation. HP:0033046 Michaelis-Gutmann bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033046 Malakoplakia Basophilic intracytoplasmic inclusions in macrophages. The inclusions have a small, round laminated appearance. Electron microscopy of Michaelis-Gutmann bodies exhibits partially digested bacteria. HP:0033045 Bipedal edema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033045 Bipedal oedema A palpable swelling in both feet and ankles caused by palpable swelling caused by an increase in interstitial fluid volume (excess fulid). HP:0045026 Abnormality of the mediastinum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045026 UMLS:C4022395 HP:0045027 Abnormality of the thoracic cavity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045027 UMLS:C4022394 HP:0045028 Microlissencephaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045028 UMLS:C4021030 Lissencephaly type III|Type III lissencephaly|Type 3 lissencephaly Severe microcephaly and lissencephaly with granular surfaces with immature cortical plate, reduced in thickness, with focal polymicrogyria and immature small neurons with rare processes, intermingled with a considerable number of glial elements. HP:0045029 Eosinophilic fasciitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045029 MSH:C562487|UMLS:C0264005|SNOMEDCT_US:24129002 Inflammation and thickening (localized fibrosis) of the fascia, the tissue under the skin and over the muscle, typically associated with a build up of eosinophils in the muscles and tissues. HP:0008076 Osteoporotic tarsals biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008076 UMLS:C1836872 Reduction in bone mineral density affecting any or all of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. HP:0008079 Absent fifth metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008079 UMLS:C1867932 Absent 5th long bone of foot|Absent 5th metatarsals|Aplasia of the fifth metatarsal bone A developmental abnormality characterized by the absence of the fifth metatarsal bone. HP:0045025 Narrow palpebral fissure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045025 UMLS:C1837464|UMLS:C2675021 Small opening between the eyelids|Narrow eyelid opening|Small palpebral fissures|Narrow palpebral fissures|Decreased size of palpebral fissure Reduction in the vertical distance between the upper and lower eyelids. HP:0008078 Thin metatarsal cortices biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008078 UMLS:C1850162 HP:0010393 Abnormality of the middle phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010393 UMLS:C4023861 Abnormality of the middle bone of the little toe|Abnormality of the middle bone of the pinkie toe|Abnormality of the middle bone of the pinky toe HP:0008095 Osteolysis of talus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008095 UMLS:C4021556 Osteolysis of tali Osteolysis affecting the talus. HP:0033051 Impaired executive functioning biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033051 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. HP:0008094 Widely spaced toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008094 UMLS:C1969238 Widely spaced toes An overall widening of the spaces between the digits. HP:0033050 Pharyngalgia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033050 Pharyngodynia|Sore throat|Throat pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the throat. HP:0010392 Abnormality of the distal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010392 UMLS:C4023862 Abnormality of the outermost bone of the little toe|Abnormality of the outermost bone of the pinkie toe|Abnormality of the outermost bone of the pinky toe HP:0010391 Duplication of the phalanges of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010391 UMLS:C4020903 Duplication of the bones of the pinky toe|Partial/complete duplication of the phalanges of the 5th toe|Duplication of the bones of the little toe|Duplication of the phalanges of the fifth toe|Duplication of the bones of the pinkie toe Partial or complete duplication of one or more phalanx of little toe. HP:0033053 Pseudoseizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033053 Sudden, involuntary seizure-like attacks that, unlike epileptic seizures, are not related to electrographic ictal discharges. HP:0008097 Partial fusion of tarsals biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008097 UMLS:C1844520 HP:0010390 Triangular shaped phalanges of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010390 UMLS:C4023863 Triangular shaped little toe bone|Triangular shaped pinkie toe bone|Triangular shaped pinky toe bone HP:0033052 Psychogenic non-epileptic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033052 Psychogenic non-epileptic seizures (PNES) are an important cause of apparently treatment-resistant epilepsy and remain a major diagnostic challenge in epileptology. The two main PNES groups are panic disorder (also occurring as a reaction in people with epilepsy) and dissociative disorder (pseudoseizure), often developing inpatients with no history of epilepsy. The main markers distinguishing PNES from epileptic seizures are (i) the way the patient tells the story (not focusing on the seizure symptoms, avoidance of the word seizure, etc); (ii) that they are prolonged (many minutes); (iii) associated with hyperventilation and eyes closed; and that they present as treatment-resistant epilepsy despite an often normal intellect and brain imaging. HP:0008096 Medially deviated second toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008096 UMLS:C1862147 Medial deviation of the second toe. HP:0008090 Ankylosis of feet small joints biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008090 UMLS:C4024732 HP:0008093 Short 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008093 UMLS:C1862083 Short 4th toe|Short fourth toe Underdevelopment (hypoplasia) of the fourth toe. HP:0033059 Decreased serum complement C6 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033059 A reduced level of the complement component C6 in the blood circulation. HP:0033058 Decreased serum complement C7 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033058 A reduced level of the complement component C7 in the blood circulation. HP:0010399 Osteolytic defects of the proximal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010399 UMLS:C4023855 HP:0010398 Curved proximal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010398 UMLS:C4023856 Curved innermost bone of 2nd toe A deviation from the normal straight form of the proximal phalanx of the 2nd toe. HP:0033055 Impaired ability to plan biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033055 Ineffective planning Impaired ability to anticipate future events, implement instructions or goals, and develop appropriate steps ahead of time in order to carry out a task or activity. HP:0010397 Bullet-shaped proximal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010397 UMLS:C4023857 Bullet-shaped innermost bone of 2nd toe An abnormal morphology of the proximal phalanx of the 2nd toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. HP:0033054 Myoclonic tremor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033054 A tremor-like cortical myoclonus. The tremulous movements are in fact small, high-frequency myoclonic jerks, induced by posture or action. They can be mild, but can also be more incapacitating. When present in the lower limbs, these may lead to gait disorders and even drop attacks. These tremor-like movements during action can be mistaken for essential tremor or epileptic seizures. HP:0010396 Broad proximal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010396 UMLS:C4023858 Broad innermost bone of 2nd toe HP:0010395 Aplasia/hypoplasia of the proximal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010395 UMLS:C4023859 Absent/small innermost 2nd toe bone|Absent/underdeveloped innermost 2nd toe bone Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 2nd toe. HP:0033057 Decreased serum terminal complement component biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033057 Reduced level of one or more components of the the terminal membrane attack complex (MAC) portion of complement, which represents the lytic, pore-forming part of the system. The MAC comprises seven components: C5b, C6, C7, C8 (a heterotrimer composed of C8alpha, C8beta and C8gamma) and multiple copies of C9. HP:0010394 Abnormality of the proximal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010394 UMLS:C4023860 Abnormality of the innermost bone of the pinkie toe|Abnormality of the innermost bone of the little toe|Abnormality of the innermost bone of the pinky toe HP:0033056 Impaired ability to organize biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033056 Impaired ability to organise Impaired ability to bring order to information, actions, or materials to achieve a goal or to follow an established organized routine. HP:0045037 Abnormality of jaw muscles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045037 UMLS:C4073166 Abnormality of jaw muscles HP:0045038 Gastric lymphoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045038 SNOMEDCT_US:276811008|MSH:C535648|UMLS:C0349532 Primary gastric lymphoma Lymphoma that originates in the stomach itself. HP:0045039 Osteolysis involving bones of the upper limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045039 UMLS:C4073167 HP:0045034 Elevated urinary aminoisobutyric acid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045034 UMLS:C4022393 An increased amount of 3-aminoisobutyric acid in the urine. HP:0008087 Nonossified fifth metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008087 UMLS:C1844712 The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible. HP:0045035 Decreased urinary copper concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045035 UMLS:C4073164 Decreased urinary copper concentration HP:0008089 Abnormality of the fifth metatarsal bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008089 UMLS:C4024733 Abnormality of the 5th long bone of foot An anomaly of the fifth metatarsal bone. HP:0045036 Abnormal urinary copper concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045036 UMLS:C4073165 Abnormal urinary copper concentration HP:0009393 Absent epiphyses of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009393 UMLS:C4024397 Absent end part of the ring finger bone Absence of one or more epiphyses of the 4th finger. HP:0033062 Abnormal factor IX activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033062 Abnormal activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. HP:0008062 Aplasia/Hypoplasia affecting the anterior segment of the eye biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008062 UMLS:C4024739 Absence or underdevelopment of the anterior segment of the eye. HP:0010382 Abnormality of the proximal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010382 UMLS:C4023868 Abnormal innermost 4th toe bone HP:0009392 Triangular epiphyses of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009392 UMLS:C4021483 Triangular end part of the pinky finger|Triangular end part of the pinkie finger|Triangular end part of the little finger|Delta-shaped epiphyses of the 5th finger A triangular appearance of the epiphyses of the 5th finger of the hand. HP:0010381 Abnormality of the middle phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010381 UMLS:C4023869 Abnormality of middle 4th toe bone HP:0008061 Aplasia/Hypoplasia of the retina biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008061 UMLS:C4024740 Absent/small retina|Absent/underdeveloped retina HP:0033061 Increased factor IX activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033061 Elevated activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. HP:0008064 Ichthyosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0008064 MSH:D007057|UMLS:C0020757|MEDDRA:10021198 Ichthyotic skin|Hypertrophic ichthyosis|Ichthyosiform abnormality of the skin An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. HP:0009395 Cone-shaped epiphyses of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009395 UMLS:C4024395 Cone-shaped end part of the ring finger bones A cone-shaped appearance of the epiphyses of the 4th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. HP:0010380 Abnormality of the distal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010380 UMLS:C4023870 Abnormality of the outermost 4th toe bone HP:0033064 Renal interstitial globotriaosylceramide inclusions biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033064 Accumulation of globotriaosylceramide (GL-3) in kidney tissues, which can be quantified as the number of globotriaosylceramide (GL-3) inclusions/kidney interstitial capillary (KIC). HP:0008063 Aplasia/Hypoplasia of the lens biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008063 UMLS:C4024738 Absent/small lens|Absent/underdeveloped lens Absence or underdevelopment of the lens. HP:0009394 Bracket epiphyses of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009394 UMLS:C4024396 Bracket shaped end part of ring finger bones 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. HP:0033063 Shortened sleep cycle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033063 Short sleep A tendency to sleep less hours than usual while feeling well rested. HP:0008060 Aplasia/Hypoplasia of the fovea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008060 UMLS:C4024741 Absent/underdeveloped fovea Congenital absence or underdevelopment of the fovea centralis. HP:0009391 Stippling of the epiphyses of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009391 UMLS:C4024398 Speckled calcifications in end part of pinky finger bone|Speckled calcifications in end part of pinkie finger bone|Speckled calcifications in end part of little finger bone The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th finger. HP:0033060 Decreased serum complement C5 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033060 A reduced level of the complement component C5 in the blood circulation. HP:0009390 Small epiphyses of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009390 UMLS:C4024399 Small end part of pinky finger bone|Small end part of little finger bone|Small end part of pinkie finger bone Abnormally small size of the epiphyses of the 5th finger with respect to age-dependent norms. HP:0010389 Symphalangism affecting the phalanges of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010389 UMLS:C4023864 Fused bones in the pinky toe|Fused bones in the pinkie toe|Fused bones in the little toe HP:0033069 Renal interstitial IgG4+ plasma cell infiltration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033069 An increased number of IgG4+ plasma cells in the interstitial space of the kidney. HP:0010388 Patchy sclerosis of 5th toe phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010388 UMLS:C4021275 Patchy sclerosis of the phalanges of the 5th toe|Uneven increase in bone density in pinky toe bone|Uneven increase in bone density in pinkie toe bone|Uneven increase in bone density in little toe bone Patchy (irregular) increase in bone density of one or more of the phalanges of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. HP:0010387 Osteolytic defects of the phalanges of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010387 UMLS:C4023865 HP:0010386 Curved 5th toe phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010386 UMLS:C4021276 Curved pinkie toe bones|Curved pinky toe bones|Curved phalanges of the 5th toe|Curved little toe bones A deviation from the normal straight form of one or more phalanges of the fifth toe. HP:0033066 Severe albuminuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033066 Heavy albuminuria The presence of severely increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio greater than 300 mg/gm (greater than 34 mg/mmol). HP:0033065 Mild albuminuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033065 The presence of mildly increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio (ACR) less than 30 mg/gm (less than 3.4 mg/mmol). HP:0010385 Bullet-shaped 5th toe phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010385 UMLS:C4021277 Bullet-shaped bones of the pinky toe|Bullet-shaped phalanges of the 5th toe|Bullet-shaped bones of the pinkie toe|Bullet-shaped bones of the little toe An abnormal morphology of one or more phalanges of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. HP:0010384 Broad phalanges of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010384 UMLS:C4023866 Broad bones of the pinkie toe|Broad bones of the little toe|Broad bones of the pinky toe HP:0033068 Medication crystalluria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033068 A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber colour. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance. HP:0010383 Aplasia/Hypoplasia of the phalanges of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010383 UMLS:C4023867 Absent/underdeveloped pinky toe bones|Absent/small pinkie toe bones|Absent/small little toe bones|Absent/small pinky toe bones HP:0033067 Cystine crystalluria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033067 HP:0045040 Abnormal lactate dehydrogenase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045040 UMLS:C4073168 A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate. HP:0045041 Reduced lactate dehydrogenase B level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045041 UMLS:C3279904|MSH:C563641 A decreased or reduced level of the enzyme lactate dehydrogenase in serum. HP:0045042 Decreased serum complement C4 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045042 UMLS:C4073169 Decreased serum complement C4 level A reduced level of the complement component C4 in the circulation. HP:0045043 Decreased serum complement C4a biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045043 UMLS:C4073170 Complement component 4A deficiency|C4a deficiency A reduced level of the complement component C4a in circulation. HP:0045048 Increased HbA2 hemoglobin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045048 UMLS:C4073172 Increased HbA2 haemoglobin|Increased hemoglobin A2 An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia. HP:0008059 Aplasia/Hypoplasia of the macula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008059 UMLS:C4024742 Absent/underdeveloped macula HP:0045049 Abnormal DLCO biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045049 UMLS:C4073173 Abnormal diffusing capacity|Abnormal transfer factor of the lung for carbon monoxide|Abnormal TLCO An abnormal amount of oxygen passes into the blood from the lungs and/or an abnormal amount of carbon dioxide passes from the blood into the lungs. HP:0009389 Pseudoepiphyses of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009389 UMLS:C4024400 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. HP:0008058 Aplasia/Hypoplasia of the optic nerve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008058 UMLS:C4024743 Absent/underdeveloped optic nerve|Absent/small optic nerve HP:0008055 Aplasia/Hypoplasia affecting the uvea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008055 UMLS:C4024746 Absent/underdeveloped uvea Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid. HP:0009386 Fragmentation of the epiphyses of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009386 UMLS:C4024403 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 Fragmented appearance of the epiphyses of the 5th finger. HP:0045044 Decreased serum complement C4b biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045044 UMLS:C3280641 C4b deficiency|Complement component 4B deficiency A reduced level of the complement component C4b in circulation. HP:0008054 Abnormal morphology of the conjunctival vasculature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008054 UMLS:C4024747 Abnormal morphology of the conjunctiva vasculature|Abnormal vasculature of the conjunctiva morphology|Abnormality of the vasculature of the conjunctiva Any abnormality of the blood vessels of the conjunctiva. HP:0045045 Elevated circulating acylcarnitine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045045 UMLS:C4073171 Elevated plasma acylcarnitine levels An abnormally increased concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine. HP:0009385 Enlarged epiphyses of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009385 UMLS:C4024404 Enlarged end part of the little finger bones|Enlarged end part of the pinkie finger bones|Enlarged end part of the pinky finger bones Abnormally large size of the epiphyses of the 5th finger with respect to age-dependent norms. HP:0009388 Ivory epiphyses of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009388 UMLS:C4024401 Increased bone density of end part of the little finger|Increased bone density of end part of the pinkie finger|Increased bone density of end part of the pinky finger Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. HP:0045046 Reduced insulin like growth factor binding protein acid labile subunit level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045046 UMLS:C3900122 Acid-labile subunit deficiency|Decreased levels of acid labile subunit Blood concentration of insulin like growth factor binding protein acid labile subunit level below normal limits. HP:0008057 Aplasia/Hypoplasia affecting the fundus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008057 UMLS:C4024744 Absent/small fundus HP:0009387 Irregular epiphyses of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009387 UMLS:C4024402 Irregular end part of the pinky finger bones|Irregular end part of the pinkie finger bones|Irregular end part of the little finger bones Irregular radiographic opacity of the epiphyses of the 5th finger. HP:0008056 Aplasia/Hypoplasia affecting the eye biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008056 UMLS:C4024745 Absent/underdeveloped eye|Absent/small eye HP:0045047 HbS hemoglobin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045047 UMLS:C0019043|SNOMEDCT_US:50095005|MSH:D006451 HbS haemoglobin Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography. HP:0008073 Low maternal serum estriol biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008073 UMLS:C4024734 Low maternal serum estriol An abnormally high concentration of serum conjugated estriol as compared to normal values for gestational-age. HP:0010371 Aplasia/Hypoplasia of the phalanges of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010371 UMLS:C4023875 Absent/underdeveloped bones of 4th toe|Absent/small bones of 4th toe HP:0033073 Urate tophus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033073 Urate tophi Intradermal urate crystal deposits appeared as small, superficial, pustule-like, whitish lesions. The lesions may be the focus of inflammatory episodes with increasing pain, swelling, and erythema of the intradermal tophi. HP:0010370 Abnormality of the proximal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010370 UMLS:C4023876 Abnormality of the innermost bone of 3rd toe An anomaly of the proximal phalanx of third toe. HP:0008072 Maternal virilization in pregnancy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008072 UMLS:C4024735 Virilization (deepening of voice, facial hirsutism and scalp hair loss) with onset during pregnancy (usually towards the end of the first trimester) and regression several months post-partum. HP:0033072 Abnormal macroscopic urine appearance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033072 Anomalous physical appearance (color, cloudiness, clarity) or odor of urine. HP:0008075 Progressive pes cavus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008075 UMLS:C1846017 The development of Pes cavus that is progressive with age. HP:0033075 Inappropriately normal thyroid-stimulating hormone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033075 Inappropriately normal TSH A normal or elevated serum thyroid-stimulating hormone (TSH) level in the face of an elevation in circulating FT4 and/or FT3. HP:0033074 Steroid-responsive anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033074 Steroid-responsive anaemia|Prednisone-responsive anemia Amelioration of anemia upon treatment with a steroid medication. HP:0008074 Metatarsal periosteal thickening biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008074 UMLS:C1834349 HP:0008071 Maternal hypertension biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008071 UMLS:C0565599|SNOMEDCT_US:288250001 Increased blood pressure during a pregnancy. HP:0033071 Impaired task monitoring biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033071 Impaired ability to keep track of one's problem-solving success or failure, and to identify and correct mistakes during performance of a goal. HP:0008070 Sparse hair biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0008070 UMLS:C1837770|UMLS:C0020678|MEDDRA:10021126|SNOMEDCT_US:56558005|MSH:D007039|UMLS:C1860844|SNOMEDCT_US:53602002 Sparse hair since birth|Decreased hair growth|Decreased hair growth on body|Thin, sparse hair|Hypotrichosis|Marked hypotrichosis|Sparse hair Reduced density of hairs. HP:0033070 Impaired self monitoring biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033070 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. HP:0010379 Duplication of phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010379 UMLS:C4021278 Duplication of phalanx of the fourth toe|Duplication of 4th toe bone|Partial/complete duplication of the phalanges of the 4th toe Partial or complete duplication of phalanx of fourth toe. HP:0010378 Triangular shaped phalanges of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010378 UMLS:C4023871 Triangular shaped bones of 4th toe HP:0010377 Symphalangism affecting the phalanges of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010377 UMLS:C4023872 Fused bones of 4th toe HP:0010376 Patchy sclerosis of 4th toe phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010376 UMLS:C4021279 Patchy sclerosis of the phalanges of the 4th toe|Uneven increase in bone density in 4th toe bone 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. HP:0033077 Increased circulating free T4 level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033077 An elevated concentration of free thyroxine (fT4) in the blood circulation. HP:0010375 Osteolytic defects of the phalanges of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010375 UMLS:C4023873 HP:0010374 Curved 4th toe phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010374 UMLS:C4021280 Curved bones of 4th toe|Curved phalanges of the 4th toe A deviation from the normal straight form of one or more phalanges of the fourth toe. HP:0033076 Abnormal circulating free T4 level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033076 Abnormal circulating free thyroxine level A deviation from the normal concentration of free thyroxine (T4) in the blood circulation. Circulating T4 is almost entirely bound to specific transport proteins such as thyroxine-binding globulin (TBG) but it is the unbound (free) fraction that is able to enter tissues and exert effects. HP:0010373 Bullet-shaped 4th toe phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010373 UMLS:C4021281 Bullet-shaped bones of the 4th toe|Bullet-shaped phalanges of the 4th toe 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. HP:0033079 Aplasia/Hypoplasia of the thyroid gland biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033079 Absence or underdevelopment of the thyroid gland. HP:0010372 Broad phalanges of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010372 UMLS:C4023874 Broad bones of the 4th toe HP:0033078 Decreased circulating free T4 level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033078 A reduced concentration of free thyroxine (fT4) in the blood circulation. HP:0045051 Decreased DLCO biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045051 UMLS:C4073175 Decreased diffusing capacity Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test. HP:0045052 Abnormality of the brachial nerve plexus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045052 UMLS:C4073176 Any abnormality of the brachial nerve plexus. HP:0045053 Abnormality of the lumbosacral nerve plexus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045053 UMLS:C4073177 Any abnormality of the lumbosacral nerve plexus. HP:0045054 Brachial plexus neuropathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045054 SNOMEDCT_US:3548001|MSH:D020516|UMLS:C0700251 HP:0045050 Increased DLCO biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045050 UMLS:C4073174 Increased diffusing capacity Increased ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test. HP:0045059 Hyperkeratotic papule biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045059 UMLS:C2047516 A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically). HP:0008069 Neoplasm of the skin biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0008069 SNOMEDCT_US:126488004|UMLS:C0007114|SNOMEDCT_US:372130007|MSH:D012878|UMLS:C0037286|NCIT:C3262 Skin cancer|Dermatological tumors|Skin cancer (non-melanoma)|Tumor of the skin|Skin tumors|Neoplasia of the skin A tumor (abnormal growth of tissue) of the skin. HP:0008066 Abnormal blistering of the skin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008066 UMLS:C2132198|UMLS:C0241054|UMLS:C2220104 Blistering, generalized|Skin bullae|Skin blisters|Abnormal blistering of the skin|Blisters|Blister The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. HP:0045055 Tiger tail banding biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045055 UMLS:C4073178 Tiger-tail banding|Tiger tail banding An abnormal appearance of hair under polarizing microscopy (using crossed polarizers), whereby hair shafts show striking alternating bright and dark bands, often referred to as tiger tail banding. HP:0009397 Fragmentation of the epiphyses of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009397 UMLS:C4024393 Fragmentation of the end part of the ring finger bones Fragmented appearance of the epiphyses of the 4th finger. HP:0009396 Enlarged epiphyses of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009396 UMLS:C4024394 Enlarged end part of the ring finger bones Abnormally large size of the epiphyses of the 4th finger with respect to age-dependent norms. HP:0008065 Aplasia/Hypoplasia of the skin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008065 UMLS:C4024737 Absent/small skin|Absent/underdeveloped skin HP:0045056 Abnormal levels of alpha-fetoprotein biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045056 UMLS:C4073179 HP:0009399 Ivory epiphyses of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009399 UMLS:C4024391 Increased bone density of end part of the ring finger bone Sclerosis of the epiphyses of the 4th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. HP:0045057 Decreased levels of alpha-fetoprotein biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045057 UMLS:C4073295 A decrease in the concentration of alpha-fetoprotein in the blood circulation. HP:0009398 Irregular epiphyses of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009398 UMLS:C4024392 Irregular end part of the ring finger bones Irregular radiographic opacity of the epiphyses of the 4th finger. HP:0008067 Abnormally lax or hyperextensible skin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008067 UMLS:C4024736 Abnormally loose or stretchable skin|Abnormally loose or hyperelastic skin HP:0045058 Abnormality of the testis size biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045058 UMLS:C4073180 An anomaly of the size of the testicle (the male gonad). HP:0033004 Palmar warts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033004 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). HP:0033003 Tracheal papilloma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033003 A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the trachea. HP:0033006 Diffuse alveolar damage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033006 Diffuse alveolar damage (DAD) describes a comon histologic injury pattern of the lung. The early stages are characterized by epithelial cell necrosis and sloughing, fibrous exsudate, edema, and hyaline membranes made of surfactant and proteins, filling the alveoli. This results in impaired gas exchange. In later stages, type II cells and myofibroblasts proliferate within the interstitium and airspaces. The corresponding clinical entity is acute respiratory distress syndrome (ARDS). DAD may result from pulmonary drug toxicity, occurs in immunosuppressed, severe viral infections, acute interstial pneumonitis and crack cocaine inhalation. HP:0033005 Plantar warts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033005 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). HP:0033000 Subglottic laryngitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033000 Pseudocroup|Viral croup|Spasmodic croup|Croup|Subglottic laryngitis|Laryngitis Narrowing of the larynx, commonly occuring during viral respiratory tract infections, in particular in children, leads to symptoms such as hoarseness, a barking cough, stridor, and sometimes dyspnea and respiratory failure. HP:0033002 Bronchial papilloma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033002 A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on a bronchus. HP:0033001 Laryngeal papilloma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033001 Laryngeal papillomas|Laryngeal papillomatosis A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the larynx. HP:0033008 Increased Z-disc width biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033008 Increased Z-disk width|Widened z-discs Abnormally increased width of the Z-disk of the sarcomere, resulting from splitting or opening of the Z-disc (c.f., Figure 2 of PMID:28732005). HP:0033007 Architectural distortion of the lung biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033007 Architectural distortion is characterized by abnormal displacement of bronchi, vessels, fissures, or septa caused by diffuse or localized lung disease, particularly interstitial fibrosis. This is visible in lung biopsy and CT scans in a distorted appearance and is usually associated with pulmonary fibrosis and accompanied by volume loss. HP:0033009 Increased fecal coproporphyrin 1 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033009 Increased faecal coproporphyrin 1|High fecal coproporphyrin 1|High stool coproporphyrin 1|Elevated stool coproporphyrin 1|Elevated fecal coproporphyrin 1 Abnormally high concentration of coproporphyrin 3 in feces. HP:0033015 Increased salivary cortisol level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033015 Abnormally elevated concentration of cortisol in saliva. HP:0033014 Decreased salivary cortisol level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033014 Abnormally reduced concentration of cortisol in saliva. HP:0033017 Transient decreased circulating IgD biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033017 Transient decreaseed IgD in blood A temporary reduction beneath the normal level of total immunoglobulin D (IgD) in the blood circulation. HP:0033016 Chronic decreased circulating IgD biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033016 Chronic decreased IgM in blood A lasting reduction beneath the normal level of total immunoglobulin D (IgD) in the blood. HP:0033011 Platystencephaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033011 Extreme width of the skull in the occipital region, with anterior narrowing and prognathism. HP:0033010 Increased fecal coproporphyrin 3 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033010 Increased faecal coproporphyrin 3|High stool coproporphyrin 3|High fecal coproporphyrin 3|Elevated stool coproporphyrin 3|Elevated fecal coproporphyrin 3 Abnormally high concentration of coproporphyrin 3 in feces HP:0033013 Abnormal salivary cortisol level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033013 Any deviation from the normal concentration of cortisol in saliva. HP:0033012 Abnormal salivary metabolite concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033012 Any deviation from the normal concentration of a metabolite in saliva. HP:0033019 Male reproductive system neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033019 NCIT:C3054 A neoplasm that affects the male reproductive system. HP:0033018 Chronic absent circulating IgD biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033018 Chronic (near) absent IgM in blood A lasting absence of immunoglobulin D (IgD) in the blood, whereby at most trace quantities of IgD can be measured. HP:0033020 Female reproductive system neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033020 NCIT:C3053 A neoplasm that affects the female reproductive system. HP:0045008 Abnormal shape of the radius biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045008 UMLS:C4022402 HP:0045009 Abnormal morphology of the radius biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045009 UMLS:C4022401 HP:0033026 White oral mucosal macule biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033026 A small circumscribed whitish change in the color of the oral mucosa that is neither elevated nor depressed. HP:0033025 Chronic absent circulating total IgG biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033025 Chronic (near) absent total IgG in blood A lasting absence of immunoglobulin G (IgG) in the blood, whereby at most trace quantities of IgG can be measured. HP:0033028 Anti-ribonucleoprotein antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033028 Anti-Scl-34 antibody positivity|Anti-RNP-antibodies|Anti-U3 ribonucleoprotein antibody positivity The presence autoantibodies in the serum that react to proteins (70 Kd, A, C) that are associated with U1 RNA and form U1snRNP. Comment: High titers of anti-RNP antibodies are diagnostic of mixed connective tissue disorder (MCTD). Anti-RNP antibodies can also be found in patients with systemic lupus erythematosus (SLE). HP:0033027 Retinal peau d'orange biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033027 A pebbly orange appearance of the fundus that is said to resemble the skin of an orange. HP:0033022 Chronic decreased circulating IgE biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033022 Chronic decreased IgE in blood A lasting reduction beneath the normal level of total immunoglobulin E (IgE) in the blood. HP:0033021 Transient decreased circulating IgE biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033021 Transient decreased IgE in blood A temporary reduction beneath the normal level of total immunoglobulin E (IgE) in the blood. HP:0033024 Transient decreased circulating IgA biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033024 A temporary reduction beneath the normal level of total immunoglobulin A (IgA) in the blood circulation. HP:0033023 Chronic absent circulating IgE biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033023 Chronic (near) absent IgE in blood A lasting absence of immunoglobulin E (IgE) in the blood circulation, whereby at most trace quantities of IgE can be measured. HP:0033029 Anti-Jo-1 antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033029 The presence of autoantibodies in the serum that react to the histidyl-tRNA-synthetase. HP:0045004 Abnormal ossification of the trapezoid bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045004 UMLS:C4022406 HP:0045005 Neural tube defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045005 MSH:D009436|UMLS:C0027794|SNOMEDCT_US:253098009 Abnormality of neural tube closure A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine. HP:0045006 Aplasia of lymphatic vessels biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045006 UMLS:C4022404 Absent lymphatic vessels Aplasia (absence) of the lymphatic vessels. HP:0045007 Abnormal substantia nigra morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045007 UMLS:C4022403 Abnormality of the substantia nigra A structural anomaly of the substantia nigra, which is a midbrain dopaminergic nucleus which has a critical role in modulating motor movement and reward functions as part of the basal ganglia circuitry. HP:0045001 Abnormal ossification of the trapezium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045001 UMLS:C4022409 HP:0045002 Absent ossification of the trapezium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045002 UMLS:C4022408 HP:0045003 Abnormal ossification of the scaphoid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045003 UMLS:C4022407 HP:0033031 Hyperpyrexia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033031 An extreme elevation of core body temperature above normal defined as a rectal temperature of 41.1 degrees Celsius (106 degrees Fahrenheit). HP:0033030 Anti-glomerular basement membrane-antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033030 Anti-GBM-antibody positivity The presence of autoantibodies in the serum that react to the glomerular basement membrane. HP:0033037 Migratory arthritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033037 Migratory polyarthritis HP:0033036 Decreased nasal nitric oxide biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033036 Low nasal nitric oxide level Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure. HP:0033039 Increased circulating precipitin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033039 Increased level of antigen-precipitating IgG antibodies The presence of high titers of antigen-precipitating IgG in the serum. HP:0033038 Anti-RNA-polymerase-III-autoantibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033038 The presence of autoantibodies in the serum that react to RNA-polymerase III. HP:0033033 Anti-MDA5 antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033033 Increased level of anti-melanoma differentiation-associated protein 5 antibodies The presence of autoantibodies in the serum that react to Anti-MDA5 (Anti-melanoma differentiation-associated proteine 5). HP:0033032 Triggered by an abusive adult biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033032 Munchausen syndrome by proxy Applies to a sign or symptom that is induced by an abusive adult (usually a parent). HP:0033035 Abnormal Schwann cell morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033035 Abnormal neurilemmocyte morphology|Abnormal neurilemmal cell morphology Abormality of schwann cells, glial cells that ensheath axons of neurons in the peripheral nervous system and are necessary for their maintenance and function. HP:0033034 Anti-citrullinated protein antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033034 The presence autoantibodies in the serum that react do different citrullinated antigens, including filaggrin, fibrinogen, vimentin and collagen. HP:0045010 Abnormality of peripheral nerves biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045010 UMLS:C4022400 HP:0045016 obsolete Elevated serum long-chain fatty acids biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045016 Increased serum long-chain fatty acids HP:0045017 Congenital malformation of the left heart biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045017 UMLS:C4022397 Defect or defects of the morphogenesis of the left heart identifiable at birth. HP:0045018 Partial duplication of eyebrows biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045018 UMLS:C4022396 Partial duplication of eyebrows|Partial double eyebrow HP:0045011 Decreased urine bicarbonate concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045011 UMLS:C4022399 Decreased urine HCO3 concentration Abnormally decreased concentration of hydrogencarbonate in the urine. HP:0045012 Decreased urinary catecholamine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045012 UMLS:C4022398 HP:0045013 obsolete Decreased urinary glucose concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045013 HP:0045014 Hypolipidemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0045014 SNOMEDCT_US:238090007|UMLS:C0342892 HP:0011890 Prolonged bleeding following procedure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011890 UMLS:C4023142 Prolonged bleeding following procedure Prolonged or protracted bleeding following an invasive procedure or intervention. HP:0011891 Post-partum hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011891 UMLS:C0032797|MSH:D006473|SNOMEDCT_US:47821001 Bleeding post-delivery|Post-partum haemorrhage Significant maternal haemorrhage/blood loss following deilvery of a child. HP:0009571 Curved middle phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009571 UMLS:C4024286 Curved middle bone of the index finger Curved appearance of the middle phalanx of the 2nd finger. HP:0011892 Low levels of vitamin K biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011892 MSH:D014813|UMLS:C0042880|SNOMEDCT_US:52675005 A reduced concentration of vitamin K. HP:0008240 Secondary growth hormone deficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008240 UMLS:C4024716 HP:0009570 Bullet-shaped middle phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009570 UMLS:C4024287 Bullet-shaped middle bone of index finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 2nd finger is affected. HP:0011893 Abnormal leukocyte count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011893 UMLS:C0580531|SNOMEDCT_US:165509000 Abnormal white blood cell count Number of leukocytes per volume of blood beyond normal limits. HP:0011894 Impaired thromboxane A2 agonist-induced platelet aggregation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011894 UMLS:C4023141 Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists. HP:0011895 Anemia due to reduced life span of red cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011895 UMLS:C4021112 Anaemia due to reduced life span of red cells A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days. HP:0011896 Subconjunctival hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011896 UMLS:C0038534|SNOMEDCT_US:78768009 Subconjunctival haemorrhage Bleeding beneath the mucous membrane that lines the inner surface of the eyelid. HP:0011897 Neutrophilia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011897 UMLS:C4023140 Increased blood neutrophil counts Increased number of neutrophils circulating in blood. HP:0033202 Brachioradialis hyporeflexia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033202 Reduced intensity of the brachioradialis tendon reflex. HP:0010566 Hamartoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010566 SNOMEDCT_US:51398009|MSH:D006222|SNOMEDCT_US:400006008|UMLS:C0018552 A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma. HP:0033201 Biceps hyporeflexia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033201 Hyporeflexia of biceps Reduced intensity of the biceps tendon reflex. HP:0010565 Aplasia/Hypoplasia of the Epiglottis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010565 UMLS:C4023790 This term applies if the Epiglottis is absent or hypoplastic. HP:0033204 Triceps hyperreflexia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033204 Increased intensity of the triceps reflex. HP:0010564 Bifid epiglottis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010564 UMLS:C0339864|SNOMEDCT_US:232412004 A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation. HP:0033203 Brachioradialis hyperreflexia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033203 Increased intensity of the brachioradialis reflex. HP:0010562 Keloids biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010562 SNOMEDCT_US:33659008|MSH:D007627|SNOMEDCT_US:58405006|UMLS:C0022548|MEDDRA:10023330 HP:0010561 Undulate ribs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010561 UMLS:C1969185 Wavy ribs An abnormally wavy surface or edge of the ribs. HP:0010560 Undulate clavicles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010560 UMLS:C4021253 Wavy clavicles|Wavy collarbone An abnormally wavy surface or edge of the clavicles. HP:0033200 Triceps hyporeflexia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033200 Hyporeflexia of triceps Reduced intensity of the triceps tendon reflex. HP:0033209 Acinar dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033209 Arrest of lung development in the pseudoglandular stage (weeks 8 to 16 of human gestation) resulting in small sized lungs, predominantly composed of bronchial and bronchiolar structures embedded in abundant loose mesenchyme that is poorly vascularized. Acinar structures are essentially absent, with no significant formation of saccules and no alveoli. HP:0033206 Hyperactive Achilles reflex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033206 Hyperactive ankle jerk reflex|Hyperactive ankle reflex Increased intensity of the Achilles reflex. HP:0008239 Adrenal medullary hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008239 UMLS:C4024717 Small adrenal medulla Developmental hypoplasia of the adrenal medulla. HP:0010569 Elevated 7-dehydrocholesterol biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010569 UMLS:C1849185 Elevated levels of cholesta-5,7-dien-3beta-ol Elevated 7-dehydrocholesterol levels. HP:0033205 Biceps hyperreflexia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033205 Increased intensity of the biceps reflex. HP:0009569 Broad middle phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009569 UMLS:C4024288 Broad middle bone of the index finger Increased width of the middle phalanx of the second finger. HP:0010568 Hamartoma of the eye biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010568 UMLS:C4023788 A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye. HP:0033208 Alveolar capillary dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033208 A developmental defect of the alveolar airspace during cananicular lung development characterized by a decreased number of pulmonary capillaries located away from the alveolar epithelium, thickened alveolar septae, media hypertrophy of small pulmonary arteries and muscularization of distal arterioles, and in some cases lymphangiectasis. HP:0010567 Y-shaped metatarsals biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010567 UMLS:C4023789 Y-shaped long bone of foot Y-shaped metatarsals are the result of a partial fusion of two metatarsal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metatarsals may be seen in combination with polydactyly. HP:0033207 Increased proportion autoreactive unresponsive CD21-/low B cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033207 Increased proportion relative to B-lymphocytes of a subset of B lymphocytes characterized by dim/low levels of CD21, i.e., CD21-/low, in flow cytometry, and additionally enriched in autoreactive clones as determined for instance by clonse showing rheumatoid factor (anti-IgG) reactivity and antibodies recognizing cytoplasmic and to a lesser extent nuclear structures. HP:0009566 Short distal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009566 UMLS:C4021438 Hypoplastic/small distal phalanx of the 2nd finger|Short distal phalanx of the second finger|Short terminal index finger phalanx|Hypoplastic terminal index finger phalanx|Short outermost bone of the index finger Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger. HP:0011898 Abnormality of circulating fibrinogen biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011898 UMLS:C4023139 An abnormality of the level of activity of circulating fibrinogen. HP:0009565 Aplasia of the distal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009565 UMLS:C4021439 Absent outermost index finger bone|Absent terminal index finger phalanx HP:0011899 Hyperfibrinogenemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011899 UMLS:C0919890|SNOMEDCT_US:439000005 Increased concentration of fibrinogen in the blood. HP:0009568 Aplasia/Hypoplasia of the middle phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009568 UMLS:C1862144 Absent/small middle index finger bone|Hypoplastic/aplastic middle phalanx of index finger|Absent/underdeveloped middle index finger bone|Absent/hypoplastic middle phalanx of 2nd finger HP:0008237 Hypothalamic hypothyroidism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008237 SNOMEDCT_US:37429009|UMLS:C0220998 Tertiary hypothyroidism A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity. HP:0008236 Isosexual precocious puberty biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008236 UMLS:C0271528|SNOMEDCT_US:4294006 HP:0008231 Macronodular adrenal hyperplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008231 UMLS:C0342495|SNOMEDCT_US:237778003 HP:0009562 Patchy sclerosis of the distal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009562 UMLS:C4024290 Uneven increase in bone density in the outermost bone of the 2nd finger Uneven (irregular) increase in bone density of the distal phalanx of the second finger. HP:0009561 Osteolytic defects of the distal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009561 UMLS:C4021441 Osteolytic defects of the outermost bone of the 2nd finger|Acro-osteolysis of index finger|Acro-osteolysis of terminal index finger phalanx Dissolution or degeneration of bone tissue of the distal phalanx of the 2nd finger. HP:0008230 obsolete Decreased testosterone in males biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008230 HP:0009564 Triangular shaped distal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009564 UMLS:C4024289 Triangular shaped outermost bone 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. HP:0008233 Decreased circulating progesterone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008233 UMLS:C1858995 Decreased serum progesterone An reduced concentration of progesterone in the blood. HP:0008232 Elevated circulating follicle stimulating hormone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008232 UMLS:C4021550 Elevated follicle stimulating hormone|Elevated follicle-stimulating hormone|Increased circulating follicle stimulating hormone level|Elevated FSH level|Elevated plasma follicle stimulating hormone An elevated concentration of follicle-stimulating hormone in the blood. HP:0009563 Distal/middle symphalangism of 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009563 UMLS:C4021440 Symphalangism of the distal and middle phalanges of the 2nd finger|Fused outermost and middle index finger bones Fusion of the terminal/distal and middle phalanges of the 2nd finger. HP:0009580 Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009580 UMLS:C4024281 Absent/underdeveloped innermost index finger bone|Absent/small innermost index finger bone HP:0011880 Acute disseminated intravascular coagulation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011880 UMLS:C4023149 An acute form of disseminated intravascular coagulation. Acute DIC can occur following sudden exposure of blood to procoagulants, with the compensatory hemostatic mechanisms becoming overwhelmed. HP:0008251 Congenital goiter biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008251 UMLS:C0349476|SNOMEDCT_US:276565004 Congenital goitre An enlargement of the thyroid gland with congenital onset. HP:0011881 Decreased platelet glycoprotein VI biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011881 UMLS:C4023148 Decreased cell membrane concentration of glycoprotein VI. HP:0009582 Bullet-shaped proximal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009582 UMLS:C4024280 Bullet-shaped innermost bone of index finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 2nd finger is affected. HP:0009581 Broad proximal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009581 UMLS:C4021434 Wide/broad proximal index finger phalanx|Wide innermost bone of index finger Increased width of the proximal phalanx of the 2nd finger. HP:0008250 Infantile hypercalcemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008250 MSH:C562999|UMLS:C0475732|SNOMEDCT_US:276645004 HP:0011882 Decreased platelet P2Y12 receptor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011882 UMLS:C4023147 Decreased cell membrane concentration of P2Y12 receptor. HP:0011883 Abnormal platelet granules biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011883 UMLS:C4023146 An anomaly of alpha or dense granules or platelet lysosomes. HP:0011884 Abnormal umbilical stump bleeding biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011884 UMLS:C4023145 Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth. HP:0011885 Hemorrhage of the eye biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011885 SNOMEDCT_US:417244000|UMLS:C0015402|MSH:D005130|SNOMEDCT_US:93478000 Bleeding from the eye|Haemorrhage of the eye Bleeding from vessels of the various tissues of the eye. HP:0011886 Hyphema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011886 MSH:D006988|SNOMEDCT_US:75229002|UMLS:C0020581 Bleeding in the anterior chamber of the eye. HP:0033213 Elevated urine suberic acid level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033213 Elevated urine octanedioic acid level An increased in the level of suberic acid in the urine above the normal range. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane. HP:0010554 Cutaneous finger syndactyly biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010554 UMLS:C4021254 Cutaneous syndactyly of fingers|Webbed skin of fingers|Webbed fingers|Cutaneous syndactyly of hands A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers. HP:0033212 Abnormal total iron binding capacity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033212 Any deviation from the normal total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. HP:0033215 Obliterative abnormality of the renal glomerulus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033215 HP:0010553 Oculogyric crisis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010553 SNOMEDCT_US:5332004|UMLS:C0085637 An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications. HP:0033214 Recurrent viral pneumonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033214 Increased susceptibility to viral pneumonia, as manifested by recurrent episodes of viral pneumonias. HP:0010551 Paraplegia/paraparesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010551 UMLS:C4023792 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. HP:0010550 Paraplegia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010550 MSH:D010264|UMLS:C0030486|SNOMEDCT_US:60389000 Leg paralysis Severe or complete weakness of both lower extremities with sparing of the upper extremities. HP:0033211 Decreased total iron binding capacity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033211 A reduction in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity. HP:0033210 Congenital alveolar dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033210 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. HP:0010559 Vertical clivus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010559 UMLS:C1844702 An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum). HP:0033217 Perihilar glomerular hyalinosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033217 Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the vascular pole/perihilum. HP:0008249 Thyroid hyperplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008249 UMLS:C1112776 Large thyroid Hyperplasia of the thyroid gland. HP:0010558 Abnormality of the clivus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010558 UMLS:C4023791 An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum. HP:0033216 Glomerular hyalinosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033216 Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus. Distribution can include vascular pole, perihilar, tip or neither tip, perihilar or vascular. HP:0010557 Overlapping fingers biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010557 UMLS:C1446712 A finger resting on the dorsal surface of an adjacent digit when the hand is at rest. HP:0033219 Glomerular hyalinosis away from the vascular and tubular poles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033219 Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at neither tip nor perihilar/vascular poles. Both the vascular and the tubular pole are present in the glomerular cross section. HP:0033218 Glomerular hyalinosis at the tubular pole biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033218 Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the tip/tubular pole. HP:0009577 Short middle phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009577 UMLS:C4021435 Short middle bone of index finger|Hypoplastic middle index finger phalanx|Hypoplastic/small 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. HP:0011887 Choroid hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011887 MSH:D002832|UMLS:C0008522|SNOMEDCT_US:122003 Choroid haemorrhage|Choroidal hemorrhage Hemorrhage from the vessels of the choroid. HP:0011888 Bleeding requiring red cell transfusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011888 UMLS:C4023144 Bleeding requiring red cell transfusion Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4). HP:0009576 Absent middle phalanx of 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009576 UMLS:C4021436 Absent middle phalanx of index finger|Absent middle bone of index finger|Aplasia of the middle phalanx of the 2nd finger Absence of the middle phalanx of the index (2nd) finger. HP:0008245 Pituitary hypothyroidism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008245 UMLS:C3665349|SNOMEDCT_US:82598004 Low thyroid gland function due to abnormal pituitary gland|Thyroid stimulating hormone deficiency|TSH deficient hypothyroidism|Thyrotropin deficiency|Secondary hypothyroidism A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion. HP:0009579 Proximal/middle symphalangism of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009579 UMLS:C4024282 Fused innermost and middle index finger bones Fusion of the proximal and middle phalanges of the 2nd finger. HP:0011889 Bleeding with minor or no trauma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011889 UMLS:C4023143 Easy bleeding|Bleeding with minor or no trauma Significant bleeding or hemorrhage without significant precipitating factor. HP:0008247 Euthyroid hyperthyroxinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008247 UMLS:C4021549 Asymptomatic hyperthyroxinemia An abnormality of thyroid physiology (HP:0002926) characterized by increased levels of thyroxine without evidence of clinical thyroid disease. HP:0009573 Patchy sclerosis of the middle phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009573 UMLS:C4024285 Uneven increase in bone density in the middle bone of the index finger Uneven (irregular) increase in bone density of the middle phalanx of the second finger. HP:0008242 Pseudohypoaldosteronism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008242 UMLS:C0033805|SNOMEDCT_US:77098009|MSH:D011546 A state of renal tubular unresponsiveness or resistance to the action of aldosterone. HP:0009572 Osteolytic defects of the middle phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009572 UMLS:C4021437 Lytic defects of middle index finger phalanx Dissolution or degeneration of bone tissue of the middle phalanx of the 2nd finger. HP:0008244 Congenital adrenal hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008244 SNOMEDCT_US:93235007|UMLS:C0220766 Congenital adrenal gland hypoplasia A type of adrenal hypoplasia with congenital onset. HP:0009575 Triangular shaped middle phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009575 UMLS:C4024283 Triangular shaped middle bone of index 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. HP:0009574 Symphalangism of middle phalanx of 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009574 UMLS:C4024284 Fused middle bone of index finger Fusion of the middle phalanx of the 2nd finger with another bone. HP:0011870 Impaired arachidonic acid-induced platelet aggregation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011870 UMLS:C4023155 Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid. HP:0011871 Impaired ristocetin-induced platelet aggregation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011871 UMLS:C4023154 Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin. HP:0011872 Impaired thrombin-induced platelet aggregation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011872 UMLS:C4023153 Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics). HP:0011873 Abnormal platelet count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011873 SNOMEDCT_US:165558001|UMLS:C0580317 Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood. HP:0011874 Heparin-induced thrombocytopenia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011874 SNOMEDCT_US:73397007|UMLS:C0272285 Low platelet count following administration of unfractionated or (less commonly) low-molecular weight heparin. HP:0011875 Abnormal platelet morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011875 UMLS:C0855742 Abnormal shape of platelets An anomaly in platelet form, ultrastructure, or intracellular organelles. HP:0010544 Vertical nystagmus biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010544 UMLS:C0271386|SNOMEDCT_US:111533001|MSH:D009759 Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus. HP:0033224 Glomerular parietal epithelial cell hyperplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033224 Hyperplasia of the glomerular parietal epithelial cell 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. HP:0033223 Abnormal glomerular parietal epithelial cell morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033223 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. HP:0010543 Opsoclonus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010543 SNOMEDCT_US:194177006|UMLS:C0242567|MSH:D015835 Bursts of large-amplitude multidirectional saccades without intersaccadic interval HP:0010542 Vestibular nystagmus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010542 UMLS:C0155379|SNOMEDCT_US:46888001 Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components. HP:0033226 Bowman capsular hyaline drops biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033226 Capsular hyaline drops within Bowman's capsule 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. HP:0010541 Cutis gyrata of scalp biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010541 UMLS:C0263417|UMLS:C4280378|UMLS:C4072877|SNOMEDCT_US:51603000 Cutis verticis gyrata|Scalp folds|Thickening of the scalp|Thickened folds on top of scalp|Furrows in thickened skin on top of scalp|Scalp furrows The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction. HP:0033225 Glomerular parietal epithelial cell hypertrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033225 Hypertrophy of the glomerular parietal epithelial cell An abnormality of the glomerular parietal epithelial cells characterized by (1) Increased parietal epithelial cell size, with or without cytoplasmic protein droplets; or (2) enlarged nuclei with prominent nucleoli. Both features can be present HP:0033220 2-ethylhydracylic aciduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033220 Elevated urinary 2-ethylhydracylic acid|Elevated urinary 2-methylbutyrylglycine An increased concentration of 2-ethylhydracylic acid in the urine. HP:0010540 Advanced pneumatization of cranial sinuses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010540 UMLS:C4023793 A degree of pneumatization that is increased compared to age-related norms. HP:0033222 Decreased CD4:CD8 ratio biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033222 Inverted CD4/CD8 ratio|Inverted CD4:CD8 ratio An abnormal reduction of the relative proportion of CD4+ to CD8+ T cells. HP:0033221 Increased CD4:CD8 ratio biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033221 An abnormal elevation of the relative proportion of CD4+ to CD8+ T cells. HP:0010549 Weakness due to upper motor neuron dysfunction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010549 UMLS:C4021255 Paralysis due to lesions of the principle motor tracts 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. HP:0033228 Triceps areflexia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033228 Areflexia of triceps Inability to elicit triceps tendon reflex. HP:0010548 Percussion myotonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010548 MSH:D009222|UMLS:C0751359 Transient swelling of muscle induced by percussion A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object). HP:0009548 Bullet-shaped phalanges of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009548 UMLS:C4024300 Bullet-shaped index finger bones A second finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. HP:0008216 Adrenal gland dysgenesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008216 UMLS:C1856017 Adrenal gland dysplasia|Dysplastic adrenal glands Abnormal development of the adrenal gland. HP:0009547 Broad phalanges of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009547 UMLS:C4021444 Wide/broad index finger phalanges|Wide index finger bones HP:0010547 Muscle flaccidity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010547 SNOMEDCT_US:397488002|MSH:D009123|UMLS:C0026825|SNOMEDCT_US:186611004 A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation. HP:0033227 Glomerular synechial adhesion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033227 An area of basement membrane continuity between the glomerular tuft and Bowman's capsule, without intervening crescent and not adjacent to an area of segmental sclerosis. HP:0010546 Muscle fibrillation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010546 UMLS:C0231531|SNOMEDCT_US:41405005 Twitching Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG. HP:0010545 Downbeat nystagmus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010545 SNOMEDCT_US:307676006|UMLS:C0585544 Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone. HP:0033229 Brachioradialis areflexia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033229 Areflexia of brachioradialis Inability to elicit brachioradialis tendon reflex. HP:0009549 Curved phalanges of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009549 UMLS:C4024299 Curved index finger bones HP:0009544 Abnormality of the proximal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009544 UMLS:C4021447 Abnormality of the proximal 2nd finger phalanx|Abnormal innermost index finger bone HP:0011876 Abnormal platelet volume biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011876 UMLS:C4023152 Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. HP:0008213 Gonadotropin deficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008213 SNOMEDCT_US:33927004|UMLS:C0271623|MSH:D007006 Pituitary gonadotropin deficiency A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH). HP:0009543 Abnormality of the middle phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009543 UMLS:C4021448 Abnormal middle index finger bone|Abnormality of middle 2nd finger phalanx HP:0011877 Increased mean platelet volume biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011877 UMLS:C1096367 Large platelets Average platelet volume above the upper limit of the normal reference interval. HP:0009546 Triangular shaped phalanges of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009546 UMLS:C4021445 Triangular index finger phalanges|Triangular bones of index 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. HP:0011878 Abnormal platelet membrane protein expression biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011878 UMLS:C4023151 Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry. HP:0008214 Decreased serum estradiol biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008214 SNOMEDCT_US:166449002|UMLS:C0241011 Decreased serum estradiol A reduction below normal concentration of estradiol in the circulation. HP:0009545 Symphalangism of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009545 UMLS:C4021446 Symphalangism of index finger phalanges|Fused index finger bones HP:0011879 Decreased platelet glycoprotein Ib-IX-V biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011879 UMLS:C4023150 Decreased cell membrane concentration of the glycoprotein complex Ib-IX-V. HP:0009540 Contracture of the proximal interphalangeal joint of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009540 UMLS:C4021451 Camptodactyly of 2nd finger|Camptodactyly of index finger|Camptodactyly of second finger Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue. HP:0009542 Abnormality of the distal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009542 UMLS:C4021449 Abnormality of terminal index finger phalanx|Abnormality of the outermost bone of the 2nd finger HP:0008211 Parathyroid agenesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008211 UMLS:C1321907|SNOMEDCT_US:73291005|MSH:C563238 Parathyroid aplasia|Parathyroid absence Aplasia of the parathyroid gland. HP:0009541 Abnormality of the phalanges of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009541 UMLS:C4021450 Abnormal index finger bones|Abnormality of 2nd finger phalanges Abnormality of the phalanges of the 2nd (index) finger. HP:0009560 Curved distal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009560 UMLS:C4024291 Curved outermost bone of the index finger Curved appearance of the distal phalanx of the 2nd finger. HP:0011860 Metaphyseal dappling biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011860 UMLS:C4020907 Dappled metaphyseal sclerosis The presence of spots or rounded patches of abnormally increased density of metaphyseal bone. HP:0011861 Bilateral trilobed lungs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011861 UMLS:C3164377|SNOMEDCT_US:448648001 Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes. HP:0011862 Abnormal bone collagen fibril morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011862 UMLS:C4023158 Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity. HP:0011863 Abnormal sternal ossification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011863 UMLS:C1860243 Sternal ossification center abnormalities|Abnormal maturation of breastbone Any anomaly in the formation of the bony substance of the sternum. HP:0011864 Elevated plasma pyrophosphate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011864 UMLS:C4023157 An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate. HP:0010533 Spasmus nutans biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010533 UMLS:C0546878|MSH:D013036|SNOMEDCT_US:18191000 The combination of pendular nystagmus, head nodding, and torticollis. HP:0033235 Difficulty descending stairs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033235 Difficulty walking down stairs Reduced ability to desscend stairs. HP:0010532 Paroxysmal vertigo biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010532 MSH:D014717|SNOMEDCT_US:103290003|UMLS:C0522357 Paroxysmal episodes of vertigo. HP:0033234 Mesangial hyaline deposition biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033234 Extracellular mesangial accumulation of moderately electron-dense, generally homogenous, amorphous-appearing extracellular material. HP:0033237 Visceral epithelial cell detachment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033237 Podocyte detachment|Detachment of visceral epithelial cells Detachment of visceral epithelial cells (podocytes) from underlying glomerular basement membrane with intervening new loose basement membrane material (pale on Hematoxylin and eosin, periodic acid-Shiff, trichrome, or silver stain) forming a so-called 'halo'. HP:0010531 Spinal myoclonus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010531 SNOMEDCT_US:698836007|UMLS:C3697670 Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia. HP:0010530 Palatal myoclonus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010530 MSH:D009207|UMLS:C0030214|SNOMEDCT_US:9366002 Palatal myoclonus is characterized by myoclonic (rhythmic involuntary jerky) movements of the soft palate. HP:0033236 Cognitive fatigue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033236 Central fatigue A failure to sustain attention that requires self-motivation to optimize performance. HP:0033231 Abnormal glomerular mesangial cellularity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033231 Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney. HP:0033230 Biceps areflexia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033230 Areflexia of biceps Inability to elicit biceps tendon reflex. HP:0033233 Paramesangial deposits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033233 Mesangial immune deposit located adjacent to the paramesangial glomerular basement membrane. HP:0033232 Abnormal glomerular mesangial matrix morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033232 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. HP:0010539 Thin calvarium biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010539 UMLS:C1856231|UMLS:C4280379 Thin skull bone|Thin cranial bone The presence of an abnormally thin calvarium. HP:0010538 Small sella turcica biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010538 UMLS:C4072876|UMLS:C4072875|UMLS:C4023794 Small hypophyseal fossa|Hypoplasia of pituitary fossa|Hypoplasia of hypophseal fossa|Small pituitary fossa|Hypoplasia of sella turcica An abnormally small sella turcica. HP:0010537 Wide cranial sutures biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010537 UMLS:C0410935|SNOMEDCT_US:268855009 Broad cranial sutures|Widened cranial sutures|open cranial sutures|Persistent open cranial sutures|Large cranial suture An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure). HP:0009559 Bullet-shaped distal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009559 UMLS:C4024292 Bullet-shaped outermost bone of the index finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 2nd finger is affected. HP:0033239 Visceral epithelial cell capping biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033239 Podocyte cap Layer of hypertrophied visceral epithelial cells overlying a sclerosed segment of the tuft of the glomerulus. HP:0009558 Broad distal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009558 UMLS:C4024293 Wide outermost bone of the index finger Increased width of the distal phalanx of the 2nd finger. HP:0033238 Podocyte microvillous transformation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033238 Cytoplasmic projections into the urinary space from the luminal side of the podocyte. HP:0008227 Pituitary resistance to thyroid hormone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008227 SNOMEDCT_US:360348000|UMLS:C0342198|SNOMEDCT_US:360353005 A condition in which the pituitary gland is partially resistant to thyroid hormone, so that it continues to secrete thyroid-stimulating hormone (TSH) until the blood level of thyroid hormone rises higher than normal. HP:0010536 Central sleep apnea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010536 UMLS:C0520680|MSH:D020182 Central sleep apnoea Sleep apnea resulting from a transient abolition of the central drive to the ventilatory muscles. HP:0010535 Sleep apnea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010535 MSH:D012891|SNOMEDCT_US:73430006|UMLS:C0037315 Pauses in breathing while sleeping|Sleep apnoea An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep. HP:0008229 Thyroid lymphangiectasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008229 UMLS:C1856129 Thyroid lymphangiectasis The presence of lymphangiectasis of the thyroid gland. HP:0010534 Transient global amnesia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010534 SNOMEDCT_US:230736007|UMLS:C0338591|MSH:D020236 A paroxysmal, transient loss of memory function with preservation of immediate recall and remote memory but with a severe impairment of memory for recent events and ability to retain new information. HP:0009555 Hypoplasia of the pharynx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009555 UMLS:C4280396|UMLS:C4280400|UMLS:C4280399|UMLS:C4280398|UMLS:C4024295|UMLS:C4280397 Small pharynx|Decreased size of pharynx|Underdevelopment of pharynx|Hypotrophic pharynx|Decreased diameter of pharynx|Decreased width of pharynx|Decreased length of pharynx|Decreased volume of pharynx Underdevelopment of the pharynx. HP:0009554 Preauricular hair displacement biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009554 UMLS:C4024296 Hair displacement, preauricular, towards lateral cheekbone|Projection of scalp hair onto lateral cheek|Hair growing down to cheek An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones. HP:0008223 Compensated hypothyroidism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008223 SNOMEDCT_US:237523006|UMLS:C0342162 Mild hypothyroidism|Subclinical hypothyroidism Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4). HP:0011867 Abnormality of the wing of the ilium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011867 UMLS:C4023156 An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally. HP:0008226 Androgen insufficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008226 UMLS:C0342527|SNOMEDCT_US:38825009 Hypoandrogenism Insufficient amount of androgenic activity. HP:0009557 Aplasia/Hypoplasia of the distal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009557 UMLS:C4024294 Absent/underdeveloped outermost index finger bone|Absent/small outermost index finger bone HP:0009556 Absent tibia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009556 UMLS:C3276744 Absent shankbone|Absent shinbone|Aplasia of the tibia Absence of the tibia. HP:0011868 Sciatica biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011868 SNOMEDCT_US:23056005|UMLS:C0036396|MSH:D012585 Pain in the lower back and hip radiating in the distribution of the sciatic nerve. HP:0008225 Thyroid follicular hyperplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008225 UMLS:C1969546 HP:0009551 Patchy sclerosis of 2nd finger phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009551 UMLS:C4021442 Patchy sclerosis of the phalanges of the 2nd finger|Uneven increase in bone density in index finger bone Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger. HP:0011869 Abnormal platelet function biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011869 UMLS:C0855740 Any anomaly in the function of thrombocytes. HP:0009550 Osteolytic defects of the phalanges of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009550 UMLS:C4021443 Lytic defect in index finger phalanges HP:0008222 Female infertility biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008222 MSH:D007247|SNOMEDCT_US:6738008|UMLS:C0021361 Female infertility HP:0009553 Abnormality of the hairline biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009553 UMLS:C4024297 Abnormality of the hairline The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair. HP:0009552 Aplasia/Hypoplasia of the phalanges of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009552 UMLS:C4024298 Absent/underdeveloped index finger bone|Absent/small index finger bone HP:0008221 Adrenal hyperplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008221 UMLS:C1621895|SNOMEDCT_US:419920004 Enlarged adrenal glands Enlargement of the adrenal gland. HP:0008282 Unconjugated hyperbilirubinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008282 UMLS:C0268306|SNOMEDCT_US:7752002 An increased amount of unconjugated (indirect) bilurubin in the blood. HP:0008281 Acute hyperammonemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008281 UMLS:C1859506 Hyperammonemia, acute An increased concentration of ammonia in the blood with sudden onset. HP:0008283 Fasting hyperinsulinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008283 UMLS:C1864954 High blood insulin levels while fasting An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake. HP:0008279 Transient hyperlipidemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008279 UMLS:C1850722 HP:0008278 Cerebellar cortical atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008278 UMLS:C4024710 Cerebellar cortex degeneration Atrophy (wasting) of the cerebellar cortex. HP:0008275 Abnormal light-adapted electroretinogram biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008275 UMLS:C4024712 Abnormal cone-mediated electroretinogram HP:0008277 Abnormal blood zinc concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008277 UMLS:C4024711|UMLS:C4020802 Abnormal zinc metabolism|Abnormality of zinc homeostasis An abnormality of zinc ion homeostasis. HP:0008293 Long-chain dicarboxylic aciduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008293 UMLS:C1837273 An increase in the level of long-chain dicarboxylic acid in the urine. HP:0010591 Abnormality of the proximal tibial epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010591 UMLS:C4023782 Abnormality of the end part of innermost shinbone|Abnormality of the end part of innermost shankbone Any abnormality of the proximal epiphysis of the tibia. HP:0010590 Abnormality of the distal femoral epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010590 UMLS:C4023783 Abnormality of the end part of the outermost thighbone Any abnormality of the distal epiphysis of the femur. HP:0008291 Pituitary corticotropic cell adenoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008291 SNOMEDCT_US:254958004|MSH:D049913|SNOMEDCT_US:21109002|UMLS:C1306214 ACTH-producing pituitary adenoma|Corticotropin-secreting pituitary adenoma A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH). HP:0008290 Partial complement factor H deficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008290 UMLS:C4024708 A partial reduction in level of the complement component Factor H in circulation. HP:0010599 Abnormality of the distal humeral epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010599 UMLS:C4023774 Abnormality of the end part of the outermost long bone in upper arm Any abnormality of the distal epiphysis of the humerus. HP:0010598 Abnormality of the proximal humeral epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010598 UMLS:C4023775 Abnormality of the end part of the innermost long bone in upper arm Any abnormality of the proximal epiphysis of the humerus. HP:0010597 Abnormality of the distal radial epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010597 UMLS:C4023776 Any abnormality of the distal epiphysis of the radius. HP:0010596 Abnormality of the proximal radial epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010596 UMLS:C4023777 Any abnormality of the proximal epiphysis of the radius. HP:0010595 Abnormality of the distal fibular epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010595 UMLS:C4023778 Abnormality of the outermost end part of calf bone Any abnormality of the distal epiphysis of the fibula. HP:0010594 Abnormality of the proximal fibular epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010594 UMLS:C4023779 Abnormality of the innermost end part of calf bone Any abnormality of the proximal epiphysis of the fibula. HP:0010593 Abnormality of fibular epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010593 UMLS:C4023780 Abnormality of the end part of the calf bone HP:0010592 Abnormality of the distal tibial epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010592 UMLS:C4023781 Abnormality of the end part of outermost shankbone|Abnormality of the end part of outermost shinbone HP:0008285 Transient hypophosphatemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008285 UMLS:C4024709 HP:0008288 Nonketotic hyperglycinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008288 UMLS:C0751748|SNOMEDCT_US:237939006|MSH:D020158 HP:0010580 Enlarged epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010580 UMLS:C1833328 Large epiphyses|Large end part of bone|Widened, distorted epiphyses Increased size of epiphyses. HP:0009591 Abnormality of the vestibulocochlear nerve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009591 UMLS:C4021431 Abnormality of the eighth cranial nerve|Abnormality of the VIIIth cranial 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. HP:0009590 Unilateral vestibular Schwannoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009590 UMLS:C1863653 A unilateral vestibular Schwannoma (acoustic neurinoma). HP:0009593 Peripheral Schwannoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009593 UMLS:C4024276 The presence of a peripheral schwannoma. HP:0009592 Astrocytoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009592 MSH:D001254|UMLS:C0004114|SNOMEDCT_US:38713004 Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma. HP:0008261 Pancreatic islet cell adenoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008261 UMLS:C1851697 The presence of an adenoma of the pancreas with origin in a pancreatic B cell. HP:0010588 Premature epimetaphyseal fusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010588 UMLS:C0151628|SNOMEDCT_US:89493005 Premature closure of epiphyses 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. HP:0010587 Triangular epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010587 UMLS:C4023784 Triangular end part of bone HP:0010585 Small epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010585 UMLS:C1846803 Small end part of bone Reduction in the size or volume of epiphyses. HP:0010584 Pseudoepiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010584 UMLS:C1841685 HP:0010583 Ivory epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010583 UMLS:C1856911 Increased bone density in end part of bone|Epiphyseal sclerosis Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. HP:0010582 Irregular epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010582 UMLS:C1846449 Irregular end part of long bone An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance. HP:0009588 Vestibular Schwannoma biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009588 MSH:D009464|SNOMEDCT_US:126949007|SNOMEDCT_US:985004|NCIT:C3269|UMLS:C0027859 Vestibular neurinoma|Acoustic Neuroma|Vestibular Schwann cell tumor|Vestibular neurolemmoma|Vestibular neurilemmoma 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. HP:0009587 Triangular shaped proximal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009587 UMLS:C4021432 Triangular shaped innermost bone of index finger|Triangular proximal index finger phalanx Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. HP:0008256 Adrenocortical adenoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008256 MSH:D018246|SNOMEDCT_US:302826002|SNOMEDCT_US:18365006|SNOMEDCT_US:255036008|UMLS:C0206667 Adrenocortical adenomas Adrenocortical adenomas are benign tumors of the adrenal cortex. HP:0008259 Adrenocorticotropin receptor defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008259 UMLS:C4021548 ACTH receptor defect|Adrenocorticotropic hormone-resistant adrenal insufficiency|ACTHR defect Adrenal insufficiency secondary to a defect in the ACTH receptor. HP:0008258 Congenital adrenal hyperplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008258 UMLS:C0001627|SNOMEDCT_US:237751000|MSH:D000312 A type of adrenal hyperplasia with congenital onset. HP:0009589 Bilateral vestibular Schwannoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009589 MSH:D016518|UMLS:C1136042 Bilateral acoustic neuromas A bilateral vestibular Schwannoma (acoustic neurinoma). HP:0009584 Osteolytic defects of the proximal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009584 UMLS:C4021433 Lytic defects of proximal index finger phalanx Dissolution or degeneration of bone tissue of the proximal phalanx of the 2nd finger. HP:0009583 Curved proximal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009583 UMLS:C4024279 Curved innermost bone of index finger Curved appearance of the proximal phalanx of the 2nd finger. HP:0008255 Transient neonatal diabetes mellitus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008255 SNOMEDCT_US:237603002|UMLS:C0342273 HP:0009586 Symphalangism affecting the proximal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009586 UMLS:C4024277 Fused innermost bone of index finger Fusion of the proximal phalanx of the 2nd finger with another bone. HP:0009585 Patchy sclerosis of the proximal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009585 UMLS:C4024278 Uneven increase in bone density in innermost index finger bone Uneven (irregular) increase in bone density of the proximal phalanx of the second finger. HP:0008271 Abnormal cartilage collagen biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008271 UMLS:C4021847|UMLS:C4020804|UMLS:C4020803 Abnormal type II collagen|Abnormal hyaline 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. HP:0046508 Abnormal cervical spine morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0046508 SNOMED_CT:298391004 Any morphological abnormality of the cervical vertebral column. HP:0008273 Transient aminoaciduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008273 UMLS:C4024713 HP:0008272 Renal tubular lysine transport defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008272 UMLS:C4024714 HP:0046504 Decreased libido biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0046504 Decreased sexual desire. HP:0046505 Hand pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0046505 An unpleasant sensation characterized by physical discomfort localized to the hand. HP:0046506 Pain in head and neck region biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0046506 HP:0046507 Bradypnea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0046507 SNOMED_CT:86684002 Bradypnea is referring to breathing that is abnormally slow. HP:0010577 Absent epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010577 UMLS:C4021862 Absent end part of bone HP:0010576 Intracranial cystic lesion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010576 UMLS:C4021250 Cerebral cystic malformation A cystic lesion originating within the brain. HP:0010575 Dysplasia of the femoral head biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010575 UMLS:C4021251|UMLS:C4280377 Abnormality of femoral head development|Dysplastic femoral head The presence of developmental dysplasia of the femoral head. HP:0010574 Abnormality of the epiphysis of the femoral head biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010574 UMLS:C4021252 Abnormality of the end part of the innermost thighbone|Abnormality of the proximal femoral epiphysis Any abnormality of the proximal epiphysis of the femur. HP:0010571 Elevated levels of phytanic acid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010571 UMLS:C4023786 Elevated levels of phytanic acid An abnormal elevation of phytanic acid. HP:0010570 Low maternal serum alpha-fetoprotein biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010570 UMLS:C4023787 Low maternal serum alpha-fetoprotein An abnormally low concentration of serum alpha-fetoprotein as compared to normal values for gestational-age. HP:0010579 Cone-shaped epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010579 UMLS:C1865037 Cone-shaped epiphyses|Cone-shaped end part of bone Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery. HP:0010578 Bracket epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010578 UMLS:C4023785 Bracket shaped end part of long bone HP:0009599 Abnormality of thumb epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009599 UMLS:C4021429 Abnormality of the epiphyses of the thumb|Abnormality of thumb epiphyses|Abnormality of end part of thumb long bone Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal. HP:0009598 Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009598 UMLS:C4024274 Fused innermost bone of index finger with 2nd long bone of hand Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal. HP:0046502 Anorgasmia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0046502 Inability of individual to reach orgasm. HP:0008269 Increased red cell hemolysis by shear stress biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008269 UMLS:C3806125 HP:0046503 Increased libido biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0046503 Elevated sexual desire. HP:0009595 Occasional neurofibromas biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009595 UMLS:C3810474 Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1. HP:0008264 Neutrophil inclusion bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008264 UMLS:C4021547 The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies. HP:0009594 Retinal hamartoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009594 UMLS:C1863411 A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina. HP:0008263 Thyroid defect in oxidation and organification of iodide biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008263 UMLS:C1848800 HP:0009597 Short proximal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009597 UMLS:C4021430 Short proximal index finger phalanx|Hypoplastic/small proximal phalanx of the 2nd finger|Short proximal phalanx of the second finger Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger. HP:0008265 Mitochondrial lysine transport defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008265 UMLS:C4024715 HP:0009596 Aplasia of the proximal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009596 UMLS:C4024275 Absent innermost bone of index finger Absence of the proximal phalanx of the 2nd finger. HP:0011818 Nasofrontal encephalocele biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011818 UMLS:C0431291|SNOMEDCT_US:253106003 Naso-frontal encephalocele HP:0011819 Submucous cleft soft palate biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011819 UMLS:C4023175 Submucous cleft velum|Partial thickness cleft soft palate A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue. HP:0011810 Impaired two-point discrimination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011810 UMLS:C4023178 A reduced ability to distinguish tactile sensations at points that are very close to one another. This can be tested by using special calipers whose points can be set from 2mm to several centimeters apart. HP:0011811 Impaired touch localization biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011811 UMLS:C4021120 Impaired topognosis|Impaired touch localisation 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. HP:0011812 Agraphesthesia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011812 UMLS:C1328618 Impaired ability to recognize letters or numbers drawn by an examiner's fingertip on the patient's skin (the patients eyes are closed or covered throughout this examination). HP:0011813 Increased cerebral lipofuscin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011813 UMLS:C4023177 Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. HP:0011814 Increased urinary hypoxanthine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011814 UMLS:C3810487 An increased level of hypoxanthine in the urine. HP:0011815 Cephalocele biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011815 SNOMEDCT_US:253101008|SNOMEDCT_US:48777005|UMLS:C0014065|MSH:D004677|SNOMEDCT_US:55999004 A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect. HP:0011816 Parietal encephalocele biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011816 UMLS:C0431294|SNOMEDCT_US:253109005 An encephalocele located between bregma and lambda. HP:0011817 Basal encephalocele biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011817 UMLS:C4023176 Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares. HP:0011807 Type 1 muscle fiber atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011807 UMLS:C4023180 Type 1 muscle fibre atrophy Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy. HP:0011808 Decreased patellar reflex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011808 UMLS:C3277184 Decreased knee jerk reflex|Decreased patellar reflexes Decreased intensity of the patellar reflex (also known as the knee jerk reflex). HP:0011809 Paradoxical myotonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011809 UMLS:C4023179 A type of myotonia that worsens with repeated muscle contractions. HP:0011800 Midface retrusion biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011800 UMLS:C4280320|UMLS:C1853242|UMLS:C2673410|UMLS:C4280321 Underdevelopment of midface|Midface hypoplasia|Decreased size of midface|Midface retrusion|Hypotrophic midface|Small midface|Decreased projection of midface|Midface deficiency|Retrusive midface|Hypoplasia of midface|Flat midface|Midface, flat Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. HP:0011801 Enlargement of parotid gland biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011801 SNOMEDCT_US:29748005|UMLS:C0341047 Increased size of parotid gland|Hyperplasia of parotid gland|Hypertrophy of parotid gland Increased size of the parotid gland. HP:0011802 Hamartoma of tongue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011802 SNOMEDCT_US:253753005|UMLS:C0431565 Lingual hamartoma A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue. HP:0011803 Bifid nose biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011803 UMLS:C4280319|MSH:C535441|UMLS:C4280318|UMLS:C0221363|SNOMEDCT_US:204521002 Bifid nasal bridge|Indentation or clefting of the nose|Indented bridge of nose|Cleft nose|Cleft nasal bridge Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip. HP:0011804 Abnormal muscle physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011804 UMLS:C4023182 Issue with muscle function|Abnormality of muscle physiology A functional abnormality of a skeletal muscle. HP:0011805 Abnormal skeletal muscle morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011805 UMLS:C4023181 Abnormal muscle morphology|Issue with muscle structure|Abnormally shaped muscle|Abnormality of muscle morphology A structural abnormality of a skeletal muscle. HP:0011850 Parotitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011850 SNOMEDCT_US:14756005|MSH:D010309|UMLS:C0030583 Inflammation of the parotid gland. HP:0011851 Hemopericardium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011851 UMLS:C0019064|SNOMEDCT_US:23412002|MSH:D010490 Accumulation of blood within the pericardial sac. HP:0011852 Chylopericardium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011852 SNOMEDCT_US:233890005|UMLS:C0242426|MSH:D010490 Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct. HP:0011853 Serous pericardial effusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011853 UMLS:C4023160 Accumulation of serous fluid (pale yellow and transparent fluid) in the pericardial sac. HP:0010522 Dyslexia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010522 MSH:D004410|UMLS:C0476254|SNOMEDCT_US:52824009|SNOMEDCT_US:9236007|SNOMEDCT_US:59770006 Reading disability A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent). HP:0010521 Gait apraxia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010521 UMLS:C1510417|MSH:D020235|SNOMEDCT_US:30767006 Gait apraxia affecting the ability to make walking movements with the legs. HP:0010529 Echolalia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010529 MSH:D004454|SNOMEDCT_US:64712007|UMLS:C0013528|UMLS:C4280380 Repeated speech|Echoing another person's speech|Echologia|Echophrasia The tendency to repeat vocalizations made by another person. HP:0009529 Irregular epiphysis of the proximal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009529 UMLS:C4024307 Irregular end part of innermost long bone of index finger HP:0010528 Prosopagnosia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010528 SNOMEDCT_US:18358003|MSH:D020238|UMLS:C0234512 Face blindness|Facial agnosia Inability to recognize faces of familiar persons. HP:0010527 Astereognosia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010527 SNOMEDCT_US:25094008|MSH:D000377|UMLS:C0234505 Astereognosis|Somatosensory agnosia Inability to recognize the form of objects by touch without visual input. That is, an impairment in the recognition of objects based only on the texture, size, weight and three-dimensional form of the object in the absence of any major somatosensory deficit. HP:0009526 Cone-shaped epiphysis of the proximal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009526 UMLS:C4021456 Cone-shaped epiphysis of proximal index finger phalanx|Cone-shaped end part of innermost long bone of index finger HP:0010526 Dysgraphia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010526 SNOMEDCT_US:88278002|MSH:D000381|UMLS:C0234144 A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment. HP:0010525 Finger agnosia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010525 SNOMEDCT_US:3449007|MSH:D000377|UMLS:C0234509 An inability or difficulty differentiating among the fingers of either hand as well as the hands of others. HP:0009525 Bracket epiphysis of the proximal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009525 UMLS:C4021457 Bracket shaped end part of innermost long bone of index finger|Bracket epiphyses of proximal index finger phalanx An abnormality of the proximal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. HP:0009528 Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009528 UMLS:C4024308 Fragmentation of end part of innermost long bone of index finger HP:0010524 Agnosia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010524 UMLS:C0001816|MSH:D000377|SNOMEDCT_US:42341009 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. HP:0009527 Enlarged epiphysis of the proximal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009527 UMLS:C4021455 Enlarged end part of innermost long bone of index finger|Large epiphysis of proximal index finger phalanx HP:0010523 Alexia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010523 MSH:D004410|UMLS:C0002018|SNOMEDCT_US:9236007 Word blindness|Text blindness An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read. HP:0011854 Hemoperitoneum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011854 SNOMEDCT_US:443826006|UMLS:C0019065|UMLS:C0744735|SNOMEDCT_US:45626005|MSH:D006465 Hematoperitoneum Accumulation of blood in the peritoneal cavity owing to internal hemorrhage. HP:0009522 Stippling of the epiphysis of the middle phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009522 UMLS:C4024311 Speckled calcifications in end part of the middle bone of the index finger HP:0011855 Pharyngeal edema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011855 SNOMEDCT_US:2129002|UMLS:C0236024 Pharyngeal oedema|Throat swelling|Swollen throat Abnormal accumulation of fluid leading to swelling of the pharynx. HP:0009521 Small epiphysis of the middle phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009521 UMLS:C4024312 Small end part of the innermost long bone of index finger HP:0011856 Pica biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011856 SNOMEDCT_US:14077003|MSH:D010842|UMLS:C0031873 An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month. HP:0009524 Absent epiphysis of the proximal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009524 UMLS:C4024309 Absent end part of innermost long bone of index finger HP:0011857 Plasmacytoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011857 SNOMEDCT_US:415112005|MSH:D010954|SNOMEDCT_US:10639003|UMLS:C0032131 A discrete mass of neoplastic monoclonal plasma cells either in the bone marrow or in an extramedullary location. HP:0009523 Triangular epiphysis of the middle phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009523 UMLS:C4024310 Triangular end part of the middle bone of the index finger HP:0011858 Reduced factor IX activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011858 UMLS:C4023159 Low factor IX activity Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. HP:0011859 Punctate keratitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011859 UMLS:C1562761|SNOMEDCT_US:416300008 A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium. HP:0009520 Pseudoepiphysis of the middle phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009520 UMLS:C4024313 A secondary ossification center in the middle phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. HP:0011840 Abnormality of T cell physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011840 UMLS:C4023166 A functional anomaly of T cells. HP:0011841 Ventricular flutter biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011841 MSH:D054141|UMLS:C0152173|SNOMEDCT_US:111288001 A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance. HP:0011842 Abnormality of skeletal morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011842 UMLS:C4023165 Abnormally shaped skeletal An abnormality of the form, structure, or size of the skeletal system. HP:0010511 Long toe biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010511 UMLS:C3150613 Increased length of toes|Long toe|Long toes Toes that appear disproportionately long compared to the foot. HP:0010510 Hypermobility of toe joints biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010510 UMLS:C4023798 An ability of the toe joints to move beyond their normal range of motion. HP:0010519 Increased fetal movement biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010519 UMLS:C4021256 Fetal hyperkinesia|Increased foetal movement An abnormal increase in quantity or strength of fetal movements. HP:0010518 Thyroglossal cyst biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010518 UMLS:C0040124|MSH:D013955|SNOMEDCT_US:39462005 Thyroglossal duct cyst An abnormality of the thyroid gland owing to the presence of a fibrous cyst resulting from the persistence of the thyroglossal duct. HP:0008209 Premature ovarian insufficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008209 UMLS:C0085215|MSH:D008594|UMLS:C0025322|MSH:D016649|SNOMEDCT_US:373717006 Premature menopause|Early menopause|Climacterium praecox|Premature ovarian failure|Primary ovarian insufficiency|Menopause praecox|Hypergonadotropic amenorrhea 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. HP:0010517 Ectopic thymus tissue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010517 UMLS:C4023795 Abnormal thymus position The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend. HP:0010516 Thymus hyperplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010516 UMLS:C0040115|MSH:D013952 Thymic hyperplasia|Enlarged thymus Enlargement of the thymus. HP:0010515 Aplasia/Hypoplasia of the thymus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010515 UMLS:C4023796|UMLS:C3278004 Absent/small thymus|Absent/underdeveloped thymus|Thymic hypoplasia or aplasia Absence or underdevelopment of the thymus. HP:0009537 Flexion contracture of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009537 UMLS:C4021452 Joint contractures 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. HP:0009536 Short 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009536 UMLS:C1862142 Hypoplastic index finger phalanges|Short index finger phalanges|Hypoplastic/small index finger|Short index fingers|Short index finger Hypoplasia of the second finger, also known as the index finger. HP:0010514 Hyperpituitarism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010514 SNOMEDCT_US:10649000|MSH:D006964|UMLS:C0020506 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. HP:0008205 Insulin-dependent but ketosis-resistant diabetes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008205 UMLS:C1842404 Ketosis-resistant diabetes is a synonym for type II diabetes. This term thus refers to a form of type II diabetes in which patients are dependent on insulin. HP:0008208 Parathyroid hyperplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008208 UMLS:C0271844|SNOMEDCT_US:9092004 Enlarged parathyroid glands Hyperplasia of the parathyroid gland. HP:0009539 Contracture of the metacarpophalangeal joint of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009539 UMLS:C4024301 Chronic loss of joint motion of the metacarpophalangeal joint of the 2nd finger due to structural changes in non-bony tissue. HP:0010513 Pituitary calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010513 UMLS:C4023797 Deposition of calcium salts in the pituitary gland. HP:0009538 Contracture of the distal interphalangeal joint of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009538 UMLS:C4024302 Chronic loss of joint motion of the distal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue. HP:0008207 Primary adrenal insufficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008207 UMLS:C0405580|MSH:D000224|SNOMEDCT_US:373662000|SNOMEDCT_US:363732003|UMLS:C0001403|SNOMEDCT_US:386584007 Addison's disease|Addison disease|Adrenocortical insufficiency|Primary adrenocortical failure Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves. HP:0010512 Adrenal calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010512 SNOMEDCT_US:12286000|UMLS:C0271750 Calcification within the adrenal glands. HP:0008202 Reduced circulating prolactin concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008202 MSH:C562708|SNOMEDCT_US:67873006|UMLS:C0271586 Prolactin deficiency A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production. HP:0009533 Stippling of the epiphysis of the proximal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009533 UMLS:C4024303 Speckled calcifications in end part of the innermost long bone of index finger HP:0011843 Abnormality of musculoskeletal physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011843 UMLS:C4023164 An abnormality of the function of the skeletal system. HP:0011844 Abnormal appendicular skeleton morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011844 UMLS:C4023163 An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles. HP:0009532 Small epiphysis of the proximal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009532 UMLS:C4024304 Small end part of proximal long bond of index finger HP:0009535 Aplasia of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009535 UMLS:C4021453 Absent index finger phalanges|Absent index finger|Aplasia of the index finger Absent 2nd (index) finger. HP:0008204 Precocious puberty with Sertoli cell tumor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008204 UMLS:C1868007 Precocious puberty with Sertoli cell tumour HP:0011845 Short second metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011845 UMLS:C4023162 Short 2nd long bone of foot Short (hypoplastic) second metatarsal bone. HP:0011846 Osteoblastoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011846 UMLS:C0029417|SNOMEDCT_US:55333008|MSH:D018215 A benign, painful, tumor of bone characterized by the formation of osteoid tissue, primitive bone and calcified tissue. HP:0009534 Triangular epiphysis of the proximal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009534 UMLS:C4021454 Triangular epiphysis of proximal index finger phalanx|Triangular end part of innermost long bone of index finger HP:0011847 Giant cell tumor of bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011847 UMLS:C0206638|SNOMEDCT_US:57500000|SNOMEDCT_US:697970009|MSH:D018212 Giant cell tumour of bone A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts. HP:0011848 Abdominal colic biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011848 UMLS:C0232488|SNOMEDCT_US:9991008|MSH:D003085 A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity. HP:0008200 Primary hyperparathyroidism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008200 SNOMEDCT_US:36348003|UMLS:C0221002|MSH:D049950 A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia. HP:0011849 Abnormal bone ossification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011849 MP:0008271|UMLS:C4023161|UMLS:C4280317 Abnormal bone maturation Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. HP:0009531 Pseudoepiphysis of the proximal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009531 UMLS:C4024305 A secondary ossification center in the proximal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. HP:0009530 Ivory epiphysis of the proximal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009530 UMLS:C4024306 Increased bone density of end part of the innermost bone of the index finger HP:0011830 Abnormal oral mucosa morphology biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011830 UMLS:C4023170 Abnormality of mucosa of mouth|Abnormality of lining of mouth|Abnormality of oral mucosa|Abnormality of oral mucous membrane Abnormality of the oral mucosa. HP:0011831 Deviated nasal tip biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011831 UMLS:C4280271|UMLS:C4021114 Asymmetry of nasal tip|Distortion of the nasal tip|Deviated nasal tip|Crooked tip of nose|Asymmetry of tip of nose|Deviated tip of nose|Crooked nasal tip|Nasal tip, deviated Nasal tip positioned to one side of the midline. HP:0010500 Hyperextensibility of the knee biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010500 UMLS:C4023802 The ability of the knee joint to extend beyond its normal range of motion (the lower leg is moved beyond a straight position with respect to the thigh). HP:0009508 Ivory epiphysis of the distal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009508 UMLS:C4021460 Increased bone density of end part of the outermost bone of the index finger|Ivory epiphysis of terminal index finger phalanx Sclerosis of the epiphysis of the distal phalanx of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. HP:0010508 Metatarsus valgus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010508 MSH:D000070591|UMLS:C4082144 A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight. HP:0010507 Foot asymmetry biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010507 UMLS:C4023799 A difference in size or shape between the left and right foot. HP:0009507 Irregular epiphysis of the distal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009507 UMLS:C4024323 Irregular end part of the outermost bone of the index finger Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger. HP:0010506 Abnormal plantar dermatoglyphics biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010506 UMLS:C4021258 Abnormal prints on feet|Abnormal dermatoglyphics on feet An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot. HP:0009509 Pseudoepiphysis of the distal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009509 UMLS:C4024322 A secondary ossification center in the distal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. HP:0010505 Limitation of movement at ankles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010505 UMLS:C4023800 An abnormal limitation of the mobility of the ankle joint. HP:0010504 Increased length of the tibia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010504 UMLS:C4021864 Increased length of shankbone|Increased length of shinbone An abnormal increase in the length of the tibia. HP:0009504 Cone-shaped epiphysis of the distal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009504 UMLS:C4024326 Cone-shaped end part of the outermost bone of the index finger A cone-shaped appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. HP:0009503 Bracket epiphysis of the distal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009503 UMLS:C4024327 Bracket shaped end part of the outermost bone of the index finger An abnormality of the distal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. HP:0010503 Fibular duplication biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010503 UMLS:C3276742 Duplicated calf bone Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition. HP:0010502 Fibular bowing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010502 UMLS:C4023801 Bowed calf bone A bending or abnormal curvature of the fibula. HP:0009506 Fragmentation of the epiphysis of the distal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009506 UMLS:C4024324 Fragmentation of end part of the outermost bone of the index finger Fragmented appearance of the epiphysis of the distal phalanx of the 2nd finger. HP:0009505 Enlarged epiphysis of the distal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009505 UMLS:C4024325 Enlarged end part of the outermost bone of the index 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. HP:0010501 Limitation of knee mobility biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010501 UMLS:C4021259 Limited knee movement|Limitation of knee mobility An abnormal limitation of knee joint mobility. HP:0011832 Narrow nasal tip biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011832 UMLS:C0426433|SNOMEDCT_US:249331008 Thin tip of nose|Nasal tip, narrow|Narrow nasal tip|Pinched tip of nose|Thin nasal tip|Nasal tip, pinched|Pinched nasal tip|Narrow tip of nose Decrease in width of the nasal tip. HP:0009500 Abnormality of the epiphysis of the middle phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009500 UMLS:C4021463 Epiphyseal abnormality of middle phalanx of the 2nd finger|Abnormality of end part of the middle bone of the index finger HP:0011833 Overhanging nasal tip biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011833 SNOMEDCT_US:249328007|UMLS:C0426430 Drooping nasal tip|Nasal tip, overhanging|Hooked tip of nose|Overhanging nasal tip|Low hanging nasal tip Positioning of the nasal tip inferior to the nasal base. HP:0011834 Moyamoya phenomenon biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011834 UMLS:C4023169 A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis. HP:0009502 Absent epiphysis of the distal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009502 UMLS:C4021461 Absent ossification/absent epiphysis of terminal index finger phalanx|Absent end part of the outermost bone of the index finger Absence of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger. HP:0011835 Absent scaphoid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011835 UMLS:C1847189 Absent scaphoid bone|Missing scaphoid bone Congenital absence of the scaphoid.. HP:0009501 Abnormality of the epiphysis of the proximal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009501 UMLS:C4021462 Epiphyseal abnormality of the proximal phalanx of the 2nd finger HP:0011836 Delayed talus ossification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011836 UMLS:C4023168 Delayed maturation and calcification of the talus. HP:0011837 Partial IgA deficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011837 UMLS:C4023167 Detectable but decreased IgA levels that are more than 2 standard deviations below normal age-adjusted means. HP:0011838 Sclerodactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011838 SNOMEDCT_US:201051000|UMLS:C0150988|SNOMEDCT_US:298285004|ICD-10:L94.3 Localized thickening and tightness of the skin of the fingers or toes. HP:0011839 Abnormal T cell count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011839 UMLS:C4021113 Abnormal number of T cells|Abnormality of T cell number A deviation from the normal count of T cells. HP:0010509 Aplasia of the tarsal bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010509 UMLS:C4021257 Absent tarsals|Absent ankle bone Absence of the tarsal bones. HP:0011820 Membranous choanal atresia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011820 UMLS:C4023174 Absence of the normal opening of the choana (the posterior nasal aperture) as a result of an obstructing choanal membrane that may be thin and strandlike or thick and pluglike. HP:0011829 Narrow philtrum biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011829 UMLS:C4021115 Decreased transverse dimension of philtrum|Philtrum, Narrow|Decreased width of philtrum|Decreased horizontal dimension of philtrum|Thin philtrum|Decreased breadth of philtrum Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum. HP:0009519 Ivory epiphysis of the middle phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009519 UMLS:C4024314 Increased bone density of end part of the middle bone of the index finger HP:0009518 Irregular epiphysis of the middle phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009518 UMLS:C4024315 Irregular end part of the middle long bone of the index finger HP:0009515 Cone-shaped epiphysis of the middle phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009515 UMLS:C4021458 Cone-shaped end part of the middle long bone of the index finger|Cone-shaped epiphyses of middle phalanx of index finger HP:0009514 Bracket epiphysis of the middle phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009514 UMLS:C4024318 Bracket shaped end part of the middle long bone of the index finger An abnormality of the middle phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. HP:0009517 Fragmentation of the epiphysis of the middle phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009517 UMLS:C4024316 Fragmentation of end part of the middle long bone of the index finger HP:0009516 Enlarged epiphysis of the middle phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009516 UMLS:C4024317 Enlarged end part of the middle bone of the index finger HP:0011821 Abnormality of facial skeleton biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011821 UMLS:C2315229|SNOMEDCT_US:433096001 Deformity of the facial bones|Anomaly of facial skeleton|Malformation of facial skeleton|Anomaly of facial bones|Deformity of facial skeleton|Abnormality of facial skeleton|Abnormality of facial bones|Malformation of facial bones An abnormality of one or more of the set of bones that make up the facial skeleton. HP:0009511 Stippling of the epiphysis of the distal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009511 UMLS:C4024320 Speckled calcifications in end part of the outermost bone of the index finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd finger. HP:0011822 Broad chin biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011822 UMLS:C4023172 Wide chin|Increased width of menton region|Increased width of chin|Broad chin Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue. HP:0009510 Small epiphysis of the distal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009510 UMLS:C4024321 Small end part of the outermost bone of the index finger Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms. HP:0011823 Chin with horizontal crease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011823 UMLS:C4023171 Horizontal menton crease|Horizontal chin skin cleft|Chin with horizontal groove|Chin with horizontal sulcus|Chin with horizontal furrow|Chin with horizontal crease Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest. HP:0009513 Absent epiphysis of the middle phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009513 UMLS:C4021459 Absent epiphyses of middle phalanx of index finger|Missing end part of the middle long bone of the index finger HP:0009512 Triangular epiphysis of the distal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009512 UMLS:C4024319 Triangular end part of the outermost bone of the index finger A triangular appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. HP:0011824 Chin with H-shaped crease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011824 UMLS:C1860309 Chin, H-shaped groove|Chin, H-Shaped Crease|H-shaped dimple of the chin|Chin with H-shaped crease H-shaped crease in the fat pad of the chin. HP:0011825 Tented philtrum biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011825 UMLS:C4021119 Philtrum, Tented Prominence of a triangular soft tissue area of the philtrum with the apex to the columella. HP:0011826 Philtrum with midline raphe biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011826 UMLS:C4021118 Philtrum with midline ridge|Philtrum with central raphe|Philtrum, midline raphe Narrow ridge in the midline of the philtral groove. HP:0011827 Malaligned philtral ridges biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011827 UMLS:C4021117 Asymmetric philtral ridges|Philtral Ridges, Malaligned|Malaligned philtral columns|Asymmetric philtral columns Absence of the usual parallel position of philtral ridges. HP:0011828 Midline sinus of philtrum biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011828 UMLS:C4021116 Central sinus of philtrum|Philtrum, Midline Sinus Pit in the midline of the philtral groove. HP:0033161 Abnormal urinary purine level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033161 Any deviation from the normal amount of a purine compound in the urine. Purines are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. Two of the four deoxyribonucleotides (deoxyadenosine and deoxyguanosine) and two of the four ribonucleotides (adenosine, or AMP, and guanosine, or GMP) are purines. HP:0033160 Decreased urinary guanosine level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033160 Decreased level of guanosine in urine. Guanosine is a purine nucleoside in which guanine is attached to ribofuranose via a beta-N(9)-glycosidic bond. HP:0033163 Small intestinal bacterial overgrowth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033163 An increased number and/or abnormal type of bacteria in the small bowel. Small intestinal bacterial overgrowth has been defined as the presence of greater than one hundred thousand bacteria (i.e. colony-forming units, CFU) per mL of proximal jejunal aspiration. The normal value is ten thousand or few CFU/ml. HP:0033162 Abnormal urinary pyrimidine level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033162 Any deviation from the normal amount of a pyrimidine compound in the urine. Pyrimidines and pyrimidine derivatives are compounds containing a pyrimidne ring, which is a six-member aromatic heterocycle which consists of two nitrogen atoms (at positions 1 and 3) and four carbon atoms. The nucleotides cytosine, thymine and uracil are pyrimidines. HP:0033169 Reduced total lung capacity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033169 Abnormally reduced volume of air in the lungs upon the maximum effort of inspiration.|Reduced TLC HP:0033168 Reduced mevalonate kinase activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033168 Abnormally reduced activity of mevalonate kinase, ,which is a key enzyme in the mevalonate biosynthetic pathway that leads to the synthesis of both cholesterol and nonsterol isoprenoids. HP:0033165 Necrotizing enterocolitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033165 Inflammation of the intestine leading to bacterial invasion causing cellular damage and death which causes necrosis of the colon and intestine. HP:0033164 Focal active colitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033164 Focal active colitis (FAC) is characterized by focal crypt damage caused by neutrophils. FAC is characterized by an inflammatory infiltrate consisting of intraepithelial neutrophils and/or neutrophils invading the lumen of the criptae, with no other microscopic alteration of the colonic mucosa and, in particular, without the presence of signs of chronic inflammation. HP:0033167 Neutrophilic urticarial dermatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033167 A neutrophilic interstitial, perivascular and/or perieccrine infiltrate with leukocytoclasia. Notably, leukocytoclastic vasculitis is not present. HP:0033166 Recurrent viral upper respiratory tract infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033166 An increased susceptibility to viral upper respiratory tract infections as manifested by a history of recurrent viral upper respiratory tract infections (otitis, sinusitis, pharyngitis, tonsillitis). HP:0008198 Congenital hypoparathyroidism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008198 UMLS:C1455734 Neonatal hypoparathyroidism Deficiency of parathyroid hormone with congenital onset. HP:0008197 Absence of pubertal development biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008197 UMLS:C1846228 HP:0033172 Increased triceps skinfold thickness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033172 Increased thickness of the triceps skinfold, which is measured halfway down the back of the upper arm is increased. HP:0033171 Abnormal triceps skinfold thickness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033171 Any deviation from the normal range of the thickness of the tricpes skinfold, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers. HP:0033174 Bloody bronchoalveolar lavage fluid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033174 Return of lavage fluid characteristically has a bloody apperance in pulmonary alveolar hemorrhage. This is due to admixture of blood, which typically increases with each consecutive lavage portion. Microscopically erythrocytes can be seen. After 24 to 48 h macrophages contain phagocytosed erythrocytes, indicating previous bleeding. HP:0033173 Milky appearance of bronchoalveolar lavage fluid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033173 Return of lavage fluid with a milky apperance due to the accumulation of a mixture of pulmonary surfactant, which is a lipoprotein complex, in the alveolar space. HP:0033170 Abnormal skinfold thickness measurement biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033170 Any deviation from the normal range of a skinfold thickness, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers. HP:0033179 Elevated circulating aconitic acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033179 An increased concentration of aconitic acid in the blood circulation. HP:0033176 Submandibular lymph node enlargement biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033176 Submandibular lymphadenopathy Increased size of the lymph nodes that are located beneath the mandible (lower jaw). HP:0033175 Elevated circulating 5-oxoproline concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033175 Elevated circulating L-pyroglutamic acid concentration Concentration of L-pyroglutamic acid in the blood is above the normal range. HP:0033178 Increased circulating interleukin 8 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033178 Increased serum IL-8|Increased serum interleukin 8|Increased serum interleukin-8 An increased concentration of interleukin-8 in the circulation. HP:0033177 Elevated circulating suberic acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033177 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. HP:0033183 Bilobed right lung biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033183 A developmental defect of pulmonary lobation characterized by the presence of only two lobes of the right lung. HP:0008182 Adrenocortical hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008182 UMLS:C4024719 Small adrenal cortex HP:0033182 Increased circulating cathepsin D level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033182 An increase in concentration of cathepsin D in the blood circulation. HP:0033185 Triggered by EBV infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033185 Triggered by Epstein Barr virus infection Applies to a sign or symptom that is provoked or brought about by infection by the Epstein-Barr virus. HP:0008185 Precocious puberty in males biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008185 UMLS:C1859979 Male precocious puberty|Early onset of puberty in males The onset of puberty before the age of 9 years in boys. HP:0033184 Triggered by infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033184 HP:0008181 Abetalipoproteinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008181 MSH:D000012|SNOMEDCT_US:190787008|UMLS:C0000744 An absence of low-density lipoprotein cholesterol in the blood. HP:0033181 Spinal epidural abscess biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033181 A severe pyogenic infection of the epidural space. HP:0008180 Mildly elevated creatine kinase biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008180 UMLS:C1850309 Mildly elevated serum CK|Mildly elevated serum CPK|Mildly elevated creatine phosphokinase|Moderately increased serum creatine kinase|Mildly increased serum creatine kinase|Mildly elevated CPK|Moderately elevated serum CK|Mildly elevated serum phospho-CK|Mildly increased creatine kinase|Moderately elevated serum CPK HP:0033180 Torsion of appendix of testis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033180 Twisted vestigial remnant of the Muellerian duct The appendix testis or hydatid of Morgagni, is a vestigial remnant of the Müllerian duct located on the superior pole of the testicle between the testis and epididymis. Although this appendage has no vital function, it is present in 50% of males. Torsion of twisting of this vestigial remnant can be incredibly painful, but usually requires no medical intervention. HP:0033187 Hyperimidodipeptiduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033187 Imidodipeptiduria Elevated levels of proline-containing dipeptides in urine. HP:0033186 Misalignment of the pulmonary veins biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033186 The term is commonly used to describe a putative abnormal location of pulmonary vein branches adjacent to pulmonary arteries within the same adventitial sheath. However, evidence has been provided that the vessels in question are not pulmonary veins, however represent dilated bronchial veins. HP:0033189 Radiculomegaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033189 Long dental root|Root gigantism Elongated tooth root. HP:0033188 Cystic acne biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033188 A severe type of acne characterized by the formation of cysts enclosing a mixture of keratin and sebum. HP:0008179 Decreased Arden ratio of electrooculogram biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008179 UMLS:C4024720 Decreased Arden ratio of EOG An abnormal reduction in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record. HP:0008176 Neonatal unconjugated hyperbilirubinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008176 SNOMEDCT_US:281611002|UMLS:C0559506 HP:0008178 Abnormal cartilage matrix biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008178 UMLS:C4024721 HP:0008194 Multiple pancreatic beta-cell adenomas biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008194 UMLS:C4024718 The presence of multiple pancreatic islet cell adenomas. HP:0010492 Osseous finger syndactyly biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010492 SNOMEDCT_US:2560006|UMLS:C0158736 Osseous syndactyly of the fingers Webbing or fusion of the fingers, involving soft parts and including fusion of individual finger bones. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism". HP:0033194 Perioral erythema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033194 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. HP:0008193 Primary gonadal insufficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008193 UMLS:C1859014 HP:0033193 Ballooning hepatocyte degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033193 Ballooning degeneration of hepatocytes Swelling of the hepatocyte, rounding of its contour, and alteration of the cytoplasm, which takes on a reticulated, rarified, or flocculant quality. The cytoplasm of the ballooned hepatocytes often contains clumps of eosinophilic ropey material known as Mallory-Denk bodies (MDBs) or Mallory hyaline, which is composed of hyperphosphorylated misfolded intermediate filaments, ubiquitin, and ubiquitin-binding protein P62. HP:0010491 Digital constriction ring biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010491 UMLS:C4021261 Amniotic constriction rings of digits A narrow segment of significantly reduced circumference of a digit. HP:0010490 Abnormality of the palmar creases biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010490 UMLS:C0221199|SNOMEDCT_US:205557000 Abnormality of the palm lines An abnormality of the creases of the skin of palm of hand. HP:0033196 Portal inflammation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033196 Hepatic portal inflammation Infiltration of portal fields by inflammatory cells. HP:0033195 Perianal erythema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033195 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. HP:0033190 Hypertrichotic hyperpigmented patch biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033190 Cutaneous hyperpigmentation with overlying hypertrichosis A large nonpalpable spot of the skin over 1 cm in dimension with increased pigmentation and increased hair growth. HP:0033192 Decreased circulating selenium concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033192 An abnormally reduced concentration of selenium in the blood circulation. HP:0008191 Thyroid agenesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008191 UMLS:C4020805|UMLS:C0749420|MSH:D050033 Athyroidal hypothyroidism The congenital absence of the thyroid gland. HP:0033191 Increased circulating selenium concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033191 An increased concentration of selenium in the blood circulation. HP:0010499 Patellar subluxation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010499 UMLS:C0857276 Partial knee cap dislocation|Subluxation of patella The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella. HP:0010498 Bipartite patella biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010498 SNOMEDCT_US:79214007|UMLS:C0265666 A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood. HP:0010497 Sirenomelia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010497 SNOMEDCT_US:67254002|MSH:D004480|UMLS:C0037205|MEDDRA:10049216|SNOMEDCT_US:91089008|SNOMEDCT_US:253191000 Sympodia A developmental defect in which the legs are fused together. HP:0010496 Hypertrophy of the lower limb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010496 UMLS:C4023803 Abnormal increase in size of the lower limbs (due to an increase of the size of cells). HP:0033198 Triggered by viral infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033198 Applies to a sign or symptom that is provoked or brought about by infection by a virus. HP:0010495 Amniotic constriction rings of legs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010495 UMLS:C4023804 Amniotic constriction rings affecting the legs. HP:0033197 Hepatic lobular inflammation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033197 Infiltration of inflammatory cells in lobules of the liver. A focus of lobular inflammation can be defined as two or more inflammatory cells (neutrophils, lymphocytes and other mononuclear cells, eosinophils and microgranulomas) within the lobule present within the sinusoids or surrounding injured hepatocytes (ballooned or apoptotic hepatocytes). HP:0010494 Acromelia of the lower limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010494 UMLS:C4023805 Shortening of the legs predominantly affecting terminal parts of the leg in relation to the upper and middle arm segments. HP:0033199 Increased circulating interleukin 10 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033199 Increased serum interleukin 10 An elevation of the concentration of interleukin 10 in the blood circulation. HP:0010493 Long metacarpals biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010493 UMLS:C4021260 Increased length of metacarpals|Elongated long bone of hand An abnormally increased length of the metacarpal bones. HP:0008187 Absence of secondary sex characteristics biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008187 UMLS:C4021551 No secondary sexual characteristics at puberty No secondary sexual characteristics are present at puberty. HP:0008186 Adrenocortical cytomegaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008186 UMLS:C1851720 The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex. HP:0008189 Insulin insensitivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008189 UMLS:C1864570 Decreased sensitivity toward insulin. HP:0008188 Thyroid dysgenesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008188 UMLS:C1563716|MSH:D050033 Thyroid dysplasia HP:0033125 Follicular lymphoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033125 An indolent B cell lymphoproliferative disorder of transformed follicular center B cells. Follicular lymphoma is characterized by diffuse lymphadenopathy, bone marrow involvement, splenomegaly and less commonly other extranodal sites of involvement. HP:0033124 Increased serum sorbitol concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033124 An increased level of sorbitol in the blood circulation. HP:0033127 Abnormality of the musculoskeletal system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033127 An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body. HP:0033126 Cutaneous necrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033126 Skin necrosis Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red coloured skin. HP:0033121 Barking cough biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033121 Seal-like barking cough A cough with a characteristic sound that has been compared to a seal's bark. HP:0033120 Nummular eczema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033120 Nummular dermatitis|Discoid 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 HP:0033123 Elevated circulating osteopontin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033123 Abnormally increased level of osteopontin in the blood circulation HP:0033122 Absent P wave biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033122 Absence of P wave on electrocardiography The P wave that normally precedes each QRS complex by a fixed PR interval of 120 to 200 milliseconds is not present. HP:0033129 Abnormal shoulder physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033129 Anopmalous function of the shoulder. The shoulder is a ball-and-socket joint that is made up of humerus, scapula and clavicle, which are connected by the sternoclavicular joint (SC), the acromioclavicular joint (AC), the glenohumeral joint (GH), and the scapulothoracic joint (ST). The GH, AC and SC joints link the upper extremity to the axial skeleton at the thorax and enable movement at the shoulder joint: flexion, extension, and rotation of the arm. HP:0033128 Delayed ability to crawl biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033128 A failure to achieve the ability to crawl at an appropriate developmental stage. Normal infant motor development is marked by a series of postural milestones including learning to crawl on hands and knees between the ages of 6 and 10 months. HP:0033130 Abnormal renal echogenicity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033130 Anomalous echogenicity of the kidney on ultrasound examination. HP:0033136 Lymph node abscess biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033136 An inflammed lymph node that is filled with pus. HP:0033135 Hepatic infarction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033135 Hepatic infarction is defined as areas of coagulative necrosis from hepatocyte cell death caused by local ischemia. Liver infarctions appear as hypoechoic nonvascular regions on conventional and Doppler sonography. HP:0033138 Right atrial thrombus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033138 A thrombus (i.e., a blood clot formed in situ within the vascular system) located in the right atrium of the heart. HP:0033137 Abnormal pulmonary alveolar system morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033137 A structural abnormality of the pulmonary acinus, alveolar parenchyma, or alveoli. HP:0033132 Renal cortical hyperechogenicity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033132 Increased echogenecity of the kidney cortex. HP:0033131 Renal medullary hyperechogenicity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033131 Increased renal medullary echogenicity Increased echogenecity of the medullary region of the kidney. HP:0033134 Abdominal adhesions biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033134 Intra-abdominal adhesion Fibrous bands (i.e., bands of scar-like tissue) that span two or more intra-abdominal organs and/or the inner abdominal wall (i.e. peritoneal membrane). HP:0033133 Renal cortical hypoechogeneity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033133 Hypoechogenic renal cortex HP:0033139 Elevated circulating uracil concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033139 Concentration of uracil in the blood is above the normal range. HP:0033141 Severe SARS-CoV-2 infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033141 Unusually severe clinical course of SARS-CoV-2 infection, manifested clinically by features such as dyspnea and hypoxia with diffuse bilateral ground-glass opacities of the lungs on computed tomographic scan with progressive respiratory insufficiency necessitating oxygen supplementation or mechanical ventilation. HP:0033140 Blake's pouch cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033140 The presence of an upwardly displaced normal cerebellar vermis, normal appearance of the fastigium, tentorium and size of the cisterna magna. HP:0033147 Abnormal circulating short-chain fatty-acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033147 Any deviation from the normal concentration of a short-chain fatty acid in the blood circulation. HP:0033146 Elevated circulating methylsuccinic acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033146 Increased concentration of methylsuccinic acid in the blood circulation. HP:0033149 Intrahepatic bile duct dilatation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033149 Dilatation of intrahepatic biliary ducts Increased diameter (caliber) of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts). HP:0033148 Increased circulating isovaleric acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033148 Isovalericacidemia|Increased circulating isovalerate Increased concentration of isovaleric acid, a C5, branched-chain saturated fatty acid, in the blood concentration. HP:0033143 Jejunitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033143 Inflammation of the lining of the middle section of the small intestine. HP:0033142 Long nasal bridge biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033142 Increased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. HP:0033145 Increased circulating ceruloplasmin concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033145 Elevated concentration of ceruloplasmin in the blood circulation. HP:0033144 Abnormal circulating ceruloplasmin concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033144 Any deviation of the concentration of ceruloplasmin in the blood from the normal range. HP:0033150 Anorectal abscess biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033150 An abscess located at the junction of the anal canal and the rectum. HP:0033152 Abnormal pharynx physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033152 A functional anomaly of the pharynx. HP:0033151 Abnormal pharynx morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033151 A structural anomaly of the pharynx. HP:0033158 Reduced respiratory ciliary beating frequency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033158 Dminished respiratory ciliary beat frequency An abnormal reduction in the number of beats per unit time of the respiratory cilia. HP:0033157 Elevated circulating 3-methylhistidine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033157 Abnormal increase of the concentration of 3-methylhistidine in the blood circulation. HP:0033159 Reduced urinary inosine level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033159 Decreased level of inosine in urine. Inosine is a purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond. HP:0033154 Elevated circulating deoxypyridinoline concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033154 An increased concentration of lysyl-pyridinoline (deoxypyridinoline) cross-links in the bloood circulation. HP:0033153 Elevated circulating dodecenoylcarnitine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033153 Elevated plasma dodecenoylcarnitine concentration An abnormally increased circulation of dodecenoylcarnitine, C12:1, in the blood circulation. HP:0033156 Elevated urine L-alloisoleucine level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033156 Abnormally increased level of L-alloisoleucine in the urine. HP:0033155 Elevated circulating L-alloisoleucine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033155 Abnormally increased concentration of L-alloisoleucine in the blood circulation. HP:0012860 Testicular fibrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012860 UMLS:C4021061 Fibrotic testicle|Fibrotic testes Formation of excess connective tissue in the testicle. HP:0011530 Retinal hole biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011530 SNOMEDCT_US:95690009|SNOMEDCT_US:40024006|SNOMEDCT_US:302888003|MSH:D012167|SNOMEDCT_US:232003005|UMLS:C0035321 Retinal holes A small break in the retina. HP:0012861 Ovotestis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012861 SNOMEDCT_US:18978002|MSH:D050090|UMLS:C0266361 A gonad that contains both ovarian follicles and testicular tubular elements. HP:0012862 Abnormal germ cell morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012862 UMLS:C4022704 Abnormally shaped germ cell|Abnormal shape of a reproductive cell|Abnormally shaped reproductive cell Any structural anomaly of a reproductive cell. HP:0011531 Vitritis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011531 UMLS:C0235812|SNOMEDCT_US:95802009 Vitreitis|Hyalitis Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity. HP:0011532 Subretinal exudate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011532 SNOMEDCT_US:247156002|UMLS:C0423431 A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium. HP:0012863 Abnormal male germ cell morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012863 UMLS:C4022703 A structural anomaly of a male reproductive cell. HP:0012864 Abnormal sperm morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012864 SNOMEDCT_US:236817003|UMLS:C0403824|MSH:D000072660 Teratozoospermia|Teratospermia|Abnormal shape of sperm A structural anomaly of sperm. HP:0011533 Snowflake vitreoretinal degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011533 UMLS:C1860405|MSH:C536677 Snowflake retinal degeneration The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous. HP:0011534 Abnormal spatial orientation of the cardiac segments biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011534 UMLS:C4023313 Abnormality of the spatial relationship of the cardiac segments to other components of the heart. HP:0012865 Abnormal sperm head morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012865 UMLS:C4022702 Sperm head anomaly A structural abnormality of the sperm head. HP:0010203 Aplasia/hypoplasia of proximal toe phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010203 UMLS:C4021317 Absent/underdeveloped innermost toe bones|Aplasia/Hypoplasia of the proximal phalanges of the toes|Absent/small innermost toe bones Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the toes. HP:0000877 Insulin-resistant diabetes mellitus at puberty biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000877 UMLS:C1837792 Insulin-resistant diabetes mellitus at puberty HP:0010202 Duplication of middle phalanx of toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010202 UMLS:C4021318 Partial/complete duplication of the middle phalanges of the toes|Partial/complete duplication of the middle bones of the toes Partial or complete duplication of a middle phalanx of toe. HP:0000876 Oligomenorrhea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000876 MSH:D009839|UMLS:C0028949|SNOMEDCT_US:52073004 Light or infrequent menstrual periods Infrequent menses (less than 6 per year or more than 35 days between cycles). HP:0010201 Triangular shaped middle phalanges of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010201 UMLS:C4023972 Triangular shaped middle bones of toes HP:0000879 Short sternum biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000879 UMLS:C4020883|SNOMEDCT_US:298724002|UMLS:C0575497 Hypoplastic sternum|Short sternum Decreased inferosuperior length of the sternum. HP:0010200 Symphalangism affecting the middle phalanges of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010200 UMLS:C4023973 Fused middle bones of toes HP:0000878 11 pairs of ribs biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000878 UMLS:C1839731 11 pairs of ribs Presence of only 11 pairs of ribs. HP:0000871 Panhypopituitarism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000871 UMLS:C0242343|MSH:C580003|SNOMEDCT_US:32390006 A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin). HP:0010209 Symphalangism affecting the proximal phalanges of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010209 UMLS:C4023970 Fused innermost bones of toes HP:0000870 Increased circulating prolactin concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000870 UMLS:C0020514|SNOMEDCT_US:237662005|MSH:D006966 Hyperprolactinemia|Prolactin excess|Hyperprolactinaemia 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. HP:0010208 Patchy sclerosis of proximal toe phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010208 UMLS:C4021313 Patchy sclerosis of the proximal phalanges of the toes|Uneven increase in bone density in innermost toe bone 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. HP:0009207 Fragmentation of the epiphysis of the middle phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009207 UMLS:C4024533 Fragmentation of end part of the middle bone of the pinkie finger|Fragmentation of end part of the middle bone of the little finger|Fragmentation of end part of the middle bone of the pinky finger Fragmented appearance of the epiphysis of the middle phalanx of the 5th finger. HP:0010207 Osteolytic defect of the proximal toe phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010207 UMLS:C4021314 Osteolytic defects of the proximal phalanges of the toes Dissolution or degeneration of bone tissue of the proximal toe phalanx. HP:0000873 Diabetes insipidus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000873 UMLS:C0011848|MSH:D003919|SNOMEDCT_US:15771004 A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus). HP:0000872 Hashimoto thyroiditis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000872 SNOMEDCT_US:21983002|MSH:D050031|UMLS:C0677607 Chronic lymphocytic thyroiditis|Hashimoto's thyroiditis A chronic, autoimmune type of thyroiditis associated with hypothyroidism. HP:0009206 Enlarged epiphysis of the middle phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009206 UMLS:C4024534 Enlarged end part of the middle bone of the pinky finger|Enlarged end part of the middle bone of the little finger|Enlarged end part of the middle bone of the pinkie finger Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms. HP:0010206 Curved proximal toe phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010206 UMLS:C4021315 Curved proximal phalanges of the toes|Curved innermost toe bones A deviation from the normal straight shape of a proximal phalanx of one or more toes. HP:0010205 Bullet-shaped proximal toe phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010205 UMLS:C4021316 Bullet-shaped proximal phalanges of toe|Bullet-shaped proximal phalanges of the toes|Bullet-shaped innermost toe bone 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. HP:0009209 Ivory epiphysis of the middle phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009209 UMLS:C4024531 Increased bone density of end part of the middle bone of pinky finger|Increased bone density of end part of the middle bone of pinkie finger|Increased bone density of end part of the middle bone of little finger Sclerosis of the epiphysis of the middle phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. HP:0000875 Episodic hypertension biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000875 UMLS:C1857175 Intermittent high blood pressure HP:0009208 Irregular epiphysis of the middle phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009208 UMLS:C4024532 Irregular end part of the middle bone of the pinkie finger|Irregular end part of the middle bone of the little finger|Irregular end part of the middle bone of the pinky finger Irregular radiographic opacity of the epiphysis of the middle phalanx of the 5th finger. HP:0010204 Broad proximal phalanx of toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010204 UMLS:C4023971 Broad innermost toe bone An increase in width of one ore more proximal toe phalanges. HP:0009203 Absent epiphysis of the middle phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009203 UMLS:C4024537 Absent end part of the middle bone of the little finger|Absent end part of the middle bone of the pinkie finger|Absent end part of the middle bone of the pinky finger Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger. HP:0011535 Abnormal atrial arrangement biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011535 SNOMEDCT_US:445898001|UMLS:C2959688 Abnormal location of heart atrium Abnormality of the spatial relationship of the atria to other components of the heart. HP:0012866 Abnormal sperm neck morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012866 UMLS:C4022701 Sperm neck anomaly A structural abnormality of the sperm neck. HP:0009202 Fragmentation of the epiphysis of the proximal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009202 UMLS:C4024538 Fragmentation of end part of the innermost bone of the pinky finger|Fragmentation of end part of the innermost bone of the pinkie finger|Fragmentation of end part of the innermost bone of the little finger Fragmented appearance of the epiphysis of the proximal phalanx of the 5th finger. HP:0012867 Abnormal sperm mid-piece morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012867 UMLS:C4022700 Sperm mid-piece anomaly A structural abnormality of the sperm mid-piece. HP:0011536 Right atrial isomerism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011536 MSH:D059446|UMLS:C3178806 Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest. HP:0009205 Cone-shaped epiphysis of the middle phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009205 UMLS:C4024535 Cone-shaped end part of the middle bone of the pinkie finger|Cone-shaped end part of the middle bone of the little finger|Cone-shaped end part of the middle bone of the pinky finger A cone-shaped appearance of the epiphysis of the middle phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. HP:0011537 Left atrial isomerism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011537 EPCC:03.01.05|MSH:D059446|UMLS:C3178807|ICD-10:Q20.6 In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest. HP:0012868 Abnormal sperm tail morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012868 UMLS:C4022699 Sperm tail anomaly A structural abnormality of the sperm tail. HP:0009204 Bracket epiphysis of the middle phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009204 UMLS:C4024536 Bracket shaped end part of the middle bone of the pinky finger|Bracket shaped end part of the middle bone of the little finger|Bracket shaped end part of the middle bone of the pinkie finger An abnormality of the middle phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. HP:0011538 Atrial situs inversus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011538 UMLS:C4023312|ICD-10:Q89.3|Fyler:150|Fyler:0150|EPCC:03.01.03 Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side. HP:0012869 Acephalic spermatozoa biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012869 UMLS:C4022698 Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head. HP:0011539 Atrial situs ambiguous biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011539 UMLS:C3164429|SNOMEDCT_US:448681000 Atrial situs ambiguus|Atrial heterotaxy Common atrium without defining morphologic features. HP:0009201 Stippling of the epiphysis of the proximal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009201 UMLS:C4024539 Speckled calcifications in end part of the innnermost bone of the pinky finger|Speckled calcifications in end part of the innnermost bone of the little finger|Speckled calcifications in end part of the innnermost bone of the pinkie finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 5th finger. HP:0009200 Pseudoepiphysis of the proximal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009200 UMLS:C4024540 A secondary ossification center in the proximal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. HP:0012850 Small intestinal dysmotility biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012850 SNOMEDCT_US:253768006|UMLS:C0345200 Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes. HP:0011520 Deuteranomaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011520 UMLS:C0155016|MSH:D003117|SNOMEDCT_US:246674000|SNOMEDCT_US:77479002 Green-weak|Deuteranomoly A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green. HP:0012851 Colonic stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012851 SNOMEDCT_US:19132000|UMLS:C0267466|SNOMEDCT_US:8543007 Narrowing of the colon|Stenosis of the colon A narrowing of a segment of colon whereby bowel continuity is maintained. HP:0011521 Deuteranopia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011521 MSH:D003117|UMLS:C0155016|SNOMEDCT_US:246674000|SNOMEDCT_US:77479002 Green-blind Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green. HP:0012852 Hepatic bridging fibrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012852 UMLS:C4022709 Hepatic fibrosis that reaches from a portal area to another portal area. HP:0012853 Scrotal hypospadias biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012853 UMLS:C2197691|SNOMEDCT_US:702462000 Hypospadias with location of the urethral meatus in the scrotum. HP:0011522 Protanopia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011522 SNOMEDCT_US:51445007|MSH:D003117|UMLS:C0155015 Red-blind Blue and green cones only; no functional red cones. HP:0011523 Iris cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011523 SNOMEDCT_US:37761009|UMLS:C0271119 An iris cyst is composed of a single cell layer of epithelium and is filled with fluid. HP:0012854 Midshaft hypospadias biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012854 UMLS:C4022708 Hypospadias with location of the urethral meatus in the middle of the inferior shaft of the penis. HP:0000888 Horizontal ribs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000888 UMLS:C3806510 Horizontal ribs A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12. HP:0000887 Cupped ribs biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000887 UMLS:C1865039|UMLS:C0426826|SNOMEDCT_US:249704008 Rib cupping|Cupped ribs|Rib flaring Wide, concave rib end. HP:0000889 Abnormal clavicle morphology biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000889 UMLS:C4021792 Abnormal clavicles|Abnormality of the clavicle|Abnormal collarbone Any abnormality of the clavicles (collar bones). HP:0000882 Hypoplastic scapulae biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000882 UMLS:C1846434 Small shoulder blade|Hypoplastic scapula|Small scapulae|Scapular hypoplasia|Small scapula|Short scapulae Underdeveloped scapula. HP:0000884 Prominent sternum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000884 UMLS:C1846433 Sternal protrusion|Prominent sternum HP:0009218 Fragmentation of the epiphysis of the middle phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009218 UMLS:C4024523 Fragmentation of end part of the middle bone of the ring finger Fragmented appearance of the epiphysis of the middle phalanx of the 4th finger. HP:0000883 Thin ribs biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000883 SNOMEDCT_US:249697003|UMLS:C0426818 Slender ribs|Thin ribs Ribs with a reduced diameter. HP:0009217 Enlarged epiphysis of the middle phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009217 UMLS:C4024524 Enlarged end part of the middle bone of the ring finger Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms. HP:0000886 Deformed rib cage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000886 UMLS:C1838659 Deformed rib cage Malformation of the rib cage. HP:0000885 Broad ribs biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000885 UMLS:C1848654 Broad ribs|Wide ribs Increased width of ribs HP:0009219 Irregular epiphysis of the middle phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009219 UMLS:C4024522 Irregular end part of the middle bone of the ring finger Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger. HP:0012855 Scrotal hyperpigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012855 UMLS:C4021062 Hyperpigmentation of the scrotum|Hyperpigmented scrotum|Increased pigmentation in scrotum Increased pigmentation (skin color) of the scrotum. HP:0011524 Iris melanoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011524 NCIT:C3224|UMLS:C0346373|SNOMEDCT_US:255012009 Malignant tumor of melanocytes affecting the iris. HP:0009214 Absent epiphysis of the middle phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009214 UMLS:C4024527 Absent end part of the middle bone of the ring finger Absence of the epiphysis located at the proximal end of the middle phalanx of the 4th finger. HP:0011525 Iris nevus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011525 SNOMEDCT_US:95711003|UMLS:C0346376 Eye freckle A benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated. HP:0012856 Abnormal scrotal rugation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012856 UMLS:C4022707 Anomaly of the folded ridges (wrinkles) of skin of the scrotum. HP:0009213 Triangular epiphysis of the middle phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009213 UMLS:C4021511 Triangular end part of the middle bone of the pinkie finger|Triangular end part of the middle bone of the little finger|Delta-shaped epiphysis of the middle phalanx of the 5th finger|Triangular end part of the middle bone of the pinky finger A triangular appearance of the epiphysis of the middle phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. HP:0012857 Increased scrotal rugation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012857 UMLS:C4022706 Increased number or density of the folded ridges (wrinkles) of skin of the scrotum. HP:0011526 Abnormality of lens shape biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011526 UMLS:C4023314 Abnormality of lens shape An abnormal shape of the lens. HP:0009216 Cone-shaped epiphysis of the middle phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009216 UMLS:C4024525 Cone-shaped end part of the middle bone of the ring finger A cone-shaped appearance of the epiphysis of the middle phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. HP:0009215 Bracket epiphysis of the middle phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009215 UMLS:C4024526 Bracket shaped end part of the middle bone of the ring finger An abnormality of the middle phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. HP:0012858 Decreased scrotal rugation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012858 UMLS:C4022705 Decreased number or density of the folded ridges (wrinkles) of skin of the scrotum. HP:0011527 Lentiglobus biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011527 SNOMEDCT_US:419281007|UMLS:C1622439|UMLS:C4280322 Bulging of eye lens Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging. HP:0012859 Esophageal leukoplakia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012859 SNOMEDCT_US:89057003|UMLS:C0267095 Esophageal epidermoid metaplasia A white patch or plaque occurring on the surface of the esophageal mucous membranes that cannot be rubbed off and cannot be characterized clinically as any other disease. HP:0009210 Pseudoepiphysis of the middle phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009210 UMLS:C4024530 A secondary ossification center in the middle phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. HP:0011528 Solitary congenital hypertrophy of retinal pigment epithelium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011528 UMLS:C4021145 Single isolated CHRPE|Single isolated congenital hypertrophy of retinal pigment epithelium Sharply demarcated hyperpigmentation which is congenital found in around 3-5% of the population and of no functional significance. HP:0011529 Multiple bilateral congenital hypertrophy of retinal pigment epithelium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011529 UMLS:C4021144 Multiple bilateral CHRPE Sharply demarcated hyperpigmentation which is congenital. HP:0009212 Stippling of the epiphysis of the middle phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009212 UMLS:C4024528 Speckled calcifications in end part of the middle bone of the little 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 pinky finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 5th finger. HP:0009211 Small epiphysis of the middle phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009211 UMLS:C4024529 Small end part of the middle bone of the pinkie finger|Small end part of the middle bone of the little finger|Small end part of the middle bone of the pinky finger Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms. HP:0012840 Proximal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012840 UMLS:C0205107|SNOMEDCT_US:40415009 Localized close to the central point of the body. HP:0011510 Drusen biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011510 SNOMEDCT_US:18695008|UMLS:C1260959 Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. HP:0012841 Retinal vascular tortuosity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012841 UMLS:C1860475 Tortuous retinal vessels The presence of an increased number of twists and turns of the retinal blood vessels. HP:0012842 Skin appendage neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012842 UMLS:C0345988|SNOMEDCT_US:126489007|NCIT:C3262|SNOMEDCT_US:55681005 Skin adnexal tumor|Skin adnexal neoplasm A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands. HP:0011511 Macular schisis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011511 UMLS:C4023321 Splitting of the retina in the macular region. HP:0012843 Hair follicle neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012843 UMLS:C0859920|SNOMEDCT_US:44155009|NCIT:C3262 An uncontrolled autonomous cell-proliferation originating in a hair follicle, which is an epidermal adnexal structures responsible for hair growth. HP:0011512 Hyperpigmentation of the fundus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011512 UMLS:C4021146 Hyperpigmented fundus|Hyperpigmented fundi Increased pigmentation of the fundus HP:0000855 Insulin resistance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000855 MSH:D007333|UMLS:C0021655|SNOMEDCT_US:48606007 Body fails to respond to insulin Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. HP:0000854 Thyroid adenoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000854 SNOMEDCT_US:255033000|NCIT:C2855|MSH:D013964|SNOMEDCT_US:255034006|UMLS:C0151468 The presence of a adenoma of the thyroid gland. HP:0000857 Neonatal insulin-dependent diabetes mellitus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000857 UMLS:C3278636 HP:0000859 Hyperaldosteronism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000859 MSH:D006929|SNOMEDCT_US:88213004|UMLS:C0020428 Increased aldosterone production|Mineralocorticoid excess|Increased aldosterone|Elevated plasma aldosterone Overproduction of the mineralocorticoid aldosterone by the adrenal cortex. HP:0000858 Irregular menstruation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000858 SNOMEDCT_US:80182007|UMLS:C0156404 Menstrual irregularities|Menstrual irregularity|Irregular menses Abnormally high variation in the amount of time between periods. HP:0000851 Congenital hypothyroidism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000851 MSH:D003409|SNOMEDCT_US:190268003|SNOMEDCT_US:217710005|UMLS:C0010308 Underactive thyroid gland from birth|Hypothyroidism, congenital A type of hypothyroidism with congenital onset. HP:0000853 Goiter biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000853 UMLS:C0018021|MSH:D006042|SNOMEDCT_US:3716002 Thyroid goiter|Goitre|Enlarged thyroid gland in neck An enlargement of the thyroid gland. HP:0000852 Pseudohypoparathyroidism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000852 SNOMEDCT_US:58976002|UMLS:C0033806|MSH:D011547 A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone. HP:0012844 Trichilemmoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012844 UMLS:C0334263|SNOMEDCT_US:274900003|SNOMEDCT_US:46199002 Tricholemmoma A benign tumour originating from the outer root sheath of the hair follicle. HP:0011513 Retinal cavernous angioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011513 UMLS:C0730304|SNOMEDCT_US:312937006 A benign tumor of the retina that appears as a grouping of blood-filled saccules within the inner retinal layers or on the surface of the optic disc. Retinal cavernous angioma are described as having a 'cluster of grapes' appearance. HP:0012845 Single trichilemmoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012845 UMLS:C4022710 Presence of a unitary trichilemmoma, a benign tumour originating from the outer root sheath of the hair follicle. HP:0011514 Abnormality of binocular vision biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011514 UMLS:C4023320 An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth. HP:0012846 Multiple trichilemmomata biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012846 UMLS:C4021063 Multiple trichilemmomas Presence of multiple trichilemmomata, a benign tumour originating from the outer root sheath of the hair follicle. HP:0011515 Abnormal stereopsis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011515 UMLS:C4023319 Inability to make fine depth discriminations from parallax provided by the two eyes' different positions on the head. HP:0012847 Epilepsia partialis continua biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012847 SNOMEDCT_US:241006|MSH:D017036|UMLS:C0085543 Kojevnikov's epilepsia|Kozhevnikov's epilepsia|Epilepsia partialis continua of Kojevnikov Epilepsia partialis continua (also called Kojevnikov's or Kozhevnikov's epilepsia) is a type of focal motor status epilepticus characterized by repeated stereotyped simple motor manifestations such as jerks, typically of a limb or the face, recurring every few seconds or minutes for extended periods (days or years). HP:0011516 Achromatopsia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011516 SNOMEDCT_US:102450007|UMLS:C0302129|MSH:C536021 Rod monochromatism|Rod monochromacy A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult. HP:0012848 Small intestinal stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012848 UMLS:C0151924 Narrowing of small intestine The narrowing or partial blockage of a portion of the small intestine. HP:0011517 Cone monochromacy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011517 UMLS:C4023318 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. HP:0012849 Small intestinal bleeding biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012849 UMLS:C0520561|SNOMEDCT_US:70375006 Small intestinal bleeding|Small intestinal hemorrhage Bleeding from the small intestine. HP:0011518 Dichromacy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011518 UMLS:C4023317 Individuals affected by dichromacy possess only two types of cones, instead of three. HP:0011519 Anomalous trichromacy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011519 UMLS:C4023316 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. HP:0012830 Position biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012830 UMLS:C4019252 The anatomical localization of the specified phenotypic abnormality. HP:0012831 Laterality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012831 SNOMEDCT_US:272741003|UMLS:C0332304 The localization with respect to the side of the body of the specified phenotypic abnormality. HP:0011500 Polycoria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011500 SNOMEDCT_US:204159004|UMLS:C0344544 Multiple pupils Multiple pupils. HP:0011501 Anterior lenticonus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011501 UMLS:C0344262|SNOMEDCT_US:95480008 A conical projection of the anterior surface of the lens, occurring as a developmental anomaly. HP:0012832 Bilateral biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012832 UMLS:C0238767|SNOMEDCT_US:51440002 Being present on both sides of the body. HP:0000866 Euthyroid multinodular goiter biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000866 UMLS:C1846034 Euthyroid multinodular goitre HP:0000868 Decreased fertility in females biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000868 UMLS:C0151639 Reduced fertility in females|Decreased fertility in females HP:0000867 Secondary hyperparathyroidism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000867 MSH:D006962|UMLS:C0020503|SNOMEDCT_US:91478007 Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia. HP:0000869 Secondary amenorrhea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000869 UMLS:C0232940|SNOMEDCT_US:86030004 Previous menstrual periods stop HP:0000860 Parathyroid hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000860 UMLS:C1389851 Underdeveloped parathyroid glands|Small parathyroid glands Developmental hypoplasia of the parathyroid gland. HP:0000864 Abnormality of the hypothalamus-pituitary axis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000864 UMLS:C4025819 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. HP:0000863 Central diabetes insipidus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000863 SNOMEDCT_US:45369008|MSH:D020790|UMLS:C0687720 Neurohypophyseal diabetes insipidus A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus. HP:0011502 Posterior lenticonus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011502 UMLS:C0344263|SNOMEDCT_US:95482000 A conical projection of the posterior surface of the lens, occurring as a developmental anomaly. HP:0012833 Unilateral biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012833 SNOMEDCT_US:66459002|UMLS:C0205092 Being present on only the left or only the right side of the body. HP:0012834 Right biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012834 SNOMEDCT_US:264180000|UMLS:C0444532 Right-sided Being located on the right side of the body. HP:0011503 Aplasia of the fovea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011503 UMLS:C4023324 Absent fovea Congenital absence of the fovea. HP:0011504 Bull's eye maculopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011504 SNOMEDCT_US:424169002|SNOMEDCT_US:312958000|MSH:C537833|UMLS:C0730330|UMLS:C1828210 Chloroquine retinopathy Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation. HP:0012835 Left biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012835 SNOMEDCT_US:263795004|UMLS:C0443246 Left-sided Being located on the left side of the body. HP:0012836 Spatial pattern biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012836 UMLS:C4022711 The pattern by which a phenotype affects one or more regions of the body. HP:0011505 Cystoid macular edema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011505 UMLS:C0024440|SNOMEDCT_US:193387007|MSH:D008269 Cystoid macular oedema Cystoid macular edema (CME) is any type of macular edema that involves cyst formation. HP:0011506 Choroidal neovascularization biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011506 UMLS:C4023323 Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye. HP:0012837 Generalized biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012837 UMLS:C0205246|SNOMEDCT_US:60132005 Generalised Affecting all regions without specificity of distribution. HP:0012838 Localized biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012838 SNOMEDCT_US:255471002|UMLS:C0392752 Localised|Localized Being confined or restricted to a particular location. HP:0011507 Macular flecks biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011507 UMLS:C4023322 Pale often indistinct lesions of the macula. HP:0012839 Distal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012839 SNOMEDCT_US:46053002|UMLS:C0205108 Outermost Localized away from the central point of the body. HP:0011508 Macular hole biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011508 SNOMEDCT_US:232006002|UMLS:C0024441|MSH:D012167 A macular hole is a small break in the macula, located in the center of the retina. HP:0011509 Macular hyperpigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011509 UMLS:C0745109 Increased amount of pigmentation in the macula lutea. HP:0011571 Parachute mitral valve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011571 SNOMEDCT_US:204362007|UMLS:C0546965 Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles. HP:0009250 Absent epiphysis of the distal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009250 UMLS:C4024497 Absent end part of the outermost bone of the ring finger Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger. HP:0011572 Supramitral ring biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011572 UMLS:C4021142 Supravalvular mitral ring|Membranous supravalvular mitral stenosis A congenital stenotic mitral valvular anomaly with a ring of tissue above the mitral valve. HP:0009252 Cone-shaped epiphysis of the distal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009252 UMLS:C4024495 Cone-shaped end part of the outermost bone of the ring finger A cone-shaped appearance of the epiphysis of the distal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. HP:0011573 Hypoplastic tricuspid valve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011573 UMLS:C4023294|Fyler:1720 Tricuspid valve hypoplasia|Underdeveloped tricuspid valve Congenital defect characterized by underdevelopment of the tricuspid valve. HP:0011574 Imperforate atrioventricular valve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011574 UMLS:C4023293 Unopened atrioventricular valve An atrioventricular valve that has failed to open (atretic). HP:0009251 Bracket epiphysis of the distal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009251 UMLS:C4024496 Bracket shaped end part of the outermost bone of the ring finger An abnormality of the distal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. HP:0011575 Imperforate tricuspid valve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011575 UMLS:C4023292 Unopened tricuspid valve A tricuspid valve that has failed to open. HP:0011576 Intermediate atrioventricular canal defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011576 UMLS:C4023291|Fyler:1121 Intermediate atrioventricular septal defect A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and inlet ventricular defect. There is one valve annulus and two valve orifices. HP:0011577 Partial atrioventricular canal defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011577 SNOMEDCT_US:718216009|UMLS:C4023290 A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices. HP:0011578 Transitional atrioventricular canal defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011578 UMLS:C4023289 A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and an inlet ventricular septal defect. There are two valve annuli and two valve orifices. HP:0010247 Bracket epiphyses of the distal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010247 UMLS:C4023952 Bracket shaped end part of the outermost hand bones 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. HP:0010246 Absent epiphyses of the distal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010246 UMLS:C4023953 Absent end part of the outermost hand bones HP:0010245 Abnormality of the epiphyses of the proximal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010245 UMLS:C4023954 Abnormality of the end part of the innermost hand bones HP:0010244 Abnormality of the epiphyses of the middle phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010244 UMLS:C4023955 Abnormality of the end part of the middle hand bones HP:0010243 Abnormality of the epiphyses of the distal phalanx of finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010243 UMLS:C4023956 Abnormality of the end part of the outermost bone of finger Any anomaly of distal epiphysis of phalanx of finger. HP:0010242 Aplasia of the proximal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010242 UMLS:C4021302 Absent innermost bones|Absent proximal phalanges HP:0010241 Short proximal phalanx of finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010241 UMLS:C1860606 Short proximal phalanx of finger|Short innermost finger bones|Hypoplasia of the proximal phalanges of the hand|Shortening in proximal phalanges|Short proximal phalanges Congenital hypoplasia of one or more proximal phalanx of finger. HP:0011570 Congenital mitral stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011570 SNOMEDCT_US:82458004|UMLS:C0158618 Mitral stenosis with congenital onset. HP:0010249 Enlarged epiphyses of the distal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010249 UMLS:C4023950 Enlarged end part of the outermost hand bones HP:0010248 Cone-shaped epiphyses of the distal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010248 UMLS:C4023951 Cone-shaped end part of the outermost hand bones HP:0011579 Unbalanced atrioventricular canal defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011579 UMLS:C3280940 Unbalanced atrioventricular septal defect Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced). HP:0009247 Abnormality of the epiphysis of the middle phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009247 UMLS:C4024500 Abnormality of the end part of the middle bone of the ring finger HP:0009246 Aplasia of the distal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009246 UMLS:C4024501 Absent outermost little finger bone|Absent outermost pinkie finger bone|Absent outermost pinky finger bone Absence of the distal phalanx of the little (5th) finger. HP:0009249 Abnormality of the epiphysis of the distal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009249 UMLS:C4024498 Abnormality of the end part of the outermost bone of the ring finger HP:0009248 Abnormality of the epiphysis of the proximal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009248 UMLS:C4024499 Abnormality of the end part of the innermost bone of the ring finger HP:0009243 Patchy sclerosis of the distal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009243 UMLS:C4024503 Uneven increase in bone density in the outermost bone of little finger|Uneven increase in bone density in the outermost bone of pinkie finger|Uneven increase in bone density in the outermost bone of pinky finger Patchy increase in bone density of the distal phalanx of the 5th finger. HP:0009242 Osteolytic defects of the distal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009242 UMLS:C4024504 Dissolution or degeneration of bone tissue of the distal phalanx of the 5th finger. HP:0009245 Triangular shaped distal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009245 UMLS:C4024502 Triangular shaped outermost pinky finger bone|Triangular shaped outermost little finger bone|Triangular shaped outermost pinkie finger bone Triangular shaped distal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. HP:0009244 Distal/middle symphalangism of 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009244 UMLS:C1868573|UMLS:C4020781 Fifth finger distal interphalangeal joint symphalangism|Fused end and middle bones of little finger|Fused end and middle bones of pinkie finger|Symphalangism of the terminal and middle phalanges of the 5th finger|Fusion of the terminal and middle phalanges of the 5th finger|Symphalangism of the distal and middle phalanges of the 5th finger|Fused end and middle bones of pinky finger Fusion of the terminal/distal and middle phalanges of the 5th finger. HP:0009261 Absent epiphysis of the proximal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009261 UMLS:C4024487 Absent end part of the innermost bone of the ring finger Absence of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger. HP:0012891 High posterior hairline biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012891 UMLS:C4022692 High hairline at back of head Hair on the neck extends less inferiorly than usual. HP:0011560 Mitral atresia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011560 EPCC:06.02.01|SNOMEDCT_US:23063005|ICD-10:Q23.2|UMLS:C0344760|Fyler:310|Fyler:0310 Mitral valve atresia A congenital defect with failure to open of the mitral valve orifice. HP:0012892 Facial muscle hypertrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012892 UMLS:C4280307|UMLS:C4022691 Large facial muscles|Increased size of facial muscles|Hyperplasia of facial muscles Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve). HP:0011561 Overriding atrioventricular valve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011561 UMLS:C4023298 An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect. HP:0009260 Triangular epiphysis of the distal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009260 UMLS:C4021507 Delta-shaped epiphysis of the distal phalanx of the 4th finger|Triangular end part of the outermost bone of ring finger A triangular appearance of the epiphysis of the distal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. HP:0009263 Cone-shaped epiphysis of the proximal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009263 UMLS:C4024486 Cone-shaped end part of the innermost bone of the ring finger A cone-shaped appearance of the epiphysis of the proximal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. HP:0011562 Straddling atrioventricular valve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011562 UMLS:C4023297 Anomalous insertion of the chordae tendinae or papillary muscles into the contralateral ventricle in the presence of a ventricular septum defect. HP:0012893 Neck muscle hypertrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012893 UMLS:C4022690|UMLS:C4280306 Large neck muscles|Increased size of neck muscles|Hyperplasia of neck muscles|Overgrowth of neck muscles|Hypertrophy of cervical muscles Muscle hypertrophy affecting the muscles of the neck. HP:0009262 Bracket epiphysis of the proximal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009262 UMLS:C4021506 Bracket proximal epiphysis of the ring finger|Bracket shaped end part of the innermost bone of the ring finger An abnormality of the proximal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. HP:0011563 Abnormal ventriculoarterial connection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011563 UMLS:C4023296 Abnormal ventriculoarterial connexion|Abnormal ventriculo-arterial connection An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta. HP:0012894 Paraspinal muscle hypertrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012894 UMLS:C4022689 Muscle hypertrophy affecting the paraspinal muscles. HP:0012895 Scapular muscle hypertrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012895 UMLS:C4022688 Muscle hypertrophy affecting the scapular muscles. HP:0011564 Mitral valve arcade biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011564 UMLS:C4021143 Hammock mitral valve Anomalous mitral valve arcade is diagnosed based on the following features (1) An adequately sized mitral valve orifice; (2) short, thick, and poorly differentiated chordae with direct union of the papillary muscles to the anterior leaflet; (3) narrow or nearly nonexistent spaces between the abnormal chordae; and (4) greater differentiation of the chordae attached to the posterior papillary muscle. HP:0011565 Common atrium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011565 UMLS:C0392482|Fyler:1140|ICD-10:Q21.2|SNOMEDCT_US:253276007 Single atrium Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections. HP:0012896 Abnormal motor evoked potentials biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012896 UMLS:C4022687 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. HP:0012897 Abnormal upper-limb motor evoked potentials biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012897 UMLS:C4021059 Abnormal motor evoked potentials in the upper limb An anomaly identified by motor evoked potentials (MEPs) in the arm. HP:0011566 Cor triatriatum dexter biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011566 SNOMEDCT_US:274947007|Fyler:2854|UMLS:C0344697 Cor triatriatum dextrum A congenital anomaly with partitioning of the right atrium to form a triatrial heart caused by persistence of the right valve of the sinus venosus. Typically, the right atrial partition is due to exaggerated fetal eustachian and thebesian valves, which together form an incomplete septum across the lower part of the atrium. This septum may range from a reticulum to a substantial sheet of tissue. HP:0012898 Abnormal lower-limb motor evoked potentials biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012898 UMLS:C4021058 Abnormal motor evoked potentials in the lower limb An anomaly identified by motor evoked potentials (MEPs) in the leg. HP:0011567 Sinus venosus atrial septal defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011567 SNOMEDCT_US:95268002|MSH:C548009|ICD-10:Q21.1|UMLS:C0344730|Fyler:2010 An interatrial communication caused by a deficiency of the common wall between the superior vena cava (SVC) and the right-sided pulmonary veins. SVASD is commonly associated with anomalous pulmonary venous connection (APVC) of some or all of the pulmonary veins, which produces additional left-to-right shunting. HP:0010236 Small epiphyses of the phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010236 UMLS:C4021305 Small epiphyses of the fingers|Small end part of finger bones Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms. HP:0010235 Pseudoepiphyses of the phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010235 UMLS:C4021306 Pseudoepiphysis of the fingers A secondary ossification center in the phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. HP:0010234 Ivory epiphyses of the phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010234 UMLS:C1857651 Ivory epiphyses of the fingers|Sclerotic ivory phalangeal epiphyses|Increased bone density of end part of the hand bones Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. HP:0010233 Irregular epiphyses of the phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010233 UMLS:C4021307 Irregular epiphyses of the fingers|Irregular end part of finger bones Irregular radiographic opacity of the epiphyses of the phalanges of the fingers. HP:0010232 Fragmentation of the epiphyses of the phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010232 UMLS:C4021308 Fragmentation of end part of finger bones|Fragmentation of the epiphyses of the fingers Fragmented appearance of the epiphyses of the phalanges of the fingers. HP:0010231 Enlarged epiphyses of the phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010231 UMLS:C1865036 Enlarged epiphyses of the fingers|Enlarged end part of finger bones|Enlarged phalangeal epiphyses Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms. HP:0010230 Cone-shaped epiphyses of the phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010230 UMLS:C1859480 Coned epiphyses of hands|Conical phalangeal epiphyses|Phalangeal cone-shaped epiphyses|Coned epiphyses|Cone-shaped epiphyses of the fingers|Cone-shaped epiphyses of hand|Cone-shaped end part of finger bones|Cone-shaped phalangeal epiphyses|Cone-shaped epiphyses of phalanges A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. HP:0012890 Posteriorly placed anus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012890 UMLS:C4022693 Posterior malposition of the anus. HP:0010239 Aplasia of the middle phalanx of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010239 UMLS:C1862096 Missing middle phalanges|Absent middle bones of hand|Absent middle phalanges Absence of one or more middle phalanx of a finger. HP:0010238 Triangular epiphyses of the phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010238 UMLS:C4021303 Triangular end part of finger bones|Triangular epiphyses of the fingers|Delta-shaped epiphyses of the fingers A triangular appearance of the epiphyses of the phalanges of the fingers of the hand. HP:0010237 Epiphyseal stippling of finger phalanges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010237 UMLS:C4021304 Stippling of the epiphyses of the fingers|Speckled calcifications in end part of finger bones|Stippling of the epiphyses of the phalanges of the hand The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the fingers. HP:0011568 Double orifice mitral valve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011568 UMLS:C0344770|SNOMEDCT_US:253402005 The left atrio-ventricular connection consists of two anatomically distinct orifices separated by accessory fibrous tissue. HP:0009258 Small epiphysis of the distal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009258 UMLS:C4024489 Small end part of the outermost bone of the ring finger Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms. HP:0012899 Handgrip myotonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012899 UMLS:C1868623 Grip myotonia Difficulty releasing one's grip associated with prolonged first handgrip relaxation times. HP:0009257 Pseudoepiphysis of the distal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009257 UMLS:C4024490 A secondary ossification center in the distal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. HP:0011569 Cleft anterior mitral valve leaflet biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011569 UMLS:C4023295 Cleft in the anterior mitral valve leaflet not associated with an atrioventricular canal defect. HP:0009259 Stippling of the epiphysis of the distal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009259 UMLS:C4024488 Speckled calcifications in the end part of the outermost bone of the ring finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 4th finger. HP:0009254 Fragmentation of the epiphysis of the distal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009254 UMLS:C4024493 Fragmentation of end part of the outermost bone of the ring finger Fragmented appearance of the epiphysis of the distal phalanx of the 4th finger. HP:0009253 Enlarged epiphysis of the distal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009253 UMLS:C4024494 Enlarged end part of the outermost bone of the ring finger Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms. HP:0009256 Ivory epiphysis of the distal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009256 UMLS:C4024491 Increased bone density of end part of the outermost ring finger bone Sclerosis of the epiphysis of the distal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. HP:0009255 Irregular epiphysis of the distal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009255 UMLS:C4024492 Irregular end part of the outermost bone of the ring finger Irregular radiographic opacity of the epiphysis of the distal phalanx of the 4th finger. HP:0012880 Abnormal labia minora morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012880 UMLS:C4022696 Abnormality of the inner vaginal lips|Abnormality of the labia minora An anomaly of the labia minora, the folds of skin between the outer labia. HP:0011550 Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011550 UMLS:C4023304 HP:0012881 Abnormal labia majora morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012881 UMLS:C4022695 Abnormality of vaginal lips|Abnormality of the labia majora An anomaly of the outer labia. HP:0011551 Right sided atrium to left ventricle and absent left sided atrioventricular connection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011551 UMLS:C4023303 Right sided atrium to left ventricle and absent left sided atrioventricular connexion HP:0009230 Osteolytic defects of the proximal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009230 UMLS:C4024514 Dissolution or degeneration of bone tissue of the proximal phalanx of the 5th finger. HP:0012882 Hyperplastic labia majora biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012882 UMLS:C4021060 Hyperplasia of labia majora|Enlarged labia majora Overgrowth of the outer labia. HP:0012883 Fallopian tube cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012883 SNOMEDCT_US:59401005|UMLS:C0269173 A fluid filled sac located in the Fallopian tube. HP:0011552 Ambiguous atrioventricular connection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011552 SNOMEDCT_US:253278008|UMLS:C0344617 Ambiguous atrioventricular connexion With left or right cardiac isomerism in a biventricular, the atrioventricular connections are perforce ambiguous, in that one of the connections is concordant (e.g., right-sided morphologic right atrium connected to a morphologic right ventricle) and one of the connections is discordant (e.g., left-sided morphologic right atrium connected to a morphologic left ventricle). HP:0012884 Fallopian tube torsion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012884 UMLS:C0269169|SNOMEDCT_US:46946009 Twisted fallopian tube A twisting of the Fallopian tube. Sudden onset with sharp, colicky pelvic pain associated with nausea, vomiting, bowel, and bladder symptoms is the usual presentation. HP:0011553 Discordant atrioventricular connection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011553 UMLS:C0344615|SNOMEDCT_US:253277003 Discordant atrioventricular connexion Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart. HP:0012885 Fallopian tube duplication biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012885 UMLS:C0266375|SNOMEDCT_US:48672005 Accessory fallopian tube The presence of a supernumerary Fallopian tube. HP:0011554 Double inlet atrioventricular connection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011554 ICD-10:Q20.4|UMLS:C4023302|EPCC:01.01.14 Double inlet atrioventricular connexion The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. HP:0011555 Double inlet left ventricle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011555 ICD-10:Q20.4|SNOMEDCT_US:253283000|EPCC:01.04.04|UMLS:C0344622 The condition in which both atria are joined to the left ventricle each by its own atrioventricular valve. Usually there is a hypoplastic right ventricle, which may be on the opposite side of the heart as usual. HP:0012886 Hemorrhagic ovarian cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012886 SNOMEDCT_US:119420007|UMLS:C0473311 An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst. HP:0012887 Ovarian serous cystadenoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012887 UMLS:C0346170|UMLS:C4020715|SNOMEDCT_US:119421006 Serous ovarian cyst A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue. HP:0011556 Double inlet right ventricle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011556 UMLS:C0344621|ICD-10:Q20.4|SNOMEDCT_US:253282005|EPCC:01.04.03 The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic. HP:0010225 Pseudoepiphysis of the 4th metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010225 UMLS:C4023959 The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. HP:0010224 Abnormality of the epiphysis of the 4th metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010224 UMLS:C4023960 Abnormality of the end part of the 4th long bone of hand Any abnormality of the epiphysis of the 4th metacarpal bone. HP:0010223 Pseudoepiphysis of the 3rd metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010223 UMLS:C4023961 The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. HP:0010222 Abnormality of the epiphysis of the 3rd metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010222 UMLS:C4023962 Abnormality of the end part of the 3rd long bone of hand Any abnormality of the epiphysis of the third metacarpal bone. HP:0010221 obsolete Pseudoepiphysis of the 2nd metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010221 HP:0010220 Abnormality of the epiphysis of the 2nd metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010220 UMLS:C4023964 Abnormality of the end part of the 2nd long bone of hand Any abnormality of the epiphysis of the second metacarpal bone. HP:0000891 Cervical ribs biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000891 SNOMEDCT_US:72535009|MSH:D057070|UMLS:C0158779 HP:0000890 Long clavicles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000890 SNOMEDCT_US:249687007|UMLS:C0426808 Long collarbone|Elongated clavicles Increased length of the clavicles. HP:0000893 Bulging of the costochondral junction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000893 UMLS:C1848538 Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage. HP:0000892 Bifid ribs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000892 UMLS:C4721788 Split ribs|Cleft ribs A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray. HP:0009229 Curved proximal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009229 UMLS:C4024515 Curved innermost bone of pinky finger|Curved innermost bone of little finger|Curved innermost bone of pinkie finger Curved appearance of the proximal phalanx of the 5th finger. HP:0000895 Lateral clavicle hook biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000895 UMLS:C0426805|SNOMEDCT_US:249684000 Handlebar clavicle|Hook-shaped collarbone|Hook-shaped clavicle|Hooked clavicle An excessive upward convexity of the lateral clavicle. HP:0010229 Bracket epiphyses of the phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010229 UMLS:C4021309 Bracket shaped end part of finger bones|Bracket epiphyses of the fingers 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. HP:0000894 Short clavicles biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000894 UMLS:C0426799|SNOMEDCT_US:93250003 Underdeveloped clavicles|Hypoplastic clavicles|Clavicular hypoplasia|Short collarbone Reduced length of the clavicles. HP:0009228 Bullet-shaped proximal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009228 UMLS:C4024516 Bullet-shaped innermost little finger bone|Bullet-shaped innermost pinkie finger bone|Bullet-shaped innermost pinky finger bone 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. HP:0010228 Absent epiphyses of the phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010228 UMLS:C4021310 Absent end part of fingers|Absent epiphyses of the fingers Absence of one or more epiphyses of the phalanges of the fingers. HP:0010227 Pseudoepiphysis of the 5th metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010227 UMLS:C4023957 The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present. HP:0000897 Rachitic rosary biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000897 SNOMEDCT_US:15214001|SNOMEDCT_US:249702007 A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary. HP:0000896 Rib exostoses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000896 UMLS:C1835579 Multiple circumscribed bony excrescences located in the ribs. HP:0010226 Abnormality of the epiphysis of the 5th metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010226 UMLS:C4023958 Abnormality of the end part of the long bone of pinky finger|Abnormality of the end part of the long bone of little finger|Abnormality of the end part of the long bone of pinkie finger Any abnormality of the epiphysis of the fifth metacarpal bone. HP:0009225 Aplasia of the proximal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009225 UMLS:C4024517 Absent innermost bone of pinky finger|Absent innermost bone of little finger|Absent innermost bone of pinkie finger Absence of the proximal phalanx of the little (5th) finger. HP:0011557 Double inlet to single ventricle of indeterminate morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011557 UMLS:C4023301 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. HP:0012888 Abnormality of the uterine cervix biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012888 UMLS:C4022694 An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix. HP:0012889 Cervical endometriosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012889 SNOMEDCT_US:61640006|UMLS:C0269107 Abnormal growth of endometrial cells (which are normally limited to the uterus) within the cervix. HP:0009224 Triangular epiphysis of the middle phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009224 UMLS:C4021510 Triangular end part of the middle bone of the ring finger|Delta-shaped 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. HP:0011558 Double inlet to single ventricle with common atrioventricular orifice biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011558 UMLS:C4023300 HP:0011559 Double inlet to single ventricle with two atrioventricular valves biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011559 UMLS:C4023299 HP:0009227 Broad proximal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009227 UMLS:C4021508 Broad innermost pinkie finger bone|Broad innermost little finger bone|Wide proximal phalanx of the 5th finger|Broad innermost pinky finger bone Increased width of the proximal phalanx of the 5th finger. HP:0009226 Short proximal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009226 UMLS:C4021509 Short proximal phalanx of the fifth finger|Hypoplastic/small proximal phalanx of the 5th finger|Short innermost pinkie finger bone|Short innermost pinky finger bone|Short innermost little finger bone Hypoplastic/small proximal phalanx of the fifth finger. HP:0009221 Pseudoepiphysis of the middle phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009221 UMLS:C4024520 A secondary ossification center in the middle phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. HP:0009220 Ivory epiphysis of the middle phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009220 UMLS:C4024521 Increased bone density of end part of the middle ring finger bone Sclerosis of the epiphysis of the middle phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. HP:0009223 Stippling of the epiphysis of the middle phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009223 UMLS:C4024518 Speckled calcifications in end part of the middle bone of the ring finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 4th finger. HP:0009222 Small epiphysis of the middle phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009222 UMLS:C4024519 Small end part of the middle bone of the ring finger Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms. HP:0012870 Vanishing testis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012870 UMLS:C0266427|MSH:C537770|SNOMEDCT_US:53599007 Vanishing testis|Testicular regression syndrome A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction. HP:0009241 Bullet-shaped distal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009241 UMLS:C4024505 Bullet-shaped outermost pinky finger bone|Bullet-shaped outermost pinkie finger bone|Bullet-shaped outermost little finger bone Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 5th finger is affected. HP:0011540 Congenitally corrected transposition of the great arteries biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011540 SNOMEDCT_US:56743000|MSH:C535426|UMLS:C0344616|UMLS:C0232301|EPCC:01.01.03|SNOMEDCT_US:83799000|ICD-10:Q20.5 Ventricular inversion|L-transposition The essence of the lesion is the combination of discordant atrioventricular and ventriculo-arterial connections. Thus, the morphologically right atrium is connected to a morphologically left ventricle across the mitral valve, with the left ventricle then connected to the pulmonary trunk. The morphologically left atrium is connected to the morphologically right ventricle across the tricuspid valve, with the morphologically right ventricle connected to the aorta. HP:0012871 Varicocele biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012871 UMLS:C0042341|SNOMEDCT_US:46871008|SNOMEDCT_US:51070004|MSH:D014646 Vaginal varicocele A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum. HP:0009240 Broad distal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009240 UMLS:C4024506 Wide outermost pinky finger bone|Broad outermost pinky finger bone|Broad outermost pinkie finger bone|Broad outermost little finger bone Increased width of the distal phalanx of the 5th finger. HP:0011541 Criss-cross atrioventricular valves biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011541 UMLS:C4023310 Crossing of the inflow streams of the two ventricles, due to an apparent twisting of the heart about its long axis. HP:0012872 Abnormal vas deferens morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012872 UMLS:C4022697 A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct. HP:0011542 Criss-cross atrioventricular valves with superior-inferior ventricles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011542 UMLS:C4023309 Criss-cross atrioventricular valves with a rare cardiac malformation characterized by the two ventricles lying one above the other instead of side by side. HP:0012873 Absent vas deferens biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012873 SNOMEDCT_US:5286009|SNOMEDCT_US:702610009|SNOMEDCT_US:300506000|UMLS:C0266444 Absent ductus deferens|Congenital absence of the vas deferens|Absent deferent duct Aplasia (congenital absence) of the vas deferens. HP:0012874 Abnormal male reproductive system physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012874 UMLS:C4020716 Abnormal male genital system physiology An abnormal functionality of the male genital system. HP:0011543 Superior-inferior ventricles without criss-cross atrioventricular valves biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011543 UMLS:C4023308|Fyler:0184|Fyler:184 HP:0011544 L-looping of the right ventricle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011544 UMLS:C4023307 HP:0012875 Abnormal ejaculation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012875 SNOMEDCT_US:386674000|UMLS:C2937350 Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract. HP:0011545 Abnormal connection of the cardiac segments biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011545 UMLS:C4023306 Discordant connection of the cardiac segments|Abnormal connexion of the cardiac segments A deviance in the normal connections between two cardiac segements. HP:0012876 Premature ejaculation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012876 MSH:D061686|SNOMEDCT_US:44001008|UMLS:C0033038 Premature ejaculation The emission of semen and seminal fluid during the act of preparation for sexual intercourse, i.e. before there is penetration, or shortly after penetration. HP:0010214 Contracture of the interphalangeal joint of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010214 UMLS:C4023967 The interphalangeal joint of the big toe cannot be straightened actively or passively. HP:0010213 Contracture of the tarsometatarsal joint of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010213 UMLS:C4023968 Chronic loss of joint motion in the tarsometatarsal joint of the hallux due to structural changes in non-bony tissue. The tarsometatarsal joints of the feet are also called Lisfranc's joints. HP:0010212 Flexion contracture of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010212 UMLS:C4021311 Joint contracture of the hallux|Joint contracture of the big toe One or more bent (flexed) joints of the first (big) toe that cannot be straightened actively or passively. HP:0010211 Duplication of proximal phalanx of toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010211 UMLS:C4021312 Duplication of innermost toe bones|Partial/complete duplication of the proximal phalanges of the toes Partial/complete duplication of a proximal phalanx of toe. HP:0010210 Triangular shaped proximal phalanges of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010210 UMLS:C4023969 Triangular shaped innermost toe bones HP:0010219 Structural foot deformity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010219 UMLS:C4023965 A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies. HP:0009239 Aplasia/Hypoplasia of the distal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009239 UMLS:C4024507 Absent/small outermost bone of little finger|Absent/small outermost bone of pinkie finger|Absent/small outermost bone of pinky finger|Absent/underdeveloped outermost bone of pinky finger HP:0010215 Contractures of the metatarsophalangeal joint of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010215 UMLS:C4023966 The joint between the first metatarsal and the proximal phalanx of the first (big) toe cannot be straightened actively or passively. HP:0009236 Rhomboid or triangular shaped 5th finger proximal phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009236 UMLS:C4024509 Rhomboid or triangular shaped innermost bone of pinky finger|Rhomboid or triangular shaped innermost bone of pinkie finger|Rhomboid or triangular shaped innermost bone of little finger Rhomboid or triangular shaped 5th (little) finger proximal phalanx. HP:0012877 Retrograde ejaculation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012877 UMLS:C0403673|SNOMEDCT_US:50112006 The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm. HP:0011546 Abnormal atrioventricular connection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011546 UMLS:C0344612|SNOMEDCT_US:253274005 Abnormal atrioventricular connexion An abnormality of the circulatory connection between atria and ventricles. HP:0012878 Retarded ejaculation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012878 UMLS:C0234047|SNOMEDCT_US:15405008 Delayed ejaculation Difficulty of a male in achieving orgasm. HP:0011547 Absent left sided atrioventricular connection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011547 UMLS:C0344629|SNOMEDCT_US:253290005 Absent left sided atrioventricular connexion A defect where there is no connection between the left atrium and left ventricle. HP:0009238 Aplasia of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009238 UMLS:C4024508 Absent little finger|Absent pinkie finger|Absent pinky finger Absent 5th (little) finger. HP:0012879 Anejaculation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012879 UMLS:C0278106|SNOMEDCT_US:248782001|SNOMEDCT_US:42288005 Ejaculatory incompetence Inability to ejaculate. HP:0011548 Absent right sided atrioventricular connection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011548 UMLS:C0344624|SNOMEDCT_US:253285007 Absent right sided atrioventricular connexion A defect where there is no connection between the right atrium and right ventricle. HP:0009237 Short 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009237 UMLS:C1842878 Hypoplastic phalanges of the little finger|Short phalanges of the little finger|Short little finger|Short pinkie finger|Short fifth finger|Hypoplastic/small 5th finger|Short fifth fingers|Short pinky finger|Fifth finger brachydactyly|Hypoplastic/small little finger|Short 5th finger Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger. HP:0011549 Univentricular heart with absent left sided atrioventricular connection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011549 UMLS:C4023305 Univentricular heart with absent left sided atrioventricular connexion HP:0009232 Symphalangism affecting the proximal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009232 UMLS:C4024512 Fused innermost bone of pinkie finger|Fused innermost bone of little finger|Fused innermost bone of pinky finger Fusion of the proximal phalanx of the 5th finger with another bone. HP:0009231 Patchy sclerosis of the proximal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009231 UMLS:C4024513 Uneven increase in bone density in the innermost bone of little finger|Uneven increase in bone density in the innermost bone of pinkie finger|Uneven increase in bone density in the innermost bone of pinky finger Patchy increase in bone density of the proximal phalanx of the 5th finger. HP:0009234 Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009234 UMLS:C4024510 Fused innermost bone of pinkie finger with 5th long bone of hand|Fused innermost bone of little finger with 5th long bone of hand|Fused innermost bone of pinky finger with 5th long bone of hand Fusion of the proximal phalanx of the 5th finger with the 5th metacarpal. HP:0009233 Triangular shaped proximal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009233 UMLS:C4024511 Triangular shaped innermost little finger bone|Triangular shaped innermost pinkie finger bone|Triangular shaped innermost pinky finger bone Triangular shaped proximal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. HP:0000808 Penoscrotal hypospadias biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000808 SNOMEDCT_US:204889008|UMLS:C0452147 A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum. HP:0000807 Glandular hypospadias biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000807 SNOMEDCT_US:429631000124104|UMLS:C0452168|SNOMEDCT_US:204891000 HP:0000809 Urinary tract atresia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000809 UMLS:C1389003 Congenital absence of the normal opening of a structure of the urinary tract. HP:0000800 Cystic renal dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000800 UMLS:C1834931 Bilateral cystic dysplasia|Renal cystic dysplasia|Renal dysplasia, cystic HP:0000802 Impotence biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000802 MSH:D007172|SNOMEDCT_US:397803000|UMLS:C0242350 Difficulty getting a full erection|Difficulty getting an erection Inability to develop or maintain an erection of the penis. HP:0000804 Xanthine nephrolithiasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000804 UMLS:C1848431 Xanthine stones|Urinary xanthine stones The presence of xanthine-containing calculi (stones) in the kidneys. HP:0000803 Renal cortical cysts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000803 UMLS:C1969144 Cortical cysts Cysts of the cortex of the kidney. HP:0000805 Enuresis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000805 SNOMEDCT_US:8009008|MSH:D004775|UMLS:C0014394 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. HP:0012820 Bilateral vocal cord paralysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012820 UMLS:C2146481 A loss of the ability to move the vocal fold on both sides. HP:0012821 Unilateral vocal cord paresis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012821 UMLS:C0751577|MSH:D014826 Decreased strength of the vocal fold on one side. HP:0000833 obsolete Glucose intolerance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000833 HP:0000832 Primary hypothyroidism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000832 SNOMEDCT_US:111566002|UMLS:C0700502 A type of hypothyroidism that results from a defect in the thyroid gland. HP:0000835 Adrenal hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000835 MSH:C538429|UMLS:C0342491|UMLS:C1846223|SNOMEDCT_US:237774001 Hypoplastic adrenal glands|Underdeveloped adrenal glands|Small adrenal glands|Adrenal gland hypoplasia Developmental hypoplasia of the adrenal glands. HP:0000834 Abnormality of the adrenal glands biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000834 SNOMEDCT_US:30171000|UMLS:C0001621|UMLS:C4021794|MSH:D000307 Adrenal abnormalities|Adrenal gland disease Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys. HP:0000837 Increased circulating gonadotropin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000837 UMLS:C1862265 Elevated serum gonadotropins|Elevated gonadotropins|Increased circulating gonadotropin level|Gonadotropin excess Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland. HP:0000836 Hyperthyroidism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000836 MSH:D006980|SNOMEDCT_US:34486009|UMLS:C0020550 Overactive thyroid An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3). HP:0000839 Pituitary dwarfism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000839 UMLS:C0013338|SNOMEDCT_US:367460001|MSH:D004393|SNOMEDCT_US:7530009 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. HP:0000831 Insulin-resistant diabetes mellitus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000831 UMLS:C0854110 Insulin-resistant diabetes|Insulin resistant diabetes|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. HP:0000830 Anterior hypopituitarism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000830 UMLS:C4025821 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. HP:0012822 Bilateral vocal cord paresis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012822 MSH:D014826|UMLS:C0751574 Decreased strength of the vocal fold on both sides. HP:0012823 Clinical modifier biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012823 UMLS:C4021064 Phenotypic 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. HP:0012824 Severity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012824 UMLS:C0522510|SNOMEDCT_US:103370009 Intensity The intensity or degree of a manifestation. HP:0012825 Mild biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012825 UMLS:C1513302|SNOMEDCT_US:446411000124101 Mild Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean. HP:0012826 Moderate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012826 SNOMEDCT_US:446421000124109|UMLS:C0205081|SNOMEDCT_US:6736007 Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean. HP:0012827 Borderline biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012827 UMLS:C0205189 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. HP:0012828 Severe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012828 SNOMEDCT_US:24484000|UMLS:C0205082 Severe Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. HP:0012829 Profound biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012829 UMLS:C0439808|SNOMEDCT_US:795002 Profound Having an extremely high degree of severity. For quantitative traits, a deviation of more than five standard deviations from the appropriate population mean. HP:0012810 Wide nasal base biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012810 UMLS:C1849667 Wide nasal base|Increased width of nasal base|Broad base of nose|Wide base of nose|Increased width of base of nose|Broad nasal base Increased distance between the attachments of the alae nasi to the face. HP:0000843 Hyperparathyroidism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000843 SNOMEDCT_US:66999008|UMLS:C0020502|MSH:D006961 Elevated blood parathyroid hormone level Excessive production of parathyroid hormone (PTH) by the parathyroid glands. HP:0000846 Adrenal insufficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000846 SNOMEDCT_US:111563005|UMLS:C0001623|SNOMEDCT_US:386584007|SNOMEDCT_US:237785004|MSH:D000309 Hypoadrenalism Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands. HP:0000845 Growth hormone excess biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000845 MSH:C531600|SNOMEDCT_US:74107003|MSH:D000172|UMLS:C0001206|UMLS:C0235986 Acral hypertrophy|Somatotropin excess|Acromegalic growth|Acromegaly|Growth hormone excess Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness. HP:0000848 Increased circulating renin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000848 UMLS:C0240783 Increased plasma renin|Hyperreninemia|Elevated plasma renin|Elevated blood renin level|Increased serum renin An increased level of renin in the blood. HP:0000847 Abnormality of renin-angiotensin system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000847 UMLS:C4021793 Abnormality of the renin-aldosterone axis An abnormality of the renin-angiotensin system. HP:0000849 Adrenocortical abnormality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000849 UMLS:C4025820 HP:0012819 Myocarditis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012819 SNOMEDCT_US:50920009|UMLS:C0027059|MSH:D009205 Inflammation of heart muscle Inflammation of the myocardium. HP:0000840 Adrenogenital syndrome biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000840 SNOMEDCT_US:267395000|SNOMEDCT_US:271077003|UMLS:C0302280|MSH:D047808|SNOMEDCT_US:237751000 Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects. HP:0000842 Hyperinsulinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000842 MSH:D006946|UMLS:C0020459|SNOMEDCT_US:83469008 Elevated insulin level An increased concentration of insulin in the blood. HP:0000841 Hyperactive renin-angiotensin system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000841 UMLS:C1846345|UMLS:C3150267 Increased plasma renin activity An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms. HP:0012811 Wide nasal ridge biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012811 UMLS:C4020718 Nasal ridge, wide|Broad nasal ridge|Increased width of nasal ridge|Broad nasal dorsum|Wide nasal dorsum|Wide nasal ridge|Broad dorsum of nose|Increased width of nasal dorsum|Increased width of dorsum of nose|Wide dorsum of nose Increased width of the nasal ridge. HP:0012812 Fullness of paranasal tissue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012812 UMLS:C4021065|UMLS:C4280309|UMLS:C4280308 Hypertrophy of paranasal tissue|Laterally built up nose|Fullness of tissue around the nose|Thick tissue around the nose|Hyperplasia of paranasal tissue|Paranasal fullness|Thick paranasal tissue Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues. HP:0012813 Unilateral breast hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012813 UMLS:C1844722 One underdeveloped breast Underdevelopment of the breast on one side only. HP:0012814 Bilateral breast hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012814 UMLS:C4022716 Two underdeveloped breasts Underdevelopment of the breast on both sides. HP:0012815 Hypoplastic female external genitalia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012815 UMLS:C4022715 Underdeveloped 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). HP:0012816 Right ventricular noncompaction cardiomyopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012816 UMLS:C4022714 A predominantly right ventricular variant of isolated noncompaction cardiomyopathy. HP:0012817 Noncompaction cardiomyopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012817 UMLS:C1839832 Noncompaction of the ventricular myocardium|Spongiform cardiomyopathy A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber. HP:0012818 Biventricular noncompaction cardiomyopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012818 UMLS:C4022713 Noncompaction cardiomyopathy that affects both ventricles. HP:0000819 Diabetes mellitus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000819 UMLS:C0011849|SNOMEDCT_US:73211009|MSH:D003920 A group of abnormalities characterized by hyperglycemia and glucose intolerance. HP:0000818 Abnormality of the endocrine system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000818 SNOMEDCT_US:362969004|MSH:D004700|UMLS:C0014130|UMLS:C4025823 Endocrine system disease An abnormality of the endocrine system. HP:0000811 Abnormal external genitalia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000811 UMLS:C4025825 Abnormal external genitalia HP:0000813 Bicornuate uterus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000813 SNOMEDCT_US:31401003|UMLS:C0266387 Heart shaped uterus|Heart-shaped uterus|Uterus bicornis The presence of a bicornuate uterus. HP:0000812 Abnormal internal genitalia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000812 UMLS:C4025824 Abnormal internal genitalia An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male). HP:0000815 Hypergonadotropic hypogonadism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000815 UMLS:C0948896|SNOMEDCT_US:370999003|MSH:D007006 Hypergonadotrophic hypogonadism|Primary hypogonadism Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay. HP:0000817 Poor eye contact biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000817 UMLS:C1445953|SNOMEDCT_US:412786000 Poor eye contact Difficulty in looking at another person in the eye. HP:0000816 Abnormality of Krebs cycle metabolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000816 UMLS:C4021795 Abnormality of citric acid cycle|Abnormality of the tricarboxylic cycle An abnormality of the tricarboxylic acid cycle. HP:0012808 Abnormal nasal base biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012808 UMLS:C4022718 Anomaly of base of nose|Deformity of nasal base|Malformation of nasal base|Abnormal nasal base|Deformity of base of nose|Malformation of base of nose|Abnormality of base of nose|Anomaly of nasal base An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face. HP:0012809 Narrow nasal base biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012809 UMLS:C4022717 Decreased width of nasal base|Narrow base of nose|Decreased width of base of nose|Narrow nasal base|Thin nasal base|Thin base of nose Decreased distance between the attachments of the alae nasi to the face. HP:0012800 Accessory cranial suture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012800 UMLS:C4022927|UMLS:C4021067 Extra fontanelle|Supernumary cranial suture|Supernumary fontanelle|Accessory fontanelle|Extra cranial suture A cranial suture that is in addition to canonical membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant. HP:0012801 Narrow jaw biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012801 UMLS:C4021066|UMLS:C4280310 Narrow lower face|Narrow lower jaw|Narrow jaw|Narrow mandible|Thin lower face|Thin lower jaw Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective). HP:0012802 Broad jaw biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012802 UMLS:C3281059 Wide jaw|Broad mandible|Wide mandible|Broad lower face|Broad jaw Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective). HP:0012803 Anisometropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012803 MSH:D015858|UMLS:C0003081|SNOMEDCT_US:3289004 Inequality of refractive power of the two eyes. HP:0012804 Corneal ulceration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012804 SNOMEDCT_US:91514001|MSH:D003320|UMLS:C0010043 Corneal ulcer|Corneal ulcerations Disruption of the epithelial layer of the cornea with involvement of the underlying stroma. HP:0012805 Iris transillumination defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012805 UMLS:C1096099 Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris. HP:0012806 Proboscis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012806 UMLS:C0687082 A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline. HP:0012807 High insertion of columella biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0012807 UMLS:C4020909 Ala lower than columella|Columella, high insertion Insertion of the posterior columella superior to the nasal base. HP:0000829 Hypoparathyroidism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000829 UMLS:C0020626|SNOMEDCT_US:36976004|MSH:D007011 Low parathyroid hormone|Decreased parathyroid hormone secretion A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia. HP:0000822 Hypertension biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000822 SNOMEDCT_US:24184005|UMLS:C0020538|MSH:D006973|UMLS:C0497247|SNOMEDCT_US:38341003 Arterial hypertension|High blood pressure|Systemic hypertension The presence of chronic increased pressure in the systemic arterial system. HP:0000821 Hypothyroidism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000821 SNOMEDCT_US:40930008|UMLS:C0020676|MSH:D007037 Underactive thyroid|Low T4 Deficiency of thyroid hormone. HP:0000824 Decreased response to growth hormone stimuation test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000824 UMLS:C3714796|SNOMEDCT_US:2109003 Somatotropin deficiency|Growth hormone deficiency 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. HP:0000823 Delayed puberty biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000823 MSH:D011628|UMLS:C0034012|SNOMEDCT_US:400003000|SNOMEDCT_US:123526007 Delayed pubertal growth|Pubertal delay|Delayed pubertal development|Delayed puberty Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. HP:0000826 Precocious puberty biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000826 SNOMEDCT_US:400179000|SNOMEDCT_US:123527003|UMLS:C0034013|MSH:D011629 Early puberty|Early onset of 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. HP:0000825 Hyperinsulinemic hypoglycemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000825 UMLS:C1864903 Hyperinsulinaemic hypoglycaemia|Hyperinsulinemia hypoglycemia An increased concentration of insulin combined with a decreased concentration of glucose in the blood. HP:0000828 Abnormality of the parathyroid gland biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000828 SNOMEDCT_US:73132005|UMLS:C0030517|MSH:D010279|UMLS:C4025822 Parathyroid disease An abnormality of the parathyroid gland. HP:0000820 Abnormality of the thyroid gland biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000820 MSH:D013959|UMLS:C0040128|SNOMEDCT_US:14304000 Thyroid abnormality|Abnormality of the thyroid gland|Thyroid disease An abnormality of the thyroid gland. HP:0011494 Generalized opacification of the cornea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011494 UMLS:C4021147 Generalised opacification of the cornea Generalized reduced transparency of the stroma of the cornea. HP:0010162 Absent epiphyses of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010162 UMLS:C4023997 Absent end part of the toe bones Absence of the epiphyses of the phalanges of the toes. HP:0009173 Curved middle phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009173 UMLS:C4024557 Curved middle bone of pinky finger|Curved middle bone of pinkie finger|Curved middle bone of little finger Curved appearance of the middle phalanx of the 5th finger. HP:0010161 Abnormality of the phalanges of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010161 UMLS:C4023998 Abnormality of the long bones of the toes HP:0011495 Abnormal corneal epithelium morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011495 UMLS:C4023326 Abnormality of corneal epithelium Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea. HP:0009172 Abnormal 4th finger phalanx morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009172 UMLS:C4021516 Abnormality of the phalanges of the ring finger|Abnormal bones of 4th finger Abnormality of the phalanges of the 4th (ring) finger. HP:0011496 Corneal neovascularization biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011496 UMLS:C0085109|MSH:D016510|SNOMEDCT_US:19161004 New blood vessel formation in cornea|Corneal neovascularisation|Corneal vascularization|Limbal neovascularization Ingrowth of new blood vessels into the cornea. HP:0010160 Abnormality of the epiphyses of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010160 UMLS:C4023999 Abnormality of the end part of the toe bones HP:0009175 Patchy sclerosis of the middle phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009175 UMLS:C4024555 Uneven increase in bone density in the middle bone of the pinky finger|Uneven increase in bone density in the middle bone of the little finger|Uneven increase in bone density in the middle bone of the pinkie finger Patchy increase in bone density of the middle phalanx of the 5th finger. HP:0011497 Iris neovascularization biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011497 UMLS:C0154916|SNOMEDCT_US:51995000 Neovascularization of the iris|New blood vessel formation in iris New growth of vessels on the surface of the iris. HP:0009174 Abnormality of the epiphyses of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009174 UMLS:C4024556 Abnormality of the end part of the ring finger Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger. HP:0011498 obsolete Partial aniridia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011498 HP:0011499 Mydriasis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011499 SNOMEDCT_US:37125009|MSH:D015878|UMLS:C0026961 Dilated pupil Abnormal dilatation of the iris. HP:0009171 Triangular epiphyses of the metacarpals biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009171 UMLS:C4024558 Triangular end part of the long bone of hand A triangular appearance of the epiphyses of the metacarpals. Thess epiphyses are located at the distal end of the metacarpals. HP:0009170 Osteolytic defects of the middle phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009170 UMLS:C4024559 Dissolution or degeneration of bone tissue of the middle phalanx of the 5th finger. HP:0010169 Pseudoepiphyses of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010169 UMLS:C4023990 HP:0010168 Ivory epiphyses of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010168 UMLS:C4023991 Increased bone density of end part of the toes HP:0010167 Irregular epiphyses of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010167 UMLS:C4023992 Irregular end part of the toe bones HP:0010166 Fragmentation of the epiphyses of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010166 UMLS:C4023993 Fragmentation of the end part of the toe bones HP:0011490 Abnormal Descemet membrane morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011490 UMLS:C4023330 Abnormality of Descemet's membrane Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium. HP:0011491 Reduced number of corneal endothelial cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011491 UMLS:C4023329 A reduction in the number of corneal endothelial cells. HP:0010165 Enlarged epiphyses of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010165 UMLS:C4023994 Enlarged end part of the toe bones HP:0011492 Abnormality of corneal stroma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011492 UMLS:C4023328 An abnormality of the stroma of cornea, also known as the substantia propria of cornea. HP:0010164 Cone-shaped epiphyses of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010164 UMLS:C4023995 Cone-shaped end part of the toe bones HP:0010163 Bracket epiphyses of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010163 UMLS:C4023996 Bracket shaped end part of the toe bones HP:0011493 Central opacification of the cornea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011493 UMLS:C4023327 Reduced transparency of the central portion of the corneal stroma. HP:0009169 Broad middle phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009169 UMLS:C4021517 Broad middle bone of little finger|Broad middle bone of pinkie finger|Broad middle bone of pinky finger|Wide middle phalanx of the 5th finger Increased width of the middle phalanx of the 5th finger. HP:0009166 Fragmentation of the epiphysis of the distal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009166 UMLS:C4024562 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 Fragmented appearance of the epiphysis of the distal phalanx of the 5th finger. HP:0009165 Stippling of the epiphysis of the distal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009165 UMLS:C4024563 Speckled calcifications in end part of the outermost bone of pinky finger|Speckled calcifications in end part of the outermost bone of little finger|Speckled calcifications in end part of the outermost bone of pinkie finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 5th finger. HP:0009168 Bullet-shaped middle phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009168 UMLS:C4024560 Bullet-shaped middle pinkie finger bone|Bullet-shaped middle little finger bone|Bullet-shaped middle pinky finger bone Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 5th finger is affected. HP:0009167 Irregular epiphysis of the distal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009167 UMLS:C4024561 Irregular end part of the outermost bone of little finger|Irregular end part of the outermost bone of pinkie finger|Irregular end part of the outermost bone of pinky finger Irregular radiographic opacity of the epiphysis of the distal phalanx of the 5th finger. HP:0010151 Cone-shaped epiphysis of the 1st metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010151 UMLS:C4024008 Cone-shaped end part of the 1st long bone of foot A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot. HP:0011483 Anterior synechiae of the anterior chamber biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011483 SNOMEDCT_US:70992005|UMLS:C0152252 Anterior synechiae|Cornea-iris adhesion|Iridocorneal synechia Adhesions between the iris and the cornea. HP:0009184 Contracture of the distal interphalangeal joint of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009184 UMLS:C4024551 Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue. HP:0011484 Posterior synechiae of the anterior chamber biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011484 SNOMEDCT_US:111512005|UMLS:C0152253 Iridolenticular adhesions|Posterior synechiae Adhesions between the iris and the lens. HP:0009183 Joint contracture of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009183 UMLS:C1865702 Fifth finger camptodactyly|5th finger camptodactyly Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected. HP:0010150 Bracket epiphysis of the 1st metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010150 UMLS:C4024009 Bracket shaped end part of 1st long bone of foot The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form. HP:0011485 Corneolenticular adhesion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011485 UMLS:C4023334 Developmental abnormality in which the lens and cornea are not separated. HP:0009186 Contracture of the metacarpophalangeal joint of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009186 UMLS:C4024550 Chronic loss of joint motion of the metacarpophalangeal joint of the 5th finger due to structural changes in non-bony tissue. HP:0011486 Abnormality of corneal thickness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011486 UMLS:C4023333 An abnormal anteroposterior thickness of the cornea. HP:0009185 Contracture of the proximal interphalangeal joint of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009185 UMLS:C3554612 Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. HP:0011487 Increased corneal thickness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011487 UMLS:C3810451 A increased anteroposterior thickness of the cornea. HP:0009180 Ulnar deviation of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009180 UMLS:C4024553 Displacement of the 5th finger towards the ulnar side. HP:0011488 Abnormal corneal endothelium morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011488 UMLS:C4023332 Abnormality of corneal endothelium Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea. HP:0009182 Triangular shaped middle phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009182 UMLS:C4024552 Triangular shaped middle pinky finger bone|Triangular shaped middle pinkie finger bone|Triangular shaped middle little finger bone Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. HP:0011489 Abnormal migration of corneal endothelium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011489 UMLS:C4023331 Abnormal migration of corneal endothelium. HP:0010159 Triangular epiphysis of the 1st metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010159 UMLS:C4024000 Triangular end part of the 1st long bone of foot HP:0010158 Stippling of the epiphysis of the 1st metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010158 UMLS:C4024001 Speckled calcifications in the end part of the 1st long bone of foot HP:0010157 Small epiphysis of the 1st metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010157 UMLS:C4024002 Small end part of the 1st long bone of foot HP:0010156 Pseudoepiphysis of the 1st metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010156 UMLS:C4024003 HP:0010155 Ivory epiphysis of the 1st metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010155 UMLS:C4024004 Increased bone density of end part of the 1st long bone of foot The epiphysis of the 1st metatarsal are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. HP:0011480 Unilateral microphthalmos biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011480 UMLS:C3640024|UMLS:C4280323 Abnormally small eyeball on one side|Unilateral nanophthalmos A developmental anomaly characterized by abnormal smallness of one eye. HP:0010154 Irregular epiphysis of the 1st metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010154 UMLS:C4024005 Irregular end part of the 1st long bone of foot HP:0011481 Abnormal lacrimal duct morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011481 UMLS:C1858567 Abnormality of the lacrimal duct|Abnormality of the lacrimal canaliculus An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac. HP:0010153 Fragmentation of the epiphysis of the 1st metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010153 UMLS:C4024006 Fragmentation of the end part of the 1st long bone of foot HP:0011482 Abnormal lacrimal gland morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011482 UMLS:C4023336 Abnormality of the lacrimal gland Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye. HP:0010152 Enlarged epiphysis of the 1st metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010152 UMLS:C4024007 Enlarged end part of the 1st long bone of foot HP:0009177 Proximal/middle symphalangism of 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009177 UMLS:C1836212 Proximal 5th finger symphalangism|Fused innermost and middle bones of pinky finger|Proximal fifth finger symphalangism|Fused innermost and middle bones of little finger|Symphalangism of the proximal and middle phalanges of the 5th finger|Fused innermost and middle bones of pinkie finger Fusion of the proximal and middle phalanges of the 5th finger. HP:0009179 Deviation of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009179 UMLS:C4021515 Displaced pinky finger|Displaced little finger|Displaced pinkie finger|Laterally displaced fifth finger Displacement of the 5th finger from its normal position. HP:0009178 Symphalangism of middle phalanx of 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009178 UMLS:C4024554 Fused middle bones of pinky finger|Fused middle bones of little finger|Fused middle bones of pinkie finger Fusion of the middle phalanx of the 5th finger with another bone. HP:0011472 Abnormality of small intestinal villus morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011472 UMLS:C4023341 Abnormal shape of small intestinal villus HP:0010140 Cone-shaped epiphysis of the distal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010140 UMLS:C4024019 Cone-shaped end part of the outermost bone of the big toe HP:0009150 Abnormality of the proximal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009150 UMLS:C4024570 Abnormality of the innermost bone little finger|Abnormality of the innermost bone pinkie finger|Abnormality of the innermost bone pinky finger Abnormality of the proximal phalanx of the little (5th) finger. HP:0011473 Villous atrophy biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011473 UMLS:C2677378|UMLS:C1833058|UMLS:C4020747|SNOMEDCT_US:75581001|UMLS:C1859541|UMLS:C0267456|UMLS:C0554101|SNOMEDCT_US:275403002 Variable degree of villous atrophy|Atrophy of small intestinal villi|Duodenal villous atrophy|Villous degeneration|Biopsy shows villous atrophy|Small intestine biopsy shows villous atrophy The enteric villi are atrophic or absent. HP:0011474 Childhood onset sensorineural hearing impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011474 UMLS:C4023340 Sensorineural hearing impairment with childhood onset. HP:0009153 Abnormality of the epiphysis of the proximal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009153 UMLS:C4024568 Abnormality of end part of the innermost bone of pinky finger|Abnormality of end part of the innermost bone of little finger|Abnormality of end part of the innermost bone of pinkie finger Abnormality of the epiphysis of the proximal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx. HP:0011475 Persistent stapedial artery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011475 UMLS:C4023339 Persistence of the stapedial artery, which normally regresses during embryonic life. HP:0009152 Abnormality of the epiphyses of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009152 UMLS:C4024569 Abnormality of end part of little finger bone|Abnormality of end part of pinkie finger bone|Abnormality of end part of pinky finger bone Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger. HP:0011476 Profound sensorineural hearing impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011476 UMLS:C4023338 Complete loss of hearing related to a sensorineural defect. HP:0011477 Upbeat nystagmus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011477 SNOMEDCT_US:307677002|UMLS:C0585545 In primary position, the eyes drift slowly downward and then spontaneously beat upward. Upward gaze accentuates the nystagmus. The associated oscillopsias are often very irritating, but the symptoms are usually transient. HP:0011478 True anophthalmia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011478 UMLS:C2675590 Completely missing eyeball|Total anophthalmia|Complete anophthalmia Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination. HP:0011479 Abnormal lacrimal punctum morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011479 UMLS:C4023337 Abnormality of the lacrimal punctum 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. HP:0010148 Triangular epiphysis of the distal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010148 UMLS:C4024011 Triangular end part of the outermost bone of the big toe HP:0010147 Stippling of the epiphysis of the distal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010147 UMLS:C4024012 Speckled calcifications in the end part of the outermost bone of the big toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the hallux. HP:0010146 Small epiphysis of the distal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010146 UMLS:C4024013 Small end part of the outermost bone of the big toe HP:0010145 Pseudoepiphysis of the distal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010145 UMLS:C4024014 HP:0010144 Ivory epiphysis of the distal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010144 UMLS:C4024015 Increased bone density of end part of the outermost bone of the big toe HP:0010143 Irregular epiphysis of the distal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010143 UMLS:C4024016 Irregular end part of the outermost bone of the big toe HP:0010142 Fragmentation of the epiphysis of the distal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010142 UMLS:C4024017 Fragmentation of the end part of the outermost bone of the big toe HP:0011470 Nasogastric tube feeding in infancy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011470 UMLS:C4023343 Feeding problem necessitating nasogastric tube feeding. HP:0011471 Gastrostomy tube feeding in infancy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011471 UMLS:C4020748|UMLS:C4023342 PEG-fed in infancy Feeding problem necessitating gastrostomy tube feeding. HP:0010141 Enlarged epiphysis of the distal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010141 UMLS:C4024018 Enlarged end part of the outermost bone of the big toe HP:0010149 Absent epiphysis of the 1st metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010149 UMLS:C4024010 Absent end part of the 1st long bone of foot Failure to form (agenesis) of the epiphysis of the 1st metatarsal. HP:0009148 Small epiphysis of the distal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009148 UMLS:C4024571 Small end part of the outermost bone of pinky finger|Small end part of the outermost bone of pinkie finger|Small end part of the outermost bone of little finger Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms. HP:0009147 Enlarged epiphysis of the distal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009147 UMLS:C4024572 Enlarged end part of the outermost bone of pinky finger|Enlarged end part of the outermost bone of little finger|Enlarged end part of the outermost bone of pinkie finger Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms. HP:0009149 Triangular epiphysis of the distal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009149 UMLS:C4021519 Triangular end part of the outermost bone of pinky finger|Delta-shaped epiphysis of the distal phalanx of the 5th finger|Triangular end part of the outermost bone of pinkie finger|Triangular end part of the outermost bone of little finger A triangular appearance of the epiphysis of the distal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. HP:0009144 Supernumerary bones of the axial skeleton biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009144 UMLS:C4024573 HP:0009145 Abnormal cerebral artery morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009145 UMLS:C4021520 Abnormality of cerebral artery|Abnormality of the cerebral arteries Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery. HP:0011461 Fetal onset biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011461 UMLS:C4023347 Foetal onset Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). HP:0009162 Absent middle phalanx of 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009162 UMLS:C3277750 Absent middle bone of pinky finger|Absent middle bone of pinkie finger|Absent middle bone of little finger|Aplasia of the middle phalanx of the 5th finger Absence of the middle phalanx of the little (5th) finger. HP:0012792 Absent ossification of thoracic vertebral bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012792 UMLS:C4022721 A lack of bone mineralization of one or more body of thoracic vertebra. HP:0011462 Young adult onset biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011462 UMLS:C3554568 Onset of disease at the age of between 16 and 40 years. HP:0009161 Aplasia/Hypoplasia of the middle phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009161 UMLS:C1834034 Absent/hypoplastic middle phalanx of 5th finger|Absent/small middle bone of pinky finger|Absent/underdeveloped middle bone of pinkie finger|Absent/underdeveloped middle bone of little finger|Absent/underdeveloped middle bone of pinky finger Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger. HP:0012793 Kinked brainstem biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012793 UMLS:C4021068 Kinked brain stem A kinked appearance of the brainstem, i.e., an exaggerated flexure. HP:0012794 Periventricular white matter hypodensities biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012794 UMLS:C4022720 Periventricular cerebral white matter hypodensities Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles. HP:0009164 Abnormal calcification of the carpal bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009164 UMLS:C1968592 Abnormal calcification of the wrist bones|Carpal calcifications HP:0011463 Childhood onset biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011463 UMLS:C1837352 Symptoms begin in childhood Onset of disease at the age of between 1 and 5 years. HP:0012795 Abnormality of the optic disc biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012795 UMLS:C3808249 A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination. HP:0011464 Aganglionosis of the small intestine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011464 UMLS:C4023346 A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the small intestine. HP:0009163 obsolete Abnormal form of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009163 HP:0011465 Duodenal aganglionosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011465 UMLS:C4023345 A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the duodenum. HP:0012796 Increased cup-to-disc ratio biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012796 UMLS:C3805911 Increased cup disc ratio|Elevated cup to disc ratio An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells. HP:0012797 Lymphatic vessel neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012797 UMLS:C0206619|MSH:D018190|SNOMEDCT_US:115236002|NCIT:C3262 Lymphatic vessel tumor A benign or malignant neoplasm arising from the lymphatic vessels. HP:0011466 Aplasia/Hypoplasia of the gallbladder biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011466 UMLS:C4023344 Absent/small gallbladder|Absent/underdeveloped gallbladder Absence or underdevelopment of the gallbladder. HP:0012798 Pulmonary lymphangiomyomatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012798 MSH:D018192|SNOMEDCT_US:73017001|UMLS:C0751674|UMLS:C0238399 Pulmonary myomatosis|Lymphangioleiomyomatosis Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls. HP:0011467 Absent gallbladder biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011467 SNOMEDCT_US:86507001|MSH:C562564|UMLS:C0266251 Absent gallbladder|Agenesis of the gallbladder|Aplasia of the gallbladder A developmental defect in which the gallbladder fails to form. HP:0009160 Absent epiphysis of the proximal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009160 UMLS:C4024564 Absent end part of the innermost bone of pinky finger|Absent end part of the innermost bone of little finger|Absent end part of the innermost bone of pinkie finger Absence of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger. HP:0011468 Facial tics biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011468 UMLS:C0858722|UMLS:C4280325|SNOMEDCT_US:32402008|UMLS:C4280324|UMLS:C0278151|SNOMEDCT_US:230335009|UMLS:C0338467 Mimic spasms|Twitching of facial muscles|Facial spasms|Jerking of facial muscles|Cramping of facial muscles|Involuntary facial muscle spasms|Spasms of facial muscles|Muscle spasm of face|Facial tics|Myoclonus of facial muscles Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face. HP:0012799 Unilateral facial palsy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012799 UMLS:C4022719|UMLS:C0239516 Unilateral facial muscle weakness|Unilateral facial weakness|Unilateral facial paralysis|Paralysis of one side of the face|Unilateral facial muscle paralysis|Weakness of one side of the face One-sided weakness of the muscles of facial expression and eye closure. HP:0010137 Triangular epiphysis of the proximal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010137 UMLS:C4024022 Triangular end part of the innermost bone of the big toe HP:0010136 Stippling of the epiphysis of the proximal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010136 UMLS:C4024023 Speckled calcifications in the end part of the innermost bone of the big toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the hallux. HP:0010135 Small epiphysis of the proximal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010135 UMLS:C4024024 Small end part of the innermost bone of the big toe HP:0010134 Pseudoepiphysis of the proximal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010134 UMLS:C4024025 HP:0010133 Ivory epiphysis of the proximal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010133 UMLS:C4024026 Increased bone density of end part of the innermost bone of the big toe HP:0010132 Irregular epiphysis of the proximal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010132 UMLS:C4024027 Irregular end part of the innermost bone of the big toe HP:0012790 Abnormal intramembranous ossification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012790 UMLS:C4021069 Abnormal intramembranous bone ossification An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, parietal, occipital, and temporal bones, and the clavicles) are formed. HP:0010131 Fragmentation of the epiphysis of the proximal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010131 UMLS:C4024028 Fragmentation of the end part of the innermost bone of the big toe HP:0010130 Enlarged epiphysis of the proximal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010130 UMLS:C4024029 Enlarged end part of the innermost bone of the big toe HP:0012791 Abnormal humeral ossification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012791 UMLS:C4022722 Abnormal maturation of long bone in upper arm An anomaly of the process of formation of bone in the humerus. HP:0011460 Embryonal onset biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011460 UMLS:C4023348 Onset of disease at up to 8 weeks following fertilization (corresponding to 10 weeks of gestation). HP:0010139 Bracket epiphysis of the distal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010139 UMLS:C4024020 Bracket shaped end part of the outermost bone of big toe The epiphysis of the distal phalanx of the hallux surrounds the diaphysis, having a bracket-like form. HP:0010138 Absent epiphysis of the distal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010138 UMLS:C4024021 Absent end part of the outermost bone of the big toe Failure to form (agenesis) of the epiphysis of the distal phalanx of the hallux. HP:0011469 Nasal regurgitation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011469 SNOMEDCT_US:85023004|UMLS:C0232608 Regurgitation of milk through the nose. HP:0009159 Small epiphysis of the proximal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009159 UMLS:C4024565 Small end part of the innermost bone of pinky finger|Small end part of the innermost bone of little finger|Small end part of the innermost bone of pinkie finger Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms. HP:0009158 Enlarged epiphysis of the proximal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009158 UMLS:C4024566 Enlarged end part of the innermost bone of pinky finger|Enlarged end part of the innermost bone of pinkie finger|Enlarged end part of the innermost bone of little finger Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms. HP:0009155 Cone-shaped epiphysis of the proximal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009155 UMLS:C4020784|UMLS:C4020783 Cone-shaped end part of the innermost bone of pinky finger|Cone-shaped end part of the innermost bone of pinkie finger|Angel-shaped epiphysis of the proximal phalanx of the 5th finger|Cone-shaped end part of the innermost bone of little finger|Cone-shaped epiphysis of the proximal phalanx of the little finger A cone-shaped appearance of the epiphysis of the proximal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. HP:0009154 Triangular epiphysis of the proximal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009154 UMLS:C4021518 Triangular end part of the innermost bone of little finger|Triangular end part of the innermost bone of pinkie finger|Delta-shaped epiphysis of the proximal phalanx of the 5th finger|Triangular end part of the innermost bone of pinky finger A triangular appearance of the epiphysis of the proximal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. HP:0009157 Ivory epiphysis of the proximal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009157 UMLS:C4024567|UMLS:C4020782 Ivory epiphysis of the proximal phalanx of the little finger|Increased bone density of end part of the innermost bone of little finger|Increased bone density of end part of the innermost bone of pinky finger|Increased bone density of end part of the innermost bone of pinkie finger Sclerosis of the epiphysis of the proximal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. HP:0010195 Broad middle phalanges of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010195 UMLS:C4023975 Broad middle bones of the toes HP:0010194 Aplasia/Hypoplasia of the middle phalanges of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010194 UMLS:C4023976 Absent/underdeveloped middle bones of toe|Absent/small middle bones of toe HP:0010193 Duplication of distal phalanx of toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010193 UMLS:C4021322 Partial/complete duplication of the distal phalanges of the toes|Duplication of outermost bone of toe A partial or complete duplication of one or more distal phalanx of toe. HP:0010192 Triangular shaped distal phalanges of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010192 UMLS:C4023977 Triangular shaped outermost bone of the toes HP:0010191 Symphalangism affecting the distal phalanges of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010191 UMLS:C4023978 Fused outermost bones of toes HP:0010190 Patchy sclerosis of distal toe phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010190 UMLS:C4021323 Patchy sclerosis of the distal phalanges of the toes|Uneven increase in bone density in outermost toe bone Patchy (irregular) increase in bone density of one or more of the distal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays. HP:0010199 Patchy sclerosis of middle toe phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010199 UMLS:C4021319 Patchy sclerosis of the middle phalanges of the toes|Uneven increase in bone density in middle toe bone 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. HP:0010198 Osteolytic defects of the middle phalanges of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010198 UMLS:C4023974 HP:0010197 Curved middle toe phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010197 UMLS:C4021320 Curved middle phalanges of the toes|Curved middle bones of the toes A deviation from the normal straight form of one or more middle toe phalanges. HP:0010196 Bullet-shaped middle toe phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010196 UMLS:C4021321 Bullet-shaped middle phalanges of the toes|Bullet-shaped middle bones of the toes An abnormal morphology of one or more middle phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. HP:0009195 Epiphyseal stippling of the metacarpals biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009195 UMLS:C4021514 Speckled calcifications in end part of the long bone of hand|Stippling of the epiphyses of the metacarpals The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the metacarpals. HP:0010184 Abnormality of toe proximal phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010184 UMLS:C4021327 Abnormal innermost toe bone|Abnormality of the proximal phalanges of the toes A morphological anomaly of one or more proximal phalanges of one or more toes. HP:0009194 Small epiphyses of the metacarpals biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009194 UMLS:C4024543 Small end part of the long bone of hand Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms. HP:0010183 Abnormality of the middle phalanges of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010183 UMLS:C4023981 Abnormal middle bones of toe HP:0010182 Abnormality of the distal phalanges of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010182 UMLS:C4023982 Abnormality of the outermost bone of the toes HP:0009197 Bracket epiphysis of the proximal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009197 UMLS:C4024542 Bracket shaped end part of the innermost bone of the pinkie finger|Bracket shaped end part of the innermost bone of the little finger|Bracket shaped end part of the innermost bone of the pinky 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. HP:0009196 Absent metacarpal epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009196 UMLS:C4021513 Absent metacarpal ossification center|Absent end part of the long bone of hand Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals. HP:0010181 Duplication of phalanx of toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010181 UMLS:C4021328 Partial/complete duplication of the phalanges of the toes|Duplicated toe bone Partial/complete duplication of one or more phalanx of toe. HP:0010180 Triangular shaped phalanges of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010180 UMLS:C4023983 Triangular shaped toe bones HP:0009191 Ivory epiphyses of the metacarpals biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009191 UMLS:C4024545 Increased bone density of end part of the long bone of hands Sclerosis of the epiphyses of the metacarpals, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. HP:0009190 Irregular epiphyses of the metacarpals biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009190 UMLS:C4024546 Irregular end part of the long bone of hand Irregular radiographic opacity of the epiphyses of the metacarpals. HP:0009193 Pseudoepiphyses of the metacarpals biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009193 UMLS:C1860253 Metacarpal pseudoepiphyses|Accessory proximal metacarpal ossification centers 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. HP:0009192 Aplasia/Hypoplasia of the proximal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009192 UMLS:C4024544 Absent/underdeveloped innermost pinky finger bone|Absent/small innermost pinky finger bone|Absent/small innermost little finger bone|Absent/small innermost pinkie finger bone Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger. HP:0010189 Osteolytic defects of the distal phalanges of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010189 UMLS:C4023979 HP:0010188 Curved distal toe phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010188 UMLS:C4021324 Curved outermost bone of the toe|Curved distal phalanges of the toes A deviation from the normal straight form of one or more distal toe phalanges. HP:0010187 Bullet-shaped distal toe phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010187 UMLS:C4021325 Bullet-shaped outermost bone of the toe|Bullet-shaped distal phalanges of the toes 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. HP:0010186 Broad distal phalanx of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010186 UMLS:C4023980 Broad outermost bone of the toe|Wide outermost bone of the toe Increased width of the distal phalanx of toe of one or more toes. HP:0010185 Aplasia/Hypoplasia of the distal phalanges of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010185 UMLS:C4020773|UMLS:C4021326 Absent/underdeveloped outermost bones of toe|Absent/hypoplastic terminal phalanges of toes|Hypoplasia/agenesis of distal phalanges of toes|Absent/small outermost bones of toe Absence or underdevelopment of the distal phalanges of the toes. HP:0009188 Pseudoepiphysis of the distal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009188 UMLS:C4024548 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. HP:0009187 Bracket epiphysis of the distal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009187 UMLS:C4024549 Bracket shaped end part of the outermost little finger bone|Bracket shaped end part of the outermost pinkie finger bone|Bracket shaped end part of the outermost pinky finger bone An abnormality of the distal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. HP:0009189 Fragmentation of the metacarpal epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009189 UMLS:C4024547 Fragmentation of end part of the long bone of hand Fragmented appearance of the epiphyses of the metacarpals. HP:0010173 Aplasia/Hypoplasia of the phalanges of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010173 UMLS:C4023987 Absent/underdeveloped toe bones|Absent/small toe bones HP:0010172 Triangular epiphyses of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010172 UMLS:C4023988 Triangular end part of the toe bones HP:0010171 Epiphyseal stippling of toe phalanges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010171 UMLS:C4021332 Speckled calcifications in long toe bones|Stippling of the epiphyses of the toes The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the toes. HP:0010170 Small epiphyses of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010170 UMLS:C4023989 Small end part of the toe bones HP:0010179 Symphalangism affecting the phalanges of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010179 UMLS:C4023984 Fused toe bones HP:0010178 Patchy sclerosis of toe phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010178 UMLS:C4021329 Patchy sclerosis of the phalanges of the toes|Uneven increase in bone density in toe bone Uneven (irregular) increase in bone density of one or more of the phalanges of the foot. HP:0010177 Osteolytic defects of the phalanges of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010177 UMLS:C4023985 HP:0010176 Curved toe phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010176 UMLS:C4021330 Curved toe bone|Curved phalanges of the toes A deviation from the normal straight form of one or more toe phalanges. HP:0010175 Bullet-shaped toe phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010175 UMLS:C4021331 Bullet-shaped toe bone|Bullet-shaped phalanges of the toes An abnormal morphology of one or more phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. HP:0010174 Broad phalanx of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010174 UMLS:C4023986 Wide toe bones Increased width of phalanx of one or more toes. HP:0009199 Irregular epiphysis of the proximal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009199 UMLS:C4024541 Irregular end part of the innermost pinkie finger bone|Irregular end part of the innermost little finger bone|Irregular end part of the innermost pinky finger bone Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger. HP:0009198 Abnormality of the epiphysis of the distal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009198 UMLS:C4021512 Abnormality of end part of the outermost bone of the pinky finger|Abnormality of end part of the outermost bone of the little 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 Abnormality of the epiphysis of the distal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx. HP:0500030 Abnormal hepatic glycogen storage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500030 Change in normal glycogen storage content. HP:0011650 Bilateral ductus arteriosus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011650 UMLS:C0431501|SNOMEDCT_US:461093009 Bilateral ductus botalli The presence of both a left and a right ductus arteriosus. HP:0500032 Abnormal neuron branching biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500032 Aberrant neuronal branching|Abnormal neuronal branching Abnormality of the structure and branching of the dendrites of a neuron. HP:0011651 Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011651 SNOMEDCT_US:448516008|UMLS:C3165091 DORV with doubly committed VSD and pulmonary stenosis A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. HP:0500031 Sclerosis of the carpal bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500031 An elevation in bone density in one or more carpal bones of the hand. HP:0500034 Nasolacrimal sac obstruction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500034 Blockage of the nasolacrimal sac. HP:0011652 Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011652 UMLS:C4023247|Fyler:604|Fyler:0604 Double outlet right ventricle, doubly committed ventricular septal defect|DORV with doubly committed VSD 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. HP:0500033 Abnormal natural killer subset distribution biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500033 Any abnormality in the proportion natural killer subsets relative to the total number of natural killer cells. HP:0011653 Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011653 UMLS:C4023246 DORV with non-committed VSD and pulmonary stenosis A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, and also has a pulmonary stenosis; abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. HP:0500036 Nasolacrimal sac papilloma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500036 Benign tumor of the nasolacrimal sac. HP:0011654 Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011654 UMLS:C4023245|Fyler:603|Fyler:0603 DORV with non-committed VSD without pulmonary stenosis|Double outlet right ventricle, noncommitted ventricular septal defect 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. HP:0011655 Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011655 UMLS:C4023244 DORV with subaortic VSD and pulmonary stenosis A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. HP:0500035 Nasolacrimal sac granuloma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500035 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. HP:0000998 Hypertrichosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000998 UMLS:C0020555|MSH:D006983|SNOMEDCT_US:271607001|SNOMEDCT_US:29966009 Increased hair growth on body|Excessive hair growth Hypertrichosis is increased hair growth that is abnormal in quantity or location. HP:0010324 Abnormality of phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010324 UMLS:C4023903 Abnormality of the 2nd toe bone An anomaly of a phalanx of second toe. HP:0010323 Abnormality of the epiphyses of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010323 UMLS:C4023904 Abnormality of the end part of the 2nd toe bone HP:0500037 Nasolacrimal sac epithelial papillary carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500037 The malignant epithelial neoplasm with papillary growths in the nasolacrimal sac. HP:0000997 Axillary freckling biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000997 UMLS:C1860335 The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. HP:0010322 Abnormality of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010322 UMLS:C4023905 Abnormality of the little toe|Abnormality of the pinkie toe|Abnormality of the pinky toe An anomaly of the little toe. HP:0500039 Conjunctival cicatrization biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500039 Conjunctival cicatricial conjunctivitis|Cicatricial conjunctivitis|Cicatrizating conjunctivitis An abnormality of the conjuctiva and ocular surface caused by conjunctival inflammation and associated with scarring. HP:0010321 Abnormality of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010321 UMLS:C4023906 Abnormality of the 4th toe An anomaly of the fourth toe. HP:0000999 Pyoderma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000999 MSH:D011711|SNOMEDCT_US:70759006|UMLS:C0034212 Pus-filled lesion Any manifestation of a skin disease associated with the production of pus. HP:0010320 Abnormality of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010320 UMLS:C4023907 Abnormality of the 3rd toe An anomaly of the third toe. HP:0000992 Cutaneous photosensitivity biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000992 SNOMEDCT_US:90128006|UMLS:C0349506|MSH:D010787 Sun sensitivity|Sensitivity to sunlight|Photosensitive skin|Photosensitive skin rashes|Photosensitivity|Skin 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. HP:0010329 Abnormality of the epiphyses of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010329 UMLS:C4023900 Abnormality of the end part of the 3rd toe bone HP:0000991 Xanthomatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000991 UMLS:C0043325|MSH:D014973|SNOMEDCT_US:63103006 Yellow bumps of fatty deposits on skin|Xanthomata The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin. HP:0009328 Pseudoepiphysis of the middle phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009328 UMLS:C4021491 Pseudoepiphyses of middle phalanx of middle-finger A secondary ossification center in the middle phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. HP:0010328 Polydactyly affecting the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010328 UMLS:C4023901 HP:0010327 Flexion contracture of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010327 UMLS:C4021296 Joint contractures of the 2nd toe One or more bent (flexed) joints of the second toe that cannot be straightened actively or passively. HP:0009327 Ivory epiphysis of the middle phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009327 UMLS:C4024438 Increased bone density of end part of the middle bone of the middle 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. HP:0000993 Molluscoid pseudotumors biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000993 UMLS:C1844597 Molluscoid pseudotumor Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees. HP:0010326 Deviation of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010326 UMLS:C4021297 Displacement of the 2nd toe HP:0000996 Facial capillary hemangioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000996 UMLS:C1858545 Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face. HP:0010325 Aplasia/Hypoplasia of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010325 UMLS:C4023902 Absent/small 2nd toe|Absent/underdeveloped 2nd toe HP:0000995 Melanocytic nevus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000995 SNOMEDCT_US:400096001|MSH:D009508|UMLS:C0027962|SNOMEDCT_US:21119008|UMLS:C4280269 Pigmented nevi|Noncancerous mole|Pigmented naevi|Beauty mark|Melanocytic nevi|Nevocellular nevi|Melanocytic naevus 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. HP:0009329 Small epiphysis of the middle phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009329 UMLS:C4024437 Small end part of the middle bone of the middle 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. HP:0011656 Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011656 UMLS:C4023243 DORV with subaortic VSD without pulmonary stenosis A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. HP:0009324 Enlarged epiphysis of the middle phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009324 UMLS:C4024441 Enlarged end part of the middle bone of the middle finger Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms. HP:0009323 Cone-shaped epiphysis of the middle phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009323 UMLS:C4024442 Cone-shaped end part of the middle bone of the middle finger A cone-shaped appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. HP:0011657 Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011657 UMLS:C4023242 DORV with subpulmonary VSD and pulmonary stenosis A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. HP:0011658 Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011658 UMLS:C4023241 DORV with subpulmonary VSD without pulmonary stenosis|Taussig-Bing anomaly A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. HP:0009326 Irregular epiphysis of the middle phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009326 UMLS:C4024439 Irregular end part of the middle bone of the middle finger Irregular radiographic opacity of the epiphysis of the middle phalanx of the 3rd finger. HP:0009325 Fragmentation of the epiphysis of the middle phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009325 UMLS:C4024440 Fragmentation of end part of the middle bone of the middle finger Fragmented appearance of the epiphysis of the middle phalanx of the 3rd finger. HP:0011659 Tetralogy of Fallot with absent pulmonary valve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011659 SNOMEDCT_US:399228007|UMLS:C1302264 Tetralogy of Fallot with absent pulmonary valve syndrome Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue. HP:0009320 Abnormality of the epiphyses of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009320 UMLS:C4024445 Abnormality of end part of the middle bone of the middle finger Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger. HP:0009322 Bracket epiphysis of the middle phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009322 UMLS:C4024443 Bracket shaped end part of the middle bone of the middle finger An abnormality of the middle phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. HP:0009321 Absent epiphysis of the middle phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009321 UMLS:C4024444 Absent end part of the middle bone of the middle finger Absence of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger. HP:0009340 Irregular epiphysis of the distal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009340 UMLS:C4024427 Irregular end part of the outermost long bone of the middle finger Irregular radiographic opacity of the epiphysis of the distal phalanx of the 3rd finger. HP:0500021 Reduced brain gamma-aminobutyric acid level by MRS biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500021 An decreased level of gamma-aminobutyric acid in the brain identified by magnetic resonance spectroscopy (MRS). HP:0500020 Abnormal cardiac biomarker test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500020 Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes. HP:0011640 Single coronary artery origin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011640 UMLS:C4023251 The presence of a single coronary artery ostium from which both coronary arteries arise. HP:0500023 Shoulder muscle aplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500023 Absent shoulder muscle Absence of shoulder muscles. HP:0011641 Coronary artery fistula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011641 SNOMEDCT_US:373093003|UMLS:C0265898|Fyler:2230 Coronary fistula A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel. HP:0011642 Abnormal coronary sinus morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011642 UMLS:C0344680|Fyler:2840|SNOMEDCT_US:253323000 Abnormality of the coronary sinus An abnormality of the coronary sinus, which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium. HP:0500022 Abnormal serum dehydroepiandrosterone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500022 Abnormal serum DHEA|Abnormal serum androstenolone level A deviation from the normal concentration of dehydroepiandrosterone in the circulation. HP:0011643 Coronary sinus atrial septal defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011643 ICD-10:Q21.1|UMLS:C2063331 An atrial septal defect characterized by a deficiency in the tissue separating the coronary sinus from the left atrium (LA). This results in partial or complete unroofing of the coronary sinus leading to a predominantly left-to-right shunt through the coronary sinus (LA to coronary sinus to right atrium [RA]). The orifice of the ostium is frequently large because of the increased flow. From the RA side, the defect is located at the level of the coronary sinus ostium and may also include some deficiency in atrial tissue around the ostium. From the LA side, the size can be variable depending on the degree of unroofing of the coronary sinus. HP:0011644 Coronary sinus diverticulum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011644 UMLS:C3163894|SNOMEDCT_US:447661004 Diverticulum of the coronary sinus A venous pouch within the left ventricular wall, with a neck opening into the coronary sinus. HP:0500024 Aplasia of the musculature of the pelvis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500024 Absence of the musculature of the pelvis. HP:0500027 Aplastic colon biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500027 Aplasia of the colon|Absence of the colon Congenital absence of the colon HP:0010313 Breast hypertrophy biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010313 UMLS:C2225524|SNOMEDCT_US:372283008|SNOMEDCT_US:372285001|UMLS:C0020565|MSH:C536821|SNOMEDCT_US:372281005|UMLS:C0392533 Large breast|Hypertrophy of the breasts|Gigantomastia|Breast enlargement|Macromastia|Breasts enlarged The presence of hypertrophy of the breast. HP:0010312 Asymmetry of the breasts biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010312 UMLS:C1854013|MSH:C565299 The presence of asymmetrical breasts. HP:0500026 Hypoplasia of the musculature of the pelvis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500026 Underdevelopment of the musculature of the pelvis. HP:0010311 Aplasia/Hypoplasia of the breasts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010311 UMLS:C4023911 Absent/small breasts|Absent/underdeveloped breasts Absence or underdevelopment of the breasts. HP:0010310 Chylothorax biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010310 UMLS:C0008733|SNOMEDCT_US:83035003|MSH:D002916 Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity. HP:0500028 Cotton wool plaques biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500028 CWPs Deposition of large, diffuse cotton wool amyloid plaques (CWPs) lacking a dense core and associated neuritic changes. HP:0010319 Abnormality of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010319 UMLS:C4023908 An anomaly of the second toe. HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010318 UMLS:C4023909 Absent/small abdominal wall muscles|Absent/underdeveloped abdominal wall muscles Absence or underdevelopment of the abdominal musculature. HP:0009339 Fragmentation of the epiphysis of the distal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009339 UMLS:C4024428 Fragmentation of end part of the outermost bone of the middle finger Fragmented appearance of the epiphysis of the distal phalanx of the 3rd finger. HP:0010317 Scapular aplasia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010317 UMLS:C4021298 Absent scapula|Absent shoulder blade Absence of the scapulae. HP:0008008 obsolete Progressive central visual loss biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008008 HP:0010316 Ebstein anomaly of the tricuspid valve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010316 EPCC:06.01.34|SNOMEDCT_US:204357006|ICD-10:Q22.5|MSH:D004437|UMLS:C0013481 Ebstein's anomaly|Ebstein's anomaly of the tricuspid valve|Ebstein's malformation Ebstein's anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet. HP:0009338 Enlarged epiphysis of the distal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009338 UMLS:C4024429 Enlarged end part of the outermost bone of the 3rd finger Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms. HP:0008007 Primary congenital glaucoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008007 SNOMEDCT_US:415176004|UMLS:C1533041 HP:0010315 Aplasia/Hypoplasia of the diaphragm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010315 UMLS:C4023910 Absent/underdeveloped diaprhagm|Absent/small diaprhagm Absence or underdevelopment of the diaphragm. HP:0010314 Premature thelarche biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010314 SNOMEDCT_US:102889008|UMLS:C0425772 Premature breast development Premature development of the breasts. HP:0008009 Three rows of eyelashes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008009 UMLS:C1860785 Three rows of eyelashes|Triple row of eyelashes HP:0011645 Dilatation of the sinus of Valsalva biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011645 Fyler:2316|UMLS:C2239253|SNOMEDCT_US:54160000 Aneurysm of the aortic sinus|Aortic sinus aneurysm|Sinus of Valsalva aneurysm Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve. HP:0009335 Absent epiphysis of the distal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009335 UMLS:C4024432 Absent end part of the outermost bone of the middle finger Absence of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger. HP:0009334 Abnormality of the epiphysis of the middle phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009334 UMLS:C4024433 Abnormality of the middle part of the middle bone of the middle finger HP:0011646 Juxtaductal coarctation of the aorta biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011646 UMLS:C4023250 Narrowing or constriction of the aorta localized at the insertion of the ductus arteriosus, i.e., to the juxtaductal region of aortic arch. HP:0008003 Jerky ocular pursuit movements biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008003 UMLS:C1853558 Jerky smooth pursuit HP:0011647 Postductal coarctation of the aorta biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011647 SNOMEDCT_US:72242008|UMLS:C0265879 Postductal aortic coarctation Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch. HP:0009337 Cone-shaped epiphysis of the distal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009337 UMLS:C4024430 Cone-shaped end part of the outermost bone of the middle finger A cone-shaped appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. HP:0009336 Bracket epiphysis of the distal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009336 UMLS:C4024431 Bracket shaped end part of the outermost bone of the middle finger An abnormality of the distal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. HP:0011648 Patent ductus arteriosus after birth at term biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011648 UMLS:C4023249 Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater. HP:0008005 Congenital corneal dystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008005 UMLS:C1611195 HP:0008000 Decreased corneal reflex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008000 UMLS:C0151572|MSH:D012021|SNOMEDCT_US:103254005 Decreased blink reflex|Reduced corneal reflex An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids. HP:0011649 Patent ductus arteriosus after premature birth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011649 UMLS:C4023248 Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation. HP:0009331 Triangular epiphysis of the middle phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009331 UMLS:C4021490 Triangular end part of the middle bone of the middle finger|Delta-shaped epiphysis of the middle phalanx of the 3rd finger A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. HP:0009330 Stippling of the epiphysis of the middle phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009330 UMLS:C4024436 Speckled calcifications in end part of the middle bone of the middle finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 3rd finger. HP:0008002 Abnormality of macular pigmentation biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0008002 UMLS:C1837087|UMLS:C4024756 Macular pigmentary changes Abnormality of macular or foveal pigmentation. HP:0009333 Abnormality of the epiphysis of the proximal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009333 UMLS:C4024434 Abnormality of the end part of the innermost bone of the middle finger HP:0008001 Foveal hyperpigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008001 UMLS:C3809301 Increased amount of pigmentation in the fovea centralis. HP:0009332 Abnormality of the epiphysis of the distal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009332 UMLS:C4024435 Abnormality of the end part of the outermost bone of the middle finger HP:0500010 obsolete Increased cholesterol esters biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500010 HP:0011630 Complete diaphragmatic absence of pericardium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011630 UMLS:C4023259 No pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart. HP:0500012 Abnormality of gonadotropin-releasing hormone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500012 Abnormality of GnRH level A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone level secreted from the pituitary gland. HP:0500011 Moon facies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500011 Puffy face|Puffy facies|Moon face A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin. HP:0011631 Complete right sided absence of pericardium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011631 UMLS:C4023258 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. HP:0011632 Partial right sided absence of pericardium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011632 UMLS:C4023257 A congenital anomaly with lack of part of the pericardium on the righthand side of the heart. HP:0500014 obsolete Abnormal test result biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500014 HP:0011633 Complete left sided absence of pericardium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011633 UMLS:C4023256 Absent lining around of left side of heart A congenital anomaly with complete lack of the pericardium on the lefthand side of the heart. HP:0500013 Lack of gonadotropin-releasing hormone pulsatility biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500013 Absence of GnRH pulsatility Secretion of gonadotropin-releasing hormone that does not occur in a pulsatile fashion. HP:0010302 Spinal cord tumor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010302 UMLS:C0037930|MSH:D013120|SNOMEDCT_US:126962006|NCIT:C3262 Spinal cord tumour|Spinal tumor|Spinal cord tumor|Tumor of the spinal cord|Spinal tumors A neoplasm affecting the spinal cord. HP:0000976 Eczematoid dermatitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000976 SNOMEDCT_US:281104002|MSH:D004485|UMLS:C0013595|SNOMEDCT_US:43116000 HP:0500016 Abnormal cardiac MRI biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500016 Abnormal cardiac magnetic resonance imaging|Abnormal heart MRI Abnormal results of a MRI for the heart. HP:0000975 Hyperhidrosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000975 SNOMEDCT_US:161857006|SNOMEDCT_US:415690000|SNOMEDCT_US:312230002|SNOMEDCT_US:415691001|UMLS:C0020458|MSH:D013546|UMLS:C0700590|MEDDRA:10020642|SNOMEDCT_US:52613005|MSH:D006945|SNOMEDCT_US:364538006|UMLS:C0038990 Diaphoresis|Sweating profusely|Increased sweating|Sweating, increased|Profuse sweating|Excessive sweating|Sweating Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. HP:0010301 Spinal dysraphism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010301 UMLS:C0027794|SNOMEDCT_US:253098009|MSH:D009436 Incomplete closure of the vertebral arch A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life. HP:0500015 Abnormal cardiac test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500015 Abnormal test result of cardiovascular physiology. HP:0000978 Bruising susceptibility biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000978 SNOMEDCT_US:425075004|SNOMEDCT_US:302227002|UMLS:C0013491|SNOMEDCT_US:77643000|UMLS:C0423798|MSH:D004438|SNOMEDCT_US:424131007 Bruise easily|Easy bruisability|Easy bruising|Bruisability|Bruising susceptibility An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. HP:0500018 Abnormal cardiac exercise stress test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500018 Abnormal treadmill test|Abnormal cardiac exercise test|Abnormal exercise test Abnormal results of exercise on heart function. HP:0010300 Abnormally low-pitched voice biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010300 UMLS:C4023915 An abnormally low-pitched voice. HP:0000977 Soft skin biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000977 UMLS:C1844592|UMLS:C0241178 Velvety skin texture|Velvety skin|Soft skin Subjective impression of increased softness upon palpitation of the skin. HP:0500017 Abnormal cardiac catheterization biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500017 Abnormal cardiac cath Abnormal results from the diagnostic tests resulting from cardiac catheterization. HP:0500019 Abnormal resting energy expenditure from metabolic cart test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500019 Abnormal 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). HP:0000979 Purpura biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000979 UMLS:C0034150|SNOMEDCT_US:423902002|SNOMEDCT_US:12393003|SNOMEDCT_US:387778001|MSH:D011693 Blood spots|Red or purple spots on the skin Purpura (from Latin: purpura, meaning "purple") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae. HP:0009309 Triangular shaped middle phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009309 UMLS:C4024452 Triangular shaped middle bone of the ring finger Triangular shaped middle phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. HP:0010309 Bifid sternum biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010309 SNOMEDCT_US:54008006|UMLS:C0265696 Sternal cleft The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum. HP:0010308 Asternia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010308 UMLS:C4023912 Breast bone aplasia|Aplasia of the sternum The congenital absence of the sternum. HP:0000970 Anhidrosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000970 UMLS:C0003028|MEDDRA:10002512|SNOMEDCT_US:39659002|MSH:D007007|SNOMEDCT_US:14662005 Sweating dysfunction|Lack of sweating|Sudomotor dysfunction|Anhydrosis Inability to sweat. HP:0010307 Stridor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010307 SNOMEDCT_US:248573009|UMLS:C0038450|MSH:D012135|UMLS:C0237304|SNOMEDCT_US:70407001 Noisy breathing Stridor is a high pitched sound resulting from turbulent air flow in the upper airway. HP:0000972 Palmoplantar hyperkeratosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000972 MSH:D007645|SNOMEDCT_US:706885006|UMLS:C0022596 Hyperkeratosis of the palms and soles|Palmoplantar keratoses|Palmoplantar keratosis|Thickening of the outer layer of the skin of the palms and soles|Hyperkeratosis of palms and soles|Thick palms and soles|Thickened palms and soles Hyperkeratosis affecting the palm of the hand and the sole of the foot. HP:0010306 Short thorax biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010306 SNOMEDCT_US:249670005|UMLS:C0426789 Shorter than typical length between neck and abdomen Reduced inferior to superior extent of the thorax. HP:0009306 Triangular shaped distal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009306 UMLS:C4024455 Triangular shaped outermost bone of the ring finger Triangular shaped distal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. HP:0010305 Absence of the sacrum biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010305 MSH:C537221|SNOMEDCT_US:205425003|UMLS:C0344490 Absent sacrum|Sacrococcygeal agenesis|Sacral agenesis Absence (aplasia) of the sacrum. HP:0000971 Abnormal sweat gland morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000971 UMLS:C0262643|UMLS:C4020881|UMLS:C0038986|MSH:D013543|SNOMEDCT_US:88232005 Abnormalities of sweating|Sweat gland disease|Abnormality of the sweat gland Any structural abnormality of the sweat gland. HP:0009305 Distal/middle symphalangism of 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009305 UMLS:C4021495 Fused outermost and middle bones of ring finger|Symphalangism of the distal and middle phalanges of the 4th finger Fusion of the terminal/distal and middle phalanges of the 4th finger. HP:0010304 Spinal meningeal diverticulum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010304 UMLS:C4023913 An outpouching of the spinal meninges. HP:0009308 Symphalangism of middle phalanx of 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009308 UMLS:C4024453 Fused middle bone of ring finger Fusion of the middle phalanx of the 4th finger with another bone. HP:0000974 Hyperextensible skin biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000974 UMLS:C0241074 Hyperelastic skin|Skin hyperelasticity|Skin hyperextensibility|Stretchable skin A condition in which the skin can be stretched beyond normal, and then returns to its initial position. HP:0009307 Patchy sclerosis of the middle phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009307 UMLS:C4024454 Uneven increase in bone density in the middle bone of the ring finger Uneven (irregular) increase in bone density of the middle phalanx of the fourth finger. HP:0000973 Cutis laxa biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000973 UMLS:C2930812|UMLS:C0010495|MSH:D003483|MSH:C531660|SNOMEDCT_US:58588007|UMLS:C4280606 Lax skin|Skin laxity|Chalazoderma|Hanging skin|Dermatomegaly|Dermatochalasia|Loose and inelastic skin|Hypoelastic skin|Elastolysis|Cutaneous laxity|Generalized elastolysis|Loose skin|Inelastic skin Wrinkled, redundant, inelastic and sagging skin. HP:0010303 Abnormal spinal meningeal morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010303 UMLS:C4023914 Abnormality of the spinal meninges Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord. HP:0009302 Bullet-shaped distal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009302 UMLS:C4024458 Bullet-shaped outermost bone of ring finger Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 4th finger is affected. HP:0011634 Partial left sided absence of pericardium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011634 UMLS:C4023255 A congenital anomaly with lack of part of the pericardium on the lefthand side of the heart. HP:0009301 Short proximal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009301 UMLS:C4021496 Short proximal phalanx of the fourth finger|Short innermost bone of the ring finger|Hypoplastic/small proximal phalanx of the 4th finger Hypoplastic/small proximal phalanx of the fourth finger. HP:0011635 Partial diaphragmatic absence of pericardium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011635 UMLS:C4023254 Lack of a part of the pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart. HP:0011636 Abnormal coronary artery origin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011636 UMLS:C4023253 Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries. HP:0009304 Patchy sclerosis of the distal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009304 UMLS:C4024456 Uneven increase in bone density in the outermost bone of the ring finger Uneven (irregular) increase in bone density of the distal phalanx of the fourth finger. HP:0009303 Osteolytic defects of the distal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009303 UMLS:C4024457 Dissolution or degeneration of bone tissue of the distal phalanx of the 4th finger. HP:0011637 Anomalous origin of coronary artery from the pulmonary artery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011637 UMLS:C4023252 A coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta. HP:0011638 Anomalous origin of left coronary artery from the pulmonary artery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011638 Fyler:3101|UMLS:C3472166|SNOMEDCT_US:450301003 Anomalous left coronary artery from the pulmonary artery|ALCAPA|Bland-Garland-White syndrome Left main coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the left cusp of the aortic valve. HP:0011639 Anomalous origin of right coronary artery from the pulmonary artery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011639 UMLS:C3472165|SNOMEDCT_US:450300002 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. HP:0009300 Aplasia/Hypoplasia of the proximal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009300 UMLS:C4020658 Absent/small innermost ring finger bone|Absent/underdeveloped innermost ring finger bone HP:0500001 Body odor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500001 Osmidrosis|Body odour|Bromidrosis|Bromhidrosis|Body odor|BO A perceived unpleasant smell given off by the body. HP:0011620 Abnormality of abdominal situs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011620 UMLS:C4023266 An abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs. HP:0011621 Gerbode ventricular septal defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011621 UMLS:C0265812|UMLS:C4023265|SNOMEDCT_US:41893002 Left ventricular - right atrial communication A type of ventricular septal defect communicating directly between the left ventricle and right atrium. This is anatomically possible because the normal tricuspid valve is more apically displaced than the mitral valve. HP:0011622 Inlet ventricular septal defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011622 Fyler:1340 Atrioventricular canal type ventricular septal defect|Type 3 ventricular septal defect A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus. HP:0000987 Atypical scarring of skin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000987 UMLS:C4021786 Atypical scarring of skin|Atypical scarring Atypically scarred skin . HP:0500005 Anal pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500005 Rectal pain|Anal pain Pain in and around the anus or rectum (perianal region). HP:0500007 Iris flocculi biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500007 Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris. HP:0000989 Pruritus biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000989 SNOMEDCT_US:279333002|MSH:D011537|SNOMEDCT_US:418363000|UMLS:C0033774|SNOMEDCT_US:424492005|SNOMEDCT_US:418290006 Skin itching|Itching|Itchy skin|pruritis 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. HP:0000988 Skin rash biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000988 UMLS:C0015230|SNOMEDCT_US:112625008|MEDDRA:10037844|MSH:D005076|SNOMEDCT_US:271807003 Skin rash|Exanthem|Rash A red eruption of the skin. HP:0500006 Urethritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500006 Inflammation of the urethra. HP:0500009 Dysplastic gangliocytoma of the cerebellum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500009 LDD|Lhermitte-Duclos disease It is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum. HP:0500008 Cornea verticillata biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500008 Vortex keratopathy Golden brown or gray deposits with a clockwise, whorl-like distribution in the inferior interpalpebal portion of the cornea. HP:0000980 Pallor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000980 SNOMEDCT_US:398979000|UMLS:C0030232|MSH:D010167 Paleness|Skin paleness Abnormally pale skin. HP:0009317 Deviation of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009317 UMLS:C4021493 Deviated middle finger Displacement of the 3rd finger from its normal position. HP:0009316 Abnormal 3rd finger phalanx morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009316 UMLS:C4021494 Abnormality of middle finger phalanges|Abnormality of the middle finger bones|Abnormality of 3rd finger phalanges|Abnormality of the phalanges of the 3rd finger Abnormality of the phalanges of the 3rd (middle) finger. HP:0000982 Palmoplantar keratoderma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000982 UMLS:C0022596|MSH:D007645|SNOMEDCT_US:706885006 Thickening of palms and soles|Palmar and plantar keratoderma Abnormal thickening of the skin of the palms of the hands and the soles of the feet. HP:0009319 Joint contracture of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009319 UMLS:C4021492 Camptodactyly of middle finger Chronic loss of joint motion in the 3rd finger due to structural changes in non-bony tissue. The term camptodactyly of the 3rd finger is used if the distal and/or proximal interphalangeal joints are affected. HP:0009318 Aplasia/Hypoplasia of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009318 UMLS:C4024446 Absent/small middle finger|Absent/underdeveloped middle finger A small/hypoplastic or absent/aplastic 3rd (middle) finger. HP:0011623 Muscular ventricular septal defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011623 UMLS:C0685707|SNOMEDCT_US:94706008|Fyler:1320 Ventricular septal defect, muscular|Type 4 ventricular septal defect The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle. HP:0009313 Patchy sclerosis of the proximal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009313 UMLS:C4024449 Uneven increase in bone density in the innermost bone of the ring finger Uneven (irregular) increase in bone density of the proximal phalanx of the fourth finger. HP:0011624 Apical muscular ventricular septal defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011624 UMLS:C4023264 A muscular ventricular septal defect located at the apex of the heart. HP:0009312 Osteolytic defects of the proximal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009312 UMLS:C4024450 Dissolution or degeneration of bone tissue of the proximal phalanx of the 4th finger. HP:0011625 Multiple muscular ventricular septal defects biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011625 UMLS:C4023263 Swiss cheese ventricular septal defect A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum. HP:0009315 Triangular shaped proximal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009315 UMLS:C4024447 Triangular shaped innermost bone of the ring finger|Triangular shaped innermost bone of the 4th finger Triangular shaped proximal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. HP:0009314 Symphalangism affecting the proximal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009314 UMLS:C4024448 Fused innermost bone of ring finger Fusion of the proximal phalanx of the 4th finger with another bone. HP:0011626 Scimitar anomaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011626 SNOMEDCT_US:39905002|SNOMEDCT_US:111323005|ICD-10:Q26.8|MSH:D012587|UMLS:C0036400 Scimitar syndrome|Pulmonary venolobar syndrome Right pulmonary venous return to the inferior vena cava. HP:0011627 Aorto-ventricular tunnel biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011627 UMLS:C4023262 Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinutubular junction to the cavity of the left, or (less commonly) right ventricle. HP:0011628 Congenital defect of the pericardium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011628 UMLS:C4023261 A developmental defect of the pericardium with congenital onset. HP:0009311 Bullet-shaped proximal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009311 UMLS:C4024451 Bullet-shaped innermost ring finger bone Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 4th finger is affected. HP:0011629 Total absence of the pericardium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011629 SNOMEDCT_US:253732001|UMLS:C0345140|Fyler:1910 Absent pericardium|Congenital absence of the pericardium No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy. HP:0009310 Broad proximal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009310 UMLS:C4020660 Broad innermost ring finger bone Increased width of the proximal phalanx of the 4th finger. HP:0009371 Type A1 brachydactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009371 SNOMEDCT_US:715720006|UMLS:C1862151|MSH:C537088 HP:0010360 Broad phalanges of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010360 UMLS:C4023881 Wide bones of 3rd toe HP:0011692 Supraventricular tachycardia with a concealed accessory pathway on the right free wall biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011692 UMLS:C4023229 HP:0011693 Supraventricular tachycardia with a concealed accessory pathway on the septum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011693 UMLS:C4023228 HP:0009370 Type A brachydactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009370 UMLS:C4024413 HP:0009373 Type C brachydactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009373 MSH:C537093|UMLS:C1862103 HP:0011694 Supraventricular tachycardia with a manifest accessory pathway biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011694 UMLS:C4023227 HP:0011695 Cerebellar hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011695 UMLS:C0149854|SNOMEDCT_US:75038005 Cerebellar haemorrhage Hemorrhage into the parenchyma of the cerebellum. HP:0008041 Late onset congenital glaucoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008041 UMLS:C1856441 HP:0009372 Type A2 brachydactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009372 MSH:C537089|UMLS:C1832702 Short index fingers and second toes HP:0011696 Supraventricular tachycardia with a manifest accessory pathway on the left free wall biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011696 UMLS:C4023226 HP:0011697 Supraventricular tachycardia with a manifest accessory pathway on the right free wall biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011697 UMLS:C4023225 HP:0011698 Supraventricular tachycardia with a manifest accessory pathway on the septum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011698 UMLS:C4023224 HP:0011699 Atrial reentry tachycardia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011699 UMLS:C4023223 HP:0010368 Abnormality of the distal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010368 UMLS:C4023878 Abnormality of the outermost bone of the 3rd toe HP:0010367 Duplication of phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010367 UMLS:C4021282 Duplication of 3rd toe bone|Duplication of phalanx of the third toe|Partial/complete duplication of the phalanges of the 3rd toe Partial or complete duplication of phalanx of third toe. HP:0010366 Triangular shaped phalanges of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010366 UMLS:C4023879 Triangular shaped 3rd toe bones HP:0010365 Symphalangism affecting the phalanges of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010365 UMLS:C4023880 Fused bones of 3rd toe HP:0010364 Patchy sclerosis of 3rd toe phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010364 UMLS:C4021283 Uneven increase in bone density in 3rd toe bone|Patchy sclerosis of the phalanges of the 3rd toe Patchy (irregular) increase in bone density of one or more of the phalanges of the third toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. HP:0010363 Osteolytic defects of the phalanges of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010363 UMLS:C4021825 HP:0010362 Curved 3rd toe phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010362 UMLS:C4021284 Curved bones of 3rd toe|Curved phalanges of the 3rd toe A deviation from the normal straight form of one or more phalanges of the third toe. HP:0011690 Permanent junctional reciprocating tachycardia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011690 SNOMEDCT_US:233904005|UMLS:C0340483 An incessant orthodromic tachycardia with anterograde conduction over the atrioventricular node and by retrograde conduction via an accessory pathway usually located in the posteroseptal region with slow and decremental conduction. HP:0011691 Supraventricular tachycardia with a concealed accessory pathway on the left free wall biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011691 UMLS:C4023230 HP:0010361 Bullet-shaped 3rd toe phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010361 UMLS:C4021285 Bullet-shaped bones of 3rd toe|Bullet-shaped phalanges of the 3rd toe An abnormal morphology of one or more phalanges of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. HP:0010369 Abnormality of the middle phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010369 UMLS:C4023877 Abnormality of the middle bone of 3rd toe HP:0008037 Absent anterior chamber of the eye biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008037 UMLS:C0271004|SNOMEDCT_US:55457007|SNOMEDCT_US:404675003 Absence of the anterior chamber of the eye owing to a developmental defect. HP:0008036 obsolete Rod-cone dystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008036 HP:0008039 Subepithelial corneal opacities biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008039 UMLS:C1857307 HP:0008038 Aplastic/hypoplastic lacrimal glands biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008038 UMLS:C1835602 Absent/underdeveloped tear glands|Absent/underdeveloped lacrimal glands Absence or underdevelopment of the lacrimal gland. HP:0008033 obsolete Congenital exotropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008033 HP:0008035 Retinitis pigmentosa inversa biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008035 UMLS:C4021559 Central retinitis pigmentosa Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery). HP:0008034 Abnormal iris pigmentation biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0008034 UMLS:C1834387 Abnormal pigmentation of the iris. HP:0011681 Subarterial ventricular septal defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011681 Fyler:1330|UMLS:C3165130|SNOMEDCT_US:448876006 Doubly committed ventricular septal defect|Supracristal ventricular septal defect|Conal ventricular septal defect|Type 1 ventricular septal defect|Infundibular ventricular septal defect A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum. HP:0008051 obsolete Abnormality of the retinal pigment epithelium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008051 HP:0009382 Absent epiphyses of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009382 UMLS:C4024407 Absent end part of little finger bone|Absent end part of pinkie finger bone|Absent end part of pinky finger bone Absence of one or more epiphyses of the 5th finger. HP:0009381 Short finger biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009381 UMLS:C0239594|SNOMEDCT_US:249765007|UMLS:C1844548 Hypoplastic digits|Hypoplastic fingers|Hypoplastic/small fingers|Stubby finger|Stubby fingers|Short finger Abnormally short finger associated with developmental hypoplasia. HP:0011682 Perimembranous ventricular septal defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011682 SNOMEDCT_US:109428005|UMLS:C0344925|Fyler:1310 Perimembraneous ventricular septal defect|Conoventricular ventricular septal defect|Ventricular septal defect, perimembranous|Type 2 ventricular septal defect|Membranous ventricular septal defect|Paramembranous ventricular septal defect A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs. HP:0008050 Abnormality of the palpebral fissures biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008050 UMLS:C4024750 Abnormality of the opening between the eyelids|Malformation of the palpebral fissures|Deformity of the palpebral fissures|Abnormality of the palpebral fissures An anomaly of the space between the medial and lateral canthi of the two open eyelids. HP:0011683 Restrictive ventricular septal defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011683 UMLS:C0344924|SNOMEDCT_US:253551005 Any ventricular septal defect (VSD) that is small enough to restrict flow across it such that a pressure gradient exists between the two sides of the VSD. HP:0008053 Aplasia/Hypoplasia of the iris biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008053 UMLS:C4024748 Absent/small iris|Absent/underdeveloped iris Absence or underdevelopment of the iris. HP:0009384 Cone-shaped epiphyses of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009384 UMLS:C4024405 Cone-shaped end part of the pinky finger bones|Cone-shaped end part of the little finger bones|Cone-shaped end part of the pinkie finger bones A cone-shaped appearance of the epiphyses of the 5th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. HP:0008052 Retinal fold biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008052 UMLS:C0229197|SNOMEDCT_US:37480005 Retinal folds A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy. HP:0009383 Bracket epiphyses of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009383 UMLS:C4024406 Bracket shaped end part of pinky finger bone|Bracket shaped end part of little finger bone|Bracket shaped end part of pinkie finger bone 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. HP:0011684 Non-restrictive ventricular septal defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011684 UMLS:C1298817|SNOMEDCT_US:373131000 Any ventricular septal defect (VSD) that does not restrict flow across it sufficiently to generate a pressure gradient between the two sides of the VSD. HP:0011685 Infra-aortic superior vena cava biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011685 UMLS:C4023232 The superior vena cava passes below the aortic arch. HP:0011686 Abnormal coronary artery course biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011686 UMLS:C0345122|SNOMEDCT_US:253714001 Anomalous coronary artery course An abnormal path of a coronary artery. HP:0009380 Aplasia of the fingers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009380 SNOMEDCT_US:71358006|UMLS:C0728895 Absent fingers Aplasia of one or more fingers. HP:0011687 AV nodal tachycardia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011687 UMLS:C0857265 Atrioventricular nodal tachycardia|AV nodal tachycardia A type of supraventricular tachycardia that originates in the atrioventricular node. HP:0011688 Supraventricular tachycardia with an accessory connection mediated pathway biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011688 UMLS:C4021132 Supraventricular tachycardia with an accessory connexion mediated pathway|Atrioventricular re-entry tachycardia Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism. HP:0010357 Abnormality of the middle phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010357 UMLS:C4023884 Abnormality of the middle bone of the 2nd toe HP:0010356 Abnormality of the distal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010356 UMLS:C4023885 Abnormality of the outermost bone of the 2nd toe HP:0010355 Duplication of the phalanges of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010355 UMLS:C4021286 Duplication of the bones of the 2nd toe|Partial/complete duplication of the phalanges of the 2nd toe Partial or complete duplication of a phalanx of second toe. HP:0010354 Triangular shaped phalanges of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010354 UMLS:C4023886 Triangular shaped bone of 2nd toe|Triangular shaped bone of second toe HP:0010353 Symphalangism affecting the phalanges of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010353 UMLS:C4023887 Fused bones of 2nd toe Fusion of the interphalangeal joints of the 2nd toe. HP:0010352 Patchy sclerosis of 2nd toe phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010352 UMLS:C4021287 Patchy sclerosis of the phalanges of the 2nd toe|Uneven increase in bone density in 2nd toe bone Patchy (irregular) increase in bone density of one or more of the phalanges of the second toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. HP:0010351 Osteolytic defects of the phalanges of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010351 UMLS:C4023888 HP:0010350 Curved 2nd toe phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010350 UMLS:C4021288 Curved bones of the 2nd toe|Curved phalanges of the 2nd toe A deviation from the normal straight form of one or more phalanges of the second toe. HP:0011680 Single ventricle of indeterminate morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011680 UMLS:C4023233 HP:0010359 Aplasia/Hypoplasia of the phalanges of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010359 UMLS:C4023882 Absent/small bones of 3rd toe|Absent/underdeveloped bones of 3rd toe HP:0010358 Abnormality of the proximal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010358 UMLS:C4023883 Abnormality of the innermost bone of the 2nd toe HP:0011689 Supraventricular tachycardia with a concealed accessory connection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011689 UMLS:C4023231 Supraventricular tachycardia with a concealed accessory connexion Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed becasue it is not seen on the ECG during sinus rhythm. HP:0008048 Abnormality of the line of Schwalbe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008048 UMLS:C4021856 An abnormality of the line of Schwalbe. HP:0009379 Rhomboid or triangular shaped 5th finger distal phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009379 UMLS:C4024408 Rhomboid or triangular shaped little finger bone|Rhomboid or triangular shaped pinkie finger bone|Rhomboid or triangular shaped pinky finger bone Rhomboid or triangular shaped 5th (little) finger distal phalanx. HP:0009378 Triangular shaped phalanges of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009378 UMLS:C4024409 Triangular shaped pinkie finger bones|Triangular shaped little finger bones|Triangular shaped pinky finger bones Triangular shaped phalanges of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. HP:0008047 Abnormality of the vasculature of the eye biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008047 UMLS:C4024752 Abnormality of eye blood vessels HP:0008049 Abnormality of the extraocular muscles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008049 UMLS:C4024751 An abnormality of an extraocular muscle. HP:0009375 Bullet-shaped phalanges of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009375 UMLS:C4024411 Bullet-shaped little finger bones|Bullet-shaped pinkie finger bones|Bullet-shaped pinky finger bones A fifth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. HP:0009374 Broad phalanges of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009374 UMLS:C4024412 Broad pinkie finger bones|Broad little finger bones|Broad pinky finger bones Increased width of the phalanges of the 5th finger. HP:0008043 Retinal arteriolar constriction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008043 UMLS:C2176208 Retinal arteriolar narrowing|Constricted retinal arterioles|Narrow retinal arterioles Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina. HP:0009377 Patchy sclerosis of 5th finger phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009377 UMLS:C4021484 Uneven increase in bone density in pinky finger bone|Patchy sclerosis of the phalanges of the 5th finger|Uneven increase in bone density in little finger bone|Uneven increase in bone density in pinkie finger bone Uneven increase in bone density of one or more of the phalanges of the 5th finger. HP:0008046 Abnormal retinal vascular morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008046 UMLS:C4024753 Abnormality of the retinal vasculature|Abnormality of retina blood vessels A structural abnormality of retinal vasculature. HP:0009376 Aplasia/Hypoplasia of the phalanges of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009376 UMLS:C4024410 Absent/small pinky finger bones|Absent/small little finger bones|Absent/underdeveloped pinky finger bones|Absent/small pinkie finger bones Aplasia/Hypoplasia of the phalanges of the 5th finger. HP:0008045 Enlarged flash visual evoked potentials biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008045 UMLS:C4021558 High flash visual evoked potentials HP:0011670 Left superior vena cava draining to coronary sinus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011670 ICD-10:Q26.1|UMLS:C2677768 A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence. HP:0011671 Interrupted inferior vena cava with azygous continuation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011671 UMLS:C4023237|ICD-10:26.8 Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava. HP:0011672 Cardiac myxoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011672 UMLS:C1960546|NCIT:C6577|SNOMEDCT_US:426191007 A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origina and general project from the endocardium into a cardiac chamber. HP:0008020 Cone dystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008020 UMLS:C3665342|UMLS:C0730290 Progressive cone dystrophy|Progressive cone degeneration Inherited progressive cone degeneration. HP:0009351 Irregular epiphysis of the proximal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009351 UMLS:C4024418 Irregular end part of innermost long bone of the middle finger Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger. HP:0009350 Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009350 UMLS:C4024419 Fragmentation of end part of innermost long bone of the middle finger Fragmented appearance of the epiphysis of the proximal phalanx of the 3rd finger. HP:0011673 Cardiac hemangioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011673 UMLS:C1707298|NCIT:C3085 Abnormal proliferation of blood vessels within the cardiac cavities attached to the endocardium. HP:0011674 Cardiac teratoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011674 UMLS:C1112387|NCIT:C3403 A teratoma within the heart. Most commonly, these tumors are detected in the pericardial cavity attached to the pulmonary artery and aorta. The tumour size within the heart varies from 2 to 9 cm in diameter, and intrapericardial tumors as large as 15 cm have been reported. Intracardiac tumors arise from the atrial or ventricular wall as nodular masses protruding into the cardiac chambers. Cardiac and pericardial teratomas are easily detected in the fetus and neonate by two-dimensional echocardiography as heterogeneous and encapsulated cystic masses. Histologically, cardiac teratomas contain multiple immature elements including epithelium, neuroglial tissue, thyroid, pancreas, smooth and skeletal muscle, cartilage and bone. HP:0011675 Arrhythmia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011675 UMLS:C0264886|UMLS:C0855329|SNOMEDCT_US:698247007|UMLS:C1842820|UMLS:C0003811|MSH:D001145|MSH:C562490|SNOMEDCT_US:102594003|UMLS:C1832603|SNOMEDCT_US:44808001|UMLS:C0522055 Irregular heart beat|Cardiac arrhythmia|Arrhythmias|Cardiac arrhythmias|Irregular heartbeat|Cardiac rhythm disturbances|Heart rhythm disorders|Abnormal heart rate Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. HP:0011676 Tetralogy of Fallot with absent subarterial conus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011676 UMLS:C4023236 HP:0011677 Tetralogy of Fallot with atrioventricular canal defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011677 UMLS:C4023235 HP:0010345 Flexion contracture of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010345 UMLS:C4021290 Joint contractures of the 5th toe One or more bent (flexed) joints of the fifth toe that cannot be straightened actively or passively. HP:0010344 Deviation of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010344 UMLS:C4021291 Displacement of the 5th toe|Displacement of the little toe|Displacement of the pinkie toe|Displacement of the pinky toe HP:0010343 Aplasia/Hypoplasia of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010343 UMLS:C4023891 Absent/small pinky toe|Absent/small little toe|Absent/small pinkie toe|Absent/underdeveloped pinky toe HP:0010342 Abnormality of the phalanges of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010342 UMLS:C4023892 Abnormality of the pinky toe bones|Abnormality of the little toe bones|Abnormality of the pinkie toe bones HP:0010341 Abnormality of the epiphyses of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010341 UMLS:C4023893 Abnormality of the end part of the pinky toe bone|Abnormality of the end part of the little toe bone|Abnormality of the end part of the pinkie toe bone HP:0010340 Polydactyly affecting the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010340 UMLS:C4023894 HP:0008019 Superior lens subluxation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008019 UMLS:C2036843 Superior subluxated lens Partial dislocation of the lens in a superior direction. HP:0009349 Enlarged epiphysis of the proximal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009349 UMLS:C4021488 Large epiphysis of proximal middle-finger phalanx|Enlarged end part of innermost long bone of the middle 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. HP:0010349 Bullet-shaped 2nd toe phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010349 UMLS:C4021289 Bullet-shaped phalanges of the 2nd toe|Bullet-shaped bones of the 2nd toe An abnormal morphology of one or more phalanges of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. HP:0010348 Broad phalanges of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010348 UMLS:C4023889 Broad bones of the 2nd toe HP:0010347 Aplasia/Hypoplasia of the phalanges of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010347 UMLS:C4023890 Absent/underdeveloped bones of 2nd toe|Absent/small bones of 2nd toe HP:0011678 Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011678 UMLS:C4023234 A type of tetralogy of Fallot with pulmonary atresia in which all pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCA). HP:0009346 Absent epiphysis of the proximal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009346 UMLS:C4024422 Absent end part of innermost long bone of the middle finger Absence of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger. HP:0009345 Triangular epiphysis of the distal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009345 UMLS:C4021489 Delta-shaped epiphysis of the distal phalanx of the 3rd finger|Triangular end part of the outermost long bone of the middle finger A triangular appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. HP:0011679 Tetralogy of Fallot with pulmonary stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011679 SNOMEDCT_US:253512000|UMLS:C0344881 The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus. HP:0008014 Central fundal arteriolar microaneurysms biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008014 UMLS:C4024755 Microscopic aneurysms of the retinal arterioles near the central part of the fundus, visible as small round dark red dots on the retinal surface (not arising from visible vessels) that are by definition less than the diameter of the major optic veins as they cross the optic disc. HP:0009348 Cone-shaped epiphysis of the proximal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009348 UMLS:C4024420 Cone-shaped end part of the innermost bone of the middle finger A cone-shaped appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. HP:0008017 obsolete Depigmented lesions of the retinal pigment epithelium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008017 HP:0009347 Bracket epiphysis of the proximal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009347 UMLS:C4024421 Bracket shaped end part of innermost long bone of the middle finger An abnormality of the proximal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. HP:0009342 Pseudoepiphysis of the distal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009342 UMLS:C4024425 Pseudoepiphysis of the outermost bone of the middle finger A secondary ossification center in the distal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. HP:0008011 Peripheral opacification of the cornea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008011 UMLS:C0155100|SNOMEDCT_US:55713007 Peripheral corneal opacity Reduced transparency of the peripheral region of the cornea. HP:0009341 Ivory epiphysis of the distal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009341 UMLS:C4024426 Increased bone density of end part of the outermost middle finger bone Sclerosis of the epiphysis of the distal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. HP:0009344 Stippling of the epiphysis of the distal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009344 UMLS:C4024423 Speckled calcifications in end part of the outermost long bone of the middle finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 3rd finger. HP:0008012 obsolete Congenital myopia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008012 HP:0009343 Small epiphysis of the distal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009343 UMLS:C4024424 Small end part of the outermost long bone of the middle 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. HP:0011660 Anomalous origin of one pulmonary artery from ascending aorta biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011660 Fyler:550|Fyler:0550|UMLS:C4021134 Hemitruncus Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle. HP:0008031 Posterior Y-sutural cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008031 UMLS:C4021560 Posterior Y-sutural cataracts A type of sutural cataract in which the opacity follows the posterior Y suture. HP:0011661 Anomalous origin of left pulmonary artery from ascending aorta biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011661 SNOMEDCT_US:253637002|UMLS:C0345040 The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery. HP:0008030 Retinal arteritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008030 SNOMEDCT_US:11255009|UMLS:C0271069 HP:0011662 Tricuspid atresia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011662 ICD-10:Q22.4|SNOMEDCT_US:63042009|SNOMEDCT_US:253455004|UMLS:C0243002|EPCC:06.01.01|MSH:D018785|Fyler:400|Fyler:0400 Tricuspid valve atresia Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle. HP:0011663 Right ventricular cardiomyopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011663 UMLS:C2063326 Cardiomyopathy, esp. right ventricular|Cardiomyopathy, right ventricular Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease. HP:0011664 Left ventricular noncompaction cardiomyopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011664 UMLS:C4021133 Left ventricular non-compaction 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. HP:0011665 Takotsubo cardiomyopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011665 MSH:D054549|UMLS:C1739395|SNOMEDCT_US:441541008 Broken-heart syndrome Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation. HP:0011666 Absent right superior vena cava biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011666 UMLS:C0344656|SNOMEDCT_US:253308005 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. HP:0010335 Abnormality of the epiphyses of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010335 UMLS:C4023897 Abnormality of the end part of the 4th toe bone HP:0010334 Polydactyly affecting the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010334 UMLS:C4023898 HP:0010333 Flexion contracture of 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010333 UMLS:C4021294 Joint contractures of the 3rd toe One or more bent (flexed) joints of the third toe that cannot be straightened actively or passively. HP:0010332 Deviation of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010332 UMLS:C4021295 Displacement of the 3rd toe HP:0010331 Aplasia/Hypoplasia of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010331 UMLS:C1862698 Absent/hypoplastic third toe|Absent/underdeveloped 3rd toe|Absent/small 3rd toe HP:0010330 Abnormality of the phalanges of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010330 UMLS:C4023899 Abnormality of the bones of the 3rd toe HP:0010339 Flexion contracture of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010339 UMLS:C4021292 Joint contractures of the 4th toe One or more bent (flexed) joints of the fourth toe that cannot be straightened actively or passively. HP:0010338 Deviation of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010338 UMLS:C4021293 Displacement of the 4th toe HP:0010337 Aplasia/Hypoplasia of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010337 UMLS:C4023895 Absent/underdeveloped 4th toe|Absent/small 4th toe HP:0010336 Abnormality of the phalanges of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010336 UMLS:C4023896 HP:0011667 Bilateral superior vena cava with bridging vein biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011667 UMLS:C4023240 HP:0009357 Abnormality of the distal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009357 UMLS:C4021486 Abnormality of the outermost bone of the 3rd finger|Abnormality of terminal phalanx of middle-finger HP:0008026 Horizontal opticokinetic nystagmus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008026 UMLS:C4024754 HP:0009356 Triangular epiphysis of the proximal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009356 UMLS:C4021487 Triangular end part of innermost long bone of the middle finger|Delta-shaped epiphysis of the proximal phalanx of the 3rd finger A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. HP:0011668 Bilateral superior vena cava with no bridging vein biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011668 UMLS:C4023239 HP:0011669 Left superior vena cava draining directly to the left atrium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011669 UMLS:C4023238 A persistent left superior vena cava (PLSVC) that drains into the left atrium instead of the right atrium via the coronary sinus, resulting in a right to left sided shunt. HP:0008028 Cystoid macular degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008028 SNOMEDCT_US:14046000|UMLS:C0154850 Cystic macular degeneration A form of macular degeneration characterized by the presence of multiple cysts in the macula. HP:0009358 Abnormality of the proximal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009358 UMLS:C4021485 Abnormality of proximal middle-finger phalanx|Abnormal innermost bone of middle finger HP:0009353 Pseudoepiphysis of the proximal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009353 UMLS:C4024416 A secondary ossification center in the proximal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. HP:0009352 Ivory epiphysis of the proximal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009352 UMLS:C4024417 Increased bone density of end part of the innermost middle finger bone Sclerosis of the epiphysis of the proximal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. HP:0009355 Stippling of the epiphysis of the proximal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009355 UMLS:C4024414 Speckled calcifications in end part of innermost long bone of the middle finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 3rd finger. HP:0008024 obsolete Congenital nuclear cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008024 HP:0009354 Small epiphysis of the proximal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009354 UMLS:C4024415 Small end part of innermost long bone of the middle finger Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms. HP:0000918 Scapular exostoses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000918 UMLS:C1851415 Shoulder bone exostoes|Scapulae 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. HP:0000917 Superior pectus carinatum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000917 UMLS:C1864795 Pectus carinatum superiorly Pectus carinatum affecting primarily the superior part of the sternum. HP:0000919 Abnormality of the costochondral junction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000919 UMLS:C4021791 Costochondral juctions abnormal Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. HP:0000910 Wide-cupped costochondral junctions biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000910 UMLS:C1861213 HP:0000912 Sprengel anomaly biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000912 SNOMEDCT_US:79120002|MEDDRA:10010455|UMLS:C0152438|MSH:C535802 Sprengel deformity|High scapula|High shoulder blade|Congenital, upward displacement of the scapula A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other). HP:0000911 Flat glenoid fossa biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000911 UMLS:C1855177 Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus. HP:0000914 Shield chest biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000914 UMLS:C1834124|UMLS:C1839248 Broad chest|Shield chest A broad chest. HP:0000913 Posterior rib fusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000913 UMLS:C1842084 Complete or partial merging of the posterior part of adjacent ribs. HP:0000916 Broad clavicles biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000916 UMLS:C0426801|SNOMEDCT_US:249680009 Broad collarbone Increased width (cross-sectional diameter) of the clavicles. HP:0000915 Pectus excavatum of inferior sternum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000915 UMLS:C1864796 Pectus excavatum inferiorly Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum. HP:0012900 Myotonia of the face biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012900 UMLS:C4022686 Slowed relaxation of muscles in the face. HP:0012901 Myotonia of the jaw biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012901 UMLS:C4022685 Slowed relaxation of muscles in the jaw. HP:0012902 Myotonia of the lower limb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012902 UMLS:C4022684 Slowed relaxation of muscles in the leg. HP:0012903 Myotonia of the upper limb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012903 UMLS:C4022683 Slowed relaxation of muscles in the arm. HP:0012904 Cold-sensitive myotonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012904 UMLS:C4022682 An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold. HP:0012905 Euryblepharon biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012905 UMLS:C1303001|SNOMEDCT_US:400954002|UMLS:C4280305 Kabuki syndrome eyelids Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening. HP:0000929 Abnormal skull morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000929 UMLS:C0235942 Abnormality of the skull|Abnormality of the skull bones An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones. HP:0000921 Missing ribs biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000921 SNOMEDCT_US:249695006|UMLS:C0426816 Decreased rib number|Absent ribs|Missing ribs A developmental anomaly with absence of one or more ribs. HP:0000920 Enlargement of the costochondral junction biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000920 UMLS:C1857180 Wide costochondral junctions|Costochondral thickening|Enlarged costochondral junctions|Widened costochondral junction|Prominent costochondral junction Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. HP:0000923 Beaded ribs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000923 UMLS:C0426824 The presence of a row of multiple rounded expansions (beadlike prominences) at the junction of a rib and its cartilage. HP:0000922 Posterior rib cupping biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000922 UMLS:C1837483 Anterior and posterior rib cupping Wide, concave posterior rib end. HP:0000925 Abnormality of the vertebral column biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000925 UMLS:C4021789|UMLS:C4020882 Abnormal spine|Abnormality of the vertebral column|Abnormality of the spine|Abnormality of the backbone|Abnormal vertebral column Any abnormality of the vertebral column. HP:0000924 Abnormality of the skeletal system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000924 UMLS:C4021790 Skeletal anomalies|Skeletal abnormalities|Abnormality of the skeletal system An abnormality of the skeletal system. HP:0000927 Abnormality of skeletal maturation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000927 UMLS:C4025818 Abnormality of skeletal maturation The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation. HP:0000926 Platyspondyly biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000926 UMLS:C1844704 Flattened vertebrae|Flat vertebral bodies|Flattened vertebral bodies A flattened vertebral body shape with reduced distance between the vertebral endplates. HP:0000907 Anterior rib cupping biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000907 UMLS:C1846154 Anteriorly splayed ribs|Anterior cupping of ribs Wide, concave anterior rib end. HP:0000900 Thickened ribs biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000900 SNOMEDCT_US:249699000|UMLS:C0426820 Increased thickness (diameter) of ribs. HP:0000902 Rib fusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000902 UMLS:C1844749 Rib fusion|Fused ribs Complete or partial merging of adjacent ribs. HP:0000905 Progressive clavicular acroosteolysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000905 UMLS:C1837757 Progressive acroosteolysis of the clavicle Progressive bone resorption in the distal part of the clavicle. HP:0000904 Flaring of rib cage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000904 UMLS:C1854780 Flaring of rib cage|Anterior flaring of ribs The presence of wide, concave anterior rib ends. HP:0011610 Type IV truncus arteriosus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011610 UMLS:C4021135|Fyler:0540|Fyler:540 Persistent truncus arteriosus type IV|Type 4 truncus arteriosus Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present. HP:0011611 Interrupted aortic arch biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011611 Fyler:1250|SNOMEDCT_US:218728005|Fyler:1241|UMLS:C0152419 Atretic transverse aortic arch|Aortic arch obstruction Non-continuity of the arch of aorta with an atretic point or absent segment. HP:0000954 Single transverse palmar crease biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000954 SNOMEDCT_US:248409006|UMLS:C0424731 Single palmar crease|Simian crease|Single flexion crease|Simian creases|Single palmar creases|Single transverse palmar creases|Simian line|Transverse palmar crease The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. HP:0000953 Hyperpigmentation of the skin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000953 UMLS:C0162834|MSH:D017495|SNOMEDCT_US:4830009|SNOMEDCT_US:49765009 Melanoderma|Skin hyperpigmentation|Increased skin pigmentation|Hyperpigmented lesion|Melanodermia|Cutaneous hyperpigmentation|Patchy darkened skin A darkening of the skin related to an increase in melanin production and deposition. HP:0000956 Acanthosis nigricans biolink:PhenotypicFeature hp secondary_consequence http://purl.obolibrary.org/obo/HP_0000956 MSH:D000052|UMLS:C0000889|SNOMEDCT_US:72129000|SNOMEDCT_US:402599005 Keratosis nigricans|Darkened and thickened skin A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck. HP:0000958 Dry skin biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000958 SNOMEDCT_US:16386004|MEDDRA:10048222|UMLS:C0151908|UMLS:C0259817 Dry skin|Xerosis Skin characterized by the lack of natural or normal moisture. HP:0000957 Cafe-au-lait spot biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000957 UMLS:C0221263|SNOMEDCT_US:51089004|UMLS:C0265974|MSH:D019080|SNOMEDCT_US:201281002 Cafe-au-lait macule|Flat light-brown mark on skin|Cafe au lait spots|Cafe-au-lait spots|Birthmark|Cafe-au-lait macules Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children. HP:0000952 Jaundice biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000952 SNOMEDCT_US:18165001|MSH:D007565|UMLS:C0022346 Jaundice|Yellow skin|Icterus|Yellowing of the skin Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. HP:0000951 Abnormality of the skin biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000951 UMLS:C0037274|SNOMEDCT_US:95320005|SNOMEDCT_US:199879009|MSH:D012871|MSH:D012868|UMLS:C0037268 dermopathy|Abnormality of the skin|dermatopathy|Skin abnormality An abnormality of the skin. HP:0011612 Interrupted aortic arch type A biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011612 SNOMEDCT_US:253681005|UMLS:C0345092 Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus. HP:0011613 Interrupted aortic arch type B biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011613 SNOMEDCT_US:253682003|UMLS:C0345093|Fyler:1252 Interrupted aortic arch, type b Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries. HP:0011614 Interrupted aortic arch type C biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011614 SNOMEDCT_US:253683008|UMLS:C0345094 Non-continuity of the aortic arch with an atretic point or absent segment between the innominate and left carotid arteries. HP:0011615 Abnormal pulmonary situs morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011615 UMLS:C4023271 Abnormality of pulmonary situs An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, which is defined by characteristics such as the number of lobes per lung and the relationship of the pulmonary arteries to their bronchi. HP:0011616 Pulmonary situs inversus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011616 UMLS:C4023270 Mirror image arrangement of the mainstem bronchi with the right pulmonary artery posterior to the right upper lobe bronchus and the left pulmonary artery anterior to the left upper lobe bronchus. HP:0011617 Pulmonary situs ambiguus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011617 UMLS:C4023269 An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same. HP:0011618 Pulmonary situs ambiguus with bilateral morphologic right lungs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011618 UMLS:C4023268 An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a right lung. HP:0011619 Pulmonary situs ambiguus with bilateral morphologic left lungs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011619 UMLS:C4023267 An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a left lung. HP:0011600 Abnormal direction of ventricular apex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011600 UMLS:C4023275 Abnormal plane of direction of the heart from the base to the apex. Left sided is normal. HP:0000965 Cutis marmorata biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000965 UMLS:C0263401 A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather. HP:0000964 Eczema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000964 UMLS:C0013595|SNOMEDCT_US:43116000|SNOMEDCT_US:281104002|MSH:D004485 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. HP:0000967 Petechiae biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000967 MSH:D011693|SNOMEDCT_US:271813007|SNOMEDCT_US:50091001|MEDDRA:10034754|UMLS:C0031256 Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae. HP:0000966 Hypohidrosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000966 MSH:D007007|SNOMEDCT_US:45004005|UMLS:C0020620|MEDDRA:10021013 Oligohidrosis|Decreased ability to sweat|Inadequate sweating|Decreased sweating|Sweating, decreased Abnormally diminished capacity to sweat. HP:0000969 Edema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000969 SNOMEDCT_US:423666004|SNOMEDCT_US:79654002|UMLS:C0013604|SNOMEDCT_US:267038008|MSH:D004487|SNOMEDCT_US:20741006 Dropsy|Oedema|Hydrops|Fluid retention|Water retention An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. HP:0000968 Ectodermal dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000968 UMLS:C0013575|MSH:D004476|SNOMEDCT_US:8654005|SNOMEDCT_US:254154003 Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. HP:0011609 Type III truncus arteriosus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011609 Fyler:0530|Fyler:530|UMLS:C4021136 Persistent truncus arteriosus type III|Type 3 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. HP:0000961 Cyanosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000961 SNOMEDCT_US:3415004|MSH:D003490|SNOMEDCT_US:119419001|UMLS:C0010520 Blue discoloration of the skin Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood. HP:0000960 Sacral dimple biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000960 SNOMEDCT_US:249729002|UMLS:C0426848|SNOMEDCT_US:311897005 Spinal dimple|Pilonidal dimple A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft. HP:0000963 Thin skin biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000963 SNOMEDCT_US:277797007|UMLS:C0423757 Thin skin Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. HP:0000962 Hyperkeratosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000962 SNOMEDCT_US:399955009|UMLS:C0870082|SNOMEDCT_US:26996000|SNOMEDCT_US:396228006|MEDDRA:10020649 Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum. HP:0011601 Rightward direction of ventricular apex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011601 UMLS:C4023274 Abnormal plane of direction of the heart from the base to the apex towards the right. Left sided is normal. HP:0011602 Midline direction of ventricular apex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011602 UMLS:C4023273 Abnormal plane of direction of the heart from the base to the apex in the midline. Left sided is normal. HP:0011603 Congenital malformation of the great arteries biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011603 UMLS:C0478012 Defect or defects of the morphogenesis of the aorta and pulmonary arteries. HP:0011604 Aortopulmonary window biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011604 UMLS:C0003516|SNOMEDCT_US:17024001|Fyler:0560|Fyler:560|MSH:D001028 A congenital anomaly with an abnormal connection between the aorta and the main pulmonary artery resulting in an aortopulmonary shunt. HP:0011605 Congenitally corrected transposition of the great arteries with ventricular septal defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011605 UMLS:C4023272 A congenitally corrected transposition of the great arteries with a ventricular septal defect: a hole between the two bottom chambers (ventricles) of the heart. The ventricular septal defect is centered around the most superior aspect of the ventricular septum. HP:0011606 obsolete Transposition of the great arteries with intact ventricular septum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011606 HP:0011607 obsolete Transposition of the great arteries with ventricular septal defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011607 HP:0011608 Type II truncus arteriosus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011608 Fyler:520|Fyler:0520|UMLS:C4021137 Type 2 truncus arteriosus|Persistent truncus arteriosus type II Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with each pulmonary artery arising separate from each other on the posterior or lateral aspect of the truncus. HP:0000939 Osteoporosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000939 MSH:D010024|UMLS:C0029456|SNOMEDCT_US:64859006 Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). HP:0000932 Abnormal posterior cranial fossa morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000932 UMLS:C3280768 Abnormality of the posterior cranial fossa|Abnormality of the posterior fossa|Posterior fossa anomaly An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum. HP:0000931 Thinning and bulging of the posterior fossa bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000931 UMLS:C4021788|UMLS:C4280608 Thinning and bulging of posterior fossa bones|Thinning and bulging of posterior skull bones|Thinning and bulging of occipital bone of skull HP:0000934 Chondrocalcinosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000934 SNOMEDCT_US:239832006|UMLS:C0553730|SNOMEDCT_US:201637001|MSH:D002805|SNOMEDCT_US:239838005 Calcium deposits in joints Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) . HP:0000933 Posterior fossa cyst at the fourth ventricle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000933 UMLS:C4025816 HP:0000935 Thickened cortex of long bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000935 UMLS:C1840418 Broad cortex of long bones|Thickened cortices of long bones|Cortical thickening of the long bones Abnormal thickening of the cortex of long bones. HP:0000938 Osteopenia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000938 SNOMEDCT_US:312894000|SNOMEDCT_US:78441005|UMLS:C0747078|UMLS:C0029453|MSH:D001851 Generalized osteopenia Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. HP:0000930 Elevated imprint of the transverse sinuses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000930 UMLS:C4025817 Thinning and bulging of posterior skull bones over the transverse sinuses|Thinning and bulging of occipital bone over the transverse sinuses|Elevated imprint of occipital bone over the transverse sinuses|Elevated imprint of posterior skull bones over the transverse sinuses HP:0000943 Dysostosis multiplex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000943 UMLS:C0086795|SNOMEDCT_US:254069004|MSH:D008059|SNOMEDCT_US:65327002 HP:0000944 Abnormality of the metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000944 UMLS:C4025814 Abnormality of the wide portion of a long bone 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. HP:0000947 Dumbbell-shaped long bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000947 UMLS:C2749582 Dumbbell-shaped long bone|Dumbbell widening of long bone metaphyses 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. HP:0000946 Hypoplastic ilia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000946 UMLS:C4280607|UMLS:C1861218 Short and small iliac bones|Small wings of the pelvic girdle|Small iliac bones Underdevelopment of the ilium. HP:0000941 Short diaphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000941 UMLS:C4025815 Short shaft of long bone HP:0000940 Abnormal diaphysis morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000940 UMLS:C4021787 Abnormality of shaft of long bone of the limbs|Abnormality of the diaphyses|Anomaly of the limb diaphyses|Abnormal shape of shaft of long bone|Abnormality involving the diaphyses of the limbs|Anomaly of the limb diaphyses morphology An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone. HP:0009294 Absent middle phalanx of 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009294 UMLS:C4021498 Aplasia of the middle phalanx of the 4th finger|Absent middle bone of 4th finger Absence of the middle phalanx of the ring (4th) finger. HP:0010282 Thin lower lip vermilion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010282 UMLS:C2053440 Thin lower lip|Decreased height of lower lip vermilion|Decreased volume of lower lip|Thin vermilion border of lower lip|Thin red part of the lower lip|Decreased volume of lower lip vermilion Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective). HP:0009293 Broad middle phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009293 UMLS:C4024463 Broad middle bone of the 4th finger Increased width of the middle phalanx of the 4th finger. HP:0009296 Bullet-shaped middle phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009296 UMLS:C4024462 Bullet-shaped middle bone 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. HP:0010281 Cleft lower lip biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010281 UMLS:C1856026 Lower labial cleft|Cleft of the lower lip|Cleft lower lip A gap in the lower lip. HP:0010280 Stomatitis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010280 UMLS:C0149704|SNOMEDCT_US:20607006|MSH:D013280|SNOMEDCT_US:61170000|UMLS:C0038362 Gingivostomatitis|Inflammation of the mouth Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth. HP:0009295 Short middle phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009295 UMLS:C4021497 Short middle phalanx of ring finger|Hypoplastic/small middle phalanx of ring finger|Hypoplastic/small middle phalanx of the 4th finger|Short middle bone of 4th finger Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger. HP:0009290 Short distal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009290 UMLS:C4021499 Short distal phalanx of the fourth finger|Hypoplastic/small distal phalanx of the 4th finger|Short outermost bone of ring finger Hypoplastic/small distal phalanx of the fourth finger. HP:0009292 Broad distal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009292 UMLS:C4024464 Wide outermost bone of ring finger|Broad outermost bone of ring finger Increased width of the distal phalanx of the 4th finger. HP:0009291 Aplasia of the distal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009291 UMLS:C4024465 Absent outermost bone of ring finger Absence of the distal phalanx of the ring (4th) finger. HP:0010289 Cleft of alveolar ridge of maxilla biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010289 UMLS:C2919907|UMLS:C1398533|UMLS:C4280386|SNOMEDCT_US:445306000 Notch of alveolar ridge|Notch of gum ridge|Cleft of alveolar process|Alveolar ridge cleft|Notch of alveolar process|Cleft of gum ridge 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. HP:0010288 Abnormality of the sublingual glands biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010288 UMLS:C4023919 Any abnormality of the sublingual glands, which are the salivary glands that are located beneath the floor of the mouth anterior to the submandibular glands. HP:0010287 Abnormality of the submandibular glands biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010287 UMLS:C4023920 Abnormality of the submaxillary glands Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles. HP:0010286 Abnormal salivary gland morphology biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010286 MSH:D012466|UMLS:C0036093|SNOMEDCT_US:10890000|UMLS:C0149772 Salivary gland disease|Abnormality of the salivary glands Any abnormality of the salivary glands, the exocrine glands that produce saliva. HP:0010285 Oral synechia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010285 UMLS:C4023921 Synechiae of the mouth|Oral fibrous bands Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges. HP:0010284 Intra-oral hyperpigmentation biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010284 UMLS:C0877541|UMLS:C4280389|UMLS:C4280388|UMLS:C4280387|UMLS:C0399483|SNOMEDCT_US:235038002 Hyperpigmentation of oral mucosa|Gingival melanin pigmentation|Gingival hyperpigmentation|Dark color of gums|Pigmented gums|Oral racial pigmentation|Oral mucosa melanin pigmentation Increased pigmentation, either focal or generalized, of the mucosa of the mouth. HP:0009287 Curved middle phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009287 UMLS:C4024468 Curved middle ring finger bone Curved appearance of the middle phalanx of the 4th (ring) finger. HP:0009286 Curved distal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009286 UMLS:C4024469 Curved outermost ring finger bone Curved appearance of the distal phalanx of the 4th (ring) finger. HP:0009289 Aplasia/Hypoplasia of the distal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009289 UMLS:C4024466 Absent/underdeveloped outermost ring finger bone|Absent/small outermost ring finger bone HP:0009288 Curved proximal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009288 UMLS:C4024467 Curved innermost ring finger bone HP:0010272 Fragmentation of the epiphyses of the proximal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010272 UMLS:C4023929 Fragmentation of the end part of the innermost hand bones HP:0010271 Enlarged epiphyses of the proximal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010271 UMLS:C4023930 Enlarged end part of the innermost hand bones HP:0010270 Cone-shaped epiphyses of the proximal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010270 UMLS:C4023931 Cone-shaped end part of the innermost hand bones HP:0010278 Triangular epiphyses of the proximal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010278 UMLS:C4023923 Triangular end part of the innermost hand bones HP:0010277 Stippling of the epiphyses of the proximal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010277 UMLS:C4023924 Speckled calcifications in the end part of the innermost hand bones HP:0010276 Small epiphyses of the proximal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010276 UMLS:C4023925 Small end part of the innermost hand bones HP:0010275 Pseudoepiphyses of the proximal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010275 UMLS:C4023926 A secondary ossification center in the proximal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. HP:0010274 Ivory epiphyses of the proximal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010274 UMLS:C4023927 Increased bone density of end part of the innermost hand bones Epiphyses of the proximal phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. HP:0010273 Irregular epiphyses of the proximal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010273 UMLS:C4023928 Irregular end part of the innermost hand bones HP:0009298 Aplasia of the proximal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009298 UMLS:C4024460 Absent innermost ring finger bone Absence of the proximal phalanx of the ring (4th) finger. HP:0009297 Osteolytic defects of the middle phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009297 UMLS:C4024461 Dissolution or degeneration of bone tissue of the middle phalanx of the 4th finger. HP:0009299 Aplasia/Hypoplasia of the middle phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009299 UMLS:C4024459 Absent/underdeveloped middle ring finger bone|Absent/small middle ring finger bone HP:0010261 Fragmentation of the epiphyses of the middle phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010261 UMLS:C4023940 Fragmentation of the end part of the middle hand bones Fragmented appearance of the epiphyses of the middle phalanges of the hand. HP:0009272 Aplasia/Hypoplasia of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009272 UMLS:C4024478 Absent/small ring finger bone|Absent/underdeveloped ring finger bone A small/hypoplastic or absent/aplastic 4th (ring) finger. HP:0011593 Left aortic arch with retroesophageal diverticulum of Kommerell biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011593 UMLS:C0265885|SNOMEDCT_US:74561007 Kommerell diverticulum A patent ductus arteriosus or ductal ligament completes the ring. HP:0011594 Right aortic arch with retroesophageal diverticulum of Kommerell biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011594 UMLS:C4023279 Aortic arch crosses the right mainstem bronchus. The left carotid artery is the first branch, right carotid artery the second branch and right subclavian artery as the third branch. HP:0010260 Enlarged epiphyses of the middle phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010260 UMLS:C4023941 Enlarged end part of the middle hand bones HP:0009271 Triangular epiphysis of the proximal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009271 UMLS:C4021505 Triangular end part of the innermost bone of ring finger|Delta-shaped epiphysis of the proximal phalanx of the 4th finger A triangular appearance of the epiphysis of the proximal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. HP:0011595 Left aortic arch with retroesophageal right subclavian artery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011595 UMLS:C4023278 Aortic arch crosses the left mainstem bronchus. The first branch is the right carotid artery, the second branch is the left carotid artery, the third branch is the subclavian artery, the fourth branch is the right subclavian artery arising from the posteromedial aspect of the distal aortic arch and continuing posterior to the esophagus to the right hand side of the body. HP:0009274 Joint contracture of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009274 UMLS:C4021504 Joint contractures of the fourth finger Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and/or proximal interphalangeal joints are affected. HP:0009273 Deviation of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009273 UMLS:C4024477 Deviation of the ring finger Displacement of the 4th finger from its normal position. HP:0011596 Left aortic arch with right descending aorta and right ductus arteriosus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011596 UMLS:C4023277 The ring may be completed by the ductal ligament. HP:0011597 Right aortic arch with left descending aorta and left ductus arteriosus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011597 UMLS:C4023276 HP:0011598 Right aortic arch with retroesophageal left subclavian artery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011598 UMLS:C4021140 Right aortic arch with anomalous left subclavian artery|Right aortic arch with aberrant left subclavian artery HP:0011599 Mesocardia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011599 SNOMEDCT_US:16567006|UMLS:C0265865|Fyler:140|Fyler:0140 Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane. HP:0009270 Stippling of the epiphysis of the proximal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009270 UMLS:C4024479 Speckled calcifications in end part of the innermost bone of ring finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 4th finger. HP:0010269 Bracket epiphyses of the proximal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010269 UMLS:C4023932 Bracket shaped end part of the innermost hand bones 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. HP:0010268 Absent epiphyses of the proximal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010268 UMLS:C4023933 Absent end part of the innermost hand bones HP:0010267 Triangular epiphyses of the middle phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010267 UMLS:C4023934 Triangular end part of the middle hand bones HP:0010266 Stippling of the epiphyses of the middle phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010266 UMLS:C4023935 Speckled calcifications in the end part of the middle hand bones HP:0010265 Small epiphyses of the middle phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010265 UMLS:C4023936 Small end part of the middle hand bones HP:0011590 Double aortic arch biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011590 UMLS:C0265883|SNOMEDCT_US:10451007|Fyler:2761 A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor). HP:0010264 Pseudoepiphyses of the middle phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010264 UMLS:C4023937 A secondary ossification center in the middle phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. HP:0010263 Ivory epiphyses of the middle phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010263 UMLS:C4023938 Increased bone density of end part of the middle hand bones Epiphyses of the middle phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. HP:0011591 Left aortic arch with cervical origin of the right subclavian artery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011591 UMLS:C4023281 HP:0011592 Left aortic arch with isolated subclavian artery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011592 UMLS:C4023280 The subclavian artery arises from ductus arteriosus. While the ductus arteriosus is patent its blood supply comes from the ductus, hence from the pulmonary artery. After it closes, the blood supply is retrogradely from the vertebral artery via the circle of Willis. HP:0010262 Irregular epiphyses of the middle phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010262 UMLS:C4023939 Irregular end part of middle hand bones HP:0009269 Small epiphysis of the proximal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009269 UMLS:C4024480 Small end part of the innermost bone of the ring 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. HP:0009268 Pseudoepiphysis of the proximal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009268 UMLS:C4024481 A secondary ossification center in the proximal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. HP:0009265 Fragmentation of the epiphysis of the proximal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009265 UMLS:C4024484 Fragmentation of end part of the innermost bone of the ring finger Fragmented appearance of the epiphysis of the proximal phalanx of the 4th finger. HP:0009264 Enlarged epiphysis of the proximal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009264 UMLS:C4024485 Enlarged end part of the innermost bone of the ring finger Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms. HP:0009267 Ivory epiphysis of the proximal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009267 UMLS:C4024482 Increased bone density of end part of the innermost ring finger bone Sclerosis of the epiphysis of the proximal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. HP:0009266 Irregular epiphysis of the proximal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009266 UMLS:C4024483 Irregular end part of the innermost bone of the ring finger Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 4th finger. HP:0009283 Abnormality of the middle phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009283 UMLS:C4021501 Abnormal middle bone of ring finger|Abnormality of the middle phalanx of the ring finger HP:0011582 Abdominal ectopia cordis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011582 UMLS:C4023287 Displacement of the heart outside the thoracic cavity and into the abdomen. HP:0010250 Fragmentation of the epiphyses of the distal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010250 UMLS:C4023949 Fragmentation of the end part of the outermost hand bones HP:0011583 Cervical ectopia cordis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011583 UMLS:C4023286 A type of ectopia cordis with the heart partially in the cervical region and without a defect of the sternum. HP:0009282 Abnormality of the distal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009282 UMLS:C4024471 Abnormality of the outermost bone of ring finger HP:0009285 Curved phalanges of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009285 UMLS:C4024470 Curved ring finger bone Curved appearance of the phalanges of the 4th (ring) finger. HP:0011584 Thoracocervical ectopia cordis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011584 UMLS:C4023285 A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum. HP:0011585 Thoracic ectopia cordis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011585 UMLS:C4023284 Congenital malformation of the thoracic wall with partial or total displacement of the heart outside the thoracic cavity. This feature is associated with sternal cleft or absence of the sternum. HP:0009284 Abnormality of the proximal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009284 UMLS:C4021500 Abnormal innermost bone of ring finger|Abnormality of the proximal phalanx of the ring finger HP:0011586 Thoracoabdominal ectopia cordis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011586 UMLS:C4023283 Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and displacement partially into the abdominal cavity. HP:0011587 Abnormal branching pattern of the aortic arch biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011587 UMLS:C4023282 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. HP:0009281 Aplasia of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009281 UMLS:C4024472 Absent ring finger Absent 4th finger. HP:0011588 Cervical aortic arch biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011588 SNOMEDCT_US:253657003|UMLS:C0345065 The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta. HP:0009280 Short 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009280 UMLS:C4021502 Hypoplastic/small 4th finger|Short ring finger Hypoplasia (congenital reduction in size) of the fourth finger, also known as the ring finger. HP:0011589 Common origin of the right brachiocephalic artery and left common carotid artery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011589 UMLS:C3532020|SNOMEDCT_US:460890003|UMLS:C4020746|UMLS:C4021141 Bovine arch|Common brachiocephalic trunk|Ovine arch The left common carotid artery has a common origin with the innominate artery. HP:0010258 Bracket epiphyses of the middle phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010258 UMLS:C4023942 Bracket shaped end part of the middle hand bones An abnormality of the middle phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. HP:0010257 Absent epiphyses of the middle phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010257 UMLS:C4023943 Absent end part of the middle hand bones HP:0010256 Triangular epiphyses of the distal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010256 UMLS:C4023944 Triangular end part of the outermost hand bones HP:0010255 Stippling of the epiphyses of the distal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010255 UMLS:C4023945 Speckled calcifications in the end part of the outermost hand bones HP:0010254 Small epiphyses of the distal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010254 UMLS:C4023946 Small end part of the outermost hand bones HP:0010253 Pseudoepiphyses of the distal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010253 UMLS:C4023947 A secondary ossification center in the distal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. HP:0010252 Ivory epiphyses of the distal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010252 UMLS:C4021301 Increased bone density of end part of the outermost hand bones|Eburnated epiphyses of distal phalanges Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. HP:0011580 Short chordae tendineae of the mitral valve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011580 UMLS:C4023288 Abnormally short chordae tendineae of the mitral valve. HP:0011581 Double outlet left ventricle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011581 Fyler:650|SNOMEDCT_US:7368005|Fyler:0650|UMLS:C0265809|ICD-10:Q20.2 A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle. HP:0010251 Irregular epiphyses of the distal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010251 UMLS:C4023948 Irregular end part of the outermost hand bones HP:0010259 Cone-shaped epiphyses of the middle phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010259 UMLS:C1860828 Cone-shaped end part of the middle hand bones|Cone-shaped epiphyses of middle phalanges HP:0009279 Radial deviation of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009279 UMLS:C4024473 Radial deviation of the ring finger Displacement of the 4th finger towards the radial side (i.e., towards the thumb). HP:0009276 Contracture of the proximal interphalangeal joint of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009276 UMLS:C4021503 Camptodactyly of the 4th finger|4th finger camptodactyly|Camptodactyly of the ring finger Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. HP:0009275 Contracture of the distal interphalangeal joint of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009275 UMLS:C4024476 Chronic loss of joint motion of the distal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. HP:0009278 Ulnar deviation of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009278 UMLS:C4024474 Ulnar deviation of the ring finger Displacement of the 4th finger towards the ulnar side (i.e., towards the ring finger). HP:0009277 Contracture of the metacarpophalangeal joint of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009277 UMLS:C4024475 Chronic loss of joint motion of the metacarpophalangeal joint of the 4th finger due to structural changes in non-bony tissue. HP:0010294 Palate fistula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010294 UMLS:C4280385|UMLS:C2032780 Palatal hole|Palatal perforation|Hole in roof of mouth A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate. HP:0010293 Aplasia/Hypoplasia of the uvula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010293 UMLS:C4023917 Aplasia/hypoplasia of palatine uvula Underdevelopment or absence of the uvula. HP:0010292 Absent uvula biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010292 SNOMEDCT_US:25148007|UMLS:C0266121 Missing uvula|Uvula aplasia|Absent palatine uvula|Congenital absence of uvula|Agenesis of uvula Lack of the uvula. HP:0010291 Prominent palatine ridges biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010291 UMLS:C4021300 Large lateral palatal ridges|Large lateral palatal folds|Prominent lateral palatal folds|Prominent palatine folds|Prominent lateral palatal ridges Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge. HP:0010290 Short hard palate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010290 UMLS:C1398301|UMLS:C4023918|UMLS:C4020772 Short palate|Hypoplastic palate|Decreased length of hard palate Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective). HP:0010299 Abnormality of dentin biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010299 UMLS:C4021299 Abnormality of dentine|Abnormality of dentin|Abnormal dentin Any abnormality of dentin. HP:0010298 Smooth tongue biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010298 SNOMEDCT_US:9491003|UMLS:C4280381|UMLS:C0155964|UMLS:C4280383|UMLS:C4280382 Atrophy of tongue surface|Smooth surface of tongue|Atrophy of dorsum of tongue|Smooth lingual surface|Smooth dorsum of tongue|Atrophy of lingual surface|Smooth tongue Glossy appearance of the entire tongue surface. HP:0010297 Bifid tongue biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010297 SNOMEDCT_US:84557007|UMLS:C4255098|UMLS:C0266111 Snake tongue|Forked tongue|Bifurcated tongue|Cleft tongue|Bilobed tongue|Split tongue Tongue with a median apical indentation or fork. HP:0010296 Ankyloglossia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010296 SNOMEDCT_US:67787004|MSH:D000072676|UMLS:C0152415 Tongue tie|Tongue tied Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue. HP:0010295 Aplasia/Hypoplasia of the tongue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010295 UMLS:C4023916|UMLS:C4280384 Lingual aplasia/hypoplasia Absence or underdevelopment of the tongue. HP:0007270 Atypical absence seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007270 UMLS:C0595948|SNOMEDCT_US:23374007 Atypical absence seizures|Atypical petit mal seizures|Atypical absence An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity. HP:0007271 Occipital myelomeningocele biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007271 UMLS:C4024912 HP:0007272 Progressive psychomotor deterioration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007272 UMLS:C1856565 Progressive mental and motor deterioration HP:0033565 Anti-epidermal transglutaminase antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033565 Anti-eTG antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against epidermal transglutaminase. HP:0032233 Increased circulating creatine kinase BB isoform biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032233 Increased circulating CK BB isoform An increased concentration of the BB isoform of creatine kinase in the blood circulation. HP:0033564 Stasis dermatitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033564 Venous eczema|Varicose eczema Stasis dermatitis commonly occurs in older age. It is caused by venous hypertension resulting from retrograde flow due to incompetent venous valves, valve destruction, or obstruction of the venous system. Further tissue changes arise from an inflammatory process mediated by metalloproteinases, which are up-regulated by ferric ion from extravasated red blood cells. Stasis dermatitis presents initially as poorly demarcated erythematous plaques of the lower legs bilaterally, classically involving the medial malleolus. HP:0032234 Increased circulating creatine kinase MM isoform biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032234 Increased circulating CK MM isoform An increased concentration of the MM isoform of creatine kinase in the blood circulation. HP:0032235 Anti-La/SS-B antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032235 The presence of autoantibodies in the blood circulation that react against La/SSB autoantigens. HP:0033567 Right axis deviation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033567 RAD|Electrical right axis deviation A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between +90 degrees and 180 degrees, or beyond +100 degrees if the adult range is used. HP:0032236 Increased circulating immature neutrophil count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032236 An abnormally increased number of immature neutrophils in the peripheral blood circulation. HP:0033566 Abnormal ventricular axis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033566 Abnormal QRS axis Any deviation from the normal direction of the ventricular axis. The left ventricle makes up most of the heart muscle under normal circumstances and therefore generates the most electrical force visible on the EKG. The normal ventricular axis is directed downward and slightly towards the left. The ventricular axis can be determined by analyzing the QRS complex, which represents ventricular depolarization. HP:0033561 Anti-bactericidal/permeability-increasing protein antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033561 Anti-BPI antibody positivity The presence of autoantibodies in the blood circulation that react against bactericidal/permeability-increasing protein (BPI). BPI is an endotoxin-binding host protein with important antibacterial effects against Gram-negative bacteria, such as Pseudomonas aeruginosa. BPI is a 55 kDalton protein that is most abundant in the azurophilic granules of neutrophils. BPI also acts as a target antigen for antineutrophil cytoplasmic autoantibodies. HP:0033560 Anti-PM-Scl antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033560 Anti-PM-Scl antibodies target components of RNA-processing exosome complex in the nucleolus. There are ten proteins in this complex and antibodies to eight of them are found at varying frequencies; PM/Scl-100, PM/Scl-75, hRrp4, hRrp42, hRrp46, hCs14, hRrp41, and hRrp40. HP:0032230 Cytoplasmic antineutrophil antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032230 The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils. HP:0032231 Hypochromia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032231 A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells. HP:0033563 Anti-tissue transglutaminase antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033563 Anti-tTG antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against tissue transglutaminase. HP:0033562 Anti-glycoprotein-210 antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033562 Anti-gp210 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against glycoprotein-210. HP:0032232 Increased circulating creatine kinase MB isoform biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032232 Increased circulating CK MB isoform An increased concentration of the MB isoform of creatine kinase in the blood circulation. HP:0033569 Extreme axis deviation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033569 A kind of abnormal ventricular axis in the EKG whereby the QRS axis fall sbetween -90 degrees and 180 degrees. In this case, the ventricular vector is directed upward and to the right. HP:0032237 Increased circulating myelocyte count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032237 An abnormally increased number of myelocytes in the peripheral blood circulation. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and seconday granules, and a nucleus:cytoplasm ratio of 2:1. HP:0033568 Left axis deviation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033568 Electrical left axis deviation A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between -30 degrees and -90 degrees. HP:0032238 Increased circulating metamyelocyte count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032238 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. HP:0032239 Increased circulating band cell count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032239 Left shift|Increased circulating band form neutrophils An abnormally increased number of band cells in the peripheral blood circulation. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small seconday granules, and a nucleus:cytoplasm ratio of 1:2. HP:0007266 Cerebral dysmyelination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007266 UMLS:C4020810|UMLS:C1854885 Dysmyelination of the brain|White matter dysmyelination/demyelination|Areas of dysmyelination on MRI Defective structure and function of myelin sheaths of the white matter of the brain. HP:0008598 Mild conductive hearing impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008598 UMLS:C4021536 Conductive hearing loss, mild A mild form of conductive hearing impairment. HP:0007267 Chronic axonal neuropathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007267 UMLS:C4021578 Chronic sural axonal neuropathy An abnormality characterized by chronic impairment of the normal functioning of the axons. HP:0007268 Aprosencephaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007268 UMLS:C0431349|MSH:D000757|SNOMEDCT_US:277922001 HP:0007269 Spinal muscular atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007269 UMLS:C0026847|MSH:D009134|SNOMEDCT_US:5262007 Spinal muscle wasting|Spinal muscle degeneration Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. HP:0007262 Symmetric peripheral demyelination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007262 UMLS:C4024914 A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. HP:0007263 Spinocerebellar atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007263 MSH:D020754|SNOMEDCT_US:129609000|UMLS:C0087012 Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord. HP:0008593 Prominent antitragus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008593 UMLS:C1968811 Hypertrophic antitragus|Hyperplastic antitragus|Enlarged antitragus Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix. HP:0008596 Postlingual sensorineural hearing impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008596 UMLS:C4024654 A form of sensorineural hearing impairment with onset after the acquisition of speech. HP:0007265 Absent mesencephalon biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007265 UMLS:C4024913 Agenesis of the midbrain. HP:0007280 Acute infantile spinal muscular atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007280 UMLS:C4024911 HP:0007281 Developmental stagnation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007281 UMLS:C1848980 Developmental arrest A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills. HP:0033570 Indeterminate ventricular axis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033570 A kind of abnormal ventricular axis in the EKG whereby the QRS complex is isoelectric or equiphasic in all leads with no dominant QRS deflection. HP:0032244 Decreased serum thromboxane B2 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032244 A reduction in the concentration of thromboxane B2 in the blood circulation. HP:0033576 Anti-H2B antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033576 The presence of autoantibodies in the blood circulation that react against histone H2B. HP:0032245 Abnormal metabolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032245 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. HP:0033575 Anti-H2A antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033575 The presence of autoantibodies in the blood circulation that react against histone H2A. HP:0033578 Pre-capillary pulmonary hypertension biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033578 Precapillary pulmonary hypertension Pre-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg). HP:0032247 Persistent CMV viremia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032247 Lasting (uncontrolled) presence of cytomegalovirus in the blood circulation. HP:0033577 In situ pulmonary artery thrombosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033577 Localized thrombosis in pulmonary arteries frequently found in patients with idiopathic and hereditary pulmonary arterial hypertension and pulmonary arterial hypertension associated with congenital heart disease. HP:0032240 Elevated circulating E selectin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032240 An increased concentration of E selectin in the blood circulation. HP:0033572 Anti-H1 antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033572 The presence of autoantibodies in the blood circulation that react against histone H1. HP:0032241 Cervical neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032241 A tumor (abnormal growth of tissue) of the uterine cervix. HP:0033571 Peripheral lung neovascularity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033571 The presence of small, tortuous, micronodular, serpiginous intrapulmonary vessels often in the subpleural lung or in proximity to centrilobular arterioles, coursing in directions inconsistent with known arteriolar anatomy. HP:0032242 Cervical intraepithelial neoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032242 A precancerous condition characterized by dysplasia of the cervical epithelium. Cervical intraepithelial neoplasia (CIN) 1, 2 and 3 based on its relationship with the prognosis. CIN 1 is mild dysplasia, which is mostly observed because it disappears as part of its natural course. CIN 3 includes severe dysplasia and carcinoma in situ, and management involves treatment because it is highly likely to develop into invasive cancer. HP:0033574 Anti-H3 antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033574 The presence of autoantibodies in the blood circulation that react against histone H3. HP:0032243 Abnormal tissue metabolite concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032243 Any deviation from the normal concentration of a metabolite in a tissue. HP:0033573 Anti-H4 antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033573 The presence of autoantibodies in the blood circulation that react against histone H4. HP:0032248 Persistent viremia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032248 Persistence of virus in the blood circulation longer than would be normal in an immunocompentent host. HP:0033579 Decreased growth hormone responses to growth hormone-releasing hormone challenge biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033579 Impaired growth hormone secretory responses after growth hormone-releasing hormone challenge Insufficient growth hormone secretion following administration of growth hormone-releasing hormone. HP:0032249 Coccidioidomycosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032249 Valley fever Infection by a Coccidioides species fungus. These are dimorphic, soil-dwelling, fungi known to cause a broad spectrum of disease, ranging from a mild febrile illness to severe pulmonary manifestations or disseminated disease. The genus Coccidioides is comprised of two genetically distinct species: Coccidioides immitis and C. posadasii. HP:0007277 Paucity of anterior horn motor neurons biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007277 UMLS:C2673351 HP:0007274 Recurrent bacterial meningitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007274 UMLS:C1845604 An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis. HP:0033581 Absent peripheral lymph nodes in presence of infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033581 The absence of any palpable lymph nodes in the presence of symptoms suggesting infection in that drainage area should raise suspicion for immunodeficiency diseases. HP:0032250 Acinetobacter infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032250 An infection by Acinetobacter baumannii, a Gram-negative bacillus that is aerobic, pleomorphic and non-motile. An opportunistic pathogen, A. baumannii has a high incidence among immunocompromised individuals, particularly those who have experienced a prolonged (over 90 d) hospital stay. HP:0033580 Compound motor action potential abnormality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033580 An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibres in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fibre action potentials. The shortest latency of the CMAP is the time from stimulus artefact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV). HP:0007250 Recurrent external ophthalmoplegia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007250 UMLS:C4024915 Alternating and recurrent weakness of the external ocular muscles. HP:0033587 Vulvar abscess biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033587 A circumscribed area of pus or necrotic debris in the vulvar region. HP:0032255 Opportunistic fungal infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032255 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. HP:0033586 Cellular non-specific interstitial pneumonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033586 A type of non-specific interstitial pneumonia in which interstitial thickening is mainly due to infiltration of inflammatory cells and type II pneumocyte hyperplasia. HP:0032256 Histoplasmosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032256 Histoplasmosis is caused by the fungus Histoplasma capsulatum and is consider to be an opportunistic infection in immunosuppressed persons. HP:0033589 Flatulence biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033589 Passage of excessive amounts of gas and the feeling of abdominal fullness and bloating. HP:0032257 Disseminated histoplasmosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032257 Histoplasmosis infection involving multiple sites of the body. Disseminated histoplasmosis can involve various organs, including reticuloendothelial organs, gastrointestinal tract, adrenal glands, central nervous system, endovascular structures, kidney, and skin. It typically presents with systemic symptoms like fever, generalized fatigue, night sweats, weight loss, and the symptoms related to the specific organ involved. Severe disseminated disease can manifest as septic shock, multi organ failure, and ARDS. HP:0032258 Pulmonary histoplasmosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032258 Infection of the lungs with Histoplasma capsulatum. Symptoms may include fever, headache, weakness, chest pain and dry cough. When imaging is done, chest radiographs may show patchy pneumonia involving one or more lobes with adenopathy of the mediastinum or hilum. HP:0033588 Labial adhesion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033588 Labial agglutination|Synechia vulvae Synechia vulvae (adhesions of the labia minora) are characterized by a complete or partial fusion of the labia minora in the midline. HP:0033583 Follicular bronchiolitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033583 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. HP:0032251 Abnormal immune system morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032251 HP:0033582 Pulmonary interstitial lymphocyte infiltration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033582 Abnormal accumulation of lymphocytes in the interstitium of the lung. HP:0032252 Granuloma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032252 A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis. HP:0033585 Fibrotic non-specific interstitial pneumonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033585 A type of non-specific interstitial pneumonia in which interstitial thickening is due to uniform dense or loose fibrosis and mild chronic inflammation. HP:0032253 Eosinophilic granuloma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032253 A type of granuloma characterized morphologically by the predominance of Langerhans cells with characteristic grooved, folded, indented nuclei in the appropriate milieu that includes variable numbers of eosinophils and histiocytes including multinucleated forms, often appearing similar to osteoclasts or touton like giant cells, neutrophils and small lymphocytes. The concentration of the eosinophilic infiltrate varies from scattered mature cells to sheet-like masses of cells. Occasionally, areas of bone necrosis may interrupt the cellular infiltrate. The foamy cells may also be amassed in clumps, which are of no clinical significance because these clumps represent phagocytosis of lipid debris. HP:0033584 Nonspecific interstitial pneumonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033584 NSIP|Temporally uniform pulmonary inflammation|Nonspecific interstitial pneumonitis Temporally uniform (all lesions are in the same stage of evolution) pattern of diffuse inflammatory interstitial process, mostly symmetric over the entire lung, involving mainly the alveolar septa. HP:0032254 Increased circulating copper concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032254 Hypercupremia|Elevated serum copper An abnormally elevated concentration of copper in the blood circulation. This term refers to the total copper concentration. HP:0032259 Chronic tinea infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032259 The term tinea means fungal infection, whereas dermatophyte refers to the fungal organisms that cause tinea. This term refers to a tinea infection that is chronic or recalcitrant to treatment and may be reflective of an immune defect. HP:0007249 Decreased number of small peripheral myelinated nerve fibers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007249 UMLS:C4024916 Decreased number of small peripheral myelinated nerve fibres HP:0020221 Clonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020221 A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive. HP:0008577 Underfolded helix biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008577 UMLS:C1849735 Poorly folded helices Underdevelopment of the helix that either affects the entire helix, or is localized. HP:0007240 Progressive gait ataxia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007240 UMLS:C1843885 Gait ataxia, progressive A type of gait ataxia displaying progression of clinical severity. HP:0008572 External ear malformation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008572 UMLS:C1846460 External ear malformation A malformation of the auricle of the ear. HP:0020220 Focal atonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020220 Segmental atonic seizure|Partial hypotonic seizure|Localized atonic seizure|Localised hypotonic seizure|Localized hypotonic seizure|Localised atonic seizure|Segmental hypotonic seizure|Partial atonic seizure A focal seizure characterized at onset by sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic activity, typically lasting more than 500 ms but less than 2 seconds. It may involve the head, trunk, jaw or limb musculature. HP:0008573 Low-frequency sensorineural hearing impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008573 UMLS:C3810445 Low-frequency sensorineural hearing loss A form of sensorineural hearing impairment that affects primarily the lower frequencies. HP:0033590 Inguinal abscess biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033590 Groin abscess A circumscribed area of pus or necrotic debris in the groin (inguinal region). HP:0020219 Motor seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020219 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. HP:0020218 Focal aware atonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020218 A type of focal atonic seizure during which awareness is fully retained throughout. HP:0032260 Opportunistic bacterial infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032260 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. HP:0007260 Type II lissencephaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007260 MSH:D054222|SNOMEDCT_US:253149002|UMLS:C0431376 Lissencephaly type II|Cobblestone lissencephaly|Type 2 lissencephaly A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers. HP:0033592 Anti-H3-H4 antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033592 The presence of autoantibodies in the blood circulation that react against the H3-H4 histone dimer. HP:0032261 Nontuberculous mycobacterial pulmonary infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032261 An infection of the lung caused by environmental mycobacteria. Such infections can occur in individuals with predisposing lung disease or immune disease. HP:0033591 Staghorn calculus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033591 Staghorn renal stone Large branching stones that fill part of all of the renal pelvis and renal calyces and they can be complete or partial depending on the level of occupancy of the collecting system. HP:0008591 Congenital conductive hearing impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008591 UMLS:C4021537 Congenital conductive hearing loss|Congenital conductive deafness A type of conductive deafness with congenital onset. HP:0020215 Thinking-induced seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020215 Cognition induced seizure Seizures induced by thinking and decision-making. comment: HP:0020214 Startle-induced seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020214 Startle-induced seizures are triggered by multiple and non-specific stimuli (auditory, somatosensory, and rarely visual) and are characterized by their sudden unexpected nature. Sudden noise rather than pure sound is the most effective acoustic stimulus. HP:0020217 Focal aware motor seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020217 Focal motor aware seizure A type of focal motor seizure in which awareness is retained throughout the seizure. HP:0020216 Visually-induced seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020216 Photosensitive seizure Seizures evoked by visual stimuli. This includes clinical seizures induced by strobe lighting, television and other screens, flickering environmental lighting and self-induction by causing a strobe effect. HP:0032266 CSF anti-NMDA receptor antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032266 Presence of anti-N-methyl-D-aspartate Receptor antibody in CSF|Presence of anti-NMDAR antibody in cerebrospinal fluid|Presence of NMDAR antibody in CSF The presence of autoantibodies (immunoglobulins) in the cerebrospinal fluid (CSF) that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor. HP:0010896 Hypersarcosinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010896 UMLS:C0268563|SNOMEDCT_US:64852002|MSH:C537236 High plasma sarcosine levels An elevated plasma concentration of sarcosine. HP:0033598 Fibrillar glomerular subepithelial deposits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033598 Fibrillar deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate). HP:0010895 Abnormal circulating glycine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010895 UMLS:C4023670 Any deviation from the normal concentration of glycine in the blood circulation. HP:0033597 Decreased mucosal sucrase-isomaltase activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033597 Reduced activity of the linked disaccharidase, sucrase-isomaltase, which is a glycoprotein localized to the brush border membrane of small intestinal villi. HP:0032267 Empty delta sign biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032267 This sign is created by a nonenhancing thrombus in the dural sinus surrounded by triangular enhancing dura as seen on cross-section. The sign, seen on contrast-enhanced CT scan images, suggests dural sinovenous thrombosis. It is best seen on wider window settings. It is a reliable sign of sinus thrombosis but is seen only in 25-30% of these cases. HP:0010894 Abnormal circulating serine family amino acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010894 UMLS:C4023671 Abnormality of serine family amino acid metabolism Any deviation from the normal concentration of a serine family amino acid in the blood circulation. HP:0032268 Dural tail sign biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032268 This sign represents thickening and enhancement of the dura mater in continuity with a mass, which on MR images, gives the appearance of a tail arising from the mass. The dural tail is thought to represent reactive change; however, it may also be due to tumor invasion. Three criteria need to be met for a positive dural tail sign: the tail should be seen on two successive images through the tumor, it should taper away from the tumor, and it must enhance more than the tumor. HP:0033599 Glomerular amyloid subepithelial deposits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033599 A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). HP:0032269 Lemon sign biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032269 Bifrontal flattening of the fetal head as observed by prenatal ultrasonographic examination, an appearance that is said to resemble a lemon. HP:0010893 Abnormal circulating phenylalanine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010893 UMLS:C4023672 Abnormality of phenylalanine metabolism Any deviation from the normal concentration of phenylalanine in the blood circulation. HP:0010892 Abnormal circulating branched chain amino acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010892 UMLS:C4023673 Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation. HP:0033594 Elevated urinary 7-biopterin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033594 Primapterinuria An abnormally increased amount of 7-biopterin in the urine. HP:0032262 Pulmonary tuberculosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032262 Pulmonary TB A lung infection by Mycobacterium tuberculosis a slightly curved non-motile, aerobic, non-capsulated and non-spore forming strains of mycobacteria. HP:0033593 Anti-H2A-H2B antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033593 The presence of autoantibodies in the blood circulation that react against the H2A-H2B histone dimer. HP:0010891 Morbus Scheuermann biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010891 MSH:D012544|UMLS:C0036310|SNOMEDCT_US:53406005 Scheuermann disease|Calve disease|Sherman's Disease|Scheuermann kyphosis|Juvenile Osteochondrosis of the spine A developmental growth retardation of the vertebral end plates that may lead to secondary destruction of the vertebral end plates and protrusion of the nucleus pulposus into the vertebral body (so called Schmorl's nodes as seen on x-rays). HP:0032263 Increased blood pressure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032263 Increased BP Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension. HP:0032264 Anti-NMDA receptor antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032264 Presence of anti-NMDAR antibody in blood|Presence of anti-N-methyl-D-aspartate Receptor antibody in blood The presence of autoantibodies (immunoglobulins) in the serum that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor. HP:0010890 Morbus Osgood-Schlatter biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010890 UMLS:C0029376|SNOMEDCT_US:79353000|SNOMEDCT_US:72047008|MSH:D055034 Osgood Schlatter disease Morbus Osgood-Schlatter is a Juvenile aseptic necrosis affecting the Tuberositas tibiae. HP:0033596 Elevated urinary 3-methylcrotonylglycine level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033596 An abnormally increased amount of 3-methylcrotonylglycine in the urine. HP:0033595 Elevated circulating globotriaosylceramide concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033595 Elevated circulating ceramidetrihexoside concentration Increased concentration of globotriaosylceramide (Gb3) in the blood circulation. Globotriaosylceramide, also named ceramidetrihexoside, is the primary lipid storage in Fabry disease. HP:0032265 CSF autoimmune antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032265 Cerebrospinal fluid autoimmune antibody positivity The presence of an antibody in the cerebrospinal fluid (CSF) that is directed against the organism's own cells or tissues. HP:0010899 Abnormal circulating aspartate family amino acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010899 UMLS:C4023667 Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation. HP:0010898 Abnormal circulating sarcosine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010898 UMLS:C4023668 An deviation from the normal concentration of sarcosine in the blood circulation. HP:0010897 Hypersarcosinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010897 UMLS:C4023669 High urine sarcosine levels An elevated urinary concentration of sarcosine. HP:0008587 Mild neurosensory hearing impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008587 UMLS:C4021538 Mild neurosensory hearing loss The presence of a mild form of sensorineural hearing impairment. HP:0020211 Proprioceptive-induced seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020211 A seizure precipitated by movement or a change in posture. HP:0020210 Praxis-induced seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020210 A seizure precipitated by complex, cognition-guided tasks often involving visuomotor coordination and decision-making. HP:0007256 Abnormal pyramidal sign biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007256 SNOMEDCT_US:14648003|UMLS:C0234132 Pyramidal signs|Pyramidal tract signs|Corticospinal signs Functional neurological abnormalities related to dysfunction of the pyramidal tract. HP:0008586 Hypoplasia of the cochlea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008586 UMLS:C2676974 Hypoplastic cochlea|Underdeveloped cochlea Developmental hypoplasia of the cochlea. HP:0020213 Somatosensory-induced seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020213 A somatosensory reflex seizure is a seizure precipitated by somatic stimulation of a specific part of the body in the absence of startle or surprise. HP:0008589 Hypoplastic helices biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008589 UMLS:C1842681 Underdeveloped helices Underdevelopment of the helix, i.e., of the outer rim of the pinna. HP:0008588 Slit-like opening of the exterior auditory meatus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008588 UMLS:C1846459 A type of stenosis of the external auditory meatus in which the opening of the external auditory meatus appears as a vertical slit. HP:0020212 Reading-induced seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020212 A seizure precipitated by reading. HP:0007258 Severe demyelination of the white matter biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007258 UMLS:C1856001 A severe loss of myelin from nerve fibers in the central nervous system. HP:0008583 Underfolded superior helices biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008583 UMLS:C4024655 A condition in which the superior portion of the helix is folded over to a lesser degree than normal. HP:0033521 Nasal dryness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033521 A lack of humidification of the nasal mucosa. HP:0033520 Paradoxical embolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033520 Paradoxical embolism describes the passage of a venous or right-sided cardiac thrombus into the arterial or systemic circulation. Comment: Paradoxical embolism occurs most commonly through an intracardiac defect at the atrial level, but can also be due to another type of right-to-left-shunt, as for example in pulmonary arteriovenous malformations. Paradoxical embolism may lead to serious complications as ischemic stroke. HP:0033523 Abnormal sperm principal piece morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033523 A structural anomaly of the part of the sperm flagellum that is distal to the sperm midpiece and mitochondrial sheath and which leads into the end piece. HP:0033522 Cerebral cavernous malformation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033522 A cerebral cavernous malformation (also known as cavernoma, cavernous angioma, cavernous hemangioma) is a collection of structurally abnormal slow-flow capillaries predominantly in the central nervous system. These are multiple mulberry-like distended caverns of dilated thin-walled capillaries without the normal intervening brain parenchymal architecture. Often, individual cavernomas are surrounded by hemosiderin representing remote oozing due to the abnormal capillaries. HP:0033529 Abnormal cardiac index biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033529 Any deviation from the normal value of the cardiac index, defined as cardiac output divided by body surface area. HP:0033528 Abnormal cardiac output biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033528 A deviation from normal Cardiac output, which is defined as the amount of blood pumped by the heart minute and is the mechanism whereby blood flows around the body, especially providing blood flow to the brain and other vital organs. HP:0033525 Absent sperm axoneme central pair complex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033525 Absent central pair complex (9+0 pattern) Absense of the central pair of microtubules in the sperm axoneme, thereby forming a 9+0 pattern instead of the normal 9+2 pattern. HP:0033524 Abnormal sperm axoneme morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033524 Abnormal structure of the sperm axonemal structure which consists of a ring of nine microtubular doublets and a central pair of microtubules, giving the classical 9+2 microtubular arrangement. The axoneme contains a central pair of microtubules (C1 and C2) that are connected by a bridge-like structure forming the central pair complex (CPC). Each of the nine outer doublets is composed of type A and B microtubules and connected by radial spokes to the CPC. HP:0033527 Decreased gonadotropin-stimulated testosterone-to-androstenedione ratio biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033527 Decreased plasma testosterone-to-androstenedione ratio A reduced amount of testosterone relative in androstenedione in the blood circulation following administration of hCG (Human Chorionic Gonadotropin). HP:0033526 Limited ankle dorsiflexion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033526 Reduced ability to move the foot up toward the shin. HP:0033532 Decreased cardiac output biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033532 A decreased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat. HP:0032200 Perivascular fibrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032200 The presence of thick collagen bundles around blood vessels, often in an onion-skin type whorling pattern. HP:0032201 Rotator cuff tear biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032201 The term rotator cuff describes the tendons connecting the infraspinatus, supraspinatus, teres minor, and subscapularis muscles to the humeral head.Traumatic tears of the rotator cuff tend to occur at the tendon-bone junction of the supraspinatus and greater tuberosity of the humerus whereas degenerative tears tend to be seen posteriorly at the junction of the supraspinatus and infraspinatu A rotator cuff tear is when one or more of these tendons tears or detaches from the humerus. HP:0033531 Decreased cardiac index biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033531 A reduced cardiac index, defined as cardiac output divided by body surface area. HP:0032202 Vulvar intraepithelial neoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032202 Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognised: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC. HP:0033534 Increased circulating brain natriuretic peptide concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033534 Increased ventricular natriuretic peptide|Increased B-type natriuretic peptide|Elevated circulating BNP concentration An increased concentration of brain natriuretic peptide in the blood circulation. HP:0032203 Lymphoid nodular hyperplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032203 Lymphonodular hyperplasia of the colon Lymphoid nodular hyperplasia (LNH) of the terminal ileum and colon has been considered a mucosal response to nonspecific stimuli, most often infections, and consequently has been regarded as a pathophysiologic phenomenon during infancy and childhood. LNH can be ascertained by colonoscopy, whereby a lymphoid nodule is defined as an extruding follicle with a diameter of not more than 2 mm, and LNH is defined as a cluster of not more than 10 of such extruding lymphoid nodules (see Figure 1 of PMID:17368236). HP:0033533 Increased cardiac output biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033533 An increased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat. HP:0033530 Increased cardiac index biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033530 An elevated cardiac index, defined as cardiac output divided by body surface area. HP:0032208 Increased urinary type 1 collagen N-terminal telopeptide level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032208 Increased urine NTx level|Increased collagen crosslinked N-telopeptide [Moles/volume] in 24 hour urine 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. HP:0033539 Bilateral apical pulmonary fibrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033539 A reticular pattern of linear or lineonodular densities in apical portions of both the right and left lungs seen initially on high-resolution computed tomography and in case of progression also on standard chest x-ray. HP:0032209 Abnormal circulating free T3 level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032209 Abnormal circulating free triiodotyronine concentration|Abnormal circulating free T3 concentration A deviation from the normal concentration of free triiodothyronine (T3) in the blood circulation. A proportion of T3 is bound to plasma proteins in the blood, including mainly thyroxine binding globulin, transthyretin, and albumin. T3 that is not bound to a protein is referred to as free T3. HP:0032204 Chronic active Epstein-Barr virus infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032204 Chronic active Epstein-Barr virus (EBV) infection is an uncommon outcome of EBV infection and may present as a waxing and waning or fulminant syndrome. Unlike acute infectious mononucleosis, wherein EBV establishes lifelong infection and survives by maintaining a delicate balance with the host as a latent infection, in chronic active EBV infection the host-virus balance is disturbed. HP:0033536 Reduced platelet alpha granules biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033536 A reduced number of platelet alpha granules. HP:0032205 Increased circulating galectin-3 level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032205 An increased circulation of galectin-3 in the blood circulation. Galectin-3 is a member of the family of beta-galactoside-binding endogenous lectins. It is a multifunctional factor that binds to distinct ligands and triggers production of matrix metalloproteinases, and thereby plays a role in cardiac fibrosis and remodelling. HP:0033535 Reduced platelet dense granules biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033535 Decreased number of platelet dense granules, a type of platelet organelle. HP:0033538 Aortic annulus calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033538 Aortic annular calcification Pathological deposition of calcium salts in the aortic annulus, a fibrous ring-like structure found at the insertion point of the basal attachments of the aortic valve leaflets within the left ventricular outflow tract. HP:0032207 Abnormal cerebrospinal fluid metabolite concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032207 Abnormal CSF metabolite concentration Any deviation from the normal concentration of a metabolite in cerebrospinal fluid. HP:0033537 Mosaic pulmonary attenuation pattern biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033537 Mosaic attenuation refers to heterogeneous areas of differing pulmonary attenuation on CT imaging. HP:0007291 Posterior fossa cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007291 UMLS:C1857353 A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle. HP:0007293 Anterior sacral meningocele biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007293 UMLS:C1867776 HP:0033543 Nicotine addiction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033543 Nicotine dependence Nicotine addition can be defined as chronic compulsive nicotine seeking and continued use despite harmful consequences. HP:0032211 Increased urinary epithelial cell count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032211 An increased number of epithelial cells per high-power field in urinanalysis. HP:0033542 Bronchial wall thickening biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033542 Peribronchial thickening|Peribronchial cuffing Radiological appearance of increased density around the walls of a bronchus or large bronchiole. This feature is thought to be related to edema involving the bronchial wall as well as the peribronchial interstitial space. If the cross section of a bronchus is captured in a radiograph or computed tomography image, it is said to have the appearance of a donut because of the central lucency representing the airway of the bronchus surrounded by a circular region of increased density. HP:0032212 Increased urinary squamous epithelial cell count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032212 An increased number of squamous epithelial cells per high-power field in urinanalysis. HP:0033545 Mesangial fibrillary deposits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033545 Extracellular mesangial aggregates composed of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. HP:0032213 Increased urinary renal tubular epithelial cell count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032213 An increased number of renal tubular epithelial cells per high-power field in urinanalysis. HP:0032214 Increased urinary transitional epithelial cell count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032214 An increased number of transitional epithelial cells per high-power field in urinanalysis. HP:0033544 Mesangial fibril deposition biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033544 Extracellular mesangial accumulation of slender proteinaceous fibers. HP:0033541 Irreversible airflow obstruction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033541 Irreversible pulmonary obstruction Airflow obstruction without significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL. HP:0033540 Reversible airflow obstruction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033540 Reversible pulmonary 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. HP:0032210 Decreased circulating free T3 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032210 Decreased circulating free triiodothyronine A reduced concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation. HP:0032219 Increased proportion of CD4-positive T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032219 Increased proportion of CD4+ T cells|Elevated proportion of CD4-positive T cells|Increased proportion of CD4-positive, alpha-beta T cells An elevation in the proportion of CD4-positive T cells relative to the total number of T cells. HP:0032215 Disseminated cutaneous warts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032215 Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities. HP:0033547 Mesangial immunotactoid deposits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033547 Extracellular mesangial aggregates composed of non-branching fibrils, focally parralel over 30 nM in diameter. The term immunotactoid refers to highly organized immune depositions appearing as rod-like microtubular structures in ultrastructural examination. HP:0032216 Lymphocytic infiltration of the colorectal mucosa biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032216 Abnormally increased intraepithelial lymphocyte count. This finding may be appreciated as large numbers of surface intraepithelial lymphocytes as seen (for instance) with hematoxylin and eosin staining of a colonic biopsy sample taken during colonoscopy. HP:0033546 Mesangial microfibril deposition biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033546 Unbranched noncollagenous microfibrils within the mesangial matrix, composed of proteins not present within the glomerular basement membrane (GBM), most notably fibrillin-1, that attach to mesangial cells and GBM structural proteins. HP:0032217 Indurated nodule biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032217 A skin nodule that is unusually hard (indurated). HP:0033549 Nodular mesangiosclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033549 Lobular, round to oval mesangial lesions with an acellular hyaline/matrix core surrounded by compressed mesangial nuclei. HP:0033548 Mesangial amyloid deposition biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033548 Extracellular mesangial aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. HP:0032218 Decreased proportion of CD4-positive T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032218 Decreased proportion of CD4+ cells|Reduced proportion of CD4-positive cells|Decreased proportion of CD4-positive, alpha-beta T cells A reduction in the proportion of CD4-positive T cells relative to the total number of T cells. HP:0007289 Limb fasciculations biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007289 UMLS:C1854657 Limb fasciculation Fasciculations affecting the musculature of the arms and legs. HP:0007285 Facial palsy secondary to cranial hyperostosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007285 UMLS:C1849260 Facial palsy caused by enlargement of cranial bones|Facial palsy secondary to hypertrophy of cranial bones|Facial palsy caused by overgrowth of cranial bones|Facial palsy caused by excessive growth of facial bones Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve. HP:0007286 Horizontal jerk nystagmus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007286 UMLS:C4024910 Nystagmus consisting of horizontal to-and-fro eye movements, in which the movement in one direction is faster than in the other. HP:0032222 Serrated intestinal polyps biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032222 Serrated polyposis The presence of multiple serrated polyps in the intestine. Unlike conventional adenomas, which are uniformly dysplastic, the vast majority of serrated lesions contain no dysplasia. The serrated class includes the hyperplastic polyps, which are not considered precancerous; sessile serrated polyps (also called sessile serrated adenomas); and traditional serrated adenomas. Sessile serrated polyps are larger on average and more often located in the proximal colon. Sessile serrated polyps have a more irregular surface, a pattern to the surface that has been called cloudlike, and indistinct edges compared with hyperplastic polyps. Sessile serrated polyps also have large open pits on the surface (type O pits) when viewed with magnification. HP:0033554 Anti-Mi2 antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033554 The presence of autoantibodies in the blood circulation that react against the Mi-2 antigen. HP:0033553 Septic embolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033553 Septic emboli Embolization of intravascular thrombus containing microorganisms into the distant tissues via arterial system. HP:0032223 Blood group biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032223 Any of the various types of human blood whose antigen characteristics determine compatibility in transfusion. While the ABO and Rhesus sytems are the most well known, there are in total about 300 different blood type antigens distributed across 34 different blood type systems. HP:0032224 ABO blood group biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032224 The ABO system consists of A and B antigens and antibodies against these antigens. HP:0033556 Anti-nucleoporin 62 antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033556 Anti-p62 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against nucleoporin 62. HP:0032225 Perifollicular fibroma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032225 Perifollicular fibroma is a rare cutaneous hamartoma that shows differentiation in the connective tissue sheath of hair follicles. It can occur as a solitary papule or as multiple lesions. Histologically, the lesion consists of a concentric arrangement of cellular fibrous tissue around a normal hair follicle. HP:0033555 Anti-Ro/SS-A antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033555 The presence of autoantibodies in the blood circulation that react against Ro/SSA autoantigens. HP:0033550 Necrotizing pulmonary granulomatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033550 Caseating pulmonary granulomatosis A granuloma that is associated with necrotic changes. Caseation necrosis is defined as a region in granulomas with eosinophilic, granular and cheese-like cellular debris with necrosis. The word caseous itself means pertaining or related to cheese, and comes from the Latin word caseus, meaning cheese. HP:0033552 Chronic villitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033552 Nonspecific chronic villitis|Chronic villitis (non-infectious)|Villitis of unknown etiology 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. HP:0032220 Interface hepatitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032220 Inflammation of the liver characterized by a mononuclear cell infiltrate whereby portal inflammatory cells extend through the limiting plate between the portal tract and liver parenchyma. HP:0032221 Periportal emperipolesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032221 The engulfing of lymphocytes by hepatocytes, which typically occurs in the interface hepatitis area. HP:0033551 Non-necrotizing pulmonary granulomatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033551 Non-caseating pulmonary granulomatosis|A granuloma located in the lung that is not associated with necrotic changes. HP:0032226 Abnormal sebaceous gland morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032226 Any structural anomaly of the sebaceous glands. HP:0033558 Anti-histone antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033558 The presence of autoantibodies in the blood circulation that react against histone antigens. HP:0032227 Sebaceous hyperplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032227 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. HP:0033557 Anti-proteinase 3 antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033557 Anti-PR3 antibody positivity The presence of autoantibodies in the blood circulation that react against proteinase 3. Proteinase 3 (PR3) antigen is a 29-kD serine protease that exists as a protein triplet in human neutrophils HP:0032228 Trichodiscoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032228 A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion. HP:0032229 Perinuclear antineutrophil antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032229 p-ANCA positivity The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils. HP:0033559 Anti-myeloperoxidase antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033559 Anti-MPO antibody positivity The presence of autoantibodies in the blood circulation that react against myeloperoxidase. HP:0007299 Dysfunction of lateral corticospinal tracts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007299 UMLS:C1832671 HP:0007295 Chaotic rapid conjugate ocular movements biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007295 UMLS:C4024909 HP:0010841 Multifocal epileptiform discharges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010841 UMLS:C4021219 Multifocal EEG abnormality An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci). HP:0008518 Aplasia/Hypoplasia involving the vertebral column biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008518 UMLS:C4024659 Absent/underdeveloped vertebral column|Absent/small backbone|Absent/underdeveloped backbone|Absent/underdeveloped spine|Absent/small vertebral column|Absent/small spine HP:0009849 Symphalangism of middle phalanx of finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009849 UMLS:C4024184 Fused middle finger bone Fusion of a middle phalanx of a finger with another bone. HP:0010849 EEG with spike-wave complexes (>3.5 Hz) biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010849 UMLS:C4023684|UMLS:C4020765 EEG with 3-4-Hz spike waves The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG). HP:0009848 Patchy sclerosis of middle phalanx of finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009848 UMLS:C4021382 Patchy sclerosis of the middle phalanges of the hand|Uneven increase in bone density in the middle finger bones of the hand Uneven (irregular) increase in bone density of one or more of the middle phalanges of the hand. HP:0010848 EEG with spike-wave complexes (2.5-3.5 Hz) biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010848 UMLS:C4023685 The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG). HP:0008517 Aplasia/Hypoplasia of the sacrum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008517 UMLS:C4024660 Absent/small sacrum|Absent/underdeveloped sacrum Aplasia or developmental hypoplasia of the sacral bone. HP:0010847 EEG with spike-wave complexes (<2.5 Hz) biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010847 UMLS:C4023686 The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG). HP:0008519 Abnormal coccyx morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008519 UMLS:C4024658 Abnormality of the coccyx|Abnormal tailbone Any structural abnormality of the coccyx. HP:0010846 EEG with persistent abnormal rhythmic activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010846 UMLS:C4021216 EEG: persistent abnormal rhythmic activity HP:0009845 Bullet-shaped middle phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009845 UMLS:C4024187 Any of the middle phalanges with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. HP:0010845 EEG with generalized slow activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010845 UMLS:C4021217 EEG: generalized slow activity|EEG with generalised slow activity|EEG: generalised slow activity Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG). HP:0008513 Bilateral conductive hearing impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008513 UMLS:C0452136|SNOMEDCT_US:194417009 Bilateral conductive hearing loss|Bilateral conductive deafness A bilateral type of conductive hearing impairment. HP:0010844 EEG with multifocal slow activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010844 UMLS:C4023687 Multifocal slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG). HP:0009844 Broad middle phalanx of finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009844 UMLS:C4021383 Broad middle phalanges of the hand|Broad middle phalanges of finger|Broad middle finger bones Increased width of the middle phalanx of finger. HP:0010843 EEG with focal slow activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010843 UMLS:C4021218 EEG: localized slow activity|EEG: focal slow activity|EEG: localised slow activity Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy). HP:0009847 Osteolytic defects of the middle phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009847 UMLS:C4024185 HP:0008516 Abnormality of the vertebral spinous processes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008516 UMLS:C4024661 HP:0008515 Aplasia/Hypoplasia of the vertebrae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008515 UMLS:C4024662 Absent/underdeveloped vertebrae|Absent/small vertebrae HP:0009846 Curved middle phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009846 UMLS:C4024186 Curved middle finger bonds of the hand HP:0009840 Patchy sclerosis of distal phalanx of finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009840 UMLS:C4021384 Uneven increase in bone density in outermost finger bone|Patchy sclerosis of the distal phalanges of the hand Uneven (irregular) increase in bone density of the distal phalanges of the hand. HP:0009843 Aplasia/Hypoplasia of the middle phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009843 UMLS:C1862152 Absent/underdeveloped middle finger bone of the hand|Hypoplastic/aplastic middle phalanx|Short/absent middle phalanges|Aplastic/hypoplastic middle phalanges|Aplasia/hypoplasia of middle phalanges|Short to absent middle phalanges|Absent/small middle finger bone of the hand|Absent/hypoplastic middle phalanges HP:0008511 Central posterior corneal opacity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008511 SNOMEDCT_US:246967007|UMLS:C0423260 Reduced transparency of the central posterior portion of the corneal stroma. HP:0010830 Impaired tactile sensation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010830 UMLS:C4021221 Impaired touch sensation|Loss of tactile sensation A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus. HP:0008529 Absence of acoustic reflex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008529 UMLS:C1832834 Absent middle ear reflexes|Absence of acoustic middle ear muscle reflexes Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli. HP:0010838 High nonceruloplasmin-bound serum copper biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010838 UMLS:C1848459 An increased concentration of non ceruloplasmin bound copper in the blood. HP:0008528 Long hairs growing from helix of pinna biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008528 SNOMEDCT_US:27394002|UMLS:C4024657|UMLS:C0222050 Long hairs growing from helix of ear|Ear hair HP:0010837 Decreased circulating ceruloplasmin concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010837 UMLS:C0240997 Hypoceruloplasminemia|Decreased serum ceruloplasminA|Hypoceruloplasminaemia|Decreased serum ceruloplasmin Decreased concentration of ceruloplasmin in the blood. HP:0010836 Abnormal circulating copper concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010836 UMLS:C4023689|UMLS:C4020766 Abnormal copper levels An abnormal concentration of copper. HP:0010835 Dissociated sensory loss biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010835 UMLS:C0278136|SNOMEDCT_US:87275002 A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa. HP:0010834 Trophic changes related to pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010834 UMLS:C4021220 Trophic changes 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. HP:0009856 Patchy sclerosis of proximal phalanx of finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009856 UMLS:C4021381 Patchy sclerosis of the proximal phalanges of the hand|Uneven increase in bone density in innermost finger bone Uneven increase in bone density of the proximal phalanges of the hand. HP:0009855 Osteolytic defects of the proximal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009855 UMLS:C1850148 Proximal phalanges osteolysis HP:0010833 Spontaneous pain sensation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010833 UMLS:C4023690 Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger. HP:0008527 Congenital sensorineural hearing impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008527 UMLS:C1865866|SNOMEDCT_US:700453005 Congenital perceptive deafness|Congenital sensorineural deafness|Bilateral congenital sensorineural deafness|Hearing loss, congenital sensorineural|Congenital sensorineural hearing loss|Congenital neurosensory deafness A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset. HP:0009858 Triangular shaped proximal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009858 UMLS:C4024177 Triangular shaped innermost finger bone HP:0010832 Abnormality of pain sensation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010832 UMLS:C4023691 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. HP:0009857 Symphalangism affecting the proximal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009857 UMLS:C4024178 Fused innermost hand bones HP:0010831 Impaired proprioception biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010831 UMLS:C1856691 Abnormality of proprioception A loss or impairment of the sensation of the relative position of parts of the body and joint position. HP:0009852 Broad proximal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009852 UMLS:C4024181 Wide innermost finger bones of the hand|Broad innermost finger bones of the hand Increased width of the proximal phalanges of the finger. HP:0009851 Aplasia/Hypoplasia of the proximal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009851 UMLS:C4024182 Absent/small innermost finger bones of the hand|Absent/underdeveloped innermost finger bones of the hand HP:0008523 Posterior helix pit biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0008523 UMLS:C4021539 Ear, posterior helical groove|Indentation in back of outer ear|Ear, posterior helical notch|Pits in posterior aspect of ear helices|Helix, posterior pit Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated. HP:0009854 Curved proximal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009854 UMLS:C4024179 Curved innermost finger bones of the hand HP:0009853 Bullet-shaped proximal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009853 UMLS:C4024180 Bullet-shaped innermost finger bones of the hand Short and wide proximal phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. HP:0009850 Triangular shaped middle phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009850 UMLS:C4024183 Triangular shaped middle finger bones of the hand HP:0010839 Increased urinary copper concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010839 UMLS:C4023688 Increased urinary copper concentration An increased concentration of copper in the urine. HP:0033501 Subepithelial glomerular basement membrane electron dense deposits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033501 Prominent glomerular basement membrane (GBM) reflecting a diffuse and relativly uniform increase in thickness (subjective estimate) with exogenous material deposited between the outer (epithelial) aspect of the GBM and the visceral epithelial cell, with varying degrees of incorporation into the GBM. HP:0033500 Subendothelial glomerular basement membrane electron dense deposits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033500 Electron dense deposits in the glomerular basement membrane (GBM) subendothelial space associated with a prominent GBM reflecting an increase in thickness. This feature can be associated with GBM remodeling along the endothelial aspect. HP:0009827 Amelia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009827 MEDDRA:10001926|SNOMEDCT_US:62588002|UMLS:C0002447|MSH:D004480 Congenital absence (aplasia) of one or more limbs. HP:0010827 Abnormality of the seventh cranial nerve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010827 UMLS:C4021223 Abnormality of the facial nerve Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve. HP:0033507 Decreased esterified to free carnitine ratio biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033507 A reduced ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine. HP:0009826 Limb undergrowth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009826 UMLS:C0239399 Hypoplasia involving bones of the extremities|Short limb|Limb undergrowth|Short limbs|limb shortening Limb shortening because of underdevelopment of one or more bones of the extremities. HP:0010826 Abnormality of the twelfth cranial nerve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010826 UMLS:C4021224 Abnormality of the hypoglossal nerve|Abnormality of cranial nerve xii|Abnormality of cranial nerve 12 Abnormality of the twelfth cranial nerve. HP:0033506 Increased esterified to free carnitine ratio biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033506 An elevated ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine. HP:0009829 Phocomelia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009829 MSH:D004480|MEDDRA:10034923|UMLS:C0031575|SNOMEDCT_US:22841008 Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia). HP:0010825 Abnormality of the eleventh cranial nerve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010825 UMLS:C4021225 Abnormality of the accessory nerve|Abnormality of cranial nerve XI Abnormality of the eleventh cranial nerve. HP:0033509 EBV encephalitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033509 Epstein-Barr virus encephalitis Inflamation of the brain related to infection by Epstein-Barr virus. HP:0009828 Peromelia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009828 UMLS:C4024192 The distal parts of the limbs are missing leading to a stump formation. HP:0010824 Abnormal fifth cranial nerve morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010824 UMLS:C4021226 Abnormality of the nervus trigeminus|Abnormality of the fifth cranial nerve|Abnormal trigeminal nerve morphology Any structural abormality of the fifth cranial nerve. HP:0033508 EBV meningitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033508 Epstein-Barr virus meningitis Inflammation of the meninges related to infection by Epstein-Barr virus. HP:0009823 Aplasia involving bones of the upper limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009823 UMLS:C4024194 Absent bones of the upper limbs HP:0010823 Ridged cranial sutures biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010823 UMLS:C4023692 Cranial suture ridges An overlap of the bony plates of the skull in an infant, with or without early closure. HP:0033503 Elevated CSF fumarate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033503 An increased concentration of fumarate, an intermediate in the citric acid cycle, in the cebrebrospinal fluid. HP:0010822 Scintillating scotoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010822 UMLS:C0235068|SNOMEDCT_US:2228002|MSH:D012607 A scintillating scotoma is a common visual aura that can preced a migraine, whereby a spot of flickering light near the center of the visual fields occurs. The spot prevents vision, and is thus termed scotoma. The scotoma can extend into one or more shimmering arcs of white or colored flashing lights. HP:0009822 Aplasia involving forearm bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009822 UMLS:C4024195 Absent forearm bones HP:0033502 Abnormal esterified to free carnitine ratio biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033502 Any deviation from the normal ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine. HP:0010821 Focal emotional seizure with laughing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010821 MSH:D004828|SNOMEDCT_US:89525009|UMLS:C0270820 Gelastic seizure|Gelastic seizures 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'. HP:0033505 Livedo reticularis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033505 Livedo reticularis is characterized by the presence of a bluish purple, mottled or netlike pattern in unbroken circles on the skin. Exposure to cold environments usually intensifies the vascular pattern. Presumably, the condition results from slow or stagnant blood flow, vessel-wall pathology, and decreased oxygen tension. HP:0009825 Aplasia involving bones of the extremities biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009825 UMLS:C4024193 Absent bones of the extremities HP:0009824 Upper limb undergrowth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009824 UMLS:C1837406 Shortening of the arms|Short arms|Upper limb undergrowth|Hypoplasia involving bones of the upper limbs Arm shortening because of underdevelopment of one or more bones of the upper extremity. HP:0033504 Elevated circulating fumarate concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033504 An increased concentration of fumarate, an intermediate in the citric acid cycle, in the blood circulation. HP:0010820 Focal emotional seizure with crying biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010820 UMLS:C4023693 Dacrystic seizures|Dacrystic seizure Focal emotional seizure with crying (dacrystic) is characterized by the presence of stereotyped crying, this may be accompanied by lacrimation, sad facial expression and sobbing. The subjective emotion of sadness may or may not be present. HP:0009821 Forearm undergrowth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009821 UMLS:C1855299 Forearm undergrowth|Short forearms|Short forearm bones|Hypoplasia involving forearm bones|Shortened forearm Forearm shortening because of underdevelopment of one or more bones of the forearm. HP:0009820 Lower limb peromelia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009820 UMLS:C4024196 Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation. HP:0010829 Impaired temperature sensation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010829 UMLS:C4021222 Abnormality of temperature sensation|Impaired temperature sensation|Loss of temperature sensation A reduced ability to discriminate between different temperatures. HP:0010828 Hemifacial spasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010828 MSH:D019569|SNOMEDCT_US:13753008|UMLS:C0278152 Spasms on one side of the face|Hemifacial spasms Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions. HP:0033510 Cutaneous horn biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033510 Cornu cutaneum A cutaneous horn is a keratinized non-malignant protrusion on the surface of the skin. Diagnosis is established by biopsy of the horn and biopsy of the horn and the underlying skin. HP:0033512 Stimulant addiction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033512 Stimulant dependence 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. HP:0033511 Drug addiction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033511 Chronic compulsive drug seeking and continued use despite harmful consequences. HP:0033518 Methylphenidate addiction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033518 Methylphenidate dependence Addiction to methylphenidate. HP:0009838 Curved distal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009838 UMLS:C4024188 Curved outermost finger bone of the hand HP:0010816 Epidermal nevus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010816 MSH:C580062|UMLS:C0334082|SNOMEDCT_US:25201003|SNOMEDCT_US:239107007 Epidermal nevi Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood. HP:0008507 Static ophthalmoparesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008507 UMLS:C4024663 HP:0010815 Nevus sebaceous biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010815 SNOMEDCT_US:707136009|MSH:D054000|SNOMEDCT_US:239112008|SNOMEDCT_US:52298009|UMLS:C3854181 Sebaceous nevus|Organoid nevus|Sebaceous mole|Naevus sebaceous|Sebaceous naevus A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly. HP:0009837 Bullet-shaped distal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009837 UMLS:C4024189 Bullet-shaped outermost finger bone of the hand Short and wide distal phalanges that taper distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. HP:0033517 Heroid addiction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033517 Heroin dependence Addiction to heroin. HP:0010814 Abnormal position of hair whorl biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010814 UMLS:C4023694 Abnormal location of hair swirl|Abnormal position of hair whorl Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull. HP:0008509 Aged leonine appearance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008509 UMLS:C3550331 HP:0009839 Osteolytic defects of the distal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009839 UMLS:C1849547 Acroosteolysis of distal phalanges|Acro-osteolysis of distal phalanges|Osteolytic defects of the outermost finger bone of the hand HP:0010813 Abnormal number of hair whorls biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010813 UMLS:C4023695 Extra hair swirls|Abnormal number of hair whorls|Extra hair whorl|Supernumary hair swirls|Abnormal number of hair swirls|Double crown (hair whorls)|Supernumary hair whorl More than two clockwise hair whorls. HP:0033519 Methamphetamine addiction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033519 Methamphetamine dependence Addiction to methamphetamine. HP:0009834 Abnormal proximal phalanx morphology of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009834 UMLS:C4024190 Abnormality of the innermost finger bones of the hand|Abnormality of the proximal phalanges of the hand HP:0010812 Short uvula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010812 UMLS:C1401781 Short palatine uvula|Hypoplastic uvula|Blunt uvula Decreased length of the uvula. HP:0033514 Amphetamine addiction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033514 Dextroamphetamine dependence|Amphetamine dependence|Dextroamphetamine addiction Addiction to amphetamine or dextroamphetamine. HP:0009833 Abnormal middle phalanx morphology of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009833 UMLS:C4024191 Abnormality of the middle phalanges of the hand|Abnormality of the middle finger bones of the hand An anomaly of middle phalanx of finger. HP:0033513 Cocaine addiction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033513 Cocaine dependence Addiction to cocaine. HP:0010811 Narrow uvula biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010811 UMLS:C4023696 Thin uvula|Narrow palatine uvula Decreased width of the uvula. HP:0009836 Broad distal phalanx of finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009836 UMLS:C1850630 Spatulate terminal phalanges|Broad, square ends of distal phalanges|Broad outermost finger bone|Broad distal phalanges|Broad terminal phalanges|Broad distal phalanges of the hand|Broad distal phalanx Abnormally wide (broad) distal phalanx of finger. HP:0010810 Long uvula biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010810 UMLS:C4023697|UMLS:C4280362 Hyperplasia of uvula|Long palatine uvula|Elongated uvula Increased length of the uvula. HP:0033516 Benzodiazepine addiction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033516 Benzodiazepine dependence Addiction to a benzodiazepine. HP:0009835 Aplasia/Hypoplasia of the distal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009835 UMLS:C1861336 Aplastic/hypoplastic distal phalanges|Absent/hypoplastic distal phalanges|Absent/underdeveloped outermost finger bone of the hand|Aplasia/Hypoplasia of the distal phalanges|Hypoplastic/aplastic distal phalanges|Small or absent distal phalanges|Hypoplastic/aplastic distal phalanx|Absent/small outermost finger bone of the hand|Hypoplastic to absent terminal phalanges Absence or underdevelopment of the distal phalanges. HP:0033515 Opioid addiction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033515 Opioid dependence Addiction to opioids. HP:0008504 Moderate sensorineural hearing impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008504 UMLS:C4020798|UMLS:C4024664 Moderate neural deafness The presence of a moderate form of sensorineural hearing impairment. HP:0009830 Peripheral neuropathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009830 UMLS:C0031117|SNOMEDCT_US:42658009|UMLS:C0442874|SNOMEDCT_US:302226006|MSH:D010523|SNOMEDCT_US:386033004 Peripheral nerve damage|Neuropathy|Peripheral neuritis 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. HP:0008501 Median cleft lip and palate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008501 UMLS:C2750604 Midline cleft lip/palate|Medial cleft lip and palate|Wide midline cleft lip/palate|Central cleft lip and palate Cleft lip or palate affecting the midline region of the palate. HP:0009832 Abnormal distal phalanx morphology of finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009832 UMLS:C4021385 Abnormal terminal phalanges of the hand|Abnormality of the outermost finger bone|Abnormality of the distal phalanges of the hand|Abnormality of the distal phalanx of finger Any anomaly of distal phalanx of finger. HP:0009831 Mononeuropathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009831 SNOMEDCT_US:128189008|MSH:D020422|UMLS:C0494491 Single damaged nerve A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution. HP:0010819 Atonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010819 UMLS:C0270846|SNOMEDCT_US:189198006|SNOMEDCT_US:42365007|UMLS:C1836509 Astatic seizure|Hypotonic seizures|Astatic seizures|Drop seizures|Drop attacks|Sudden loss of muscle tone|Hypotonic seizure|Atonic seizures Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature. HP:0010818 Generalized tonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010818 UMLS:C1836508 Hypertonic seizures|Generalised tonic seizures|Generalised tonic seizure|Generalized hypertonic seizure|Generalized tonic seizures|Generalised hypertonic seizure A generalized tonic seizure is a type of generalized motor seizure characterised by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities. HP:0010817 Linear nevus sebaceous biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010817 UMLS:C3854181|SNOMEDCT_US:707136009|MSH:D054000|SNOMEDCT_US:239112008|SNOMEDCT_US:52298009 A type of nevus sebaceous with a linear form, raised borders and yellowish color. HP:0020208 Eating-induced seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020208 A seizure precipitated by aspects of anticipating food, eating itself, or the post-prandial period. HP:0020207 Reflex seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020207 Seizures precipitated by exogenous stimuli. HP:0009890 High anterior hairline biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009890 UMLS:C3276036 High frontal hairline Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella. HP:0020209 Hot water-induced seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020209 A seizure precipitated by pouring cupfuls of very hot water (40 to 50 degrees Celsius) in rapid succession over the head. Bathing in this manner is the most common trigger. HP:0020204 Tubulointerstitial bacterial infiltration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020204 Renal tubulointerstitial bacterial organisms Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains. HP:0020203 Z-band streaming biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020203 Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disc may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change. HP:0020206 Simple ear biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020206 The pinna has fewer folds and grooves than usual. HP:0020205 Tubulointerstitial fungal infiltration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020205 Renal tubulointerstitial fungal organisms Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains. HP:0010885 Avascular necrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010885 UMLS:C0085660|UMLS:C0877326|MSH:D010020|UMLS:C0520474|SNOMEDCT_US:72756009|SNOMEDCT_US:398199007|UMLS:C0029445|SNOMEDCT_US:240196003 Bone infarction|Aseptic bone necrosis|Ischemic bone necrosis|Death of bone due to decreased blood supply|Osteochondronecrosis|Aseptic necrosis|Osteonecrosis A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply. HP:0010884 Acromelia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010884 UMLS:C4023675 Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs. HP:0010883 Aortic valve atresia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010883 UMLS:C0265843|SNOMEDCT_US:51442005 Aortic atresia A congenital disorder of the aortic valve in which the orifice of the valve fails to develop. HP:0010882 Pulmonary valve atresia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010882 MSH:D018633|SNOMEDCT_US:204342004|SNOMEDCT_US:448564004|Fyler:1001|UMLS:C0242855 A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop. HP:0010881 Abnormality of the umbilical cord biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010881 UMLS:C0266785|SNOMEDCT_US:90009001 Umbilical cord issue An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta. HP:0010880 Increased nuchal translucency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010880 UMLS:C4023676 The presence of an abnormally large hypoechoic space in the posterior fetal neck (usually detected on prenatal ultrasound examination). HP:0010889 Morbus Kienboeck biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010889 SNOMEDCT_US:84062004|SNOMEDCT_US:367356000|UMLS:C0022682|SNOMEDCT_US:360466009|MSH:D010020 Lunatomalacia|Kienböck's disease|Kienboeck's disease Morbus Kienboeck is a Juvenile aseptic necrosis affecting the Os lunatum. HP:0009889 Localized hirsutism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009889 UMLS:C4024170 Localized abnormal hair growth|Localised hirsutism Abnormally increased hair growth with a localized distribution. HP:0009888 Abnormality of secondary sexual hair biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009888 UMLS:C4024171 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. HP:0007227 Macrogyria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007227 UMLS:C0266483|SNOMEDCT_US:23024003|MSH:D054082 Increased size of cerebral gyri, often associated with a moderate reduction in the number of sulci of the cerebrum. HP:0010888 Morbus Koehler biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010888 UMLS:C4023674 Morbus Koehler is a Juvenile aseptic necrosis affecting the Os naviculare pedis. HP:0008559 Hypoplastic superior helix biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008559 UMLS:C1865305 Underdeveloped superior helices HP:0010886 Osteochondritis Dissecans biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010886 UMLS:C0029421|SNOMEDCT_US:82562007|MSH:D010008 Osteochondrosis dissecans A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage. HP:0007229 Intracerebral periventricular calcifications biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007229 UMLS:C1837246 The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles. HP:0020200 Increased circulating 18-hydroxycortisone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020200 An abnormally elevated concentration of 18-Hydroxycorticosterone level in the blood circulation. HP:0008554 Cochlear malformation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008554 UMLS:C1862050 The presence of a malformed cochlea. HP:0009885 obsolete Prenatal short stature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009885 HP:0009884 Tapered distal phalanges of finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009884 UMLS:C1969237 Tapered distal phalanges|Tapered distal phalanges of the hand|Tapered outermost finger bone A reduction in diameter of the distal phalanx of finger towards the distal end. HP:0020202 Abnormal Z disc morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020202 Any structural anomaly of the Z disc, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. HP:0009887 Abnormality of hair pigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009887 UMLS:C4024172 Abnormality of hair color|Abnormality of hair pigmentation An abnormality of hair pigmentation (color). HP:0008555 Absent vestibular function biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008555 UMLS:C4024656 Complete lack of functioning of the vestibular apparatus. HP:0009886 Trichorrhexis nodosa biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009886 UMLS:C0263485|SNOMEDCT_US:238736006|SNOMEDCT_US:22486004 Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair. HP:0020201 Abnormal sarcomere morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020201 Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. HP:0009881 Aplasia of the distal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009881 UMLS:C4024173 Aplasia of outermost hand bone|Absent outermost hand bone|Absent distal phalanges of the hand HP:0009880 Broad distal phalanges of all fingers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009880 UMLS:C4024174 Broad outermost hand bones Abnormally wide (broad) distal phalanx of finger of all fingers. HP:0009883 Duplication of the distal phalanx of hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009883 UMLS:C1849343 Bifid terminal phalanges|Partial/complete duplication of the distal phalanges of the hand|Duplication of the outermost bone of hand|Notched outermost bone 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. HP:0007220 Demyelinating motor neuropathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007220 UMLS:C1969462 Demyelination of peripheral motor nerves. HP:0008551 Microtia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0008551 SNOMEDCT_US:35045004|MSH:D065817|UMLS:C0152423 Hypoplasia of the external ear|Underdeveloped ears|Small pinnae|Hypoplastic ears|Hypoplastic pinna|Small ears|Bilateral microtia Underdevelopment of the external ear. HP:0009882 Short distal phalanx of finger biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009882 UMLS:C1839829 Short outermost finger bone|Hypoplasia of the distal phalanges of the hand|Short distal phalanges|Hypoplastic distal phalanges|Distal phalangeal hypoplasia|Terminal phalangeal hypoplasia of hand|Brachytelophalangy|Hypoplastic terminal phalanges|Hypoplasic terminal phalanges|Hypoplasia of the distal phalanges 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. HP:0007221 Progressive truncal ataxia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007221 UMLS:C1849143 HP:0010874 Tendon xanthomatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010874 SNOMEDCT_US:69880002|UMLS:C0221253 Tendon xanthomas The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows). HP:0010873 Cervical spinal cord atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010873 UMLS:C0742191 Atrophy of the cervical segment of the spinal cord. HP:0010872 T-wave inversion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010872 SNOMEDCT_US:59931005|UMLS:C0520888 EKG: T-wave inversion An inversion of the T-wave (which is normally positive). HP:0010871 Sensory ataxia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010871 UMLS:C0037921|SNOMEDCT_US:445458007|SNOMEDCT_US:69131009|UMLS:C0240991|MSH:D001259 Afferent ataxia|Spinal ataxia|Ataxia, sensory Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms. HP:0010879 Postnatal cystic hygroma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010879 UMLS:C4023677 HP:0010878 Fetal cystic hygroma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010878 MSH:C537852|UMLS:C0948242 Foetal cystic hygroma The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm. HP:0008569 Microtia, second degree biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008569 UMLS:C4020794|UMLS:C4020797|UMLS:C4020793|UMLS:C4020694|UMLS:C4020796|UMLS:C4020792|UMLS:C4020795 Severe cupped ear, type III|Snail ear|Shell ear|Ear, grade II dysplasia|Constricted helix type IV|Cockleshell ear|Mini ear Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear. HP:0010877 Monocular strabismus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010877 UMLS:C4023678 Unilateral 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. HP:0008568 Vestibular areflexia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008568 SNOMEDCT_US:22443004|UMLS:C0235927|UMLS:C4015052 Vestibular ataxia Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography. HP:0009899 Prominent crus of helix biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009899 UMLS:C4021377 Hypertrophic helix crus|Helix, crus, prominent|Hyperplastic helix crus|Abnormal prominence of the crus of the ear The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix. HP:0007238 Nonarteriosclerotic cerebral calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007238 UMLS:C4021579 Cerebral calcification, nonarteriosclerotic HP:0010876 Abnormal circulating protein concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010876 UMLS:C4020763|UMLS:C4020764|UMLS:C4023679 Serum protein abnormality|Abnormal circulating protein level|Blood protein disease|Abnormality of circulating protein level An abnormal level of a circulating protein in the blood. HP:0007239 Congenital encephalopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007239 UMLS:C4024917 HP:0010875 Chaddock reflex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010875 SNOMEDCT_US:413813004|UMLS:C1531651 A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract. HP:0007233 Clusters of axonal regeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007233 UMLS:C1843169 Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration. HP:0009896 Abnormality of the antitragus biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009896 UMLS:C4024167 An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch. HP:0009895 Abnormality of the crus of the helix biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009895 UMLS:C4021380 Abnormality of the crus of the ear An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear. HP:0009898 Underdeveloped crus of the helix biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009898 UMLS:C4021378 Hypoplasia of the crus of the ear|Underdeveloped crus of the ear Developmental hypoplasia of the crus of the helix. That is, flatter and/or shorter crus helix than average. HP:0007236 Recurrent subcortical infarcts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007236 UMLS:C4024918 HP:0009897 Horizontal crus of helix biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009897 UMLS:C4021379 Horizontal orientation of the ear crus|Helix, crus, horizontal|Horizontal orientation of the crus of helix An abnormal horizontal axis orientation of the crus of the helix. That is, the main axis of the crus of the helix is perpendicular to the medial longitudinal axis of the ear, instead of sloping inferoposteriorly. HP:0009892 Anotia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009892 UMLS:C1408788|MSH:D065817|UMLS:C0702139|SNOMEDCT_US:57436000 Absent ear|Absent ears|Congenital absence of external ear Complete absence of any auricular structures. HP:0007230 Decreased distal sensory nerve action potential biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007230 UMLS:C4024920 A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies. HP:0009891 Underdeveloped supraorbital ridges biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009891 UMLS:C1861869|UMLS:C4020777 Flattened bony protrusion above eyes|Underdeveloped brows|Hypoplastic supraorbital ridges|Shallow supraorbital ridge|Shallow orbital ridges|Hypoplasia of supraorbital margins|Flat supraorbital margins|Hypoplasia of the supraorbital ridges|Flat supraorbital ridge|Depressed supraorbital margins|Depressed supraorbital ridge Flatness of the supraorbital portion of the frontal bones. HP:0009894 Thickened ears biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009894 UMLS:C4024168 Thickened ears Increased thickness of the external ear. HP:0009893 Telangiectasia of the ear biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009893 UMLS:C4024169 The presence of telangiectasia of the ear. HP:0007232 Spinocerebellar tract disease in lower limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007232 UMLS:C4024919 HP:0010863 Receptive language delay biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010863 SNOMEDCT_US:229736005|UMLS:C0454642 A delay in the acquisition of the ability to understand the speech of others. HP:0010862 Delayed fine motor development biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010862 UMLS:C4023681 A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands. HP:0010861 Incomplete breech presentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010861 MSH:D001946|SNOMEDCT_US:38049006|UMLS:C0426146 A kind of breech presentation in which one or both hips are extended and one or both of the fetus' feet are pointing down and entering the birth canal. HP:0010860 Complete breech presentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010860 SNOMEDCT_US:49168004|UMLS:C0233283|MSH:D001946 A kind of breech presentation in which the hips are flexed and the knees are flexed. HP:0007208 Irregular myelin loops biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007208 UMLS:C4024922 Presence of irregular redundant loops of focally folded myelin in a peripheral nerve. HP:0007209 Facial paralysis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0007209 SNOMEDCT_US:95666008|SNOMEDCT_US:280816001|MSH:D005158|UMLS:C0015469|UMLS:C0427055 Facial paresis|Facial paralysis Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve). HP:0010869 Asynergia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010869 SNOMEDCT_US:77743009|UMLS:C0234355 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. HP:0010868 Ocular dyssynergia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010868 UMLS:C4023680 A type of dyssynergia affecting eye movements and characterized by the inability to smoothly follow a visual target across the visual field. HP:0007204 Diffuse white matter abnormalities biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007204 UMLS:C4024923 HP:0010867 Dyssynergia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010867 MSH:D001259|SNOMEDCT_US:20262006|SNOMEDCT_US:39384006|UMLS:C0004134 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. HP:0010866 Abdominal wall defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010866 UMLS:C0238577 Congenital anterior abdominal wall defect|Abdominal wall defect An incomplete closure of the abdominal wall. HP:0010865 Oppositional defiant disorder biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010865 MSH:D019958|SNOMEDCT_US:18941000|UMLS:C0029121 An enduring pattern of uncooperative, defiant, and hostile behavior toward authority figures that does not involve major antisocial violations, is not accounted for by the child's developmental stage, and results in significant functional impairment. A certain level of oppositional behavior is common in children and adolescents. HP:0007206 Hemimegalencephaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007206 UMLS:C0431391|MSH:D065705|SNOMEDCT_US:253170008 Enlargement of all or parts of one cerebral hemisphere. HP:0010864 Intellectual disability, severe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010864 UMLS:C0036857|SNOMEDCT_US:40700009 Early and severe mental retardation|Mental retardation, severe|Severe mental retardation|Intellectual disability, severe Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34. HP:0008537 Cleft at the superior portion of the pinna biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008537 UMLS:C1865302 Cleft at the superior portion of the ear HP:0007207 Photosensitive tonic-clonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007207 UMLS:C1846131 Photosensitive tonic-clonic seizures|Seizures, tonic-clonic, photosensitive|Photically induced tonic-clonic seizure Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light. HP:0007200 Episodic hypersomnia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007200 UMLS:C4024925 HP:0007201 Cerebral artery atherosclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007201 UMLS:C4024924 Plaque build-up in cerebral artery Atherosclerosis (HP:0002621) of a cerebral artery. HP:0010852 EEG with photoparoxysmal response biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010852 UMLS:C3552821 Photoparoxysmal response on EEG EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns. HP:0010851 EEG with burst suppression biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010851 UMLS:C1969156 The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes. HP:0010850 EEG with spike-wave complexes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010850 UMLS:C4023683 Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). HP:0010859 Frank breech presentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010859 SNOMEDCT_US:18559007|MSH:D001946|UMLS:C0233286 A kind of breech presentation in which the hips are flexed and the knees are extended. HP:0010858 EEG with hyperventilation-induced epileptiform discharges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010858 UMLS:C4023682 Epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). HP:0010857 EEG with periodic abnormalities biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010857 UMLS:C4021211 EEG: periodic abnormalities Periodically recurring abnormalities in the EEG. HP:0007215 Periodic hyperkalemic paralysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007215 SNOMEDCT_US:304737009|UMLS:C0238357|MSH:D020513 Hyperkalemic periodic paralysis Episodes of muscle weakness associated with elevated levels of potassium in the blood. HP:0010856 EEG with periodic complexes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010856 UMLS:C4021212 EEG: periodic complexes|Radermecker complexes Periodically occurring generalized periodic complexes. HP:0009878 Cerebellar ataxia associated with quadrupedal gait biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009878 UMLS:C4024175 The presence of cerebellar signs and symptoms such as lack of balance associated with quadrupedal gait (locomotion on all four extremities with a 'bear-like' gait with the legs held straight). HP:0010855 EEG with localized low amplitude activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010855 UMLS:C4021213 EEG: localised low amplitude activity|EEG with localised low amplitude activity An abnormal localized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG). HP:0010854 EEG with generalized low amplitude activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010854 UMLS:C4021214 EEG with generalised low amplitude activity|EEG: generalised low amplitude activity An abnormal generalized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG). HP:0010853 EEG with periodic lateralized epileptiform discharges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010853 UMLS:C4021215 EEG: periodic lateralized epileptiform discharges Periodic lateralized epileptiform discharges (PLEDs)are periodic, lateralized, and epileptiform. PLEDs show a relatively constant interval between discharges (0.5 to 3 seconds). HP:0009879 Simplified gyral pattern biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009879 UMLS:C2749675 Cortical gyral simplification An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly. HP:0008542 Low-frequency hearing loss biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008542 UMLS:C0271514|SNOMEDCT_US:42538001 Low-frequency hearing loss A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz). HP:0008544 Abnormally folded helix biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008544 UMLS:C1970777 HP:0009875 Triangular shaped distal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009875 UMLS:C4024176 Triangular shaped outermost bone of the hand HP:0008541 Superiorly displaced ears biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008541 UMLS:C1850190 High set ears HP:0007210 Lower limb amyotrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007210 UMLS:C4024921 Muscular atrophy affecting the lower limb. HP:0009809 Abnormality of upper limb metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009809 UMLS:C4021388 Abnormality of the wide portion of upper limb bone|Metaphyseal abnormality of the upper limbs An anomaly of one or more metaphyses of the arms. HP:0009808 Anomaly of the upper limb diaphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009808 UMLS:C4021389 Abnormality of shaft of long bone of the upper limbs|Diaphyseal abnormality of the upper limbs|Abnormality involving the diaphyses of the upper limbs A structural abnormality of a diaphysis of the arm. HP:0010805 Upturned corners of mouth biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010805 UMLS:C3553471 Upturned oral commisures|Upturned corners of mouth|Upturned mouth Oral commissures positioned superior to the midline labial fissure. HP:0009805 Low-output congestive heart failure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009805 UMLS:C4024201 A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes. HP:0010804 Tented upper lip vermilion biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010804 UMLS:C1839767|UMLS:C1853383|UMLS:C1850072 Tented upper lip|Inverted V-shaped upper lip|Tented mouth Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base. HP:0009804 Reduced number of teeth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009804 UMLS:C4024202|UMLS:C4083050 Decreased number of teeth|Failure of development of some teeth|Reduced number of teeth|Fewer teeth than normal|Decreased tooth count|Missing some teeth|Tooth agenesis The presence of a reduced number of teeth as in Hypodontia or as in Anodontia. HP:0010803 Everted upper lip vermilion biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010803 UMLS:C4280363|UMLS:C4023698|UMLS:C3275452 Eclabium of upper lip|Everted upper lip|Protruding upper lip|Drooping upper lip|Outward turned upper lip|Everted prominent upper lip Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip. HP:0009806 Nephrogenic diabetes insipidus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009806 SNOMEDCT_US:111395007|MSH:D018500|UMLS:C0162283 A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP). HP:0010802 Perioral hyperpigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010802 UMLS:C4023699 Darkening of skin around the mouth|Increased pigmentation around the mouth Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips. HP:0010801 Underdeveloped nasolabial fold biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010801 UMLS:C4021227 Nasolabial crease, underdeveloped|Flat nasolabial fold|Nasolabial crease, hypoplastic|Shallow nasolabial fold|Nasolabial fold, hypoplastic Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure). HP:0010800 Absent cupid's bow biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010800 UMLS:C2053435 Absent cupid's bow|Agenesis of cupid's bow|Failure of development of cupid's bow|Missing cupid's bow|Aplasia of cupid's bow|Lack of cupid's bow Lack of paramedian peaks and median notch of the upper lip vermilion. HP:0009800 Maternal diabetes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009800 UMLS:C0085207|SNOMEDCT_US:11687002|UMLS:C4020778|MSH:D016640 Maternal diabetes|maternal hyperglycemia|gestational diabetes Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes. HP:0009803 Short phalanx of finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009803 UMLS:C0877165 Short finger bones|Rudimentary phalanges|Hypoplastic phalanges of hands|Hypoplastic phalanges|Shortened phalanges|Short phalanges|Phalangeal hypoplasia|Hypoplastic/small phalanges of the hand Short (hypoplastic) phalanx of finger, affecting one or more phalanges. HP:0009802 Aplasia of the phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009802 UMLS:C4280393|UMLS:C4024203 Absent finger bone of the hand Absence of one or more of the phalanges of the hand. HP:0010809 Broad uvula biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010809 UMLS:C3693299 Wide uvula Increased width of the uvula (subjective finding). HP:0010808 Protruding tongue biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010808 UMLS:C0241442|SNOMEDCT_US:285503005|SNOMEDCT_US:249872000 Tongue sticking out of mouth|Protruding tongue|Prominent tongue|Lingual prolapse|Lingual prominence|Lingual protrusion|Prolapse of tongue|Tongue protrusion Tongue extending beyond the alveolar ridges or teeth at rest. HP:0010807 Open bite biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010807 SNOMEDCT_US:35580009|MSH:D024343|UMLS:C0266061 Open bite|Open bite between upper and lower teeth|Absence of overlap of upper and lower teeth Visible space between the dental arches in occlusion. HP:0010806 U-Shaped upper lip vermilion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010806 UMLS:C1856202 Carp-shaped mouth|Carp-like mouth|Fish mouth|Large, carp-shaped mouth|Wide, carp-shaped mouth Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures. HP:0009819 Lower limb phocomelia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009819 SNOMEDCT_US:253963009|UMLS:C0265625 Phocomelia affecting only the lower limbs. HP:0009816 Lower limb undergrowth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009816 UMLS:C0345371|SNOMEDCT_US:253959002 Lower limb undergrowth|Underdeveloped lower limb bones|Hypoplasia of the lower limbs|Hypoplasia involving bones of the lower limbs Leg shortening because of underdevelopment of one or more bones of the lower extremity. HP:0009815 Aplasia/hypoplasia of the extremities biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009815 UMLS:C0239399 Absent/small extremities|Shortened limbs|Short or absent limbs|Absent/underdeveloped extremities Absence (due to failure to form) or underdevelopment of the extremities. HP:0009818 Amelia involving the lower limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009818 UMLS:C4024197 Amelia of one or both legs. HP:0009817 Aplasia involving bones of the lower limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009817 UMLS:C4024198 Absent bones of the lower limbs HP:0009812 Amelia involving the upper limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009812 UMLS:C4024200 Amelia of one or both upper limbs. HP:0009811 Abnormality of the elbow biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009811 UMLS:C4021386 Abnormality of the elbow|Abnormality of the elbows An anomaly of the joint that connects the upper and the lower arm. HP:0009814 Upper limb peromelia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009814 UMLS:C4024199 Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation. HP:0009813 Upper limb phocomelia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009813 SNOMEDCT_US:253926000|UMLS:C0265573 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). HP:0009810 Abnormality of upper limb joint biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009810 UMLS:C4021387 Abnormality of upper limb joint|Abnormality of the joints of the upper limbs HP:0032192 Hydatidiform mole biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032192 Hydatidiform mole (HM) is an aberrant human pregnancy with absence of, or abnormal embryonic development, hydropic degeneration of chorionic villi, and excessive proliferation of the trophoblast. HP:0032193 Decreased low-density lipoprotein particle size biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032193 An abnormal decrease in the average size of low-density lipoprotein particle size in the blood circulation. HP:0032195 Abnormal S wave biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032195 Any anomaly of the S wave, which is the third component of the QRS wave complex. The S wave signifies the final depolarization of the ventricles at the base of the heart. HP:0032190 Abnormal meniscus morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032190 Abnormal structure of the meniscus of the knee, two crescent shape fibrocartilaginous pads that disperse the weight of the body and reduce friction of the knee joint during movement. HP:0032191 Torn meniscus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032191 A tear in the cartilaginous pad (meniscus) of the knee. HP:0032196 Prominent S wave in lead I biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032196 Increased amplitude (0.1 mV or more) and/or duration (40 ms or more) of the S wave as measured in lead I of the electrocardiogram. HP:0032197 Deep S wave in lead V5 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032197 Abnormal depth of the S wave in lead V5 of the electrocardiogram. HP:0032198 Decreased prothrombin time biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032198 Decreased international normalized ratio|Decreased INR|Decreased PT Abnormally short time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT. HP:0032199 Abnormal prothrombin time biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032199 Abnormal PT Any deviation from the normal amount of time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT. HP:0020192 Pachygyria with 5-10 mm cortical thickness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020192 Pachygyria with a mildly thickend cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age. HP:0020191 Anterior predominant thick cortex pachygyria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020191 Pachygyria with cortical thickness > 10 mm anterior predominant Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes. HP:0020194 IgA heavy chain paraproteinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020194 Alpha heavy chain disease An abnormal IgA heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. HP:0020193 Prolonged reptilase time biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020193 An abnormally increased duration of the reptilase time. Reptilase time is a functional plasma clotting assay, which is based on the enzymatic activity of batroxobin. By specifically cleaving fibrinogen A from fibrinogen, batroxobin leads to the formation of a stable fibrin clot. The time, starting from the addition of batroxobin to the plasma sample, until clot formation is the reptilase time and is given in seconds. HP:0020190 Perisylvian predominant thick cortex pachygyria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020190 Pachygyria with cortical thickness > 10 mm perisylvian predominant Pachygyria with cortical thickness greater than 10 mm and a perisylvian predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Perisylvian predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria. HP:0020199 Decreased circulating 18-hydroxycortisone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020199 A subnormal concentration of 18-Hydroxycorticosterone level in the blood circulation. HP:0020196 IgM heavy chain paraproteinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020196 An abnormal IgM heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. HP:0020195 IgG heavy chain paraproteinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020195 Gamma heavy-chain disease An abnormal IgG heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. HP:0020198 Abnormal circulating 18-hydroxycorticosterone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020198 Any deviation from the normal concentration of 18-Hydroxycorticosterone level in the blood circulation. HP:0020197 Increased circulating arachidonic acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020197 Increased circulating arachidonate level|Increased circulating arachidonic acid level An increased circulation of arachidonic acid in the blood circulation. HP:0020181 Reduced haptoglobin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020181 An abnormally low concentration of haptoglobin in the blood circulation. Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. Decreased haptoglobin levels can also occur in the absence of hemolysis, due to cirrhosis of the liver, disseminated ovarian carcinomatosis, pulmonary sarcoidosis, and elevated estrogen state. HP:0020180 Elevated haptoglobin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020180 An abnormally high concentration of haptoglobin in the blood circulation. Haptoglobin is an acute-phase reactant whose levels can become elevated in the presence of infection and inflammation. HP:0020183 Increased circulating A-type natriuretic peptide level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020183 A measurable elevation in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure. HP:0020182 Abnormal A-type atrial natriuretic peptide level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020182 A measurable change in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure. HP:0020189 Posterior predominant thick cortex pachygyria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020189 Pachygyria with cortical thickness over 10 mm posterior predominant|Occipital predomimant classic pachygyria Pachygyria with cortical thickness above 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria. HP:0020188 Anterior predominant pachygyria with 5-10 mm cortical thickness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020188 Pachygyria with cortical thickness between 5 and 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically over 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria. HP:0020185 Superior cerebellar dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020185 Abnormal morphological development of the superior part of the cerebellum. HP:0020184 Decreased circulating A-type natriuretic peptide level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020184 A measurable reduction in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure. HP:0020187 Thick pachygyria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020187 Pachygyria with cortical thickness > 10 mm|Pachygyria with cortical thickness above 10 mm Pachygyria with a very thick cerebral cortex measuring 10-20 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age. HP:0020186 Multilobulated spleen biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020186 Multi-lobulated spleen The fetal spleen is lobulated, and these lobules normally disappear before the birth. Lobulation of the spleen may persist into adult life and be typically seen along the medial part of the spleen. A persisting lobule results in a variation in shape of the spleen. HP:0020170 Increased blood drug concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020170 Elevated serum drug concentrations|Increased serum drug concentration|Elevated blood drug concentration|Elevated plasma drug concentration|Increased plasma drug concentration High plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime. HP:0020172 Adverse drug response biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020172 Toxic drug response|Adverse drug reaction|Drug-induced reaction|Drug-induced response An unpleasant or harmful reaction resulting from treatment with a drug. HP:0020171 Decreased blood drug concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020171 Decreased plasma drug concentration|Reduced blood drug concentration|Reduced plasma drug concentration|Reduced serum drug concentrations|Decreased serum drug concentration Low plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime. HP:0020178 Abnormal dendritic cell count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020178 A deviation from the normal count of dendritic cells in the peripheral blood circulation. Dendritic cells are of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative). HP:0020177 Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020177 Abnormal proportion of effector memory CD8-positive, alpha-beta T cells, terminally differentiated An abnormal proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative. HP:0020179 Abnormal haptoglobin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020179 A deviation from the normal concentration of haptoglobin in the blood circulation. HP:0020174 Refractory drug response biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020174 Drug resistance Absent or significantly reduced efficacy of drug intervention characterized by lack of measurable benefit or deterioration of disease course. HP:0020173 Reduced drug efficacy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020173 Decreased drug efficacy Decreased response to a drug intervention in comparison to the expected response. HP:0020176 Cholesterol crystalluria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020176 HP:0020175 Reduced cholinesterase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020175 A decreased amount of cholinesterase in the blood circulation. HP:0033480 Hypobilirubinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033480 Decreased circulation of bilirubin in the blood circulation. HP:0032150 Paroxysmal rectal pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032150 Excruciating burning pain in the rectal area that may be triggered by defecation. HP:0033482 Limited shoulder flexion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033482 A reduced ability to flex the shoulder. Shoulder flexion is the motion that moves the arms from a resting position by the side of the body to a position above the head. HP:0032151 Episodic eosinophilia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032151 Recurrent episodes of marked eosinophilia that resolve spontaneously. HP:0033481 Limited lateral neck flexion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033481 Reduced range of motion resulting in decreased ability to move the ear toward the top of the shoulder. HP:0032156 Skin detachment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032156 Epidermal detachment|Detached skin|Skin sloughing Loss of sections of skin either spontaneously or after gentle handling. HP:0033488 Glomerular endocapillary leukocyte hypercellularity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033488 Glomerular endocapillary hypercellularity consisting of leukocytes Increased number of leukocytes internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries. HP:0032157 Recurrent genital herpes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032157 Recurrent episodes of genital herpes, typically characterized by stages of erythema, papules, short-lived vesicles, painful ulcers, and crusts on the skin of the genitals and surrounding area, and that typically resolve over a period of 2 to 3 weeks. HP:0033487 Glomerular basement membranes powdery deposit biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033487 Glomerular basement membranes with powdery deposit Punctate electron-dense material typically in a band-like distribution along the lamina rara interna and within tubular basement membranes within the subendothelial aspect of the glomerular basement membrane. HP:0032158 Unusual infection by anatomical site biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032158 An unusual infection classified by the affected body part. HP:0032159 Fungal meningitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032159 An infection of the meninges caused by a fungus. Generally, only individuals with deficiencies of the immune system contract fungal meningitis. HP:0033489 Glomerular endocapillary neutrophil hypercellularity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033489 Increased number of neutrophils internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries. HP:0032152 Keratosis pilaris biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032152 Chicken skin|Carpet tack sign|Hyperkeratosis pilaris|Follicular plugging|Follicular keratotic plug|Lichen pilaris|Follicular keratosis An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs. HP:0033484 Elevated circulating linoleylcarnitine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033484 Elevated plasma linoleylcarnitine, C18:2 Increased concentration of linoleylcarnitine in the blood circulation. HP:0033483 Podocyte infolding biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033483 Folding of cytoplasmic processes of podocytes into the glomerular basement membrane (GBM) with thickening of the lamina densa and microspheres and/or microtubular structures within the GBM. HP:0032153 Joint subluxation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032153 A partial dislocation of a joint. HP:0033486 Abnormal glomerular basement membrane texture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033486 Anomalous appearance or structure of the surface of the glomerular basement membrane. HP:0032154 Aphthous ulcer biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032154 Canker sore Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. HP:0033485 Glomerular basement membrane disruption biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033485 Disruption of the glomerular basement membrane|Glomerular basement membrane rupture A point of rupture in the glomerular basement membrane (GBM) where the discontinuous portions of GBM are still identifiable with a basement membrane stain such as Periodic acid Schiff (PAS) or silver. HP:0032155 Abdominal cramps biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032155 A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity. HP:0033491 Global mesangial sclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033491 A generalized global (over 80%) increase of mesangial matrix that is present throughout the mesangial stalk (with or without associated mesangial hypercellularity). HP:0033490 Glomerular endocapillary foam-cell hypercellularity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033490 Presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in the glomerulus often occupying the endocapillary space. HP:0032160 Cryptococcal meningitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032160 A type of fungal meningitis caused by an encapsulated yeast that belongs to the genus Cryptococcus. Cryptococcus neoformans and Cryptococcus gattii are responsible for the majority of cases of human cryptococcosis. HP:0033493 Mesangial matrix expansion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033493 Increased glomerular mesangial matrix Increased mesangial extracellular material with interspace width of over 2 mesangial cell nuclei, in one or more peripheral mesangial areas. HP:0032161 Coccidioidal meningitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032161 A type of fungal meningitis caused by dissemination of coccidioides to basilar meninges. HP:0032162 Unusual skin infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032162 A type of infection of the skin that can be regarded as a sign of a pathological susceptibility to infection. HP:0033492 Podocyte cytoskeletal condensation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033492 Reorganization of podocyte cytoskeletal proteins at the glomerular basement membrane (GBM) aspect of the cell, with associated cytoplasmic electron density at the GBM aspect of the podocyte. HP:0033499 Glomerular basement membrane electron dense deposits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033499 Electron-dense deposits in the lamina densa with a ribbon or a sausage structure. HP:0032167 Clostridium difficile enteritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032167 C. difficile enteritis An infection of the small intestine (enteritis) by clostridium difficile. HP:0032168 Clostridium difficile colitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032168 An infection of the colon (colitis) by clostridium difficile. HP:0033498 Segmental glomerulosclerosis away from the vascular and tubular poles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033498 Segmental solidification of the glomerular tuft characterized by increased extracellular matrix, causing glomerular capillary obliteration at neirhter the tubular or vascular poles. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed. HP:0032169 Severe infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032169 Unusual course of infection A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection. HP:0032163 Molluscum contagiosum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032163 Molluscum contagiosum is a cutaneous viral infection that is commonly observed in both healthy and immunocompromised children. The infection is caused by a member of the Poxviridae family, the molluscum contagiosum virus. Molluscum contagiosum presents as single or multiple small white or flesh-colored papules that typically have a central umbilication. The central umbilication may be difficult to observe in young children and, instead, may bear an appearance similar to an acneiform eruption. The lesions vary in size (from 1 mm to 1 cm in diameter) and are painless, although a subset of patients report pruritus in the area of infection. On average, 11-20 papules appear on the body during the course of infection and generally remains a self-limiting disease. However, in immunosuppressed patients, molluscum contagiosum can be a severe infection with hundreds of lesions developing on the body. Extensive eruption is indicative of an advanced immunodeficiency state. HP:0033495 Segmental glomerulosclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033495 Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration and can include hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman capsule. HP:0032164 Increased blood folate concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032164 An elevated circulating concentration of folic acid, which is also known as vitamin B9. HP:0033494 Glomerular basement membrane amyloid spicule biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033494 Amyloid spicules are projections of typically silver-positive material from the outer aspect of the glomerular capillary wall, perpendicular to the glomerular basement membrane (GBM), most often caused by amyloidosis with the latter confirmed by additional stains. HP:0032165 Placental mesenchymal dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032165 Placental mesenchymal dysplasia is an abnormality of the stem villi of the placenta that may be mistaken for a hydatidiform mole, and in particular, partial mole, owing to the mixture of cysts and normal-appearing parenchyma. The stem (anchoring) villi form as outgrowths of the chorionic plate early in placentogenesis and give rise to the branching villous trees. HP:0033497 Tip variant segmental glomerulosclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033497 Segmental glomerulosclerosis, tip variant Segmental solidification of the glomerular tuft characterized by an adhesion at the tip of the glomerular tuft abutting the proximal tubular taek-off can be accompanied by increased extracellular matrix, causing glomerular capillary obliteration at the glomerular tip. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed. HP:0033496 Perihilar segmental glomerulosclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033496 Segmental glomerulosclerosis, perihilar pattern Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration is present at the vascular pole, involving less than 50% of the tuft. It can be accompanied by other descriptors such as hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman's capsule. HP:0032166 Unusual gastrointestinal infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032166 Unusual GI infection HP:0032170 Severe varicella zoster infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032170 An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterised by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella. HP:0032171 Bladder pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032171 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the urinary bladder. Bladder pain may be more pronounced with a full bladder and relieved upon urination, but this is not always the case. HP:0032172 Air crescent sign biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032172 A crescent of air surrounding a soft-tissue mass in a pulmonary cavity and can be seen in both plain X-ray and CT scan. HP:0032173 Continuous diaphragm sign biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032173 This sign is seen in pneumomediastinum in which air accumulates between the lower border of the heart and the superior part of the diaphragm, which results in complete visualization of the diaphragm in chest X-ray, hence named continuous diaphragm sign. HP:0032178 Flaky paint dermatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032178 Flaky paint skin appearance A dermatosis characterized by generalized shiny, enamel-like, hyperpigmented scales in an irregular pattern. The scales may peel or desquamate, rather like old, sun-baked blistered paint, often with areas of underlying hypopigmentation. This has led to the terms peeling paint or flaky paint dermatosis (See the Figure in PMID:24285001). HP:0032179 Abnormal circulating globulin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032179 An abnormal concentration of globulins in the blood. Albumin makes up more than half of the total protein present in serum. The remaining blood proteins except albumin and fibrinogen (which is not in serum) are referred to as globulins. The globulin fraction includes hundreds of serum proteins including carrier proteins, enzymes, complement, and immunoglobulins. Most of these are synthesized in the liver, although the immunoglobulins are synthesized by plasma cells. Globulins are divided into four groups by electrophoresis. The four fractions are alpha1, alpha2, beta and gamma, depending on their migratory pattern between the anode and the cathode. HP:0032174 Tree-in-bud pattern biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032174 The tree-in-bud pattern represents centrilobular branching structures that resemble a budding tree. The pattern reflects a spectrum of endo- and peribronchiolar disorders, including mucoid impaction, inflammation, and/or fibrosis (See Figure 70 of PMID:18195376). HP:0032175 Signet ring sign biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032175 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. HP:0032176 Apical pulmonary opacity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032176 Apical pleural thickening|Apical cap An apical cap is a caplike lesion at the lung apex, usually caused by intrapulmonary and pleural fibrosis pulling down extrapleural fat or possibly by chronic ischemia resulting in hyaline plaque formation on the visceral pleura. The prevalence increases with age. It can also be seen in hematoma resulting from aortic rupture or in other fluid collection associated with infection or tumor, either outside the parietal pleura or loculated within the pleural space. HP:0032177 Parenchymal consolidation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032177 Consolidation refers to an exudate or other product of disease that replaces alveolar air, rendering the lung solid (as in infective pneumonia). HP:0032181 Anomalous hepatic venous drainage into the left atrium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032181 An abnormality of the hepatic veins, which normally drain de-oxygenated blood from the liver into the inferior vena cava, whereby the hepatic veins drain into the left atrium. HP:0032182 Abnormal proportion of memory T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032182 Abnormal proportion of CD4+CD29+ 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. HP:0032183 Decreased proportion of memory T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032183 Decreased proportion of CD4+CD29+ cells An abnormally reduced proportion of memory T cells compared to the total number of T cells in the blood. HP:0032184 Increased proportion of memory T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032184 Increased proportion of CD4+CD29+ cells An abnormally elevated proportion of memory T cells compared to the total number of T cells in the blood. HP:0032180 Abnormal circulating metabolite concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032180 An abnormal level of an analyte measured in the blood. HP:0032189 Cellular hypersensitivity to diepoxybutane biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032189 An increased cellular sensitivity to the DNA cross-linking agent, diepoxybutane (DEB). In the presence of increased sensitivity, DEB causes cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle. HP:0032185 Disseminated molluscum contagiosum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032185 The presense of molluscum contagiosum lesions across multiple areas of the body. HP:0032186 Anal neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032186 A benign or malignant neoplasm that affects the anal canal or anal margin. HP:0032187 Anal intraepithelial neoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032187 Anal intraepithelial neoplasia (AIN) is a premalignant lesion of the anal mucosa that is a precursor to anal cancer. HP:0032188 Cellular hypersensitivity to mitomycin C biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032188 An increased cellular sensitivity to the DNA cross-linking agent, mitomycin C (MMC). In the presence of increased sensitivity, MMC causes increased cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle. HP:0007390 Hyperkeratosis with erythema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007390 UMLS:C4024891 HP:0006060 Tombstone-shaped proximal phalanges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006060 UMLS:C1862420 Tombstone-shaped innermost digital bones HP:0007392 Excessive wrinkled skin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007392 UMLS:C4024890 Excessive wrinkled skin HP:0031023 Multiple mucosal neuromas biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031023 NCIT:C6559 Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. Histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath. HP:0032355 Decreased peak expiratory flow biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032355 A reduction in the maximum expiratory flow per minute, which can be used to measure how fast a subject can exhale as well as to judge the strength of the expiratory muscles and the condition of the large airways. HP:0031024 Cylindroma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031024 A benign skin adnexal tumor of eccrine differentiation. HP:0032356 Decreased pre-bronchodilator forced vital capacity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032356 Decreased pre bronchodilator forced vital capacity|Decreased prebronchodilator forced vital capacity An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed before the administration of a bronchodilating medication. HP:0031025 Gastric leiomyosarcoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031025 A malignant neoplasm of the stomach that grows submucosally in the gastric wall. Necrosis and hemorrhage may be visible radiologically. Histologically, spindle cells with abnormal mitotic activity may be visible. HP:0031026 Snail-like ilia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031026 Schneckenbecken dysplasia|Snail-like pelvis|Snail-shaped ilia The ilia is round and hypoplastic with a very flat acetabular roof and a very unusual medial projection of bone that is said to resemble the head of a snail. Figure 4 of PMID:3799723 illustrates this feature. HP:0032357 Decreased post-bronchodilator forced vital capacity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032357 Decreased postbronchodilator forced vital capacity|Decreased post bronchodilator forced vital capacity An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed after the administration of a bronchodilating medication. HP:0032350 Sulfocysteinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032350 A increased concentration of sulfocysteine in the urine. HP:0032351 Phenylalaninuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032351 Increased level of phenylalanine in urine Increased level of phenylalanine in urine. HP:0031020 Bone marrow hypercellularity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031020 A larger than normal amount or percentage of hematopoietic cells relative to marrow fat. HP:0031021 Squamous Papilloma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031021 NCIT:C3712 A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy [NCI thesaurus]. HP:0032352 Methioninuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032352 Increased level of methionine in urine. HP:0031022 Oropharyngeal squamous papilloma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031022 NCIT:C6038 A benign exophytic neoplasm that arises from the oropharynx. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium [NCI thesaurus]. HP:0032353 Leucinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032353 Increased level of leucine in urine. HP:0032358 Decreased post-bronchodilator forced expiratory volume in one second biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032358 Decreased post bronchodilator forced expiratory volume in one second|Decreased postbronchodilator forced expiratory volume in one second An abnormal reduction in the amount of air a person can forcefully expel in one second, with the test being performed after the administration of a bronchodilating medication. HP:0031027 Internal notch of the femoral head biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031027 A small V-shaped indentation on the internal aspect of the femoral head. This feature is well illustrated in Figure 5 of PMID:11694546. HP:0032359 Decreased forced expiratory flow 25-75% biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032359 Decreased FEF25-75% 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. HP:0031028 Lactescent serum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031028 Plasma lactescence|Milk-like serum Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level. HP:0031029 Elevated carcinoembryonic antigen level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031029 Increased plasma CEA An increased blood concentration of the carcinoembryonic antigen (CEA). CEA is a member of the immunoglobulin supergene family. The human CEA gene family is clustered on chromosome 19q and comprises 29 genes. CEA is highly expressed in embryonic tissue and in some cancers, and is a widely used tumor marker. HP:0007387 Hypoplastic sweat glands biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007387 UMLS:C1832455 Underdeveloped sweat glands Underdevelopment of the sweat glands. HP:0006059 Cone-shaped metacarpal epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006059 UMLS:C1855239 Metacarpal cone-shaped epiphyses|Cone-shaped end part of long bone A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones. HP:0007383 Congenital localized absence of skin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007383 UMLS:C2673597 Congenital localized skin absence|Congenital localised absence of skin HP:0007384 Aberrant melanosome maturation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007384 UMLS:C1969516 HP:0007385 Aplasia cutis congenita of scalp biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0007385 UMLS:C1855698|UMLS:C4048801|UMLS:C4072858|UMLS:C4072857 Scalp aplasia cutis congenita|Focal absence of scalp tissue|Defect of scalp|Solitary scalp defect|Scalp defect A developmental defect resulting in the congenital absence of skin on the scalp. HP:0006055 Ulnar deviated club hands biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006055 UMLS:C1833881 HP:0006070 Metacarpophalangeal joint contracture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006070 UMLS:C2677209 Metacarpal/phalangeal joint contractures A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. HP:0032360 Decreased pre-bronchodilator forced expiratory flow 25-75% biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032360 Decreased pre bronchodilator forced expiratory flow 25-75%|Decreased pre-bronchodilator FEF25-75%|Decreased prebronchodilator forced expiratory flow 25-75% A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed before the administration of a bronchodilating medication. HP:0032365 Exacerbated by aspirin ingestion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032365 Applied to a sign or symptom that is worsened by ingestion of aspirin. HP:0031034 Abnormal insulin like growth factor binding protein acid labile subunit level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031034 A deviation from the normal blood concentration of the insulin like growth factor binding protein acid labile subunit (IGFALS; Entrez Gene ID 3483). The acid-labile subunit (IGFALS) acts in the insulin-like growth (IGF) system by binding circulating IGF1 in a ternary complex with binding protein (IGFBP)-3 to prevent IGF1 from crossing the endothelial barrier. HP:0032366 Positive direct antiglobulin test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032366 A positive result of the direct antiglobulin test (DAT), a method of demonstrating the presence of antibody or complement bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction. HP:0031035 Chronic infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031035 Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection. HP:0032367 Abnormal growth hormone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032367 Abnormal somatotropin level Any deviation from the normal level of growth hormone (GH) in the blood circulation. GH or somatotropin is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration. Its secretion from the pituitary is regulated by the neurosecretory nuclei of the hypothalamus, which can release Growth hormone-releasing hormone (GHRH or somatocrinin) and Growth hormone-inhibiting hormone (GHIH or somatostatin) into the hypophyseal portal venous blood surrounding the pituitary. GH is secreted in a pulsatile manner, which is one of the reasons why an isolated measurement of its blood concentration is not meaningful. HP:0031036 Reduced growth-hormone binding protein level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031036 Decreased plasma GH-binding protein A decreased blood concentration of growth hormone binding protein. HP:0032368 Acidemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032368 An abnormally low blood pH (usually defined as less than 7.35). HP:0031037 Reduced insulin-like factor 3 level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031037 Reduced plasma INSL3 level Blood concentration of insulin-like factor 3 (ILF3) is below normal limits. HP:0032361 Decreased post-bronchodilator forced expiratory flow 25-75% biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032361 Decreased post bronchodilator forced expiratory flow 25-75%|Decreased postbronchodilator forced expiratory flow 25-75%|Decreased post-bronchodilator FEF25-75% A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed after the administration of a bronchodilating medication. HP:0031030 Elevated carcinoma antigen 125 level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031030 Increased plasma CA125 An increased blood concentration of carcinoma antigen 125 (CA-125). CA-125, also known as mucin 16, can exhibit increased blood levels in certain types of cancer. HP:0032362 Increased circulating corticosterone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032362 An abnormally elevated concentration of corticosterone in the blood. HP:0031031 Abnormal retinol-binding protein level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031031 A deviation from normal blood concentration of retinol-binding protein (RBP). The most commonly used indicator of vitamin A status is the serum retinol concentration (retinol is one of the several compounds known as vitamin A). The serum RBP concentration is used as a surrogate measure for serum retinol. HP:0032363 Decreased circulating corticosterone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032363 An abnormally reduced concentration of corticosterone in the blood. HP:0031032 Decreased retinol-binding protein level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031032 A reduced blood concentration of retinol-binding protein. This finding predicts vitamin A deficiency with high sensitivity and specificity. HP:0031033 Impaired urinary acidification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031033 Renal acidification defect The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect. HP:0032364 obsolete Abnormal CSF amino acid level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032364 HP:0031038 Spermatogenesis maturation arrest biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031038 Meiotic maturation arrest of spermatogenesis Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa. HP:0032369 Alkalemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032369 An abnormally high blood pH (usually defined as 7.41 or above). HP:0031039 Early spermatogenesis maturation arrest biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031039 A type of maturation arrest in which only spermatogonia or spermatocytes are found. HP:0006067 Multiple carpal ossification centers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006067 UMLS:C1835573 Multiple carpal ossification centres A delay in the process of formation and maturation of the epiphysis of one or more long bones. HP:0007398 Asymmetric, linear skin defects biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007398 UMLS:C4024888 HP:0006069 Severe carpal ossification delay biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006069 UMLS:C1866703|UMLS:C4280466 Severe delay in maturation of wrist bone HP:0007394 Prominent superficial blood vessels biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007394 UMLS:C1848771 Prominent superficial blood vessels|Prominent superficial vasculature HP:0007395 Postnatal-onset ichthyosiform erythroderma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007395 UMLS:C4021576 Postnatal-onset ichthyosis A type of ichthyosiform erythroderma with postnatal onset. HP:0006064 Limited interphalangeal movement biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006064 UMLS:C1840089 Limited movement of hinge joints HP:0007396 Early cutaneous photosensitivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007396 UMLS:C4024889 Sun sensitivity occurring early in life Photosensitivity of the skin occurring early in life. HP:0007397 Axillary apocrine gland hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007397 UMLS:C1867003 Developmental hypoplasia of the apocrine sweat glands in the region of the axilla. HP:0032370 Blood group A biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032370 ABO phenotype A, corresponding to the genotype AO or AA. HP:0007370 Aplasia/Hypoplasia of the corpus callosum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007370 UMLS:C1861866 Agenesis/hypoplastic corpus callosum|Complete or partial absence of the corpus callosum|Absent/hypoplastic corpus callosum|Hypoplastic or absent corpus callosum|Hypoplasia or absence of the corpus callosum Absence or underdevelopment of the corpus callosum. HP:0007371 Corpus callosum atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007371 UMLS:C0431370|SNOMEDCT_US:253142006 Atrophic corpus callosum|Atrophy/Degeneration of the corpus callosum|Atrophy of the corpus callosum The presence of atrophy (wasting) of the corpus callosum. HP:0031040 Late spermatogenesis maturation arrest biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031040 Maturation arrest of spermatogenesis at spermatid stage A type of maturation arrest in which spermatids are detected without spermatozoa. HP:0032371 Isoleucinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032371 Hyperisoleucinuria An increased concentration of isoleucine in the urine. HP:0006040 Long second metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006040 UMLS:C1861531 Long 2nd long bone of hand HP:0032376 Anti-beta 2 glycoprotein I antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032376 Anti-B2GPI positivity Presence of antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome (APS). HP:0031045 Acral blistering biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031045 Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet) HP:0032377 Increased urinary orosomucoid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032377 Increased urinary alpha-1-acid glycoprotein An increased concentration in the urine of alpha-1-acid glycoprotein (AGP), also known as orosomucoid (ORM). AGP is a 41-43-kDa glycoprotein with a pI of 2.8-3.8. AGP is an acute-phase protein that has many activities including, but not limited to, acting as an acute-phase reactant and disease marker, modulating immunity, binding and carrying drugs, maintaining the barrier function of capillary, and mediating the sphingolipid metabolism. HP:0031046 Absent soft palate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031046 Agenesis of the soft palate A developmental defect characterized by lack of a soft palate. HP:0032378 Immediate-type hypersensitivity drug reaction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032378 Hypersensitivity that is observed within 1 hr of exposures. A variety of adverse reactions can occur within minutes to hours of exposure to a drug. Some can be related to the pharmacological action of the drug (WHO Adverse Reaction Terminology type A for augmented) and usually have a low mortality. Others are not readily predictable based on the structure and pharmacological action of the drug and have a relatively high mortality risk (Type B for bizarre). The most serious form of immediate onset drug hypersensitivity reaction, anaphylaxis. Other reactions including itching,dizziness/light-headedness, nausea, chest discomfort but without any objective skin features, physical signs or physiological compromise. Skin only reactions include generalized erythema, urticaria or angioedema without any sentinel features (see below) of other organ involvement. HP:0031047 Paraproteinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031047 Monoclonal hypergammaglobulinemia 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. HP:0031048 Light-chain paraproteinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031048 An abnormal immunoglobulin light chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. HP:0032379 Polymorphous light eruption biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032379 Sun allergy The cardinal symptom is severely pruritic skin lesions. Macular, papular, papulovesicular, urticarial, multiforme- and plaque-like variants are differentiated morphologically, hence the name polymorphous. Usually one morphology dominates in a single individual (monomorphous). The skin lesions develop a few hours to several days after sun exposure. Initially, patchy erythema develops, accompanied by pruritus. Distinct lesions then develop. The upper chest, upper arms, backs of the hands, thighs, and the sides of the face are the primary localizations. The skin lesions resolve spontaneously within several days of ceasing sun exposure and do not leave behind any traces. HP:0031041 Obstruction of the superior vena cava biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031041 Superior vena cava obstruction|Superior vena cava syndrome Blockage of blood flow through the superior vena cava (SVC). Because the venous drainage from the upper extremities, upper thorax and head is obstructed, SVC obstruction presents with symptoms related to engorgement of these areas. Both the degree of SVC compromise and the extent of collateral veins determine the varied clinical presentation, which can be as mild as slight facial and upper extremity edema or as dire as intracranial swelling, seizures, hemodynamic instability and tracheal obstruction. HP:0032372 Increased peripheral blast count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032372 Elevated circulating blasts|Increased peripheral myeloblast count|Elevated blast count An increased count in the peripheral blood of cells that are precursors to mature circulating blood cells such as neutrophiles, monocytes, lymphocutes, and erythrocytes. Blasts are not usually found in significant numbers in the peripheral blood circulation, but can be observed in hematopoietic neoplasms such as leukemia, severe infections, and as a result of certain medications. HP:0032373 Duffy blood group biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032373 The Duffy blood group system is based on the presence of a glycoprotein termed Fy that is on the surface of erythrocytes and some other cells. There are two Duffy antigens named Fya and Fyb, and thus there are four Duffy phenotypes: a+b+, a+b-, a-b+,a-b-. HP:0031042 Strawberry tongue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031042 Raspberry tongue Inflammed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry. HP:0032374 Duffy Fya positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032374 Presence of the Duffy Fya antigen. HP:0031043 Type A4 brachydactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031043 A type of brachydactyly characterized by brachymesophalangy affecting mainly the 2nd and 5th digits. HP:0032375 Duffy Fyb positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032375 Presence of the Duffy Fyb antigen. HP:0031044 Type A5 brachydactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031044 A type of brachydactyly characterized by absent middle phalanges of digits 2 to 5. HP:0031049 Heavy-chain paraproteinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031049 An abnormal immunoglobulin heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. HP:0007369 Atrophy/Degeneration affecting the cerebrum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007369 UMLS:C4024898 The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain. HP:0007365 Aplasia/Hypoplasia involving the corticospinal tracts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007365 UMLS:C4024901 HP:0008697 Hypoplasia of the fallopian tube biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008697 UMLS:C1968706 Rudimentary fallopian tubes|Underdeveloped fallopian tube Developmental hypoplasia of the fallopian tube. HP:0007366 Atrophy/Degeneration affecting the brainstem biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007366 UMLS:C4024900 Brainstem atrophy HP:0006035 Cone-shaped epiphyses of phalanges 2 to 5 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006035 UMLS:C1857005 Cone-shaped end part of digital bones 2 to 5 HP:0008696 Renal hamartoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008696 UMLS:C1840396 A disordered proliferation of mature tissues that are native to the kidneys. HP:0007367 Atrophy/Degeneration affecting the central nervous system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007367 UMLS:C4024899 Atrophy/Degeneration affecting the CNS HP:0007361 Abnormality of the pons biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007361 UMLS:C4024905 An abnormality of the pons. HP:0007362 Aplasia/Hypoplasia of the brainstem biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007362 UMLS:C4024904 Absent/small brainstem|Absent/underdeveloped brainstem HP:0007363 Aplasia/Hypoplasia of the pyramidal tract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007363 UMLS:C4024903 HP:0008695 Transient nephrotic syndrome biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008695 UMLS:C4024638 Transient nephrosis HP:0007364 Aplasia/Hypoplasia of the cerebrum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007364 UMLS:C4024902 Absent/underdeveloped cerebrum|Absent/small cerebrum HP:0008694 obsolete Hypertrophic labia minora biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008694 HP:0007380 Facial telangiectasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007380 UMLS:C0858684 Telangiectasia, facial|Facial telangiectatic vessels Telangiectases (small dilated blood vessels) located near the surface of the skin of the face. HP:0007381 Congenital exfoliative erythroderma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007381 UMLS:C4024892 HP:0031050 Whole-immunoglobulin paraproteinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031050 An abnormal immunoglobulin (heavy and light chain) in the circulation and typically produced by a clonal population of B-cell derived plasma cells. HP:0032381 Hydroa vacciniforme biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032381 Acute vesiculation and crusting and scarring following sun exposure In response to the spring sun distinct inflamed reddened skin develops on the ears, nose, cheeks, fingers, backs of the hands, and the lower arms, on which blisters with serous or hemorrhagic content develop. These dry out with the formation of a blackish scab. After shedding of the scab, depressed, varioliform, often hypopigmented scars remain. In addition, hyper- and hypopigmentation are present together, resulting in a polymorphous skin presentation. HP:0032382 Uniparental disomy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032382 Inheritance of both homologues of a chromosome pair from the same parent. HP:0006051 Metacarpal periosteal thickening biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006051 UMLS:C1834347 HP:0031051 Tarsal sclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031051 An elevation in bone density in one or more tarsal bones of the foot. Sclerosis is normally detected on a radiograph as an area of increased opacity. HP:0032387 Reduced circulating transferrin concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032387 Reduced transferrin level An abnormally decreased concentration of transferrin in the blood circulation. HP:0031056 Fusiform cerebral aneurysm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031056 Intracranial fusiform aneurysm A localized circumferential (i.e., bulges on all sides) dilatation or ballooning of a cerebral artery. HP:0032388 Periventricular nodular heterotopia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032388 Nodules of heterotopia along the ventricular walls. There can be a single nodule or a large number of nodules, they can exist on either or both sides of the brain at any point along the higher ventricle margins, they can be small or large, single or multiple. HP:0031057 Skin fissure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031057 Cracked skin A clearly-defined and roughly linear cleavage in the skin that usually extends to the dermis. HP:0032389 Periventricular laminar heterotopia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032389 A large mass of heterotopia in a laminar configuration along the ventricular walls. Usually bilateral. HP:0031058 Impairment of activities of daily living biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031058 Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure. HP:0031059 Impaired ability to bathe oneself biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031059 This term applies to an individual who requires help to bathe more than one part of the body, get in or out of the tub or shower, or who requires total bathing. HP:0031052 Elevated vascular endothelial growth factor level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031052 Increased blood concentration of vascular endothelial growth factor (VEGF). HP:0032383 Uniparental heterodisomy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032383 A type of uniparental disomy in which the two different chromosomes (or chromosome segments) of the same parent are transmitted. HP:0031053 Coarctation in the transverse aortic arch biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031053 Narrowing or constriction of the aorta localized to the region of the transverse aortic arch. HP:0032384 Uniparental isodisomy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032384 A type of uniparental disomy in which the two identical chromosomes (or chromosome segments) of the same parent are transmitted. HP:0032385 Abnormal circulating transferrin concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032385 Abnormal circulating transferrin level Any deviation from the normal concentration of transferrin in the blood circulation. HP:0031054 Long segment coarctation of the aorta biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031054 Coarctation of the aorta is a narrowing or constriction of a long segment of the arch of the aorta. HP:0031055 Abnormal branching pattern of left aortic arch biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031055 A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries, whereby the aortic arch descends on the left as normal (as opposed to right aortic arch). HP:0032386 Elevated circulating transferrin concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032386 Elevated transferrin level An abnormally increased concentration of transferrin in the blood circulation. HP:0007376 Abnormality of the choroid plexus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007376 UMLS:C4024893 An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells. HP:0006045 Short pointed phalanges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006045 UMLS:C1849740 Short pointed digital bones HP:0007377 Abnormality of somatosensory evoked potentials biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007377 UMLS:C4021577 Abnormality of SSEPs An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex. HP:0007378 Neoplasm of the gastrointestinal tract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007378 UMLS:C0017185|NCIT:C3262|MSH:D005770|SNOMEDCT_US:126768004 GI tract tumor|Neoplasm of the GI tract|Gastrointestinal tract tumor|Gastrointestinal tract neoplasia|Gastrointestinal tract neoplasm A tumor (abnormal growth of tissue) of the gastrointestinal tract. HP:0007379 Neoplasm of the genitourinary tract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007379 MSH:D014565|UMLS:C0042065|NCIT:C3262|UMLS:C4020809 Neoplasm of the GU tract|Genitourinary tract neoplasia|Genitourinary tract neoplasm|Genitourinary tract tumors A tumor (abnormal growth of tissue) of the genitourinary system. HP:0006048 Distal widening of metacarpals biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006048 UMLS:C1865254 Wide outermost end of long bone Abnormal increase in width of the distal region of the metacarpal bones. HP:0007372 Atrophy/Degeneration involving the corticospinal tracts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007372 UMLS:C4024897 HP:0007373 Motor neuron atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007373 UMLS:C4024896 Motor neuron degeneration Wasting involving the motor neuron. HP:0006042 Y-shaped metacarpals biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006042 UMLS:C1861373 Y-shaped long bone of hand Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly. HP:0007374 Atrophy/Degeneration involving the caudate nucleus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007374 UMLS:C4024895 HP:0007375 Abnormality of the septum pellucidum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007375 UMLS:C4024894 An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain. HP:0033642 Mitral valve leaflet calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033642 Deposition of calcium salts in the leaflets (cusps) of the mitral valve. HP:0032310 Granulocytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032310 An increased count of granulocytes in the peripheral blood circulation. HP:0032311 Increased circulating globulin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032311 An abnormally elevated concentration of globulins in the blood. HP:0033641 Aortic valve leaflet calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033641 Aortic cusp calcification|Aortic valve cusp calcification Deposition of calcium salts in the leaflets (cusps) of the aortic valve. HP:0032312 Decreased circulating globulin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032312 An abnormally reduced concentration of globulins in the blood. HP:0032313 Frontotemporal hypertrichosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032313 Excessive, increased hair growth located in the region of the forehead and temple. HP:0032318 Family history of heart disease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032318 A close blood relative had heart disease. HP:0032319 Health status biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032319 Health status of a family member with respect to the disease being investigated in a proband. HP:0032314 Abnormal areolar morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032314 An abnormal appearance or structure of the ring of pigmented skin that surrounds the nipple. HP:0032315 Areolar fullness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032315 The areola (ring of pigmented skin surrounding the nipple) is filled out so as to produce a rounded shape. HP:0032316 Family history biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032316 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. HP:0032317 Family history of cancer biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032317 A close blood relative had cancer. HP:0006097 3-4 finger syndactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006097 UMLS:C1856889 Webbed 3rd-4th fingers|Webbed 3rd-4th finger|Partial or complete syndactyly 3rd-4th fingers Syndactyly with fusion of fingers three and four. HP:0006099 Metacarpophalangeal joint hyperextensibility biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006099 UMLS:C4025092 Increased mobility of one ore more metacarpophalangeal joint. HP:0032321 Unaffected biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032321 This term applies to a family member in whom the diagnosis that is the primary focus of investigation is excluded. HP:0032322 Healthy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032322 No history of any serious disease, including the disease being investigated in the proband. HP:0032323 Periodic fever biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032323 Episodic fever that recurs at regular intervals. HP:0032324 Non-periodic recurrent fever biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032324 Episodic fever that recurs at irregular intervals. HP:0032320 Affected biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032320 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). HP:0032329 Increased urinary 11-deoxycortisol level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032329 An abnormally elevated concentration of 11-deoxycortisol in the urine. HP:0032325 Lacunar stroke biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032325 A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain. HP:0032326 Methicillin-resistant Staphylococcus aureus infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032326 MRSA 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. HP:0032327 Interhemispheric cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032327 Cystic collection (sac-like, fluid containing pocket of membranous tissue) located in the interhemispheric fissure, with or without communication with the ventricular system. HP:0032328 Temporomandibular joint adhesion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032328 Formation of one or more fibrous bands within the temporomandibular joint (TMJ) with resulting limitation of movement of the TMJ. Adhesions may be seen in degenerative processes that involve the TMJ. HP:0200150 Increased serum bile acid concentration during pregnancy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200150 UMLS:C4020695|UMLS:C4021882 Increased serum bile acid concentration during pregnancy, resolves HP:0200154 Agenesis of mandibular lateral incisor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200154 UMLS:C4280283|UMLS:C4021880 Missing mandibular lateral incisor|Absence of mandibular lateral incisor|Absence of lower lateral incisor|Missing lower lateral incisor|Failure of development of mandibular lateral incisor HP:0200153 Agenesis of lateral incisor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200153 UMLS:C4227831|UMLS:C4021881 Failure of development of lateral incisor|Missing lateral incisor|Absence of lateral incisor HP:0200151 Cutaneous mastocytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200151 UMLS:C1136033|SNOMEDCT_US:397012002|MSH:D034701|SNOMEDCT_US:703827008 Multifocal dense infiltrates of mast cells in cutaneous tissue. HP:0031001 Minifascicle formation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031001 A nerve fascicle or fasciculus is a small bundle of axons, enclosed by the perineurium. A minifascule refers to a group of thinly myelinated and unmyelinated axons surrounded by a delicate perineurium, and with a smaller diameter than a normal nerve fascicle. HP:0200158 Agenesis of permanent mandibular lateral incisor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200158 UMLS:C4021879|UMLS:C4280282 Absence of permanent mandibular lateral incisor|Absence of adult mandibular lateral incisor|Failure of development of permanent mandibular lateral incisor|Missing permanent mandibular lateral incisor|Missing adult lower lateral incisor HP:0032332 Oligoclonal elevation of circulating IgM biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032332 An increase in circulating IgM characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase. HP:0032333 Polyclonal elevation of circulating IgA biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032333 A heterogeneous increase in IgA mmunoglobulins characterized by a diffuse band on serum electrophoresis. HP:0031002 Neuritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031002 Inflammation of a nerve. HP:0032334 Oligoclonal elevation of circulating IgA biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032334 An increase in circulating IgA characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. HP:0031003 Polyneuritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031003 Multiple neuritis Simulataneous inflammation of multiple nerves. HP:0032335 Monoclonal elevation of circulating IgA biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032335 An increase in circulating IgA characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. HP:0031004 Hemiareflexia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031004 Areflexia that is limited to one side of the body. HP:0032330 Increased urinary 11-deoxycorticosterone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032330 An abnormally elevated concentration or amount of 11-deoxycorticosterone in the urine. HP:0200159 Agenesis of primary mandibular lateral incisor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200159 UMLS:C4280281|UMLS:C4280280|UMLS:C4021878 Missing deciduous mandibular lateral incisor|Absence of deciduous mandibular lateral incisor|Failure of development of deciduous mandibular lateral incisor|Missing primary mandibular lateral incisor|Agenesis of deciduous mandibular lateral incisor|Absence of primary mandibular lateral incisor|Failure of development of primary mandibular lateral incisor|Absence of lower front baby tooth HP:0031000 Vestibular saccular degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031000 Deterioration or loss of the tissues of the saccule of the vestibule. HP:0032331 Increased urinary 11-deoxytetrahydrocorticosterone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032331 An abnormally elevated concentration or amount of 11-deoxytetrahydrocorticosterone the urine. HP:0031009 Ainhum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031009 Dactylolysis spontanea Development of a fibrotic constriction ring involving the base of one or more toes, conditioning eversion and absorption of distal structures, possibly progressing to spontaneous amputation. HP:0032336 Increased circulating specific IgE antibody biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032336 HP:0031005 Hyperalgesia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031005 Abnormally increased sensitivity to pain. HP:0032337 Monoclonal elevation of circulating IgE biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032337 An increase in circulating IgE characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. HP:0031006 Acroparesthesia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031006 A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes. HP:0032338 Oligoclonal elevation of circulating IgE biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032338 An increase in circulating IgE characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. HP:0031007 Orofacial action-specific dystonia induced by speech biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031007 Jaw dystonia induced by speaking HP:0032339 Polyclonal elevation of circulating IgE biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032339 A heterogeneous increase in IgE mmunoglobulins characterized by a diffuse band on serum electrophoresis. HP:0031008 Lingual dystonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031008 Tongue dystonia Involuntary protrusions, movements, spams and contortions of the tongue. HP:0006077 Absent proximal finger flexion creases biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006077 UMLS:C1850048 Absence of the proximal interphalangeal flexion creases of the fingers. HP:0200161 Agenesis of mandibular incisor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200161 UMLS:C4021876|UMLS:C3150012|UMLS:C4280277 Failure of development of mandibular incisor|Absence of mandibular incisor|Absence of lower incisor|Missing lower incisor|Absence of lower front tooth|Missing lower front tooth|Agenesis of lower incisor HP:0006092 Malaligned carpal bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006092 UMLS:C1856742 Incorrect alignment of wrist bone Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna). HP:0200160 Agenesis of maxillary incisor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200160 UMLS:C4280279|UMLS:C4280278|UMLS:C4021877 Absence of maxillary incisor|Missing upper front tooth|Failure of development of maxillary incisor|Absence of upper front tooth|Missing upper incisor|Failure of development of upper incisor HP:0006094 Finger joint hypermobility biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006094 SNOMEDCT_US:298193009|UMLS:C0574974 Increased mobility in finger joint HP:0006095 Wide tufts of distal phalanges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006095 UMLS:C1835101 Wide tips of outermost digital bone HP:0031012 Thin-cap fibroatheroma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031012 TCFA Thin-cap fibroatheroma is characterized by a relatively large necrotic core with an overlying thin fibrous cap measuring <65 µm typically containing numerous macrophages, and is considered to be the precursor lesion of plaque rupture which is the most common cause of coronary thrombosis. HP:0032344 Upslanting toenail biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032344 Upturned toenail|Ski-jump toenail Upturned concavity of toenails. HP:0031013 Ankylosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031013 A reduction of joint mobility resulting from changes involving the articular surfaces. HP:0031014 Arteria lusoria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031014 Lusorian artery|Aberrant right subclavian artery Usually, three large arteries arise from the arch of the aorta: the brachiocephalic trunk (divided into the right common carotid artery and the right subclavian artery), the left common carotid artery, and the left subclavian artery. However, when aberrant right subclavian artery variant is present, the brachiocephalic trunk is absent and four large arteries arise from the arch of the aorta: the right common carotid artery, the left common carotid artery, the left subclavian artery, and the final one with the most distal left sided origin, the right subclavian artery, also called the arteria lusoria. HP:0032345 Elevated cancer Ag 19-9 level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032345 An abnormal increased in the amount of the carbohydrate antigen 19-9, a recognizable sialo-ganglioside in the blood circulation. HP:0031015 Intrahepatic portal vein sclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031015 Obliterative portal venopathy|Idiopathic non-cirrhotic portal hypertension|Incomplete septal cirrhosis|Non cirrhotic portal fibrosis Sclerosis of the intrahepatic portal veins of the liver and generally accompanied by non-cirrhotic portal hypertension, features of which may include splenomegaly and varices. HP:0032346 Cutaneous lichen amyloidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032346 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. HP:0032340 obsolete Abnormal spirometry test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032340 HP:0031010 Hyperphalangy of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031010 Hyperphalangy of third finger An accessory phalanx of the third (middle) finger that is arranged linearly with the other phalanges. Hyperphalangy results from an accessory ossification center at the metacarpophalangeal joint. HP:0032341 Reduced forced vital capacity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032341 Reduced FVC|Decreased forced vital capacity An abnormal reduction in the amount of air a person can expel following maximal insipiration. HP:0032342 Reduced forced expiratory volume in one second biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032342 An abnormal reduction in the amount of air a person can forcefully expel in one second. HP:0031011 Fatty streak biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031011 Sudanophilic lesion Yellow-colored streaks, patches, or spots on the intimal surface of arteries. Fatty streaks stain red with Sudan III or Sudan IV. HP:0032347 Cutaneous macular amyloidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032347 Macular amyloidosis A type of cutaneous amyloidosis that is characterized by hyperpigmented patches with indefinite margins composed of grayish brown macules, often with a reticulated or rippled appearance. Lesions may present as a hyperpigmented patch composed of small brown macules in a rippled or reticulated pattern. HP:0031016 Alternating radiolucent and radiodense metaphyseal lines biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031016 Zebra stripe sign Areas of radio-opaque sclerotic bands alternating with those of normal lucency give rise to stripes akin to a zebra. HP:0032348 Cutaneous nodular amyloidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032348 A type of cutaneous amyloidosis that is characterized clinically by waxy, purpuric plaques and nodules and histologically by amyloid deposits in the dermis and subcutaneous tissue. HP:0031017 Swiss cheese atrial septal defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031017 Multiple defects in the atrial septum. HP:0031018 Eccrine syringofibroadenoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031018 Eccrine syringofibroadenomatous hyperplasia|Acrosyringeal adenomatosis|Syringofibroadenoma Eccrine syringofibroadenoma (ESFA) is a benign adnexal tumor arising most often on the extremities of elderly individuals characterized by anastomosing cords of cuboidal epithelial cells surrounded by a fibrovascular stroma containing plasma cells and ductal structures. ESFA stains positively with epithelial membrane antigen (EMA) and carcinoembryonic antigen (CEA). HP:0032349 Serinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032349 A increased concentration of serine in the urine. HP:0031019 Pyknotic bone marrow neutrophils biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031019 Nuclear lobes of neutrophils in the bone marrow are thickened and condensed, and individual lobes are connected by unusually long chromatin filaments. HP:0006089 Palmar hyperhidrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006089 UMLS:C1856953 Excessive sweating of hands HP:0006086 Thin metacarpal cortices biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006086 UMLS:C1850160 HP:0006088 1-5 finger complete cutaneous syndactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006088 UMLS:C1861357 HP:0010962 Extralobar sequestration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010962 UMLS:C4023626 A kind of bronchopulmonary sequestration that is completely discrete from the normal lung and is surrounded by separate pleura. HP:0010961 Intralobar sequestration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010961 UMLS:C4023627 A kind of bronchopulmonary sequestration that is incorporated into the normal surrounding lung. HP:0010960 Bronchopulmonary sequestration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010960 SNOMEDCT_US:18620009|UMLS:C0006288|MSH:D001998 The presence of microscopic cystic masses of nonfunctioning pulmonary tissue that lack an obvious communication with the tracheobronchial tree. HP:0033600 Fibrillary glomerular subepithelial deposits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033600 A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). HP:0033606 Bone marrow maturation arrest biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033606 Hematopoietic maturation arrest Interruption of the procecss of diffferentiation of hematopoietic cells in the bone marrow, manifested by an increased proportion of immature cells in the bone marrow. HP:0008639 Gonadal hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008639 UMLS:C0239761 Underdeveloped gonad HP:0007307 Rapid neurologic deterioration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007307 UMLS:C4024908 HP:0010969 Abnormality of glycolipid metabolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010969 UMLS:C4023621 An abnormality of glycolipid metabolism. HP:0033605 Pustular rash biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033605 Pustulosis A rash composed of pustular lesions. A pustule is defined as a vesicle or bulla containing purulent material. It varies in size and may occur at different levels within the epidermis: subcorneal, intraepidermal, or basement membrane zones. The pustules may or may not be sterile and are normally filled with neutrophils. HP:0009969 Partial duplication of the middle phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009969 UMLS:C4024138 Partial duplication of the middle bone of the 3rd finger Partial duplication of the middle phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx. HP:0007308 Extrapyramidal dyskinesia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007308 UMLS:C1848528 HP:0033608 Pulmonary nodule biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033608 Focal rounded or ovoid opacity, not more than 3 cm in diameter. Pulmonary nodules are typically observed by chest radiography or computer tomography imaging. HP:0010968 Abnormality of liposaccharide metabolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010968 UMLS:C4023622 An abnormality of liposaccharide metabolism. HP:0033607 Bone marrow arrest at the promyelocytic stage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033607 A type of bone marrow maturation arrest characterized by accumulation of neutrophil precursor cells in the bone marrow. HP:0010967 Abnormal circulating carnitine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010967 UMLS:C4021855|UMLS:C4020761 Carnitine levels abnormal Any deviation from the normal concentration of carnitine in the blood circulation. HP:0009966 Complete duplication of the middle phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009966 UMLS:C4024140 Complete duplication of the middle bone of the middle finger Complete duplication of the middle phalanx of middle finger. HP:0008635 Hypertrophy of the urinary bladder biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008635 UMLS:C4021531 Hypertrophic urinary bladder Abnormal enlargement of the urinary bladder. HP:0010966 Abnormal circulating fatty-acid anion concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010966 UMLS:C4021209 Abnormality of fatty acid anion Any deviation from the normal concentration of a fatty acid anion in the blood circulation. HP:0033602 Glomerular hyaline subepithelial deposits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033602 A type of glomerular subepithelial deposit characterized by a moderately electron-dense, generally homogenous, amorphous-appearing extracellular material located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). HP:0009965 Complete duplication of the distal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009965 UMLS:C4024141 Complete duplication of the outermost bone of the 3rd finger Complete duplication of the distal phalanx of middle finger HP:0010965 Abnormal circulating phytanic acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010965 UMLS:C4023623 Abnormal circulating phytanic acid level Any deviation from the normal concentration of phytanic acid in the blood circulation. HP:0033601 Glomerular subepithelial immune-complex deposits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033601 A type of glomerular subepithelial deposit characterized by finely granular material deposited between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM and corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). HP:0009968 Partial duplication of the distal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009968 UMLS:C4021360 Bifid terminal phalanx of the 3rd finger|Notched outermost bone of the middle finger|Partial duplication of the outermost bone of the middle finger Partial duplication of the distal phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx. HP:0033604 Glomerular capillary wire loop deposits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033604 Glomerulus showing markedly and irregularly thickened capillary walls with massive fuchsinophilic subendothelial deposits, resulting in narrowing of capillary lumina. This feature is said to resemble a wire loop. HP:0007305 CNS demyelination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007305 UMLS:C0338474 Demyelination in central white matter A loss of myelin from nerve fibers in the central nervous system. HP:0010964 Abnormal circulating long-chain fatty-acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010964 UMLS:C4023624 Any deviation from the normal concentration of a long-chain fatty acid in the blood circulation. HP:0009967 Complete duplication of the proximal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009967 UMLS:C4024139 Complete duplication of the innermost bone of the 3rd finger Complete duplication of the third proximal phalanx of hand. HP:0008636 Lobular glomerulopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008636 UMLS:C4024651 HP:0010963 Absence of stomach bubble on fetal sonography biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010963 UMLS:C4023625 Absence of stomach bubble on foetal sonography By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation. HP:0033603 Glomerular subepithelial deposits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033603 Deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature may be associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate). HP:0008631 Ureteral dysgenesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008631 UMLS:C4024653 A developmental anomaly of the ureter. HP:0009962 Duplication of the distal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009962 UMLS:C4021363 Partial/complete duplication of the outermost bone of the middle finger|Partial/complete duplication of the distal phalanx of the 3rd finger Partial or complete duplication of the distal phalanx of middle finger. HP:0009961 Partial duplication of the phalanges of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009961 UMLS:C4024142 Partial duplication of middle finger bones A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. HP:0009964 Duplication of the proximal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009964 UMLS:C4021361 Partial/complete duplication of the proximal phalanx of the 3rd finger|Duplication of the proximal bone of the middle finger Partial or complete duplication of the third proximal phalanx of hand. HP:0008633 Agonadism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008633 UMLS:C4024652 Absent gonadal tissue|Gonadal agenesis Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females). HP:0007301 Oromotor apraxia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007301 UMLS:C4021845 HP:0007302 Bipolar affective disorder biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007302 SNOMEDCT_US:13746004|UMLS:C0005586|MSH:D001714 Bipolar disorder HP:0009963 Duplication of the middle phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009963 UMLS:C4021362 Partial/complete duplication of the middle phalanx of the 3rd finger|Duplication of the middle bone of the middle finger Partial or complete duplication of the middle phalanx of middle finger. HP:0033609 Solid pulmonary nodule biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033609 A type of pulmonary nodule whose density obscures the underlying parenchyma and thus has a "solid" appearance. HP:0009960 Complete duplication of the phalanges of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009960 UMLS:C4024143 Complete duplication of middle finger bones A complete duplication affecting one or more of the phalanges of the 3rd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. HP:0010951 Abnormality of the third ventricle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010951 UMLS:C4023629 An abnormality of the third ventricle. HP:0010950 Abnormality of the fourth ventricle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010950 UMLS:C4023630 An abnormality of the fourth ventricle. HP:0033611 Part-solid pulmonary nodule biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033611 Part-solid pulmonary nodules are nodules that present with both ground-glass and solid components in which the underlying lung architecture cannot be visualized. HP:0033610 Subsolid pulmonary nodule biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033610 Pulmonary subsolid nodules (SSNs) refer to pulmonary nodules with pure ground-glass nodules and part-solid ground-glass nodules. A ground-glass nodule (GGN) is the morphologic description of a pulmonary nodule category on thin-section chest computed tomography (CT). During the past decade, the natural history, management strategy and long-term prognosis in the case of GGNs have attracted attention. HP:0010959 Congenital cystic adenomatoid malformation of the lung biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010959 SNOMEDCT_US:111318005|MSH:D015615|UMLS:C0010668 CCAM|Cystic adenomatoid lung disease|Congenital cystic disease of the lung Congenital cystic adenomatoid malformation (CCAM) can be diagnosed prenatally if ultrasound shows a cystic or solid lung tumor. A CCAM does not have systemic arterial blood supply (in contrast to bronchopulmonary sequenstration). It is a cystic area within the lung that originates from abnormal embryogenesis. HP:0033617 Supernumerary tracheal bronchus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033617 Accessory bronchus which exits the trachea in addition to an anatomically normal branching upper lobe bronchus. HP:0010958 Bilateral renal agenesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010958 SNOMEDCT_US:41962002|UMLS:C1609433|MSH:C536482 A bilateral form of agenesis of the kidney. HP:0033616 Accessory cardiac bronchus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033616 Accessory bronchus originating from the medial wall of the right or left ban bronchus or bronchus intermedius. A cardiac bronchus is usually blind-ended. HP:0010957 Congenital posterior urethral valve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010957 SNOMEDCT_US:253900005|UMLS:C0238506 Posterior urethral valves|Posterior urethral valve A developmental defect resulting in an obstructing membrane in the posterior male urethra. HP:0033619 Typical perifissural nodule biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033619 A perifissural nodule that has contact with the interlobar septum (and is therefore considered typical). HP:0010956 Fetal megacystis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010956 MSH:C536139|UMLS:C2931117 Foetal megacystis Fetal megacystis is an abnormally enlarged bladder identified at any gestational age. HP:0033618 Displaced lobar tracheal bronchus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033618 Bronchus suis|Pig bronchus Accessory entire right upper lobe bronchial system originating from the trachea with absent anatomically normal upper lobe bronchus. HP:0010955 Dilatation of the bladder biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010955 UMLS:C0549253 The presence of a dilated urinary bladder. HP:0009977 Duplication of the proximal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009977 UMLS:C4021356 Partial/complete duplication of the proximal phalanx of the 4th finger|Duplication of the proximal bone of the ring finger Partial or complete duplication of the fourth proximal phalanx of hand. HP:0033613 Perifissural pulmonary nodule biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033613 Solid, homogenous nodules characterised by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes. HP:0007314 obsolete White matter neuronal heterotopia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007314 HP:0009976 Duplication of the middle phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009976 UMLS:C4021357 Partial/complete duplication of the middle phalanx of the 4th finger|Partial/complete duplication of the middle bone of the ring finger Partial or complete duplication of the middle phalanx of ring finger. HP:0033612 Pure ground-glass pulmonary nodule biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033612 Pure ground-glass pulmonary nodules (GGNs) are defined as focal nodular areas of increased lung attenuation through which lung parenchymal structures, such as the pulmonary vessels or bronchial structures, can be observed. HP:0010954 Hypoplastic right heart biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010954 SNOMEDCT_US:39589002|UMLS:C0265856|SNOMEDCT_US:268180007|UMLS:C0344963 Underdeveloped right heart|Hypoplastic right heart syndrome Underdevelopment of the right-sided structures of the heart. HP:0010953 Noncommunicating hydrocephalus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010953 SNOMEDCT_US:230746009|UMLS:C0549423|SNOMEDCT_US:82346000|MSH:D006849 A form of hydrocephalus in which the flow of cerebrospinal fluid (CSF) within the cerebral ventricular system or in the outlets of the CSF to the arachnoid space is obstructed. HP:0009979 Complete duplication of the middle phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009979 UMLS:C4024132 Complete duplication of the middle bone of the ring finger Complete duplication of the middle phalanx of ring finger. HP:0008648 Anteriorly displaced urethral meatus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008648 UMLS:C4024648 HP:0007316 obsolete Involuntary writhing movements biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007316 HP:0033615 Displaced tracheal bronchus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033615 Accessory bronchus originating from trachea replacing one of the segmental branches of the anatomically normal upper lobe bronchus. HP:0008647 Pubertal developmental failure in females biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008647 UMLS:C4024649 HP:0009978 Complete duplication of the distal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009978 UMLS:C4024133 Complete duplication of the outermost bone of the ring finger Complete duplication of the distal phalanx of ring finger. HP:0033614 Tracheal bronchus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033614 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. HP:0010952 Mild fetal ventriculomegaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010952 UMLS:C4023628 Mild foetal ventriculomegaly A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (PMID:16100637). HP:0009973 Complete duplication of the phalanges of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009973 UMLS:C4024135 Complete duplication of the bones of the ring finger A complete duplication affecting one or more of the phalanges of the 4th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. HP:0009972 Duplication of phalanx of 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009972 UMLS:C4021359 Partial/complete duplication of phalanges of the 4th finger|Duplication of bones of the ring finger This term applies if one or more of the phalanges of the 4th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. HP:0007311 Short stepped shuffling gait biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007311 UMLS:C3805715 Short stepped shuffling walk HP:0009975 Duplication of the distal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009975 UMLS:C4021358 Partial/complete duplication of the distal phalanx of the 4th finger|Partial/complete duplication of the outermost bone of the ring finger Partial or complete duplication of the distal phalanx of ring finger. HP:0009974 Partial duplication of the phalanges of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009974 UMLS:C4024134 Partial duplication of the bones of the ring 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. HP:0007313 Cerebral degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007313 SNOMEDCT_US:52522001|SNOMEDCT_US:418143002|UMLS:C0154671 Neuroaxonal degeneration in the brain HP:0008643 Nephroblastomatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008643 UMLS:C2675558 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. HP:0009971 Polydactyly affecting the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009971 UMLS:C4024136 Extra ring finger HP:0008640 Congenital macroorchidism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008640 UMLS:C4024650 HP:0009970 Partial duplication of the proximal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009970 UMLS:C4024137 Partial duplication of the proximal bone of the middle finger Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. HP:0010940 Aplasia/Hypoplasia of the nasal bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010940 UMLS:C4023636 Absence or underdevelopment of the nasal bone. HP:0033620 Atypical perifissural nodule biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033620 A perifissural nodule that does not have contact with the interlobar septum (and is therefore considered atypical). HP:0033622 Migratory erythematous plaque biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033622 A migratory, centrifugal, erythematous, tender, non-purpuric, and well-demarcated plaque. This feature may be observed in TNF receptor-associated periodic syndrome, in which it often occurs together with migratory myalgia in muscles located underneath the affected areas of skin. HP:0033621 Bronchial diverticula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033621 Bronchial diverticula are blind-ended outpouchings arising from the bronchial tree. They are commonly pulsion diverticula acquired related to chronic cough. Subcarinal air cyst is thought to represent a small main bronchial diverticulum. HP:0010948 Abnormality of the fetal cardiovascular system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010948 UMLS:C4021210 Abnormality of the foetal cardiovascular system|Abnormality of the fetal circulation system An abnormality of the fetal circulation system or fetal echocardiogram. HP:0033628 Bowel irritability biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033628 Intermittent abdominal pain with diarrhea and/or constipation. HP:0009948 Duplication of the distal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009948 UMLS:C4021367 Partial/complete duplication of the outermost bone of the index finger|Partial/complete duplication of the distal phalanx of the 2nd finger Partial or complete duplication of the distal phalanx of index finger. HP:0033627 Increased urine harderoporphyrin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033627 Increased amount of harderoporphyrin in the urine. HP:0010947 Abnormality of ductus venosus blood flow biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010947 UMLS:C4023632 A first-trimester prenatal ultrasound finding of abnormal blood flow in the ductus venosus. HP:0009947 Duplication of the proximal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009947 UMLS:C4021368 Duplication of the proximal bones of the index finger|Partial/complete duplication of the proximal phalanx of the 2nd finger Partial or complete duplication of the second proximal phalanx of hand. HP:0008619 Bilateral sensorineural hearing impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008619 SNOMEDCT_US:194424005|UMLS:C0452138 Bilateral sensorineural deafness|Bilateral nerve deafness|Bilateral sensorineural hearing loss|Hearing loss, sensorineural, bilateral A bilateral form of sensorineural hearing impairment. HP:0010946 Dilatation of the renal pelvis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010946 UMLS:C1868864 The presence of dilatation of the renal pelvis. HP:0010945 Fetal pyelectasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010945 MSH:D058536|UMLS:C2317073|SNOMEDCT_US:430035004 Foetal pyelectasis|Mild fetal hydronephrosis|Fetal renal pelvic dilatation Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement. HP:0033629 IgG4 autoimmune antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033629 The presence of an antibody of subclass IgG4 in the blood circulation that is directed against the organism's own cells or tissues. HP:0009949 Duplication of the middle phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009949 UMLS:C4021366 Partial/complete duplication of the middle phalanx of the 2nd finger|Partial/complete duplication of the middle bones of the index finger Partial or complete duplication of the middle phalanx of index finger. HP:0009944 Partial duplication of thumb phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009944 UMLS:C4082168 Partial duplication of the phalanges of the thumb|Bifid thumb|Notching of thumb phalanges|Partial duplication of the thumb bones 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. HP:0010944 Abnormal renal pelvis morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010944 UMLS:C4023633 Abnormality of the renal pelvis An abnormality of the renal pelvis. HP:0033624 History of congenital CMV infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033624 History of congenital cytomegalovirus 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. HP:0033623 Birth history biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033623 Information about the delivery and health status at birth typically elicited as a part of the past medical history. HP:0010943 Echogenic fetal bowel biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010943 UMLS:C2936423|MSH:D058535 Echogenic foetal bowel|Echogenic bowel Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone. HP:0009943 Complete duplication of thumb phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009943 UMLS:C3554724 Complete duplication of the phalanges of the thumb|Complete duplication of thumb bones|Digitalization of thumbs|Digitalization of thumb A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. HP:0009946 Polydactyly affecting the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009946 UMLS:C4024152 Extra index finger HP:0010942 Echogenic intracardiac focus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010942 UMLS:C4023634 A finding of a focus of increased echogenicity upon prenatal ultrasound examination of the fetus. The foci may be present in one or both ventricles. Echogenic intracardiac focus (EICF) is defined as a focus of echogenicity comparable to bone, in the region of the papillary muscle in either or both ventricles of the fetal heart. HP:0033626 Increased non-HDL cholesterol concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033626 Elevated non-HDL cholesterol concentration Increase above normal levels of non-HDL cholesterol in the blood. Non-HDL cholesterol is total cholesterol minus high-density lipoprotein HDL-cholesterol (high-density lipoprotein-cholesterol). HP:0008615 Adult onset sensorineural hearing impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008615 UMLS:C4021534 Sensorineural deafness, late-onset|Late sensorineural hearing loss The presence of sensorineural deafness with late onset. HP:0010941 Aplasia of the nasal bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010941 MSH:C562753|UMLS:C4023635|UMLS:C0339851|UMLS:C0339850|SNOMEDCT_US:91900007 Missing nasal bone|Absence of the nasal bone|Agenesis of the nasal bone|Lack of development of the nasal bone|Failure of development of the nasal bone Absence of the nasal bone. HP:0009945 Duplication of phalanx of 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009945 UMLS:C4021369 Partial/complete duplication of phalanges of the 2nd finger|Duplication of the bones of index finger This term applies if one or more of the phalanges of the 2nd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. HP:0033625 Emotional insecurity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033625 A feeling of general unease or nervousness that may be triggered by a sense of vulnerability or instability which is perceived as threatening. HP:0009940 Asymmetry of the mandible biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009940 UMLS:C0399518|UMLS:C4082201|SNOMEDCT_US:235082006 Deviation of the lower jaw|Lower jaw shifted to one side|Canted mandible|Uneven mandible|Deviation of the mandible|Tilted mandible|Deviation of mandible|Asymmetry of lower jaw|Canted lower jaw|Tilted lower jaw|Crooked lower jaw|Uneven lower jaw|Deviation of lower jaw Lack of symmetry between the left and right mandible. HP:0009942 Duplication of thumb phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009942 UMLS:C4021370 Complete/partial duplication of phalanges of the thumb|Duplicated thumbs|Duplicated thumb|Duplication of phalanx of thumb 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. HP:0009941 Asymmetry of the mouth biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009941 UMLS:C4024153 Asymmetry of oral cavity|Tilted mouth|Uneven mouth|Crooked mouth|Asymmetry of the mouth|Canted mouth The presence of an asymmetric mouth. HP:0008610 Infantile sensorineural hearing impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008610 UMLS:C4021535 Infantile sensorineural hearing loss A form of sensorineural hearing impairment with infantile onset. HP:0010949 Abnormality of umbilical vein blood flow biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010949 UMLS:C4023631 A first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein. HP:0033631 Spondylitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033631 Inflammation of the vertebrae (vertebral bodies) or spine. HP:0032300 Increased circulating IgG4 level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032300 An abnormally increased concentration of the IgG4 subtype in the blood circulation. HP:0033630 Brain fog biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033630 Mental clouding|Mental fatigue|Mental fog Brain fog is a type of transient cognitive dysfunction that comprises a constellation of symptoms that impair intellectual functioning to a level that interferes with daily activities, commonly including forgetfulness, mental slowness, difficulty thinking or focusing, a perceived slowing of mental processing speed, inability to find the right words, a sensation that the mind went blank or is "cloudy". Brain fog tends to recur and may be triggered by factors such as physical fatigue, lack of sleep, and prolonged standing or may appear to occur spontaneously. HP:0033633 Decreased alveolar volume biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033633 An abnormal reduction in alveolar volume. HP:0032301 Genital warts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032301 Warts affecting the skin in the genital area (peniile shaft, scrotum, vagina, or labia majora). Warts can be small, beginning as a pinhead-size swelling that may become larger and take on a pdenuculated appearance. Warts can spread and coalesce into large masses in the genital or anal area. Their color is variable but tends to be skin colored or darker, and they may occasionally bleed. Warts may cause itching, redness, or discomfort. An outbreak of genital warts may also cause psychological distress. HP:0033632 Abnormal alveolar volume biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033632 Alveolar volume (VA) is a volume accessible during 10-second breath-hold, measured during a single breath manouver. VA is calculated by knowing the fractional concentration of the tracer gas (eg helium) and the volume of the gas inhaled. VA = Vi*(Fi tracer/Fa tracer). In this equation, Vi = inspired volume of tracer gas, Fi tracer= inspired fraction of tracer gas, Fa tracer = alveolar (exhaled) fraction of tracer gas. HP:0032302 Kappa Bence Jones proteinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032302 The presence of free monoclonal kappa immunoglobulin light chains in the urine. HP:0010937 Abnormality of the nasal skeleton biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010937 UMLS:C4023639|UMLS:C4280361 Deformity of the nasal skeleton|Distortion of the nasal skeleton|Malformation of the nasal skeleton|Abnormality of the nasal skeleton|Anomaly of the nasal skeleton|Malformation of the bones of the nose|Deformity of the bones of the nose|Distortion of the bones of the nose An abnormality of the nasal skeleton. HP:0008628 Abnormality of the stapes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008628 UMLS:C4021532 Stapedial abnormalities An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear. HP:0009959 Duplication of phalanx of 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009959 UMLS:C4021364 Duplication of middle finger bone|Partial/complete duplication of phalanges of the 3rd finger This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. HP:0033639 Septic pulmonary embolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033639 Septic pulmonary emboli Embolization of intravascular thrombus containing microorganisms into the pulmonary parenchyma via arterial system. Septic pulmonary embolism (PE) can be associated with multiple additional clinical manifestations such as fever, tachypnea, and hemoptysis. This HPO term refers to the finding of the septic embolus in the lung, which can be inferred from radiological findings. Typical radiographic features of septic PE include patchy air space lesions simulating non-specific bronchopneumonia; multiple ill defined round or wedge shaped densities of varying sizes from approximately 0.5 to 3.5 cm located peripherally; lesions abutting the pleura and located at the end of vessels (feeding vessel sign) seen on chest CT scans. Other pulmonary features suggesting septic PE include bilateral, occasional unilateral, rapid progression of cavities or abscess formations. HP:0033638 Intralobular septal thickening biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033638 Intralobular lines Intralobular septal thickening is a computed tomography finding of increased width of the walls (septa) within a pulmonary lobule. Secondary pulmonary lobules represent a cluster of up to 30 acini 9 supplied by a common distal pulmonary artery and bronchiole. These clustered acini are bounded by interstitial fibrous septa (interlobular septa) which outline an irregular polyhedron of varying size between 1 and 2.5 cm. Interlobular septal thickening is seen on chest radiographs as thin linear opacities at right angles to and in contact with the lateral pleural surfaces near the lung bases. In contrast, intralobular septal thickening are visible as fine linear opacities in a lobule when the intralobular interstitial tissue is abnormally thickened. When numerous, they may appear as a fine reticular pattern. HP:0009958 Polydactyly affecting the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009958 UMLS:C4024144 Extra middle finger HP:0032308 Increased circulating procalcitonin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032308 An elevated concentration of procalcitonin in the blood circulation. HP:0010936 Abnormality of the lower urinary tract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010936 UMLS:C4023640 An abnormality of the lower urinary tract. HP:0010935 Abnormality of the upper urinary tract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010935 UMLS:C4023641 Abnormality of the upper urinary tract An abnormality of the upper urinary tract. HP:0032309 Abnormal granulocyte count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032309 Any deviation from the normal cell count per volume of granulocytes in the blood circulation. HP:0010934 Xanthinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010934 SNOMEDCT_US:54627004|SNOMEDCT_US:190919008|UMLS:C0220988 Increased urinary xanthine An increased concentration of xanthine in the urine. HP:0008629 Pulsatile tinnitus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008629 SNOMEDCT_US:232322006|UMLS:C0751559|MSH:D014012 Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation. Pulsatile tinnitus may be associated with vascular abnormalities such as arterioevenous shunts or glomus tumors or the jugular vein, arterial bruits related to a high-riding carotid artery (close to the auditory areas) or carotid stenosis, or venous abnormalities such as a dehiscent jugular bulb or to hypertension. Finally, in some patients, mechanical abnormalities such a spatulous eustachian tubes, palatomyoclonus (small spasms of muscles in the soft palate area), or idiopathic stapedial muscle spasm may represent the underlying cause of pulsatile tinnitus. HP:0010933 Hyperxanthinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010933 UMLS:C4023642 An increased level of xanthine in the blood circulation. HP:0033635 Post-capillary pulmonary hypertension biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033635 Postcapillary pulmonary hypertension Post-capillary pulmonary hypertension is a hemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units). HP:0009955 Partial duplication of the proximal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009955 UMLS:C4024147 Partial duplication of the proximal bones of the index finger Partial duplication of the second proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. HP:0032303 Lambda Bence Jones proteinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032303 The presence of free monoclonal lambda immunoglobulin light chains in the urine. HP:0010932 Abnormal circulating nucleobase concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010932 UMLS:C4020762|UMLS:C4023643 Abnormal nucleoside levels An abnormality of a nucleobase metabolic process. HP:0033634 Increased alveolar volume biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033634 An abnormal elevation in alveolar volume. HP:0009954 Complete duplication of the proximal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009954 UMLS:C4024148 Complete duplication of the proximal bone of the index finger Complete duplication of the second proximal phalanx of hand. HP:0032304 Abnormal mannose-binding protein level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032304 Any deviation from the normal concentration of mannose-binding protein in the blood circulation. HP:0032305 Decreased mannose-binding protein level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032305 An abnormal reduction below the normal concentration of mannose-binding protein in the blood circulation. HP:0033637 Anti-endomysial antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033637 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endomysial tissue transglutaminase 2 (tTG2). HP:0009957 Complete duplication of the phalanges of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009957 UMLS:C4024145 Complete duplication of the bones of the index 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. HP:0010931 Abnormal blood sodium concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010931 UMLS:C4023644 Abnormality of sodium homeostasis|Abnormal circulating Na concentration|Abnormal blood Na+ levels An abnormal concentration of sodium. HP:0032306 Increased mannose-binding protein level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032306 An abnormal elevation above the normal concentration of mannose-binding protein in the blood circulation. HP:0010930 Abnormal blood monovalent inorganic cation concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010930 UMLS:C4023645 Abnormality of monovalent inorganic cation homeostasis An abnormality of monovalent inorganic cation homeostasis. HP:0008625 Severe sensorineural hearing impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008625 UMLS:C4021533 Severe sensorineural deafness|Severe sensorineural hearing loss A severe form of sensorineural hearing impairment. HP:0009956 Partial duplication of the phalanges of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009956 UMLS:C4024146 Partial duplication of the bones of the index 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. HP:0033636 Combined pre- and post-capillary pulmonary hypertension biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033636 Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units). HP:0009951 Partial duplication of the distal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009951 UMLS:C4021365 Notched outermost bone of the index finger|Partial duplication of the outermost bone of the 2nd finger|Bifid terminal 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. HP:0009950 Complete duplication of the distal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009950 UMLS:C4024151 Complete duplication of the outermost bone of the index finger Complete duplication of the distal phalanx of index finger. HP:0009953 Partial duplication of the middle phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009953 UMLS:C4024149 Partial duplication of the middle bone of the index finger Partial duplication of the middle phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx. HP:0009952 Complete duplication of the middle phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009952 UMLS:C4024150 Complete duplication of the middle bone of the index finger Complete duplication of the middle phalanx of index finger. HP:0010939 Abnormality of the nasal bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010939 UMLS:C4023637 Deformity of the nasal bones|Abnormality of the nasal bone|Malformation of the nasal bones|Anomaly of the nasal bones An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone. HP:0010938 Abnormality of the external nose biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010938 UMLS:C2164724|UMLS:C4280360|UMLS:C4023638 Anomaly of the external nose|Abnormality of the external nose|Deformity of the external nose|Malformation of the external nose An abnormality of the external nose. HP:0006016 Delayed phalangeal epiphyseal ossification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006016 UMLS:C4021609 Delayed bone maturation of end part of digital bone|Delayed phalangeal epiphyseal bone maturation Delay in the process of formation and maturation of the epiphysis of one or more phalanx. HP:0007348 Hypoplasia of the pyramidal tract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007348 UMLS:C1850871 HP:0008678 Renal hypoplasia/aplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008678 UMLS:C1857453 Renal agenesis/hypoplasia|Renal aplasia/hypoplasia|Absent/underdeveloped kidney|Absent/small kidney Absence or underdevelopment of the kidney. HP:0006019 Reduced proximal interphalangeal joint space biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006019 UMLS:C1861396 Decreased space in hinge joint HP:0007343 Abnormal morphology of the limbic system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007343 UMLS:C1863392 Limbic malformation Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex]. HP:0008675 Enlarged polycystic ovaries biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008675 UMLS:C4024641 Enlarged ovaries with cysts HP:0006012 Widened metacarpal shaft biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006012 UMLS:C1850159 Broad shaft of long bone of hand HP:0007344 Atrophy/Degeneration involving the spinal cord biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007344 UMLS:C1843858 Atrophic and degenerative changes in the spinal cord HP:0008677 Congenital nephrotic syndrome biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008677 MSH:C535761|UMLS:C3501848|SNOMEDCT_US:48796009 Congenital nephrosis Nephrotic syndrome with onset within the first three months of life. HP:0006014 Abnormally shaped carpal bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006014 UMLS:C1860111 Abnormally shaped wrist bones HP:0008676 Congenital megaureter biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008676 UMLS:C0266324|SNOMEDCT_US:95576001|SNOMEDCT_US:718485003 Congenital megaloureter A developmental disturbance with extreme ureteral dilatation. HP:0007346 Subcortical white matter calcifications biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007346 UMLS:C1851430 HP:0007340 Lower limb muscle weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007340 SNOMEDCT_US:249945007|UMLS:C0427068|UMLS:C1836296 Lower limb muscle weakness|Lower limb weakness|Lower extremity weakness|Muscle weakness in lower limbs|Leg weakness Weakness of the muscles of the legs. HP:0008670 Partial vaginal septum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008670 UMLS:C0750088 HP:0007341 Diffuse swelling of cerebral white matter biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007341 UMLS:C1858855 HP:0008672 Calcium oxalate nephrolithiasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008672 SNOMEDCT_US:444717006|UMLS:C1833683|MSH:C563477|UMLS:C4280806 Ca oxalate urolithiasis|Calcium oxalate urolithiasis|Ca2+ oxalate nephrolithiasis|Ca2+ oxalate urolithiasis|Ca oxalate kidney stone|Oxalate nephrolithiasis|Ca oxalate nephrolithiasis|Ca2+ oxalate kidney stone|Calcium oxalate kidney stones The presence of calcium- and oxalate-containing calculi (stones) in the kidneys. HP:0006011 Cuboidal metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006011 UMLS:C4025093 Short, cube shaped long bone of hand Severely shortened metacarpal with a cuboidal appearance. HP:0008691 Solitary bladder diverticulum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008691 UMLS:C4024639 Presence of a single diverticulum (sac or pouch) in the wall of the urinary bladder. HP:0007360 Aplasia/Hypoplasia of the cerebellum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007360 UMLS:C3279222 Absent/small cerebellum|Atrophy/Hypoplasia of the cerebellum|Absent/underdeveloped cerebellum|Atrophy/Degeneration affecting the cerebellum|Cerebellar hypoplasia/atrophy HP:0010995 Abnormal circulating dicarboxylic acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010995 UMLS:C4023606 Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation. HP:0010994 Abnormal corpus striatum morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010994 UMLS:C4023607 Abnormality of the neostriatum|Abnormality of the striate nucleus|Abnormality of the striatum Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens. HP:0010993 Abnormality of the cerebral subcortex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010993 UMLS:C4021207 Abnormality of the cerebral medulla An abnormality of the cerebral subcortex. HP:0010992 Stress urinary incontinence biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010992 UMLS:C0042025|MSH:D014550|SNOMEDCT_US:22220005 Involuntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing. HP:0010991 Abnormal morphology of the abdominal musculature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010991 UMLS:C4023608 Abnormality of the abdominal musculature An abnormality of the abdominal musculature. HP:0010990 Abnormality of the common coagulation pathway biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010990 UMLS:C4023609 An abnormality of blood coagulation, common pathway. HP:0010999 Aplasia of the optic tract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010999 UMLS:C4023603 Absent optic tract HP:0007359 Focal-onset seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007359 UMLS:C0751495|MSH:D012640|SNOMEDCT_US:29753000 Focal seizure|Partial seizure|Focal-onset seizures|Focal onset seizure|Seizure affecting one half of brain|Partial seizures|Focal seizures A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures. HP:0008689 Bilateral cryptorchidism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008689 UMLS:C0431663|SNOMEDCT_US:268228006|MSH:D003456 Cryptorchidism, bilateral Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. HP:0006028 Metaphyseal cupping of metacarpals biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006028 UMLS:C1855171 Cupping of wide portion of long bone of hand|Metacarpal/metaphyseal cupping Metaphyseal cupping affecting the metacarpal bones. HP:0010998 Increased susceptibility to spontaneous sister chromatid exchange biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010998 UMLS:C4023604 An increase in the number of spontaneous sister chromatid exchanges observed in cell culture of lymphocytes or other cells. HP:0010997 Chromosomal breakage induced by ionizing radiation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010997 UMLS:C4021206 Radiation-induced chromosome instability|Increased cellular radiosensitivity|Chromosomal breakage induced by ionising radiation Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation. HP:0010996 Abnormal circulating monocarboxylic acid cocentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010996 UMLS:C4023605 Any deviation from the normal concentration of a monocarboxylic acid in the blood circulation. HP:0007354 Amyotrophic lateral sclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007354 MSH:D000690|SNOMEDCT_US:86044005|UMLS:C0002736 Lou Gehrig's disease HP:0008687 Hypoplasia of the prostate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008687 UMLS:C1844923 Hypoplastic prostate|Underdeveloped prostate HP:0006026 Rounded epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006026 UMLS:C1850632 Rounded end part of bone HP:0008682 Renal tubular epithelial necrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008682 SNOMEDCT_US:35455006|MSH:D007683|UMLS:C0022672 Acute tubular necrosis|Renal tubular necrosis Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%). HP:0007350 Hyperreflexia in upper limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007350 UMLS:C1843175 HP:0007351 Upper limb postural tremor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007351 UMLS:C1867138 Postural tremor of arms A type of tremors that is triggered by holding an arm in a fixed position. HP:0008684 Aplasia/hypoplasia of the uterus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008684 UMLS:C4024640 Absent/small uterus|Absent/underdeveloped uterus Absence or developmental hypoplasia of the uterus. HP:0007352 Cerebellar calcifications biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007352 UMLS:C1851431 HP:0008683 Enlarged labia minora biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008683 UMLS:C1849358 Labia minora hypertrophy|Hypertrophic labia minora Increase in size of the folds of skin between the outer labia. HP:0010984 Digenic inheritance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010984 UMLS:C4023614 A type of multifactorial inheritance governed by the simultaneous action of two gene loci. HP:0010983 Oligogenic inheritance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010983 MSH:D020412|UMLS:C1136026 A type of multifactorial inheritance governed by the simultaneous action of a few gene loci. It is recommended this term be used for traits governed by three loci, although it is noted that usage of this term in the literature is not uniform. HP:0010982 Polygenic inheritance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010982 MSH:D020412|UMLS:C1148552 A type of multifactorial inheritance governed by the simultaneous action of many (more than three) gene loci. HP:0010981 Hypolipoproteinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010981 SNOMEDCT_US:267436001|MSH:D007009|SNOMEDCT_US:363140000|UMLS:C0020623 Lack of fat in blood An abnormal decrease in the level of lipoprotein cholesterol in the blood. HP:0010980 Hyperlipoproteinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010980 UMLS:C0020476|SNOMEDCT_US:3744001|MSH:D006951 An abnormal increase in the level of lipoprotein cholesterol in the blood. HP:0010989 Abnormality of the intrinsic pathway biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010989 UMLS:C4023610 An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade. HP:0007325 Generalized dystonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007325 SNOMEDCT_US:425492002|UMLS:C1848954 Generalised dystonia A type of dystonia that affects all or most of the body. HP:0009988 Duplication of the distal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009988 UMLS:C4021353 Partial/complete duplication of the distal phalanx of the 5th finger|Duplication of the outermost pinkie finger bone|Duplication of the outermost little finger bone|Duplication of the outermost pinky finger bone Partial or complete duplication of the distal phalanx of little finger. HP:0010988 Abnormality of the extrinsic pathway biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010988 UMLS:C4023611 An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade. HP:0009987 Partial duplication of the phalanges of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009987 UMLS:C4024127 Partial duplication of the little finger bone|Partial duplication of the pinkie finger bone|Partial duplication of the pinky finger bone 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. HP:0008656 Incomplete male pseudohermaphroditism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008656 UMLS:C4024645 HP:0010987 Abnormal cellular immune system morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010987 UMLS:C4023612 An abnormality of the morphology or counts of the cells that make up the immune system. HP:0007326 Progressive choreoathetosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007326 UMLS:C1860216 HP:0008659 Multiple small medullary renal cysts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008659 UMLS:C0687120|UMLS:C4024644|SNOMEDCT_US:204958008|UMLS:C4020790 Medullary sponge kidney disease|Medullary cystic disease The presence of many cysts in the medulla of the kidney. HP:0007327 Mixed demyelinating and axonal polyneuropathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007327 UMLS:C4024907 HP:0007328 Impaired pain sensation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007328 UMLS:C1837522 Decreased pain sensation|Decreased pinprick sensation|Impaired pain sensation Reduced ability to perceive painful stimuli. HP:0010985 Gonosomal inheritance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010985 UMLS:C4023613 A mode of inheritance that is observed for traits related to a gene encoded on the sex chromosomes. HP:0009989 Duplication of the middle phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009989 UMLS:C4021352 Duplication of the middle pinky finger bone|Partial/complete duplication of the middle phalanx of the 5th finger|Duplication of the middle pinkie finger bone|Duplication of the middle little finger bone Partial or complete duplication of the fifth middle phalanx of hand. HP:0008653 Crescentic glomerulonephritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008653 UMLS:C0403416|SNOMEDCT_US:236398000 A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation. HP:0007321 Deep white matter hypodensities biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007321 UMLS:C1856979 Deep cerebral white matter hypodensities Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter. HP:0009983 Partial duplication of the proximal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009983 UMLS:C4024129 Partial duplication of the innermost bone of the ring finger Partial duplication of the fourth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. HP:0008652 Autonomic erectile dysfunction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008652 UMLS:C1868524 Impotence due to autonomic dysfunction Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system. HP:0008655 Aplasia/Hypoplasia of the fallopian tube biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008655 UMLS:C4020791|UMLS:C4024646 Absent/underdeveloped fallopian tube|Absent or rudimentary fallopian tubes|Absent/small fallopian tube Aplasia or developmental hypoplasia of the fallopian tube. HP:0009986 Complete duplication of the phalanges of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009986 UMLS:C4024128 Complete duplication of the pinkie finger bone|Complete duplication of the little finger bone|Complete duplication of the pinky finger bone A complete duplication affecting one or more of the phalanges of the 5th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. HP:0009985 Duplication of phalanx of 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009985 UMLS:C4021354 Partial/complete duplication of little finger bone|Partial/complete duplication of pinkie finger bone|Partial/complete duplication of phalanges of the 5th finger|Partial/complete duplication of pinky finger bone 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. HP:0009980 Complete duplication of the proximal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009980 UMLS:C4024131 Complete duplication of the proximal bone of the ring finger Complete duplication of the fourth proximal phalanx of hand. HP:0009982 Partial duplication of the middle phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009982 UMLS:C4024130 Partial duplication of the middle bone of the ring finger Partial duplication of the middle phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx. HP:0008651 Uric acid urolithiasis independent of gout biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008651 UMLS:C4024647 HP:0009981 Partial duplication of the distal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009981 UMLS:C4021355 Bifid terminal phalanx of the 4th finger|Notched outermost bone of the ring finger|Partial duplication of the outermost bone of the ring finger Partial duplication of the distal phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx. HP:0010972 Anemia of inadequate production biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010972 SNOMEDCT_US:70730006|UMLS:C0392708|UMLS:C0678199 Anemia, dyserythropoietic|Ineffective erythropoiesis|Defective erythropoiesis|Dyserythropoietic anemia|Anaemia of inadequate production A kind of anemia characterized by inadequate production of erythrocytes. HP:0010971 Absence of Lutheran antigen on erythrocytes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010971 UMLS:C4023619 Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells. HP:0010970 Blood group antigen abnormality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010970 UMLS:C4023620 An abnormality of an erythrocyte cell surface molecule. HP:0006009 Broad phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006009 UMLS:C1855185 Wide phalanges|Wide digital bones|Widened phalanges|Broad phalanges Increased side-to-side width of one or more phalanges of the fingers or toes. HP:0010979 Abnormality of lipoprotein cholesterol concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010979 UMLS:C4023615 Abnormality of the level of lipoprotein cholesterol An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood. HP:0010978 Abnormality of immune system physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010978 UMLS:C4023616 A functional abnormality of the immune system. HP:0008668 Gonadal dysgenesis, male biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008668 UMLS:C0018054|MSH:D006061 46,xy gonadal dysgenesis Unusual gonadal development in a person with a 46,XY male karyotype, leading to an unassigned sex differentiation. HP:0009999 Partial duplication of the phalanx of hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009999 UMLS:C4024120 Partial duplication of hand bones 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. HP:0010977 Abnormal phagocytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010977 UMLS:C4023617 An abnormal functioning of phagocytosis. Phagocytosis is an elegant but complex process for the ingestion and elimination of pathogens, but it is also important for the elimination of apoptotic cells and hence fundamental for tissue homeostasis. Phagocytosis can be divided into four main steps: (i) recognition of the target particle, (ii) signaling to activate the internalization machinery, (iii) phagosome formation, and (iv) phagolysosome maturation. HP:0010976 B lymphocytopenia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010976 UMLS:C1855067 B cell deficiency|Decreased B cell count|Reduction in B cell number|B cell lymphopenia|Low B cell count An abnormal decrease from the normal count of B cells. HP:0009998 Complete duplication of phalanx of hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009998 UMLS:C4024121 Complete duplication of hand bones A complete duplication affecting one or more of the phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. HP:0006006 Hypotrophy of the small hand muscles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006006 UMLS:C1843228 Degeneration of small hand muscles HP:0010975 Abnormal B cell count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010975 UMLS:C4021208 Abnormal numbers of B cells|Abnormality of B cell count|Abnormality of B cell numbers|Abnormal number of B cells 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. HP:0007338 Hypermetric saccades biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007338 SNOMEDCT_US:246769000|UMLS:C0423083 A saccade that overshoots the target with the dynamic saccade. HP:0006008 Unilateral brachydactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006008 UMLS:C1868164|UMLS:C4280467 Short digits on one side HP:0010974 Abnormal myeloid leukocyte morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010974 UMLS:C4023618 Abnormality of myeloid leukocytes An abnormality of myeloid leukocytes. HP:0008669 Abnormal spermatogenesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008669 SNOMEDCT_US:4529005|UMLS:C4020789|UMLS:C0520933 Impaired spermatogenesis|Abnormal sperm development Incomplete maturation or aberrant formation of the male gametes. HP:0009995 Partial duplication of the middle phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009995 UMLS:C4024123 Partial duplication of the middle pinky finger bone|Partial duplication of the middle little finger bone|Partial duplication of the middle pinkie finger bone Partial duplication of the fifth middle phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. HP:0008664 Urethral sphincter sclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008664 UMLS:C4024643 HP:0007332 Focal hemifacial clonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007332 UMLS:C4024906 Hemifacial seizures Focal seizure characterized at onset by clonic movements affecting half of the face. HP:0008663 Renal sarcoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008663 NCIT:C3158|UMLS:C0346251|SNOMEDCT_US:254918001 A sarcoma of the kidney. HP:0007333 Hypoplasia of the frontal lobes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007333 UMLS:C1849172 Frontal lobe hypoplasia|Underdeveloped frontal lobe|Hypoplastic frontal lobes Underdevelopment of the frontal lobe of the cerebrum. HP:0009994 Partial duplication of the distal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009994 UMLS:C4021350 Partial duplication of outermost pinky finger bone|Bifid terminal phalanx of the 5th finger|Partial duplication of outermost little finger bone|Notched outermost pinky finger bone|Partial duplication of outermost pinkie finger bone Partial duplication of the distal phalanx of little finger, seen on x-rays as a broad and/or bifid phalanx. HP:0007334 Bilateral tonic-clonic seizure with focal onset biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007334 UMLS:C0877017 Secondarily generalised tonic-clonic seizure|Focal to bilateral tonic-clonic seizure|'Generalized' tonic-clonic seizure with focal onset|'Generalized' tonic-clonic seizure with partial onset|Secondary generalized tonic clonic seizures|Partial seizure with secondary generalization|Secondary generalized tonic-clonic seizures|'Generalised' tonic-clonic seizure with partial onset|'Generalised' tonic-clonic seizure with focal onset|Focal seizure with secondary generalization|Focal seizure with secondary generalisation|Partial seizure with secondary generalisation|Partial seizures with secondary generalization|Generalized tonic-clonic seizures with focal onset|Secondarily generalized tonic-clonic seizure|Secondarily generalised tonic-clonic seizures|Generalised tonic-clonic seizures with focal onset A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase. HP:0008666 Impaired histidine renal tubular absorption biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008666 UMLS:C4024642 HP:0009997 Duplication of phalanx of hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009997 UMLS:C4021349 Duplication of finger bones 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. HP:0007335 Recurrent encephalopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007335 UMLS:C1850719 Recurrent cerebellar and extrapyramidal encephalopathy Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections. HP:0009996 Partial duplication of the proximal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009996 UMLS:C4024122 Partial duplication of the innermost pinky finger bone|Partial duplication of the innermost little finger bone|Partial duplication of the innermost pinkie finger bone Partial or complete duplication of the fifth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. HP:0008665 Clitoral hypertrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008665 SNOMEDCT_US:80212005|UMLS:C0156394 Prominent clitoris|Clitoromegaly|Hypertrophic clitoris|Clitoral enlargement|Enlarged clitoris Hypertrophy of the clitoris. HP:0008660 Renotubular dysgenesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008660 SNOMEDCT_US:702397002|UMLS:C0266313|MSH:C537048 Renal tubular dysgenesis A developmental defect characterized by absence or poor development of proximal renal tubules. HP:0009991 Complete duplication of the distal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009991 UMLS:C4024126 Complete duplication of the outermost pinkie finger bone|Complete duplication of the outermost little finger bone|Complete duplication of the outermost pinky finger bone Complete duplication of the distal phalanx of little finger. HP:0009990 Duplication of the proximal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009990 UMLS:C4021351 Duplication of the innermost pinkie finger bone|Duplication of the innermost little finger bone|Partial/complete duplication of the proximal phalanx of the 5th finger|Duplication of the innermost pinky finger bone Partial or complete duplication of the fifth proximal phalanx of hand. HP:0007330 Frontal encephalocele biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007330 UMLS:C0431289|SNOMEDCT_US:253103006|MSH:D004677 HP:0009993 Complete duplication of the proximal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009993 UMLS:C4024124 Complete duplication of the innermost pinky finger bone|Complete duplication of the innermost pinkie finger bone|Complete duplication of the innermost little finger bone Complete duplication of the fifth proximal phalanx of hand. HP:0008661 Urethral stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008661 MSH:D014525|SNOMEDCT_US:236647003|UMLS:C0041974|SNOMEDCT_US:76618002 Narrowing of the urethra Abnormal narrowing of the urethra. HP:0009992 Complete duplication of the middle phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009992 UMLS:C4024125 Complete duplication of the middle pinky finger bone|Complete duplication of the middle little finger bone|Complete duplication of the middle pinkie finger bone Complete duplication of the fifth middle phalanx of hand. HP:0006000 Ureteral obstruction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006000 SNOMEDCT_US:20018005|Fyler:4492|UMLS:C0041956|MSH:D014517 Obstruction of the flow of urine through the ureter. HP:0009929 Abnormality of the columella biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009929 UMLS:C4024158 Anomaly of the columella|Deformity of the columella|Malformation of the columella An abnormality of the columella. HP:0009926 Epiphora biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009926 MSH:D007766|SNOMEDCT_US:418035005|SNOMEDCT_US:193982009|UMLS:C0152227 Increased tears|Increased lacrimation|Watery eyes|Tearing Abnormally increased lacrimation, that is, excessive tearing (watering eye). HP:0010926 Aculeiform cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010926 UMLS:C1861832|MSH:C566162 Needle-shaped cataract|Fasciculiform cataract|Frosted 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. HP:0010925 Nuclear punctate cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010925 UMLS:C4023649 HP:0009928 Thick nasal alae biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009928 UMLS:C1844809 Thickening of the alae nasi|Ala nasi, thick Increase in bulk of the ala nasi. HP:0010924 Posterior cortical cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010924 UMLS:C4023650 A cataract that affects the posterior part of the cortex of the lens. HP:0010923 Anterior subcapsular cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010923 SNOMEDCT_US:315352000|UMLS:C1112768 A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule. HP:0009927 Aplasia of the nose biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009927 MSH:C537438|UMLS:C0265740|SNOMEDCT_US:111317000|UMLS:C4280391 Arrhinia|Absent nose|Nasal underdevelopment|Failure of development of nose|Missing nose|Underdevelopment of nose Complete absence of all nasal structures. HP:0010922 Membranous cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010922 MSH:D002386|UMLS:C0524524 A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens. HP:0009922 Vascular remnant arising from the disc biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009922 UMLS:C4024160 Persistence of the hyaloid artery|Persistent hyaloid artery Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. HP:0010921 Coralliform cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010921 UMLS:C1392104 A 'coral-like' pattern of opacity in the lens of the eye. That is, a cataract with an irregular, stellate form. HP:0009921 Duane anomaly biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009921 UMLS:C1846464|UMLS:C4072873|MSH:D004370|UMLS:C0013261|SNOMEDCT_US:60318001 Limited eye motility from Duane anomaly|Globe retraction and deviation on adduction|Limited eye movement from Duane anomaly A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction HP:0009924 Aplasia/Hypoplasia involving the nose biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009924 SNOMEDCT_US:93278002|UMLS:C0685684|UMLS:C4024159|SNOMEDCT_US:204519007|UMLS:C4280392 Decreased nasal size|Hypoplasia of the nose|Decreased size of nose|Hypotrophic nose Underdevelopment or absence of the nose or parts thereof. HP:0010920 Zonular cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010920 MSH:C535342|UMLS:C1861821 Zonular cataracts are defined to be cataracts that affect specific regions of the lens. HP:0009920 Nevus of Ota biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009920 UMLS:C0027961|MSH:D009507|SNOMEDCT_US:414929001|SNOMEDCT_US:254817005 Naevus fuscoceruleus ophthalmomaxillaris|Nevus fuscoceruleus ophthalmomaxillaris|Oculodermal melanocytosis|Congenital melanosis bulbi A dermal melanocytic hamartoma that presents as bluish hyperpigmentation on the face along the first or second branches of the trigeminal nerve. Nevus of Ota may involve the sclera. HP:0010929 Abnormal blood cation concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010929 UMLS:C4023646 Abnormality of cation homeostasis An abnormality of cation homeostasis. HP:0010928 obsolete Increased urinary orotic acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010928 HP:0010927 Abnormal blood inorganic cation concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010927 UMLS:C4023648 Abnormality of divalent inorganic cation homeostasis An abnormality of divalent inorganic cation homeostasis. HP:0008609 Morphological abnormality of the middle ear biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008609 UMLS:C1857456 Morphological abnormality of the middle ear|Middle ear malformation An abnormality of the morphology or structure of the middle ear. HP:0008606 Supraauricular pit biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008606 UMLS:C1862059 Pit above the ear|Supraauricular sinuses|Supraauricular fistula|Supraauricular sinus Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit. HP:0009937 Facial hirsutism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009937 UMLS:C2128203|UMLS:C1850041 Excessive face hair Excess facial hair. HP:0010915 Abnormal circulating pyruvate family amino acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010915 UMLS:C4023655 Abnormality of pyruvate family amino acid metabolism An abnormality of a pyruvate family amino acid metabolic process. HP:0009936 Narrow nasal septum biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009936 UMLS:C4024155 Narrow septum of nose|Thin nasal septum|Narrow nasal septum|Thin septum of nose|Decreased width of nasal septum Abnormally narrow nasal septum. HP:0010914 Abnormal circulating valine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010914 UMLS:C4023656 Abnormality of valine metabolism Any deviation from the normal circulation of valine in the blood circulation. HP:0008605 Unilateral external ear deformity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008605 UMLS:C1834043 Deformed external ear on one side HP:0009939 Mandibular aplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009939 UMLS:C0685776|UMLS:C4021371|UMLS:C0685775|SNOMEDCT_US:91896009|SNOMEDCT_US:91922000 Agenesis of the mandible|Absence of lower jaw|Failure of development of lower jaw|Aplasia of the lower jaw bone|Absence of lower jaw bones|Absent mandible|Agnathia|Absence of mandible|Missing lower jaw|Failure of development of mandible|Absence of lower jaw bone Absence of the mandible. HP:0008608 Hypertrophic auricular cartilage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008608 UMLS:C1857263 HP:0010913 Hyperisoleucinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010913 UMLS:C4023657 High blood isoleucine concentration An increased concentration of isoleucine in the blood. HP:0010912 Abnormal circulating isoleucine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010912 UMLS:C4023658 Any deviation from the normal concentration of isoleucine in the blood circulation. HP:0009938 Sunken cheeks biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009938 UMLS:C4024154 Hollow cheeks|Sunken cheeks|Depressed cheeks Lack or loss of the soft tissues between the zygomata and mandible. HP:0008607 Progressive conductive hearing impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008607 UMLS:C1861325 Progressive conductive deafness A progressive type of conductive deafness. HP:0010911 Hyperleucinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010911 UMLS:C0268576|SNOMEDCT_US:24013007 High blood leucine concentration An increased concentration of leucine in the blood. HP:0009933 Narrow naris biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009933 UMLS:C4280390|UMLS:C0426436|UMLS:C1849366|SNOMEDCT_US:249336003|UMLS:C0426439|SNOMEDCT_US:249339005 Narrow nares|Thin nares|Small nostrils|Narrow nostrils|Collapsed nostrils|Slit-like nostrils|Naris, narrow|Thin nostrils|Naris, slit-like Slender, slit-like aperture of the nostril. HP:0009932 Single naris biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009932 SNOMEDCT_US:95266003|UMLS:C0685682 Single nostril|Mono nostril|Single nare|One nostril The presence of only a single nostril. HP:0010910 Hypervalinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010910 SNOMEDCT_US:47719001|MSH:C536524|UMLS:C0268573 High blood valine concentration An increased concentration of valine in the blood. HP:0009935 Aplasia/Hypoplasia of the nasal septum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009935 UMLS:C4024156 Underdevelopment of nasal septum|Ageneis of nasal septum|Failure of development of nasal septum Absence or underdevelopment of the nasal septum. HP:0009934 Supernumerary naris biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009934 UMLS:C4021372 Extra nostril|Accessory nares|Supernumerary nostrils|Accessory nostril|Supernumerary nares The presence of more than two nostrils. HP:0009931 Enlarged naris biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009931 SNOMEDCT_US:399353008|UMLS:C0426440 Enlarged nostril|Broad nostril|Increased diameter of nostril|Naris, broad|Enlarged nares|Increased diameter of nares|Dilated nostril|Increased width of nares|Large nares|Wide nares|Dilated nares|Naris, enlarged|Wide nostril Increased aperture of the nostril. HP:0009930 Asymmetry of the nares biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009930 UMLS:C4024157 Crooked nostrils|Unequal nostril size|Uneven nostril size|Uneven nostril shape|Unequal nostril shape|Asymmetry of nostrils Asymmetry or size difference between the left and right nostril. HP:0010919 Abnormal circulating homocysteine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010919 UMLS:C4023651 An abnormality of a homocysteine metabolic process. HP:0010918 Abnormal circulating cysteine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010918 UMLS:C4023652 An abnormality of a cysteine metabolic process. HP:0010917 Abnormal circulating tyrosine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010917 UMLS:C4023653 Any deviation from the normal concentration of tyrosine in the blood circulation. HP:0010916 Abnormal circulating alanine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010916 UMLS:C4023654 Abnormality of alanine metabolism An abnormality of an alanine metabolic process. HP:0009908 Anterior creases of earlobe biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009908 UMLS:C1851897 Earlobe crease|Transverse earlobe creases Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe. HP:0009907 Attached earlobe biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009907 UMLS:C4021375 Adherent earlobe|Attached earlobe Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward. HP:0009909 Uplifted earlobe biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009909 UMLS:C1856117 Fleshy upturned lobules|Upturned earlobes|Lobe, uplifted|Upturned earlobe|Uplifted earlobes|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. HP:0009904 Prominent ear helix biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009904 UMLS:C4024165|UMLS:C4020776 Large helix Abnormally prominent ear helix. HP:0010904 Abnormal circulating histidine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010904 UMLS:C4023662 Abnormality of histidine metabolism An abnormality of a histidine metabolic process. HP:0010903 Abnormal circulating glutamine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010903 UMLS:C4023663 Any deviation from the normal concentration of glutamine in the blood circulation. HP:0009903 Conjunctival nodule biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009903 SNOMEDCT_US:428477002|UMLS:C1996949 Presence of nodules in the conjunctiva of the eye. HP:0009906 Aplasia/Hypoplasia of the earlobes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009906 UMLS:C1851792 Absent/underdeveloped ear lobes|Absent/small ear lobes Absence or underdevelopment of the ear lobes. HP:0010902 Abnormal circulating glutamine family amino acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010902 UMLS:C4023664 Any deviation from the normal concentration of a glutamine family amino acid in the blood circulation. HP:0009905 Thin ear helix biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009905 UMLS:C4024164 Decreased thickness of the helix of the ear. HP:0010901 Abnormal circulating methionine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010901 UMLS:C4023665 Abnormality of methionine metabolism Any deviation from the normal concentration of methionine in the blood circulation. HP:0009900 Unilateral deafness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009900 UMLS:C2607947|MSH:D046088|SNOMEDCT_US:162342008 Deafness in one ear|Deafness, unilateral A unilateral absence of sensory perception of sound. HP:0010900 Abnormal circulating threonine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010900 UMLS:C4023666 Abnormality of threonine metabolism Any deviation from the normal concentration of threonine in the blood circulation. HP:0009902 Cleft helix biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009902 UMLS:C4021376 Notching of the ear helix|Notched helix A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length. HP:0009901 Crumpled ear biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009901 UMLS:C4024166 Crumpled ear Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds. HP:0010909 Abnormal circulating arginine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010909 UMLS:C4023659 Abnormality of arginine metabolism Any deviation from the normal concentration of arginine in the blood circulation. HP:0010908 Abnormal circulating lysine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010908 UMLS:C4023660 Abnormality of lysine metabolism Any deviation from the normal concentration of lysine in the blood circulation. HP:0010907 Abnormal circulating proline concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010907 UMLS:C4023661 Any deviation from the normal concentration of proline or a proline metabolite in the blood circulation. HP:0010906 Hyperhistidinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010906 UMLS:C0220992|MSH:C538320|SNOMEDCT_US:124628005|SNOMEDCT_US:410058007 Histidinemia|High blood histidine level An increased concentration of histidine in the blood. HP:0010905 obsolete Abnormality of histidine metabolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010905 HP:0009919 Retinoblastoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009919 UMLS:C0035335|SNOMEDCT_US:127002001|UMLS:C0524801|MSH:D012175|SNOMEDCT_US:370967009|NCIT:C7541|SNOMEDCT_US:19906005|MSH:D019572 Retina tumor A tumor of the eye originating from cells of the retina. HP:0009918 Ectopia pupillae biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009918 SNOMEDCT_US:392461003|MSH:C536185|SNOMEDCT_US:193523008|UMLS:C1271219 Displaced pupil|Corectopia A malposition of the pupil owing to a developmental defect of the iris. HP:0009915 Corneal asymmetry biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009915 UMLS:C4021373 Asymmetry of the corneas The presence of a size difference between the left and right cornea. HP:0009914 Cyclopia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009914 UMLS:C0266667|SNOMEDCT_US:205798005|MSH:C562573 Single central eye|Cyclops eye Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose. HP:0009917 Persistent pupillary membrane biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009917 SNOMEDCT_US:95500008|UMLS:C0344541 The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil. HP:0009916 Anisocoria biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009916 SNOMEDCT_US:13045009|UMLS:C0003079|MSH:D015875 Unequal pupil dilatation|Unequal pupil size|Asymmetry of the pupils|Asymmetric pupil sizes Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease. HP:0009911 Abnormal temporal bone morphology biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009911 UMLS:C4024163 Abnormality of the temporal bone Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple. HP:0009910 Aplasia of the middle ear ossicles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009910 UMLS:C4021374 Absent middle ear ossicles|Absent middle ear bones Absence of the middle ear ossicles, malleus, incus, and stapes. HP:0009913 Aplasia/Hypoplasia of the tragus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009913 UMLS:C4024161 Absent/underdeveloped tragus|Absent/small tragus Aplasia or developmental hypoplasia of the tragus. HP:0009912 Abnormality of the tragus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009912 UMLS:C4024162 An abnormality of the tragus. HP:0200136 Oral-pharyngeal dysphagia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200136 SNOMEDCT_US:71457002|UMLS:C0267071|MSH:D003680 Oropharyngeal dysphagia|Oral pharyngeal dysphagia HP:0200135 obsolete Macrocephaly due to hydrocephalus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200135 HP:0200134 Epileptic encephalopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200134 UMLS:C0543888 Convulsive encephalopathy A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death. HP:0200133 Lumbosacral meningocele biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200133 UMLS:C2675557 HP:0200138 Bilateral choanal atresia/stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200138 UMLS:C4021884 HP:0200143 Megaloblastic erythroid hyperplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200143 UMLS:C1850020|UMLS:C1334688 Bone marrow biopsy shows megaloblastic erythroid hyperplasia HP:0200141 Small, conical teeth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200141 UMLS:C4280284|UMLS:C1851883|UMLS:C4280285 Small, cone shaped teeth|Small, peg shaped teeth|Small, pointed teeth|Conical microdontia HP:0200147 Neuronal loss in basal ganglia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200147 UMLS:C2750913 A reduction in the number of nerve cells in the basal ganglia. HP:0200146 Mucoid extracellular matrix accumulation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200146 MSH:C536230|SNOMEDCT_US:42182000|UMLS:C0392775|SNOMEDCT_US:45894003|SNOMEDCT_US:234021009 MEMA|Cystic medial necrosis of the aorta An increase of medial mucoid extracellular matrix creating translamellar and/or intralamellar expansions including extracellular pools as noted on an H&E stain and/or a stain to highlight extracellular matrix material (Movat's pentachrome, Alcian blue, etc.). HP:0200144 obsolete Anaphylactoid purpura biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200144 HP:0200149 CSF lymphocytic pleiocytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200149 UMLS:C0427877|SNOMEDCT_US:167719009 CSF lymphocytosis An increased lymphocyte count in the cerebrospinal fluid. HP:0200148 Abnormal liver function tests during pregnancy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200148 UMLS:C2750654|UMLS:C4021883 Abnormal liver function tests during pregnancy, resolves postpartum|Abnormal liver function tests during pregnancy HP:0200114 Metabolic alkalosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200114 UMLS:C0220983|SNOMEDCT_US:1388004 Metabolic alkalosis is defined as a disease state where the pH is elevated to greater than 7.45 secondary to some metabolic process. HP:0200113 Aphalangy of hands and feet biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200113 UMLS:C4021887 Aphalangy, hands and feet HP:0200111 Absent stapes head biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200111 UMLS:C4021888 HP:0200118 Malabsorption of Vitamin B12 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200118 UMLS:C1850013|UMLS:C0750292 Vitamin B12 deficiency caused by intestinal malabsorption|Malabsorption of cyanocobalamin HP:0200117 Recurrent upper and lower respiratory tract infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200117 UMLS:C1842777 Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections. HP:0200116 Distal ileal atresia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200116 UMLS:C3279409 HP:0200119 Acute hepatitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200119 SNOMEDCT_US:37871000|UMLS:C0267797 Acute liver inflammation Acute hepatic injury resulting from inflammation typically accompanied by increased serum alanine transaminase activity. Etiologies include viral hepatitis, drugs, toxins, and autoimmune disorders. HP:0200120 Chronic active hepatitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200120 SNOMEDCT_US:197284004|MSH:D006521|UMLS:C0520463 Hepatitis, chronic active Chronic hepatitis associated with recurrent clinical exacerbations, extrahepatic manifestations, and progression to cirrhosis. HP:0200125 Mitochondrial respiratory chain defects biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200125 UMLS:C2751582 HP:0200124 Chronic hepatitis due to cryptosporidium infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200124 UMLS:C3808820 Hepatitis, chronic, due to cryptosporidium infection Chronic hepatitis associated with infection by cryptosporidia, as demonstrated (for example) by immunohistochemistry of liver tissue. HP:0200123 Chronic hepatitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200123 SNOMEDCT_US:76783007|MSH:D006521|UMLS:C0019189 Chronic liver inflammation Hepatitis that lasts for more than six months. HP:0200122 Atypical or prolonged hepatitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200122 UMLS:C1848456 Atypical or prolonged liver inflammation HP:0200129 obsolete Calcific mitral stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200129 HP:0200128 Biventricular hypertrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200128 UMLS:C0281788 Thickening of the heart walls in both ventricles. HP:0200127 Atrial cardiomyopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200127 UMLS:C4021885 Any complex of structural, architectural, contractile or electrophysiological changes affecting the atria with the potential to produce clinically relevant manifestations. HP:0200126 obsolete Amyloid cardiomyopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200126 HP:0032270 Optic nerve tram-track sign biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032270 A tram-track sign is composed of two enhancing areas of tumor separated from each other by the negative defect of the optic nerve. It is seen on contrast-enhanced CT scan and MRI images, in optic nerve sheath meningioma. The sign helps distinguish between optic nerve sheath meningioma and optic glioma. Optic glioma arises from glial cells within the optic nerve and there is no clear separation between the nerve and the tumor; hence the tram-track sign is not seen in optic gliomas. Calcification may be seen in optic nerve sheath meningiomas in 20-50% of cases and hence the tram-track sign may be seen on nonenhanced CT scan images as a linear calcification around the nerve, but this is less common. HP:0032271 Extrapulmonary tuberculosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032271 Extrapulmonary TB A type of tubercular infection located outside of the lung, which is the most common location of tuberculosis. There are two types of clinical manifestation of tuberculosis (TB) are pulmonary TB (PTB) and extrapulmonary TB (EPTB). The former is most common. EPTB refers to TB involving organs other than the lungs (e.g., pleura, lymph nodes, abdomen, genitourinary tract, skin, joints and bones, or meninges). A patient with both pulmonary and EPTB is classified as a case of PTB. HP:0032272 Elevated urinary N-acetylaspartic acid level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032272 Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry. HP:0032277 Lozenge-shaped umbilicus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032277 HP:0032278 2-hydroxyglutarate aciduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032278 An increase in the level of 2-hydroxyglutaric acid in the urine. HP:0032273 Increased circulating N-Acetylaspartic acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032273 Increased circulating N-acetyl-L-aspartic acid level|Increased circulating N-acetyl aspartic acid level|Increased circulating NAA level|Increased circulating N-acetyl aspartate level|Increased circulating N-acetylaspartate level An abnormally increased concentration of N-Acetylaspartic acid in the blood circulation. HP:0032274 Increased CSF N-Acetylaspartic acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032274 Increased N-acetyl-L-aspartic acid levels in CSF|Increased NAA levels in CSF|Increased N-acetylaspartate levels in CSF|Increased N-acetyl aspartic acid levels in CSF|Increased N-acetyl aspartate levels in CSF An abnormally increased concentration of N-Acetylaspartic acid in the cerebrospinal fluid (CSF). HP:0032275 Recurrent shingles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032275 Repeated episodes of a localized, painful cutaneous eruption related to reactivation of varicella zoster virus (VZV) and characterized by a characteristic rash in one or two adjacent dermatomes. HP:0032276 Prominent subcalcaneal fat pad biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032276 Abnormally increased prominence of the fat pad underneath the heal. This feature can be appreciated in figure 1 of PMID:26769062. HP:0032281 Abnormal base excess biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032281 Deviation from the normal quantity of base excess, defined as the amount of strong acid (in millimoles per liter) that needs to be added in vitro to 1 liter of fully oxygenated whole blood to return a blood sample to standard conditions (pH of 7.40, Pco2 of 40 mm Hg, and temperature of 37 degrees C). HP:0032282 Contact dermatitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032282 An inflammatory process in skin caused by an exogenous agent that directly or indirectly injure the skin. If the offending agent is identified and removed, the eruption will resolve. An unusual or patterned eruption may be a clue to the presence of a contact dermatitis. Patch testing may be helpful in the differential diagnosis. HP:0032283 Disseminated nontuberculous mycobacterial infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032283 An infection with nontuberculous mycobacteria that affects multiple body sites. Such infections can occur in individuals with immune disease. HP:0032288 Polyclonal elevation of circulating IgG biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032288 An increase in polyclonal immunoglobulins resulting from many different plasma cells. On serum electrophoresis, a polyclonal gammopathy is characterized by a broad diffuse band with one or more heavy chains and kappa and lambda light chains. HP:0032289 Oligoclonal elevation of circulating IgG biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032289 An increase in circulating immunoglobulins characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. HP:0200102 Sparse or absent eyelashes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200102 UMLS:C3551431|UMLS:C1835157|UMLS:C1862855 Sparse or absent eyelashes|Sparse to absent eyelashes|Partial to total absence of eyelashes HP:0200101 Decreased/absent ankle reflexes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200101 UMLS:C1850816 Decreased/absent ankle reflexes|Decreased or absent ankle reflexes HP:0200107 Shortened inner dynein arms biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200107 UMLS:C4021890 HP:0032284 Ultra-low vision with retained motion projection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032284 Ultra-low vision but with retained ability to identify a moving object (typically hand motion at distance of 30 cm). HP:0200106 Absent/shortened dynein arms biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200106 UMLS:C4021891 HP:0032285 Ultra-low vision with retained light projection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032285 Ultra-low vision but with retained ability to perceive the difference between light and dark. Also when light is projected in each of the four quadrants of the visual field, the individual is able to correctly identify the origin of the light stimulus. HP:0200105 Absent fifth toenail biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200105 UMLS:C4021892 Absent fifth toenail|Missing fifth toenail HP:0032286 Ultra-low vision with retained light perception biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032286 Ultra-low vision but with retained ability to perceive the difference between light and dark. HP:0200104 Absent fifth fingernail biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200104 UMLS:C4020917 Absent nail of fifth finger|Absent fifth fingernail Absence of nail of little finger. HP:0032287 Ultra-low vision with no light perception biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032287 Ultra-low vision with complete lack of light and form perception. HP:0200109 Absent/shortened outer dynein arms biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200109 UMLS:C2750161 Respiratory cilia have shortened or absent outer dynein arms HP:0200108 Shortened outer dynein arms biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200108 UMLS:C4021889 HP:0032291 Monoclonal elevation of intact IgG biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032291 A type of monoclonal elevation of IgG in which the involved immunoglobulin has a normal structure with a light and heavy chain. HP:0032292 Monoclonal elevation of IgG light chain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032292 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. HP:0032293 Monoclonal elevation of IgG heavy chain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032293 A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a heavy chain but not a light chain. HP:0032294 Monoclonal elevation of IgG kappa chain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032294 A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a kappa light chain but not a heavy chain. HP:0032290 Monoclonal elevation of IgG biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032290 An increase in circulating immunoglobulins characterized by a single band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. HP:0032299 Increased circulating IgG2 level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032299 An abnormally increased concentration of the IgG2 subtype in the blood circulation. HP:0032295 Monoclonal elevation of IgG lambda chain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032295 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. HP:0032296 Increased circulating IgG subclass biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032296 An elevation of circulating IgG level predominantly related to an elevation of one of the four IgG subclasses. HP:0032297 Increased circulating IgG3 level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032297 An abnormally increased concentration of the IgG3 subtype in the blood circulation. HP:0032298 Increased circulating IgG1 level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032298 An abnormally increased concentration of the IgG1 subtype in the blood circulation. HP:0200095 obsolete Anterior open bite biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200095 HP:0009690 Fragmentation of thumb epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009690 UMLS:C4021405 Fragmentation of the epiphyses of the thumb|Fragmentation of end part of long bone of thumb Epiphysis of the thumb having multiple bony fragments. HP:0200094 Frontal open bite biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200094 UMLS:C1857012 HP:0009692 Ivory epiphysis of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009692 UMLS:C4021403 Ivory epiphyses of the thumb|Increased bone density of end part 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. HP:0008361 Corticospinal tract pallor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008361 UMLS:C4024690 HP:0009691 Irregular thumb epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009691 UMLS:C4021404 Irregular epiphyses of the thumb|Irregular end part of thumb long bone Uneven radiographic opacity of the one or more epiphyses of the thumb. HP:0007030 Nonprogressive encephalopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007030 UMLS:C4024950 HP:0008360 Neonatal hypoproteinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008360 UMLS:C4024691 A neonatal decreased concentration of proteins in the blood. HP:0200099 obsolete Peripheral retinal pigmentation abnormalities biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200099 HP:0020006 Ciliary body coloboma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020006 UMLS:C4072884 A coloboma of the ciliary body. HP:0200098 Absent skin pigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200098 UMLS:C2673954 Lack of skin coloration|Absent skin pigmentation Lack of skin pigmentation (coloring). HP:0200097 Oral mucosal blisters biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200097 UMLS:C0853945 Blebs of oral mucosa|Oral mucosa blisters|Oral mucosal blisters|Oral blistering|Blisters of mouth|Bullae of oral mucosa Blisters arising in the mouth. HP:0200096 Triangular-shaped open mouth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200096 UMLS:C1859292 Triangular-shaped open mouth A facial appearance characterized by a permanently or nearly permanently opened mouth, in which the upper lip is tented in a way that the opened mouth has the appearance of a triangle. HP:0010687 Low intestinal alkaline phosphatase biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010687 UMLS:C4023738 Low intestinal ALP An abnormally reduced level of alkaline phosphatase, intestinal type in the blood. HP:0033323 Glomerular capillary wall duplication with cellular interposition biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033323 Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix with interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM. HP:0010686 Low alkaline phosphatase of hepatic origin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010686 UMLS:C4023739 Low ALP of hepatic origin An abnormally reduced level of liver isoforms of alkaline phosphatase in the blood. HP:0033322 Glomerular capillary wall duplication without cellular interposition biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033322 Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix, with or without endocapillary hypercellularity and no evidence of interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM. HP:0010685 Low alkaline phosphatase of renal origin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010685 UMLS:C4023740 Low ALP of renal origin An abnormally reduced level of kidney isoforms of alkaline phosphatase in the blood. HP:0033325 Elevated circulating sebacic acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033325 Increased concentration of sebacic acid in the blood circulation. HP:0010684 Low alkaline phosphatase of bone origin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010684 UMLS:C4023741 Low ALP of bone origin An abnormally reduced level of bone isoforms of alkaline phosphatase in the blood. HP:0033324 Elevated circulating homovanillic acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033324 Increased concentration of homovanillic acid in the blood circulation. HP:0010683 Low tissue non-specific alkaline phosphatase biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010683 UMLS:C4023742 Low tissue non-specific ALP An abnormally reduced level of alkaline phosphatase, tissue-nonspecific isozyme in the blood. HP:0010682 Elevated placental alkaline phosphatase biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010682 UMLS:C4023743 Elevated placental ALP An abnormally increased level of alkaline phosphatase, placental type in the blood. HP:0010681 Elevated intestinal alkaline phosphatase biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010681 UMLS:C4023744 Elevated intestinal ALP An abnormally increased level of alkaline phosphatase, intestinal type in the blood. HP:0033321 Glomerular obsolescence biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033321 Globally sclerotic glomeruli are that are small and without hyalinosis and may appear with collapse of the tuft with collagenization of the urinary space. Bowman's capsule is completely or partially absent and there is no periglomerular fibrosis and glomerular size is decreased by more than 50% compared to all other glomeruli in the same biopsy. Obsolescent glomeruli may appear to be receding into the interstitium. HP:0033320 Mesangial cell loss biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033320 Loss of mesangial cells segmentally or globally. HP:0010680 Elevated alkaline phosphatase of renal origin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010680 UMLS:C4023745 Elevated ALP of renal origin An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. HP:0033327 Nail psoriasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033327 Psoriatic nail abnormality characterized by the presence of neutrophils in the nail bed epithelium, hyperkeratosis with parakeratosis, presence of exudates on the corneal epithelium, focal hypogranulosis and psoriasiform hyperplasia of the nail bed. HP:0033326 Elevated circulating hydroxyphenlyllactic acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033326 An increased concentration of 4-hydroxyphenlyllactic acid in the blood circulation. HP:0007029 Cerebral berry aneurysm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007029 UMLS:C2713497|SNOMEDCT_US:54002007|MSH:D000783 Cerebral saccular aneurysm A small, sac-like aneurysm (outpouching) of a cerebral blood vessel. HP:0010689 Mirror image polydactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010689 SNOMEDCT_US:715440003|MSH:C535689|UMLS:C1851100 Mirror image duplication of digits A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand typically resemble fifth fingers/toes. HP:0033329 Abnormal postural reflex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033329 Abnormal postural reaction Anomaly of the physiological response to maintain the body's posture when movement and position is altered. HP:0010688 Low placental alkaline phosphatase biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010688 UMLS:C4023737 Low placental ALP An abnormally reduced level of alkaline phosphatase, placental type in the blood. HP:0033328 Type II pneumocyte hyperplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033328 Enlargement of type II pneumocytes characterized by qualitative morphologic alterations, including cuboidal shapes, increased nucleocytoplasmic ratio, enlarged nuclei, prominent nucleoli, and various alterations in their nuclear chromatin. HP:0008356 obsolete Combined hyperlipidemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008356 HP:0007024 Pseudobulbar paralysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007024 UMLS:C0033790|MSH:D020828|SNOMEDCT_US:7379000 Pseudobulbar syndrome|Pseudobulbar palsy Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing. HP:0009687 Bracket epiphyses of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009687 UMLS:C4024232 Bracket shaped end part of the thumb bone 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. HP:0009686 Absent epiphyses of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009686 UMLS:C4024233 Absence of one or more epiphyses of the thumb. HP:0008358 Hyperprolinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008358 UMLS:C0268528|SNOMEDCT_US:59655002 Prolinemia An increased concentration of proline in the blood. HP:0009689 Enlarged thumb epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009689 UMLS:C4021406 Enlarged end part of thumb long bone|Enlarged epiphyses of the thumb Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms. HP:0009688 Cone-shaped epiphysis of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009688 UMLS:C4021407 Cone-shaped end part of thumb long bone|Cone-shaped epiphyses of the thumb|Cone-shaped thumb epiphyses 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. HP:0008357 Reduced factor XIII activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008357 UMLS:C4024692 Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot. HP:0007027 Poorly formed metencephalon biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007027 UMLS:C4024951 A morphological abnormality of the metencephalon. HP:0009683 Small epiphysis of the distal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009683 UMLS:C4024236 Small end part of thumb outermost bone Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms. HP:0008352 Impaired platelet adhesion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008352 UMLS:C4024694 Impaired thrombocytes 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. HP:0007020 Progressive spastic paraplegia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007020 UMLS:C1855483 HP:0009682 Pseudoepiphysis of the distal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009682 UMLS:C4024237 Pseudoepiphysis of the outermost bone of the thumb A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the distal phalanx of the thumb. HP:0007021 Pain insensitivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007021 UMLS:C0344307|SNOMEDCT_US:38433004 Absence of pain sensation Inability to perceive painful stimuli. HP:0009685 Triangular epiphysis of the distal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009685 UMLS:C4024234 Triangular epiphysis of the outermost bone of the thumb|Triangular end part of thumb outermost bone A triangular appearance of the epiphysis of the distal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. HP:0008354 Factor X activation deficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008354 UMLS:C4024693 Reduced ability to transform factor X into its activated form factor Xa. HP:0009684 Stippling of the epiphysis of the distal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009684 UMLS:C4024235 Speckled calcifications in the end part of the outermost thumb bone The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb. HP:0008353 Neutral hyperaminoaciduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008353 UMLS:C1856194 The presence of an abnormally increased concentration of neutral amino acids in the urine. The neutral amino acids are tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine. HP:0007023 Antenatal intracerebral hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007023 UMLS:C1837247 Antenatal intracerebral haemorrhage Cerebral hemorrhage that occurs before birth. HP:0008372 Abnormality of vitamin A metabolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008372 UMLS:C4024686 HP:0008371 Abnormal metatarsal ossification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008371 UMLS:C4021543 Abnormal ossification involving metatarsal bones|Abnormal maturation of long bone of foot 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. HP:0007041 Chronic lymphocytic meningitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007041 SNOMEDCT_US:230154004|UMLS:C0393441 Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF). HP:0033334 Abnormal embryonic development biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033334 An anomaly in the development of the embryo, that is, of the early developmental stage of development that follows the fertilization of an egg by sperm. HP:0032002 Orange urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032002 An abnormal orange color of urine. HP:0010676 Mechanical ileus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010676 UMLS:C0400843|SNOMEDCT_US:46420000 HP:0010675 Abnormal foot bone ossification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010675 UMLS:C4021241|UMLS:C4020768|UMLS:C4280367 Abnormal ossification involving bones of the feet|Abnormal maturation of foot bones|Abnormality of the mineralisation and ossification of bones of the feet An abnormality of the formation and mineralization of any bone of the skeleton of foot. HP:0032003 Green urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032003 An abnormal green color of urine. HP:0033333 Jaw contracture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033333 Limitation of motion of the jaw due to structural changes in a muscle such as the massseter responsible for jaw movement. HP:0032004 Pruritus vulvae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032004 A sensation of itching in the vulvar region. HP:0010674 Abnormality of the curvature of the vertebral column biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010674 UMLS:C4023747 Abnormal curve of the backbone|Curved spine|Abnormal curve of the spine|Curvature of spine|Abnormal curving of the spine The presence of an abnormal curvature of the vertebral column. HP:0033336 Zygotic cleavage failure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033336 Failure of zygotic cell division Failure of a fertilized oocyte to undergo the first round of cell division. HP:0033335 Abnormal preimplantation embryonic development biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033335 An anomaly in the development of the embryo in a stage prior to implantation. HP:0032005 Hemidystonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032005 Hemidystonia refers to dystonia which involves the ipsilateral face, arm, and leg. HP:0033330 Impaired neck-righting reflex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033330 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. HP:0010672 Abnormality of the third metatarsal bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010672 UMLS:C4023748 Abnormality of the 3rd long bone of foot An abnormality of the third metatarsal bone. HP:0033332 Elevated circulating amyloid A biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033332 An increased concentration of serum amyloid A in the blood circulation. HP:0032000 Pleural rub biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032000 An abnormal breath sound that is nonmusical, short and explosive. It is grating, rubbing, creaky, or leathery in character and present in both phases of respiration. Typically the expiratory component mirrors the inspiratory component. It occurs due to inflamed pleural surface rubbing each other during breathing. Clinically, it is important to differentiate it from crackles HP:0032001 Pink urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032001 An abnormal pink color of urine. HP:0033331 Acute phase response biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033331 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. HP:0033338 Abnormal female meiosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033338 Anomalous oocyte meiosis HP:0007039 Symmetric lesions of the basal ganglia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007039 UMLS:C4024947 HP:0032006 Lip tremor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032006 An unintentional, oscillating to-and-fro muscle movement affecting the lip. HP:0032007 Maceration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032007 Maceration of the skin|Skin 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. HP:0033337 Abnormal gametogenesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033337 An anomaly in the process by a a haploid cell is formed from a diploid cells through meiosis. In males, diploid spermatogonia produce two haploid cells (secondary spermatocytes) in meiosis I and four haploid spermatids in meiosis II. In females, primordial germ cells under meiosis II before birth to form primary oocytes. Once puberty cell begins, these cells form secondary oocytes through meiosis II. HP:0010679 Elevated tissue non-specific alkaline phosphatase biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010679 UMLS:C4021240 Elevated alkaline phosphatase, liver/bone/kidney|Elevated tissue non-specific ALP An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood. HP:0032008 Pulmonary fat embolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032008 Fat embolism The release of fat globules into the venous circulation, thereby blocking blood circulation to the lung. HP:0010678 Enuresis diurna biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010678 UMLS:C4023746 Enuresis occurring during waking hours of the day. HP:0010677 Enuresis nocturna biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010677 UMLS:C0270327|SNOMEDCT_US:8009008|MSH:D053206 Nocturnal enuresis Enuresis occurring during sleeping hours. HP:0033339 Increased circulating inosine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033339 An increased concentration of inosine in the blood circulation. HP:0032009 Infantile constant exotropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032009 Infantile (constant) exotropia Constant exotropia occurring before 6 months of age.; often associated with a large angle of deviation and ocular/CNS abnormalities. HP:0007035 Anterior encephalocele biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007035 UMLS:C4024948 HP:0009697 Contracture of the distal interphalangeal joint of the fingers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009697 UMLS:C4024230 Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers. HP:0008366 Contractures involving the joints of the feet biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008366 SNOMEDCT_US:239742004|UMLS:C0343149 Contractures of the foot joints HP:0007036 Hypoplasia of olfactory tract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007036 UMLS:C1856655 Underdeveloped olfactory tract HP:0008369 Abnormal tarsal ossification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008369 UMLS:C4021544|UMLS:C4025075 Hardening of ankle bones|Abnormal maturation of ankle bones|Abnormal ossification of tarsal bones An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. HP:0008368 Tarsal synostosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008368 SNOMEDCT_US:27173008|MSH:D000070604|UMLS:C0265654 Fused ankle bones|Tarsal fusion|Tarsal bone synostosis|Synostosis of tarsal bones|Tarsal bone fusion|Tarsal fusions|Synostosis involving tarsal bones Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones). HP:0009699 Osteolytic defects of the hand bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009699 UMLS:C4021400 Lytic defects of hand bones HP:0008363 Aplasia/Hypoplasia of the tarsal bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008363 UMLS:C1848671 Absent/small ankle bone|Absent/underdeveloped ankle bone|Aplastic/hypoplastic tarsals Absence or underdevelopment of the tarsal bones. HP:0009694 Small thumb epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009694 UMLS:C4021402 Small end part of thumb long bone|Small epiphyses of the thumb Abnormally small size of one or more of the epiphyses of the thumb with respect to age-dependent norms. HP:0008362 Aplasia/Hypoplasia of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008362 UMLS:C1836213 Absent/underdeveloped big toe|Absent/small big toe|Aplastic/hypoplastic halluces Absence or underdevelopment of the big toe. HP:0009693 Pseudoepiphysis of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009693 UMLS:C3552484 Pseudoepiphyses of the thumb A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb. HP:0009696 Triangular epiphyses of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009696 UMLS:C4024231 Triangular end part of the thumb bone HP:0008365 Abnormality of the talus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008365 UMLS:C4024688 Abnormal large bone of ankle An abnormality of the talus. HP:0007033 Cerebellar dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007033 UMLS:C3278322 The presence of dysplasia (abnormal growth or development) of the cerebellum. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. HP:0008364 Abnormality of the calcaneus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008364 UMLS:C4024689 Abnormal heel bone An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel. HP:0009695 Stippling of thumb epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009695 UMLS:C4021401 Speckled calcifications in end part of thumb bone|Stippling of the epiphyses of the thumb The presence of abnormal punctate (speckled, dot-like) calcifications in one or more of the epiphyses of the thumb. HP:0007034 Generalized hyperreflexia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007034 UMLS:C4024949 Generalised hyperreflexia HP:0200073 Respiratory insufficiency due to defective ciliary clearance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200073 UMLS:C3552099 HP:0011990 Abnormality of neutrophil physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011990 UMLS:C4023093 A functional abnormality of neutrophils. HP:0200072 Episodic quadriplegia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200072 UMLS:C1863062 Quadriplegia, episodic Intermittent episodes of paralysis of all four limbs. HP:0011991 Abnormal neutrophil count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011991 UMLS:C4023092 Abnormal neutrophil cell number A deviation from the normal range of neutrophil cell counts in the circulation. HP:0200071 Peripheral vitreoretinal degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200071 UMLS:C3280349 A type of vitreoretinal degeneration with manifestations that are concentrated at the periphery of the retina. HP:0009670 Ivory epiphysis of the proximal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009670 UMLS:C4024247 Increased bone density of end part of the innermost bone of the thumb Sclerosis of the epiphysis of the proximal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. HP:0011992 Abnormality of neutrophil morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011992 UMLS:C4023091 An abnormal form or size of neutrophils. HP:0200070 Peripheral retinal atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200070 UMLS:C3553016 Wasting of the outer part of the retina HP:0011993 Impaired neutrophil bactericidal activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011993 UMLS:C4023090 A reduction in the ability of neutrophils to kill bacteria. HP:0011994 Abnormal atrial septum morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011994 UMLS:C0344722|Fyler:2002|SNOMEDCT_US:253363004 Abnormal interatrial septum morphology|Abnormality of the atrial septum An abnormality of the interatrial septum. HP:0011995 Atrial septal dilatation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011995 UMLS:C0521533|SNOMEDCT_US:95440004 Atrial septal aneurysm A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography. HP:0011996 Elevated coagulation factor V activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011996 UMLS:C4021106 Plasma factor V elevated|Elevated factor V activity Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex. HP:0010665 Bilateral coxa valga biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010665 UMLS:C3810018 The presence of bilateral coxa valga. HP:0032013 Hypermetric horizontal saccades biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032013 Overshoot of horizontal (sideways) saccadic eye movements. HP:0033345 Neuralgia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033345 Pain (An unpleasant sensory and emotional experience) along the course of a nerve. HP:0010664 Fusion of the left and right thalami biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010664 UMLS:C1834930|UMLS:C4020769 Fused thalami|Fusion of thamali|Undivided thalami A developmental defect characterized by fusion of the left and right halves of the thalamus. HP:0033344 Pleural cobblestoning biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033344 A pleural cobblestone appearance characterized by irregular bumps surrounded by depressed lines in open lung biopsy. Caused by underlying scarring causing retraction of the interlobular septa where they insert on the pleura. HP:0032014 Dysmetric vertical saccades biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032014 Inaccurate saccades (rapid movement of the eye between fixation points) in the vertical direction. HP:0010663 Abnormality of thalamus morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010663 UMLS:C4021243 Abnormal shape of thalamus|Abnormality of the thalamus An abnormality of the thalamus. HP:0032015 Dysmetric horizontal saccades biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032015 Inaccurate saccades (rapid movement of the eye between fixation points) in the horizontal direction. HP:0033347 Cognitive epileptic aura biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033347 A purely subjective manifestation of an epileptic seizure pertaining to altered cognition. HP:0010662 Abnormality of the diencephalon biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010662 UMLS:C4023752 An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain. HP:0033346 Psychic epileptic aura biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033346 Aura with affective, mnemonic or composite perceptual phenomena including illusory or composite hallucinatory events. HP:0032016 Abnormal sputum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032016 Abnormal sputum morphology Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin. HP:0010661 Absence of the third cerebral ventricle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010661 UMLS:C4023753 A developmental defect characterized by the absence of the Third ventricle. HP:0033341 Elevated circulating sitosterol concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033341 Elevated circulating beta-sitosterol concentration An increased concentration of beta-sitosterol in the blood circulation. HP:0032010 Basic constant exotropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032010 Basic (constant) exotropia Constant exotropia for near and distance, presenting after 6 months of age. HP:0010660 Abnormal hand bone ossification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010660 UMLS:C4021244 Abnormality of the mineralisation and ossification of bones of the hand|Abnormal maturation of the hand bones|Abnormal ossification of hand bones An abnormality of the formation and mineralization of any bone of the skeleton of hand. HP:0033340 Increased circulating guanosine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033340 Increased concentration of guanosine in the blood circulation. HP:0032011 Heterophoria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032011 Heterophorias are latent deviations that are controlled by fusion. In certain circumstances (specific visual tasks, fatigue, illness, etc.), fusion can no longer be maintained and decompensation occurs. HP:0033343 Mucoid diarrhea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033343 Mucous diarrhea Passage of an increased number of stools containing mucus, a thick fluid substance secreted by mucous membranes. HP:0033342 Anti-aquaporin 4 antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033342 Anti-AQP4 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against aquaporin-4. HP:0032012 Heterotropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032012 Manifest deviation of the visual axes not controlled by fusion. HP:0009669 Irregular epiphysis of the proximal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009669 UMLS:C4024248 Irregular end part of thumb innermost long bone Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. HP:0010669 Hypoplasia of the zygomatic bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010669 UMLS:C4280369|UMLS:C4280368|UMLS:C4072879|UMLS:C4280370|UMLS:C4021242 Underdevelopment of cheekbone|Small cheekbone|Hypoplasia of cheekbone|Decreased size of cheekbone|Flattening of the zygomatic bone|Small malar bone|Cheekbone underdevelopment|Hypotrophic zygomatic bone|Depressed cheekbone|Underdevelopment of zygomatic bone|Hypotrophy of the cheekbone|Decreased size of zygomatic bone|Hypotrophy of the zygomatic bone|Hypotrophic cheekbone|Small zygomatic bone|Depressed zygomatic bone Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch. HP:0032017 Sputum eosinophilia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032017 An increased proportion of eosinophils in sputum in the differentiated cell count. HP:0033349 Seizure cluster biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033349 Crescendo seizures|Recurrent seizures|Seizure flurries|Cyclical seizures|Serial seizures|Acute repetitive seizures A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognisable by the primary clinician, carer or patient. HP:0008338 Partial functional complement factor D deficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008338 UMLS:C4024699 Partial functional adipsin deficiency|Partial functional factor d deficiency A partial reduction in level of the complement component Factor D in circulation. HP:0007006 Dorsal column degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007006 UMLS:C4024953 HP:0010668 Abnormality of the zygomatic bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010668 UMLS:C4023749 Deformity of the zygomatic bone|Malformation of the zygomatic bone|Abnormality of the cheekbone|Anomaly of the zygomatic bone|Deformity of the cheekbone An abnormality of the zygomatic bone. HP:0032018 Multiple mononeuropathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032018 Mononeuritis multiplex A type of peripheral neuropathy that happens when there is damage to two or more different nerve areas characterized by peripheral neuropathy of both the motor and sensory nerves of at least two different nerve trunks. Different nerves are affected either simultaneously or sequentially. HP:0033348 Epileptic aura biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033348 An epileptic aura is a purely subjective clinical manifestation of an epileptic seizure. If an epileptic aura is not followed by loss of awareness or propagation to a bilateral tonic-clonic seizure then it is a type of focal aware non-motor seizure. HP:0007007 Cavitation of the basal ganglia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007007 UMLS:C4024952 The formation of small cavities in the tissue of the basal ganglia. HP:0009668 Fragmentation of the epiphysis of the proximal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009668 UMLS:C4024249 Fragmentation of end part of thumb innermost long bone Epiphysis of the proximal phalanx of the thumb having multiple bony fragments. HP:0010667 Aplasia of the maxilla biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010667 UMLS:C4280371|UMLS:C4023750 Absence of the maxilla|Failure of development of upper jaw bones|Missing upper jaw bones|Failure of development of maxilla|Aplasia of the upper jaw bones|Absence of upper jaw bones|Agenesis of the maxilla A congenital defect characterized by absence of the Maxilla. HP:0032019 Muscle eosinophilia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032019 Eosinophilic infiltration of skeletal muscle Eosinophil infiltration of skeletal muscle. HP:0010666 Hypoplasia of the anterior nasal spine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010666 UMLS:C4023751|UMLS:C4280373|UMLS:C4280372 Hypotrophic anterior nasal spine|Decreased size of anterior nasal spine|Underdevelopment of anterior nasal spine|Decreased projection of anterior nasal spine|Decreased length of anterior nasal spine|Small anterior nasal spine|Deficiency of anterior nasal spine Underdevelopment of the anterior nasal spine of maxilla. HP:0008339 Diaminoaciduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008339 UMLS:C4024698 An increased urine level of any amino acid carrying two amino groups (Asparagine, glutamine and lysine, cystine, ornithine). HP:0007009 Central nervous system degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007009 UMLS:C3277687 CNS degeneration HP:0009665 Bracket epiphysis of the proximal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009665 UMLS:C4024252 Bracket shaped end part of thumb innermost long bone An abnormality of the proximal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. HP:0011997 Postprandial hyperlactemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011997 UMLS:C4023089 Abnormally increased level of blood lactate following a meal. HP:0007002 Motor axonal neuropathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007002 UMLS:C1854570|UMLS:C2749625|UMLS:C4020811 Distal motor neuropathy|Length dependent motor neuropathy Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg. HP:0009664 Absent epiphysis of the proximal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009664 UMLS:C4024253 Absent end part of thumb innermost long bone Absence of the epiphysis located at the proximal end of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. HP:0011998 Postprandial hyperglycemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011998 MSH:D006943|UMLS:C1855520 An increased concentration of glucose in the blood following a meal. HP:0011999 Paranoia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011999 MSH:D010259|UMLS:C1456784|SNOMEDCT_US:191667009 Paranoia A persecutory delusion of supposed hostility of others. HP:0009667 Enlarged epiphysis of the proximal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009667 UMLS:C4024250 Enlarged end part of thumb innermost long bone Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. HP:0008336 Complex organic aciduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008336 UMLS:C3151953 HP:0009666 Cone-shaped epiphysis of the proximal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009666 UMLS:C4024251 Cone-shaped end part of thumb innermost long bone 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. HP:0008335 obsolete Renal aminoaciduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008335 MSH:D000608|UMLS:C0002534 HP:0008330 Reduced von Willebrand factor activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008330 UMLS:C4024701 Decreased von willebrand factor activity Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces. HP:0009660 Short phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009660 UMLS:C4021411 Hypoplastic thumb phalanges|Short thumb bone|Short thumb phalanges|Hypoplastic/small phalanges of the thumb Hypoplastic (short) thumb phalanx. HP:0007000 Morning myoclonic jerks biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007000 UMLS:C1847164 HP:0009663 Abnormality of the epiphysis of the proximal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009663 UMLS:C4024254 Abnormality of end part of thumb innermost long bone 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. HP:0009662 Abnormality of the epiphysis of the distal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009662 UMLS:C4021410 Abnormality of the end part of the outermost bone of the thumb|Abnormality of terminal thumb epiphysis Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx. HP:0008331 Elevated creatine kinase after exercise biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008331 UMLS:C4024700 Increased CK after exercise|Elevated CPK after exercise|Increased phospho-creatine kinase after exercise|Elevated CK after exercise|Elevated creatine phosphokinase after exercise|Increased phospho-CK after exercise|Elevated phospho-CK after exercise|Increased creatine kinase after exercise|Elevated phospho-creatine kinase after exercise|Increased creatine phosphokinase after exercise HP:0007001 Loss of Purkinje cells in the cerebellar vermis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007001 UMLS:C1849146 HP:0200084 Giant cell hepatitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200084 UMLS:C0027613|UMLS:C2675624|UMLS:C2673820|UMLS:C4020697|SNOMEDCT_US:69800000 Giant cell hepatitis on biopsy|Giant cell hepatitis on liver biopsy|Giant cell hepatitis shown on biopsy Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver. HP:0200083 Severe limb shortening biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200083 UMLS:C1835446 Severe limb shortening HP:0033350 Elevated forced expiratory volume in one second biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033350 Elevated FEV1 An increase in the amount of air a person can forcefully expel in one second, compared to some standard or previous measure of same subject. HP:0009681 Ivory epiphysis of the distal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009681 UMLS:C4024238 Increased bone density of end part of the outermost bone of the thumb Sclerosis of the epiphysis of the distal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. HP:0011980 Cholesterol gallstones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011980 UMLS:C0856727 Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color. HP:0011981 Pigment gallstones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011981 UMLS:C3278865 Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration. HP:0009680 Irregular epiphysis of the distal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009680 UMLS:C4024239 Irregular end part of thumb outermost bone Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb. HP:0011982 Black pigment gallstones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011982 UMLS:C4023098 A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates. HP:0011983 Brown pigment gallstones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011983 UMLS:C4023097 A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones. HP:0011984 Atretic gallbladder biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011984 UMLS:C3277945 Gallbladder atresia Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia. HP:0200085 Limb tremor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200085 MSH:D014202|UMLS:C0235081 Limb tremor|Involuntary shaking of limb|Tremor of limbs HP:0011985 Acholic stools biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011985 SNOMEDCT_US:70396004|UMLS:C2675627 Discolored, acholic stools|Acholia|Clay colored stools Clay colored stools lacking bile pigment. HP:0010654 Aplasia of the falx cerebri biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010654 UMLS:C4023756 Absent cerebral falx A developmental defect characterized by aplasia of the Falx cerebri. HP:0032024 Ileal ulcer biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032024 An erosion of the mucous membrane in a portion of the ileum. HP:0033356 Elevated circulating o-phosphoserine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033356 An abnormally increased level of o-phosphoserine in the blood circulation. o-phosphoserine is a derivative of serine. HP:0010653 Abnormality of the falx cerebri biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010653 UMLS:C4021247 Abnormality of the cerebral falx An abnormality of the Falx cerebri. HP:0032025 Reduced serum alpha-1-antitrypsin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032025 A reduced concentration of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs. HP:0033355 Increased urine deoxypyridinoline level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033355 Elevated urinary DPD An increased level of deoxypyridinoline in the urine. Deoxypyridinoline is a crosslink product of collagen molecules found in bone and excreted in urine during bone degradation, has been described as a marker of bone turnover. HP:0033358 Abnormal urine osmolality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033358 A deviation from the normal range of concentration of particles in urine. HP:0010652 Abnormal dura mater morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010652 UMLS:C4023757 Abnormality of the dura mater An abnormality of the Dura mater. HP:0032026 Anetoderma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032026 Circumscribed area of flaccid skin due to the loss of elastic tissue in the dermis. HP:0010651 Abnormal meningeal morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010651 UMLS:C4023758 Abnormality of the meninges An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater. HP:0033357 Limited head rotation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033357 Reduced range of motion turning the head side to side. HP:0032027 Retinal dots biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032027 Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size. HP:0010650 Hypoplasia of the premaxilla biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010650 UMLS:C4072878|UMLS:C4020770 Underdevelopment of the premaxilla|Primary palate bone retrusion|Underdevelopment of the primary palate bone|Underdevelopment of premaxilla|Decreased size of premaxilla|Decreased size of the primary palate bone|Premaxillary bone retrusion|Small primary palate bone|Primary palate bone deficiency|Small premaxilla|Hypoplasia of the intermaxillary bone|Premaxillary bone deficiency|Premaxillary underdevelopment|Hypoplasia of the primary palate bone|Premaxillary retrusion An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures. HP:0033352 Pulmonary hypertensive crisis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033352 Pulmonary arterial hypertension 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. HP:0032020 Eosinophilic bladder infiltration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032020 Eosinophilic cystitis Transmural inflammation of the bladder predominantly with eosinophils, associated with fibrosis with or without muscle necrosis. HP:0033351 Candida esophagitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033351 Esophageal candidiasis Candida infections of the esophagus are considered opportunistic infections and are seen most commonly in immunosuppressed patients, the most common symptoms being dysphagia, odynophagia, and retrosternal pain. HP:0032021 Eosinophilic liver infiltration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032021 Eosinophilic hepatitis Cellular infiltration of the liver parenchyma with a preponderance of eosinophils. HP:0032022 Eosinophilic dermal infiltration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032022 Eosinophilic dermatitis Presence of abnormally increased amounts of intraepidermal inflammatory cells with a predominance of eosinophils. HP:0033354 Abnormal urine metabolite level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033354 Any deviation from the normal concentration of a metabolite in urine. HP:0032023 Eosinophilic gallbladder infiltration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032023 Eosinophilic cholecystitis Cellular infiltrate confirmed by a cellular infiltrate comprised of mainly eosinophils in the gallbladder wall on histological examination. HP:0033353 Abnormal blood vessel morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033353 Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein). HP:0010659 Patchy variation in bone mineral density biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010659 UMLS:C4021245 Patchy increased and decreased bone mineral density Patchy (irregular) changes in bone mineral density with patches of bone showing an increased density side to side with patches that are affected by reduction of mineral density. This is sometimes referred to as a moth-eaten appearance on x-rays. HP:0032028 Macular dots biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032028 Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size. HP:0010658 Patchy changes of bone mineral density biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010658 UMLS:C4023754 Patchy (irregular) changes in bone mineral density. These changes can either be patchy reduction or increase of mineral density as seen on x-rays. Depending on the pathomechanism and the underlying disease, these changes can either appear solely as reduction or increase or as a combination of both (patches of bone showing an increased density while others are affected by reduction of mineral density). HP:0007017 Progressive forgetfulness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007017 UMLS:C3277688 Forgetfullness HP:0010657 Patchy reduction of bone mineral density biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010657 UMLS:C4023755 Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays. HP:0007018 Attention deficit hyperactivity disorder biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007018 MSH:D001289|SNOMEDCT_US:406506008|SNOMEDCT_US:7461003|UMLS:C1263846 Attention deficit|Childhood attention deficit/hyperactivity disorder|Attention deficit disorder|Attention deficits|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. HP:0009679 Fragmentation of the epiphysis of the distal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009679 UMLS:C4024240 Fragmentation of end part thumb outermost long bone Epiphysis of the distal phalanx of the thumb having multiple bony fragments. HP:0032029 Floppy eyelid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032029 Excessive eyelid tissue laxity, typically affecting both upper eyelids and associated with spontanteous tarsal eversion during sleep. It is more common in the obese, it may be associated with obstructive sleep apnea and it may result in corneal exposure or chronic papillary conjunctivitis. HP:0033359 Hyperosthenuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033359 An abnormally high urinary specific gravity, i.e., increased concentration of solutes in the urine. HP:0008348 Decreased circulating IgG2 level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008348 UMLS:C4021545 Immunoglobulin IgG2 deficiency|Decreased IgG2 level in blood|Reduced IgG2 levels A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation. HP:0010656 Abnormal epiphyseal ossification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010656 UMLS:C4021246 Abnormal maturation of the end part of a bone|Abnormality of the mineralisation or ossification of the epiphyses An abnormality of the formation and mineralization of an epiphysis. HP:0010655 Epiphyseal stippling biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010655 SNOMEDCT_US:360507004|UMLS:C1859126 Stippled epiphyses|Stippling of the epiphyses|Speckled calcifications in end part of bone|Epiphyseal punctate calcifications The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses. HP:0011986 Ectopic ossification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011986 SNOMEDCT_US:128491006|MEDDRA:10065453|UMLS:C0029396|MSH:D009999 Ectopic bone formation|Heterotopic ossification Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist. HP:0008345 Hypoplasia of the iris dilator muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008345 UMLS:C4024696 Hypoplasia of the pupil dilator muscle|Underdeveloped pupil dilator muscle|Underdeveloped iris dilator muscle Underdevelopment of the dilatator pupillae. HP:0009676 Bracket epiphysis of the distal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009676 UMLS:C4024241 Bracket shaped end part of thumb outermost long bone 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. HP:0008344 Elevated plasma branched chain amino acids biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008344 UMLS:C4024697 An increased concentration of a branched chain amino acid in the blood. HP:0011987 Ectopic ossification in muscle tissue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011987 UMLS:C4023096 Calcification of muscle tissue Formation of abnormal bony tissue within muscle tissue. HP:0009675 Absent epiphysis of the distal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009675 UMLS:C4024242 Absent end part of thumb outermost long bone Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb. HP:0009678 Enlarged epiphysis of the distal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009678 UMLS:C4021408 Large terminal thumb phalanx epiphysis|Enlarged end part of thumb outermost long bone Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms. HP:0007015 Poor gross motor coordination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007015 UMLS:C1867863 Gross motor impairment An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts. HP:0008347 Decreased activity of mitochondrial complex IV biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008347 UMLS:C4020800 Respiratory complex IV deficiency A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria. HP:0011988 Ectopic ossification in tendon tissue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011988 UMLS:C4023095 Formation of abnormal bony tissue within tendon tissue. HP:0008346 Increased red cell sickling tendency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008346 UMLS:C4024695 Increased sickling of red cells|Increased sickling of erythrocytes HP:0009677 Cone-shaped epiphysis of the distal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009677 UMLS:C4021409 Cone-shaped end part of thumb outermost long bone|Cone-shaped terminal thumb phalanx epiphysis A cone-shaped appearance of the epiphysis of the distal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. HP:0007016 Corticospinal tract hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007016 UMLS:C1844007 HP:0011989 Ectopic ossification in ligament tissue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011989 UMLS:C4023094 Formation of abnormal bony tissue within ligament tissue. HP:0008341 Distal renal tubular acidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008341 MSH:D000141|UMLS:C1704380|SNOMEDCT_US:236461000|SNOMEDCT_US:86210009 Renal tubular acidosis, type I A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia. HP:0009672 Small epiphysis of the proximal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009672 UMLS:C4024245 Small end part of thumb innermost long bone Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. HP:0007010 Poor fine motor coordination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007010 UMLS:C1867864 Impaired fine motor skills|Fine motor skill dysfunction|Fine motor disability|Fine motor impairment An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes. HP:0009671 Pseudoepiphysis of the proximal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009671 UMLS:C4024246 A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the proximal phalanx of the thumb. HP:0007011 Fourth cranial nerve palsy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007011 SNOMEDCT_US:20610004|MSH:D020432|UMLS:C0271375 Trochlear nerve palsy Paralysis of the fourth cranial (trochlear) nerve manifested as weakness of the superior oblique muscle which causes vertical diplopia that is maximal when the affected eye is adducted and directed inferiorly. HP:0009674 Triangular epiphysis of the proximal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009674 UMLS:C4024243 Triangular end part of thumb innermost long bone A triangular appearance of the epiphysis of the proximal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. HP:0009673 Stippling of the epiphysis of the proximal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009673 UMLS:C4024244 Speckled calcifications in end part of thumb innermost long bone The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. HP:0200050 Bracket metacarpal epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200050 UMLS:C4021897 Bracket shaped end part of long bone of hand HP:0007074 Thick corpus callosum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007074 UMLS:C1835194 Large corpus callosum|Abnormal size of corpus callosum Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain. HP:0200055 Small hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200055 UMLS:C0575802|SNOMEDCT_US:299032009 Disproportionately small hands|Small hands|Small hand Disproportionately small hand. HP:0020049 Exodeviation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020049 Divergent strabismus A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally. HP:0200054 Foot monodactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200054 UMLS:C4021896 HP:0200053 Hemihypotrophy of lower limb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200053 UMLS:C1844734 Asymmetric lower limb shortness|Asymmetric leg shortening Shortening of a leg affecting only one side. HP:0200059 Metastatic angiosarcoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200059 UMLS:C0854892 HP:0200058 Angiosarcoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200058 MSH:D006394|SNOMEDCT_US:33176006|SNOMEDCT_US:403977003|UMLS:C0018923|SNOMEDCT_US:39000009 HP:0200057 Marcus Gunn pupil biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200057 UMLS:C0549122|SNOMEDCT_US:232122003|SNOMEDCT_US:247015002 Relative afferent pupil defect|Relative afferent pupillary defect An aberrant pupillary response characterized by (i) Constriction of pupils of both eyes when the light stimulus is applied to the normal eye, and (ii) Dilatation of pupils of both eyes when the light stimulus is rapidly transferred from the normal eye (after brief light exposure to the normal eye) to the affected eye. HP:0200056 Macular scar biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200056 UMLS:C0423428|SNOMEDCT_US:18410006 Macular scarring Scar tissue in the macula. HP:0020046 Accommodative esotropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020046 A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex. HP:0007068 Inferior vermis hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007068 UMLS:C1855350 Hypoplasia of inferior vermis Underdevelopment of the inferior portion of the vermis of cerebellum. HP:0020045 Esodeviation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020045 Convergent strabismus A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally. HP:0008399 Circumungual hyperkeratosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008399 UMLS:C4024681 Thick skin around nails A thickening of the stratum corneum, the outer layer of the skin, in the region surrounding the nails. HP:0007069 Profound static encephalopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007069 UMLS:C4024944 HP:0020048 Reduced bone-marrow pro-B cell count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020048 A reduction in the numbers of pro-B cells (defined by coexpression of CD34 and CD19). Earlier B-cell precursors are defined by expressing surface CD34 and cytoplasmic TdT in the absence of CD19. HP:0020047 Abnormal myeloid cell morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020047 Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage. HP:0007064 Progressive language deterioration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007064 UMLS:C1843793 Progressive loss of previously present language abilities. HP:0008396 Chronic monilial nail infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008396 UMLS:C4024683 Chronic infection of the nails by Candida species. HP:0020042 Double depressor palsy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020042 An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye. HP:0007065 Disorganization of the anterior cerebellar vermis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007065 UMLS:C1845369 Disorganisation of the anterior cerebellar vermis HP:0020041 Double elevator palsy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020041 A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia. HP:0008398 Hypoplastic fifth fingernail biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008398 UMLS:C4024682 Underdeveloped fingernail of pinky finger|Underdeveloped fifth fingernail|Underdeveloped fingernail of little finger|Underdeveloped fingernail of pinkie finger A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger. HP:0007066 Proximal limb muscle stiffness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007066 UMLS:C1861460 HP:0020044 Horizontal incomitant strabismus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020044 HP:0020043 Vertical incomitant strabismus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020043 A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts upwards and/or downwards. HP:0007067 Distal peripheral sensory neuropathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007067 UMLS:C4021582 Peripheral sensory neuropathy, distal Peripheral sensory neuropathy affecting primarily distal sensation. HP:0007082 Dilated third ventricle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007082 UMLS:C4024941 An increase in size of the third ventricle. HP:0007083 Hyperactive patellar reflex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007083 UMLS:C0240116 Brisk knee jerk|Overactive knee reflex|Hyperreflexia in knees HP:0200066 Ribbonlike corneal degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200066 UMLS:C4021894 HP:0020038 Vertebrobasilar dolichoectasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020038 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. HP:0200065 Chorioretinal degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200065 UMLS:C0521683|SNOMEDCT_US:247177004 HP:0200064 Asymmetry of iris pigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200064 SNOMEDCT_US:247033008|MSH:C538115|UMLS:C0423318 Asymmetry between the two irides or asymmetry between different parts of one iris. HP:0200063 Colorectal polyposis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200063 SNOMEDCT_US:399505005|UMLS:C0949059 Colorectal polyps Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen. HP:0007081 Late-onset muscular dystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007081 UMLS:C4024942 HP:0200068 Nonprogressive visual loss biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200068 UMLS:C3553696|UMLS:C4021893 Decreased visual acuity, nonprogressive HP:0200067 Recurrent spontaneous abortion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200067 UMLS:C3279439 Spontaneous abortion, recurrent Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference. HP:0020035 Lower limb dysmetria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020035 A lack of coordination of leg movement manifested by undershoot or overshoot of the intended position of the leg. HP:0020034 Diffuse biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020034 UMLS:C0205219|SNOMEDCT_US:19648000 A spatial pattern that is spread out, i.e., not localized. HP:0020037 Astasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020037 A postural abnormality characterized by the inability to stand without external support despite having sufficient muscle strength. HP:0020036 Upper limb dysmetria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020036 A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm. HP:0007076 Extrapyramidal muscular rigidity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007076 UMLS:C1852470 Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement). HP:0007078 Decreased amplitude of sensory action potentials biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007078 UMLS:C4024943 A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies. HP:0008383 Slow-growing nails biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008383 UMLS:C1835238 Slow-growing nails Nails whose growth is slower than normal. HP:0007052 Multifocal cerebral white matter abnormalities biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007052 UMLS:C1833434 HP:0200032 Kayser-Fleischer ring biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200032 SNOMEDCT_US:77103006|UMLS:C0152457 Fleischer-Struempell ring|Fleischer's ring|Fleischer-Kayser ring Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea. HP:0200030 Punctate vasculitis skin lesions biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200030 UMLS:C3277693 HP:0200037 Skin vesicle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200037 UMLS:C3814530 A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point. HP:0033301 Elevated circulating 1-methylhistidine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033301 An abnormally increased level of 1-methylhistidine in the blood circulation. 1-methylhistidine is a derivative of L-histidine. HP:0200036 Skin nodule biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200036 SNOMEDCT_US:95319004|UMLS:C0037287 Growth of abnormal tissue on or under the skin 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. HP:0033300 Increased circulating complement factor H related protein 1 concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033300 Elevated level of circulating complement factor H related protein 1 concentration in the blood circulation. HP:0033303 Elevated urinary monocarboxylic acid level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033303 Abnormally increased amount of a monocarboxylic acid in the urine. Monocarboxylic acids are molecules with one COOH functional group. HP:0200035 Skin plaque biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200035 SNOMEDCT_US:128177006|UMLS:C0241148|SNOMEDCT_US:276322001 A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter. HP:0200034 Papule biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0200034 SNOMEDCT_US:443871003|SNOMEDCT_US:25694009|UMLS:C0332563|MEDDRA:10033733 Papules|Skin papules A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point. HP:0033302 Elevated circulating 4-hydroxyphenylacetic acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033302 An abnormally increased concentration of 4-Hydroxyphenylacetic acid in the blood circulation. HP:0200039 Pustule biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0200039 SNOMEDCT_US:103605005|MEDDRA:10037578|UMLS:C0241157|SNOMEDCT_US:47002008|UMLS:C0542346|SNOMEDCT_US:271760008|SNOMEDCT_US:285305004 Pustules|Skin pustule|Skin pustules|Pimple|Pustula|Pustular lesion A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells. HP:0033309 Ileoileal intussusception biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033309 A type of intussusception of the small intestine in which one part of the ileum invaginates (telescopes) into another part of the ileum. HP:0033308 Patellar overgrowth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033308 Excessive growth of the kneecap (patella). HP:0033305 Abnormal circulating fetuin A concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033305 Any deviation from the normal concentration of fetuin A in the blood circulation. HP:0033304 Elevated urine 4-hydroxyphenylacetic acid level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033304 Increased amount of 4-hydroxyphenylacetic acid in the urine. HP:0033307 Increased circulating fetuin A concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033307 An elevation above normal of fetuin A in the blood circulation. HP:0033306 Decreased circulating fetuin A concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033306 A reduction below normal of fetuin A in the blood circulation. HP:0007047 Atrophy of the dentate nucleus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007047 UMLS:C1857788 Partial or complete wasting (loss) of dentate nucleus. HP:0007048 Large basal ganglia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007048 UMLS:C1859470 Increased size of the basal ganglia. HP:0007042 Focal white matter lesions biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007042 UMLS:C4024946 HP:0008373 Puberty and gonadal disorders biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008373 UMLS:C4024685 Puberty and gonadal disorders HP:0008376 Nasal, dysarthic speech biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008376 UMLS:C1834664 Breathy speech HP:0007045 Midline brain calcifications biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007045 UMLS:C1855487 HP:0200040 Epidermoid cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200040 SNOMEDCT_US:419893006|SNOMEDCT_US:419670003|UMLS:C0014511|SNOMEDCT_US:418323001|SNOMEDCT_US:419603000|SNOMEDCT_US:399999000|SNOMEDCT_US:417992006|SNOMEDCT_US:418630001|MSH:D004814 Infundibular cyst|Keratin cyst|Epidermoid cysts|Epidermal cyst|Epidermal inclusion cyst|Skin cyst|Sebaceous cyst Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts. HP:0008392 Subungual hyperkeratosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008392 SNOMEDCT_US:10165000|UMLS:C0038605 Thickened, discolored skin under nail A thickening of the stratum corneum in the region beneath the nails. HP:0010690 Mirror image hand polydactyly biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010690 UMLS:C4021239 Mirror image dupliction of fingers Mirror image duplication of digits affecting the hands only. HP:0008391 Dystrophic fingernails biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008391 UMLS:C3551426 Poor fingernail formation The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate. HP:0008394 Congenital onychodystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008394 UMLS:C1393669|UMLS:C4280413 Congenital malformed nails HP:0007063 Aplasia of the inferior half of the cerebellar vermis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007063 UMLS:C1857787 Absent inferior half of the cerebellar vermis HP:0008393 Congenital curved nail of fourth toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008393 UMLS:C4024684 HP:0200044 Porokeratosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200044 SNOMEDCT_US:80432009|MSH:D017499|UMLS:C0949506 A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella. HP:0200043 Verrucae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200043 UMLS:C3665596|SNOMEDCT_US:30285000|MSH:D014860|SNOMEDCT_US:57019003 Warts Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas. HP:0200042 Skin ulcer biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0200042 SNOMEDCT_US:46742003|UMLS:C0037299|MSH:D012883|MEDDRA:10040943 Open skin sore A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. HP:0008390 Recurrent loss of toenails and fingernails biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008390 UMLS:C4021542 Recurrent shedding of toenails and fingernails|Recurrent loss of toenails and fingernails Recurrent loss, or shedding, of the nails of the fingers and toes. HP:0200041 Skin erosion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200041 MEDDRA:10040840|UMLS:C3887524|SNOMEDCT_US:93448009 A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed. HP:0033312 Abnormal Bowman space morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033312 Structural anomaly located in Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron. HP:0200048 Cyanotic episode biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200048 UMLS:C0578475|SNOMEDCT_US:301795004 HP:0010698 Nuclear pulverulent cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010698 UMLS:C4021237 Central pulverulent cataract|cataracta pulverulenta centralis|Coppock-like cataract|Pulverulent nuclear cataract A type of nuclear cataract involving congenital dust-like (pulverulent) opacity of the embryonal and fetal nucleus. HP:0010697 Anterior pyramidal cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010697 UMLS:C1392099 Pyramidal cataract A type of anterior polar cataract which projects as a conical opacity into the anterior chamber. HP:0200047 Chondritis of pinna biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200047 UMLS:C0741305 Inflammation of cartilage of pinna Inflammation of the cartilage of the external ear. HP:0033311 Abdominal aortic dissection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033311 A tear in the intimal layer of the abdominal aorta causing a separation between the intima and the medial layers. HP:0200046 Cat cry biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200046 UMLS:C0234861|SNOMEDCT_US:42712003 Cat cry|cat-like cry|cri de chat-associated cry The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten. HP:0033314 Visceral epithelial cell hyperplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033314 Podocyte hyperplasia|Hyperplasia of visceral epithelial cells Increased number of visceral epithelial cells (2 or more layers), often with crowding and multilayering, but without continuity with the parietal epithelium. HP:0010696 Polar cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010696 UMLS:C2025392 A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens. HP:0033313 Urinary space collagenization biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033313 Collagenization of the urinary space Acellular collagenous matrix within Bowman's space, not associated with extracapillary hypercellularity or necrosis, associated with sclerosis or deflation of the tuft. HP:0010695 Sutural cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010695 UMLS:C4023734 A type of congenital cataract in which the opacity follows the anterior or posterior Y suture. HP:0010694 Lamellar pulverulent cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010694 UMLS:C4023735 A Lamellar cataract with a pulverulent (punctate, "dust-like" opacities) appearance. HP:0010693 Pulverulent cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010693 MSH:C563426|UMLS:C1833118 Pulverulent cataract A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally. HP:0010692 2-5 finger syndactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010692 UMLS:C4023736 Webbed index, middle and pinky finger|Webbed 2nd-5th fingers|Webbed index, middle and little finger|Webbed index, middle and pinkie finger Syndactyly with fusion of fingers two to five. HP:0033310 Osmotic diarrhea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033310 Osmotic diarrhea results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption. HP:0010691 Mirror image foot polydactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010691 UMLS:C4021238 Mirror image dupliction of toes Mirror image duplication of digits affecting the feet. HP:0200049 Upper limb hypertonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200049 UMLS:C4021898 HP:0033319 Fibrous crescent biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033319 A type of glomerular crescent characterized by extracapillary fibrosis composed of greater than 75% matrix and of less than 25% cells with or without fibrin, usually associated with disruption of Bowman's capsule and involving over 10% of the capsular circumference. HP:0033316 Glomerular crescent formation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033316 Glomerular crescent refers hyperplastic lesions involving 10% or more of the circumference of Bowman's capsule. Crescents can be composed of a variable mixture of epithelial/leukocyte hypercellularity, fibrous matrix, and fibrin. HP:0033315 Visceral epithelial hyaline droplets biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033315 Round to ovoid, Periodic acid-Schiff (PAS)-positive, fuchsinophilic cytoplasmic inclusions within visceral epithelial cells. HP:0033318 Fibrocellular crescent biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033318 A type of glomerular crescent characterized by extracapillary hypercellularity of more than 2 cell layers and involving over 10% of the capsular circumference, composed of 25% to 75% cells with or without fibrin, and the remainder fibrous matrix. HP:0033317 Cellular crescent biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033317 A type of glomerular crescent characterized by extracapillary hypercellularity of greater than two cell layers and involving more than 10% of the capsular circumference, composed of greater than 75% cells with or without fibrin, and less than 25% fibrous matrix. HP:0010699 Triangular nuclear cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010699 UMLS:C4023733 A nuclear cataract with a triangular form. HP:0007057 Poor hand-eye coordination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007057 UMLS:C1845864 HP:0008388 Abnormal toenail morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008388 SNOMEDCT_US:700189007|UMLS:C3839753 Abnormality of the toenails|Abnormality of the toenail An anomaly of the toenail. HP:0007058 Generalized cerebral atrophy/hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007058 UMLS:C4024945 Generalized cerebral degeneration/underdevelopment|Generalised cerebral atrophy/hypoplasia Generalized atrophy or hypoplasia of the cerebrum. HP:0007054 Hyperreflexia proximally biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007054 UMLS:C1836012 HP:0008386 Aplasia/Hypoplasia of the nails biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008386 UMLS:C1859077 Absent/underdeveloped nails|Absent/small nails|Nail aplasia/hypoplasia|Absent/hypoplastic nails Aplasia or developmental hypoplasia of the nail. HP:0011930 Hyperextensible skin of chest biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011930 UMLS:C4021836 Stretchable chest skin|Hyperelastic chest skin HP:0010607 Hordeolum externum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010607 SNOMEDCT_US:1489008|UMLS:C0019919 Hordeola externa are acute purulent infections affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll, often caused by staphylococcus infections. In contrast to chalazia, hordeola are extremely painfull and can cause extreme local swelling. HP:0011939 3-4 finger cutaneous syndactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011939 UMLS:C4023115 A soft tissue continuity in the A/P axis between fingers 3 and 4. HP:0010606 Hordeolum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010606 SNOMEDCT_US:1489008|MSH:D006726|UMLS:C4280376|SNOMEDCT_US:397513003|UMLS:C0019917 Stye of eyelid|Red bump on eyelid An acute purulent infection of the sebaceous glands of Zeis at the base of the eyelashes, of the apocrine sweat glands of Moll or the meibomian sebacious glands often caused by staphylococcus infections. Hordeola can either occur as Hordeola externa affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll or as Hordeola interna affecting the meibomian sebacious glands. In contrast to chalazia, hordeola are extremely painful and can cause extreme local swelling. HP:0009606 Complete duplication of distal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009606 UMLS:C4021427 Complete duplication of outermost bone of the thumb Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side. HP:0009609 Duplication of the 1st metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009609 UMLS:C4021426 Partial/complete duplication of the 1st metacarpal|Partial/complete duplication of the 1st long bone of hand Partail or complete duplication of the first metacarpal bone. HP:0010605 Chalazion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010605 SNOMEDCT_US:1482004|MSH:D017043|UMLS:C0007933 Meibomian gland lipogranuloma A chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland. A chalazion or meibomian cyst appears as a painless tuberous swelling in the upper lid without loss of eyelashes. HP:0010604 Cyst of the eyelid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010604 SNOMEDCT_US:301913002|SNOMEDCT_US:248514008|UMLS:C0155218|SNOMEDCT_US:46210008|UMLS:C0424844|UMLS:C0578590 Eyelid mass|Lesion of the eyelid|Eyelid bump|Cyst of the eyelid HP:0009608 Complete duplication of proximal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009608 UMLS:C4024273 Complete duplication of the innermost bone 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. HP:0009603 Deviation of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009603 UMLS:C3552414 Abnormal thumb placement|Deviated thumb|Displacement of the thumb Displacement of the thumb from its normal position. HP:0010603 Odontogenic keratocysts of the jaw biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010603 UMLS:C1708604 Keratocysts of the jaw|Keratocystic odontogenic tumor A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour. HP:0009602 Abnormality of thumb phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009602 UMLS:C4021428 Abnormality of thumb phalanges|Abnormality of the thumb bones A structural anomaly of one or more phalanges of the thumb. HP:0010602 Type 2 muscle fiber predominance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010602 UMLS:C3277187 Type 2 muscle fibre predominance|Type II muscle fiber predominance An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy). HP:0010601 Abnormality of the proximal ulnar epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010601 UMLS:C4023772 Any abnormality of the proximal epiphysis of the ulna. HP:0010600 Abnormality of the distal ulnar epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010600 UMLS:C4023773 Any abnormality of the distal epiphysis of the ulna. HP:0011931 Abnormality of the cerebellar peduncle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011931 UMLS:C4023121 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. HP:0011932 Abnormality of the superior cerebellar peduncle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011932 UMLS:C4023120 An anomaly of the superior cerebellar peduncle. HP:0011933 Elongated superior cerebellar peduncle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011933 UMLS:C4021109|UMLS:C3810214 Elongated superior cerebellar peduncles|Long cerebellar peduncles|Long cerebellar peduncle Increased length of the superior cerebellar peduncle. HP:0009601 Aplasia/Hypoplasia of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009601 MSH:C536903|UMLS:C3179508 Thumb aplasia/hypoplasia|Aplasia/hypoplasia of thumbs|Absent/hypoplastic thumb|Absent/hypoplastic thumbs|Absent or hypoplastic thumbs|Hypoplastic/absent thumb|Absent/underdeveloped thumb|Aplastic/hypoplastic thumbs|Hypoplastic to aplastic thumbs|Absent/small thumb Hypoplastic/small or absent thumb. HP:0009600 Flexion contracture of thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009600 UMLS:C0409346|SNOMEDCT_US:239736003 Flexion deformities of thumbs|Contracture of thumb|Joint contractures of the 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. HP:0011934 Dilatation of mesenteric artery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011934 UMLS:C4023119 Mesenteric artery aneurysm Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery . HP:0011935 Decreased urinary urate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011935 UMLS:C4023118 Decreased concentration of urate in the urine. HP:0011936 Decreased plasma total carnitine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011936 UMLS:C4023117 Decreased plasma total carnitine A decreased concentration of total carnitine in the blood. HP:0010609 Skin tags biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010609 SNOMEDCT_US:201091002|SNOMEDCT_US:80801001|SNOMEDCT_US:31069005|UMLS:C0037293 Acrochorda Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumours that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region. HP:0011937 Hypoplastic fifth toenail biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011937 UMLS:C4023116 Underdeveloped fifth toenail|Small fifth toenail Underdeveloped nails of the fifth toes. HP:0010608 Hordeolum internum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010608 UMLS:C4280375|SNOMEDCT_US:414521009|UMLS:C0085690 Red bump on inner eyelid|Stye of inner eyelid Hordeola interna are acute purulent infections affecting the meibomian sebacious glands, often caused by staphylococcus infections. In contrast to chalazia (chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland), hordeola are extremely painfull and can cause extreme local swelling. HP:0011928 Short proximal phalanx of toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011928 UMLS:C4023123 Short innermost toe bone Developmental hypoplasia (shortening) of proximal phalanx of toe. HP:0009618 Abnormality of the proximal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009618 UMLS:C4021421 Abnormality of proximal thumb phalanx|Abnormal innermost thumb bone An anomaly of the shape or form of the proximal phalanx of the thumb. HP:0009617 Abnormality of the distal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009617 UMLS:C4021422 Abnormality of terminal thumb phalanx|Abnormality of the outermost bone of the thumb Any anomaly of the distal phalanx of thumb. HP:0011929 Hypersegmentation of proximal phalanx of third finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011929 UMLS:C4023122 Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger. HP:0009614 Bifid proximal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009614 UMLS:C4024272 Notched thumb bone 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. HP:0009613 Duplication of the proximal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009613 UMLS:C4021424 Partial/complete duplication of the proximal phalanx of the thumb|Notched innermost bone of 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. HP:0009616 Bifid first metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009616 UMLS:C4021423 Notched first long bone of hand|partial duplication of the first metacarpal Partial duplication of the first metacarpal bone. HP:0009615 Complete duplication of the first metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009615 UMLS:C4024271 Complete duplication of the first long bone of hand Complete duplication of the first metacarpal bone. HP:0011920 Transudative pleural effusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011920 SNOMEDCT_US:79231000|UMLS:C0020312|MSH:D006876 A type of pleural effusion with a transudate (extravascular fluid with low protein content and a low specific gravity). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH. HP:0011921 Exudative pleural effusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011921 UMLS:C3887491|SNOMEDCT_US:13841000119107 A type of pleural effusion with a exudate (extravascular fluid that has exuded out of a tissue or its capillaries due to injury or inflammation). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH. HP:0009612 Duplication of the distal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009612 UMLS:C4021425 Double thumb distal phalanges|Duplication of distal thumb phalanx|Duplicated terminal phalanx of thumb|Duplication of terminal thumb phalanx|Partial/complete duplication of the distal phalanx of the thumb|Duplication of the outermost bone 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. HP:0011922 Abnormal activity of mitochondrial respiratory chain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011922 UMLS:C4023126 An increased or decreased activity of the mitochondrial respiratory chain. HP:0009611 Bifid distal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009611 UMLS:C1860162 Notched outermost bone of thumb|Incipient distal thumb phalanx duplication|Bifid distal phalanx of thumb|Bifid thumb distal phalanx|Bifid terminal phalanges of thumbs|Notched outermost bone of the thumb|Notched terminal thumb phalanx Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. HP:0011923 Decreased activity of mitochondrial complex I biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011923 UMLS:C2677650|UMLS:C4020739 Respiratory complex I deficiency A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria. HP:0011924 Decreased activity of mitochondrial complex III biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011924 UMLS:C4020738|UMLS:C3149083 Respiratory complex III deficiency A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria. HP:0011925 Decreased activity of mitochondrial ATP synthase complex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011925 UMLS:C4020737|UMLS:C4023125 Respiratory complex deficiency, ATPase deficiency A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain. HP:0011926 Proximal placement of hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011926 UMLS:C4021110 Proximal placement of big toe|Proximally placed halluces Proximal mislocalization of the big toe from its normal position. HP:0011927 Short digit biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011927 UMLS:C1860176|UMLS:C4023124 Very short digits|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. HP:0011917 Short 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011917 UMLS:C4021111 Short pinky toe|Short pinkie toe|Short little toe|Short fifth toe Underdevelopment (hypoplasia) of the fifth toe. HP:0011918 Clinodactyly of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011918 UMLS:C4020740 4th toe clinodactyly|Curvature of 4th toe Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe). HP:0011919 Pleural empyema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011919 SNOMEDCT_US:58554001|SNOMEDCT_US:405951008|SNOMEDCT_US:405950009|MSH:D016724|UMLS:C0014013 Pyothorax Accumulation of pus in the pleural cavity. HP:0011910 Shortening of all phalanges of fingers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011910 UMLS:C4023133 Shortening of all finger bones Abnormal reduction in length affecting all phalanges. HP:0011911 Abnormality of metacarpophalangeal joint biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011911 UMLS:C4023132 Abnormality of the knuckle An anomaly of a metacarpophalangeal joint. HP:0011912 Abnormality of the glenoid fossa biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011912 UMLS:C4023131 An anomaly of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus. HP:0011913 Lumbar hypertrichosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011913 UMLS:C4023130 Excessive, increased hair growth located in the lumbar region. HP:0011914 Thoracic hypertrichosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011914 UMLS:C4023129 Excessive, increased hair growth located in the thoracic region. HP:0011915 Cardiovascular calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011915 UMLS:C4023128 Abnormal calcification in the cardiovascular system. HP:0011916 Toe extensor amyotrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011916 UMLS:C4023127 Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes. HP:0011906 Reduced beta/alpha synthesis ratio biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011906 UMLS:C4023137 A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia. HP:0011907 Reduced alpha/beta synthesis ratio biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011907 UMLS:C4023136 A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia. HP:0011908 Unilateral radial aplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011908 UMLS:C4023135 Missing radius bone on one side only associated with congenital failure of development. HP:0011909 Flattened metacarpal heads biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011909 UMLS:C4023134 Flattened head of long bone of hand Abnormally flat shape of the heads of the metacarpal bones. HP:0011900 Hypofibrinogenemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011900 SNOMEDCT_US:234457009|UMLS:C0553681 Low fibrinogen level|Low fibrinogen activity Decreased concentration of fibrinogen in the blood. HP:0011901 Dysfibrinogenemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011901 SNOMEDCT_US:111589005|UMLS:C1260903 Dysfibrinogenaemia Qualitatively abnormal fibrinogen. HP:0011902 Abnormal hemoglobin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011902 UMLS:C0349705 Abnormal Hb|Abnormal haemoglobin Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes. HP:0011903 HbH hemoglobin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011903 UMLS:C3161174|SNOMEDCT_US:48553001 HbH haemoglobin|Hemoglobin H Hemoglobin H (HbH) contains four beta-globin chains. It is normally not present at all in blood, but may make up about 1-40 percent of all hemoglobin in HbH disease, a subform of alpha thalassemia. HP:0011904 Persistence of hemoglobin F biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011904 UMLS:C0239941 Persistence of HbF|Persistence of haemoglobin F|Increased hemoglobin F Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent. HP:0011905 Reduced hemoglobin A biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011905 UMLS:C4023138 Reduced haemoglobin A|Reduced HbA Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia. HP:0011970 Cerebral amyloid angiopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011970 MSH:D016657|UMLS:C0085220|SNOMEDCT_US:230724001 Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system. HP:0011971 Dermatographic urticaria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011971 SNOMEDCT_US:402410006|UMLS:C0343065|SNOMEDCT_US:7632005|SNOMEDCT_US:402601007 Dermatographism|Dermographism An exaggerated whealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor). HP:0011972 Hypoglycorrhachia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011972 UMLS:C0598121 Low glucose levels in cerebral spinal fluid|Decreased CSF glucose Abnormally low glucose concentration in the cerebrospinal fluid. HP:0011973 Paroxysmal lethargy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011973 UMLS:C1847507 Repeated episodes of sudden-onset and transient lethargy. HP:0011974 Myelofibrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011974 UMLS:C0026987|SNOMEDCT_US:52967002 Replacement of bone marrow by fibrous tissue. HP:0010643 Midnasal atresia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010643 UMLS:C4023762 Absence or abnormal closure of the midnasal cavity. HP:0010641 Abnormality of the midnasal cavity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010641 UMLS:C4021861 Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae. HP:0010640 Abnormality of the nasal cavity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010640 UMLS:C4023763 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). HP:0010649 Flat nasal alae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010649 UMLS:C4023759 Depressed nasal alae|Flat nasal alar cartilage An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae). HP:0010648 Dermal translucency biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010648 UMLS:C1836646 Translucent skin An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility. HP:0010647 Abnormal elasticity of skin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010647 UMLS:C4023760 Any abnormal increase or reduction in skin elasticity. HP:0008316 Abnormal mitochondria in muscle tissue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008316 UMLS:C4021546 Abnormal mitochondria in muscle An abnormality of the mitochondria in muscle tissue. HP:0010646 Cervical spine instability biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010646 UMLS:C0410652|SNOMEDCT_US:202821008 An abnormal lack of stability of the cervical spine. HP:0009646 Patchy sclerosis of the distal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009646 UMLS:C4024258 Uneven increase in bone density in the outermost bone of the thumb An uneven increase in bone density of the distal phalanx of the thumb. HP:0008315 Decreased plasma free carnitine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008315 UMLS:C4015009 A decreased concentration of free (unbound) carnitine in the blood. HP:0010645 Aplasia of the distal phalanges of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010645 UMLS:C4023761 Absent outermost bone of the toes Absence of the distal phalanges of the toes. HP:0009649 Aplasia of the distal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009649 UMLS:C4021416 Absent ossification/absent terminal thumb phalanx|Aplasia of the outermost bone of the thumb|Absence of the outermost bone of the thumb Absence of the distal/terminal phalanx of the thumb. HP:0008318 Elevated leukocyte alkaline phosphatase biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008318 UMLS:C4024704 Elevated leukocyte ALP Increased alkaline phosphatase measured within leukocytes. HP:0010644 Midnasal stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010644 UMLS:C1840238 Midnasal atresia or stenosis Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress. HP:0009648 Triangular shaped distal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009648 UMLS:C4024257 Triangular shaped outermost bone of the thumb Triangular shaped distal phalanx of the thumb. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. HP:0009643 Bullet-shaped distal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009643 UMLS:C4024260 Bullet-shaped outermost bone 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. HP:0011975 Aminoglycoside-induced hearing loss biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011975 UMLS:C4023100 Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics. HP:0009642 Broad distal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009642 UMLS:C1863402 Broad outermost bone of the thumb|Broad terminal thumb phalanx|Wide outermost bone of thumb|Wide distal phalanx of thumb Increased width of the distal phalanx of thumb. HP:0011976 Elevated urinary catecholamines biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011976 UMLS:C0241577 Elevated urinary catecholamines An increased concentration of catecholamine in the urine. HP:0008311 Spinal cord posterior columns myelin loss biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008311 UMLS:C4024706 HP:0011977 Elevated urinary homovanillic acid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011977 UMLS:C4020736 Increased urinary homovanillic acid An increased concentration of homovanillic acid in the urine. HP:0009645 Osteolytic defect of the distal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009645 UMLS:C4021417 Osteolytic defects of the distal phalanx of the thumb|Osteolytic defects of the outermost bone of the thumb Dissolution or degeneration of bone tissue of the distal phalanx of the thumb. HP:0008314 Decreased activity of mitochondrial complex II biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008314 UMLS:C4020801|UMLS:C4024705 Respiratory complex II deficiency A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria. HP:0009644 Curved distal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009644 UMLS:C4024259 Curved outermost bone of the thumb A deviation from the normal straight shape of the distal phalanx of the thumb. HP:0011978 Elevated urinary vanillylmandelic acid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011978 UMLS:C4020735 Increased urinary vanillylmandelic acid An increased concentration of vanillylmandelic acid in the urine. HP:0011979 Elevated urinary dopamine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011979 UMLS:C4023099 Elevated urinary dopamine An increased concentration of dopamine in the urine. HP:0009641 Aplasia/Hypoplasia of the distal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009641 UMLS:C4024261 Absent/small outermost thumb bone|Absent/underdeveloped outermost thumb bone HP:0009640 Synostosis of the proximal phalanx of the thumb with the 1st metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009640 UMLS:C4024262 Fusion of the innermost bone of the thumb with the 1st long bone of hand Fusion of the proximal phalanx of the thumb with the 1st metacarpal. HP:0011960 Substantia nigra gliosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011960 UMLS:C1846865 Focal proliferation of glial cells in the substantia nigra. HP:0011961 Non-obstructive azoospermia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011961 UMLS:C4021107 Testicular azoospermia Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. HP:0011962 Obstructive azoospermia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011962 UMLS:C4023106 Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. HP:0011963 Pretesticular azoospermia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011963 UMLS:C4023105 Absence of any measurable level of sperm in his semen, due to a hypothalamic or pituitary abnormality diagnosed with hypo-gonadotropic-hypogonadism. The diagnosis is made on the basis of low LH and FSH levels and low or normal testosterone levels. HP:0010632 Total anosmia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010632 UMLS:C4023768 Inability to detect any qualitative olfactory sensation. HP:0010631 Abnormality of the epiphyses of the feet biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010631 UMLS:C4023769 Abnormality of the end part of the foot bone Any abnormality of the epiphyses of the feet. HP:0010630 Abnormality of metatarsal epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010630 UMLS:C4021248 Abnormality of the epiphyses of the metatarsals|Abnormality of end part of long bone of foot Any abnormality of a metatarsal bone epiphysis. HP:0010639 Elevated alkaline phosphatase of bone origin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010639 UMLS:C1833667 Increased serum bone-specific alkaline phosphatase|Elevated alkaline phosphatase of bone origin|Elevated ALP of bone origin An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. HP:0010638 Elevated alkaline phosphatase of hepatic origin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010638 UMLS:C4023764 Elevated ALP of hepatic origin An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. HP:0010637 Conjunctival amyloidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010637 SNOMEDCT_US:59017008|UMLS:C0268402 A form of amyloidosis that affects the conjunctiva. HP:0008327 Microscopic nephrocalcinosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008327 UMLS:C0403474|SNOMEDCT_US:236444003 The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma. HP:0009658 Aplasia/Hypoplasia of the phalanges of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009658 UMLS:C4024256 Absent/underdeveloped thumb bones|Absent/small thumb bones HP:0010636 Schizencephaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010636 MSH:D065707|SNOMEDCT_US:38353004|SNOMEDCT_US:253159001|UMLS:C0266484 The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area. HP:0009657 Triangular shaped thumb phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009657 UMLS:C4021412 Triangular shaped phalanges of the thumb|Triangular shaped thumb bone|Triangular thumb phalanges Abnormal shape of one or more phalanges of the thumb such that affected phalanges resemble a triangle. HP:0008326 Reduced circulating vitamin B6 level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008326 MSH:D026681|UMLS:C0936215|SNOMEDCT_US:386080007 Vitamin B6 deficiency|Reduced vitamin b6 levels An abnormally decreased concentration of vitamin B6 in the blood circulation. HP:0010635 Partial hyposmia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010635 UMLS:C4023765 Reduced ability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants). HP:0010634 Total hyposmia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010634 UMLS:C4023766 Reduced ability to detect any qualitative olfactory sensation. HP:0009659 Partial absence of thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009659 UMLS:C4020780|UMLS:C4024255 Partial absence of thumb|Aplasia of the phalanges of the thumb The absence of a phalangeal segment of a thumb. HP:0010633 Partial anosmia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010633 UMLS:C4023767 Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants). HP:0011964 Intermittent painful muscle spasms biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011964 UMLS:C4023104 History of repeated intermittent involuntary muscle contractions that were painful. HP:0008323 Abnormal light- and dark-adapted electroretinogram biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008323 UMLS:C3151111 Abnormal rod and cone electroretinogram An abnormality of the combined rod-and-cone response on electroretinogram. HP:0009654 Osteolytic defect of thumb phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009654 UMLS:C4020905 Osteolytic defects of the phalanges of the thumb Dissolution or degeneration of bone tissue of one or more phalanges of the thumb. HP:0011965 Abnormal circulating citrulline concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011965 UMLS:C4023103 Any deviation from the normal concentration of citrulline in the blood circulation. HP:0008322 Abnormal mitochondrial morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008322 UMLS:C4014650 Abnormal mitochondrion morphology Any structural anomaly of the mitochondria. HP:0009653 Curved thumb phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009653 UMLS:C4021414 Curved thumb bone|Curved phalanges of the thumb A deviation from the normal straight shape of a thumb phalanx. HP:0011966 Elevated plasma citrulline biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011966 UMLS:C4023102 An increased concentration of citrulline in the blood. HP:0009656 Symphalangism of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009656 UMLS:C1834032 Fused thumb bones|Fused thumb phalanges|Symphalangism of the distal and proximal phalanges of the thumb Congenital fusion (ankylosis) of the interphalangeal joint of the thumb. HP:0009655 Patchy sclerosis of thumb phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009655 UMLS:C4021413 Uneven increase in bone density in thumb bone|Patchy sclerosis of the phalanges of the thumb An uneven increase in bone density of one or more of the phalanges of the thumb. HP:0011967 Decreased circulating copper concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011967 SNOMEDCT_US:19577007|UMLS:C0268070 Copper deficiency|Hypocupremia|Reduced serum copper A reduced concentration of copper in the blood. HP:0011968 Feeding difficulties biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011968 SNOMEDCT_US:78164000|UMLS:C0232466 Poor feeding|Feeding difficulties|Feeding problems Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. HP:0009650 Short distal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009650 UMLS:C1862313 Hypoplastic terminal thumb phalanx|Short thumb terminal phalanx|Short terminal thumb phalanx|Short outermost bone of the thumb|Hypoplastic/small distal phalanx of the thumb|Small terminal thumb phalanx Hypoplastic (short) distal phalanx of the thumb. HP:0011969 Elevated circulating luteinizing hormone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011969 UMLS:C4023101 Increased circulating luteinizing hormone level|Elevated LH level|Elevated luteinizing hormone An elevated concentration of luteinizing hormone in the blood. HP:0008321 Reduced factor X activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008321 MSH:D005171|UMLS:C0015519|SNOMEDCT_US:76642003|UMLS:C4024702 Decreased factor x activity|Factor X deficiency Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa). HP:0009652 Bullet-shaped thumb phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009652 UMLS:C4021415 Bullet-shaped phalanges of the thumb|Bullet-shaped thumb bone An abnormal morphology of one or more phalanges of the thumb, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. HP:0008320 Impaired collagen-induced platelet aggregation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008320 UMLS:C4024703 Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics. HP:0011950 Bronchiolitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011950 UMLS:C0006271|SNOMEDCT_US:4120002|MSH:D001988 Inflammation of the bronchioles. HP:0011951 Aspiration pneumonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011951 SNOMEDCT_US:422588002|UMLS:C0032290|MSH:D011015 Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract. HP:0011952 Acute aspiration pneumonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011952 SNOMEDCT_US:35031000119100|UMLS:C4023111 An acute episode of pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract. HP:0010621 Cutaneous syndactyly of toes biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010621 UMLS:C1834737 Cutaneous syndactyly of feet|Webbed skin of toes|soft tissue syndactyly of toes A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria. HP:0010620 Malar prominence biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010620 UMLS:C4280374|UMLS:C1858732 Prominent malar region|Malar excess|Hyperplasia of malar bones|Malar hyperplasia Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face. HP:0010629 Abnormal morphology of the cortex of the humerus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010629 UMLS:C4023770 Any abnormality affecting the cortex of the humerus. HP:0009629 Aplasia/Hypoplasia of the proximal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009629 UMLS:C4024268 Absent/small innermost thumb bone|Absent/underdeveloped innermost thumb bone This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. HP:0010628 Facial palsy biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010628 MSH:D005158|UMLS:C0427055|MSH:D020330|UMLS:C0376175|UMLS:C1858719|SNOMEDCT_US:95666008|SNOMEDCT_US:193093009 Facial muscle weakness of muscles innervated by CN VII|Seventh cranial nerve palsy|Facial nerve palsy|Facial palsy, unilateral or bilateral|Bell's palsy|Facial nerve paralysis|VII th cranial nerve palsy|Cranial nerve VII 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. HP:0010627 Anterior pituitary hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010627 UMLS:C1859775|UMLS:C0948740 Underdeveloped pituitary gland|Hypoplasia of the pituitary gland Underdevelopment of the anterior pituitary gland. HP:0010626 Anterior pituitary agenesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010626 UMLS:C4021249 Absent pituitary gland|Aplasia of the pituitary gland Absence of the anterior pituitary gland resulting from a developmental defect. HP:0009625 Contractures of the metacarpophalangeal joint of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009625 UMLS:C2108151 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. HP:0010625 Anterior pituitary dysgenesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010625 MSH:D010903|UMLS:C0032008|UMLS:C4023771|SNOMEDCT_US:62818001 Adenohypophysis Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis. HP:0009624 Contractures of the carpometacarpal joint of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009624 UMLS:C4024269 Chronic loss of joint motion of the carpometacarpal joint of the thumb due to structural changes in non-bony tissue. This joint is formed by the first metacarpal and the trapezial bone and is also called Articulatio carpometacarpalis pollicis, carpometacarpal articulation of thumb, carpometacarpal joint of thumb or first carpometacarpal articulation. Seldom referred to as thumb saddle joint. HP:0010624 Aplastic/hypoplastic toenail biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010624 UMLS:C1856749 Aplastic/hypoplastic toenails|Absent/underdeveloped toenails|Hypoplastic-absent toenails|Absent/small toenails Absence or underdevelopment of the toenail. HP:0010622 Neoplasm of the skeletal system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010622 NCIT:C3262|UMLS:C4020771|SNOMEDCT_US:442868003|UMLS:C2732838 Neoplasia of the skeletal system|Bone neoplasm|Skeletal tumor A tumor (abnormal growth of tissue) of the skeleton. HP:0009626 Contractures of the interphalangeal joint of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009626 UMLS:C2108146 Interphalangeal extension contractures of thumbs 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. HP:0011953 Pulmonary lymphoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011953 UMLS:C0519063 Lung parenchymal involvement with lymphoma. HP:0009621 obsolete Ulnar deviation of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009621 HP:0011954 Nodular regenerative hyperplasia of liver biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011954 SNOMEDCT_US:715140008|UMLS:C1318485|SNOMEDCT_US:65860006 Partial nodular transformation of liver|Noncirrhotic nodulation|Nodular transformation of liver Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis. HP:0009620 obsolete Radial deviation of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009620 HP:0009623 Proximal placement of thumb biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009623 UMLS:C1865572 Low implantation of the thumb|Low-set thumb|Proximally placed thumbs|Attachment of thumb close to wrist Proximal mislocalization of the thumb. HP:0011955 Hepatic granulomatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011955 UMLS:C4023110 The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes. HP:0011956 Intestinal lymphoid nodular hyperplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011956 UMLS:C4023109 A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine. HP:0009622 Distally placed thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009622 UMLS:C4024270 Insertion of thumb at a more distal location than normal. HP:0011957 Abnormal pectoral muscle morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011957 UMLS:C4023108 Abnormal pec muscles 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. HP:0011958 Retinal perforation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011958 SNOMEDCT_US:302888003|SNOMEDCT_US:40024006|SNOMEDCT_US:95690009|SNOMEDCT_US:232003005|MSH:D012167|UMLS:C0035321 Retinal tear|Torn retina A small hole through the whole thickness of the retina. HP:0011959 Unilateral hypoplasia of pectoralis major muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011959 UMLS:C4023107 Small pec muscle on one side|Underdeveloped pec muscle on one side Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest. HP:0011940 Anterior wedging of T12 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011940 UMLS:C4021108 Anterior wedging of the 12th thoracic vertebra|Wedge-shaped 12th thoracic vertebra An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front). HP:0011941 Anterior wedging of L2 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011941 UMLS:C4023114 An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front). HP:0010610 Palmar pits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010610 UMLS:C0423776|SNOMEDCT_US:247449001 HP:0010618 Ovarian fibroma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010618 MSH:C562391|NCIT:C3041|UMLS:C0149951|SNOMEDCT_US:254865006 The presence of a fibroma of the ovary. HP:0008309 Medium chain dicarboxylic aciduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008309 UMLS:C1860081 An increase in the level of medium chain dicarboxylic acid in the urine. HP:0010617 Cardiac fibroma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010617 NCIT:C3041|UMLS:C1096654 A fibroma of the heart. HP:0010616 Lung fibroma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010616 NCIT:C3041|SNOMEDCT_US:707387004|UMLS:C1334444 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. HP:0010615 Angiofibromas biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010615 MSH:D018322|SNOMEDCT_US:302857002|SNOMEDCT_US:60392001|UMLS:C0206731|NCIT:C3799 Angiofibroma consist of many often dilated vessels. HP:0008305 Exercise-induced myoglobinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008305 UMLS:C1860069|UMLS:C1845155 Exercise-induced myoglobinuria in adults Presence of myoglobin in the urine following exercise. HP:0010614 Fibroma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010614 NCIT:C3041|SNOMEDCT_US:424568000|MSH:D005350|SNOMEDCT_US:112682009|UMLS:C0016045 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. HP:0009636 Triangular shaped proximal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009636 UMLS:C4021419 Triangular proximal thumb phalanx|Triangular innermost thumb bone Triangular shaped proximal phalanx of the thumb. HP:0009635 Synostosis of thumb phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009635 UMLS:C4024263 Fusion of thumb bone Fusion of a phalanx of the thumb with another bone. HP:0009638 Short proximal phalanx of thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009638 UMLS:C1855091 Short proximal thumb bone|Hypoplastic/small proximal phalanx of the thumb|Short proximal thumb phalanx|Short proximal phalanges 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. HP:0010612 Plantar pits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010612 UMLS:C1852301 The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot. HP:0009637 Absent proximal phalanx of thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009637 UMLS:C4021418 Aplasia of the proximal phalanx of the thumb|Absent ossification/absent proximal thumb phalanx|Absent innermost thumb bone Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. HP:0008306 Abnormal iron deposition in mitochondria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008306 UMLS:C3151556 HP:0008301 Dermatan sulfate excretion in urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008301 UMLS:C1854774 Dermatan sulphate excretion in urine An increased concentration of dermatan sulfate in the urine. HP:0009632 Curved proximal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009632 UMLS:C4024265 Curved innermost thumb bone A deviation from the normal straight shape of the proximal phalanx of the thumb. HP:0011942 Increased urinary sulfite biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011942 UMLS:C1848957 Increased concentration of SO3(2-), i.e., sulfite, in the urine. HP:0009631 Bullet-shaped proximal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009631 UMLS:C4024266 Bullet-shaped innermost thumb bone Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the thumb is affected. HP:0011943 Increased urinary thiosulfate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011943 UMLS:C3148695 Increased concentration of thiosulfate(2-) in the urine. HP:0008303 Olivary degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008303 UMLS:C4024707 Degeneration of the olivary bodies, prominent oval structures in the medulla oblongata. HP:0011944 Small vessel vasculitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011944 UMLS:C4023113 A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries. HP:0009634 Patchy sclerosis of the proximal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009634 UMLS:C4024264 Uneven increase in bone density in the innermost thumb bone An uneven increase in bone density of the proximal phalanx of the thumb. HP:0009633 Osteolytic defect of the proximal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009633 UMLS:C4021420 Osteolytic defects of the proximal phalanx of the thumb Dissolution or degeneration of bone tissue of the proximal phalanx of the thumb. HP:0011945 Bronchiolitis obliterans organizing pneumonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011945 MSH:D018549|SNOMEDCT_US:129458007|UMLS:C0242770 BOOP|Bronchiolitis obliterans organising pneumonia|Cryptogenic organizing pneumonia Bronchiolitis obliterans organizing pneumonia (BOOP) is and interstitial lung abnormalitiy characterized histopathologically by plugs of granulation tissue lying within small airways, alveolar ducts, and alveoli and by chronic inflammatory cell infiltration in alveolar walls. Patients with BOOP generally present with subacute illness, including shortness of breath, fever, malaise, and weight loss. HP:0011946 Bronchiolitis obliterans biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011946 UMLS:C0006272|SNOMEDCT_US:40100001|UMLS:C2350875|MSH:D001989 Constrictive bronchiolitis|Obliterative bronchiolitis Inflammation and fibrosis of the bronchioles leading to partial or complete obstruction of these airways. HP:0011947 Respiratory tract infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011947 UMLS:C0035243|MSH:D012141|SNOMEDCT_US:275498002 Respiratory infections|Respiratory tract infection|Respiratory infection An infection of the upper or lower respiratory tract. HP:0009630 Broad proximal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009630 UMLS:C4024267 Broad innermost thumb bone 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. HP:0011948 Recurrent acute respiratory tract infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011948 UMLS:C1442786 Acute respiratory tract infection A history of repeated acute infections of the upper or lower respiratory tract. HP:0010619 Fibroadenoma of the breast biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010619 UMLS:C0178421|NCIT:C3744|SNOMEDCT_US:254845004 Breast fibroadenosis|Fibroadenosis - breast|Breast fibroadenoma|Breast fibroadenomas|Fibroadenosis of breast A benign biphasic tumor of the breast with epithelial and stromal components. HP:0011949 Acute infectious pneumonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011949 UMLS:C4023112 Acute inflammation of the lung due to an infection. HP:0033282 Abnormal glomerular basement membrane morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033282 Any abnormal sttructure of the glomerular basement membrane. HP:0033281 Circulating nucleated red blood cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033281 The presence of nucleated red blood cells in the peripheral blood circulation. HP:0033284 Diffusely thickened glomerular basement membrane biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033284 Prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals. HP:0033283 Segmentally thickened glomerular basement membrane biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033283 Prominent glomerular basement membrane (GBM) reflecting a segmental and increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals. HP:0200011 Abnormal length of corpus callosum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200011 UMLS:C4021903 HP:0033280 Paratracheal lymphadenopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033280 Enlargement of lymph nodes surrounding the trachea. HP:0200015 Symmetric great toe depigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200015 UMLS:C4021900 HP:0033289 Glomerular basement membrane wrinkling biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033289 Irregular folding of the glomerular basement membrane with an intact lamina densa. HP:0200013 Neoplasm of fatty tissue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200013 NCIT:C3262|UMLS:C4021901 Tumor of fatty tissue A tumor (abnormal growth of tissue) of adipose tissue. HP:0200012 Short corpus callosum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200012 UMLS:C4021902 HP:0033286 Thickened glomerular basement membranes with electron dense deposits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033286 HP:0200018 Protanomaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200018 MSH:D003117|SNOMEDCT_US:51445007|UMLS:C0155015|UMLS:C3887980 Red-weak|Colorblindness, partial, protan series 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. HP:0033285 Thickened glomerular basement membranes with no electron dense deposits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033285 Prominent glomerular basement membrane (GBM) reflecting an increase in thickness (subjective estimate) with no evidence of electron dense deposits by electron microscopy. HP:0033288 Glomerular basement membrane spikes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033288 HP:0200017 Cerebral white matter agenesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200017 UMLS:C1859969 Agenesis of the cerebral white matter|White matter agenesis Congenital defect with failure of the development of the cerebral white matter. HP:0200016 Acrokeratosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200016 UMLS:C0001202|SNOMEDCT_US:46629009 Acral keratosis Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet. HP:0033287 Glomerular basement membrane lucencies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033287 Lucent zones within the glomerular basement membranes. May reflect remote/resolved deposits. HP:0033293 Glomerular hyaline pseudothrombus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033293 Intracapillary amorphous, eosinophilic material consisting of immune deposits. HP:0033292 Glomerular fibrin thrombus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033292 An aggregate of coagulated blood containing fibrin, with or without entrapped cellular elements, within a glomerular capillary lumen. HP:0033295 Mesangial Immune complex deposition biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033295 Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit. HP:0033294 Glomerular lipoprotein thrombus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033294 Intracapillary silver-positive material that is finely vacuolated and laminated, and stains with oil red O on frozen sections. HP:0200022 Choroid plexus papilloma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200022 NCIT:C3698|SNOMEDCT_US:18021007|UMLS:C0205770|MSH:D020288 Choroid plexus papilloma is a histologically benign neoplasm located in the ventricular system of the choroid plexus. HP:0200021 Down-sloping shoulders biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0200021 UMLS:C1856872 Rounded, sloping shoulders|Rounded shoulders|Down-sloping shoulders|Sloping shoulders Low set, steeply sloping shoulders. HP:0200020 Corneal erosion biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0200020 UMLS:C0392163|SNOMEDCT_US:50792001 Damage to outer layer of the cornea of the eye An erosion or abrasion of the cornea's outermost layer of epithelial cells. HP:0033291 Glomerular karyhorrhectic debris biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033291 Apoptotic, pyknotic, and fragmented nuclei within the glomerulus. HP:0033290 Glomerular subendothelial widening biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033290 Expansion of the space between the glomerular endothelium and lamina densa by electron-lucent material. HP:0200026 Ocular pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200026 MSH:D058447|UMLS:C0151827|SNOMEDCT_US:41652007 Eye pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye. HP:0200025 Mandibular pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200025 UMLS:C0236000|SNOMEDCT_US:274667000 Lower jaw pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible. HP:0200024 Premature chromatid separation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200024 UMLS:C4021899 The presence of premature sister chromatid segregation. HP:0200023 Priapism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200023 UMLS:C0033117|MSH:D011317|SNOMEDCT_US:6273006 hulseyism A painful and harmful medical condition in which the erect penis doesn't return to its flaccid state, despite the absence of both physical and psychological stimulation, within four hours. HP:0033297 Multinucleated visceral epithelial cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033297 Multinucleated podocytes|Podocyte multinucleation Visceral epithelial cells with more than two nuclei. Can be observed on light or ultrastructral microscopy. HP:0200029 Vasculitis in the skin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200029 SNOMEDCT_US:53312001|UMLS:C0262988 Cutaneous vasculitis HP:0033296 Binucleated visceral epithelial cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033296 Binucleated podocytes Visceral epithelial cells with 2 nuclei. Can be observed on light or ultrastructral microscopy. HP:0033299 Reduced circulating complement factor H related protein 1 concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033299 Decreased level of circulating complement factor H related protein 1 concentration in the blood circulation. HP:0200028 Pretibial myxedema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200028 SNOMEDCT_US:237825005|UMLS:C0033103|UMLS:C0342554|SNOMEDCT_US:78146007 Graves dermopathy A diffuse, non-pitting edema and thickening of the skin usually on the anterior aspect of the lower legs spreading to the dorsum of the feet. HP:0033298 Abnormal circulating complement factor H related protein 1 concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033298 A deviation from the normal concentration in blood of factor H-related protein 1 (FHR-1) HP:0008297 Transient hyperphenylalaninemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008297 SNOMEDCT_US:28575006|UMLS:C0268464 A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine). HP:0200000 Dysharmonic bone age biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200000 UMLS:C4020918 Dysharmonic skeletal maturation Different levels of maturation of different bones. HP:0200003 Splayed epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200003 UMLS:C4021906 Splayed end part of bone Flaring (widening) of the epiphysis. HP:0200001 Dysharmonic accelerated bone age biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200001 UMLS:C4021907 A type of dysharmonic skeletal maturation in which there is an acceleration in skeletal maturation whose degree differs markedly in different bones. HP:0200008 Intestinal polyposis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200008 UMLS:C0744333|MSH:D044483|UMLS:C1257915 Growths in inner lining of intestine|Gastrointestinal polyps|Multiple intestinal polyps The presence of multiple polyps in the intestine. HP:0200007 Abnormal size of the palpebral fissures biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200007 UMLS:C4280286|UMLS:C4021904 Abnormal size of the eyes|Abnormal size of the opening between the eyelids An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures. HP:0200006 Slanting of the palpebral fissure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0200006 UMLS:C2748932 Slanting of the opening between the eyelids HP:0200005 Abnormal shape of the palpebral fissure biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0200005 UMLS:C4021905 Abnormal morphology of the palpebral fissure|Abnormal shape of the opening between the eyelids The presence of an abnormal shape of the palpebral fissure. HP:0033240 Elevated RV/TLC ratio biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033240 An increase in the ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and (3) body plethysmography. An elevated RV/TLC can be interpreted as a sign of air trapping and hyperinflation. HP:0033246 Type II pneumocyte hypertrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033246 Hypertrophic alveolar type II cells|Hypertrophic alveolar type II pneumocytes Increase in size of type II pneumocytes. HP:0033245 Abnormal alveolar type II pneumocyte morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033245 Abnormal alveolar epithelial type II cell morphology|Abnormal pulmonary type II cell morphology|Abnormal type II pneumocyte morphology Any structural abnormality of alveolar type 2 (ATII) cells. HP:0033248 Multiple pulmonary interstitial hyalinized nodules biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033248 Fibrosing nodules, consisting of either unilateral or bilateral central whorled deposits of lamellar collagen hyalin. HP:0033247 Pulmonary amyloidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033247 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. HP:0033242 Horseshoe lung biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033242 A horseshoe lung is an uncommon congenital abnormality caused by the partial fusion of the bases of both lungs behind the pericardial sac. HP:0033241 Polyalveolar lobe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033241 An elevation of the total count of alveoli as determined by microscopic point-counting of randomly taken lung sections, not secondary to abnormalities in number, size and structure of the airways. In polyaveolar lobe, the number of alveoli is generally increased three to fivefold. HP:0033244 Glycogen accumulation in pulmonary interstitial cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033244 Accumulation of immature interstitial cells containing abundant cytoplasmic glycogen defined by periodic acid-Schiff (PAS) positive cells. HP:0033243 Pulmonary necrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033243 Cellular death affecting one or more parts of the lung. Necrosis is caused by diverse external and internal factors which result in the unregulated digestion of cell components. HP:0033249 Focal substantia nigra T2 hyperintensity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033249 Focal substantia nigra T2 hyperintense lesion Hyperintense lesion in the substantia nigra on magnetic resonance T2 imaging. HP:0033251 Elevated residual volume biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033251 Elevated RV Increase in the amount of air remaining in a person's lungs after ful exhalation. HP:0033250 Nailfold capillary tortuosity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033250 An increased number of turns of the blood vessels of the nailfold with a charactereistic winded or twisted appearance of the blood vessels. HP:0033257 Delayed ability to walk with support biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033257 Delayed ability to cruise A failure to achieve the ability to walk with support (cruise) at an appropriate developmental stage. HP:0033256 Pancolitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033256 Inflammation of the entire colon. HP:0033259 Non-motor seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033259 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. HP:0033258 Sudden unexpected death in epilepsy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033258 SUDEP Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected, witnessed or unwitnessed, non-traumatic and non-drowning death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus, in which postmortem examination has not revealed a cause of death. HP:0033253 Reduced circulating interferon gamma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033253 A reduction in the concentration of interferon gamma measured in the blood circulation. HP:0033252 Palmar hyperlinearity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033252 Exaggerated skin markings (dermatoglyphics) on the palms of the hand. HP:0033255 Congenital lobar overinflation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033255 Congenital lobar emphysema A congenital malformation characterized by an overdistended segment of lung, affecting an party of a lobe or the entire one. It results in progressive overinflation of one or more lobes. HP:0033254 Anorectal stricture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033254 Stricture of the anorectum Narrowing of the anorectum associated with inflammation or scar tissue. HP:0033260 Livedo racemosa biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033260 Livedo racemosa describes a reddish-blue mottling of the skin in an irregular, reticular pattern. It differs from the more common livedo reticularis by its shape. Livedo racemosa consists of broken circular segments resulting in a seemingly larger pattern, as opposed to the fine, regular, complete network of livedo reticularis. Livedo racemosa results from permanent impairment of peripheral blood flow and, unlike livedo reticularis, it persists on warming. HP:0033262 Transphyseal fracture of the distal humerus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033262 Transphyseal distal humerus fracture A fracture through the distal humeral physis that separates the entire distal humeral epiphysis from the metaphysis. HP:0033261 Renal artery aneurysm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033261 Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment. HP:0033268 Deflation of the glomerular tuft biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033268 Wrinkling and folding of the capillaries without epithelial cell (podocyte) hyperplasia (formerly called ischemic type of collapse) involving o 80% of the glomerular tuft. The wrinkling is generally made by small regular folds of the glomerular basement membrane. HP:0033267 Abnormal glomerular capillary lumen morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033267 Abnormal structural characteristics of the interior space of the capillary of the renal glomerulus. HP:0033269 Glomerular capillary collapse biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033269 Collapse of glomerular capillary walls Collapse is generally accompanied by other descriptors such as hypertrophy and hyperplasia of overlying glomerular epithelial cells, halo, protein droplets in podocytes and glomerular parietal epithelial cells (PECs). HP:0033264 Enlarged platelet dense granules biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033264 Increased size of platelet dense granules. HP:0033263 Absent platelet dense granules biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033263 Absent platelet dense bodies Lack of platelet dense granules, a type of platelet organelles. HP:0033266 Glomerular pseudocrescent biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033266 Visceral epithelial cell hyperplasia with resulting cellular crowding of the the urinary space. In contrast with true crescents, these proliferations lack inflammatory cells and fibrin. The cells are typically plump (not spindle-shaped) and often vacuolated, and Bowman's capsule is usually intact. HP:0033265 Podocyte myelin figures biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033265 Podocyte myelin inclusions Lamellated intracytoplasmic lipid inclusions within podocytes. HP:0033271 Glomerular capillary microaneurysm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033271 Glomerular capillary dilatation due to loosening/detachment of the glomerular basement membrane (GBM) from its anchoring points, usually in the context of mesangiolysis or nodular glomerulosclerosis. HP:0033270 Glomerular capillary congestion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033270 Glomerular congestion Global distention of glomerular capillaries with intraluminal intact red blood cells. HP:0033273 Loss of glomerular endothelial cell fenestration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033273 Loss of round to oval discontinuities normally present in the glomerular capillary endothelial cell cytoplasm. HP:0033272 Abnormal glomerular endothelial cell morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033272 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. HP:0033279 Enterocutaneous fistula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033279 An abnormal connection (fistula) between the intra-abdominal intestinal tract and the skin. HP:0033278 Reduced CD95-induced lymphocyte apoptosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033278 Reduced amount of programmed cell death in peripheral blood lymphocytes following exposure to CD95 (APO-1/Fas), which is a member of the death receptor family, a subfamily of the TNF-R superfamily. Crosslinking of CD95 with its natural ligand CD95L (CD178) or with agonistic antibodies such as anti-APO-1 induces apoptosis in sensitive cells. HP:0033275 Glomerular endothelial tubuloreticular inclusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033275 Inter-anastomosing tubular structures located within cisternae of endoplasmic reticulum, most often within endothelial cells and associated with exposure to interferon. HP:0033274 Glomerular endotheliosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033274 Enlargement of glomerular endothelial cells by cytoplasmic swelling with resulting partial or complete occlusion of the lumen. HP:0033277 Glomerular fibrinoid necrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033277 Fibrin associated with glomerular basement membrane disruption and/or lysis of the mesangial matrix; this lesion does not require the presence of karyorrhexis. HP:0033276 obsolete Glomerular endocapillary hypercellularity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033276 HP:0008480 Cervical spondylosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008480 SNOMEDCT_US:387801000|UMLS:C1384641|MSH:D055009|SNOMEDCT_US:387800004|UMLS:C0263854 Neck arthritis|Cervical oestoarthritis The presence of arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column. HP:0008482 Asymmetry of spinal facet joints biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008482 UMLS:C4024669 HP:0020127 Periarticular soft-tissue mass biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020127 A lump detected in the region that surrounds a joiny. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction. HP:0020126 Prostate mass biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020126 A lump detected in the prostate. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction. HP:0020129 Abnormal urine protein level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020129 Any deviation of the concentration of one or more proteins in the urine. HP:0020128 Aplasia of the olfactory tract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020128 Aplasia (congenital absence) of the olfactory tract, which causes anosmia, a complete loss of the sense of smell. HP:0033444 Elevated circulating dodecanoylcarnitine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033444 Elevated plasma dodecanoylcarnitine, C12:0|Elevated circulating O-dodecanoylcarnitine concentration Increased concentration of dodecanoylcarnitine in the blood circulation. HP:0032112 Abnormal Pelli Robson contrast sensitivity chart test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032112 An abnormality in perception of contrast as measured by the Pelli-Robson contrast sensitivity chart, which is a large wall-mounted chart, with letters of a fixed size (comprising spatial frequencies appropriate for estimating peak contrast sensitivity) that decrease in contrast. HP:0033443 Elevated circulating propionylcarnitine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033443 Increased concentration of propionylcarnitine in the blood circulation. HP:0032113 Semidominant mode of inheritance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032113 A mode of inheritance that is observed for traits related to a gene encoded on chromosomes in which a trait can manifest in the heterozygotes and homozygotes, with differing phenotype severity present dependent on the number of alleles affected. HP:0032114 Saccadic intrusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032114 An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by a delayed corrective saccade. HP:0033446 Elevated circulating butyrylcarnitine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033446 Elevated circulating O-butyrylcarnitine concentration Increased concentration of O-butyrylcarnitine in the blood circulation. HP:0033445 Reduced circulating acylcarnitine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033445 An abnormally reduced concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine. HP:0033440 Elevated circulating octenoylcarnitine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033440 Elevated circulating O-octenoylcarnitine concentration|Elevated plasma octenoylcarnitine, C8:1 Increased concentration of octenoylcarnitine in the blood circulation. HP:0033442 Elevated circulating glutarylcarnitine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033442 Elevated circulating O-glutarylcarnitine concentration|Elevated plasma glutarylcarnitine, C5-DC Increased concentration of glutarylcarnitine in the blood circulation. HP:0032110 Severely reduced contrast sensitivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032110 A severe reduction in the ability to perceive visual contrast characterized by 1.00 log unit or more contrast sensitivity loss. HP:0033441 Elevated circulating hexanoylcarnitine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033441 Elevated circulating O-hexanoylcarnitine concentration|Elevated plasma hexanoylcarnitine, C6:0 Increased concentration of hexanoylcarnitine in the blood circulation. HP:0032111 Abnormal Vistech contrast sensitivity test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032111 An abnormality in perception of contrast as measured by the Vistech wall chart sine wave grating test. HP:0007149 Distal upper limb amyotrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007149 UMLS:C4021581 Distal upper limb muscle atrophy Muscular atrophy of distal arm muscles. HP:0032116 Macrosquare-wave jerks biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032116 Horizontal 10-40 degree excursions from fixation and back again. HP:0033448 Increased mid-arm muscle circumference biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033448 Elevation of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children. HP:0032117 obsolete Macrosaccadic oscillation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032117 HP:0033447 Elevated circulating isovalerylcarnitine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033447 Elevated circulating O-isovalerylcarnitine concentration Increased concentration of O-isovalerylcarnitine in the blood circulation. HP:0032118 Retinitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032118 Inflammation of the retina of the eye. HP:0033449 Decreased mid-arm muscle circumference biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033449 Reduction of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children. HP:0032119 Narrow angle glaucoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032119 A type of glaucomatous optic neuropathy occuring in the presence of a narrow anterior chamber angle. HP:0020123 Tympanosclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020123 Tympanic calcification A stiffening of the tympanic membrane due to calcification, typically presents as white plaque-like lesions, involving discrete regions of the tympanic membrane and/or middle ear. HP:0008477 Poorly ossified cervical vertebrae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008477 UMLS:C4024670 Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set. HP:0008476 Irregular sclerotic endplates biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008476 UMLS:C1868554 irregular, dense end plate HP:0020122 Bite cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020122 Degmacytes|Blister cells Red blood cells that appear to have parts of them bitten away. HP:0007146 Bilateral basal ganglia lesions biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007146 UMLS:C4024932 HP:0020125 Spontaneous conjunctival filtering bleb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020125 Spontaneous filtering bleb|Conjunctival avascular cysts (filtering blebs) Avascular cystic elevations of the superior conjunctiva not related to ocular surgery or trauma. HP:0008479 Hypoplastic vertebral bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008479 UMLS:C1863353 Small vertebral bodies|Underdeveloped back bones|Small vertebrae HP:0008478 Scheuermann-like vertebral changes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008478 UMLS:C1844926 HP:0007141 Sensorimotor neuropathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007141 UMLS:C1112256 Sensorimotor peripheral neuropathy|Mixed polyneuropathy|Nerve damage causing decreased feeling and movement HP:0008473 Narrow anterio-posterior vertebral body diameter biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008473 UMLS:C4021540 Reduced sagittal diameter of vertebrae|Reduced anterior-posterior diameter of vertebral bodies An abnormal reduction of the anterioposterior diameter of the vertebral body. HP:0008472 Prominent protruding coccyx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008472 UMLS:C1850044|UMLS:C4280412 Prominent protruding tailbone|Large tailbone HP:0008475 Hypoplastic sacral vertebrae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008475 UMLS:C2751479 HP:0020121 Conception by assisted reproductive technology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020121 A history of conception by an assisted reproductive technology such as in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), and cryopreservation. HP:0020120 Retinal nerve fiber edema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020120 Retinal nerve fibre oedema Swelling (edema) of the retinal nerve fibers. HP:0008491 Premature anterior fontanel closure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008491 UMLS:C4024668 Early closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life. HP:0008490 Sacral segmentation defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008490 UMLS:C1850329 HP:0020119 Abnormal retinal nerve fiber layer morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020119 Abnormal retinal nerve fibre layer morphology A structural abnormality of the retinal nerve fiber layer HP:0007162 Diffuse demyelination of the cerebral white matter biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007162 UMLS:C4024930 A diffuse loss of myelin from nerve fibers in the central nervous system. HP:0020118 Radial artery aplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020118 Congenital absence of the radial artery. HP:0020117 Hypoplastic dermoepidermal hemidesmosomes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020117 Underdeveloped hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin. HP:0033455 Elevated urinary dicarboxylic acid level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033455 Increased amount of a dicarboxylic acid in the urine. HP:0010797 Hemangioblastoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010797 SNOMEDCT_US:81201000|UMLS:C0206734|MSH:D018325|NCIT:C3801 Haemangioblastoma 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. HP:0032123 Ultra-low vision biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032123 Best corrected visual acuity worse than 1.90 logMAR (roughly 20/1590). HP:0032124 Abnormal proportion of unswitched memory B cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032124 Abnormal proportion of non-class-switched memory B cells A deviation of the normal proportion of unswitched memory B cells in circulation relative to the total number of B cells. HP:0010796 Brainstem glioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010796 UMLS:C0677865|SNOMEDCT_US:444545003 A glioma affecting the brainstem. HP:0033454 Tube feeding biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033454 Feeding problem necessitating food and nutrient delivery via a tube. HP:0033457 Elevated urine 3-methyl-2-oxovaleric acid level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033457 Increased amount of 3-methyl-2-oxovaleric acid in the urine. HP:0010795 Cerebellar glioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010795 UMLS:C4023700 A glioma affecting the cerebellum. HP:0032125 Increased proportion of unswitched memory B cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032125 Elevated proportion of unswitched memory B cells|Increased proportion of non-class-switched memory B cells An increase above the normal proportion of non-class-switched memory B cells relative to the total number of B cells. HP:0033456 Elevated urine keto acid level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033456 Increased amount of a keta acid in the urine. HP:0032126 Decreased proportion of unswitched memory B cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032126 Reduced proportion of unswitched memory B cells|Decreased proportion of non-class-switched memory B cells A reduction below the normal proportion of non-class-switched memory B cells relative to the total number of B cells. HP:0010794 Impaired visuospatial constructive cognition biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010794 UMLS:C4023701 Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities). HP:0010793 Bifid nail biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010793 SNOMEDCT_US:110992006|UMLS:C0544857 duplicated nail|Notched nail A digit with two nails, with at least some soft tissue between them. HP:0033451 Increased circulating prealbumin concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033451 An elevation above the normal concentration of prealbumin in the blood circulation. HP:0033450 Abnormal circulating prealbumin concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033450 Any deviation from normal concentration of albumin in the blood circulation. HP:0032120 Abnormal peripheral nervous system physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032120 Any functional abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord. HP:0010791 Hyperplasia of the Leydig cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010791 UMLS:C0023600|SNOMEDCT_US:76085008 Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone. HP:0032121 Froment sign biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032121 Froment thumb sign An abnormal result of a physical examination of the the hand that tests for palsy of the ulnar nerve. This nerve innervates the adductor pollicis and interossei muscles and thereby enables adduction of the thumb and extension of the interphalangeal joint. An abnormal result consists in reduced functionality and muscular weakness in the pinch grip between the thumb and index finger of the affected hand as the patient attempts to pinch a piece of paper that the examiner tries to pull away. The flexor pollicis longus muscle tries to compensate for the weakness by flexing the tip of the thumb at the interphalangeal joint. HP:0033453 Limited neck extension biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033453 Reduced abilty to move the head back towards the ceiling so that one is looking upwards. HP:0010790 Hyoplasia of the Leydig cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010790 UMLS:C4023702 Underdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone. HP:0033452 Decreased circulating prealbumin concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033452 A reduction from the normal concentration of prealbumin in the blood circulation. HP:0032122 Very low visual acuity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032122 A reduction in visual acuity with best corrected visual acuity between 1.40 (20/500) and 1.89 logMAR (up to roughly 20/1590). HP:0033459 Decreased circulating apolipoprotein concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033459 Decreased apolipoprotein level Reduced concentration in the blood circulation of a lipid-transport protein (apoliprotein). HP:0032127 Abnormal plasmablast proportion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032127 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. HP:0032128 Increased proportion of plasmablasts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032128 An elevation above the normal proportion of plasmablasts in circulation relative to total number of B cells. HP:0033458 Elevated urine 4-methyl-2-oxopentanoic acid level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033458 Increased urine alpha-ketoisocaproic acid level Increased amount of 4-methyl-2-oxopentanoic acid in the urine. HP:0010799 Pinealoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010799 MSH:D010871|NCIT:C3328|SNOMEDCT_US:359619007|SNOMEDCT_US:47598005|SNOMEDCT_US:127026004|UMLS:C0031941 A neoplasm of the pineal gland. HP:0032129 Decreased proportion of plasmablasts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032129 A reduction below the normal proportion of plasmablasts in circulation relative to total number of B cells. HP:0010798 Lip freckle biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010798 UMLS:C0406814|SNOMEDCT_US:239136007 Lip freckle|Ephelis of lip|Labial lentigo|Lip lentigo Increased focal pigmentation of the vermilion of the lips. HP:0020112 Increased proportion of CD4+CD25+ regulatory T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020112 Elevated proportion of CD4+CD25+ regulatory T cells|Increased proportion of CD4+CD25+ Treg cells An abnormally increased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells. HP:0008488 Anterior rounding of vertebral bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008488 UMLS:C1850043 HP:0007156 Asymmetric limb muscle stiffness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007156 UMLS:C4024931 Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in an asymmetric pattern. HP:0020111 Abnormal CD4+CD25+ regulatory T cell proportion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020111 Abnormal CD4+CD25+ Treg cell proportion A deviation from the normal proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells. HP:0007158 Progressive extrapyramidal muscular rigidity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007158 UMLS:C4021580 Progressive extrapyramidal rigidity A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement). HP:0020114 Persistent human papillomavirus infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020114 Human papillomaviruses (HPVs) are small oncogenic viruses. HPV has been shown to cause a variety of lesions and malignancies, which predominantly affect the anogenital region. Low-risk, non-oncogenic HPV types are associated with anogenital warts and recurrent respiratory papillomatosis while high-risk, oncogenic types are associated with cervical, penile, anal, vaginal, vulvar, and oropharyngeal cancers. Infection with anogenital HPV is usually asymptomatic and resolves spontaneously without consequences in the immunocompetent host. When disease does occur, the most common manifestation is genital warts, which may be small papules, or flat, smooth or pedunculated lesions. This resolution of HPV lesions is not generally seen in the immunosuppressed, resulting in severe, persistent and extensive manifestations of HPV disease. HP:0008489 Spondylolisthesis at L5-S1 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008489 UMLS:C3275799 Spondylolysis and spondylolisthesis of l5 Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the fifth lumbar vertebral body (L5) onto the sacrum (level S1). HP:0020113 Decreased proportion of CD4+CD25+ regulatory T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020113 Reduced proportion of CD4+CD25+ regulatory T cells|Decreased proportion of CD4+CD25+ Treg cells An abnormally decreased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells. HP:0007159 Fluctuations in consciousness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007159 UMLS:C1851959 HP:0008484 Thoracolumbar interpediculate narrowness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008484 UMLS:C1864364 Narrow thoracolumbar interpediculate distance A reduction of the distance between thoracolumbar vertebral pedicles. HP:0007153 Progressive extrapyramidal movement disorder biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007153 UMLS:C2748610 HP:0008483 Cervical vertebral bodies with decreased anteroposterior diameter biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008483 UMLS:C1847393 HP:0020110 Bone fracture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020110 A partial or complete breakage of the continuity of a bone. HP:0008486 Lumbar interpedicular narrowing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008486 UMLS:C1849079 Decreasing lumbar vertebrae interpediculate distance Narrowing (becoming gradually narrower) of the distance between lumbar vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. HP:0020108 Unusual parasitic infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020108 An unusual parasitic infection that is regarded as a sign of a pathological susceptibility to infection by a parasite. HP:0033460 Increased circulating apolipoprotein circulation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033460 Elevated concentration in the blood circulation of a lipid-transport protein (apoliprotein). HP:0009791 Bifid sacrum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009791 UMLS:C4024204 Presence of a bifid sacral bone. HP:0008460 Hypoplastic spinal processes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008460 UMLS:C4024674 Underdeveloped spinal processes HP:0009790 Hemisacrum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009790 UMLS:C2677632 A hemisacral defect involving the sacral vertebrae S2 to S5. In hemisacrum, the first sacral vertebra is intact and there is agenesis involving only S2-S5. HP:0020105 Severe toxoplasmosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020105 Toxoplasmosis is a widespread parasitic infection that is frequently asymptomatic in immunocompetent patients. However, this obligate intracellular protozoan parasite can evade the immune system and persist for the life of its host in cyst form, predominantly in the brain, retina, and muscles. Reactivation of latent cysts may occur when the immune system fails to maintain cytokine pressure, which mainly relies on gamma interferon (IFN-gamma). Toxoplasmosis is a life-threatening infection in immunocompromised patients (ICPs). HP:0020104 Unusual protozoan infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020104 An unusual protozoan infection that is regarded as a sign of a pathological susceptibility to infection by a protozoal agent. HP:0020107 Unusual helminthic infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020107 An unusual helminthic infection that is regarded as a sign of a pathological susceptibility to infection by a worm (helminth). HP:0020106 Severe giardiasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020106 An unusually severe infection due to Giardia lamblia, also called Giardia duodenalis or Giardia intestinalis, which is a protozoan parasite of the small intestine that causes extensive morbidity worldwide. HP:0010786 Urinary tract neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010786 NCIT:C3262|MSH:D014571|SNOMEDCT_US:126879004|SNOMEDCT_US:254913005|UMLS:C0042076 Urinary tract neoplasia The presence of a neoplasm of the urinary system. HP:0032134 Chronic decreased circulating total IgG biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032134 Chronic decreased total IgG in blood A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood. HP:0033466 Weak grip biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033466 Reduced grip strength. Gripping is the motion by which the hand tightly grasps an object or other hand. HP:0033465 Elevated circulating tetradecanolycarnitine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033465 Elevated circulating tetradecanoyl concentration. HP:0010785 Gonadal neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010785 UMLS:C4021228|NCIT:C3262 Gonadal neoplasia A tumor (abnormal growth of tissue) of a gonad. HP:0032135 Decreased circulating IgG subclass level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032135 Decreased IgG subclass level in blood A reduction below the normal concentration of a subclass of immunoglobulin G (IgG) in the blood. HP:0010784 Uterine neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010784 MSH:D014594|SNOMEDCT_US:126908007|UMLS:C0042138|NCIT:C3262 Uterine cancer|Uterine neoplasia|Uterine tumor A tumor (abnormal growth of tissue) of the uterus. HP:0032136 Decreased circulating IgG1 level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032136 Decreased IgG1 level in blood A reduction in immunoglobulin levels of the IgG1 subclass in the blood circulation. HP:0033468 10-minute APGAR score of 0 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033468 HP:0010783 Erythema biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010783 SNOMEDCT_US:70819003|MSH:D005483|SNOMEDCT_US:444827008|SNOMEDCT_US:238810007|SNOMEDCT_US:247441003|UMLS:C0016382|SNOMEDCT_US:20255002|UMLS:C0041834|MSH:D004890|SNOMEDCT_US:271811009|SNOMEDCT_US:86735004 Redness of skin or mucous membrane Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. HP:0032137 Decreased circulating IgG3 level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032137 Decreased IgG3 level in blood A reduction in immunoglobulin levels of the IgG3 subclass in the blood circulation. HP:0033467 Low 10-minute APGAR score biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033467 A normal APGAR score can be coded as 'not Low 10-minute APGAR score'. HP:0033462 Elevated circulating oleylcarnitine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033462 Elevated plasma oleylcarnitine, C18:1 Increased concentration of oleylcarnitine in the blood circulation. HP:0032130 Mycobacterium abscessus abscessus infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032130 Mycobacterium abscessus complex comprises a group of rapidly growing, multidrug-resistant, nontuberculous mycobacteria that are responsible for a wide spectrum of skin and soft tissue diseases, central nervous system infections, bacteremia, and ocular and other infections. HP:0010782 Shoulder dimple biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010782 UMLS:C4023704 Acromial dimple|Bi-acromial dimples|Shoulder dimples A subtype of skin dimples occurring in the shoulder region. HP:0033461 Elevated circulating 3-hydroxylinoleylcarnitine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033461 Elevated plasma 3-OH-Linoleylcarnitine, C18:1-OH Increased concentration of 3-hydroxylinoleylcarnitine in the blood circulation. HP:0010781 Skin dimple biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010781 UMLS:C0578531|SNOMEDCT_US:301854006 Skin dimples Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation. HP:0032131 Cervical dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032131 Cervical dysplasia is the precursor to cervical cancer. It is caused by the persistent infection of the human papillomavirus (HPV) into the cervical tissue. Affected cells develop morphologic features with immature basaloid- type squamous cells and mitotic figures in the upper half of the cervical epithelium. HP:0010780 Hyperacusis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010780 SNOMEDCT_US:25289003|SNOMEDCT_US:194399009|MSH:D012001|UMLS:C0034880 Loudness intolerance Over-sensitivity to certain frequency ranges of sound. HP:0033464 Elevated circulating 3-hydroxypalmitoleylcarnitine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033464 Elevated plasma 3-OH-Palmitoleylcarnitine, C16:1-OH|Elevated circulating 3-OH-palmitoleylcarnitine concentration|Increased concentration of 3-hydroxypalmitoleylcarnitine in the blood circulation. HP:0032132 Decreased circulating total IgG biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032132 A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood. HP:0033463 obsolete Elevated circulating palmitoleylcarnitine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033463 HP:0032133 Transient decreased circulating total IgG biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032133 A temporary reduction beneath the normal level of total immunoglobulin G (IgG) in the blood. HP:0032138 Decreased circulating IgG4 level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032138 Decreased IgG4 level in blood A reduction in immunoglobulin levels of the IgG4 subclass in the blood circulation. HP:0008459 Cervical vertebral agenesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008459 MSH:C562952|SNOMEDCT_US:91880006|UMLS:C0432160 Cervical vertebrae agenesis|Missing cervical vertebrae Agenesis of one or more vertebrae of the cervical vertebral column. HP:0009789 Perianal abscess biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009789 SNOMEDCT_US:82127005|UMLS:C0031019 The presence of an abscess located around the anus. HP:0033469 10-minute APGAR score of 1 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033469 HP:0010789 Abnormality of the Leydig cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010789 UMLS:C4023703 HP:0008458 Progressive congenital scoliosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008458 UMLS:C1857025 A progressive form of scoliosis with congenital onset. HP:0032139 Reduced isohemagglutinin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032139 Partial absence of isohemagglutinins|Decreased natural antibody to blood group agents Level of isohemagglutinin reduced below expected concentration. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person). HP:0010788 Testicular neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010788 NCIT:C3262|MSH:D013736|UMLS:C0039590|SNOMEDCT_US:126900000 Testicular neoplasia|Testicular tumor|Testicular cancer The presence of a neoplasm of the testis. HP:0007129 Cerebellar medulloblastoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007129 UMLS:C4024934 HP:0010787 Genital neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010787 NCIT:C3262|UMLS:C4020767|UMLS:C0679347 Genital neoplasia|Genital tumor A tumor (abnormal growth of tissue) of the genital system. HP:0009786 Aplasia/Hypoplasia of the musculature of the thigh biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009786 UMLS:C4024207 Absent/underdeveloped thigh muscles|Absent/small thigh muscles Absence or underdevelopment involving the musculature of the thigh. HP:0008455 Dysplastic sacrum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008455 UMLS:C1851305 Absence of some of the sacral and coccygeal bones|Partial sacral agenesis|Sacral dysgenesis A developmental defect of the sacrum characterized by partial or disordered development of the sacrum in which portions of the sacrum, which normally is formed by fusion of five sacral vertebrae S1-S5, fail to form or fail to form normally. HP:0007123 Subcortical dementia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007123 UMLS:C4024935 A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change. HP:0020101 Invasive fungal infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020101 Fungal infection characterized by invasion of host tissues. HP:0009785 Triceps aplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009785 UMLS:C3810484 Absent triceps Absence of the triceps muscle. HP:0008454 Lumbar kyphosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008454 UMLS:C1844818 Lumbar gibbus deformity|Rounded lower back Over curvature of the lumbar region. HP:0020100 Unusual fungal infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020100 An unusual fungal infection that is regarded as a sign of a pathological susceptibility to infection by a fungal agent. HP:0008457 Caudal interpedicular narrowing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008457 UMLS:C1863734 Caudal narrowing of interpedicular distances Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine. HP:0009788 Quadriceps aplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009788 UMLS:C3805765 Absent quads Absence of the quadriceps muscle. HP:0020103 Invasive pulmonary aspergillosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020103 Infection of the lungs with aspergillus. In the respiratory mucosa, the spores may germinate into hyphae, which in turn can invade the mucosa leading to invasive pulmonary aspergillosis. HP:0007126 Proximal amyotrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007126 UMLS:C1850794 Proximal muscle wasting|Symmetric proximal muscular atrophy|Wasting of muscles near the body|Proximal muscle atrophy|Symmetrical, proximal limb muscle atrophy|Muscle atrophy, proximal Amyotrophy (muscular atrophy) affecting the proximal musculature. HP:0008456 C2-C3 subluxation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008456 UMLS:C2678323 A partial dislocation of the intervertebral joint between the second and third cervical vertebrae. HP:0020102 Pneumocystis jirovecii pneumonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020102 An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnoea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing. HP:0009787 Aplasia/Hypoplasia of the quadriceps biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009787 UMLS:C4024206 Absent/small quadriceps|Absent/underdeveloped quadriceps Absence or underdevelopment of the quadriceps muscle. HP:0009782 Aplasia/Hypoplasia of the biceps biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009782 UMLS:C4024209 Absent/small biceps|Absent/underdeveloped biceps Absence or underdevelopment of the biceps muscle. HP:0008451 Posterior vertebral hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008451 UMLS:C1856780 HP:0009781 Lester's sign biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009781 UMLS:C4024210 A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape. HP:0008450 Narrow vertebral interpedicular distance biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0008450 UMLS:C1832598 Narrow interpedicular space|Interpedicular narrowing|Narrowing of interpediculate distances|Narrow interpediculate distances A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces. HP:0009784 Aplasia/Hypoplasia of the triceps biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009784 UMLS:C4024208 Absent/small triceps|Absent/underdeveloped triceps Absence or underdevelopment of the triceps muscle. HP:0008453 Congenital kyphoscoliosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008453 UMLS:C0345392|SNOMEDCT_US:405772002 HP:0008452 Wafer-thin platyspondyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008452 UMLS:C1865124 HP:0009783 Biceps aplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009783 UMLS:C3805764 Absent biceps Absence of the biceps muscle. HP:0033471 10-minute APGAR score of 3 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033471 HP:0032140 Decreased specific antibody response to vaccination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032140 A reduced ability to synthesize postvaccination antibodies against toxoids and polysaccharides in vaccines, as measured by antibody titer determination following vaccination. HP:0033470 10-minute APGAR score of 2 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033470 HP:0008470 Lower thoracic interpediculate narrowness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008470 UMLS:C1854940 Narrowness of interpediculate distances in lower thoracic regions A reduction of the distance between the lower thoracic vertebral pedicles. HP:0032145 Sural nerve atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032145 Atrophy of sural nerve Wasting of the sural nerve, a sensory nerve in the calf region of the leg. HP:0010775 Vascular ring biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010775 SNOMEDCT_US:110409004|UMLS:C0221214|Fyler:2760|SNOMEDCT_US:66403007 Vascular ring of aorta A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails. HP:0033477 Abnormal circulating lipoprotein lipase concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033477 A deviation from the normal concentration of lipoprotein lipase in the blood circulation. HP:0010774 Cor triatriatum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010774 Fyler:3031|ICD-10:Q24.2|UMLS:C4023708 Triatrial heart The presence of an additional membrane in the left or right cardiac atrium which results in the subdivision of the affected atrium (and thus in total three atria, whence the name). HP:0033476 Extractable nuclear antigen positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033476 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. HP:0032146 HbC hemoglobin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032146 HbC haemoglobin|Hemoglobin C Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a lysine (6GAG>6AAG). The presence of HbC can be determined by hemoglobin electrophoresis. HP:0032147 Erythromelalgia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032147 Recurrent episodes of redness, burning pain, and warmth of the extremities following exposure to heat or exercise with symptoms predominantly involving the feet. HP:0010773 Partial anomalous pulmonary venous return biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010773 Fyler:2030|UMLS:C0158634|SNOMEDCT_US:68237008 Partial anomalous pulmonary venous connection A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung. HP:0033479 Abnormal circulating bilirubin concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033479 HP:0010772 Anomalous pulmonary venous return biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010772 SNOMEDCT_US:111323005|SNOMEDCT_US:39905002|MSH:D012587|UMLS:C0036400 A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood. HP:0032148 Episodic pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032148 Intermittent pain, i.e., pain that occurs occasionally and at irregular intervals. HP:0033478 Increased circulating lipoprotein lipase concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033478 Elevated lipoprotein lipase level Increased concentration of lipoprotein lipase in the blood circulation. HP:0032141 Precordial pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032141 A type of chest pain that arises in the or under the left breast and often described as throbbing, stabbing, or burning, and lasting hours or longer. The pain may arise with or after effort, and may spread to the left arm or left side of the neck. HP:0010771 Pilonidal abscess biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010771 UMLS:C3537055|SNOMEDCT_US:85224001 Sacrococcygeal fistula A hair-containing cyst or sinus usually in the coccygeal region. HP:0033473 10-minute APGAR score of 5 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033473 HP:0010770 Pilonidal fistula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010770 MSH:D010864|UMLS:C0031925|SNOMEDCT_US:47639008 HP:0032142 Fetor hepaticus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032142 Foetor hepaticus Fetor hepaticus is the characteristic breath of patients with severe parenchymal liver disease, which has been said to resemble the odor of a mixture of rotten eggs and garlic. HP:0033472 10-minute APGAR score of 4 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033472 HP:0032143 Burning mouth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032143 An intense sensation of burning, scalding, or tingling feeling of the tongue or other regions of the oral mucosa. HP:0033475 Limited shoulder abduction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033475 Decreased ability to move the arm away from the midline of the body. HP:0032144 Coffee ground vomitus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032144 Coffee grounds emesis|Coffee grounds vomiting Vomit that has the appearance of coffee grounds, which occurs due to the presence of coagulated blood in the vomit. HP:0033474 10-minute APGAR score of 6 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033474 HP:0010779 Large pelvis bone biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010779 UMLS:C4072882|UMLS:C4019074 Large pelvis bone|Large pelvis The presence of an abnormally large pelvis. HP:0032149 Breakthrough pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032149 A episode of severe pain that breaks through (i.e., temporarily exacerbates) a period of persistent pain. HP:0010778 Tracheomegaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010778 UMLS:C4023705 Marked widening of the trachea. HP:0008469 Cervical vertebral dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008469 MSH:C566140|UMLS:C1861693 Dysplasia of the cervical vertebral column. HP:0010777 Bronchomegaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010777 UMLS:C4023706 Marked widening of the major bronchi that may be predispose to chronic respiratory tract infection. HP:0010776 Tracheobronchmegaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010776 UMLS:C4023707 Marked widening of the trachea and major bronchi that may be predispose to chronic respiratory tract infection. HP:0009797 Cholesteatoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009797 SNOMEDCT_US:575006|UMLS:C0008373|SNOMEDCT_US:363668000|MSH:D002781 Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear. HP:0009796 Branchial cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009796 UMLS:C0006131|SNOMEDCT_US:59857007|MSH:D001935|SNOMEDCT_US:42362005 Branchial cleft cyst|Branchial cysts A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region. HP:0008465 Absent vertebra biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008465 SNOMEDCT_US:15843004|UMLS:C0158776 Absent vertebrae A developmental defect characterized by agenesis of one or more vertebral bodies. HP:0009799 Supernumerary spleens biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009799 UMLS:C0266631|SNOMEDCT_US:10362008 Extra spleen The presence of two or more accessory spleens. HP:0008468 Abnormal sacral segmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008468 UMLS:C1968942 An abnormality related to a defect of vertebral separation of sacral vertebrae during development. HP:0009798 Euthyroid goiter biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009798 SNOMEDCT_US:32251000119106|MSH:C562732|UMLS:C0302859 Euthyroid goitre A goiter that is not associated with functional thyroid abnormalities. HP:0008467 Thoracic hemivertebrae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008467 UMLS:C4020799|SNOMEDCT_US:95304000|UMLS:C0432152 Midthoracic hemivertebrae Absence of one half of the vertebral body in the thoracic spine. HP:0008462 Cervical instability biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008462 UMLS:C1863314 HP:0009793 Presacral teratoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009793 UMLS:C1867782 Altman type IV sacrococcygeal teratoma|Retrorectal teratoma A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV). HP:0007131 Acute demyelinating polyneuropathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007131 UMLS:C4024933 Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration. HP:0009792 Teratoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009792 MSH:D013724|NCIT:C3403|UMLS:C0039538|SNOMEDCT_US:55818009 The presence of a teratoma. HP:0008461 Cervical vertebral facet hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008461 UMLS:C4024673 HP:0009795 Branchial fistula biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009795 SNOMEDCT_US:204268008|UMLS:C0546968 Branchial cleft fistula A congenital fistula in the neck resulting from incomplete closure of a branchial cleft. HP:0008464 Absent spinous processes of lower thoracic and lumbar vertebrae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008464 UMLS:C4024671 HP:0007132 Pallidal degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007132 UMLS:C0393577|SNOMEDCT_US:230302004 Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement. HP:0009794 Branchial anomaly biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009794 UMLS:C1862066 Abnormality of branchial arch|Abnormality of branchial apparatus|Branchial abnormality|Branchial anomalies Congenital developmental defect arising from the primitive branchial apparatus. HP:0007133 Progressive peripheral neuropathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007133 UMLS:C1859178 Progressive polyneuropathy HP:0008463 Central vertebral hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008463 UMLS:C4024672 HP:0007193 Bilateral tonic-clonic seizure on awakening biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007193 UMLS:C1847165 Generalised tonic-clonic seizures on awakening|Morning generalized tonic-clonic seizures|Generalized tonic-clonic seizures on awakening Bilateral tonic-clonic seizure of either generalized or focal onset occurring on or soon after wakening (typically within 90 minutes of waking, regardless of the time of day). HP:0007190 Neuronal loss in the cerebral cortex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007190 UMLS:C1849485 HP:0033400 Acute abdomen biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033400 Acute abdominal pain A sudden onset of abdominal pain with associated nausea or vomiting. The acute abdomen may be caused by an infection, inflammation, vascular occlusion, or obstruction. HP:0033402 Digital ischemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033402 Restriction of arterial blood supply to a digit (finger or toe) associated with insufficient oxygenation to support the metabolic requirements of the digit. Clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. HP:0033401 Tissue ischemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033401 Ischemia is defined as a restriction of arterial blood supply to a tissue associated with insufficient oxygenation to support the metabolis requirements of the tissue. Depending on the involved tissues, clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. Additional associated manifestations include hemodynamic parameters (reduced blood pressure distal to the site of restricted arterial supply) and angiographic evidence of arterial occclusion. HP:0033408 Elevated circulating acetoacetic acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033408 An increased level of acetoacetic acid in the blood circulation. Acetoacetic acid is one of the predominant ketone bodies. HP:0033407 Elevated urine acetoacetic acid level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033407 Elevated amount of acetoacetic acid in the urine. HP:0020161 Branch retinal artery occlusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020161 Blockage of a branch of the retinal artery. This can cause loss of a section of visual field. HP:0020160 GM1-ganglioside accumulation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020160 Cellular accumulation of GM1 gangliosides. HP:0033409 Elevated urinary 2-hydroxybutyric acid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033409 An increased amount of 2-hydroxybutyric acid in the urine. HP:0033404 Intestinal ischemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033404 Restriction of arterial blood supply to a testis associated with insufficient oxygenation to support the metabolic requirements of the digit. Acute intestinal ischemia can involve the small or large intestine, and usually presents with sudden severe non-specific abdominal pain. HP:0033403 Testicular ischemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033403 Restriction of arterial blood supply to a testis associated with insufficient oxygenation to support the metabolic requirements of the digit. Clinical manifestations may include pain and swelling of the affected testis. HP:0033406 Elevated circulating o-phosphoethanolamine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033406 An increased concentration of o-phosphoethanolamine in the blood circulation. HP:0033405 Abnormal circulating organic amino compound concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033405 Any deviation from the normal concentration of an organic amino compound, defined as a compound formally derived from ammonia by replacing one, two or three hydrogen atoms by organyl groups. HP:0020167 Hemiretinal vein occlusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020167 A variant of central retinal vein occlusions that involves the superior or inferior half of the retina. HP:0020166 Central retinal vein occlusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020166 Central retinal vein occlusion is an occlusion of the main retinal vein posterior to the lamina cribrosa of the optic nerve and is typically caused by thrombosis. HP:0020169 Abnormal drug response biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020169 An anomlous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy. HP:0020163 Cilioretinal artery occlusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020163 Blockage of the cilioretinal artery. The central retinal artery supplies the inner retina and the surface of the optic nerve. In some individuals, the cilioretinal artery, a branch of the ciliary circulation, may supply a portion of the retina including the macula. In cilioretinal artery occlusion, vision loss results from cell death in the inner retinal layers (mainly ganglion cells) despite relative sparing of the outer layers. HP:0007185 Loss of consciousness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007185 UMLS:C0041657|MSH:D014474|SNOMEDCT_US:419045004|SNOMEDCT_US:418107008 Passing out|Loss of consciousness HP:0007187 Focal lissencephaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007187 UMLS:C1855230 A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure that affects a particular part of the cortex. HP:0020165 Branch retinal vein occlusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020165 Blockage of a branch of the retinal vein. It may present with sudden-onset of painless vision loss or visual field defect correlating to the area of perfusion of the obstructed vessels. HP:0007188 Congenital facial diplegia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007188 MSH:C531747|UMLS:C0853240 Congenital bilateral facial palsy|Congenital bilateral facial weakness Facial diplegia (that is, bilateral facial palsy) with congenital onset. HP:0020164 Ophthalmic artery occlusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020164 A partial or complete obstruction of the ophthalmic artery (branch of the internal carotid artery) that may lead to severe ischemia of the affected globe and associated ocular tissues. It can present with a similar picture to central retinal artery occlusion; however, profound choroidal ischaemia also occurs. HP:0020159 Reduced response to gonadotropin-releasing hormone stimulation test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020159 Reduce response to GnRH stimulation test Failure of the gonadotropin-releasing hormone (GnRH) stimulation test to induce an appropriate increased in luteinizing hormone (LH), follicle-stimulating hormone (FSH) levels. HP:0033411 Lower extremity akinesia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033411 Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the lower extremities. HP:0033410 Elevated circulating cartilage oligomeric matrix protein concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033410 An increased blood concentration of cartilage oligomeric matrix protein (COMP). HP:0033413 Upper extremity hypokinesia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033413 Hypokinesia of the upper extremities Abnormally diminished movement of the upper extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency. HP:0033412 Upper extremity akinesia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033412 Akinesia of the upper extremities Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the upper extremities. HP:0033419 Elevated circulating 3-hydroxybutyric acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033419 Elevation of the 3-hydroxybutyric acid concentration in the blood above the normal range. HP:0033418 Elevated circulating 2-hydroxybutyric acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033418 Elevation of the 2-hydroxybutyric acid concentration in the blood above the normal range. HP:0020150 Elevated urinary uromodulin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020150 Elevated urinary Tamm-Horsfall protein concentration An increased amount of uromodulin (also known as Tamm Horsfall protein) in the urine. OBO:hp#abbreviation abbreviation biolink:OntologyClass hp http://purl.obolibrary.org/obo/hp#abbreviation HP:0033415 Cardiac tamponade biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033415 The accumulation of pericardial fluid with subsequent compression of all cardiac chambers which prevents cardiac filling. HP:0033414 Lower extremity hypokinesia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033414 Hypokinesia of the lower extremities Abnormally diminished movement of the lower extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency. HP:0033417 Elevated circulating hydroxybutyric acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033417 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. HP:0033416 Hip adductor weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033416 Reduced ability to bring the leg toward the midline of the body. HP:0020156 Abnormal zona pellucida morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020156 Abnormal structure of the oocyte extracellular matrix region known as teh zona pellucida. HP:0020155 Abnormal oocyte morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020155 An abnormal structure of the female germ cell (egg cell). HP:0020158 Increased circulating adrenic acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020158 Increased circulating docosatetraenoate level An increased concentration of adrenic acid (also known as cis-7,10,13,16-Docosatetraenoic acid) in the blood circulation. HP:0020157 Thin zona pellucida biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020157 Reduced thickness of the zona pellucida. HP:0020152 Distal joint laxity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020152 Lack of stability of a distal joint (e.g., finger). HP:0020151 Anti-dsDNA antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020151 The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA. HP:0020154 Nevus comedonicus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020154 A type of epidermal nevus characterized by closely arranged, dilated follicular openings with keratinous plugs resembling classical comedones. HP:0007199 Progressive spastic paraparesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007199 UMLS:C0747251 HP:0020153 Positive blood 1,3 beta glucan test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020153 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. HP:0020149 Elevated circulating succinate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020149 An increase concentration of succinate in the blood circulation. HP:0020148 Increased circulating mead acid level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020148 An abnormally elevated concentration od mead acid in the blood circulation. HP:0033422 Pulmonary artery adventitial fibrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033422 Increased amount of collagen, proteoglycans, and other extracellular matrix proteins resulting in scarring and thickening in the adventia of the pulmonary arterial tree. HP:0033421 Pulmonary artery intimal thickening biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033421 Increased thickness of the intimal layer of the pulmonary artery. Throughout the pulmonary arterial tree, the thin intima consists of a non-fenestrated monolayer of endothelial cells lining the vessel lumen, as well as a sub-endothelial interstitium that extends to the internal elastic lamina. Intimal thickness in human lung ranges from 1-16% of total wall thickness. Pulmonary artery intimal thickening can be defined as a relative intima thickness to the thickness of the vessel wall of over 10%. HP:0033424 Pulmonary arterial hypertension with lack of acute response to NO challenge biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033424 A form of pulmonary arterial hypertension with lack of adequate hemodynamic response to NO challenge (adequate response is defined as a reduction of mean pulmonary artery pressure (mPAP) of at least 10 mmHg to reach an absolute value of mPAP 40 mmHg or less with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm). HP:0033423 Pulmonary arterial hypertension with positive acute response to NO challenge biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033423 A form of pulmonary arterial hypertension in which there is a reduction of mean pulmonary artery pressure (mPAP) at leasy 10 mmHg to reach an absolute value of mPAP not more than 40 mmHg with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm. HP:0033420 Pulmonary arterial plexiform lesion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033420 Focal proliferation of pulmonary artery endothelial cells, leading to the formation of complex capillary-like channels. HP:0033429 Neuroinflammation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033429 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. HP:0033426 Pulmonary air embolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033426 Venous air embolism Venous air embolism is a consequence of air being introduced into the venous circulation, and subsequently to the right heart, and pulmonary circulation. When small amounts of air reach pulmonary circulation they can be removed by gas diffusion across the arteriolar wall into the alveoli, amounts of gas exceeding 50 ml can cause pulmonary outflow tract obstruction with or without concomitant arterial embolisation. HP:0033425 Periungual erythema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033425 Erythema (redness of the skin caused by hyperemia in superficial capillaries) in the region surrounding a fingernail or toe nail. HP:0033428 Systemic autoinflammation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033428 Dysregulation of the innate immune system characterized by systemic pathobiology, i.e., with symptoms that can affect the entire body. HP:0033427 Pulmonary capillary angioectasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033427 Focal accumulation of dilated pulmonary capillaries. HP:0008499 High hypermetropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008499 UMLS:C4024665 High-grade hypermetropia|High hyperopia|Severe long-sightedness|Severe farsightedness A severe form of hypermetropia with over +5.00 diopters. HP:0020145 Calcium oxalate crystalluria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020145 The presence of calcium oxalate crystals in the urine. HP:0008498 No permanent dentition biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008498 UMLS:C4024666 Absence of secondary dentition|No secondary dentition|Missing adult teeth|Absence of adult teeth|No adult dentition HP:0020144 Calcium phosphate crystalluria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020144 The presence of calcium phosphate crystals in the urine. HP:0020147 2-Methylbutyryl glycinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020147 Increased concentration of 2-methylbutyryl glycine in the urine. HP:0020146 Calcium carbonate crystalluria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020146 The presence of calcium carbonate crystals in the urine. HP:0020141 Blood pressure substantially higher in legs than arms biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020141 Blood pressure substantially lower in upper than lower extremities|Blood pressure substantially lower in arms than legs|Blood pressure substantially higher in lower than upper extremities An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the legs being much higher than the blood pressure measure in the arms. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm. HP:0007163 obsolete Corticospinal tract disease in lower limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007163 HP:0020140 History of recent tick bite biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020140 Medical history of a recent bite injury due to a tick. HP:0007164 Slowed slurred speech biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007164 UMLS:C4024929 Slowed slurred speech HP:0008494 Inferior lens subluxation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008494 UMLS:C2036842 Inferior subluxated lens Partial displacement of the lens in the inferior direction. HP:0020143 Tracheal duplication cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020143 A cyst in the trachea, whose wall is made up by tissue similar to the bronchial tree, including cartilage and smooth muscle, and is lined by secretory respiratory epithelium composed of cuboid or columnar ciliated epithelium. HP:0007165 Periventricular heterotopia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007165 UMLS:C1849173 Subependymal gray matter heterotopia|Periventricular neuronal heterotopia|Subependymal neuronal heterotopia|Periventricular gray matter heterotopia A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass. HP:0008497 Congenital craniofacial dysostosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008497 UMLS:C4024667 HP:0007166 Paroxysmal dyskinesia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007166 UMLS:C0752210|UMLS:C1836174|MSH:D002819 Involuntary dystonic or choreiform movements Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks. HP:0008496 Multiple rows of eyelashes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008496 UMLS:C0423848|SNOMEDCT_US:95339000|UMLS:C3550336 Multiple rows of eyelashes|Two rows of eyelashes|Extra rows of eyelashes|Double row of eyelashes HP:0020142 Blood pressure substantially higher in arms than legs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020142 Blood pressure substantially higher in upper than lower extremities|Increased arm-leg blood pressure gradient An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the arms being much higher than the blood pressure measure in the legs. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm. HP:0007181 Interosseus muscle atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007181 UMLS:C1846829 Interosseous muscular atrophy Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones. HP:0007182 Peripheral hypomyelination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007182 UMLS:C4024927 Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system. HP:0007183 Focal T2 hyperintense basal ganglia lesion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007183 UMLS:C4024926|UMLS:C1865351 Hyperintense lesions in the basal ganglia on MRI A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia. HP:0020138 History of recent animal bite biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020138 Medical history of a recent bite injury due to an animal. HP:0020137 Anticardiolipin IgM antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020137 The presence of circulating IgM autoantibodies to cardiolipin. HP:0020139 History of recent insect bite biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020139 Medical history of a recent bite injury due to an insect. HP:0033433 Ileocecal ulcer biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033433 Ileo-cecal ulcer An erosion of the mucous membrane in the region connecting the ileum and cecum. HP:0032101 Unusual infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032101 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. HP:0032102 Wilson sign biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032102 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. HP:0033432 Opportunistic viral infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033432 HP:0033435 Abnormal circulating keto acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033435 A deviation from the normal concentration of a keto acid in the blood circulation. Keto acids or ketoacids are organic compounds that contain a carboxylic acid group and a ketone group. HP:0032104 Saccadic oscillation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032104 Saccadic oscillations An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by an immediate corrective saccade. HP:0033434 Nasal septum perforation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033434 Perforation of the nasal septum|Nasal-septum perforation A full-thickness defect of the nasal septum. HP:0033431 Cytomegalovirus colitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033431 CMV colitis A form of cytomegalovirus infection characterized by infection and inflammation of the colon. HP:0033430 Non-infectious meningitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033430 Inflammation of the layers of tissue that cover the brain and spinal cord (meninges) and of the fluid-filled space between the meninges (subarachnoid space) when it is caused by disorders that are not infections or by drugs or vaccines. HP:0032100 Abnormal doll's eye reflex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032100 The doll's eye reflex (also known as oculocephalic reflex) is a test of brain function that is performed in comatose patients by elevating the head roughly 30 degrees and rapidly rotating the head from side to side with the eyes kept open. A normal response is for the eyes to move in the opposite direction. If the eyes do not move in the opposite direction this may indicate severe brain damage. HP:0032109 Moderately reduced contrast sensitivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032109 Moderate reduction in contrast sensitivity A moderate reduction in the ability to perceive visual contrast characterized by 0.60-0.99 log unit contrast sensitivity loss. HP:0033437 Elevated circulating 4-methyl-2-oxopentanoic acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033437 Increased circulating alpha-ketoisocaproic acid concentration Abnormal increase of the concentration of 4-methyl-2-oxopentanoic acid in the blood circulation. HP:0032105 Macrosaccadic oscillations biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032105 Macrosaccadic oscillation A type of saccadic oscillations with brief periods of fixation between saccades (intersaccadic interval approximately 200 msec). Macrosaccadic oscillations (up to 40 degrees) straddle the intended fixation position and show a crescendo-decrescendo pattern. HP:0033436 Elevated circulating 3-methyl-2-oxovaleric acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033436 An abnormally increased concentration of 3-methyl-2-oxovaleric acid in the blood circulation. HP:0032106 Conjunctival icterus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032106 Yellow conjunctiva|Scleral icterus|Yellowing of the whites of the eyes|Yellow sclera Conjunctival icterus is a condition where there is yellowing of the whites of the eyes. This is most commonly seen in patients who have liver disease. HP:0032107 Limbal stem cell deficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032107 A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus. HP:0033439 Elevated circulating decenoylcarnitine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033439 Elevated circulating O-decenoylcarnitine concentration|Elevated plasma decenoylcarnitine, C10:1 Increased concentration of decenoylcarnitine in the blood circulation. HP:0033438 Elevated circulating myoglobin concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033438 An increased blood concentration of myoglobin. HP:0032108 Mildly reduced contrast sensitivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032108 Mild reduction in contrast sensitivity A mild reduction in the ability to perceive visual contrast characterized by 0.20-0.59 log unit contrast sensitivity loss. HP:0020134 Increased urine neutrophil count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020134 Abnormally increased count of neutrophils in urine. HP:0007178 Motor polyneuropathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007178 SNOMEDCT_US:85423005|UMLS:C0235025|SNOMEDCT_US:95663000|MSH:D009443|MSH:D011115|UMLS:C0271683 Peripheral motor neuropathy HP:0007179 Absent smooth pursuit biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007179 UMLS:C4024928 A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion. HP:0020133 Podocyte hypertrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020133 Hypertrophy of visceral epithelial cells|Glomerular visceral epithelial cell hypertrophy Increased visceral epithelial cell size, with or without cytoplasmic protein droplets. HP:0020136 Anticardiolipin IgG antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020136 The presence of circulating IgG autoantibodies to cardiolipin. HP:0020135 Myofibromatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020135 A mesenchymal neoplasm characterized by solitary or multiple nodules involving the skin, striated muscles, bones and, sometimes, viscera. It usually appears as a subcutaneous nodule, but can also appear as an ulcer, pedunculated lesion, or similar to a hemangioma. Histology shows well-circumscribed tapered cell lobes, resembling smooth muscle cells. At its center, perivascular round cells (hemangiopericitoides) are usually observed, giving a biphasic appearance. HP:0020130 Increased urinary neutrophil gelatinase-associated lipocalin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020130 Increased urinary NGAL An increased concentration of neutrophil gelatinase-associated lipocalin in the urine (there is no generally accepted threshold, but some studies choose a threshold of above 150 nanogram per milliliter). HP:0020132 Thickening of the tubular basement membrane biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020132 Increase in thickness of the basement membrane of the tubulus of the kidney. HP:0020131 Abnormal tubular basement membrane morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020131 Abnormal structure of the basement membrane of the renal tubulus. HP:0010720 Abnormal hair pattern biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010720 UMLS:C4023721 Abnormal hair pattern|Abnormal distribution of hair An abnormality of the distribution of hair growth. HP:0009728 Neoplasm of striated muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009728 UMLS:C4021396|NCIT:C3262 Tumors of striated muscle A benign or malignant neoplasm (tumour) originating in striated muscle, either skeletal muscle or cardiac muscle. HP:0010728 Aplasia of the retina biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010728 UMLS:C4023718 Absent retina A developmental defect characterized by absence of the retina. HP:0009727 Achromatic retinal patches biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009727 UMLS:C1860710 Punched out areas of chorioretinal hypopigmentation Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina. HP:0010727 Spontaneous rupture of the globe biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010727 UMLS:C4023719 Rupture of the eyeball not due to trauma. HP:0010726 Prominent corneal nerve fibers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010726 UMLS:C4021233 Visible corneal nerve fibers|Prominent corneal nerve fibres Abnormal prominence of the corneal nerve fibers. HP:0009729 Cardiac rhabdomyoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009729 UMLS:C1332852 A benign tumor of cardiac striated muscle. HP:0009724 Subungual fibromas biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009724 UMLS:C0266003|SNOMEDCT_US:39295002 Subungual fibroma The presence of fibromata beneath finger or toenails. HP:0010724 Advanced pneumatization of the mastoid process biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010724 UMLS:C4021828 An abnormally advanced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms. HP:0010723 Cystic lesions of the pinnae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010723 UMLS:C4023720 HP:0009723 Abnormality of the subungual region biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009723 UMLS:C4024219 A lesion located beneath a fingernail or toenail. HP:0009726 Renal neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009726 UMLS:C0022665|SNOMEDCT_US:126880001|NCIT:C3262|UMLS:C1378703|MSH:D007680 Renal neoplasia|Kidney cancer|Neoplasia of the kidneys|Renal tumors The presence of a neoplasm of the kidney. HP:0010722 Asymmetry of the ears biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010722 UMLS:C1168239 Asymmetric ears An asymmetriy, i.e., difference in size, shape or position between the left and right ear. HP:0009725 Bladder neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009725 UMLS:C0005695|NCIT:C3262|SNOMEDCT_US:126885006|MSH:D001749 Bladder tumor|Bladder cancer The presence of a neoplasm of the urinary bladder. HP:0010721 Abnormal hair whorl biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010721 UMLS:C3280303 Abnormal hair whorls|Abnormal whorl of hair|Abnormal hair whorl An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair). HP:0009720 Adenoma sebaceum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009720 MSH:D014402|UMLS:C0265319|SNOMEDCT_US:36025004|UMLS:C1368816|SNOMEDCT_US:78424008 Sebaceous adenoma|Sebaceous adenomas|Facial angiofibromas The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin. HP:0009722 Dental enamel pits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009722 UMLS:C1860711 Pitting of tooth enamel|Dental enamel pits|Tooth enamel pits|Dental enamel pitting The presence of small depressions in the dental enamel. HP:0009721 Shagreen patch biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009721 SNOMEDCT_US:254244007|UMLS:C0432363 A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled, The word shagreen refers to a type of roughened untanned leather. HP:0010729 Cherry red spot of the macula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010729 UMLS:C2216370 Macular cherry red spot 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. HP:0009739 Hypoplasia of the antihelix biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009739 UMLS:C4021394 Hypoplastic antihelix Developmental hypoplasia of the antihelix. HP:0010717 Osseous syndactyly of toes biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010717 UMLS:C0158738|SNOMEDCT_US:38859008|SNOMEDCT_US:32113001 Osseous syndactyly of the toes Webbing or fusion of the toes, involving soft parts and including fusion of individual bones of the toes. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a tibial-fibular axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism". HP:0009738 Abnormality of the antihelix biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009738 UMLS:C4021395 Abnormal antehelix|Abnormal antihelix|Abnormal anthelix An abnormality of the antihelix. HP:0010716 3-5 toe syndactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010716 UMLS:C4023723 Webbed 3rd-5th toes Syndactyly with fusion of toes three to five. HP:0008407 Hyperconvex thumb nails biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008407 UMLS:C1855290 Tightly curved thumb nail HP:0010715 2-5 toe syndactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010715 UMLS:C4023724 Webbed 2nd-5th toes Syndactyly with fusion of toes two to five. HP:0010714 2-4 toe syndactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010714 UMLS:C4021234 Syndactyly toes 2-4|Syndactyly of toes 2, 3 and 4|Webbed 2nd-4th toes Syndactyly with fusion of toes two to four. HP:0009735 Spinal neurofibromas biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009735 UMLS:C4024217 Neurofibromas originating in the spine. HP:0008404 Nail dystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008404 SNOMEDCT_US:87065009|UMLS:C0221260|MEDDRA:10028698 Dystrophic nails|Poor nail formation|Onychodystrophy Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. HP:0010713 1-5 toe syndactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010713 UMLS:C4021235 Syndactyly of all toes|Webbed 1st-5th toes Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot). HP:0010712 1-4 toe syndactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010712 UMLS:C4023725 Webbed first through fourth toes Syndactyly with fusion of toes one to four. HP:0009734 Optic nerve glioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009734 SNOMEDCT_US:404662003|MSH:D020339|UMLS:C0346326|SNOMEDCT_US:254976006 Optic glioma A glioma originating in the optic nerve or optic chiasm. HP:0010711 1-2 toe syndactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010711 UMLS:C4023726 Webbed first and second toes|Webbed 1st-2nd toes Syndactyly with fusion of toes one and two. HP:0009737 Lisch nodules biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009737 UMLS:C1860334 Iris hamartomas The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris.. HP:0009736 Tibial pseudarthrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009736 UMLS:C4024216 Tibial pseudoarthrosis Pseudarthrosis, or "false joint" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life. HP:0010710 3-5 finger syndactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010710 UMLS:C4023727 Webbed third, fourth and fifth toes Syndactyly with fusion of fingers three to five. HP:0008400 Onycholysis of distal fingernails biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008400 UMLS:C4024680 Detachment of outermost fingernails Detachment of the distal fingernails from the nail bed. HP:0009731 Cerebral hamartoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009731 UMLS:C4024218 Cerebral hamartomata The presence of a hamartoma of the cerebrum. HP:0009730 Rhabdomyoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009730 SNOMEDCT_US:302846007|SNOMEDCT_US:402877008|MSH:D012207|NCIT:C3358|SNOMEDCT_US:43375002|UMLS:C0035411 A benign tumor of striated muscle. HP:0009733 Glioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009733 SNOMEDCT_US:115240006|MSH:D005910|NCIT:C3059|SNOMEDCT_US:74532006|SNOMEDCT_US:393564001|UMLS:C0017638 The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes). HP:0008402 Ridged fingernail biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008402 UMLS:C1849392 Ridged fingernail|Longitudinally grooved fingernails|Ridged fingernails Longitudinal, linear prominences in the fingernail plate. HP:0008401 Onychogryposis of toenails biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008401 UMLS:C4024679 Overgrowth and curving of toenails Thickened toenails. HP:0009732 Plexiform neurofibroma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009732 SNOMEDCT_US:41252002|UMLS:C0206728|SNOMEDCT_US:403818001|MSH:D018318 A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure. HP:0010719 Abnormality of hair texture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010719 UMLS:C4072881|UMLS:C4023722|UMLS:C4072880|UMLS:C4073290 Abnormality of hair curl pattern|Abnormality of hair texture|Abnormality of hair volume|Abnormality of hair consistency An abnormality of the texture of the hair. HP:0009709 Increased CSF interferon alpha biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009709 UMLS:C1856983 Increased concentration of interferon alpha in the cerebrospinal fluid (CSF). HP:0010706 1-3 finger syndactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010706 UMLS:C4023730 Webbed 1st-3rd finger Syndactyly with fusion of fingers one to three. HP:0009706 Synostosis involving the 3rd metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009706 UMLS:C4024227 Fusion involving the 3rd long bone of hand HP:0010705 4-5 finger syndactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010705 UMLS:C4023731 Webbed 4th-5th finger Syndactyly with fusion of fingers four and five. HP:0009705 Synostosis involving the 2nd metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009705 UMLS:C4024228 Fusion involving the 2nd long bone of hand HP:0009708 Synostosis involving the 5th metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009708 UMLS:C4024225 Fusion involving the 5th long bone of hand HP:0010704 1-2 finger syndactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010704 UMLS:C4023732 Webbed thumb and index finger|Webbed 1st-2nd finger Syndactyly with fusion of fingers one and two. HP:0009707 Synostosis involving the 4th metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009707 UMLS:C4024226 Fusion involving the 4th long bone of hand HP:0009702 Carpal synostosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009702 UMLS:C0431863|SNOMEDCT_US:253930002 Carpal fusion|Synostosis involving the carpal bones|Carpal bone fusion|Fusion of carpal bones|Fused wrist bones|Fused carpal bones Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform). HP:0010702 Increased circulating antibody level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010702 MSH:D006942|UMLS:C0541985|UMLS:C0151669|SNOMEDCT_US:129646001|UMLS:C1306857|SNOMEDCT_US:127388009|UMLS:C0020455|UMLS:C2048011 Raised immunoglobulin levels|Hypergammaglobulinaemia|Increased antibody level in blood|Elevated immunoglobulin levels|Hyperglobulinemia|Increased gamma globulin|Increased serum gamma globulin|Increased immunoglobulin level|Hypergammaglobulinemia An increased level of gamma globulin (immunoglobulin) in the blood. HP:0010701 Abnormal immunoglobulin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010701 UMLS:C1855755 Abnormal serum immunoglobulin levels|Abnormal serum immunoglobulin concentration|Abnormal immunoglobulin concentration|Abnormal serum level of immunoglobulin|Immunoglobulin abnormality An abnormal deviation from normal levels of immunoglobulins in blood. HP:0009701 Metacarpal synostosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009701 UMLS:C4021398 Synostosis involving metacarpal bones|Fused long bones of hand|Synostosis involving the metacarpal bones 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). HP:0009704 Chronic CSF lymphocytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009704 UMLS:C4024229 Chronic cerebrospinal fluid lymphocytosis Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter. HP:0010700 obsolete Total cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010700 HP:0009703 Synostosis involving the 1st metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009703 UMLS:C4021397 Fusion involving 1st long bone of hand|First metacarpophalangeal joint synostosis|Symphalangism affecting the 1st metacarpal Fusion of the 1st metacarpal with another bone. In contrast to the proximal phalanges of the digits 2 to 5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. HP:0009700 Finger symphalangism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009700 UMLS:C4021399 Synostosis involving bones of the fingers|Symphalangism of the hand|Fused finger bones An abnormal union between bones or parts of bones of the fingers. The synonymous term "symphalangism of the hand" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as "Symphalangism" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as "bony" Syndactyly. HP:0010709 2-4 finger syndactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010709 UMLS:C4021236 Syndactyly of second to fourth fingers|Webbed index through ring fingers Syndactyly with fusion of the fingers two to four. HP:0010708 1-5 finger syndactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010708 UMLS:C4023728 Webbed 1-5 fingers|Webbed 1st-5th fingers Syndactyly with fusion of fingers one to five (complete syndactyly of all fingers of the hand). HP:0010707 1-4 finger syndactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010707 UMLS:C4023729 Webbed 1st-4th finger Syndactyly with fusion of fingers one to four. HP:0009717 Cortical tubers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009717 UMLS:C1968959 Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients. HP:0009716 Subependymal nodules biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009716 UMLS:C1968958 Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis or nodular heterotopia of grey matter. HP:0009719 Hypomelanotic macule biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009719 UMLS:C4024220 Hypomelanotic macules 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. HP:0009718 Subependymal giant-cell astrocytoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009718 MSH:D001254|SNOMEDCT_US:1586004|SNOMEDCT_US:449799008|UMLS:C0205768 A demarcated, largely intraventricular tumor in the region of the foramen of Monro composed of spindle to large plump or ganglion-like cells with eosinophilic to amphophilic cytoplasm and somewhat pleomorphic nuclei with occasional prominent nucleoli. These tumors are almost always associated with tuberous sclerosis. HP:0009713 Spinal hemangioblastoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009713 UMLS:C4024223|NCIT:C3801 A hemangioblastoma of the spinal cord. HP:0009715 Papillary cystadenoma of the epididymis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009715 UMLS:C4024221|NCIT:C2974 A cystadenoma, an epithelial tumor, that originates within the head of the epididymis. HP:0009714 Abnormality of the epididymis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009714 UMLS:C4024222 An abnormality of the epididymis. HP:0009711 Retinal capillary hemangioma biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009711 UMLS:C0730303|UMLS:C1514915|SNOMEDCT_US:312935003|NCIT:C3801 Retinal hemangioblastoma A benign vascular tumor of the retina without any neoplastic characteristics. HP:0009710 Chilblains biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009710 UMLS:C4024224 Chilblain lesions Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks. HP:0010764 Short eyelashes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010764 UMLS:C2748682 Decreased length of eyelashes|Short eyelashes Decreased length of the eyelashes (subjective). HP:0010763 Low insertion of columella biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010763 UMLS:C4021229|UMLS:C4280364 Columella, low insertion|Ala higher than columella Insertion of the posterior columella below the nasal base. HP:0010762 Chordoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010762 SNOMEDCT_US:50007008|MSH:D002817|NCIT:C2947|UMLS:C0008487 A chordoma is a tumors that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis. HP:0010761 Broad columella biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010761 UMLS:C1851059|UMLS:C4280365 Columella, broad|Fullness of columella|Hyperplasia of columella|Increased width of columella|Columella, wide Increased width of the columella. HP:0010760 Absent toe biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010760 UMLS:C3553754 Aplasia of toe|Absent toe|Absent toes|Aplasia of the toes Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues. HP:0007109 Periventricular cysts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007109 UMLS:C1839858 HP:0010769 Pilonidal sinus biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010769 SNOMEDCT_US:47639008|MSH:D010864|UMLS:C0031925 Pilonidal cyst A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris. HP:0009768 Broad phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009768 UMLS:C4021391 Wide hand bones|Widening of phalanges of the hand Increased width of the phalanges of the hand. HP:0007105 Infantile encephalopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007105 UMLS:C1856408 Encephalopathy with onset in the infantile period. HP:0008437 Bifid thoracic vertebrae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008437 UMLS:C2751478 HP:0010767 Sacrococcygeal pilonidal abnormality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010767 UMLS:C4023709 The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds. HP:0009767 Aplasia/Hypoplasia of the phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009767 UMLS:C1848670 Aplastic/hypoplastic phalanges of the hand|Hypoplastic/absent phalanges|Aplastic/hypoplastic phalanges Small or missing phalangeal bones of the fingers of the hand. HP:0008436 Absent/hypoplastic coccyx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008436 UMLS:C1856644 Absent/small tailbone|Absent/underdeveloped tailbone HP:0010766 Ectopic calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010766 UMLS:C3806226 Deposition of calcium salts in a tissue or location in which calcification does not normally occur. HP:0007107 Segmental peripheral demyelination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007107 UMLS:C4024938 A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system. HP:0008439 Lumbar hemivertebrae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008439 UMLS:C0432149|SNOMEDCT_US:93167001 Absence of one half of the vertebral body in the lumbar spine. HP:0007108 Demyelinating peripheral neuropathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007108 SNOMEDCT_US:23414001|UMLS:C0270922 Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies. HP:0009769 Bullet-shaped phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009769 UMLS:C1854952 Bullet-shaped phalanges of the hands|Conical bullet-shaped distal ends of phalanges|Bullet-shaped hand bones The presence of short and wide phalanges which taper distally ("bullet shaped"). HP:0008438 Vertebral arch anomaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008438 UMLS:C1835764 Vertebral arch abnormalities A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra. HP:0010765 Palmar hyperkeratosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010765 UMLS:C4023710 Hyperkeratosis affecting the palm of the hand. HP:0008433 Reversed usual vertebral column curves biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008433 UMLS:C4024676 HP:0008432 Anterior wedging of L1 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008432 UMLS:C4024677 An abnormality of the shape of the lumbar vertebra L1 such that it is wedge-shaped (narrow towards the front). HP:0009763 Limb pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009763 UMLS:C0030196|SNOMEDCT_US:90834002 Limb pain|Pain in extremities Chronic pain in the limbs with no clear focal etiology. HP:0007103 Hypointensity of cerebral white matter on MRI biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007103 UMLS:C4020908 White matter hypointensities on MRI A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter. HP:0008435 Absent in utero ossification of vertebral bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008435 UMLS:C1842698 HP:0007104 Prolonged somatosensory evoked potentials biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007104 UMLS:C4024939 HP:0009765 Low hanging columella biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009765 UMLS:C4280395|UMLS:C1856119 Columella extends below the ala nasi|Low-hanging columella|Rounded columella|Prominent columella|Columella, low hanging|Extension of the columella below the ala nasi|Columella, low Columella extending inferior to the level of the nasal base, when viewed from the side. HP:0008434 Hypoplastic cervical vertebrae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008434 UMLS:C1835570 Cervical vertebrae hypoplasia|Underdeveloped cervical vertebrae HP:0009760 Antecubital pterygium biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009760 UMLS:C1867439|MSH:C566738 Pterygium cubitale|Webbed elbow Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric. HP:0009762 Facial wrinkling biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009762 SNOMEDCT_US:248194004|UMLS:C0262478 Facial wrinkling Excessive wrinkling of the skin of the face. HP:0007100 Progressive ventriculomegaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007100 UMLS:C1865119 HP:0009761 Anterior clefting of vertebral bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009761 UMLS:C1849579 Anterior schisis (cleft or cleavage) of vertebral bodies. HP:0008430 Anterior beaking of lumbar vertebrae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008430 UMLS:C4021541 Anterior tongue-like protrusion of lumbar vertebral bodies Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine. HP:0009780 Iliac horns biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009780 SNOMEDCT_US:84308008|UMLS:C0263925 Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic. HP:0010753 Midline defect of mandible biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010753 UMLS:C4023714 Midline cleft of mandible HP:0010752 Cleft mandible biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010752 SNOMEDCT_US:92822004|UMLS:C0685786 Mandibular cleft|Cleft lower jaw Midline deficiency of the mandible and some or all overlying tissues. HP:0010751 Dimple chin biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010751 UMLS:C1849227 Chin skin dimple|Chin dent|Chin dimples|Dimple chin|Chin butt|Indentation of chin|Gelasin of chin|Chin dimple A persistent midline depression of the skin over the fat pad of the chin. HP:0010750 Dermatochalasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010750 SNOMEDCT_US:246815009|UMLS:C0423124|UMLS:C2674149 Redundant eyelid skin|Baggy eyes|Eyelid dermatochalasia|Extra eyelid skin|Droopy eyelid skin|Hooding of eyelids Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge. HP:0010759 Prominence of the premaxilla biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010759 UMLS:C2749369 Premaxillary bone excess|Prominence of the intermaxillary bone|Prominence of the primary palate bone|Anterior position of the premaxilla|Anterior position of the primary palate bone Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla. HP:0010758 Abnormality of the premaxilla biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010758 UMLS:C4023711 Abnormality of the intermaxillary bone|Abnormality of the premaxillary bone|Abnormality of the intermaxillary segment of the maxilla|Abnormality of the primary palate bone 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. HP:0010757 Aplasia of the premaxilla biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010757 UMLS:C4023712 Absence of the intermaxillary bone|Missing premaxilla|Aplasia of the primary palate bone|Absence of the primary palate bone|Failure of development of the primary palate bone|Absence of the premaxilla|Failure of development of premaxilla|Missing primary palate bone|Aplasia of the intermaxillary bone Absence of the premaxilla, which is the embryonic structure that forms the anterior part of the maxilla. HP:0009779 3-4 toe syndactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009779 UMLS:C1834062 Webbed 3rd-4th toes|syndactyly of 3rd - 4th toes Syndactyly with fusion of toes three and four. HP:0009778 Short thumb biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009778 UMLS:C0431890|MSH:C536903|SNOMEDCT_US:253936008 Thumb brachydactyly|Hypoplastic/small thumb|Hypoplastic thumb|Hypoplastic thumbs|Short thumb|Small thumbs|Short thumbs|Thumb hypoplasia Hypoplasia (congenital reduction in size) of the thumb. HP:0010756 Aplasia/Hypoplasia of the premaxilla biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010756 UMLS:C4023713 Aplasia/hypoplasia of the primary palate bone|Aplasia/hypoplasia of the intermaxillary bone Absence or underdevelopment of the premaxilla. HP:0008447 Hypoplastic coccygeal vertebrae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008447 UMLS:C2751480 HP:0007117 Corticospinal tract atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007117 UMLS:C1838868 HP:0010755 Asymmetry of the maxilla biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010755 SNOMEDCT_US:235083001|UMLS:C0399519 Tilted maxilla|Unequal sides of maxilla|Tilted upper jaw|Uneven maxilla|Asymmetry of right and left side of the maxilla|Canted maxilla|Crooked maxilla|Crooked upper jaw|Asymmetry of the upper jaw|Deviation of the upper jaw|Asymmetry of upper jaw|Canted upper jaw|Uneven upper jaw|Deviation of the maxilla Asymmetry between the left and right sides of the maxilla. HP:0010754 Abnormality of the temporomandibular joint biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010754 UMLS:C0266941|UMLS:C0424721|SNOMEDCT_US:248401009|UMLS:C1865318|SNOMEDCT_US:75630004|UMLS:C4280366 Derangement of the temporomandibular joint|Malformation of the temporomandibular joint|Deformity of the jaw joint|Anomaly of the temporomandibular joint|Abnormality of the jaw joint|Malformation of jaw joint|Deformity of the temporomandibular joint An anomaly of the temporomandibular joint. HP:0008449 Progressive cervical vertebral spine fusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008449 UMLS:C1851129 HP:0009775 Amniotic constriction ring biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009775 MSH:D000652|MSH:C535821|SNOMEDCT_US:238879003|UMLS:C1527388|SNOMEDCT_US:19988008|UMLS:C0334166 Amniotic constriction band|Pseudoainhum|Amniotic bands Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands. HP:0008444 Posterior wedging of vertebral bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008444 UMLS:C1969679 Posterior wedging An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back). HP:0007112 Temporal cortical atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007112 UMLS:C4024936 Atrophy of the temporal cortex. HP:0008443 Spinal deformities biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008443 UMLS:C0575157|SNOMEDCT_US:298380006 HP:0009774 Triangular shaped phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009774 UMLS:C2673397 Triangular shaped hand bones|Delta phalanx/delta-like phalanx HP:0009777 Absent thumb biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009777 UMLS:C3278811 Absent thumbs|Thumb aplasia|Absent thumb|Aplasia of the thumb Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues. HP:0009776 Adactyly biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009776 UMLS:C4280394|SNOMEDCT_US:275348004|UMLS:C0238591|Fyler:4173 Absent fingers or toes|Aphalangy The absence of all phalanges of all the digits of a limb and the associated soft tissues. HP:0008445 Cervical spinal canal stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008445 UMLS:C1844925 Narrow cervical spinal canal An abnormal narrowing of the cervical spinal canal. HP:0007115 Orbital encephalocele biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007115 SNOMEDCT_US:15671007|UMLS:C0271330 HP:0008440 C1-C2 vertebral abnormality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008440 UMLS:C4024675 Any abnormality of the atlas and the axis. HP:0009771 Osteolytic defects of the phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009771 MSH:D030981|UMLS:C0917990|SNOMEDCT_US:63122002|SNOMEDCT_US:27201004 Breakdown of small bones of fingers|Acroosteolysis|Acro-osteolysis Dissolution or degeneration of bone tissue of the phalanges of the hand. HP:0009770 Curved phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009770 UMLS:C4024211 Curved hand bones HP:0008442 Vertebral hyperostosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008442 UMLS:C1834057 Excessive growth of the bones of the vertebral bodies. HP:0007110 Central hypoventilation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007110 UMLS:C3805839 HP:0009773 Symphalangism affecting the phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009773 UMLS:C4021390 Synostosis involving phalanges of the hand|Fused finger bones of the hand Fusion of two or more phalangeal bones of the hand. HP:0009772 Patchy sclerosis of finger phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009772 UMLS:C1857508 Patchy sclerosis of the phalanges of the hand|Uneven increase in bone density in finger bone|Phalangeal sclerosis Uneven (irregular) increase in bone density of one or more of the phalanges of the hand. HP:0008441 Herniation of intervertebral nuclei biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0008441 MSH:D007405|UMLS:C1832597|SNOMEDCT_US:73589001|UMLS:C0021818 Herniated disk|Herniated intervertebral nuclei The presence of one or more herniated nucleus pulposus of intervertebral disk. HP:0007111 Chronic hepatic encephalopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007111 UMLS:C4024937 HP:0010742 Edema of the upper limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010742 UMLS:C0522035|SNOMEDCT_US:102558002 Fluid accumulation in upper limbs|Oedema of the upper limbs An abnormal accumulation of fluid beneath the skin of the arms. HP:0010741 Pedal edema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010741 UMLS:C0239340|SNOMEDCT_US:102572006|UMLS:C0235886 Fluid accumulation in lower limbs|Pedal oedema|Lower leg swelling|Leg edema|Dependant edema|Edema of the lower limbs|Dependant oedema|Peripheral edema of lower extremity An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg. HP:0010740 Osteopathia striata biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010740 SNOMEDCT_US:82663009|UMLS:C0265513 A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance. HP:0008419 Intervertebral disc degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008419 SNOMEDCT_US:77547008|UMLS:C0158266|MSH:D055959 Degenerative disc disease|Degeneration of intervertebral disks|Degenerative intervertebral disk The presence of degenerative changes of intervertebral disk. HP:0010749 Blepharochalasis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010749 UMLS:C0005742|SNOMEDCT_US:47704002 Saggy upper eyelid skin Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads. HP:0008418 Squared-off platyspondyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008418 UMLS:C1849051 HP:0010748 Ectopic lacrimal punctum biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010748 UMLS:C4021230 Abnormal position of the lacrimal punctum Positioning of a lacrimal punctum other than at the medial margins of the eyelid. HP:0010747 Medial flaring of the eyebrow biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010747 UMLS:C1844562 An abnormal distribution of eyebrow hair growth in the medial direction. HP:0009746 Thick nasal septum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009746 UMLS:C1844810 Wide nasal septum|Broad septum of nose|Wide septum of nose|Thick nasal septum|Broad nasal septum|Thick septum of nose Abnormally increased thickness of the nasal septum. HP:0010746 Hypoplasia of the phalanges of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010746 UMLS:C4023715 Small toe bones HP:0008414 Lumbar kyphosis in infancy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008414 UMLS:C1863423 Round back in infancy|Hunched back in infancy HP:0009745 Spinalarachnoid cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009745 UMLS:C4021393 Epidural arachnoid cysts of the spinal canal Presence of arachnoid cysts of the spinal canal extradurally in the epidural space. HP:0010745 Aplasia of the phalanges of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010745 UMLS:C4021231 Aphalangia of the toes|Absent bones of the toes Absence of a digit or of one or more phalanges of a toe. HP:0008417 Vertebral hypoplasia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0008417 UMLS:C0345394|SNOMEDCT_US:205456006 Underdeveloped vertebrae Small, underdeveloped vertebral bodies. HP:0009748 Large earlobe biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009748 UMLS:C1844573 Fleshy earlobes|Prominent ear lobes|Fleshy earlobe|prominent ear lobules|Large earlobe Increased volume of the earlobe, that is, abnormally prominent ear lobules. HP:0010744 Absent metatarsal bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010744 UMLS:C4021232 Aplasia of the metatarsal bones|Absent long bone of foot A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone. HP:0010743 Short metatarsal biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010743 UMLS:C1849020 Hypoplasia of the metatarsal bones|Short metatarsal bone|Shortened metatarsals|Short metatarsals|Hypoplastic metatarsals|Short long bone of foot|Short metatarsal bones Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe. HP:0008416 Six lumbar vertebrae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008416 UMLS:C1839279 HP:0009747 Lumbosacral hirsutism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009747 UMLS:C1851095 Abnormally increased hair growth in the lumbosacral region. HP:0009742 Stiff shoulders biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009742 UMLS:C0241042|SNOMEDCT_US:249918006 Stiff shoulders Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity. HP:0009741 Nephrosclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009741 SNOMEDCT_US:32916005|MSH:D009400|UMLS:C0027719 Thickening of kidney artiries|Scarring of kidney arteries Nephrosclerosis refers to thickening or scarring ("sclerosis") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries. HP:0008410 Subungual hyperkeratotic fragments biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008410 UMLS:C1852311 HP:0009744 Abnormal spinal dura mater morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009744 UMLS:C4024214 Abnormality of the spinal dura mater An abnormality of the spinal dura mater, which is the outermost of the three layers of the meninges surrounding the spinal cord. HP:0009743 Distichiasis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009743 SNOMEDCT_US:95339000|UMLS:C0423848 Distichiasis of eyelid eyelashes Double rows of eyelashes. HP:0009740 Aplasia of the parotid gland biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009740 UMLS:C4020779|UMLS:C1400252|UMLS:C4024215 Abnormally small parotid gland|Hypoplasia of parotid gland|Underdevelopment of parotid gland|Absence of the parotid gland Absence of the parotid gland. HP:0010731 Extension of eyebrows towards upper eyelid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010731 UMLS:C4023717 Extension of eyebrows towards upper eyelid The eyebrows extend towards - or even all the way down to - the margin of the upper eyelid. HP:0010730 Double eyebrow biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010730 UMLS:C0431449|SNOMEDCT_US:253209004 Duplication of eyebrow|Double eyebrow This may present as a partial or complete duplication of the eyebrows. HP:0010739 Osteopoikilosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010739 MSH:D010023|UMLS:C0029455|SNOMEDCT_US:9147009 Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake. HP:0010736 Monostotic fibrous dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010736 MSH:D005358|UMLS:C0016064|SNOMEDCT_US:89859004 Fibrous dysplasia of the bones were lesions are localized in only one bone. HP:0010735 Polyostotic fibrous dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010735 SNOMEDCT_US:36517007|UMLS:C0016065|MSH:D005359 Fibrous dysplasia of the bones were lesions are localized in many bones throughout of the body. Polyostotic fibrous dysplasia is a cardinal feature of McCune-Albright syndrome. HP:0009757 Intercrural pterygium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009757 UMLS:C3810471 A pterygium (or pterygia) in the intercrural (groin) region. HP:0009756 Popliteal pterygium biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009756 UMLS:C3805420 A pterygium (or pterygia) occurring in the popliteal region (the back of the knee). HP:0010734 Fibrous dysplasia of the bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010734 UMLS:C0016063|MSH:D005357|SNOMEDCT_US:10623005 Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia). HP:0008425 Cuboid-shaped thoracolumbar vertebral bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008425 UMLS:C1855289 HP:0010733 Naevus flammeus of the eyelid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010733 UMLS:C1854409 Port-wine stain on eyelid Naevus flammeus localised in the skin of the eyelid. HP:0008428 Vertebral clefting biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008428 UMLS:C1855828 Vertebral clefts Schisis (cleft or cleavage) of vertebral bodies. HP:0009759 Neck pterygia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009759 UMLS:C1849577 Neck pterygium Pterygia affecting the neck. HP:0010732 Nodular changes affecting the eyelids biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010732 UMLS:C4023716 Eyelid nodules Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more. HP:0009758 Pyramidal skinfold extending from the base to the top of the nails biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009758 UMLS:C4024212 Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome. HP:0008422 Vertebral wedging biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008422 UMLS:C1695776 anterior wedging|Wedged vertebrae|Wedge-shaped vertebrae 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. HP:0009752 Cleft in skull base biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009752 UMLS:C1856027 Cleft in skull base|Cleft in cranial base A bony defect in the skull base. HP:0008421 Tall lumbar vertebral bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008421 UMLS:C1863313 HP:0009755 Ankyloblepharon biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009755 SNOMEDCT_US:400952003|UMLS:C0339182|SNOMEDCT_US:193953008|MSH:C536373|UMLS:C1302999 Eyelid synechiae|Ankyloblepharon filiforme adnatum|Eyelids stuck together|Adhesion of eyelids Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue. HP:0008424 Hypoplastic 5th lumbar vertebrae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008424 UMLS:C1859366 Underdeveloped 5th lumbar vertebrae HP:0008423 Spinal dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008423 UMLS:C4021853 The presence of developmental dysplasia of the vertebral column. HP:0009754 Fibrous syngnathia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009754 UMLS:C4021392 Alveolar synechiae|Fusion of the alveolar ridges Complete or nearly complete soft tissue fusion of the alveolar ridges. HP:0009751 Aplasia of the pectoralis major muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009751 UMLS:C4024213 Absent pectoralis major muscle Absence of the pectoralis major muscle. HP:0008420 Punctate vertebral calcifications biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008420 UMLS:C4024678 The presence of punctiform calcification of the bone of the vertebral bodies. HP:0032071 Eosinophilic pneumonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032071 Pulmonary eosinophilic infiltrate|Pulmonary eosinophilic infiltration|Pulmonary eosinophilia|Eosinophilic pulmonary infiltration The presence of eosinophils in lung tissue, generally as detected by tissue biopsy, with or without blood eosinophilia. OBO:hp#is_observable_through is_observable_through biolink:OntologyClass hp http://purl.obolibrary.org/obo/hp#is_observable_through HP:0032072 Popliteal synovial cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032072 Baker's cyst A fluid-filled mass that is a distention of a preexisting bursa in the popliteal fossa, most commonly the gastrocnemio-semimembranosus bursa. This bursa is unique in that it communicates with the knee joint, unlike other periarticular bursae, via an opening in the joint capsule posterior to the medial femoral condyle. HP:0032073 Aplasia of the fallopian tube biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032073 Aplasia, that is failure to develop, of the fallopian tube. HP:0032070 Leptomeningeal enhancement biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032070 Contrast material enhancement of the pia mater or enhancement that extends into the subarachnoid spaces of the sulci and cisterns is leptomeningeal enhancement. Leptomeningeal enhancement is usually associated with meningitis, which may be bacterial, viral, or fungal. The primary mechanism of this enhancement is breakdown of the blood-brain barrier without angiogenesis. HP:0032079 Medial degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032079 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. HP:0032075 Splenopancreatic fusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032075 Fusion of the pancreatic tail and spleen. HP:0032076 Abnormal male urethral meatus morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032076 HP:0032077 Male urethral meatus stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032077 Meatus stenosis|Meatal stenosis An abnormal narrowing of the urethral opening (meatus) of the penis. HP:0032078 Angel-shaped phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032078 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). HP:0020082 Heinz bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020082 A type of erythrocyte inclusion composed of denatured hemoglobin. HP:0020081 Pappenheimer bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020081 A type of erythrocyte inclusion characterized by basophilic stippling of erythrocytes, that is, by numerous very small coarse or fine blue granules within the cytoplasm with the additional stipulation that the stippled particles are due to iron granules (demonstrable by the Prussian blue stain). HP:0020084 Carbuncle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020084 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. HP:0020083 Furuncle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020083 Boil An infection of a hair follicle that extends subcutaneously, forming an abscess. HP:0020080 Erythrocyte inclusion bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020080 Nuclear or cytoplasmic aggregates of substances in red blood cells. HP:0020089 Post-vaccination rubella biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020089 Infection with the rubella virus of the live-attenuated vaccine. HP:0020086 BCGitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020086 Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination. HP:0020085 Infection following live vaccination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020085 An infection resulting from live attenuated vaccines (LAV), that is, a vaccine prepared from living viruses or bacteria that have been weakened under laboratory conditions. LAV vaccines will replicate in a vaccinated individual and produce an immune response but usually cause mild or no disease. are derived from disease-causing pathogens. HP:0020088 Post-vaccination measles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020088 Vaccine associated measles Infection with the measles virus of the live-attenuated vaccine. This is an extremely rare event and may indicate immunocompromise in some cases. HP:0020087 BCGosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020087 BCGiosis|Disseminated Bacillus Calmette-Guerin infection Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis. HP:0032082 Translamellar mucoid extracellular matrix accumulation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032082 A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix alters the arrangement of the lamellar units to varying degrees. HP:0032083 Aortic elastic fiber fragmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032083 Aortic elastic fibre fragmentation Loss and/or fragmentation of elastic fibers of the media of the aorta creating increasingly extended translamellar spaces, with absence of elastic fibers, and increased gaps in elastic fiber lamellae as identified on a stain for elastic fibers. HP:0032084 Aortic elastic fiber thinning biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032084 Aortic elastic fibre thinning A thinning out of elastic fibers of the media of the aorta that creates widening of intralamellar spaces, as identified on a stain for elastic fibers. HP:0032085 Aortic elastic fiber disorganization biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032085 Aortic elastic fibre disorganisation Nonparallel arrangement/disarray of elastic fibers of the media of the aorta as identified on a stain for elastic fibers. HP:0430009 Hypoplasia of eyelid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0430009 UMLS:C0344499|UMLS:C4280274|SNOMEDCT_US:204203001 Small eyelid|Short eyelid|Underdevelopment of eyelid|Decreased size of eyelid Developmental hypoplasia of the eyelid. HP:0032081 Intralamellar mucoid extracellular matrix accumulation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032081 A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix does not significantly alter the arrangement of the lamellar units. HP:0430008 Accessory eyelid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0430008 UMLS:C4280275|UMLS:C0266576|SNOMEDCT_US:24606006 Double eyelid|Extra eyelid The presence of more than the normal number of eyelids. HP:0032086 Aortic smooth muscle cell nuclei loss biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032086 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. HP:0032087 Aortic laminar medial collapse biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032087 Architecturally, a compaction of aortic medial elastic fibers that creates thinning of the lamellar unit secondary to a band-like smooth muscle cell loss identified using a stain for elastic fibers. HP:0032088 Aortic smooth muscle cell disorganization biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032088 Aortic smooth muscle cell disorganisation Nonparallel arrangement/disarray of smooth muscle cells of the aortic media creating focal/multifocal disarray or sometimes nodular aggregates of smooth muscle cells. HP:0032089 Aortic medial fibrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032089 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). HP:0020071 Viremia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020071 The presence of virus in the blood. HP:0020073 Hypopigmented macule biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020073 A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation. HP:0020072 Persistent EBV viremia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020072 Persistent presence of Epstein-Barr virus in the blood. HP:0430007 Symblepharon biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0430007 UMLS:C0152454|SNOMEDCT_US:90216006 Eyelid stuck to eyeball|Eyelid adhesion to globe of eye A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball. HP:0020079 Beta-alaninuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020079 An increased level of beta-alanine in the urine. HP:0430006 Ectopic cilia of eyelid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0430006 SNOMEDCT_US:95504004|UMLS:C0521574 An eyelash that emerges from the underside (conjunctiva) of the upper or lower eyelid. HP:0020078 Alaninuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020078 Increased urinary alanine An increased level of alanine in the urine. HP:0430005 Abnormality of ethmoid bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0430005 UMLS:C4021869 Malformation of the ethmoid bone|Deformity of the ethmoid bone|Anomaly of the ethmoid bone An abnormality of the ethmoid bone HP:0430004 Frontomalar faciosynostosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0430004 UMLS:C4021870 HP:0020075 Leucine crystalluria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020075 The presence of leuucine crystals in the urine. HP:0430003 Abnormality of the palatine bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0430003 UMLS:C4021871 Malformation of the palatine bone|Deformity of the palatine bone|Anomaly of the palatine bone An abnormality of the palatine bone. HP:0430002 Abnormality of the lacrimal bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0430002 UMLS:C4021872 Deformity of the lacrimal bone|Malformation of the lacrimal bone|Anomaly of the lacrimal bone An abnormality of the lacrimal bone. HP:0020074 Crystalluria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020074 The presence of crystals in the urine. HP:0020077 Carnitinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020077 An elevated level of carnitine in the urine. HP:0430000 Abnormality of the frontal bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0430000 UMLS:C4021873 Abnormal morphology of frontal bone|Anomaly of the frontal bone|Abnormality of the bone of the forehead|Malformation of the frontal bone|Deformity of the frontal bone An abnormality of the frontal bone. HP:0020076 Wrist ganglion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020076 Ganglion cyst of the wrist A benign soft tissue tumor of the wrist usually found in the dorsal aspect of the wrist and communicate with the joint via a pedicle. This pedicle usually originates not only at the scapholunate ligament, but also may arise from a number of other sites over the dorsal aspect of the wrist capsule. HP:0032094 Increased circulating surfactant protein level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032094 Increased serum surfactant protein level An increased concentration of a surfactant protein in the blood circulation. Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions. These two proteins are detectable in the bloodstream and an elevated level may reflect idiopathic pulmonary fibrosis. HP:0007095 Frontoparietal polymicrogyria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007095 UMLS:C3279674 An excessive number of small gyri (convolutions) on the surface of the brain in the frontoparietal region. HP:0032096 Abnormal manganese concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032096 A deviation from the normal range of manganese in the blood circulation. HP:0007096 Hypoplasia of the optic tract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007096 UMLS:C1856654 Underdeveloped optic tract HP:0032090 Intralamellar aortic medial fibrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032090 A type of aortic medial fibrosis in which the increase in collagen does not significantly alter the arrangement of the lamellar units. HP:0032091 Translamellar aortic medial fibrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032091 A type of aortic medial fibrosis in which the increase in collagen is more scar-like, altering the arrangement of the lamellar units. HP:0032092 Left ventricular outflow tract obstruction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032092 Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle. HP:0032097 Hypermanganesemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032097 Increased blood manganese concentration An elevation above the normal concentration of manganese in the blood. HP:0032098 Hypomanganesemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032098 A reduction below the normal concentration of manganese in the blood. HP:0032099 Perioral radial furrowing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032099 The presence of radial grooves in the skin surrounding the mouth (see Figure 4 of PMID:27833976). HP:0020060 Decreased red blood cell count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020060 Decreased RBC count An abnormal reduction below the normal number of red blood cells per volume in the circulation. HP:0020062 Decreased hemoglobin concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020062 Decreased haemoglobin concentration|Decreased Hb concentration An abnormal reduction below normal hemoglobin concentration in the circulation. HP:0020061 Abnormal hemoglobin concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020061 Abnormal Hb concentration|Abnormal haemoglobin concentration Any deviation from the normal concentration of hemoglobin in the blood. HP:0020064 Abnormal eosinophil count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020064 Any deviation from the normal number of eosinophils per volume in the blood circulation. HP:0007086 Social and occupational deterioration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007086 UMLS:C1866986 HP:0020063 Increased hemoglobin concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020063 Increased Hb concentration|Increased haemoglobin concentration An abnormal elevation above normal hemoglobin concentration in the circulation. HP:0007087 obsolete Involuntary jerking movements biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007087 HP:0007089 Facial-lingual fasciculations biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007089 UMLS:C1862359 Fasciculations affecting the tongue muscle and the musculature of the face. HP:0020050 Anti-granulocyte-macrophage colony stimulating factor antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020050 Anti-GM-CSF antibody positivity The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor. HP:0020059 Increased red blood cell count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020059 Increased RBC count An abnormal elevation above the normal number of red blood cells per volume in the circulation. HP:0020058 Abnormal red blood cell count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020058 Abnormal RBC count Any deviation from the normal number of red blood cells per volume in the circulation. HP:0007097 Cranial nerve motor loss biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007097 UMLS:C4024940 HP:0007098 Paroxysmal choreoathetosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007098 UMLS:C1851936|SNOMEDCT_US:49949003 Choreoathetosis, episodic|Choreoathetosis, intermittent Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements. HP:0007099 Arnold-Chiari type I malformation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007099 UMLS:C0750929|MSH:D001139|SNOMEDCT_US:253185002 Chiari I malformation|Arnold Chiari type I malformation Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. HP:0020054 Abnormal erythrocyte physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020054 Any functional abnormality of erythrocytes (red-blood cells). HP:0033361 Nasal ulcer biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033361 An open sore of the nasal mucosa. HP:0032030 Lateral canthal tendon laxity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032030 Laxity of the tendon stabilising the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed. HP:0033360 Impaired ability to shift attention biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033360 Impaired task shifting A behavioral abnormality whereby a person is unable to move freely from one situation, activity or aspect of aa problem to another as circumstances demand. Key aspects of shifting include the ability to make transitions, problem solve flexibly, switch or alternate attention, and change focus from one mind-set or topic to another. Mild deficits in the ability to shift compromise the efficiency of problem solving, whereas more severe difficulties are reflected in perseverative behaviors. Sometimes this is described as being rigid or inflexible. HP:0033367 Orthodeoxia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033367 Low level of blood oxygen induced by changing from a recumbent to an upright position. HP:0032035 Lower eyelid laxity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032035 Abnormally lax lower eyelid associated with tissue relaxation. HP:0033366 Exogenous lipoid pneumonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033366 A type of lipoid pneumonia in which the source of the lipids is external to the body. HP:0032036 Abnormal contrast sensitivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032036 An abnormality in perception of contrast. Spatial contrast is a physical dimension referring to the light-dark transition of a border or an edge in an image that delineates the existence of a pattern or an object. Contrast sensitivity refers to a measure of how much contrast a person requires to see a target. Contrast-sensitivity measurements differ from acuity measurements; acuity is a measure of the spatial-resolving ability of the visual system under conditions of very high contrast, whereas contrast sensitivity is a measure of the threshold contrast for seeing a target. HP:0033369 Cavitating leukodystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033369 A type of leukodystrophy characterized by multiple small cavitations typically in the periventricular and deep cerebral white matter. The cavitations are visible as a central cavity with cerebrospinal fluid-like signal intensity. HP:0032037 Mildly reduced visual acuity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032037 Mild visual loss|Mild vision loss|Mild reduction in visual acuity Mild reduction of the ability to see defined as visual acuity less than 6/12 (20/40 in US notation; 0.5 in decimal notation) but at least 6/18 (20/63 in US notation; 0.32 in decimal notation). HP:0033368 Platypnea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033368 A type of dyspnea that occurs when the affected person changes from a recumbent to an upright position. HP:0033363 Hyaline membranes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033363 Hyaline membranes are homogeneous eosinophilic material composed of cellular debris, plasma proteins, and surfactant plastered against alveolar ducts and alveolar walls. The hyaline membranes are deposited along the walls of the alveoli, where gas exchange typically occurs, thereby making gas exchange difficult. HP:0032031 Medial canthal tendon laxity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032031 Laxity of the tendon stabilising the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally. HP:0033362 Recurrent coughing spasms biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033362 Repeated occurrence of episodes of coughing, with each episode consisting of at least five minutes of continuous coughing. HP:0032032 Horizontal eyelid laxity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032032 Abnormally lax eyelid associated with tissue relaxation, predominantly in the horizontal plane. It can be demonstrated by the horizontal eyelid distraction test (e.g. by pulling the eyelid medially and laterally). Medial and/or lateral canthal tendon laxity are often present. HP:0032033 Vertical eyelid laxity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032033 Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilising structures (e.g. lower lid retractors) or tarsal atrophy are often present. HP:0033365 Endogenous lipoid pneumonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033365 A type of lipoid pneumonia in which the source of the lipids is the body itself. When an airway is obstructed, it is often the case that distal to the obstruction, lipid-laden macrophages and giant cells fill the lumen of the disconnected airspace. HP:0032034 Upper eyelid laxity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032034 Abnormally lax upper eyelid associated with tissue relaxation. HP:0033364 Lipoid pneumonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033364 A specific form of lung inflammation that results from accumulation of lipids in the alveoli. Lipoid pneumonia can be either exogenous or endogenous in cause based on the source of the lipid. HP:0032039 Abnormality of the ocular adnexa biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032039 An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. HP:0033370 Bronchial telangiectasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033370 Endobronchial telangiectasia Telangiectasias (small dilated blood vessels located near the surface of the skin or mucous membranes) located in the trachoebronchial system. HP:0032040 Abnormal ocular adnexa physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032040 A functional anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. HP:0033372 Abnormal KCO biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033372 Any deviation from the normal range of KCO. The KCO is a measurement of the rate constant for alveolar uptake of CO during breath-holding in the single breath measurement of DLCO at full inflation. The DLCO is derived as the product of the KCO and the single breath alveolar volume (VA) divided by PB-PH2O. HP:0033371 Bronchocentric granulomatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033371 Granulomatous inflammation that surrounds the bronchi and bronchioles, replacing bronchial walls and mucosa. In bronchocentric granulomatosis, the lumen of the airway contains necrotic debris, and palisaded histiocytes surround the lumen. HP:0032041 Vocal cord polyp biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032041 A small growth on a vocal cord that may appear as pedunculated or sessile and have varying size, shape, and color. HP:0032046 Focal cortical dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032046 A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons. HP:0033378 Increased airway neuroepithelial bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033378 Presence of increased numbers of bombesin-immuno-positive neuroendocrine cell cluster (neuroepithelial bodies) in the alveolar ducts. HP:0032047 Focal cortical dysplasia type I biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032047 A type of focal cortical dysplasia that is characterized by abnormal cortical layering. HP:0033377 Increased airway neuroendocrine cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033377 Presence of increased numbers of bombesin-immuno-positive neuroendocrine cells (NECs) within distal airways. There are no formal criteria for an increase (which is also dependend on the sensitivity of the staining method), findings of neuroendocrine cells in at least 70% of bronchioles by lung biopsy and at least 10% NECs in an individual airway are consistent with the diagnosis of Neuroendocrine cell hyperplasia of infancy in the appropriate clinical setting. Increases are also seen in other clicnial settings. Neuroendocrine neoplasms of the lung encompass NE tumors (NETs), which split into typical and atypical carcinoids, and NE carcinomas (NECs). HP:0032048 Focal cortical dysplasia type Ia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032048 A subtype of focal cortical dysplasia type I that is characterized by abnormal radial cortical lamination. HP:0032049 Focal cortical dysplasia type Ib biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032049 A subtype of focal cortical dysplasia type I that is characterized by abnormal tangential cortical lamination. HP:0033379 Bilateral superior vena cava biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033379 Bilateral SVC The presence of a left and a right superior vena cava. HP:0033374 Decreased KCO biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033374 Decreased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index). HP:0032043 Odynophagia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032043 Painful swallowing Pain experienced with swallowing. HP:0033373 Increased KCO biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033373 Increased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index). HP:0033376 Alveolar septal thickening biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033376 Increased width of the alveolar septum, which is the structure that separates neighboring alveoli. This finding can be appreciated on histology. HP:0032044 Decreased vigilance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032044 A reduction in the ability to maintain sustained attention characterized by reduced alertness. HP:0032045 Hypoplastic carotid canal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032045 Underdevelopment of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse. HP:0033375 Anthracosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033375 Anthracosis is the deposition of black carbon pigment. It is commonly seen in perihilar lymph nodes as well as within lung parenchyma. There can be prominent storiforming (i.e., spiral patterning) of histiocytes, to such an extent as to mimic a neoplastic lesion histologically. Anthracosis is a common finding in smokers and polluted city dwellers. HP:0033381 Elevated circulating stearoylcarnitine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033381 Abnormally increased concentration of O-stearoylcarnitine in the blood circulation. HP:0033380 Nasal chondritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033380 Nose chondritis Inflammation of the cartilage of the nose. HP:0032050 Focal cortical dysplasia type Ic biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032050 A subtype of focal cortical dysplasia type I that is characterized by abnormal radial and tangential cortical lamination. HP:0032051 Focal cortical dysplasia type II biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032051 A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities. HP:0033383 Decreased compound muscle action potential amplitude biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033383 Decreased CMAP 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. HP:0033382 Elevated circulating palmitoylcarnitine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033382 Abnormally increased concentration of palmitoylcarnitine in the blood circulation. HP:0032052 Focal cortical dysplasia type IIa biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032052 A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons, which present with a significantly enlarged cell body and nucleus, malorientation, abnormally distributed intracellular Nissl substance and cytoplasmic accumulation of neurofilament proteins. HP:0430019 Abnormality of muscle of facial expression biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0430019 UMLS:C4073201 Abnormality of muscle of facial expression|Abnormality of musculature 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. HP:0033389 Bronchopulmonary anastomosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033389 Abnormal arterial anastomosis (connection) between bronchial and pulmonary arteries. HP:0032057 Focal cortical dysplasia type IIIc biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032057 A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural (cortical dyslamination, hypoplasia) or cytoarchitectural composition of the neocortex (hypertrophic neurons), which occur adjacent to vascular malformations (cavernomas, arteriovenous malformations, leptomeningeal vascular malformations, telangiectasias, meningioangiomatosis). HP:0032058 Focal cortical dysplasia type IIId biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032058 A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to other lesions acquired during early life (not included into FCD Type IIIa-c). These lesions comprise a large spectrum including traumatic brain injury, glial scarring after prenatal or perinatal ischemic injury or bleeding, and inflammatory or infectious diseases, i.e. Rasmussen encephalitis, limbic encephalitis, bacterial or viral infections. HP:0033388 Abnormal bronchial artery morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033388 Any structural abnormality of a bronchial artery. HP:0032059 Mild malformation of cortical development biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032059 A malformation of cortical development characterized by mild abnormalities of the cortex: excessive heterotopic neurons in Layer 1 or microscopic neuronal clusters or excess of single neurons of normal morphology in deep white matter. HP:0033385 Elevated urine pyridinoline level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033385 Elevated urine hydroxylysyl-pyridinoline level An increased amount of pyridinoline in the urine. HP:0032053 Focal cortical dysplasia type IIb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032053 A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons (significantly enlarged with accumulation of neurofilament proteins) and balloon cells. HP:0032054 Focal cortical dysplasia type III biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032054 A type of focal cortical dysplasia that is characterized by cortical lamination abnormalities associated with a principal lesion, usually adjacent to or affecting the same cortical area/lobe. HP:0033384 Elevated urinary collagen degradation products biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033384 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. HP:0033387 Elevated circulating pyridinoline concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033387 An increased concentration of hydroxylysyl-pyridinoline (pyridinoline) in the blood circulation. HP:0032055 Focal cortical dysplasia type IIIa biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032055 A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (HS, syn. Ammon's horn sclerosis). HP:0032056 Focal cortical dysplasia type IIIb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032056 A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) and/or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to glial or glioneuronal tumor. HP:0033386 Abnormal circulating collagen degradation product concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033386 Abnormal concentration in the blood circulation of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease. HP:0430010 Microblepharia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0430010 SNOMEDCT_US:94684003|UMLS:C0685873 Abnormally small eyelid Abnormal shortness of the vertical dimensions of the eyelids. HP:0430018 Abnormality of nasal musculature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0430018 UMLS:C4073200 Abnormality of nasal musculature|Abnormality of musculature of the nose|Abnormality of muscle of nose An abnormality of the muscles of the structure of the nose. HP:0430017 Abnormality of uvular muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0430017 UMLS:C4073199 Abnormality of musculus uvulae An abnormality of the uvular muscle HP:0430016 Abnormality of tensor veli palatini muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0430016 UMLS:C4073198 An abnormality of the tensor veli palatini muscle HP:0430015 Abnormal morphology of musculature of pharynx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0430015 UMLS:C4073197 Abnormality of pharyngeal musculature|Abnormality of muscles of the pharynx|Abnormality of musculature of pharynx|Abnormality of pharynx musculature An abnormality of any of the muscles of the pharynx. HP:0430014 Abnormality of musculature of soft palate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0430014 UMLS:C4073196 Abnormality of soft palate muscles An abnormality of one or more of the five muscles of the soft palate. HP:0430013 Absent palatine bone ossification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0430013 UMLS:C4021867 Absence of palatine bone formation|Absence of palatine bone mineralization|Absence of palatine bone calcification Lack of formation of the palatine bone. HP:0430012 Incomplete ossification of palatine bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0430012 SNOMEDCT_US:93595006|UMLS:C0685213 Incomplete formation of palatine bone|Incomplete calcification of palatine bone|Incomplete mineralization of palatine bone Failure to complete ossification (maturation and calcification) of the palatine bone. HP:0430011 Defect of palpebral conjunctiva biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0430011 UMLS:C4021868 An abnormality of the palpebral conjunctiva. HP:0033392 Perivascular pre-capillary pulmonary artery inflammation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033392 Perivascular inflammation of arterioles in the pulmonary circulation|Perivascular inflammation of pre-capillary pulmonary arteries Inflammatory cell infiltration surrounding precapillary pulmonary arteries (arterioles; 20-70 micrometer). HP:0032060 Epithelioid hemangioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032060 Angiolymphoid hyperplasia with eosinophilia A benign neoplasm that includes blood vessel proliferation and a dense eosinophilic inflammatory infiltrate, manifesting as flesh/plum-colored pruritic nodules and papules, most commonly affecting the ear and the periauricular area. HP:0033391 Bronchial artery hypertrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033391 Increase in the volume of bronchial artery wall due to the enlargement of its component cells. HP:0032061 Hypereosinophilia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032061 A severely increased count of eosinophils in the blood defined as a blood eosinophil count of 1.5 × 10e9/L or greater (one and a half billion cells per liter). HP:0033394 Anti-carbonic anhydrase II antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033394 The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase II. HP:0032062 Mallory-Weiss tear biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032062 Vomiting-induced mucosal laceration at the esophago-gastric junction. HP:0033393 Irregularly shaped sperm tail biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033393 Sperm flagella with irregular caliber Irregular or changing caliber (diameter) along the tail of the sperm. HP:0032063 Ankle joint effusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032063 Abnormal accumulation of fluid in or around the ankle joint. HP:0033390 Bronchial artery dilatation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033390 Bronchial artery enlargement|Dilatation of a bronchial artery Increased caliber of a bronchial artery, which can be defined as a bronchial artery diameter that exceeds 2 mm. HP:0032068 Increased urinary mucus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032068 An increased amount of urinary mucus. A small amount of mucus is produced by mucous membrane epithelial cells of the urinary tract. An increased amount of mucus can be detected upon urinalysis or other assays and may indicate conditions such as urinary tract infection, urinary tract reconstruction involving the use of bowel segments, or contamination of the urine sample prior to urinalysis. HP:0032069 Anti-thyroglobulin antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032069 The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin. HP:0033399 Persistent fever biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033399 Fever that persists longer than expected for an acute infectious disease. No precise threshold exists, and the clinical interpretation of fever is context-dependent, but as a rule of thumb, this term refers to fever that persists longer than 2-3 weeks. HP:0033396 Glomerular extracapillary fibrin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033396 Presence of ropey, eosinophilic material (brght red on Trichrome staining) consistent with extracapillary fibrin outside of capillary lumina. HP:0032064 Gastrointestinal eosinophilia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032064 Eosinophilic gastrointestinal disease|GI eosinophilia|Eosinophilic enteritis|Eosinophilic gastroenteritis|Eosinophilic gastrointestinal disorders 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. HP:0032065 Abnormal serum bicarbonate concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032065 Abnormal serum HCO3 concentration Any deviation from the normal concentration of bicarbonate, HCO3[-], in the circulation. HP:0033395 Antilactoferrin antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033395 The presence of autoantibodies (immunoglobulins) in the serum that react against lactoferrin. HP:0033398 Pleural plaque biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033398 Deposits of hyalinized collagen fibres in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs). HP:0032066 Decreased serum bicarbonate concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032066 Decreased serum HCO3 concentration An abnormal reduction of the concentration of bicarbonate, HCO3[-], in the circulation. HP:0032067 Elevated serum bicarbonate concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032067 Elevated serum HCO3 concentration An abnormal increase in the concentration of bicarbonate, HCO3[-], in the circulation. HP:0033397 Bowman-space proteinaceous debris biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0033397 The presence of eosinophilic Periodic Acid Schiff (PAS)-positive cell free, protein-derived material occupying Bowman's space. HP:0430021 Abnormal common carotid artery morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0430021 UMLS:C4073203 Abnormality of the common carotid artery 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. HP:0020093 Recurrent deep organ abscess formation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020093 Repeated episodes of the formation of abscesses in organs. An abscess is a circumscribed area of pus or necrotic debris in the parenchyma or an organ. HP:0430020 Abnormality of levator labii superioris alaeque nasi muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0430020 UMLS:C4073202 An abnormality of the levator labii superioris alaeque nasi muscle. HP:0020095 Prolonged need of intravenous antibiotic therapy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020095 Clinical assessment of a requirement to treat with intravenous antibiotics over an unusually prolonged period of time. HP:0020091 Post-vaccination rotavirus infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020091 Infection with live attenuated rotavirus vaccine following vaccination. HP:0020090 Post-vaccination polio biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020090 Infection with live attenuated polio vaccine following vaccination. This is an extreemely rare event that may indicate immunocompromise. HP:0430029 Hyperplasia of the premaxilla biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0430029 UMLS:C4073210 Hyperplasia of the primary palate bone|Increased size of premaxilla|Large premaxilla|Large primary palate bone|Primary palate bone excess|Increased size of the primary palate bone|Premaxillary excess|Hyperplasia of the intermaxillary bone An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively large in size compared to the other parts of the maxilla or other facial structures. HP:0430028 Hyperplasia of the maxilla biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0430028 SNOMEDCT_US:28070007|UMLS:C2227090|UMLS:C4280273|UMLS:C4073209|UMLS:C4280272|UMLS:C0266081 Maxillary prognathia|Maxillary excess|Big maxilla|Prominent upper jaw|Prominent maxilla|Maxillary prominence|Hypertrophy of upper jaw|Upper jaw excess|Maxillary hyperplasia|Increased projection of upper jaw|Big upper jaw|Increased size of upper jaw|Increased projection of maxilla|Increased size of maxilla|Prognathia of the upper jaw|Hyperplasia of upper jaw|Hypertrophy of maxilla|Large maxilla|Maxillary macrognathia|Large upper jaw|Upper jaw bone excess 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. HP:0430026 Abnormality of the shape of the midface biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0430026 UMLS:C4073208 Dysmorphic midface|Abnormal morphology of the midface|Abnormality of the shape of the midface An abnormal morphology (form) of the midface or its components, the cheeks, maxilla, zygomatic bone, malar region, and infraorbital rims. HP:0430025 Bilateral facial palsy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0430025 UMLS:C4073207 Bilateral facial paralysis|Paralysis of both sides of the face|Weakness of both sides of the face|Bilateral facial muscle weakness|Bilateral facial muscle paralysis Two-sided or bilateral weakness of the muscles of facial expression and eye closure. HP:0020097 Infection due to encapsulated bacteria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020097 An infection by an encapsulated bacterial agent. Isolates which cause invasive disease are usually surrounded by a polysaccharide capsule, which is a major virulence factor and the key antigen in protective protein-polysaccharide conjugate vaccines. HP:0020096 Recurrent streptococcal infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020096 Increased susceptibility to streptococcal infections, as manifested by recurrent episodes of streptococcal infections. HP:0430024 Abnormality of external jugular vein biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0430024 UMLS:C4073206 An abnormality of an external jugular vein of the neck. HP:0430023 Abnormality of the maxillary sinus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0430023 UMLS:C4073205 Abnormality of the upper jaw sinus|Abnormality of the antrum of Highmore|Abnormality of the maxillary antrum An abnormality of the maxillary sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The maxillary sinus is located within the skeleton of the midface, lateral to the nasal cavity. HP:0020099 Severe norovirus infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020099 An unusually severe course of infection with Human norovirus, previously known as Norwalk virus. Norovirus, an RNA virus of the family Caliciviridae, is a human enteric pathogen. Norovirus infection-associated illness may also be more prolonged and severe in immunocompromised individuals and may be associated with remarkably persistent viral excretion in some of these individuals. HP:0020098 Herpes encephalitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0020098 Infection of the brain parenchyma with herpes simplex virus, resulting in inflammation of the brain parenchyma with neurologic dysfunction. HP:0430022 Abnormality of the sphenoid sinus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0430022 UMLS:C4073204 Abnormality of the sphenoidal sinus An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone. HP:0002814 Abnormality of the lower limb biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002814 UMLS:C1096086|SNOMEDCT_US:449715001 Abnormality of the lower limb|Abnormality of the leg|Lower limb deformities An abnormality of the leg. HP:0002815 Abnormality of the knee biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002815 UMLS:C4025676 Abnormality of the knee An abnormality of the knee joint or surrounding structures. HP:0002812 Coxa vara biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002812 UMLS:C0239138|MSH:D060905|SNOMEDCT_US:74820003 Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees. HP:0002813 Abnormality of limb bone morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002813 UMLS:C4082761 Arm and/or leg bone differences|Abnormal shape of limb bone|Limb abnormality Any abnormality of bones of the arms or legs. HP:0002818 Abnormality of the radius biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002818 UMLS:C4025675 An abnormality of the radius. HP:0002816 Genu recurvatum biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002816 MEDDRA:10018194|UMLS:C0546964 Genu recurvata|Back knee|Knee hyperextension An abnormally increased extension of the knee joint, so that the knee can bend backwards. HP:0002817 Abnormality of the upper limb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002817 UMLS:C4020900 Abnormality of the arm|Abnormality of the upper limb An abnormality of the arm. HP:0002810 Dumbbell-shaped metaphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002810 UMLS:C3277123 Dumbbell shaped metaphyses|Dumbbell shaped wide portion of long bone|Dumbbell shaped metaphysis HP:0002825 Caudal appendage biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002825 UMLS:C3277117 Human tail|Coccygeal tail The presence of a tail-like skin appendage located adjacent to the sacrum. HP:0002826 Halberd-shaped pelvis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002826 UMLS:C3277119 Halberd-shaped pelvis bone An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle). HP:0002823 Abnormality of femur morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002823 UMLS:C4021750 Abnormality of the femora|Abnormality of the thighbone Any anomaly of the structure of the femur. HP:0002829 Arthralgia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002829 MSH:D018771|SNOMEDCT_US:57676002|UMLS:C0003862 Joint pain|Arthralgias|Joint pains|Arthritic pain Joint pain. HP:0002827 Hip dislocation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002827 UMLS:C0019554|SNOMEDCT_US:157265008|MSH:D006617 Dislocation of hip|Hip dislocation|Dislocated hips Displacement of the femur from its normal location in the hip joint. HP:0002828 Multiple joint contractures biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002828 UMLS:C0158118|SNOMEDCT_US:202264009|SNOMEDCT_US:19393004 HP:0002821 Neuropathic arthropathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002821 SNOMEDCT_US:359554008|MSH:D001177|SNOMEDCT_US:67536000|UMLS:C0003892 Charcot arthropathy|Charcot joint HP:0002822 Hyperplasia of the femoral trochanters biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002822 UMLS:C3277120 Hyperplastic femoral trochanters HP:0002803 Congenital contracture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002803 UMLS:C0332878 Congenital joint contractures|congenital contractures One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth. HP:0002804 Arthrogryposis multiplex congenita biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002804 SNOMEDCT_US:77016009|SNOMEDCT_US:111246005|UMLS:C0003886|MSH:D001176 Arthrogryposis multiplex|Arthrogryposis|Arthrogryposis, congenital|Multiple congenital contractures Multiple congenital contractures in different body areas. HP:0002808 Kyphosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002808 SNOMEDCT_US:414564002|UMLS:C0022821|UMLS:C1845112|MSH:D007738 Gibbus deformity|Hunched back|Hyperkyphosis|Round back Exaggerated anterior convexity of the thoracic vertebral column. HP:0002805 Accelerated bone age after puberty biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002805 UMLS:C1860825 Accelerated bone age after puberty HP:0002858 Meningioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002858 UMLS:C0025286|NCIT:C3230|MSH:D008579 Noncancerous growth of membranes covering brain The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater. HP:0002859 Rhabdomyosarcoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002859 SNOMEDCT_US:302847003|UMLS:C0035412|SNOMEDCT_US:30924005|MSH:D012208|NCIT:C3359 HP:0001528 Hemihypertrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001528 UMLS:C0332890|SNOMEDCT_US:56007004|SNOMEDCT_US:205838004 Asymmetric overgrowth|Asymmetric limb hypertrophy Overgrowth of only one side of the body. HP:0001525 Severe failure to thrive biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001525 UMLS:C1855514 Severe weight faltering|Severe faltering weight|Severe postnatal failure to thrive|Marked failure to thrive HP:0002857 Genu valgum biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002857 MEDDRA:10023480|MSH:D056304|UMLS:C0576093|SNOMEDCT_US:299330008 Genua valga|Genu valgus|Knock knees|Genu valga|Knee joint valgus deformity The legs angle inward, such that the knees are close together and the ankles far apart. HP:0002850 Decreased circulating total IgM biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002850 UMLS:C0239989 IgM deficiency|Reduced IgM levels|Decreased IgM|Decreased IgM level An abnormally decreased level of immunoglobulin M (IgM) in blood. HP:0001520 Large for gestational age biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001520 UMLS:C1848395 Macrosomia, neonatal|Fetal macrosomia|Birthweight > 90th percentile|Macrosomia|Birth weight > 90th percentile The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age. HP:0002851 Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002851 UMLS:C1858973 Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors An abnormally increased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells. HP:0002853 Increased proportion of HLA DR+ T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002853 UMLS:C1858974 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. HP:0001522 Death in infancy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001522 UMLS:C1844947|UMLS:C1858430 Death in early childhood|Infantile death|Lethal in infancy|Death in infancy Death within the first 24 months of life. HP:0001538 Protuberant abdomen biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001538 UMLS:C1854928 Abdominal protuberance|Belly sticks out|Extended belly A thrusting or bulging out of the abdomen. HP:0000206 Glossitis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000206 MSH:D005928|SNOMEDCT_US:45534005|UMLS:C0017675 Inflammation of the tongue|Lingual inflammation|Smooth swollen tongue Inflammation of the tongue. HP:0002869 Flared iliac wings biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002869 UMLS:C1865841 Flared iliac wing Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing. HP:0001539 Omphalocele biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001539 MSH:D006554|UMLS:C0795690|MEDDRA:10030309|SNOMEDCT_US:18735004|Fyler:4404 Omphalocoele A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord. HP:0000205 Pursed lips biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000205 UMLS:C1832130 Tightly closed lips|Pursed lips An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance. HP:0002867 Abnormality of the ilium biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002867 UMLS:C4021746 Iliac abnormalities An abnormality of the ilium, the largest and uppermost bone of the pelvis. HP:0002868 Narrow iliac wings biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002868 UMLS:C1836688 Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally). HP:0000207 Triangular mouth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000207 UMLS:C1849341 Triangular shaped mouth|Triangular shaped oral aperture|Triangular mouth The presence of a triangular form of the mouth. HP:0001537 Umbilical hernia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001537 Fyler:4445|SNOMEDCT_US:396347007|UMLS:C0019322 Umbilical hernias Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. HP:0002861 Melanoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002861 UMLS:C0025202|SNOMEDCT_US:372244006|MSH:D008545|SNOMEDCT_US:2092003|NCIT:C3224 Malignant melanoma|Skin cancer (melanoma)|Cancer of skin pigment cells The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea). HP:0001530 Mild postnatal growth retardation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001530 UMLS:C3550204|UMLS:C1835580 Mild growth deficiency|Postnatal onset of mild growth retardation A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms. HP:0002862 Bladder carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002862 NCIT:C2916|SNOMEDCT_US:255108000|UMLS:C0699885 The presence of a carcinoma of the urinary bladder. HP:0001531 Failure to thrive in infancy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001531 UMLS:C1867873 Failure to thrive in first year of life|Weight faltering in infancy|Faltering weight in infancy HP:0000200 Short lingual frenulum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000200 SNOMEDCT_US:249388005|UMLS:C0426501|UMLS:C4280673 Hypoplasia of tongue frenulum|Hypoplasia of lingual frenulum|Short tongue frenulum|Short tongue frenum|Deficiency of lingual frenulum|Tight lingual frenulum|Short lingual frenum|Hypoplasia of lingual frenum|Hypoplasia of tongue frenum The presence of an abnormally short lingual frenulum. HP:0002860 Squamous cell carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002860 SNOMEDCT_US:28899001|NCIT:C2929|MSH:D002294|UMLS:C0751688|SNOMEDCT_US:402815007|MSH:D018307|UMLS:C0007137 Squamous cell cancer The presence of squamous cell carcinoma of the skin. HP:0002865 Medullary thyroid carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002865 MSH:C536914|SNOMEDCT_US:128916007|SNOMEDCT_US:255032005|UMLS:C0238462|NCIT:C3879 Medullary thyroid cancer The presence of a medullary carcinoma of the thyroid gland. HP:0000202 Oral cleft biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000202 UMLS:C0158646|SNOMEDCT_US:253983005|UMLS:C4021813|SNOMEDCT_US:66948001 Cleft of the mouth|Cleft lip/palate|Cleft lip, cleft palate|Oral clefting The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. HP:0000201 Pierre-Robin sequence biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000201 UMLS:C0031900|SNOMEDCT_US:4602007|MSH:D010855 Pierre-robin deformity|Pierre-robin malformation|Robin sequence|Pierre-robin anomaly|Pierre Robin sequence Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate. HP:0002866 Hypoplastic iliac wing biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002866 UMLS:C1865027 Hypoplastic iliac wings|Small iliac wings|Hypoplastic iliac alae Underdevelopment of the ilium ala. HP:0002863 Myelodysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002863 SNOMEDCT_US:109995007|UMLS:C3463824|UMLS:C1851971|SNOMEDCT_US:128623006|MSH:D009190|SNOMEDCT_US:188736006 Hypoplastic myelodysplasia|Myelodysplastic syndrome Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia. HP:0000204 Cleft upper lip biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000204 UMLS:C0008924|SNOMEDCT_US:80281008|Fyler:4875|MSH:D002971 Cheiloschisis of upper lip|Cleft upper lip|Cleft of upper lip|Harelip A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. HP:0001533 Slender build biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001533 UMLS:C1850573 Thin build|Slender build|Asthenic habitus|Thin body habitus Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones. HP:0002864 Paraganglioma of head and neck biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002864 UMLS:C1333944 Paragangliomas, head and neck HP:0002836 Bladder exstrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002836 MSH:D001746|UMLS:C0005689|SNOMEDCT_US:61758007 Ectopia vesicae Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall. HP:0002837 Recurrent bronchitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002837 UMLS:C0741796 Bronchitis, recurrent An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis. HP:0002834 Flared femoral metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002834 UMLS:C4025674 Flared metaphysis of thigh bone HP:0001504 Metacarpal osteolysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001504 UMLS:C1854610 Metacarpals osteolysis HP:0002835 Aspiration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002835 UMLS:C0700198|SNOMEDCT_US:68052005|SNOMEDCT_US:413585005|UMLS:C2712334 Pulmonary aspiration Inspiration of a foreign object into the airway. HP:0001507 Growth abnormality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001507 UMLS:C0262361 Growth abnormality|Growth issue|Abnormal growth HP:0001508 Failure to thrive biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001508 SNOMEDCT_US:432788009|SNOMEDCT_US:36440009|UMLS:C2315100|UMLS:C0231246 Faltering weight|Weight faltering|Undergrowth|Poor weight gain|Postnatal failure to thrive Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. HP:0002839 Urinary bladder sphincter dysfunction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002839 UMLS:C1843663 Sphincter disturbance|Sphincter disturbances Abnormal function of a sphincter of the urinary bladder. HP:0002832 Calcific stippling biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002832 UMLS:C1849993 Discrete calcific stippling An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs). HP:0001501 6 metacarpals biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001501 UMLS:C1861360 6 long bones of hand HP:0002833 Cystic angiomatosis of bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002833 UMLS:C4021749 Lytic cystic lesions in appendicular bones Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping. HP:0002831 Long coccyx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002831 UMLS:C3277116 Long tailbone HP:0001500 Broad finger biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001500 UMLS:C1844906 Wide fingers|Broad fingers|Broad finger Increased width of a non-thumb digit of the hand. HP:0002847 Impaired memory B cell generation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002847 UMLS:C4025672 Impaired production of memory cells, the B cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge. HP:0002848 Decreased specific anti-polysaccharide antibody level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002848 UMLS:C4021747 Specific anti-polysaccharide antibody deficiency|Low specific anti-polysaccharide antibody titer|Depressed antibody response to polysaccharide antigens The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides. HP:0002845 obsolete Increased proportion of peripheral CD3+ T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002845 HP:0002846 Abnormal B cell morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002846 UMLS:C4021748 Abnormality of B cells|Abnormal B cells A structural abnormality of B cells. HP:0001518 Small for gestational age biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001518 UMLS:C0235991|UMLS:C0024032|SNOMEDCT_US:276610007|MSH:D007230|SNOMEDCT_US:267258002 Small for gestational age|Birth weight less than 10th percentile|Low birth weight Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. HP:0002849 Absence of lymph node germinal center biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002849 UMLS:C1847383 Absence of lymph node germinal centre|Lymph nodes lack germinal center|Lymphoid germinal center defect Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses. HP:0001519 Disproportionate tall stature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001519 UMLS:C0003706|MSH:D054119|UMLS:C1836996|SNOMEDCT_US:62250003 Marfanoid habitus|Marfanoid body habitus|Reduced upper-lower segment ratio|Dolichostenomelia A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim. HP:0002840 Lymphadenitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002840 UMLS:C0024205|MSH:D008199|SNOMEDCT_US:19471005 Inflammation of the lymph nodes Inflammation of a lymph node. HP:0002843 Abnormal T cell morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002843 UMLS:C1855752 Abnormality of T cells|Defective cellular immunity|Cellular immune defect|Abnormal T cells An abnormality of T cells. HP:0001513 Obesity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001513 SNOMEDCT_US:414915002|MSH:D009765|SNOMEDCT_US:414916001|UMLS:C0028754 Having too much body fat|Obesity Accumulation of substantial excess body fat. HP:0001510 Growth delay biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001510 SNOMEDCT_US:444896005|UMLS:C3552463|UMLS:C1837385|UMLS:C0878787|SNOMEDCT_US:59576002|UMLS:C0456070|SNOMEDCT_US:276617005|UMLS:C0151686 Poor growth|Delayed growth|Growth failure|Retarded growth|Very poor growth|Growth deficiency|Growth retardation|Growth delay A deficiency or slowing down of growth pre- and postnatally. HP:0002841 Recurrent fungal infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002841 UMLS:C1844384 Recurrent fungal infections Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection. HP:0002842 Recurrent Burkholderia cepacia infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002842 UMLS:C4025673 Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent. HP:0001511 Intrauterine growth retardation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001511 UMLS:C0015934|MSH:D007236|SNOMEDCT_US:199612005|SNOMEDCT_US:22033007|MSH:D005317|UMLS:C1386048|UMLS:C0021296 Prenatal-onset growth retardation|Intrauterine growth failure|Prenatal growth retardation|Intrauterine growth retardation, IUGR|Small for gestational age infant|Prenatal onset growth retardation|In utero growth retardation|Intrauterine growth restriction|Prenatal growth deficiency|Intrauterine retardation|Prenatal growth failure|IUGR An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. HP:0012187 Increased erythrocyte protoporphyrin concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012187 UMLS:C4023007 An increased concentration of protoporphyrins in erythrocytes. HP:0012188 Hyperemesis gravidarum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012188 SNOMEDCT_US:14094001|UMLS:C0020450|MSH:D006939 Excessive vomiting in early pregnancy, leading to the loss of 5% or more of body weight. HP:0012189 Hodgkin lymphoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012189 UMLS:C0019829|SNOMEDCT_US:118606001|SNOMEDCT_US:74189002|SNOMEDCT_US:70600005|SNOMEDCT_US:14537002|SNOMEDCT_US:118602004|SNOMEDCT_US:118599009|SNOMEDCT_US:118605002|SNOMEDCT_US:46923007|MSH:D006689 Hodgkin disease|Hodgkin's lymphoma A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells. HP:0012180 Cystic medial necrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012180 SNOMEDCT_US:45894003|SNOMEDCT_US:234021009|MSH:C536230|SNOMEDCT_US:42182000|UMLS:C0392775 Arterial cystic medial necrosis A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells. HP:0012181 Entrapment neuropathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012181 SNOMEDCT_US:45781009|UMLS:C1510429|MSH:D009408 Malfunction of a peripheral nerve resulting from mechanical compression of the nerve roots from internal or external causes and leading to a conduction block or axonal loss. HP:0012182 Oropharyngeal squamous cell carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012182 UMLS:C0280313|SNOMEDCT_US:423464009|SNOMEDCT_US:707585008 A squamous cell carcinoma that originates in the oropharnyx. HP:0012183 Hyperplastic colonic polyposis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012183 UMLS:C4023010 Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation. HP:0012184 Increased HDL cholesterol concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012184 UMLS:C0342883|MSH:C564591|SNOMEDCT_US:238080004 Increased circulating high-density lipoprotein levels|High blood HDL level|Hyperalphalipoproteinemia An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood. HP:0012185 Constrictive median neuropathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012185 UMLS:C4023009 Carpal tunnel syndrome Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand. HP:0012186 Entrapment neuropathy of the ulnar nerve at elbow biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012186 UMLS:C4023008 An entrapment neuropathy of the ulnar nerve in the cubital tunnel (in the elbow) characterized by numbness in the ring and little fingers and weakness of the intrinsic muscles in the hand. HP:0025497 Coronary artery spasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025497 Coronary artery vasospasm A brief and sudden narrowing of a coronary artery. HP:0000198 Absence of Stensen duct biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000198 UMLS:C1858569|UMLS:C4280674 Agenesis of parotid duct|Absence of parotid duct|Missing parotid duct|Agenesis of stensen duct|Failure of development of parotid duct|Missing stensen duct|Absent stensen duct|Failure of development of stensen duct HP:0000197 Abnormal parotid gland morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000197 UMLS:C4025880 Abnormality of parotid gland|Anomaly of the parotid gland Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear. HP:0025498 Aceruloplasminemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025498 Aceruloplasminaemia Absence of ceruloplasmin in the blood. HP:0025499 Class I obesity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025499 Obesity grade 1 Obesity with a body mass index of 30 to 34.9 kg per square meter. HP:0000199 Tongue nodules biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000199 UMLS:C0241438 Lingual nodules HP:0000190 Abnormal oral frenulum morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000190 UMLS:C4025881 Abnormality of oral frenula|Abnormality of frenum of tongue|Abnormality of oral frenum|Abnormality of lingual frenum An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity. HP:0025490 Myocardial bridging biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025490 Intramyocardial coronary artery course A congenital variant of a coronary artery in which a portion of an epicardial coronary artery (most frequently the middle segment of the left anterior descending artery) takes an intramuscular course. HP:0025491 Venous stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025491 Narrowing of a vein due to intimal hyperplasia and fibrosis. HP:0000191 Accessory oral frenulum biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000191 UMLS:C4021814 Multiple oral frenula|Accessory oral frenum|Extra oral frenulum|Supernumerary oral frenulum|Supernumerary oral frenum|Extra oral frenum Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip. HP:0025492 Microcoria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025492 A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs. HP:0025493 Palmoplantar erythema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025493 Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin. HP:0000194 Open mouth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000194 SNOMEDCT_US:262016004|UMLS:C0240379 Gaped jawed appearance|Open mouth|Open mouth appearance|Slack jawed appearance|Gaped mouthed appearance A facial appearance characterized by a permanently or nearly permanently opened mouth. HP:0000193 Bifid uvula biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000193 SNOMEDCT_US:18910001|UMLS:C0266122 Cleft uvula|Forked uvula|Cleft of uvula|Uvula bifida|Bifid palatine uvula|Split uvula Uvula separated into two parts most easily seen at the tip. HP:0025494 Coated aorta biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025494 Regular circumferential periaortic fibrosis involving the whole aorta and leading to a coated aorta appearance on computed tomography scans HP:0025495 Descending aorta hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025495 Significant luminal narrowing of a long segment of the descending aorta. HP:0000196 Lower lip pit biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000196 UMLS:C1861544 Depression located on the vermilion of the lower lip, usually paramedian. HP:0025496 Abnormal coronary artery physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025496 Any anomaly of the function of a coronary artery. HP:0012176 Abnormal natural killer cell morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012176 UMLS:C4021098 Abnormal NK cells|Abnormality of natural killer cells 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. HP:0012177 Abnormal natural killer cell physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012177 UMLS:C4023012 A functional anomaly of the natural killer cell. HP:0012178 Reduced natural killer cell activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012178 UMLS:C1839969 Reduced ability of the natural killer cell to function in the adaptive immune response. HP:0012179 Craniofacial dystonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012179 UMLS:C1851915|UMLS:C4072883|UMLS:C4023011 Abnormal craniofacial muscle tone|Abnormal craniofacial posture|Abnormal facial muscle tone|Facial Dystonia|Distorted craniofacial posture A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia. HP:0012170 Nail-biting biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012170 MSH:D009259|SNOMEDCT_US:37298006|ICD-10:F98.8|UMLS:C0027338 Nail-biting|Onychophagy|Onychophagia Habitual biting of one's own fingernails. HP:0012171 Stereotypical hand wringing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012171 UMLS:C4023014 Habitual clasping and squeezing of the hands. HP:0012172 Stereotypical body rocking biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012172 UMLS:C4023013 Habitual repetitive movement of the body. HP:0012173 Orthostatic tachycardia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012173 UMLS:C4021099 Postural tachycardia An increase in heart rate with standing of 30 beats per minute or more. HP:0012174 Glioblastoma multiforme biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012174 UMLS:C1621958|SNOMEDCT_US:393563007|SNOMEDCT_US:63634009|MSH:D005909 Glioblastoma A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation. HP:0012175 Resistance to activated protein C biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012175 MSH:D020016|SNOMEDCT_US:421527008|UMLS:C0600433 Activated protein C resistance Poor anticoagulant response to activated protein C. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time assay. HP:0025486 Fused labia majora biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025486 The outer labia are sealed together. HP:0025487 Abnormality of bladder morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025487 Any structural anomaly of the bladder. HP:0025488 Detrusor sphincter dyssynergia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025488 A urodynamic anomaly characterized by bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation. HP:0025489 Bladder duplication biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025489 A congenital anomaly characterized by the presence of two bladders. HP:0025480 Lipomyelomeningocele biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025480 A type of spinal dysraphism presenting as a subcutaneous fatty mass, that is, a spinal defect associated with lipomatous tissue, and covered by skin. The most usual location for lipomyelomeningocele is at the gluteal cleft. HP:0025481 Cervical hemivertebrae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025481 Absence of one half of the vertebral body in the cervical spine. HP:0025482 Positive perchlorate discharge test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025482 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. HP:0025483 Abnormal circulating thyroglobulin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025483 A deviation from the normal concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones. HP:0025484 Increased circulating thyroglobulin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025484 An abnormal elevation of the concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones. HP:0025485 Vaginal adenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025485 Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent Müllerian (synonymous with paramesonephric) epithelium islets in postembryonic life. HP:0012165 Oligodactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012165 UMLS:C3887496 A developmental defect resulting in the presence of fewer than the normal number of digits. HP:0012166 Skin-picking biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012166 UMLS:C1696701|ICD-10:F63.3 Compulsive skin picking|Dermatillomania Repetitive and compulsive picking of skin which results in tissue damage. HP:0012167 Hair-pulling biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012167 UMLS:C0040953|MSH:D014256|SNOMEDCT_US:17155009 Trichotillomania A phenomenon in which persons repetitively pull out their own hair, resulting in noticeable hair loss. HP:0012168 Head-banging biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012168 MSH:D019956|UMLS:C0018672|SNOMEDCT_US:43954004 Head-banging Habitual striking of one's own head against a surface such as a mattress or wall of a crib. HP:0012169 Self-biting biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012169 UMLS:C0424375|SNOMEDCT_US:248072009 Habitual biting of one's own body. HP:0012160 Intracranial internal carotid artery dissection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012160 UMLS:C4023017 A separation (dissection) of the layers of the intracranial portion of the internal carotid artery wall. HP:0012161 External carotid artery dissection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012161 UMLS:C4023016 A separation (dissection) of the layers of the external carotid artery wall. HP:0012162 Common carotid artery dissection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012162 UMLS:C4023015 A separation (dissection) of the layers of the common carotid artery wall. HP:0012163 Carotid artery dilatation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012163 UMLS:C0340639|SNOMEDCT_US:233988005 Carotid artery aneurysm A dilatation (balooning or bulging out of the vessel wall) of a carotid artery. HP:0012164 Asterixis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012164 UMLS:C0232766|MSH:D020820|SNOMEDCT_US:32838008 A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints. HP:0000176 Submucous cleft hard palate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000176 UMLS:C0432103|UMLS:C4020894|SNOMEDCT_US:43437003 Partial thickness cleft hard palate|Submucosal cleft palate|Submucous clefting Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate. HP:0025475 Erythematous macule biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025475 A macule (flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin) with a red or reddish color often associated with inflammation or irritation. HP:0000175 Cleft palate biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000175 Fyler:4876|MSH:D002972|SNOMEDCT_US:87979003|SNOMEDCT_US:63567004|UMLS:C0008925|UMLS:C2981150 Cleft roof of mouth|Cleft of hard and soft palate|Cleft palate|Cleft of palate|Cleft hard and soft palate|Cleft secondary palate|Palatoschisis|Uranostaphyloschisis Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). HP:0025476 Testicular lipomatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025476 Multiple foci of adipocytes within the testicular interstitium, usually presenting as multiple bilateral ill-defined hyperechoic intratesticular lesions of different sizes but generally with maximum diameter of 4 mm. HP:0000178 Abnormality of lower lip biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000178 UMLS:C4025883 Anomaly of the lower lip|Malformation of the lower lip|Deformity of the lower lip|Abnormality of lower lip An abnormality of the lower lip. HP:0025477 Periarticular calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025477 Calcified deposits in soft tissue structures outside a joint. HP:0000177 Abnormality of upper lip biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000177 UMLS:C4025884 Deformity of the upper lip|Malformation of the upper lip|Abnormality of upper lip|Anomaly of the upper lip An abnormality of the upper lip. HP:0025478 Atrial standstill biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025478 Silent atrium 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. HP:0025479 Self-neglect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025479 Neglecting one's own needs and well-being. HP:0000179 Thick lower lip vermilion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000179 UMLS:C1839739|UMLS:C2053437 Full lower lip|Plump lower lip|Prominent lower lip|Full lower lip vermilion|Thick red part of the lower lip|Increased volume of lower lip vermilion|Prominent lower lip vermilion|Increased height of lower lip vermilion|Thick lower lip|Increased volume of lower lip|Thick vermilion border of lower lip Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective). HP:0025470 Telogen effluvium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025470 A type of hair loss characterized by an abnormal increase in dormant, telogen stage hair follicles. HP:0025471 Congenital panfollicular nevus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025471 A hamartomatous proliferation containing malformed hair follicles in various stages of development. Panfolliculomas are well-circumscribed lesions demonstrating all stages of follicular differentiation. HP:0000172 Abnormality of the uvula biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000172 UMLS:C4025885 Abnormality of the uvula|Abnormality of palatine uvula Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate. HP:0000171 Microglossia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000171 UMLS:C0426492|SNOMEDCT_US:249380003|MSH:D014060|UMLS:C0025988|SNOMEDCT_US:32614006 Underdevelopment of the tongue|Rudimentary tongue|Hypoplasia of the tongue|Hypoglossia|Small tongue|Lingual hypoplasia|Decreased size of tongue|Hypoplastic tongue|Abnormally small tongue Decreased length and width of the tongue. HP:0025472 Recurrent plantar mycosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025472 A history of repeated fungal infections located on the sole of the foot, usually manifested by scaling, maceration, and itching. HP:0000174 Abnormal palate morphology biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000174 UMLS:C4021815 Abnormality of the palate|Palatal anomaly|Abnormality of the roof of the mouth|Palate abnormality Any abnormality of the palate, i.e., of roof of the mouth. HP:0025473 Hyperpigmented papule biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025473 A papule (circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point) that exhibits increased pigmentation (is darker) compared to the surrounding skin. HP:0025474 Erythematous plaque biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025474 Violaceous plaque A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation. HP:0012154 Anhedonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012154 UMLS:C0178417|SNOMEDCT_US:247796005|SNOMEDCT_US:28669007|MSH:D059445 Inability to experience pleasure activities usually found enjoyable. HP:0012155 Decreased corneal sensation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012155 UMLS:C0271292|UMLS:C0859996|SNOMEDCT_US:373433005 Corneal hypaesthesia|Decreased corneal sensitivity|Reduced corneal sensation|Corneal hypesthesia Reduced ability of the cornea to respond to stimulation. HP:0012156 Hemophagocytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012156 UMLS:C0876991|SNOMEDCT_US:61070002 Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues. HP:0012157 Subcortical cerebral atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012157 UMLS:C4023018 Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter. HP:0012158 Carotid artery dissection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012158 UMLS:C0338585 A separation (dissection) of the layers of the carotid artery wall. HP:0012159 Internal carotid artery dissection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012159 SNOMEDCT_US:705066004|UMLS:C0751815|MSH:D020215 A separation (dissection) of the layers of the internal carotid artery wall. HP:0012150 Single lineage myelodysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012150 UMLS:C4023019 Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic). HP:0012151 Hemothorax biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012151 MSH:D006491|UMLS:C0019123|SNOMEDCT_US:31892009 The presence of blood in the pleural space. HP:0012152 Foveoschisis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012152 UMLS:C2674407 Retinoschisis involving the fovea Splitting of the retinal layers in the macula. HP:0012153 Hypotriglyceridemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012153 UMLS:C0542037 Decreased circulating Tg levels|Low blood triglyceride levels|Decreased plasma Tg levels An decrease in the level of triglycerides in the blood. HP:0000187 Broad alveolar ridges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000187 UMLS:C4280675|UMLS:C1857500 Wide alveolar margins|Broad alveolar margins|Wide alveolar processes of jaw|Widened alveolar ridges|Wide gum ridges|Broad alveolar processes of jaw HP:0025464 Increased reactive oxygen species production biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025464 Oxidative stress|Increased ROS production An accumulation of free radical groups in the body inadequately neutralized by antioxidants, which creates a potentially unstable and damaging cellular environment linked to tissue damage. HP:0025465 Abnormal circulating beta globulin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025465 A deviation from the normal concentration of beta globulin. The beta globulins are a group of globular (globe-shaped) proteins in blood. HP:0000189 Narrow palate biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000189 UMLS:C1398312 Decreased transverse dimension of palate|Decreased palatal width|Narrow palate|Narrow roof of mouth Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective). HP:0025466 Beta 2-microglobulinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025466 Increased level of beta 2-microglobulins in the urine. HP:0000188 Short upper lip biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000188 UMLS:C1848977 Short upper lip|Decreased height of upper lip|Vertical deficiency of upper lip|Shortening of upper lip|Decreased vertical length of upper lip|Decreased upper labial height|Decreased upper labial length Decreased width of the upper lip. HP:0025469 Anagen effluvium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025469 An abnormal loss of anagen (growth phase) hairs. HP:0000180 Lobulated tongue biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000180 SNOMEDCT_US:253752000|UMLS:C0431564 Lingual lobules|Lobulate tongue|Bumpy tongue Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour. HP:0000183 Difficulty in tongue movements biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000183 UMLS:C4280676|UMLS:C1853406 Hypokinesia of the tongue|Difficulty in tongue movements|Lingual hypokinesia|Difficulty in lingual movements HP:0025460 High myoinositol in brain by MRS biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025460 High myo-inositol in brain by MRS An elevated level of myoinositol in the brain identified by magnetic resonance spectroscopy (MRS). HP:0000182 Movement abnormality of the tongue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000182 UMLS:C4025882 Movement abnormality of the tongue|Abnormality of lingual movement HP:0025461 Abnormal cell morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025461 Any anomaly of cell structure. HP:0000185 Cleft soft palate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000185 SNOMEDCT_US:253997002|UMLS:C0432098|MSH:C562950 Cleft of soft palate|Cleft velum|Cleft muscular palate Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency. HP:0025462 obsolete Abnormal cellular physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025462 HP:0025463 Abnormality of redox activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025463 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. HP:0012198 Juvenile colonic polyposis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012198 UMLS:C4023006 The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. HP:0012199 Cluster headache biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012199 MSH:D003027|SNOMEDCT_US:230473009|ICD-10:G44.0|SNOMEDCT_US:193947008|SNOMEDCT_US:193031009|UMLS:C0009088 A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs. HP:0012190 T-cell lymphoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012190 MSH:D016399|SNOMEDCT_US:109978004|UMLS:C0079772|SNOMEDCT_US:3172003 T cell lymphoma A type of lymphoma that originates in T-cells. HP:0012191 B-cell lymphoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012191 UMLS:C0079731|SNOMEDCT_US:1929004|SNOMEDCT_US:413616009|SNOMEDCT_US:109979007|MSH:D016393 B cell lymphoma A type of lymphoma that originates in B-cells. HP:0012192 Cutaneous T-cell lymphoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012192 MSH:D016410|SNOMEDCT_US:28054005|UMLS:C0079773|SNOMEDCT_US:400122007 A type of T-cell lymphoma that exhibits malignant infiltration of the skin. HP:0012193 Anaplastic large-cell lymphoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012193 MSH:D017728|SNOMEDCT_US:277637000|SNOMEDCT_US:53237008|UMLS:C0206180 A type of T-cell lymphoma that is characterized by so-called hallmark cells with a pleomorphic appearance that express the CD30 antigen, are lobulated, and have indented nuclei. HP:0012194 Episodic hemiplegia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012194 UMLS:C1863061 Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body. HP:0012195 Irregular respiration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012195 SNOMEDCT_US:248585001|UMLS:C0425492 Irregular respiratory rhythm Uneven rhythm of breathing. HP:0012196 Cheyne-Stokes respiration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012196 SNOMEDCT_US:271824009|SNOMEDCT_US:309155007|UMLS:C1313952|MSH:D002639|UMLS:C0008039 Cheyne-Stokes breathing|Periodic respiration An abnormal pattern of respiration characterized by cycles of respiration that are increasingly deeper then shallower with possible periods of apnea. Affected patients may display a 10 to 20 second episode of hypoventilation or apnea, followed by respiration of increased depth and frequency over the course of about one minute. The cycle repeats every 45 seconds to 3 minutes. HP:0012197 Insulinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012197 SNOMEDCT_US:25324008|UMLS:C0021670|MSH:D007340|SNOMEDCT_US:302822000 Pancreatic insulinoma A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia. HP:0012100 Abnormal circulating creatinine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012100 UMLS:C4021101 Abnormal circulating creatinine level|Abnormal blood creatinine level|Creatinine levels abnormal An abnormal concentration of creatinine in the blood. HP:0012101 Decreased serum creatinine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012101 UMLS:C0428282|SNOMEDCT_US:166715006 Reduced creatinine levels|Decreased serum creatinine|Low blood creatinine level An abnormally reduced amount of creatinine in the blood. HP:0012102 Abnormal mitochondrial number biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012102 UMLS:C4023043 A deviation from the normal number of mitochondria per cell. HP:0012103 Abnormality of the mitochondrion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012103 UMLS:C4023042|UMLS:C4020732 Mitochondrial abnormalities An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration. HP:0012104 Parietal cortical atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012104 UMLS:C4023041 Atrophy of the parietal cortex. HP:0012105 Occipital cortical atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012105 UMLS:C4023040 Atrophy of the occipital cortex. HP:0012106 Rhizomelic leg shortening biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012106 UMLS:C4023039 Disproportionate shortening of the proximal segment of the leg (i.e. the femur). HP:0000118 Phenotypic abnormality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000118 UMLS:C4021819 Organ abnormality A phenotypic abnormality. HP:0025417 Patulous urethra biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025417 Urethra more open or expanded than normal. HP:0000117 Renal phosphate wasting biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000117 UMLS:C1845169 Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate|Tubular phosphate reabsorption low|Decreased renal tubular phosphate reabsorption High urine phosphate in the presence of hypophosphatemia. HP:0025418 Renal cortical necrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025418 Necrosis of the kidney cortex Patchy or diffuse ischemic destruction of all the elements of renal cortex resulting from significantly diminished renal arterial perfusion. Coagulative necrosis may be present, involving all tubular segments and glomeruli. Nuclei may be pale and pyknotic, or may no longer be apparent. Thrombi may be present in vessels at the edge of the infarct. HP:0002779 Tracheomalacia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002779 SNOMEDCT_US:95434006|UMLS:C0948187|MSH:D055090 Floppy windpipe HP:0025419 Pulmonary pneumatocele biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025419 Pulmonary pneumatocoele An air-filled cystic space within a lung. HP:0001449 Duplication of metatarsal bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001449 UMLS:C4025778 Duplication of long bones of foot HP:0000119 Abnormality of the genitourinary system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000119 MSH:D014564|SNOMEDCT_US:287085006|UMLS:C0042063|SNOMEDCT_US:42030000|UMLS:C4020895|UMLS:C0080276 Genitourinary dysplasia|Genitourinary disease|Urogenital anomalies|Abnormality of the GU system|Genitourinary abnormality|Urogenital abnormalities|Genitourinary tract malformation|Genitourinary tract anomalies The presence of any abnormality of the genitourinary system. HP:0000110 Renal dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000110 SNOMEDCT_US:204949001|UMLS:C1619700|MSH:C563261|UMLS:C3536714 Renal adysplasia|Dysplastic kidneys The presence of developmental dysplasia of the kidney. HP:0001442 Somatic mosaicism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001442 UMLS:C1866227 The presence of genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. HP:0002773 obsolete Small vertebral bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002773 HP:0001443 Abnormality of the gluteal musculature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001443 UMLS:C4025782 Abnormality of glutes HP:0025410 Splenogonadal fusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025410 Joining of the spleen and a gonad during embryological development. HP:0000112 Nephropathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000112 UMLS:C0022658|MSH:D007674|SNOMEDCT_US:90708001|UMLS:C1408258 Kidney disease|Kidney damage A nonspecific term referring to disease or damage of the kidneys. HP:0001440 Metatarsal synostosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001440 UMLS:C1862697 Fusion of metatarsals|Fusion of the long bones of the feet|Synostosis involving metatarsal bones HP:0001441 Abnormality of the musculature of the thigh biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001441 UMLS:C4025783 Abnormal thigh muscles HP:0000111 Renal juxtaglomerular cell hypertrophy/hyperplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000111 UMLS:C1866496 Increased number and size of the juxtaglomerular cells. HP:0001446 Abnormality of the musculature of the upper limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001446 UMLS:C4025779 Abnormal upper limb muscles HP:0025413 Fossa navicularis urethral stricture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025413 A type of urethral stricture affecting the fossa navicularis, which is the spongy part of the male urethra located at the glans penis. HP:0000114 Proximal tubulopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000114 UMLS:C1839603 Proximal tubular defect|Proximal renal tubulopathy|Proximal tubule dysfunction|Selective proximal tubular damage|Proximal renal tubule defect Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle. HP:0002777 Tracheal stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002777 UMLS:C0040583|MSH:D014135|SNOMEDCT_US:11296007 Narrowing of windpipe HP:0000113 Polycystic kidney dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000113 Fyler:4508|UMLS:C1567435|SNOMEDCT_US:82525005|MSH:D007690|UMLS:C0022680 Enlarged polycystic kidneys|Polycystic kidney disease|Polycystic kidneys The presence of multiple cysts in both kidneys. HP:0002778 Abnormal trachea morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002778 MSH:D014133|UMLS:C0040580|SNOMEDCT_US:47125007|UMLS:C4025678 Tracheal disease|Abnormality of the trachea A structural anomaly of the trachea. HP:0025414 Pendulous urethral stricture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025414 A type of urethral stricture affecting the pendulous urethra, which is straight and fixed to the corpora cavernosa. HP:0001444 Autosomal dominant somatic cell mutation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001444 UMLS:C4025781 Being related to a de novo variant that occurs in a single cell in developing somatic tissue. The cell is the progenitor of a population of identical mutant cells, all of which have descended from the cell that mutated. Clinical manifestations depend on the identity and proportion of affected cells in the body. HP:0025415 Bulbar urethral stricture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025415 A type of urethral stricture affecting the bulbar urethra, which is the part of the urethra that traverses the root of the penis. HP:0001445 Abnormality of the hip-girdle musculature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001445 UMLS:C4025780 HP:0025416 Vaginal stricture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025416 A narrowing of the vagina owing to scar formation. HP:0012107 Increased fibular diameter biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012107 UMLS:C4021100 Wide fibula|Thick fibulae|Thick fibula|Wide calf bone Increased width of the cross sectional diameter of the fibula. HP:0012108 Open angle glaucoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012108 SNOMEDCT_US:77075001|MSH:C562750|UMLS:C0339573 Primary open angle glaucoma A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure, HP:0012109 Angle closure glaucoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012109 SNOMEDCT_US:392288006|UMLS:C0017606 Primary angle closure glaucoma A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact). HP:0025406 Asthenia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025406 A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body. HP:0000128 Renal potassium wasting biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000128 UMLS:C1846348 Renal K wasting High urine potassium in the presence of hypokalemia. HP:0025407 Rectourethral fistula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025407 Urethrorectal fistula An abnormal connection (fistula) between the rectum and the urethra. HP:0025408 Abnormal spleen morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025408 Any anomaly of the structure of the spleen. HP:0001459 1-3 toe syndactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001459 UMLS:C4025774 Webbed 1st-3rd toes Syndactyly with fusion of toes one to three. HP:0025409 Abnormal spleen physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025409 Any anomaly of the function of the spleen. HP:0000121 Nephrocalcinosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000121 UMLS:C4280679|SNOMEDCT_US:48638002|MSH:D009397|UMLS:C0027709 Too much calcium deposited in kidneys|Increased calcium level in kidney Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. HP:0001454 Abnormality of the upper arm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001454 UMLS:C4025776 HP:0025400 Nodular-random pattern on pulmonary HRCT biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025400 A nodular pattern on pulmonary high-resolution computed tomography that has an apparently random pattern. HP:0000123 Nephritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000123 UMLS:C0027697|SNOMEDCT_US:52845002|MSH:D009393 Kidney inflammation The presence of inflammation affecting the kidney. HP:0000122 Unilateral renal agenesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000122 UMLS:C0266294|Fyler:4509|SNOMEDCT_US:55726006 Absent kidney on one side|Missing one kidney|Single kidney|Unilateral kidney agenesis A unilateral form of agenesis of the kidney. HP:0002783 Recurrent lower respiratory tract infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002783 UMLS:C0585953|SNOMEDCT_US:448739000|UMLS:C0149725|UMLS:C3163798|SNOMEDCT_US:50417007 Lower respiratory tract infections|Chronic lung infections|Recurrent chest infections An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections. HP:0025401 Staring gaze biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025401 Staring eyes An abnormality in which the eyes are held permanently wide open. HP:0001452 Autosomal dominant contiguous gene syndrome biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001452 UMLS:C4025777 HP:0000125 Pelvic kidney biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000125 UMLS:C0221209|SNOMEDCT_US:56108007 Sacral kidney A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis. HP:0001457 Abnormality of the musculature of the upper arm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001457 UMLS:C4025775 HP:0002788 Recurrent upper respiratory tract infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002788 SNOMEDCT_US:195708003|UMLS:C0581381 Recurrent upper respiratory infection|Upper respiratory tract infections|Recurrent URI|Recurrent upper respiratory and lower respiratory infections|Recurrent colds|Frequent upper respiratory tract infections|Upper respiratory tract infections, recurrent|Recurrent upper respiratory infections|Frequent upper respiratory 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). HP:0025402 Square-wave jerks biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025402 Square wave jerks are saccadic eye movements which, when recorded with open eyes are considered to be a pathological sign, caused by fixation instability, and pointing to a central neurological lesion. HP:0002789 Tachypnea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002789 MSH:D059246|SNOMEDCT_US:271823003|UMLS:C0231835 Increased respiratory rate or depth of breathing|Polypnea Very rapid breathing. HP:0025403 Stooped posture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025403 A habitual positioning of the body with the head and upper back bent forward. HP:0000124 Renal tubular dysfunction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000124 SNOMEDCT_US:95568003|UMLS:C0151747 Abnormal function of filtrating structures in kidney|Renal tubular disease|Renal tubular defect Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid. HP:0002786 Tracheobronchomalacia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002786 SNOMEDCT_US:233788001|MSH:D055089|UMLS:C0340231 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. HP:0000127 Renal salt wasting biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000127 UMLS:C1846347 Renal salt-wasting|Salt wasting|Salt-wasting|Loss of salt in urine A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s). HP:0025404 Abnormal visual fixation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025404 Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location. HP:0002787 Tracheal calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002787 SNOMEDCT_US:81089005|UMLS:C0264324 Calcification of the trachea|Tracheal calcifications|Tracheal ectopic calcification Calcification (abnormal deposits of calcium) in the tracheal tissues. HP:0000126 Hydronephrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000126 SNOMEDCT_US:43064006|MSH:D006869|UMLS:C0020295|Fyler:4502 Severe distention of the kidney with dilation of the renal pelvis and calices. HP:0025405 Visual fixation instability biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025405 Instability of ocular fixation A deficit in the ability to fixate eye movements in order to stabilize images on the retina HP:0002780 Bronchomalacia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002780 SNOMEDCT_US:54203008|MSH:D055091|UMLS:C0264353 Weakness or softness of the cartilage in the walls of the bronchial tubes. HP:0002781 Upper airway obstruction biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002781 UMLS:C0740852 Upper airway obstruction Increased resistance to the passage of air in the upper airway. HP:0001450 Y-linked inheritance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001450 UMLS:C0814045|MSH:D050173 A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome. HP:0001428 Somatic mutation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001428 SNOMEDCT_US:124975008|UMLS:C0544886 A mode of inheritance in which a trait or disorder results from a de novo mutation occurring after conception, rather than being inherited from a preceding generation. HP:0002757 Recurrent fractures biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002757 SNOMEDCT_US:5468008|UMLS:C0016655|UMLS:C1833752|SNOMEDCT_US:134291007|UMLS:C3805574|MSH:D000069076|UMLS:C3806283 Increased fracture rate|Recurrent fractures|Increased fractures|Multiple spontaneous fractures|Varying degree of multiple fractures|Multiple fractures|Frequent fractures The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). HP:0001426 Multifactorial inheritance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001426 MSH:D020412|UMLS:C0600599 Familial predisposition A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases. HP:0002758 Osteoarthritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002758 UMLS:C0029408|MSH:D010003|SNOMEDCT_US:396275006|SNOMEDCT_US:225655006 Degenerative joint disease Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity. HP:0001427 Mitochondrial inheritance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001427 UMLS:C0887941|MSH:D050259 Mitochondrial A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy). HP:0002751 Kyphoscoliosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002751 UMLS:C0575158|SNOMEDCT_US:405773007 An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. HP:0001421 Abnormality of the musculature of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001421 UMLS:C4025786 Abnormal hand muscles HP:0002752 Sparse bone trabeculae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002752 UMLS:C1833324 HP:0002750 Delayed skeletal maturation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002750 SNOMEDCT_US:123983008|UMLS:C0541764 Skeletal maturation retardation|Retarded bone age|Delayed bone age|Retarded ossification|Delayed bone age before puberty|Delayed skeletal development|Delayed bone maturation A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. HP:0002755 obsolete Osteomyelitis due to immunodeficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002755 HP:0001425 Heterogeneous biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001425 MSH:D018740|UMLS:C0242960 Heterogeneity|Genetic heterogeneity HP:0002756 Pathologic fracture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002756 SNOMEDCT_US:268029009|SNOMEDCT_US:22640007|MSH:D005598|UMLS:C0016663 Spontaneous fractures|Pathologic fractures|Spontaneous fracture A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone. HP:0002753 Thin bony cortex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002753 UMLS:C1833325 Thin cortices Abnormal thinning of the cortical region of bones. HP:0001423 X-linked dominant inheritance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001423 UMLS:C1847879 X-linked dominant A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. HP:0002754 Osteomyelitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002754 SNOMEDCT_US:111253001|UMLS:C0029443|UMLS:C2242472|SNOMEDCT_US:60168000|MSH:D010019 Bone infection Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. HP:0000107 Renal cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000107 UMLS:C3887499|UMLS:C0022679|MSH:D052177 Renal cysts|Cystic kidneys|Cystic kidney disease|Kidney cyst A fluid filled sac in the kidney. HP:0001437 Abnormality of the musculature of the lower limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001437 UMLS:C4025784 HP:0001438 Abnormal abdomen morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001438 UMLS:C4020869 Abdomen abnormality|Abnormality of abdomen morphology|Abnormality of abdomen structure|Abnormality of the abdomen A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax. HP:0000108 Renal corticomedullary cysts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000108 UMLS:C1968619 Renal corticomedullary cystic disease|Corticomedullary renal cysts The presence of multiple cysts at the border between the renal cortex and medulla. HP:0002762 Multiple exostoses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002762 MSH:D005097|UMLS:C0015306|SNOMEDCT_US:254044004 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. HP:0002763 Abnormal cartilage morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002763 UMLS:C4025680 Abnormality of cartilage morphology|Abnormal shape of cartilage Any morphological abnormality of cartilage. HP:0000100 Nephrotic syndrome biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000100 UMLS:C0027726|SNOMEDCT_US:52254009|MSH:D009404 Nephrosis 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. HP:0002761 Generalized joint laxity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002761 UMLS:C1836308 Joint laxity, generalized|Generalised joint laxity|Hypermobility of all joints Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. HP:0001430 Abnormality of the calf musculature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001430 UMLS:C4021779 Abnormality of calf musculature|Abnormal calf muscles HP:0001435 Abnormality of the shoulder girdle musculature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001435 UMLS:C4021778 Abnormality of shoulder musculature HP:0000103 Polyuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000103 SNOMEDCT_US:28442001|MSH:D011141|UMLS:C0032617|SNOMEDCT_US:56574000|SNOMEDCT_US:718402002 Increased urine output An increased rate of urine production. HP:0002766 Relatively short spine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002766 UMLS:C3277114 Relatively short spine HP:0001436 Abnormality of the foot musculature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001436 UMLS:C4025785 Abnormal foot muscles An anomaly of the musculature of foot. HP:0000105 Enlarged kidney biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000105 SNOMEDCT_US:300444006|UMLS:C0542518 Renal enlargement|Large kidneys|Large kidney|Enlarged kidney|Nephromegaly An abnormal increase in the size of the kidney. HP:0001433 Hepatosplenomegaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001433 UMLS:C0019214|SNOMEDCT_US:36760000 Enlarged liver and spleen Simultaneous enlargement of the liver and spleen. HP:0002764 Stippled chondral calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002764 UMLS:C4025679 HP:0000104 Renal agenesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000104 Fyler:4503|SNOMEDCT_US:204942005|UMLS:C0542519 Renal aplasia|Absent kidney|Missing kidney Agenesis, that is, failure of the kidney to develop during embryogenesis and development. HP:0012143 Abnormal megakaryocyte morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012143 UMLS:C4023026 Abnormality of cells of the megakaryocyte lineage Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells. HP:0012144 Abnormal monocyte morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012144 UMLS:C4023025 Any structural anomaly of a myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells. HP:0012145 Abnormality of multiple cell lineages in the bone marrow biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012145 UMLS:C4023024 HP:0012146 Abnormality of von Willebrand factor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012146 UMLS:C4023023 Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces. HP:0012147 Reduced quantity of Von Willebrand factor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012147 UMLS:C4023022|UMLS:C1841816 Decreased von Willebrand factor Decreased quantity of von Willebrand factor. HP:0012148 Multiple lineage myelodysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012148 UMLS:C4023021 Myelodysplasia with dysplastic changes in two or more of the myeloid lineages: erythroid, granulocytic, megakaryocytic. HP:0012149 Bilineage myelodysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012149 UMLS:C4023020 Myelodysplasia with dysplastic changes in two of the myeloid lineages: erythroid, granulocytic, megakaryocytic. HP:0012140 obsolete Abnormality of cells of the lymphoid lineage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012140 HP:0012142 Pancreatic squamous cell carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012142 UMLS:C2675993 Squamous cell carcinoma of the pancreas A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium. HP:0000154 Wide mouth biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000154 UMLS:C0024433|SNOMEDCT_US:40159009|MSH:D008265 Broad mouth|Large oral aperture|Macrostomia|Wide mouth|Large mouth Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). HP:0025453 Delayed adrenarche biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025453 Occurence of adrenarche at a later than normal age. Adrenarche normally occurs between six and eight years of age with increased adrenal androgen secretion; its exact biologic role is not well understood. It is accompanied by changes in pilosebaceous units, a transient growth spurt and the appearance of axillary and pubic hair in some children, but no sexual development. HP:0000153 Abnormality of the mouth biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000153 UMLS:C0026633|MSH:D009056|SNOMEDCT_US:128334002 Abnormality of the mouth|Abnormal mouth An abnormality of the mouth. HP:0025454 Abnormal CSF metabolite level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025454 Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid. HP:0001487 obsolete Hypopigmented fundi biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001487 HP:0025455 Decreased CSF 5-hydroxyindolacetic acid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025455 Decreased CSF 5-HIAA|Low CSF 5-HIAA|Low CSF 5-hydroxyindolacetic acid CSF 5-HIAA (5-hydroxyindolacetic acid) level is below the lower limit of normal. HP:0000155 Oral ulcer biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000155 UMLS:C0149745|MSH:D019226|SNOMEDCT_US:26284000 Mouth ulcer|Oral mucosal ulceration|Mouth sore Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue. HP:0025456 Abnormal CSF protein level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025456 Any deviation from the normal range of a protein concentration in the cerebrospinal fluid. HP:0000158 Macroglossia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000158 SNOMEDCT_US:25273001|MSH:D008260|UMLS:C0024421 Hypertrophy of the tongue|Lingual hypertrophy|Tongue hypertrophy|Large tongue|Abnormally large tongue|Increased size of tongue|Glossal hypertrophy|Lingual hyperplasia|Hyperplasia of the tongue Increased length and width of the tongue. HP:0025457 Decreased CSF protein biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025457 Low CSF total protein|Hypoproteinorrhachia|Decreased cerebrospinal fluid total protein CSF total protein level is below the lower limit of normal. HP:0000157 Abnormality of the tongue biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000157 UMLS:C0878638 Tongue abnormality|Glossal abnormality|Abnormality of the tongue|Abnormal tongue|Lingual abnormality Any abnormality of the tongue. HP:0025458 Decreased CSF albumin concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025458 Low CSF albumin|CSF albumin level is below the lower limit of normal. HP:0001488 Bilateral ptosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001488 UMLS:C1865916 Drooping of both upper eyelids HP:0025459 Increased CSF/serum albumin ratio biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025459 An increase above normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration. HP:0000159 Abnormal lip morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000159 UMLS:C2183966 Malformation of lip|Deformity of lip|Abnormal lip|Lip abnormality|Abnormality of the lip|Anomaly of lip An abnormality of the lip. HP:0001489 Posterior vitreous detachment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001489 SNOMEDCT_US:247081001|UMLS:C0423361|MSH:D020255 Vitreous detachment Separation of the vitreous humor from the retina. HP:0000150 Gonadoblastoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000150 MSH:D018238|NCIT:C3754|SNOMEDCT_US:74751003|UMLS:C0206661 The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements. HP:0001482 Subcutaneous nodule biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001482 UMLS:C0746926|SNOMEDCT_US:95325000|UMLS:C0151811 Subcutaneous nodules|Multiple, subcutaneous nodules|Growth of abnormal tissue under the skin|Firm lump under the skin|Nodule below the skin Slightly elevated lesions on or in the skin with a diameter of over 5 mm. HP:0001483 Eye poking biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001483 UMLS:C0233593|SNOMEDCT_US:78894008 Repetitive pressing, poking, and/or rubbing in the eyes. HP:0001480 Freckling biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001480 SNOMEDCT_US:699225003|SNOMEDCT_US:403536009|UMLS:C0016689|MSH:D008548 Freckling The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. HP:0000152 Abnormality of head or neck biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000152 UMLS:C4021817 Abnormality of head or neck|Head and neck abnormality An abnormality of head and neck. HP:0025451 Testicular adrenal rest tumor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025451 Testicular adrenal rest tumour 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. HP:0000151 Aplasia of the uterus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000151 SNOMEDCT_US:248942000|UMLS:C0425913 uterus absent|Absent uterus Aplasia of the uterus. HP:0025452 Pyoderma gangrenosum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025452 A deep skin ulcer with a well defined border, which is usually violet or blue. The ulcer edge is often undermined (worn and damaged) and the surrounding skin is erythematous and indurated. The ulcer often starts as a small papule or collection of papules, which break down to form small ulcers with a so called cat's paw appearance. These coalesce and the central area then undergoes necrosis to form a single ulcer. HP:0012132 Erythroid hyperplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012132 UMLS:C1838111|UMLS:C0014800|UMLS:C3552917 Bone marrow smear shows erythroid hyperplasia|Bone marrow biopsy shows erythroid hyperplasia Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. HP:0012133 Erythroid hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012133 UMLS:C0178416|UMLS:C0542035|SNOMEDCT_US:41614006|SNOMEDCT_US:167923006|MSH:D000741 Erythroblastopenia|Erythroid hypoplasia in the bone marrow Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. HP:0012134 Dysplastic erythropoesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012134 UMLS:C4023032 HP:0012135 Abnormal granulocytopoietic cell morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012135 UMLS:C4023031 Abnormality of cells of the granulocytic lineage An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell. HP:0012136 Dysplastic granulopoesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012136 UMLS:C4023030 HP:0012137 Abnormal number of granulocyte precursors biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012137 UMLS:C4023029 HP:0012138 Granulocytic hyperplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012138 UMLS:C4023028 HP:0012139 Granulocytic hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012139 UMLS:C1534864|SNOMEDCT_US:416627004 Decreased number of granulocyte precursors in the bone marrow. HP:0012130 Abnormal erythroid lineage cell morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012130 UMLS:C4020862 Abnormality of cells of the erythroid lineage An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes. HP:0012131 Abnormal number of erythroid precursors biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012131 UMLS:C4023033 A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. HP:0000164 Abnormality of the dentition biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000164 SNOMEDCT_US:422775003|MSH:D014071|UMLS:C0262444|UMLS:C0040427 Tooth abnormalities|Abnormal dentition|Dental abnormalities|Abnormality of the teeth|Abnormal teeth|Dental problems|Dental anomalies|Dental abnormality|Dental problem Any abnormality of the teeth. HP:0001498 Carpal bone hypoplasia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001498 UMLS:C1863749|UMLS:C4280594 Hypoplastic carpal bones|Hypoplasia of carpal bones|Small carpals|Small carpal bones|Small wrist bones Underdevelopment of one or more carpal bones. HP:0025443 Abnormal cardiac atrial physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025443 An abnormality of the function of the cardiac atria. HP:0001495 Carpal osteolysis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001495 UMLS:C1833734 Carpal bone osteolysis Osteolysis affecting carpal bones. HP:0025444 Reduced amygdala volume biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025444 Decrease in amygdala volume A decrease in the volume (size) of the amygdyla. HP:0025445 Morphological abnormality of the papillary muscles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025445 Any structural anomaly of the papillary muscles of the left ventricle. HP:0000166 Severe periodontitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000166 UMLS:C4025886 Severe periodontal disease|Severe pyorrhea|Severe gum disease A severe form of periodontitis. HP:0000169 Gingival fibromatosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000169 SNOMEDCT_US:109620006|MSH:C562884|MSH:D005351|UMLS:C0399440|SNOMEDCT_US:58569000|UMLS:C4280677|UMLS:C0016049|NCIT:C3041 Idiopathic gingival hyperplasia|Gingival fibroma|Gingival fibrous nodules|Hereditary gingival fibromatosis The presence of fibrosis of the gingiva. HP:0025446 Anomalous insertion of papillary muscle directly into anterior mitral leaflet biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025446 A congenital malformation in which one or both of the papillary muscles (posteromedial or anterolateral) insert directly (that is, without interpositioned chordae tendineae) into the anterior mitral leaflet. HP:0000168 Abnormality of the gingiva biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000168 UMLS:C4021816 Gingival abnormality|Abnormality of the gums Any abnormality of the gingiva (also known as gums). HP:0025447 Displacement of the papillary muscles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025447 Abnormal location of the insertion of a papillary muscle into the left ventricular wall. HP:0025448 Anterior displacement of the papillary muscles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025448 Anteriorly displaced papillary muscles Abnormally anterior location of the papillary muscles of the left ventricle. HP:0025449 Apically displaced anterolateral papillary muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025449 Apically displaced papillary muscles Abnormal location of the insertion of the anterolateral papillary muscle near to the apex of the left ventricle. This feature may be appreciated by noting that this muscle is usually not seen in the apical level of the parasternal short-axis echocardiographic view, HP:0000161 Median cleft lip biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000161 UMLS:C1850256 Central cleft upper lip|Midline cleft lip A type of cleft lip presenting as a midline (median) gap in the upper lip. HP:0001493 Falciform retinal fold biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001493 SNOMEDCT_US:204181009|UMLS:C0344550 Congenital retinal fold An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset. HP:0000160 Narrow mouth biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000160 SNOMEDCT_US:14582003|UMLS:C0026034|MSH:D008865 Microstomia|Small mouth|Small oral aperture|Narrow mouth Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). HP:0000163 Abnormal oral cavity morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000163 UMLS:C4025887 Abnormality of the oral cavity Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth. HP:0001491 Congenital fibrosis of extraocular muscles biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001491 UMLS:C1302995|MSH:C580012|SNOMEDCT_US:400946004 CFEOM|Congenital fibrosis of the extraocular muscles|Congenital ophthalmoplegia Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements. HP:0025440 Warm reactive autoantibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025440 Warm reactive autoantibodies are RBC-directed immune responses that are maximally reactive at 37 degrees C. HP:0025441 Achilles tendon calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025441 Calcification of the Achilles tendon Ectopic deposition of calcium salts in the Achilles tendon. HP:0000162 Glossoptosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000162 MSH:D065710|SNOMEDCT_US:3639002|UMLS:C0267048|UMLS:C4280678 Posterior displacement of the tongue|Retraction of the tongue|Lingual retraction Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly. HP:0001492 Axenfeld anomaly biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001492 SNOMEDCT_US:204152008|MSH:C535679|UMLS:C0266548 Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line. HP:0012121 Panuveitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012121 SNOMEDCT_US:75614007|MSH:D015864|UMLS:C0030343 Inflammation of the uveal tract in which inflammation affects the anterior chamber, vitreous, retina or choroid. HP:0012122 Anterior uveitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012122 SNOMEDCT_US:4927003|UMLS:C0701807 Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber. HP:0012123 Posterior uveitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012123 UMLS:C0008526|UMLS:C0042167|SNOMEDCT_US:43363007|MSH:D015866|SNOMEDCT_US:16553002|MSH:D002833 Choroiditis Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid. HP:0012124 Intermediate uveitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012124 MSH:D015867|UMLS:C0042166|SNOMEDCT_US:314429009 Inflammation of the uveal tract in which the primary site of inflammation is the vitreous. HP:0012125 Prostate cancer biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012125 SNOMEDCT_US:399068003|MSH:D011471|UMLS:C0376358 Prostatic cancer A cancer of the prostate. HP:0012126 Stomach cancer biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012126 UMLS:C0699791|SNOMEDCT_US:372143007 Gastric cancer A cancer arising in any part of the stomach. HP:0012127 Uraciluria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012127 UMLS:C4021833 High urine uracil levels Increased concentration of uracil in the urine. HP:0012128 Basal ganglia necrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012128 UMLS:C4023035 Death of cells in the basal ganglia. HP:0025439 Pharyngitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025439 Inflammation (due to infection or irritation) of the pharynx. HP:0000139 Uterine prolapse biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000139 UMLS:C0042140|MSH:D014596|SNOMEDCT_US:24976005 Sagging uterus The presence of prolapse of the uterus. HP:0012120 Methylmalonic aciduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012120 MSH:C537358|UMLS:C1855119 High blood methylmalonic acid levels|Methymalonicaciduria Increased concentration of methylmalonic acid in the urine. HP:0025431 Staccato cry biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025431 A type of cry that is abnormal because it is consists of unusually shortened and detached vocalizations. HP:0000132 Menorrhagia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000132 MSH:D008595|UMLS:C0025323|SNOMEDCT_US:386692008 Hypermenorrhea|Abnormally heavy bleeding during menstruation Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days. HP:0001464 Aplasia/Hypoplasia involving the shoulder musculature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001464 UMLS:C4025772 Absent/small shoulder muscles|Absent/underdeveloped shoulder muscles Absence or underdevelopment of the muscles of the shoulder. HP:0002795 Abnormal respiratory system physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002795 UMLS:C4025677|Fyler:4200 Functional respiratory abnormality|Abnormal respiration|Respiratory problem HP:0000131 Uterine leiomyoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000131 NCIT:C3157|SNOMEDCT_US:95315005|SNOMEDCT_US:146801000119103|UMLS:C0042133|SNOMEDCT_US:44598004|MSH:D007889 Benign uterine leiomyomas|Uterine fibroid The presence of a leiomyoma of the uterus. HP:0025432 Acanthoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025432 A benign epithelial skin tumor manifesting as a slightly elevated circular plaque or nodule with a red, pink or brown color and a diameter up to 22 mm. HP:0001465 Amyotrophy involving the shoulder musculature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001465 UMLS:C4025771 Wasting of shoulder muscles|Shoulder muscle degeneration HP:0025433 Decreased lecithin cholesterol acyl transferase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025433 Reduced level of the enzyme lecithin cholesterol acyl transferase. HP:0000134 Female hypogonadism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000134 UMLS:C0271578|SNOMEDCT_US:16041008 Hypogonadism, female Decreased functionality of the female gonads, i.e., of the ovary. HP:0002793 Abnormal pattern of respiration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002793 UMLS:C1837388 Abnormal pattern of respiration|Abnormal respiratory patterns|Unusual breathing patterns An anomaly of the rhythm or depth of breathing. HP:0000133 Gonadal dysgenesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000133 UMLS:C0018051|UMLS:C0018055|UMLS:C0687149|MSH:D006060|SNOMEDCT_US:38804009|SNOMEDCT_US:205681004|MSH:D006059|SNOMEDCT_US:95219002|SNOMEDCT_US:83579008 Mixed gonadal dysgenesis|Pure gonadal dysgenesis HP:0025434 Reduced hemolytic complement activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025434 Reduced CH50 A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum. HP:0000136 Bifid uterus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000136 UMLS:C1850327 The presence of a bifid uterus. HP:0001468 Aplasia/Hypoplasia involving the musculature of the upper arm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001468 UMLS:C4025769 Absent/underdeveloped upper arm muscles|Absent/small upper arm muscles Absence or underdevelopment of the muscles of the upper arm. HP:0025435 Increased lactate dehydrogenase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025435 An elevated level of the enzyme lactate dehydrogenase in serum. HP:0001469 Abnormal morphology of the pelvis musculature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001469 UMLS:C4025768 Abnormality of the musculature of the pelvis HP:0000135 Hypogonadism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000135 SNOMEDCT_US:48130008|UMLS:C0020619|MSH:D007006 Decreased activity of gonads A decreased functionality of the gonad. HP:0025436 Elevated serum 11-deoxycortisol biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025436 Elevated serum 21-hydroxyprogesterone|Elevated serum deoxycorticosterone Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone. HP:0000138 Ovarian cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000138 UMLS:C0029927|SNOMEDCT_US:79883001|MSH:D010048 Ovarian cystic abnormality|Cystic ovaries|Ovarian cyst|Cystic abnormalities of the ovaries The presence of one or more cysts of the ovary. HP:0002797 Osteolysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002797 UMLS:C0221204|SNOMEDCT_US:30425001|MSH:D010014|SNOMEDCT_US:203522001 Breakdown of bone|Increased bone resorption|Osteolytic defects of bones Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. HP:0001466 Contiguous gene syndrome biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001466 UMLS:C1855496 HP:0025437 Macrocephalic sperm head biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025437 Increased size of the head of sperm. HP:0000137 Abnormality of the ovary biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000137 MSH:D010049|SNOMEDCT_US:5552004|UMLS:C4021818|UMLS:C0029928 Ovarian disease|Abnormality of the ovaries|Abnormality of the ovary An abnormality of the ovary. HP:0001467 Aplasia/Hypoplasia involving the musculature of the upper limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001467 UMLS:C4025770 Absent/small upper limb muscles|Absent/underdeveloped upper limb muscles Absence or underdevelopment of the musculature of the upper limbs. HP:0012129 Abnormality of bone marrow stromal cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012129 UMLS:C4023034 HP:0001460 Aplasia/Hypoplasia involving the skeletal musculature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001460 UMLS:C4025773 Absent/small skeletal muscles|Absent/underdeveloped skeletal muscles Absence or underdevelopment of the musculature. HP:0002791 Hypoventilation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002791 SNOMEDCT_US:15993004|MSH:D012131|SNOMEDCT_US:80954004|SNOMEDCT_US:31515003|MSH:D007040|UMLS:C0235063|UMLS:C3203358 Slow breathing|Respiratory depression|Under breathing|Alveolar 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). HP:0002792 Reduced vital capacity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002792 UMLS:C0520831|SNOMEDCT_US:274715008|UMLS:C0476408|SNOMEDCT_US:607007 Decreased vital capacity An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung. HP:0000130 Abnormality of the uterus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000130 UMLS:C0266383|MSH:C562565|SNOMEDCT_US:37849005 Uterine malformations|Uterine abnormalities|Abnormality of the uterus An abnormality of the uterus. HP:0002790 Neonatal breathing dysregulation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002790 UMLS:C3806216 Impaired breathing in newborn HP:0025430 High-pitched cry biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025430 A type of crying in an abnormally high-pitched voice. HP:0012110 Hypoplasia of the pons biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012110 UMLS:C1848529 Pontine hypoplasia Underdevelopment of the pons. HP:0012111 Abnormality of circulating glucocorticoid level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012111 UMLS:C4023038 An abnormality of the concentration of a glucocorticoid in the blood. HP:0012112 Abnormal circulating corticosterone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012112 UMLS:C4023037 Abnormality of circulating corticosterone level An abnormality of the concentration of corticosterone in the blood. HP:0012113 Abnormal circulating creatine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012113 UMLS:C4020731 Creatine metabolism abnormal|Abnormality of creatine metabolism A deviation from the normal concentration of creatine in the blood circulation. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells. HP:0012114 Endometrial carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012114 UMLS:C0476089|SNOMEDCT_US:254878006|MSH:D016889 A carcinoma of the endometrium, the mucous lining of the uterus. HP:0012115 Hepatitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012115 MSH:D006505|UMLS:C0019158|SNOMEDCT_US:128241005 Liver inflammation Inflammation of the liver. HP:0012116 Abnormal circulating albumin concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012116 UMLS:C4023036 Abnormal albumin level Deviation from normal concentration of albumin in the blood. HP:0012117 Hyperalbuminemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012117 UMLS:C1142113|SNOMEDCT_US:119248009 Hyperalbuminaemia|High albumin|High blood albumin levels Elevation in the concentration of albumin in the blood. HP:0025428 Bronchospasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025428 A spasm (sudden, involuntary constriction) of the bronchioles. HP:0025429 Abnormal cry biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025429 Any anomaly of the vocalizing of an infant's crying, i.e.,the typically loud voice production that is accompanied by tears and agitation. HP:0000143 Rectovaginal fistula biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000143 SNOMEDCT_US:65619001|UMLS:C0034895|MEDDRA:10051097|MSH:D012006 Abnormal connection between rectum and vagina The presence of a fistula between the vagina and the rectum. HP:0025420 Diffuse alveolar hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025420 Diffuse alveolar haemorrhage A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen. HP:0001475 Male-limited autosomal dominant biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001475 UMLS:C4025764 HP:0025421 Pneumomediastinum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025421 The presence of free air in the mediastinum. HP:0001476 Delayed closure of the anterior fontanelle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001476 SNOMEDCT_US:295091000119100|UMLS:C4072831|UMLS:C3840083 Late closure of the bregma sutures|Delayed closure of the bregma sutures|Delayed closure anterior fontanel|Late closure of large anterior fontanel|Persistent anterior fontanelle|Late closure of soft spot on the skull|Late closure of anterior fontanelle|Delayed closure of anterior fontanelle|Delayed closure of the soft spot on the skull|Later than typical closing of soft spot of skull A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life. HP:0000142 Abnormal vagina morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000142 UMLS:C1856023 Vaginal malformation Any structural abnormality of the vagina. HP:0001473 Metatarsal osteolysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001473 UMLS:C1854614 Osteolysis involving metatarsal bones Osteolysis involving metatarsal bones. HP:0000145 Transverse vaginal septum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000145 UMLS:C1856006 Transverse vaginal membrane HP:0025422 Pleural cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025422 A closed sac-like structure originating from the pleura that contains a liquid, gaseous, or semisolid substance. HP:0001474 Sclerotic scapulae biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001474 UMLS:C1849263 Increased density of the bony tissue of the scapula. HP:0000144 Decreased fertility biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000144 SNOMEDCT_US:17276009|UMLS:C0520927 Abnormal fertility|Decreased fertility HP:0025423 Abnormal larynx morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025423 Any anomaly of the structure of the larynx. HP:0025424 Abnormal larynx physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025424 Any anomaly of the function of the larynx. HP:0000147 Polycystic ovaries biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000147 MSH:D011085|SNOMEDCT_US:69878008|UMLS:C0032460|UMLS:C1136382 Polycystic ovary|Sclerocystic ovaries|Polycystic ovary disease HP:0025425 Laryngospasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025425 A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe. HP:0001477 Compensatory chin elevation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001477 UMLS:C1846911 Compensatory head tilt/chin elevation A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement. HP:0025426 Abnormal bronchus morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025426 Abnormality of the bronchi Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs. HP:0000149 Ovarian gonadoblastoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000149 UMLS:C1518716|SNOMEDCT_US:716594002|NCIT:C3754 Gonadoblastoma, female The presence of a gonadoblastoma of the ovary. HP:0025427 Abnormal bronchus physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025427 Any anomaly of the function of the bronchi. HP:0000148 Vaginal atresia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000148 SNOMEDCT_US:87380008|UMLS:C1321884 Abnormally closed or absent vagina Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion. HP:0012118 Laryngeal carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012118 UMLS:C0595989|SNOMEDCT_US:276975007 Cancer of the larynx|Laryngeal cancer A carcinoma of the larynx. HP:0012119 Methemoglobinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012119 SNOMEDCT_US:131171006|UMLS:C0025637|SNOMEDCT_US:38959009|MSH:D008708 Abnormally increased levels of methemoglobin in the blood. In this form of hemoglobin, there is an oxidized ferric iron (Fe +3) rather than the reduced ferrous form (Fe 2+) that is normally found in hemoglobin. Methemoglobin has a reduced affinity for oxygen, resulting in a reduced ability to release oxygen to tissues. HP:0001471 Aplasia/Hypoplasia of the musculature of the pelvis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001471 UMLS:C4025766 Absent/small pelvis muscles|Absent/underdeveloped pelvis muscles HP:0001472 obsolete Familial predisposition biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001472 HP:0000141 Amenorrhea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000141 UMLS:C2219717 Abnormal absence of menstruation Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months. HP:0000140 Abnormality of the menstrual cycle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000140 UMLS:C3549779|UMLS:C4025888 Abnormality of the menstrual cycle|Menstrual abnormalities An abnormality of the ovulation cycle. HP:0001470 Sex-limited autosomal dominant biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001470 UMLS:C4025767 HP:0001604 Vocal cord paresis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001604 SNOMEDCT_US:302912005|UMLS:C1843187|UMLS:C1853729|UMLS:C0751576|MSH:D014826|SNOMEDCT_US:445424004|UMLS:C1832690 Vocal cord paresis in severe cases|Hoarse voice due to vocal cord paresis|Weakness of the vocal cords Decreased strength of the vocal folds. HP:0002936 Distal sensory impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002936 UMLS:C1847584 Distal sensory loss|Distal sensory impairment in lower limbs|Loss of distal sensation|Decreased sensation in extremities|Decreased distal sensation|Distal sensory impairment of the lower extremities|Distal sensory loss, upper and lower limbs|Distal sensation loss An abnormal reduction in sensation in the distal portions of the extremities. HP:0001605 Vocal cord paralysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001605 SNOMEDCT_US:302912005|UMLS:C1854345|MSH:D014826|UMLS:C0042928 Laryngeal paralysis|Inability to move vocal cords A loss of the ability to move the vocal folds. HP:0001602 Laryngeal stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001602 UMLS:C0023075|MSH:D007829|SNOMEDCT_US:75547007 Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing. HP:0002933 Ventral hernia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002933 UMLS:C0019326|SNOMEDCT_US:414396006|MSH:D006555 Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall. HP:0001608 Abnormality of the voice biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001608 UMLS:C4021776 Voice abnormality|Abnormality of the voice HP:0001609 Hoarse voice biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001609 UMLS:C0019825|SNOMEDCT_US:50219008|MSH:D006685|UMLS:C1854348 Husky voice|Hoarseness|Hoarse voice Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. HP:0002937 Hemivertebrae biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002937 SNOMEDCT_US:68359008|UMLS:C0265677 Missing part of vertebrae|Hemivertebra|Hemi-vertebrae Absence of one half of the vertebral body. HP:0001606 obsolete Vocal cord paralysis (caused by tumor impingement) biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001606 HP:0002938 Lumbar hyperlordosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002938 UMLS:C1184923 Lumbar lordosis|Excessive inward curvature of lower spine|Increased lumbar lordosis|Prominent lumbar lordosis|Exaggerated lumbar lordosis An abnormal accentuation of the inward curvature of the spine in the lumbar region. HP:0001607 Subglottic stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001607 UMLS:C0238441|SNOMEDCT_US:22668006 HP:0001600 Abnormality of the larynx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001600 UMLS:C4021777 Laryngeal anomalies|Laryngeal abnormalities An abnormality of the larynx. HP:0002932 Aldehyde oxidase deficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002932 SNOMEDCT_US:124161002|UMLS:C1291266 A reduction in aldehyde oxidase level. HP:0001601 Laryngomalacia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001601 MSH:D055092|SNOMEDCT_US:38086007|UMLS:C0264303 Softening of voice box tissue Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration. HP:0002930 Impaired sensitivity to thyroid hormone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002930 SNOMEDCT_US:237559000|SNOMEDCT_US:50375007|SNOMEDCT_US:111567006|MSH:D018382|UMLS:C2940786|SNOMEDCT_US:237560005 Elevated serum levels of free thyroid hormone with nonsuppressed TSH|Thyroid hormone resistance|End-organ unresponsiveness to thyroid hormone|Resistance to thyroid hormone|Thyroid hormone receptor defect Reduced sensitivity of end organs to thyroid hormone characterized by elevated serum levels of free thyroid hormone with nonsuppressed thyroid stimulating hormone. HP:0002946 Supernumerary vertebrae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002946 SNOMEDCT_US:87294007|UMLS:C0265681 HP:0001615 Hoarse cry biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001615 UMLS:C2678303 Hoarse cry HP:0002947 Cervical kyphosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002947 UMLS:C0575170|SNOMEDCT_US:298393001 Rounded neck Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance. HP:0001613 obsolete Hoarse voice (caused by tumor impingement) biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001613 HP:0002944 Thoracolumbar scoliosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002944 UMLS:C0749379 Scoliosis, thoracolumbar HP:0002945 Intervertebral space narrowing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002945 UMLS:C0263870|SNOMEDCT_US:11301007 Narrow intervertebral spaces|Narrow intervertebral disc spaces Decreased height of the intervertebral disk. HP:0002948 Vertebral fusion biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002948 UMLS:C1849073|UMLS:C1835763|UMLS:C3278509 Fusion of vertebral bodies|Spinal fusion|Vertebral body fusion|Fused vertebrae A developmental defect leading to the union of two adjacent vertebrae. HP:0002949 Fused cervical vertebrae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002949 UMLS:C3887527 Cervical vertebral fusion|Fusion of cervical vertebrae|Cervical spine fusion|Fused neck A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another. HP:0001618 Dysphonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001618 UMLS:C1527344|SNOMEDCT_US:47004009|MSH:D055154 Inability to produce voice sounds An impairment in the ability to produce voice sounds. HP:0001611 Nasal speech biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001611 UMLS:C0566620|UMLS:C0454555|SNOMEDCT_US:229645001|SNOMEDCT_US:289190003 Hypernasal speech|Nasal voice|Hypernasal voice|Nasal speech A type of speech characterized by the presence of an abnormally increased nasal airflow during speech. HP:0002942 Thoracic kyphosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002942 UMLS:C1184919 Exaggerated thoracic kyphosis|Accentuated thoracic kyphosis Over curvature of the thoracic region, leading to a round back or if sever to a hump. HP:0001612 Weak cry biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001612 UMLS:C0234860|SNOMEDCT_US:2120003 HP:0002943 Thoracic scoliosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002943 UMLS:C1857790 HP:0002919 Ketonuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002919 UMLS:C0162275|MSH:D007662|SNOMEDCT_US:274783007|SNOMEDCT_US:36815008 Acetonuria|Ketonaciduria|Ketoaciduria|Ketone bodies in urine High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state. HP:0002913 Myoglobinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002913 UMLS:C0027080|MSH:D009212|SNOMEDCT_US:48165008 Presence of myoglobin in the urine. HP:0002914 Hyperchloriduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002914 UMLS:C1846352 Increased urinary chloride An increased concentration of chloride in the urine. HP:0002912 Methylmalonic acidemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002912 UMLS:C0268583|MSH:C537358|SNOMEDCT_US:42393006 Elevated circulating methylmalonic acid concentration Increased concentration of methylmalonic acid in the blood. HP:0002917 Hypomagnesemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002917 SNOMEDCT_US:190855004|UMLS:C0151723 Low blood Mg levels|Low blood magnesium levels An abnormally decreased magnesium concentration in the blood. HP:0002918 Hypermagnesemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002918 SNOMEDCT_US:66978005|UMLS:C0151714 High blood Mg levels|High blood magnesium levels An abnormally increased magnesium concentration in the blood. HP:0002916 Abnormality of chromosome segregation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002916 UMLS:C4025670 An abnormality of chromosome segregation. HP:0002910 Elevated hepatic transaminase biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002910 UMLS:C0877359|SNOMEDCT_US:166603001|UMLS:C1842003|UMLS:C0151766|UMLS:C0235996|UMLS:C0086565|UMLS:C1848701|UMLS:C0438237|UMLS:C0438717|MSH:D008107|SNOMEDCT_US:166643006|SNOMEDCT_US:75183008 Elevated liver function tests|Increased liver function tests|Abnormal liver enzymes|Raised liver enzymes|Increased transaminases|Abnormal liver function tests|Elevated transaminases|Increased liver enzymes|Elevated serum transaminases|Elevated liver enzymes|Subclinical abnormal liver function tests|High liver enzymes|Abnormal liver function Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. HP:0002924 obsolete Decreased circulating aldosterone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002924 HP:0002925 Increased thyroid-stimulating hormone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002925 UMLS:C0586553|SNOMEDCT_US:309080005 Elevated thyroid stimulating hormone levels|High TSH|Increased thyroid-stimulating hormone|Increased serum thyroid-stimulating hormone|Increased thyrotropin level|Elevated thyroid stimulating hormone|Thyroid-stimulating hormone excess|TSH excess Overproduction of thyroid-stimulating hormone (TSH) by the anterior pituitary gland. HP:0002922 Increased CSF protein biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002922 UMLS:C1806780 Spinal fluid protein elevated|Elevated csf protein|Increased protein in csf|Hyperproteinorrhachia|Elevated cerebrospinal fluid protein|Cerebrospinal fluid protein increased|Cerebrospinal fluid with increased protein Increased concentration of protein in the cerebrospinal fluid. HP:0002923 Rheumatoid factor positive biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002923 UMLS:C0151379|SNOMEDCT_US:165839004 The presence in the serum of an autoantibody directed against the Fc portion of IgG. HP:0002928 Decreased activity of the pyruvate dehydrogenase complex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002928 UMLS:C1839888 Pyruvate dehydrogenase complex deficiency|Decreased activity of the PDH complex HP:0002929 Leydig cell insensitivity to gonadotropin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002929 UMLS:C4025668 HP:0002926 Abnormality of thyroid physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002926 UMLS:C0857576 Abnormal thyroid function An abnormal functionality of the thyroid gland. HP:0002927 Histidinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002927 UMLS:C0268642|MSH:C538321|SNOMEDCT_US:78311009 High urine histidine levels|Elevated histidine in urine An increased concentration of histidine in the urine. HP:0002920 Decreased circulating ACTH level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002920 UMLS:C4025669 An abnormal reduction in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood. HP:0002921 Abnormality of the cerebrospinal fluid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002921 UMLS:C0151583 Abnormal CSF findings|Abnormality of the CSF An abnormality of the cerebrospinal fluid (CSF). HP:0012300 Ureteral agenesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012300 UMLS:C4022959 Failure of the ureter to undergo development. HP:0012301 Type II transferrin isoform profile biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012301 UMLS:C4021094 Abnormal isoelectric focusing of serum transferrin, type II pattern|Isoelectric focusing of serum transferrin consistent with CDG type II|Type 2 transferrin isoform profile|Abnormal isoelectric focusing of serum transferrin, type 2 pattern Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation. HP:0012302 Herpes simplex encephalitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012302 SNOMEDCT_US:428638009|UMLS:C0276226|MSH:D020803 A severe virus infection of the central nervous system by the herpes simplex virus (HSV). HP:0012303 Abnormal aortic arch morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012303 SNOMEDCT_US:448742006|UMLS:C3163801|Fyler:2700 Abnormality of the aortic arch An anomaly of the arch of aorta. HP:0012304 Hypoplastic aortic arch biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012304 SNOMEDCT_US:60787001|Fyler:2704|UMLS:C0265881 Aortic arch hypoplasia|Underdeveloped aortic arch Underdevelopment of the arch of aorta. HP:0000316 Hypertelorism biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000316 UMLS:C0020534|SNOMEDCT_US:22006008|MSH:D006972|SNOMEDCT_US:194021007 Increased distance between eye sockets|Ocular hypertelorism|Increased interpupillary distance|Widened interpupillary distance|Wide-set eyes|Increased distance between eyes|Excessive orbital separation|Widely spaced eyes Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). HP:0001648 Cor pulmonale biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001648 SNOMEDCT_US:274096000|MSH:D011660|UMLS:C0034072|SNOMEDCT_US:83291003 Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle. HP:0025615 Abscess biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025615 HP:0002979 Bowing of the legs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002979 MSH:D056305|UMLS:C0544755|SNOMEDCT_US:299331007 Bowed lower limbs|Bow legs|Bowed legs|Bow-leggedness A bending or abnormal curvature affecting a long bone of the leg. HP:0001649 Tachycardia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001649 SNOMEDCT_US:86651002|UMLS:C4020868|SNOMEDCT_US:3424008|MSH:D013610|UMLS:C0039231 Heart racing|Racing heart|Increased heart rate|Rapid heart beat|Elevated heart rate|Fast heart rate A rapid heartrate that exceeds the range of the normal resting heartrate for age. HP:0025616 Sterile abscess biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025616 An abscess not caused by infection with pyogenic bacteria. Operationally, a sterile abscess is inferred if investigations of an abscess fail to reveal evidence of pathogenic organisms. HP:0000315 Abnormality of the orbital region biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000315 UMLS:C4025863 Abnormality of the region around the eyes|Malformation of the orbital region of the face|Deformity of the orbital region of the face|Abnormality of the eye region|Anomaly of the orbital region of the face HP:0002977 Aplasia/Hypoplasia involving the central nervous system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002977 UMLS:C4025665 Absent/underdeveloped central nervous system tissue|Aplasia/Hypoplasia involving the CNS Absence or underdevelopment of tissue in the central nervous system. HP:0025617 Abnormal plasma cell count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025617 An abnormal number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies. HP:0001646 Abnormal aortic valve morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001646 Fyler:1408|Fyler:1400|SNOMEDCT_US:448743001|UMLS:C3164445 Abnormality of the aortic valve Any abnormality of the aortic valve. HP:0000317 Facial myokymia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000317 MSH:D005155|UMLS:C0270871|SNOMEDCT_US:1070000 Involuntary facial contraction|Involuntary facial quivering Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve). HP:0025618 Reduced plasma cell count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025618 An abnormally low number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies. HP:0001647 Bicuspid aortic valve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001647 SNOMEDCT_US:72352009|MSH:C562388|UMLS:C0149630 Aortic valve has two leaflets rather than three 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). HP:0025619 Elevated plasma cell count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025619 An abnormally high number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies. HP:0000319 Smooth philtrum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000319 UMLS:C1142533 Philtrum, smooth|Shallow philtrum|Simple philtrum|Decreased depth of philtrum|Indistinct philtrum|Flat philtrum Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border. HP:0001640 Cardiomegaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001640 UMLS:C0018800|MSH:D006332|SNOMEDCT_US:8186001 Enlarged heart|Increased heart size Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography. HP:0002971 Absent microvilli on the surface of peripheral blood lymphocytes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002971 UMLS:C1833173 Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes. HP:0002972 Reduced delayed hypersensitivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002972 UMLS:C1843386 Deficiency of delayed skin hypersensitivity|Decreased reactivity to skin test antigens|Impaired delayed hypersensitivity Decreased ability to react to a delayed hypersensitivity skin test. HP:0001641 Abnormal pulmonary valve morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001641 Fyler:1600|UMLS:C3164374|Fyler:1602|SNOMEDCT_US:448643005 Abnormality of the pulmonary valve|Anomaly of the pulmonary valve Any structural abnormality of the pulmonary valve. HP:0002970 Genu varum biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002970 MSH:D056305|SNOMEDCT_US:299331007|UMLS:C0544755 Genu vara|Outward bow-leggedness|Outward bowing at knees|Genua vara 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. HP:0025610 Posterior blepharitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025610 Meibomian gland dysfunction|Meibomian gland disease 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. HP:0001644 Dilated cardiomyopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001644 Fyler:1843|MSH:D002311|SNOMEDCT_US:399020009|SNOMEDCT_US:195021004|UMLS:C0007193 DCM|Congestive cardiomyopathy|Stretched and thinned heart muscle|Cardiomyopathy, dilated Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis. HP:0025611 Epicanthus superciliaris biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025611 A type of epicanthus in which more extensive epicanthal folds with their origins in the eyebrow cover, pass in front of and lateral to the medial canthus (middle corner of the eye). HP:0001645 Sudden cardiac death biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001645 UMLS:C0085298|MSH:D016757|SNOMEDCT_US:95281009 Sudden cardiac death|Premature sudden cardiac death The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset). HP:0000311 Round face biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000311 UMLS:C1856468|UMLS:C0239479 Round facial shape|Circular face|Round face|Round facies|Round, full face|Round facial appearance The facial appearance is more circular than usual as viewed from the front. HP:0025612 Corneal astigmatism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025612 A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea. HP:0001642 Pulmonic stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001642 SNOMEDCT_US:56786000|MSH:D011666|Fyler:1611|UMLS:C1956257 Pulmonary valve stenosis|Pulmonary stenosis|Pulmonic valve stenosis|Narrowing of pulmonic valve A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis). HP:0025613 Focal emotional seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025613 Partial emotional seizure|Affective seizure|Emotional seizure|Focal affective 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. HP:0002973 Abnormality of the forearm biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002973 UMLS:C4025666 Abnormality of the forearm An abnormality of the lower arm. HP:0001643 Patent ductus arteriosus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001643 SNOMEDCT_US:83330001|UMLS:C0013274|MSH:D004374|Fyler:2100 Ductus arteriosus|PDA|Persistent ductus arteriosus|Persistent arterial duct 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. HP:0002974 Radioulnar synostosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002974 UMLS:C0158761|MSH:C562408|SNOMEDCT_US:33313004|MEDDRA:10037798 Fused forearm bones An abnormal osseous union (fusion) between the radius and the ulna. HP:0012305 Coarctation of the descending aortic arch biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012305 UMLS:C4022958 Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta. HP:0012306 Abnormal rib ossification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012306 UMLS:C4022957 Abnormal maturation of rib bones An anomaly of the process of rib bone formation. HP:0012307 Spatulate ribs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012307 UMLS:C1856637 Ribs that are increased in width and taper to the posterior ends. HP:0012308 Decreased serum complement C9 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012308 UMLS:C4021093 Decreased serum C9 A reduced level of the complement component C9 in circulation. HP:0012309 Cutaneous amyloidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012309 UMLS:C0268397|SNOMEDCT_US:282834007|SNOMEDCT_US:201337008|MSH:C562642|SNOMEDCT_US:281882003|SNOMEDCT_US:718105008 The presence of amyloid deposition in the superficial dermis. HP:0000327 Hypoplasia of the maxilla biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000327 UMLS:C4082243|UMLS:C4280643|UMLS:C4280642|UMLS:C4280641|UMLS:C4280640|UMLS:C0240310 Hypoplasia of upper jaw bones|Retrusion of upper jaw bones|Small upper jaw|Hypotrophic maxilla|Small upper jaw bones|Maxillary retrognathia|Deficiency of upper jaw bones|Maxillary retrusion|Decreased projection of upper jaw|Decreased size of maxilla|Small maxilla|Micromaxilla|Hypoplastic maxillary bones|Upper jaw retrusion|Upper jaw deficiency|Retrognathia of upper jaw|Hypotrophic upper jaw bones|Maxillary deficiency|Maxillary hypoplasia|Decreased size of upper jaw|Maxillary micrognathia|Decreased projection of 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. HP:0001659 Aortic regurgitation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001659 MSH:D001022|UMLS:C0003504|SNOMEDCT_US:60234000 Aortic valve regurgitation|Aortic insufficiency An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle. HP:0025604 Orbital schwannoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025604 A schwannoma (benign, usually encapsulated slow growing tumor composed of Schwann cells) located in the orbit. HP:0000326 Abnormality of the maxilla biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000326 UMLS:C4025862 Deformity of the maxilla|Abnormality of the upper jaw bone|Anomaly of the maxilla|Abnormality of the upper jaw bones|Malformation of the maxilla|Deformity of the upper jaw bones|Malformation of the upper jaw bones An abnormality of the Maxilla (upper jaw bone). HP:0025605 Lid lag on downgaze biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025605 von Graefe sign|Lid lag|Eyelid lag Delayed descent of the upper eyelid on downgaze. Also described by some authors as von Graefe sign. HP:0000329 Facial hemangioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000329 UMLS:C1861443 Facial hemangiomata Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face. HP:0001657 Prolonged QT interval biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001657 SNOMEDCT_US:111975006|UMLS:C0151878 Long QT syndrome|Prolong qt interval on ekg|Long Q-T syndrome Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). HP:0025606 Abnormal medial rectus muscle physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025606 A functional anomaly of the medial rectus muscle, an extraocular muscle that is innervated by the inferior division of the oculomotor nerve and whose sole action is the adduction of the eyeball. HP:0001658 Myocardial infarction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001658 MSH:D009203|SNOMEDCT_US:22298006|UMLS:C0027051 Heart attack|MI 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. HP:0025607 Upper eyelid entropion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025607 An inward turning (inversion) of the margin of the upper eyelid. HP:0025608 Cicatricial ectropion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025608 An outward turning (eversion) or rotation of the eyelid margin (i.e., ectropion) caused by shortening or contraction of the anterior or middle lamellae related to scarring. HP:0025609 Anterior blepharitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025609 A type of blepharitis that affects the eyelid skin, base of the eyelashes, and the eyelash follicles. HP:0001651 Dextrocardia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001651 UMLS:C0011813|EPCC:02.01.02|SNOMEDCT_US:27637000|MSH:D003914|ICD-10:Q24.0|Fyler:110|Fyler:0110 Thoracic situs inversus|Heart tip and four chambers point towards right side of body The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left. HP:0002982 Tibial bowing biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002982 UMLS:C1837081 Bowed shankbone|Bowed tibia|Bowed shinbone|Bowing of the tibia A bending or abnormal curvature of the tibia. HP:0002983 Micromelia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002983 UMLS:C0025995|SNOMEDCT_US:74370006|MEDDRA:10027546 Smaller or shorter than typical limbs The presence of abnormally small extremities. HP:0000321 Square face biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000321 UMLS:C1832127 Square facies|Square facial shape|Square face Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance. HP:0002980 Femoral bowing biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002980 UMLS:C1859461 Bowed femurs|Bowed femura|Bowed thighbone|Bowed femur Bowing (abnormal curvature) of the femur. HP:0001650 Aortic valve stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001650 Fyler:1411|SNOMEDCT_US:60573004|UMLS:C0003507|MSH:D001024 Valvular aortic stenosis|Narrowing of aortic valve|Aortic stenosis The presence of a stenosis (narrowing) of the aortic valve. HP:0002981 Abnormality of the calf biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002981 UMLS:C4021832 Abnormality of the calf An abnormality of the calf, i.e. of the posterior part of the lower leg. HP:0000320 Bird-like facies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000320 UMLS:C1837758 Bird-like facial appearance HP:0002986 Radial bowing biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002986 UMLS:C1859399 Bowed radii|Bowing of outer large bone of the forearm|Bowing of radius bone of the forearm|Bowed radius A bending or abnormal curvature of the radius. HP:0025600 Abnormal inferior rectus muscle physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025600 A functional anomaly of the inferior rectus muscle, which is innervated by the inferior division of oculomotor nerve and functions in the depression, adduction, and lateral rotation (extortion) of the eye. HP:0001655 Patent foramen ovale biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001655 UMLS:C0016522|Fyler:2020|SNOMEDCT_US:204317008|ICD-10:Q21.1|MSH:D054092 Persistent foramen ovale Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria. HP:0002987 Elbow flexion contracture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002987 UMLS:C0409338|SNOMEDCT_US:202271004 Fixed flexion at the elbow joint|Contracture of elbow joint|Contractures of the elbows|Elbow contractures|Contractures of elbows|Elbow contracture|Elbow flexion deformity|Elbow flexion contractures A chronic loss of elbow joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the elbow. HP:0000322 Short philtrum biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000322 UMLS:C1861324 Decreased vertical dimension of philtrum|Decreased height of philtrum|Decreased length of philtrum|Vertical hypoplasia of philtrum Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border. HP:0025601 Inferior rectus muscle weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025601 Decreased strength of the inferior rectus muscle. HP:0025602 Inferior rectus muscle restriction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025602 Mechanical limitation of the range of movement of the inferior rectus muscle. HP:0000325 Triangular face biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000325 UMLS:C1835884 Face with broad temples and narrow chin|Triangular facial shape|Triangular facies|Triangular face Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. HP:0002984 Hypoplasia of the radius biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002984 SNOMEDCT_US:205170001|UMLS:C1840087|SNOMEDCT_US:93288001|UMLS:C0685381 Hypoplastic radii|Short radii|Shortening of radius|Radial ray hypoplasia|Underdeveloped outer large forearm bone|Radial hypoplasia|Hypoplastic radius|Short radius Underdevelopment of the radius. HP:0001653 Mitral regurgitation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001653 Fyler:1151|UMLS:C0026266|SNOMEDCT_US:48724000|MSH:D008944|UMLS:C3551535 Mitral regurgitation, mild|Mitral incompetence|Mitral valve regurgitation|Mitral valve insufficiency|Mitral insufficiency An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction. HP:0000324 Facial asymmetry biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000324 MSH:D005146|UMLS:C1306710|SNOMEDCT_US:15253005 Facial asymmetry|Unbalanced face|Asymmetry of face|Asymmetry of right and left side of face|Crooked face|Asymmetric facies|Uneven face|Uneven sides of face|Unsymmetrical face|Unequal sides of face An abnormal difference between the left and right sides of the face. HP:0025603 Abnormal superior rectus muscle physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025603 A functional anomaly of the superior rectus muscle, an extraocular muscle that is innervated by the superior division of the oculomotor nerve, and whose primary function is the elevation of the globe. HP:0001654 Abnormal heart valve morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001654 UMLS:C0018824|SNOMEDCT_US:368009|MSH:D006349|UMLS:C0241654 Valvular heart disease|Valvular abnormality|Abnormality of the heart valves Any structural abnormality of a cardiac valve. HP:0001626 Abnormality of the cardiovascular system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001626 SNOMEDCT_US:49601007|UMLS:C0007222|MSH:D018376|UMLS:C0243050|MSH:D002318 Abnormality of the cardiovascular system|Cardiovascular disease|Cardiovascular abnormality Any abnormality of the cardiovascular system. HP:0002958 Immune dysregulation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002958 UMLS:C1844666 Unregulated immune response|Immune dysregulation Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications. HP:0001627 Abnormal heart morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001627 UMLS:C0018798|MSH:D006330|SNOMEDCT_US:13213009|UMLS:C0152021 Heart defect|Cardiac abnormality|Cardiac anomalies|Congenital heart defects|Abnormality of cardiac morphology|Congenital heart defect|Abnormally shaped heart|Abnormality of the heart|Cardiac anomaly Any structural anomaly of the heart. HP:0002955 Granulomatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002955 UMLS:C0521173|SNOMEDCT_US:443138004|SNOMEDCT_US:44328006 A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity. HP:0002959 Impaired Ig class switch recombination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002959 UMLS:C1842528 Impaired B-lymphocyte isotype switching An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE. HP:0001629 Ventricular septal defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001629 SNOMEDCT_US:30288003|UMLS:C0018818|SNOMEDCT_US:253549006|MSH:D006345|Fyler:1300 Hole in heart wall separating two lower heart chambers|VSD|Ventricular septal defects|Ventriculoseptal 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. HP:0002953 Vertebral compression fractures biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002953 UMLS:C0410550|SNOMEDCT_US:42942008|UMLS:C0262431|SNOMEDCT_US:84138006 Vertebral collapse|Vertebral compression|Vertebral body compression|Fractures of vertebral bodies|Compression fracture|Vertebral compression or collapse HP:0001622 Premature birth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001622 UMLS:C0233315|SNOMEDCT_US:49550006|UMLS:C0151526|MSH:D047928|SNOMEDCT_US:282020008|SNOMEDCT_US:367494004 Shortened gestation time|Premature delivery of affected infants|Premature delivery|Premature birth|Preterm delivery The birth of a baby of less than 37 weeks of gestational age. HP:0001623 Breech presentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001623 MSH:D001946|UMLS:C0006157|SNOMEDCT_US:6096002|SNOMEDCT_US:249101006 Feet or buttocks of fetus positioned near opening of uterus|Breech presentation at birth A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first. HP:0001620 High pitched voice biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001620 UMLS:C0241703|SNOMEDCT_US:51406002 High-pitched voice|High pitched voice An abnormal increase in the pitch (frequency) of the voice. HP:0002951 Partial absence of cerebellar vermis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002951 UMLS:C4025667 Congenital absence of a part of the vermis of cerebellum. HP:0001621 Weak voice biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001621 SNOMEDCT_US:34527004|SNOMEDCT_US:8614008|MSH:D014832|UMLS:C0241700|UMLS:C0521007 Hypophonia|Soft voice|Weak voice Reduced intensity (volume) of speech. HP:0001637 Abnormal myocardium morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001637 UMLS:C4025758 Abnormality of the myocardium A structural anomaly of the muscle layer of the heart wall. HP:0001638 Cardiomyopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001638 SNOMEDCT_US:85898001|UMLS:C0878544|SNOMEDCT_US:57809008|MSH:D009202|Fyler:1840 Disease of the heart muscle A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. HP:0001635 Congestive heart failure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001635 SNOMEDCT_US:42343007|SNOMEDCT_US:84114007|MSH:D006333|UMLS:C0018802|UMLS:C0018801 Chronic heart failure|Cardiac insufficiency|Heart failure|Cardiac failures|Cardiac failure|CHF The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. HP:0000307 Pointed chin biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000307 UMLS:C1844505 Pointy chin|Small pointed chin|Witch's chin|Pointed mention region|Pointed chin A marked tapering of the lower face to the chin. HP:0001636 Tetralogy of Fallot biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001636 ICD-10:Q21.3|UMLS:C0039685|SNOMEDCT_US:86299006|MSH:D013771 Tetrology of fallot A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present. HP:0000306 Abnormality of the chin biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000306 UMLS:C4025864 Malformation of the chin|Deformity of the chin|Abnormality of the menton|Abnormality of the chin|Anomaly 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. HP:0002967 Cubitus valgus biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002967 SNOMEDCT_US:54583007|UMLS:C0158465 Outward turned elbows Abnormal positioning in which the elbows are turned out. HP:0000309 Abnormality of the midface biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000309 UMLS:C4021811 Malformation of the midface|Deformity of the midface|Abnormality of the midface|Anomaly 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. HP:0000308 Microretrognathia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000308 UMLS:C1839546 Retromicrognathia|Small retruded chin A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly. HP:0001639 Hypertrophic cardiomyopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001639 SNOMEDCT_US:45227007|MSH:D002312|UMLS:C0007194|SNOMEDCT_US:233873004 HCM|Enlarged and thickened heart muscle|Cardiomyopathy, hypertrophic Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality. HP:0002960 Autoimmunity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002960 SNOMEDCT_US:85828009|UMLS:C0004364|MSH:D001327 Autoimmune condition|Autoimmunity|Autoimmune disease|Autoimmune disorder The occurrence of an immune reaction against the organism's own cells or tissues. HP:0002961 Dysgammaglobulinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002961 UMLS:C0013374|MSH:D004406|SNOMEDCT_US:123782009 Selective deficiency of one or more, but not all, classes of immunoglobulins. HP:0001633 Abnormal mitral valve morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001633 UMLS:C4025759 Abnormality of the mitral valve Any structural anomaly of the mitral valve. HP:0000301 Abnormality of facial musculature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000301 UMLS:C4025865 Abnormality of facial muscles|Facial muscle issue An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve). HP:0000300 Oval face biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000300 UMLS:C1849025 Oval face|Oval facial shape|Oval facies A face with a rounded and slightly elongated outline. HP:0001634 Mitral valve prolapse biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001634 Fyler:1533|SNOMEDCT_US:409712001|SNOMEDCT_US:8074002|UMLS:C0026267|MSH:D008945 One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle. HP:0002965 Cutaneous anergy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002965 UMLS:C1855781 Absence of delayed hypersensitivity skin test|Lack of delayed skin hypersensitivity reaction Inability to react to a delayed hypersensitivity skin test. HP:0000303 Mandibular prognathia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000303 MSH:D008313|UMLS:C2227134|UMLS:C4280645|UMLS:C0302501|SNOMEDCT_US:109504005|UMLS:C4280644|UMLS:C0399526|SNOMEDCT_US:22810007 Increased size of mandible|Prognathism|Enlarged mandible|Prominent lower jaw|Large lower jaw|Prominent jaw|Increased projection of lower jaw|Mandibular excess|Hyperplasia of lower jaw|Prominent chin|Hypertrophy of lower jaw|Mandible prognathism|Relative mandibular prognathism|Mandibular hyperplasia|Prognathia|Mandibular prognathism|Enlargement of mandible|Large mandible|Increased projection of mandible|Macromandible|Increased size of lower jaw|Big mandible|Lower jaw excess|Prominent mandible|Big lower jaw|Hypertrophy of mandible|Mandibular macrognathia|Lower jaw hyperplasia Abnormal prominence of the chin related to increased length of the mandible. HP:0001631 Atrial septal defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001631 ICD-10:Q21.1|UMLS:C0018817|SNOMEDCT_US:405752007|SNOMEDCT_US:253366007|Fyler:2050|MSH:D006344|SNOMEDCT_US:70142008 Atrial septum defect|An opening in the wall separating the top two chambers of the heart|ASD|Atrioseptal defect|Atria septal defect|Defect in the atrial septum|Hole in heart wall separating two upper heart chambers Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. HP:0002963 Abnormal delayed hypersensitivity skin test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002963 UMLS:C1833172 Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter. HP:0002908 Conjugated hyperbilirubinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002908 SNOMEDCT_US:9326001|UMLS:C0268307 Direct hyperbilirubinemia HP:0002909 Generalized aminoaciduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002909 UMLS:C1847868 Generalized nonspecific aminoaciduria|Generalised aminoaciduria An increased concentration of all types of amino acid in the urine. HP:0002902 Hyponatremia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002902 MSH:D007010|SNOMEDCT_US:89627008|UMLS:C0020625 Low blood sodium levels An abnormally decreased sodium concentration in the blood. HP:0002900 Hypokalemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002900 MSH:D007008|SNOMEDCT_US:43339004|UMLS:C0020621|SNOMEDCT_US:166690008 Low blood potassium levels An abnormally decreased potassium concentration in the blood. HP:0002901 Hypocalcemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002901 UMLS:C0020598|SNOMEDCT_US:5291005|MSH:D006996 Low blood calcium levels|Hypocalcaemia An abnormally decreased calcium concentration in the blood. HP:0002907 Microscopic hematuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002907 SNOMEDCT_US:197940006|UMLS:C0239937 Occult hematuria|Small amount of blood in urine|Microhematuria Microscopic hematuria detected by dipstick or microscopic examination of the urine. HP:0002904 Hyperbilirubinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002904 SNOMEDCT_US:26165005|UMLS:C0311468 High blood bilirubin levels An increased amount of bilirubin in the blood. HP:0002905 Hyperphosphatemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002905 MSH:D054559|UMLS:C0553706|UMLS:C0085681|SNOMEDCT_US:20165001 High blood phosphate levels An abnormally increased phosphate concentration in the blood. OBO:hp#display_label display label biolink:OntologyClass hp http://purl.obolibrary.org/obo/hp#display_label HP:0012297 Slender proximal phalanx of finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012297 UMLS:C4022961 Slender innermost bone of finger Reduced diameter of the proximal phalanx of finger. HP:0012298 Long middle phalanx of finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012298 UMLS:C4022960 Long middle bone of finger Increased length of the middle phalanx of finger. HP:0012299 Long distal phalanx of finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012299 UMLS:C4021865 Long outermost bone of finger Increased length of the distal phalanx of finger. HP:0012290 Mouth neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012290 SNOMEDCT_US:126797001|MSH:D009062|SNOMEDCT_US:235075007|UMLS:C0026640|NCIT:C3262 Mouth tumor|Lesion of mouth|Neoplasm of the mouth A tumor (abnormal growth of tissue) of the mouth. HP:0012291 obsolete Tracheal neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012291 HP:0012292 Fusion of gums biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012292 UMLS:C4022966 Gingival synechia|Upper and lower gums fused together|Synechia of the gums|Fusion of gums|Partial fusion of the gums|Fusion of the gingiva A congenital defect with an abnormal joining of the gums of the upper and lower jaw. HP:0012293 Abnormal genital pigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012293 UMLS:C4022965 An abnormal pigmentation pattern of the external genitalia. HP:0012294 Abnormality of the occipital bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012294 UMLS:C4022964 Abnormality of the occipital bone of the skull. HP:0012295 Slender middle phalanx of finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012295 UMLS:C4022963 Slender middle bone of finger Reduced diameter of the middle phalanx of finger. HP:0012296 Slender distal phalanx of finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012296 UMLS:C4022962 Slender outermost bone of finger Reduced diameter of the distal phalanx of finger. HP:0012286 Abnormal hypothalamus morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012286 UMLS:C4021095 Abnormality of hypothalamus morphology|Abnormal shape of hypothalamus|Abnormality of the hypothalamus Any structural anomaly of the hypothalamus. HP:0012287 Hypothalamic luteinizing hormone-releasing hormone deficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012287 UMLS:C4022967 Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus. HP:0012288 Neoplasm of head and neck biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012288 UMLS:C0018671|SNOMEDCT_US:255056009|SNOMEDCT_US:255055008|MSH:D006258|UMLS:C0278996 Head and neck tumor|Head and neck cancer 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. HP:0012289 Facial neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012289 NCIT:C3262|SNOMEDCT_US:126632002|UMLS:C0015461|MSH:D005153 Face tumor A tumor (abnormal growth of tissue) of the face. HP:0012280 Hepatic amyloidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012280 UMLS:C0267839|SNOMEDCT_US:9551004 A form of amyloidosis that affects the liver. HP:0012281 Chylous ascites biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012281 MSH:D002915|UMLS:C0008732|SNOMEDCT_US:52985009 Chyloperitoneum Extravasation of chyle into the peritoneal cavity. HP:0012282 Morbilliform rash biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012282 SNOMEDCT_US:247470007|UMLS:C0234918|SNOMEDCT_US:50495000 An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days. HP:0012283 Small distal femoral epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012283 UMLS:C4022970 Small end part of outermost thighbone Reduced size of the Distal epiphysis of femur. HP:0012284 Small proximal tibial epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012284 UMLS:C4022969 Small end part of innermost shinbone|Small end part of innermost shankbone Reduced size of the proximal epiphysis of the tibia. HP:0012285 Abnormal hypothalamus physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012285 UMLS:C4022968 An abnormal functionality of the hypothalamus. HP:0000297 Facial hypotonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000297 UMLS:C4280646|UMLS:C1845251 Hypotonic facies|Low facial muscle tone|Atony of facial musculature|Reduced facial muscle tone|Decreased facial muscle tone Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve). HP:0025596 Abnormal inferior oblique muscle physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025596 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. HP:0025597 Inferior oblique muscle restriction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025597 Mechanical limitation of the range of movement of the inferior oblique muscle. HP:0025598 Inferior oblique muscle weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025598 Inferior oblique palsy Decreased strength of the inferior oblique muscle. HP:0000298 Mask-like facies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000298 SNOMEDCT_US:103606006|UMLS:C0424448 Expressionless face|Lack of facial expression|Amimia|Masklike facies|Mask-like facial appearance A lack of facial expression often with staring eyes and a slightly open mouth. HP:0025599 Inferior oblique muscle overaction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025599 A common ocular motility disorder characterized by vertical incomitance of the eyes in lateral gaze. In primary inferior oblique muscle overaction, an upshoot of the adducting eye occurs when gaze is directed into the field of action of the inferior oblique muscle, producing a greater upward excursion of the adducted eye than of the abducted eye. HP:0000291 Abnormality of facial adipose tissue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000291 UMLS:C4025866 Deformity of facial adipose tissue|Malformation of facial adipose tissue|Abnormality of facial fat HP:0025590 Abnormal extraocular muscle physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025590 A functional anomaly of the muscles of the eye. HP:0000290 Abnormality of the forehead biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000290 UMLS:C4025867 Deformity of the forehead|Malformation of the forehead|Abnormality of the frontal region of the face|Abnormality of the forehead|Anomaly of the forehead An anomaly of the forehead. HP:0025591 Abnormal superior oblique muscle physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025591 A functional anomaly of the superior oblique muscle, a fusiform muscle that originates in the upper, medial side of the orbit. The superior oblique muscle abducts, depresses and internally rotates the eye, and is the only extraocular muscle innervated by the fourth cranial nerve. HP:0000293 Full cheeks biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000293 UMLS:C4280647|UMLS:C2748653|UMLS:C1866231|UMLS:C4280648|UMLS:C3806443 Increased size of cheeks|Full cheeks|Large cheeks|Hypertrophy of cheeks|Big cheeks|Puffy cheeks|Chubby cheeks|Hyperplasia of cheeks|Apple cheeks Increased prominence or roundness of soft tissues between zygomata and mandible. HP:0025592 Superior oblique muscle weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025592 Superior oblique palsy Decreased strength of the superior oblique muscle. HP:0000292 Loss of facial adipose tissue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000292 UMLS:C1837767 Decreased amount of facial fat|Loss of facial subcutaneous adipose tissue|Decreased volume of facial adipose tissue|Loss of subcutaneous adipose tissue from face|Decreased amount of facial adipose tissue|Loss of facial fat Loss of normal subcutaneous fat tissue in the face. HP:0025593 Superior oblique muscle restriction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025593 Mechanical limitation of the range of movement of the superior oblique muscle. HP:0025594 Superior oblique muscle overaction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025594 An ocular motility abnormality characterized by an overacting superior oblique muscle resulting to vertical incomitance of the eyes in lateral gaze. On examination, this is commonly seen as a downshoot of the adducting eye occuring when gaze is directed into the field of action of the inferior oblique muscle, producing a greater downward excursion of the adducted eye than of the abducted eye. HP:0000295 Doll-like facies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000295 UMLS:C1856361 Doll-like facial appearance A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin. HP:0000294 Low anterior hairline biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000294 UMLS:C1842366 Low frontal hairline|Low-set frontal hairline Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella. HP:0025595 Superior oblique muscle underaction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025595 Under-depression in adduction Reduced ocular movement of the superior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy. HP:0012275 Autosomal dominant inheritance with maternal imprinting biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012275 UMLS:C4022975 A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing. HP:0012276 Digital flexor tenosynovitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012276 UMLS:C4022974 Trigger finger Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs: (i) finger held in slight flexion, (ii) fusiform swelling, (iii) tenderness along the flexor tendon sheath, and (iv) pain with passive extension of the digit. HP:0012277 Hypoglycinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012277 UMLS:C4022973 Low blood glycine levels An abnormally reduced concentration of glycine in the blood. HP:0012278 Abnormal circulating serine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012278 UMLS:C4022972 Any deviation from the normal concentration of serine in the blood circulation. HP:0012279 Hyposerinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012279 UMLS:C4022971 Low blood serine levels Reduced concentration of serine in the blood. HP:0012270 Decreased muscle glycogen content biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012270 UMLS:C4022979 A decreased amount of glycogen in muscle tissue. HP:0012271 Episodic upper airway obstruction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012271 UMLS:C4022978 Intermittent episodes of increased resistance to the passage of air in the upper airway. HP:0012272 J wave biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012272 UMLS:C4018858 EKG J waves|Osborne waves The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point. HP:0012273 Increased carotid artery intimal medial thickness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012273 UMLS:C4022977 An increase in the combined thickness of the intima and media of the carotid artery. HP:0012274 Autosomal dominant inheritance with paternal imprinting biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012274 UMLS:C4022976 A type of autosomal dominant inheritance involving a gene that is imprinted with paternal silencing. HP:0025585 Hyperphoria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025585 Tendency for the visual axis of one eye to be higher than that of the other. HP:0025586 Hypertropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025586 A type of strabismus characterized by permanent upward deviation of the visual axis of one eye. HP:0025587 Hyperdeviation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025587 A type of strabismus in which the visual axis of one eye is higher than that of the other. HP:0025588 Hypodeviation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025588 A type of strabismus in which the visual axis of one eye is lower than that of the other. HP:0025589 Cyclodeviation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025589 Cyclodeviation is defined as the rotation of an eyeball along the anteroposterior axis and cyclotropia as a misalignment of cyclodeviation between the two eyes. HP:0025580 Abnormal right atrium morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025580 Fyler:1770 Any structural abnormality of the right atrium. HP:0025581 Foveal hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025581 Foveal haemorrhage Bleeding occurring within the fovea. HP:0025582 Submacular hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025582 Submacular haemorrhage|Sub-macular hemorrhage Bleeding between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation. HP:0025583 Tapetal-like fundal reflex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025583 Golden, scintillating, particulate reflection noted on fundus examination (typically in the macula and sparing the fovea). The term tapetal is used to describe this 'metallic' sheen appearance as it is thought to be similar to the 'tapetal' reflex seen in the eyes of certain animals. HP:0025584 Hypotropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025584 A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open. HP:0012220 Non-caseating epithelioid cell granulomatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012220 UMLS:C4022999 The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese). HP:0012221 Pretibial blistering biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012221 MSH:C535494|UMLS:C0432321|SNOMEDCT_US:67653003 Pretibial epidermolysis bullosa A type of blistering that affects the skin of the tibial region. HP:0012222 Arachnoid hemangiomatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012222 UMLS:C4022998 The presence of multiple hemangiomas in the arachnoid. HP:0012223 Splenic rupture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012223 MSH:D013161|SNOMEDCT_US:234506007|UMLS:C0038000 Ruptured spleen|Splenic rupture A breach of the capsule of the spleen. HP:0012224 Circulating immune complexes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012224 UMLS:C3887628 Persistence of immune complexes in the blood circulation. HP:0012225 Oligodontia of primary teeth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012225 UMLS:C4022997|UMLS:C4280316 Failure of development of some deciduous teeth|Missing some milk teeth|Partial anodontia of primary teeth|Missing some primary teeth|Missing some baby teeth|Decreased number of primary teeth|Decreased number of milk teeth|Decreased number of deciduous teeth|Fewer primary teeth than normal|Fewer baby teeth than normal|Partial anodontia of deciduous teeth|Decreased number of baby teeth|Fewer deciduous teeth than normal|Failure of development of some primary teeth Reduced number of primary teeth. HP:0012226 Ovarian teratoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012226 UMLS:C0280131|NCIT:C3403|SNOMEDCT_US:716077006 The presence of a teratoma in the ovary. HP:0012227 Urethral stricture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012227 SNOMEDCT_US:76618002|UMLS:C0041974|SNOMEDCT_US:236647003|MSH:D014525 Narrowing of the urethra associated with inflammation or scar tissue. HP:0000239 Large fontanelles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000239 UMLS:C4072822|SNOMEDCT_US:276709006|UMLS:C4072821|UMLS:C0456132|UMLS:C4072820 Large, late-closing fontanelle|Enlarged fontanelles|Large fontanelle|Wide fontanelles|Large fontanel|Wide bregma sutures|Large bregma sutures|Persistent wide fontanel|Large fontanels In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms. HP:0025538 Palmar edema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025538 Palmar oedema An abnormal accumulation of fluid beneath the skin on the palm of the hand. HP:0025539 Abnormal B cell subset distribution biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025539 HP:0000238 Hydrocephalus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000238 SNOMEDCT_US:230745008|UMLS:C0020255|MSH:D006849 Too much cerebrospinal fluid in the brain|Nonsyndromal hydrocephalus|Hydrocephaly Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. HP:0002894 Neoplasm of the pancreas biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002894 MSH:D010190|SNOMEDCT_US:363418001|NCIT:C3262|UMLS:C0346647|UMLS:C1842408|UMLS:C0030297|SNOMEDCT_US:126859007 Cancer of the pancreas|Pancreatic tumor|Neoplasia of the pancreas|increased risk of pancreatic cancer|Pancreatic cancer A tumor (abnormal growth of tissue) of the pancreas. HP:0001563 Fetal polyuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001563 UMLS:C1865279 Foetal polyuria Abnormally increased production of urine by the fetus resulting in polyhydramnios. HP:0025530 Xanthomas of the palmar creases biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025530 Xanthoma striatum palmare|Xanthoma palmare striatum 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. HP:0002895 Papillary thyroid carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002895 NCIT:C2853|SNOMEDCT_US:255029007|MSH:C536915|UMLS:C0238463 Papillary carcinoma of thyroid|Thyroid papillary carcinoma The presence of a papillary adenocarcinoma of the thyroid gland. HP:0000230 Gingivitis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000230 SNOMEDCT_US:66383009|UMLS:C0017574|MSH:D005891 Gingival inflammation|Inflamed gums|Red and swollen gums Inflammation of the gingiva. HP:0025531 Harlequin phenomenon biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025531 The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body. HP:0001561 Polyhydramnios biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001561 MSH:D006831|UMLS:C0020224|SNOMEDCT_US:86203003 Hydramnios|High levels of amniotic fluid The presence of excess amniotic fluid in the uterus during pregnancy. HP:0000233 Thin vermilion border biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000233 UMLS:C0578038|SNOMEDCT_US:301348000 Thin vermillion|Decreased volume of lip|Thin lips|Thin vermilion borders|Decreased volume of lip vermillion Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips). HP:0025532 Positive pathergy test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025532 With the pathergy test, a small, sterile needle is inserted into the skin of the forearm. The site of injectionis circuled and observed after one and two days. If a small red bump or pustule at the site of needle insertion occurs, the pathergy test is considered to have a positive (abnormal) result. HP:0000232 Everted lower lip vermilion biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000232 UMLS:C1866234|UMLS:C1853246 Everted prominent lower lip|Eclabium of lower lip|Drooping lower lip|Outward turned lower lip|Protruding lower lip|Everted lower lip 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. HP:0001562 Oligohydramnios biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001562 SNOMEDCT_US:59566000|UMLS:C0079924|MSH:D016104|UMLS:C3550658 Maternal oligohydramnios|Low levels of amniotic fluid Diminished amniotic fluid volume in pregnancy. HP:0025533 Peau d'orange biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025533 HP:0002893 Pituitary adenoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002893 NCIT:C2855|ICD-O:M8272/0|SNOMEDCT_US:128664001|MSH:D010911|SNOMEDCT_US:254956000|UMLS:C0032000 Noncancerous tumor in pituitary gland A benign epithelial tumor derived from intrinsic cells of the adenohypophysis. HP:0000235 Abnormality of the fontanelles or cranial sutures biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000235 UMLS:C4025876 Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments). HP:0025534 Ocular melanocytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025534 Ocular melanosis|Melanosis oculi A congenital lesion of the sclera characterized by unilateral patchy but extensive slate-gray or bluish discoloration of the sclera . The conjunctiva are spared. HP:0002898 Embryonal neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002898 MSH:D009373|UMLS:C0027654 Embryonal tumors|Embryonal neoplasia HP:0025535 Shawl sign biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025535 Erythematous, poikilodermatous macules distributed in a shawl pattern over the shoulders, arms and upper back. HP:0000234 Abnormality of the head biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000234 UMLS:C4021812 Abnormality of the head|Head abnormality|Abnormal head An abnormality of the head. HP:0025536 V-sign biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025536 Erythematous, poikilodermatous macules distributed in a V-shaped distribution over the anterior neck and chest. HP:0000237 Small anterior fontanelle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000237 UMLS:C1859455 Small anterior fontanel|Small forehead fontanel Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms. HP:0002896 Neoplasm of the liver biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002896 UMLS:C0345904|NCIT:C3262|SNOMEDCT_US:126851005|SNOMEDCT_US:93870000|UMLS:C0023903|MSH:D008113 Liver tumor|Liver cancer A tumor (abnormal growth of tissue) of the liver. HP:0002897 Parathyroid adenoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002897 ICD-10:D35.1|UMLS:C0262587|MSH:D010282|NCIT:C2855|SNOMEDCT_US:128474007 Parathyroid adenomas A benign tumor of the parathyroid gland that can cause hyperparathyroidism. HP:0001566 Widely-spaced maxillary central incisors biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001566 UMLS:C1835762|UMLS:C4280252|UMLS:C1845110 Gap between upper front teeth|Diastasis of the central incisors|Diastema between maxillary central incisors|Separated superior central incisors|Diastema between upper front teeth|Widely spaced upper incisors|Wide upper central incisors|Wide gap between upper central incisors|Diastema between upper incisors|Central incisor gap Increased distance between the maxillary central permanent incisor tooth. HP:0000236 Abnormality of the anterior fontanelle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000236 UMLS:C4025875 Abnormality of the forehead soft spot An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures. HP:0025537 Plantar edema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025537 Plantar oedema An abnormal accumulation of fluid beneath the skin on sole of the foot. HP:0012228 Tension-type headache biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012228 SNOMEDCT_US:66551002|UMLS:C0033893|SNOMEDCT_US:398057008|ICD-10:G44.2|MSH:D018781 Tension-type headache A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs. HP:0012229 CSF pleocytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012229 SNOMEDCT_US:91454002|UMLS:C0151857|MSH:D007964 Increased leukocyte count in CSF|Cerebrospinal fluid pleocytosis An increased white blood cell count in the cerebrospinal fluid. HP:0002890 Thyroid carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002890 UMLS:C0549473|MSH:D013964|NCIT:C2916 The presence of a carcinoma of the thyroid gland. HP:0002891 Uterine leiomyosarcoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002891 NCIT:C3158|SNOMEDCT_US:447389009|UMLS:C0280631 The presence of a leiomyosarcoma of the uterus. HP:0001560 Abnormality of the amniotic fluid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001560 SNOMEDCT_US:42170009|UMLS:C0266781 Abnormal amniotic fluid Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus. HP:0012210 Abnormal renal morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012210 Fyler:4512|SNOMEDCT_US:44513007|UMLS:C0266292 Abnormal kidney morphology|Kidney malformation|Abnormally shaped kidney|Structural renal anomalies|Structural anomalies of the renal tract|Renal malformation|Kidney structure issue|Structural kidney abnormalities Any structural anomaly of the kidney. HP:0012211 Abnormal renal physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012211 SNOMEDCT_US:39539005|UMLS:C0151746 Kidney function issue|Renal functional abnormality|Abnormality of renal physiology|Abnormal renal function|Abnormal kidney function An abnormal functionality of the kidney. HP:0012212 Abnormal glomerular filtration rate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012212 UMLS:C0854050 Abnormal GFR An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. HP:0012213 Decreased glomerular filtration rate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012213 UMLS:C0853068 Reduced creatinine clearance|Impaired renal creatinine clearance|Decreased GFR An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. HP:0012214 Increased glomerular filtration rate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012214 UMLS:C0856948 Increased GFR An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. HP:0012215 Testicular microlithiasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012215 SNOMEDCT_US:117261000119108|UMLS:C1864873|MSH:C566478 The deposition of calcium phosphate microliths within the seminiferous tubules. HP:0012216 Entrapment neuropathy of suprascapular nerve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012216 SNOMEDCT_US:230635000|UMLS:C0393890 Suprascapular nerve entrapment An entrapment neuropathy of the suprascapular nerve, presenting with shoulder weakness confined to the supraspinatus muscle (this muscle initiates shoulder abduction) or to the infraspinatus (this muscle externally rotates the arm), as well as with pain in the posterior part of the shoulder and upper periscapular region. HP:0025527 Serpiginous cutaneous lesion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025527 Serpiginous eruption A skin lesion with a snake- or serpent-like distribution. HP:0025528 Annular cutaneous lesion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025528 A lesion of the skin with a ring-like distribution. HP:0025529 Hyperpigmented nodule biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025529 A nodule of the skin that exhibits an increased amount of pigmentation. HP:0001574 Abnormality of the integument biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001574 UMLS:C4025761 An abnormality of the integument, which consists of the skin and the superficial fascia. HP:0000242 Parietal bossing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000242 UMLS:C1857126 Bossing of parietal bone|Biparietal bossing Parietal bossing is a marked prominence in the parietal region. HP:0025520 Calcinosis cutis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025520 Cutaneous calcification Deposition of calcium in the skin. HP:0001575 Mood changes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001575 SNOMEDCT_US:18963009|UMLS:C0085633 Moody|Mood alterations HP:0000244 Brachyturricephaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000244 UMLS:C1857484 Brachy-turricephaly|Turribrachycephaly|High, prominent forehead Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region. HP:0001572 Macrodontia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001572 UMLS:C4280591|SNOMEDCT_US:71485000|UMLS:C4280590|UMLS:C0266036|UMLS:C4280592 Increased size of tooth|Hyperplasia of tooth|Large teeth|Tooth mass excess|Increased width of tooth|Large tooth|Hypertrophy of tooth Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth. HP:0025521 Increased body fat percentage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025521 The percentage of fat as a part of total body weight above the norm, usually defined as 32% for females and 25% for males. HP:0000243 Trigonocephaly biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000243 UMLS:C4280666|UMLS:C4280665|MSH:D003398|UMLS:C0265535|SNOMEDCT_US:28740008 Wedge shaped cranium|Wedge shaped head|Triangular skull shape|Wedge shaped skull|Triangular cranium shape|Triangular head shape Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput. HP:0025522 Elongated chordae tendinae of the mitral valve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025522 Abnormal increased in length of the chordae tendinae of the mitral valve. HP:0000246 Sinusitis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000246 MSH:D010254|UMLS:C0030469|UMLS:C0037199|MSH:D012852|SNOMEDCT_US:36971009|SNOMEDCT_US:7393007 Sinus disease|Sinus infection|Sinus inflammation Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction. HP:0025523 Abnormal morphology of the chordae tendinae of the mitral valve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025523 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. HP:0025524 Palmoplantar scaling skin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025524 Palmoplantar psoriasis Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot. HP:0000245 Abnormal paranasal sinus morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000245 UMLS:C4025873 Abnormality of the sinuses|Abnormality of the sinuses of the head|Abnormality of the paranasal sinuses Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses. HP:0001579 Primary hypercortisolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001579 UMLS:C4025760|UMLS:C1968852 ACTH-independent hypercortisolemia Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol. HP:0000248 Brachycephaly biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000248 UMLS:C4072824|MSH:D003398|UMLS:C0221356|UMLS:C4072823|SNOMEDCT_US:13649004 Wide cranium shape|Broad skull shape|Broad head shape|Broad cranium shape|Wide head shape|Short and broad skull|Wide skull shape An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. HP:0025525 Scaling skin on fingertip biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025525 Loss of the outer layer of the epidermis in large, scale-like flakes localized to one or more fingertips. HP:0025526 Psoriasiform lesion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025526 Psoriatic-like lesion|Erythematosquamous plaque|Erythemato-squamous plaque 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. HP:0012217 Increased urinary porphobilinogen biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012217 UMLS:C4023000 Increased concentration of porphobilinogen in the urine. HP:0012218 Alveolar soft part sarcoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012218 SNOMEDCT_US:88195001|MSH:D018234|SNOMEDCT_US:404056007|UMLS:C0206657 A type of soft tissue sarcoma with a histological appearance reminiscent of alveoli because of its reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue. HP:0012219 Erythema nodosum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012219 MSH:D004893|UMLS:C0014743|SNOMEDCT_US:32861005 An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral. HP:0001571 Multiple impacted teeth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001571 UMLS:C1839965|UMLS:C4280593 Multiple retained teeth|Multiple impacted teeth|Impacted teeth|Multiple buried teeth The presence of multiple impacted teeth. HP:0000240 Abnormality of skull size biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000240 UMLS:C4025874 Abnormality of cranium size|Abnormality of head size|Abnormality of skull size Any abnormality of the size of the skull. HP:0012200 Abnormality of prothrombin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012200 UMLS:C4023005 An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade. HP:0012201 obsolete Reduced prothrombin activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012201 HP:0012202 Increased serum bile acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012202 UMLS:C4023004 An increase in the concentration of bile acid in the blood. HP:0012203 Onychomycosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012203 MSH:D014009|UMLS:C0040261|SNOMEDCT_US:414941008 A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split. HP:0012204 Recurrent vulvovaginal candidiasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012204 UMLS:C4023003 Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida. HP:0012205 Globozoospermia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012205 MSH:D000072660|SNOMEDCT_US:236818008|UMLS:C0403825 Any structural anomaly of the acrosome resulting in a round sperm head. HP:0000217 Xerostomia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000217 SNOMEDCT_US:87715008|SNOMEDCT_US:56893005|SNOMEDCT_US:300268000|UMLS:C0043352|MSH:D014987 Dry mouth syndrome|Dry mouth|Decreased salivary flow|Reduced salivation Dryness of the mouth due to salivary gland dysfunction. HP:0001549 Abnormal ileum morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001549 UMLS:C4025762 Abnormality of the ileum HP:0025516 Coronary-pulmonary artery fistula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025516 A congenital malformation with abnormal connection between one of the coronary arteries and the pulmonary artery. HP:0025517 Hypoplastic hippocampus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025517 Underdeveloped hippocampus|Small hippocampus Underdevelopment of the hippocampus. HP:0000216 Broad secondary alveolar ridge biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000216 UMLS:C1839276 Secondary alveolar ridges HP:0025518 Visual gaze preference biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025518 An abnormality of gaze that can be observed following an acute supranuclear cerebral lesion (e.g., stroke) that is characterized by an acute inability to direct gaze contralateral to the side of the lesion and is accompanied by a tendency for tonic deviation of the eyes toward the side of the lesion. HP:0001547 Abnormal rib cage morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001547 UMLS:C4025763 Abnormality of the rib cage A morphological anomaly of the rib cage. HP:0002878 Respiratory failure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002878 UMLS:C1145670|MSH:D012131|SNOMEDCT_US:409622000 Respiratory failure A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. HP:0000219 Thin upper lip vermilion biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000219 UMLS:C1865017 Decreased volume of upper lip|Decreased volume of upper lip vermilion|Thin red part of the upper lip|Thin upper lips|Thin vermilion border of upper lip|Decreased height of upper lip vermilion|Thin upper lip Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). HP:0000218 High palate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000218 UMLS:C0240635|SNOMEDCT_US:27272007 Ogival palate|Palate, high-arched|Elevated palate|High, arched palate|High arched palate|High palate|Increased palatal height|Palate high-arched|High-arched palate Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). HP:0001548 Overgrowth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001548 UMLS:C3150281|UMLS:C1851731|UMLS:C1849265 Generalized overgrowth|General overgrowth Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference. HP:0025519 Multiple biliary hamartomas biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025519 Multiple bile duct hamartomas|Von Meyenburg complexes|Biliary hamartoma Multiple biliary hamartomas are a rare clinicopathologic entity, consisting of small (less than 1.5cm), usually multiple and nodular cystic lesions in the liver. HP:0002879 Anisospondyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002879 UMLS:C1857101 Abnormally increased variability of the size of the vertebral bodies. HP:0002872 Apneic episodes precipitated by illness, fatigue, stress biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002872 UMLS:C3806462 Episodic apnea induced by febrile illness or stress Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress. HP:0001541 Ascites biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001541 SNOMEDCT_US:389026000|UMLS:C0003962|MSH:D001201 Accumulation of fluid in the abdomen Accumulation of fluid in the peritoneal cavity. HP:0000211 Trismus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000211 UMLS:C0041105|UMLS:C4228933|SNOMEDCT_US:87866006|UMLS:C4280672|MSH:D014313|UMLS:C1848474 Limited jaw opening|Lockjaw|Decrease in mandibular opening|Decrease in mandibular mobility|Limited jaw mobility|Limited jaw movement|Decrease in mandibular movement|Limited mandibular mobility|Decrease in jaw mobility|Limited mouth opening|Decrease in jaw movement|Limited mandibular opening|Pain of muscles of mastication|Decrease in jaw opening Limitation in the ability to open the mouth. HP:0002870 Obstructive sleep apnea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002870 UMLS:C0520679|SNOMEDCT_US:78275009|MSH:D020181 Obstructive sleep apnoea A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow. HP:0025510 Nevus spilus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025510 Speckled lentiginous Nevus A tan, regularly bordered patch with darker macules within the lesion. HP:0002871 Central apnea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002871 UMLS:C0520680|MSH:D020182 Central apnoea Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow. HP:0025511 Nevus sebaceus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025511 A solitary yellow-orange slightly raised plaque typically on scalp or face. The plaque typically thickens and becomes more verrucous or pebbly during childhood. HP:0001540 Diastasis recti biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001540 UMLS:C0221766|SNOMEDCT_US:62629000 Gap between large left and right abdominal muscles A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba). HP:0002876 Episodic tachypnea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002876 UMLS:C3806218 Hyperpnea, episodic Episodes of very rapid breathing. HP:0025512 Skin-colored papule biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025512 Flesh-colored papule A papule with the same color as the surrounding skin. HP:0001545 Anteriorly placed anus biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001545 UMLS:C1838705 Anteriorly displaced anus|Anus anteposition Anterior malposition of the anus. HP:0000212 Gingival overgrowth biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000212 UMLS:C0376480|MSH:D005886|SNOMEDCT_US:441787004|MSH:D019214|SNOMEDCT_US:54711002|MSH:D005885|UMLS:C0017567|SNOMEDCT_US:441798003|UMLS:C0017566 Gum hypertrophy|Gum enlargement|Oral soft tissue hyperplasia|Hypertrophic gingivitis|Gingival enlargement|Gingival hyperplasia Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown. HP:0025513 Scleral rupture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025513 Breakage of the sclera. HP:0002877 Nocturnal hypoventilation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002877 UMLS:C1843643 Nocturnal slow breathing|Nocturnal hypopnea|Nocturnal under breathing HP:0001543 Gastroschisis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001543 MSH:D020139|MEDDRA:10018046|UMLS:C0265706|SNOMEDCT_US:72951007 A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus. HP:0000215 Thick upper lip vermilion biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000215 UMLS:C1846423 Increased volume of upper lip vermilion|Thick vermilion border of upper lip|Plump upper lip|Full upper lip vermilion|Full upper lip|Increased height of upper lip vermilion|Increased volume of upper lip|Thick upper lip|Prominent upper lip|Prominent upper lip vermilion|Thick red part of the upper lip 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). HP:0025514 Morning glory anomaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025514 Morning glory optic disc|Morning glory disc anomaly An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic. HP:0000214 Lip telangiectasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000214 UMLS:C1857697|UMLS:C4280671|UMLS:C4280670 Labial angioectasias|Spider veins of the lip|Telangiectasia of the lips|Angioectasias of the lip|Lip telangiectases|Labial telangiectasia Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips. HP:0001544 Prominent umbilicus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001544 UMLS:C1837795 Prominent navel|Prominent belly button Abnormally prominent umbilicus (belly button). HP:0025515 Delayed thelarche biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025515 Later than normal development of the breasts. HP:0002875 Exertional dyspnea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002875 SNOMEDCT_US:60845006|UMLS:C0231807 Exertional dyspnoea HP:0012206 Abnormal sperm motility biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012206 UMLS:C0855512 Abnormal sperm motility An anomaly of the mobility of ejaculated sperm. HP:0012207 Reduced sperm motility biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012207 UMLS:C4023002 Asthenospermia|Reduced sperm motility An abnormal reduction in the mobility of ejaculated sperm. HP:0012208 Immotile sperm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012208 UMLS:C4023001 Nonmotile sperm A lack of mobility of ejaculated sperm. HP:0012209 Juvenile myelomonocytic leukemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012209 SNOMEDCT_US:445227008|SNOMEDCT_US:128832006|MSH:D054429|UMLS:C0349639|SNOMEDCT_US:277587001 Juvenile myelomonocytic leukaemia Juvenile myelomonocytic leukemia (JMML) is a lethal myeloproliferative disease of young childhood characterized clinically by overproduction of myelomonocytic cells and by the in vitro phenotype of hematopoietic progenitor hypersensitivity to granulocyte-macrophage colony-stimulating factor. HP:0025505 Anomalous origin of the circumflex artery from the right sinus of Valsalva biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025505 The circumflex coronary artery originates from the right aortic sinus of Valsalva. HP:0000228 Oral cavity telangiectasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000228 UMLS:C4280667|UMLS:C4025877 Oral cavity teleangiectasia|Angioectasias of the oral cavity|Spider veins of the mouth|Angioectasias of the mouth|Spider veins of the oral cavity Presence of telangiectases in the oral cavity. HP:0025506 Coronary artery sandwich anomaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025506 Anomalous coronary artery with aortic origin and course between the great arteries Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva, with the additional feature that the artery passes between the two great arteries. This carries a risk of the artery being compressed by these two vessels, HP:0000227 Tongue telangiectasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000227 UMLS:C4025878|UMLS:C4280668 Spider veins of the tongue|Lingual angioectasias|Lingual telangiectasia|Angioectasias of the tongue Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue. HP:0001558 Decreased fetal movement biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001558 UMLS:C0235659|SNOMEDCT_US:276369006 Decreased foetal movement|Decreased movement in utero|Less than 10 fetal movements in 12 hours|Reduced fetal movements|Fetal hypokinesia|Decreased fetal movements|Reduced fetal movement|Decreased fetal activity An abnormal reduction in quantity or strength of fetal movements. HP:0025507 Yellow papule biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025507 Yellow-orange papule A papule with yellow color. HP:0025508 Gottron's papules biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025508 Gottron papules Violaceous papules overlying the dorsal and lateral aspects of the metacarpophalangeal and proximal interphalangeal joints. HP:0025509 Piezogenic pedal papules biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025509 Flesh-colored or yellowish papules, 2 mm or larger, that are responses to internal mechanical pressure and weakness in the connective tissue in the dermis, appear commonly over the medial aspect of the heel, but in some cases on the wrists. They are thought to represent herniations of adipose tissue through the plantar fascia retinaculum. HP:0002883 Hyperventilation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002883 SNOMEDCT_US:68978004|MSH:D006985|UMLS:C0020578 Rapid breathing Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide. HP:0000220 Velopharyngeal insufficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000220 UMLS:C4280669|SNOMEDCT_US:232416001|SNOMEDCT_US:278714002|SNOMEDCT_US:229727006|UMLS:C0042454|MSH:D014681 Velopharyngeal incompetence|Velopharyngeal dysfunction Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech. HP:0001552 Barrel-shaped chest biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001552 SNOMEDCT_US:24228002|UMLS:C0264172 Barrel chest|Barrel-shaped chest A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis. HP:0002884 Hepatoblastoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002884 NCIT:C3728|SNOMEDCT_US:45024009|SNOMEDCT_US:109843000|MSH:D018197|UMLS:C0206624 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. HP:0000222 Gingival hyperkeratosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000222 UMLS:C1857013 Hyperkeratosis, gingival Hyperkeratosis of the gingiva. HP:0001551 Abnormal umbilicus morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001551 UMLS:C1849338 Abnormal navel|Abnormal belly button|Abnormal umbilicus An abnormality of the structure or appearance of the umbilicus. HP:0000221 Furrowed tongue biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000221 MSH:D014063|SNOMEDCT_US:52368004|UMLS:C0040412 Fissured tongue|Plicated tongue|Lingual furrow|Prominent tongue grooves|Grooved tongue|Lingue plicata|Scrotal tongue Accentuation of the grooves on the dorsal surface of the tongue. HP:0025500 Class II obesity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025500 Obesity grade 2 Obesity with a body mass index of 35 to 39.9 kg per square meter. HP:0002882 Sudden episodic apnea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002882 UMLS:C4025671 Recurrent bouts of sudden, severe apnea that may be life-threatening. HP:0000224 Hypogeusia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000224 UMLS:C0151934|MSH:D000370|SNOMEDCT_US:697990000 Decreased taste sensation|Decreased taste HP:0025501 Class III obesity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025501 Obesity grade 3 Obesity with a body mass index of 40 kg per square meter or higher. HP:0025502 Overweight biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025502 Increased body weight with a body mass index of 25-29.9 kg per square meter. HP:0001557 Prenatal movement abnormality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001557 UMLS:C1849510 Abnormal intrauterine movements An abnormality of fetal movement. HP:0002888 Ependymoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002888 NCIT:C3017|SNOMEDCT_US:443643007|SNOMEDCT_US:57706008|UMLS:C0014474|MSH:D004806 The presence of an ependymoma of the central nervous system. HP:0000223 Abnormality of taste sensation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000223 UMLS:C4025879 Abnormality of taste sensation HP:0002885 Medulloblastoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002885 UMLS:C0025149|MSH:D008527|SNOMEDCT_US:443333004|SNOMEDCT_US:83217000|NCIT:C3222 A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults. HP:0025503 Anomalous coronary artery arising from the opposite sinus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025503 Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva. HP:0000225 Gingival bleeding biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000225 MSH:D005884|UMLS:C0017565|SNOMEDCT_US:86276007 Gingivorrhagia|Gingival hemorrhage|Bleeding gums Hemorrhage affecting the gingiva. HP:0001555 Asymmetry of the thorax biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001555 UMLS:C1858033 Asymmetric chest Lack of symmetry between the left and right halves of the thorax. HP:0002886 Vagal paraganglioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002886 UMLS:C0474819|SNOMEDCT_US:253030004 Glomus vagale tumor|Vagal nerve tumors|Glomus vagale paraganglioma A tumor that develops in the retrostyloid compartment of the parapharyngeal space, arising from an island of paraganglion tissue derived from the neural crest that is located on the vagus nerve. HP:0002880 obsolete Respiratory difficulties biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002880 HP:0012264 Absent central microtubular pair morphology of respiratory motile cilia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012264 UMLS:C4022982 Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration. HP:0012265 Ciliary dyskinesia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012265 UMLS:C0008780|SNOMEDCT_US:86204009|MSH:D002925 A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia. HP:0012266 T-wave alternans biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012266 SNOMEDCT_US:428550008|UMLS:C1998313 A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG. HP:0012267 Absent respiratory ciliary axoneme radial spokes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012267 UMLS:C4022981 Absence of the radial spokes of the axoneme of the respiratory cilium. HP:0012268 Myxoid liposarcoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012268 SNOMEDCT_US:27849002|MSH:D018208|UMLS:C0206634|SNOMEDCT_US:404069006 A liposarcoma that contains myxomatous tissue. HP:0012269 Abnormal muscle glycogen content biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012269 UMLS:C4022980 Any anomaly in the amount of glycogen in muscle tissue. HP:0012260 Abnormal central microtubular pair morphology of respiratory motile cilia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012260 UMLS:C4022985 A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration. HP:0012261 Abnormal respiratory motile cilium physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012261 UMLS:C4022984 Any functional anomaly of the respiratory motile cilia. HP:0012262 Abnormal ciliary motility biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012262 UMLS:C4022983 Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions. HP:0012263 Immotile cilia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012263 UMLS:C1855672 HP:0000275 Narrow face biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000275 UMLS:C1849121|UMLS:C1837463 Decreased transverse dimension of face|Transverse hypoplasia of face|Horizontal deficiency of face|Thin facies|Transverse deficiency of face|Narrow face|Decreased breadth of face|Transverse insufficiency of face|Decreased horizontal dimension of face|Narrow facies|Horizontal insufficiency of face|Thin face|Horizontal hypoplasia of face|Decreased width of face Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective). HP:0025574 Macular hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025574 Macular haemorrhage|Bleeding occurring within the macula lutea of the retina. HP:0000274 Small face biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000274 UMLS:C1855538 Small face|Short and narrow face|Microfacies|Small facies|Facial hypoplasia|Microface|Hypoplasia of face A face that is short (HP:0011219) and narrow (HP:0000275). HP:0025575 Abnormal superior vena cava morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025575 Fyler:2820 Any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart. HP:0000277 Abnormality of the mandible biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000277 UMLS:C4025870 Anomaly of the mandible|Deformity of the lower jaw bone|Abnormality of the lower jaw bone|Malformation of the lower jaw bone|Deformity of the mandible|Abnormality of the mandible|Malformation of the mandible Any abnormality of the mandible, the bone of the lower jaw. HP:0025576 Abnormal inferior vena cava morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025576 Fyler:2810 Any structural anomaly of the principal vein draining blood from the lower portion of the body. HP:0000276 Long face biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000276 UMLS:C1836047 Elongation of face|Increased length of face|Increased vertical dimension of face|Vertical Facial Excess|Long facies|Vertical enlargement of face|Vertical hyperplasia of face|Vertical elongation of face|Long face|Increased height of face|Vertical overgrowth of face|Vertical excess of face Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective). HP:0025578 Aortic valve prolapse biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025578 Fyler:1452 Aortic valve prolapse can be diagnosed when either or both of the right or non-coronary aortic valve cusps (seen in the cross sectional echocardiographic long axis view) show backward bowing towards the left ventricle beyond a line joining the points of attachment of the aortic valve leaflets to the annulus. HP:0000278 Retrognathia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000278 MSH:D063173|UMLS:C3494422 Retrognathia of lower jaw|Receding chin|Retrogenia|Receding mandible|Weak chin|Receding lower jaw|Weak jaw|Lower jaw retrognathia An abnormality in which the mandible is mislocalised posteriorly. HP:0025579 Abnormal left atrium morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025579 Fyler:3010 Any structural abnormality of the left atrium. HP:0000271 Abnormality of the face biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000271 UMLS:C0266617|UMLS:C1290857|SNOMEDCT_US:118930001|SNOMEDCT_US:32003007|SNOMEDCT_US:398206004|UMLS:C4025871|SNOMEDCT_US:398302004 Disorder of face|Anomaly of face|Disorder of the face|Abnormal face|Abnormality of the face|Anomaly of the face|Abnormality of the physiognomy|Facial abnormality|Abnormality of the countenance|Facial anomaly|Abnormality of the visage An abnormality of the face. HP:0025570 Choroidal vascular hyperpermeability biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025570 Choroidal hyperpermeability Increased tendency of choiroidal blood vessels to allow fluids to leak characterized by multifocal choroidal hyperfluorescence on indocyanine green angiography (ICGA). HP:0000270 Delayed cranial suture closure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000270 UMLS:C0277828|SNOMEDCT_US:82779003 Open sutures|Broad late closing cranial sutures|Late-closing fontanelle|Late closing fontanelles|Late closure of fontanelle|Delayed closure of the fontanelles|Delayed cranial suture closure|Delayed closure of fontanels|Delayed closure of fontanel|Delayed closure of fontanelles|Delayed fontanelle closure|Delayed fontanel closure Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age. HP:0025571 Christmas tree cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025571 A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree. HP:0000273 Facial grimacing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000273 UMLS:C0234853|SNOMEDCT_US:37126005 Facial grimacing HP:0025572 Punctal stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025572 Lacrimal punctum stenosis|Stenosis of the lacrimal punctum Punctal stenosis is a condition in which the external opening of the lacrimal canaliculus is narrowed or occluded. HP:0000272 Malar flattening biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000272 UMLS:C4280651|UMLS:C1858085 Zygomatic flattening|Flat cheekbone|Depressed malar region|Hypotrophic malar bone|Decreased size of malar bone|Underdevelopment of malar bone|Malar hypoplasia Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. HP:0025573 Mild myopia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025573 A mild form of myopia with up to -3.00 diopters. HP:0012253 Abnormal respiratory epithelium morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012253 UMLS:C4022991 Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi. HP:0012254 Ewing sarcoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012254 MSH:D012512|SNOMEDCT_US:76909002|UMLS:C0553580 Ewing's sarcoma|Ewing sarcoma A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones. HP:0012255 Dynein arm defect of respiratory motile cilia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012255 UMLS:C4022990 An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy. HP:0012256 Absent outer dynein arms biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012256 UMLS:C4022989 Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. HP:0012257 Absent inner dynein arms biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012257 UMLS:C4022988 Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. HP:0012258 Abnormal axonemal organization of respiratory motile cilia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012258 UMLS:C4022987 Abnormal axonemal organisation of respiratory motile cilia Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9+2 microtubular pattern of motile cilia studded with dynein arms. HP:0012259 Absent inner and outer dynein arms biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012259 UMLS:C4022986 Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. HP:0012250 ST segment depression biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012250 SNOMEDCT_US:26141007|UMLS:C0520887|SNOMEDCT_US:429622005 An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line. HP:0012251 ST segment elevation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012251 SNOMEDCT_US:76388001|SNOMEDCT_US:164931005|UMLS:C0520886 An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line. HP:0012252 Abnormal respiratory system morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012252 Fyler:4235|UMLS:C4022992 A structural anomaly of the respiratory system. HP:0025563 Anterior chamber cells grade 0 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025563 Anterior chamber cells with less than one cell in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. HP:0000286 Epicanthus biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000286 UMLS:C0678230 Epicanthal fold|Plica palpebronasalis|Eye folds|Epicanthal folds|Palpebronasal fold|Epicanthic folds|Prominent eye folds A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. HP:0025564 Anterior chamber cells grade 2+ biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025564 Anterior chamber cells with 16-25 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. HP:0025565 Anterior chamber cells grade 3+ biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025565 Anterior chamber cells with 26-50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. HP:0000288 Abnormality of the philtrum biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000288 UMLS:C1857045 Abnormality of the paralabial region|Abnormality of the infranasal depression|Abnormal philtrum An abnormality of the philtrum. HP:0000287 Increased facial adipose tissue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000287 UMLS:C4025868|UMLS:C4280650|UMLS:C4280649 Facial fat hypertrophy|Increased amount of facial fat|Hypertrophy of facial adipose tissue|Increased volume of facial adipose tissue|Hyperplasia of facial adipose tissue|Facial fat hyperplasia|Increased amount of facial adipose tissue An increased amount of subcutaneous fat tissue in the face. HP:0025566 Anterior chamber cells grade 4+ biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025566 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. HP:0025567 Central serous chorioretinopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025567 An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the centre of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months. HP:0000289 Broad philtrum biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000289 UMLS:C1854111 Increased transverse dimension of philtrum|Increased horizontal dimension of philtrum|Increased width of philtrum|Wide philtrum|Increased breadth of philtrum Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum. HP:0025568 Abnormal morphology of the choroidal vasculature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025568 HP:0025569 Polypoidal choroidal vasculopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025569 The presence of aneurysmal polypoidal lesions in the choroidal vasculature. The aneurysmal dilatations, also known as polyps, may be found at subfoveal, juxtafoveal, extrafoveal, peripapillary or even peripheral regions. These polypoidal dilatations may be visible as reddish-orange subretinal nodules during ophthalmoscopic examination. The polypoidal lesions are best detected on indocyanine green angiography (ICGA) and might be associated with a branching vascular network (BVN) of neovascularization. HP:0000280 Coarse facial features biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000280 UMLS:C1845847|UMLS:C4072825 Thickened facial skin with coarse facial features|Rounded and heavy facial features|Coarse facies|Coarse facial features|Coarse facial appearance|Coarse face Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. HP:0000282 Facial edema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000282 UMLS:C0542571|SNOMEDCT_US:445088006 Facial swelling|Facial oedema|Facial puffiness HP:0025560 Anterior chamber cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025560 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. HP:0000284 obsolete Abnormality of the ocular region biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000284 HP:0025561 Anterior chamber cells grade 1+ biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025561 Anterior chamber cells with 6-15 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. HP:0000283 Broad face biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000283 UMLS:C1859680 Horizontal hyperplasia of face|Wide facies|Increased transverse dimension of face|Increased width of face|Horizontal excess of face|Broad face|Wide face|Transverse excess of face|Increased horizontal dimension of face|Transverse hyperplasia of face|Broad facies|Increased breadth of face Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective). HP:0025562 Anterior chamber cells grade 0.5+ biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025562 Anterior chamber cells with 1-5 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. HP:0012242 Superior rectus atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012242 UMLS:C1851108 Rectus superior atrophy Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe. HP:0012243 Abnormal reproductive system morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012243 UMLS:C4021096 Abnormal genital system morphology A structural or developmental anomaly of any of the tissues involved in the genital system. HP:0012244 Abnormal sex determination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012244 UMLS:C4022996 Anomaly of primary or secondary sexual development or characteristics. HP:0012245 Sex reversal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012245 UMLS:C4022995 Development of the reproductive system is inconsistent with the chromosomal sex. HP:0012246 Oculomotor nerve palsy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012246 UMLS:C0028866|SNOMEDCT_US:388980004|MSH:D015840 Oculomotor neuropathy Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve). HP:0012247 Specific anosmia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012247 UMLS:C4022994 Anosmia for one particular odor. HP:0012248 Prolonged PR interval biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012248 SNOMEDCT_US:164947007|UMLS:C0600125 Electrocardiographic long PR interval|Lengthened PR interval on EKG Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex). HP:0012249 Abnormal ST segment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012249 UMLS:C4022993 An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment. HP:0012240 Increased intramyocellular lipid droplets biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012240 UMLS:C4020730 Increased muscle lipid droplets An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images. HP:0012241 Levator palpebrae superioris atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012241 UMLS:C1851107 Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid. HP:0025552 Periorbital purpura biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025552 Multiple red/purple spots on the skin that surrounds the eyes that do not blanch (whiten) upon pressure. Purpura is caused by subcutaneous bleeding. HP:0000253 Progressive microcephaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000253 UMLS:C1850456 Microcephaly, progressive|Microcephaly, postnatal, progressive|Progressively abnormally small skull|Progressively abnormally small cranium Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms. HP:0001586 Vesicovaginal fistula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001586 SNOMEDCT_US:89405008|UMLS:C0042582|MSH:D014719 The presence of a fistula connecting the urinary bladder to the vagina. HP:0000252 Microcephaly biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000252 Fyler:4310|UMLS:C4551563|SNOMEDCT_US:271611007 Reduced head circumference|Small head circumference|Decreased size of cranium|Decreased circumference of cranium|Abnormally small cranium|small cranium|Small head|Small skull|Decreased size of head|small calvarium|Abnormally small head|Abnormally small skull|Decreased size of skull Head circumference below 2 standard deviations below the mean for age and gender. HP:0025553 Periorbital ecchymosis with tarsal plate sparing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025553 Raccoon eyes Subcutaneous bleeding with a diameter greater than 1 cm (ecchymosis). The bleeding does not extend into the tarsal plate (the comparatively thick, elongated plates of dense connective tissue within the eyelid) due to an anatomic structure called the orbital septum, which limits extravasation of blood beyond the tarsal plate. HP:0000255 Acute sinusitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000255 SNOMEDCT_US:15805002|UMLS:C0149512 An acute form of sinusitis. HP:0025554 Yellow nodule biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025554 A type of skin nodule (a lesions that is greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat) with a yellowish coloration (that reflects a high lipid content of the lesion). HP:0001583 Rotary nystagmus biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001583 SNOMEDCT_US:95783006|MSH:D009759|UMLS:C0240595|SNOMEDCT_US:44526006 Rotatory Nystagmus A form of nystagmus in which the eyeball makes rotary motions around the axis. HP:0025555 Periungual teleangiectasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025555 Telangiectasia (small dilated blood vessels) located near to the fingernails or toenails. HP:0000256 Macrocephaly biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000256 UMLS:C4083076|UMLS:C4255213|UMLS:C4280664|UMLS:C4280663|Fyler:4335 Large calvaria|Big cranium|Big calvaria|Big skull|Macrocrania|Increased size of head|Large skull|Big head|Increased size of skull|Large cranium|Increased size of cranium|Large head|Megacephaly|Large head circumference Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. HP:0001587 obsolete Primary ovarian failure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001587 HP:0025558 Lamellar cataract with riders biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025558 Lamellar cataracts with associated linear lens opacities radially extending towards the periphery of the lens. HP:0025559 Coronary cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025559 A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown. HP:0001581 Recurrent skin infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001581 UMLS:C1853193 Cutaneous infections|Skin infections, recurrent|Recurrent skin infections Infections of the skin that happen multiple times. HP:0001582 Redundant skin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001582 SNOMEDCT_US:201093004|UMLS:C0581342 Sagging, redundant skin|Redundant skin folds|Loose redundant skin Loose and sagging skin often associated with loss of skin elasticity. HP:0025550 Elevated circulating ribitol concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025550 Increased level of ribitol in serum An increase above the normal concentration of ribitol in the blood. HP:0000250 Dense calvaria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000250 UMLS:C1854834 Dense skull cap An abnormal increase of density of the bones making up the calvaria. HP:0025551 Optic nerve misrouting biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025551 Visual pathway misrouting|Optic pathway misrouting Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp). HP:0001580 Pigmented micronodular adrenocortical disease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001580 UMLS:C1968851 HP:0012231 Exudative retinal detachment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012231 SNOMEDCT_US:38599001|UMLS:C0154822 Serous retinal detachment A type of retinal detachment arising from damage to the outer blood-retinal barrier that allows fluid to access the subretinal space and separate the neurosensory retina from the retinal pigment epithelium. HP:0012232 Shortened QT interval biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012232 SNOMEDCT_US:77867006|UMLS:C0151879 Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). HP:0012233 Intramuscular hematoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012233 SNOMEDCT_US:262969000|UMLS:C0240412 Intramuscular haematoma|Intramuscular hemorrhage|Intramuscular hematomas|IM hematoma Blood clot formed within muscle tissue following leakage of blood into the tissue. HP:0012234 Agranulocytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012234 UMLS:C0702094 Marked decrease in the number of granulocytes. HP:0012235 Drug-induced agranulocytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012235 UMLS:C0272178|SNOMEDCT_US:47318007 A type of agranulocytosis related to ingestion of a specific medication. HP:0012236 Elevated sweat chloride biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012236 UMLS:C1856646 Elevated sweat Cl|Elevated sweat chloride|Elevated sweat Cl- An increased concentration of chloride in the sweat. HP:0012237 Urocanic aciduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012237 MSH:C536479|SNOMEDCT_US:60952007|UMLS:C0268514 High urine urocanic acid levels An increased concentration of urocanic acid in the urine. HP:0012238 Increased circulating chylomicron concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012238 UMLS:C1535978 Increased chylomicrons|Increased circulating chylomicron levels|Hyperchylomicronemia Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins. HP:0025549 Eccentric visual fixation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025549 Eccentric fixation A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees. HP:0012230 Rhegmatogenous retinal detachment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012230 SNOMEDCT_US:19620000|UMLS:C0271055 A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium. HP:0001596 Alopecia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001596 MEDDRA:10001760|UMLS:C0002170|SNOMEDCT_US:278040002|SNOMEDCT_US:56317004|MSH:D000505 Hair loss A noncongenital process of hair loss, which may progress to partial or complete baldness. HP:0000264 Abnormality of the mastoid biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000264 UMLS:C4025872 Abnormality of mastoid process of temporal bone An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone. HP:0025541 obsolete Decreased activity of complement receptor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025541 HP:0001597 Abnormality of the nail biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001597 UMLS:C0853087|UMLS:C0027339|MSH:D009264|MSH:D009260|SNOMEDCT_US:17790008 Abnormality of the nail|Nail disease Abnormality of the nail. HP:0000263 Oxycephaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000263 MSH:D003398 Acrocephaly Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull. HP:0001595 Abnormal hair morphology biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001595 UMLS:C0157733|UMLS:C2677869 Hair abnormality|Abnormality of the hair|Abnormality of the hair shaft An abnormality of the hair. HP:0000265 Mastoiditis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000265 SNOMEDCT_US:52404001|UMLS:C0024904|MSH:D008417 HP:0000268 Dolichocephaly biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000268 UMLS:C4280654|SNOMEDCT_US:72239002|UMLS:C4280653|UMLS:C4280656|UMLS:C0221358|UMLS:C4280655 Narrow cranium shape|Turridolichocephaly|Long, narrow head|Large dolichocephalic skull|Tall and narrow skull|Narrow head shape|Narrow skull shape An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture. HP:0000267 Cranial asymmetry biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000267 UMLS:C1860245|UMLS:C4280657|UMLS:C4280660|UMLS:C4280659|UMLS:C4280662|UMLS:C4280258|UMLS:C4280658|UMLS:C4280661 Abnormality of cranium shape|Uneven head shape|Asymmetry of head|Abnormality of head shape|Malformation of cranial vault shape|Malformation of head shape|Malformation of cranium shape|Abnormality of cranial vault shape|Cranial vault asymmetry|Asymmetry of cranium Asymmetry of the bones of the skull. HP:0025546 Abnormal mean corpuscular hemoglobin concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025546 Abnormal mean corpuscular haemoglobin|Abnormal MCHC|Abnormal mean corpuscular Hb concentration|Abnormal MCH|Abnormal mean corpuscular haemoglobin concentration A deviation from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced. HP:0001598 Concave nail biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001598 SNOMEDCT_US:66270006|UMLS:C0221261 Spoon-shaped nails|Koilonychia The natural longitudinal (posterodistal) convex arch is not present or is inverted. HP:0025547 Decreased mean corpuscular hemoglobin concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025547 Decreased mean corpuscular haemoglobin concentration|Decreased mean corpuscular Hb concentration|Decreased MCH|Decreased mean corpuscular haemoglobin|Decreased MCHC A reduction from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced. HP:0000269 Prominent occiput biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000269 UMLS:C1853737|UMLS:C4280652 Protruding back of the head|Prominent back of the skull|Prominent posterior head|Prominent posterior cranium|Protruding occiput|Prominent posterior skull|Prominent back of the head Increased convexity of the occiput (posterior part of the skull). HP:0025548 Increased mean corpuscular hemoglobin concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025548 Increased mean corpuscular Hb concentration|Increased mean corpuscular haemoglobin concentration|Increased MCH|Increased mean corpuscular haemoglobin|Increased MCHC An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). HP:0012239 Atransferrinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012239 MSH:C538259|UMLS:C0521802|SNOMEDCT_US:111571009 Absence of transferrin, a protein that transports iron, in the blood. HP:0000260 Wide anterior fontanel biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000260 UMLS:C1866134 Wider-than-typical soft spot of skull|Large anterior fontanels|Wide anterior fontanelle|Wide open anterior fontanelle|Large open anterior fontanelle|Large anterior fontanelle|Large open anterior fontanel|Large anterior fontanel Enlargement of the anterior fontanelle with respect to age-dependent norms. HP:0001592 Selective tooth agenesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001592 UMLS:C1970308|UMLS:C4280251 Agenesis of a tooth|Failure of development of a tooth|Missing a tooth|Absence of a tooth Agenesis specifically affecting one of the classes incisor, premolar, or molar. HP:0001593 Maxillary lateral incisor microdontia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001593 UMLS:C4280589|UMLS:C4280588|UMLS:C1845111 Decreased width of upper lateral incisor|Decreased size of maxillary lateral incisor|Small maxillary lateral incisor|Decreased size of upper lateral incisor|Hypotrophic maxillary lateral incisor|Small upper lateral incisor|Hypotrophic upper lateral incisor Decreased size of the maxillary permanent incisor. HP:0000262 Turricephaly biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000262 SNOMEDCT_US:48069004|MSH:D003398|UMLS:C0030044 Tower cranium shape|Tall shaped cranium|Tall shaped skull|Tower skull shape|Tall shaped head Tall head relative to width and length. HP:0001591 Bell-shaped thorax biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001591 UMLS:C1865186 Narrow, bell-shaped thorax|Constricted, bell-shaped thorax|Bell-shaped chest The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter. HP:0025540 Abnormal T cell subset distribution biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025540 Any abnormality in the proportion T cells subsets relative to the total number of T cells. HP:0003909 Cortical subperiosteal resorption of humeral metaphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003909 UMLS:C4025515 HP:0003904 Wide epiphyses of the upper limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003904 UMLS:C4021709 Broad epiphyses of the upper limbs|Wide end part of upper limb bones HP:0003903 Broad humeral epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003903 UMLS:C4021710 Wide humeral epiphyses|Wide end part of long bone in upper arm Increased width of the humeral epiphysis. HP:0003902 Epiphyseal stippling of the humerus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003902 UMLS:C4021711 Stippled ossification of the humeral epiphyses The presence of abnormal punctate (speckled, dot-like) calcifications in the humeral epiphysis. HP:0003901 Stippled calcification of the humeral epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003901 UMLS:C4025519 HP:0003908 Corner fracture of metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003908 UMLS:C4025516 Bucket handle fracture|Metaphyseal corner fracture Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias. HP:0003907 Abnormality of the humeral metaphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003907 UMLS:C4025517 Abnormality of the wide portion of the long bone in upper arm HP:0003906 Broad humeral epiphyseal plate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003906 UMLS:C4021708|UMLS:C4280540 Wide long bone of arm growth plate|Wide humeral epiphyseal plate Increased width of the humeral epiphyseal growth plate. HP:0003905 Abnormality of the humeral epiphyseal plate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003905 UMLS:C4025518|UMLS:C4280541 Abnormality of arm long bone growth plate HP:0003900 Small humeral epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003900 UMLS:C4025520 Small end part of long bone in upper arm HP:0003915 Lytic defects of the humeral metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003915 UMLS:C4025512 HP:0003914 Irregular ossification of humeral metaphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003914 UMLS:C4025513 Irregular bone maturation of the wide portion of the long bone in upper arm HP:0003913 Humeral metaphyseal irregularity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003913 UMLS:C4021706 Irregular wide portion of long bone in upper arm|Irregular humeral metaphyses HP:0003912 Frayed humeral metaphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003912 UMLS:C4025514 HP:0003919 Sclerotic humeral metaphysis with longitudinal striations biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003919 UMLS:C4025508 HP:0003918 Sclerotic humeral metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003918 UMLS:C4025509 Hardening of wide portion of long bone of upper arm|Stiffening of wide portion of long bone of upper arm HP:0003917 Pointed humeral metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003917 UMLS:C4025510 Pointed wide portion of long bone of upper arm HP:0003916 Normal-density transverse humeral bands biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003916 UMLS:C4025511 HP:0003911 Flared humeral metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003911 UMLS:C4020835|UMLS:C4020912 Wide/broad humeral metaphysis|Flared wide portion of long bone of upper arm|Flared humerus Flaring (increase of width with a splayed appearance) of the humeral metaphysis. HP:0003910 Enlarged humeral metaphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003910 UMLS:C4021707 Expanded humeral metaphyses|Enlarged wide portion of long bone of upper arm HP:0003948 Irregular epiphyses of the elbow biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003948 UMLS:C4025486 Irregular end part of the elbow bone HP:0002616 Aortic root aneurysm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002616 UMLS:C0238669|SNOMEDCT_US:251036003 Aortic root dilatation|Increased aortic root diameter|Bulge in wall of root of large artery that carries blood away from heart An abnormal localized widening (dilatation) of the aortic root. HP:0003947 Delayed elbow epiphyseal ossification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003947 UMLS:C4025487 Delayed maturation of the end part of the elbow bone A delay in the process of formation and maturation of the epiphysis of one or more long bones that are part of the elbow. HP:0002617 Vascular dilatation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002617 UMLS:C0002940|SNOMEDCT_US:432119003|UMLS:C4020848|SNOMEDCT_US:85659009|MSH:D000783|Fyler:2399 Aneurysms|Aneurysmal dilatation|Aneurysmal disease|Aneurysm|Wider than typical opening or gap Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart. HP:0002614 Hepatic periportal necrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002614 UMLS:C0546389 A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein. HP:0003946 Abnormality of the epiphyses of the elbow biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003946 UMLS:C4025488 Abnormality of end part of the elbow bone HP:0002615 Hypotension biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002615 SNOMEDCT_US:45007003|MSH:D007022|UMLS:C0020649 Arterial hypotension|Low blood pressure Low Blood Pressure, vascular hypotension. HP:0003945 Irregular articular surfaces of the elbow joints biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003945 UMLS:C4025489 HP:0003949 Abnormality of the elbow metaphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003949 UMLS:C4025485 Abnormal wide portion of elbow bone HP:0002619 Varicose veins biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002619 SNOMEDCT_US:12856003|SNOMEDCT_US:128060009|SNOMEDCT_US:399989005|MSH:D014648|UMLS:C0042345 Enlarged and tortuous veins. HP:0003940 Osteoarthritis of the elbow biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003940 SNOMEDCT_US:239866002|UMLS:C0409954 HP:0002612 Congenital hepatic fibrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002612 MSH:C562378|UMLS:C0009714|SNOMEDCT_US:79607001 Congenital liver fibrosis|Excessive buildup of connective tissue and scarring of liver at birth The presence of fibrosis of that part of the liver with congenital onset. HP:0003944 Narrow joint spaces of the elbow biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003944 UMLS:C4025490 Narrow joint spaces of the elbow HP:0002613 Biliary cirrhosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002613 SNOMEDCT_US:31712002|MSH:D008105|UMLS:C0008312|UMLS:C0023892|SNOMEDCT_US:1761006 Primary biliary cirrhosis Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease. HP:0003943 Abnormality of the joint spaces of the elbow biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003943 UMLS:C4025491 Abnormality of the joint spaces of the elbow HP:0003942 Synovial chondromatosis of the elbow biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003942 UMLS:C4025492 HP:0002611 Cholestatic liver disease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002611 UMLS:C0860204 HP:0003941 Stippled calcification of the elbow biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003941 UMLS:C4025493 HP:0002627 Right aortic arch with mirror image branching biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002627 UMLS:C4025695 The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery. HP:0003959 Deformed forearm bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003959 UMLS:C4025479 Deformed forearm bones HP:0003958 Cross-fusion of the forearm bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003958 UMLS:C4025480 HP:0002625 Deep venous thrombosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002625 UMLS:C0149871|MSH:D020246|SNOMEDCT_US:128053003 Multiple deep venous thrombosis|Blood clot in a deep vein|Deep vein thrombosis Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected. HP:0003957 Cortical thickening of the forearm bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003957 UMLS:C4021842 HP:0003956 Bowed forearm bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003956 UMLS:C4025481 Bowed forearm bones A bending or abnormal curvature affecting either the radius, the ulna, or both. HP:0002626 Venous varicosities of celiac and mesenteric vessels biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002626 UMLS:C1857692 Venous varicosities of coeliac and mesenteric vessels Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein. HP:0002629 Gastrointestinal arteriovenous malformation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002629 UMLS:C0744321 GI arteriovenous malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract. HP:0003951 Distal humeral metaphyseal irregularity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003951 UMLS:C4021703 Irregular metaphyses of elbow|Irregular wide portion of elbow bone Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow). HP:0003950 Flared elbow metaphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003950 UMLS:C4025484 Flared wide portion of elbow bone HP:0002623 Overriding aorta biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002623 UMLS:C0011818|SNOMEDCT_US:63934006|Fyler:1432|UMLS:C0265886 Dextroposition of aorta|Overriding aortic valve An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle. HP:0003955 Bone-in-a-bone appearance of forearm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003955 UMLS:C4025482 Bone-in-a-bone appearance of forearm A descriptive term for a forearm bone that appears to have an additional bone within it on radiography. HP:0003954 Angulated forearm bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003954 UMLS:C4025483 Angulated forearm bones HP:0002624 Abnormal venous morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002624 UMLS:C0241665 Abnormal vein|Venous abnormality An anomaly of vein. HP:0002621 Atherosclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002621 UMLS:C0004153|SNOMEDCT_US:38716007|UMLS:C4280569|MSH:D050197 Narrowing and hardening of arteries|Plaque build-up in arteries|Atherosclerotic cardiovascular disease A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow. HP:0003953 Absent forearm bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003953 UMLS:C4021701 Aplasia of the forearm bones|Absent forearm bone Absence of one or more forearm bones associated with congenital failure of development. HP:0003952 Sclerotic foci of metaphyses of the elbow biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003952 UMLS:C4021702 Vertical linear mixed lucent and sclerotic pattern of metaphyses HP:0002622 obsolete Dissecting aortic dilatation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002622 HP:0003926 Abnormality of the humeral diaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003926 UMLS:C4025502 Abnormality of shaft of long bone in upper arm An anomaly of the humeral diaphysis. HP:0003924 Stippled calcification of humeral metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003924 UMLS:C4025503 Speckled calcification in metaphysis of long bone of upper arm HP:0003923 Square humeral metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003923 UMLS:C4025504 Square metaphysis of long bone of upper arm HP:0003929 Ground glass opacity of humeral diaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003929 UMLS:C4025499 HP:0003928 Cortical thickening of humeral diaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003928 UMLS:C4025500 HP:0003927 Cortical irregularity of humeral diaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003927 UMLS:C4025501 An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus. HP:0003922 Spurred humeral metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003922 UMLS:C4025505 Spurred metaphysis of long bone of upper arm HP:0003921 Laterally sloping humeral metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003921 UMLS:C4025506 Laterally sloping metaphysis of long bone of upper arm HP:0003920 Sloping humeral metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003920 UMLS:C4025507 Sloping metaphysis of long bone of upper arm HP:0002605 Hepatic necrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002605 UMLS:C0151798|SNOMEDCT_US:87248009 The presence of cell death (necrosis) affecting the liver. HP:0003935 Wide humeral diaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003935 UMLS:C4021704 Broad shaft of long bone in upper arm|Wide shaft of long bone in upper arm|Broad humeral diaphysis Increased width of the humeral diaphysis. HP:0002604 Gastrointestinal telangiectasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002604 UMLS:C1619711 GI telangiectasia|Small, enlarged blood vessels near skin Telangiectasia affecting the gastrointestinal tract. HP:0003934 Slender humeral diaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003934 UMLS:C4025495 Slender shaft of long bone in upper arm HP:0002607 Bowel incontinence biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002607 UMLS:C0015732|SNOMEDCT_US:72042002|MSH:D005242 Loss of bowel control|Anal incontinence|Fecal incontinence Involuntary fecal soiling in adults and children who have usually already been toilet trained. HP:0003939 Humeroulnar synostosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003939 UMLS:C0431799|SNOMEDCT_US:205330003 Humeral ulnar synostosis An abnormal osseous union (fusion) between the ulna and the humerus. HP:0002608 Celiac disease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002608 SNOMEDCT_US:396331005|MSH:D002446|UMLS:C0007570 Celiac disease|Celiac sprue|Coeliac disease Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurence of CD is seen as a feature of a number of other diseases. HP:0003938 Synostosis involving the elbow biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003938 UMLS:C4025494 Bone fusion involving the elbow HP:0002601 Paresis of extensor muscles of the big toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002601 UMLS:C4025696 HP:0003933 Sclerosis of humeral diaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003933 UMLS:C4025496 Increased bone density in shaft of long bone in upper arm HP:0003932 Sclerotic foci of humeral diaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003932 UMLS:C4025497 HP:0003931 Periosteal new bone of humeral diaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003931 UMLS:C4025498 HP:0002600 Hyporeflexia of lower limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002600 UMLS:C1834696 Hyporeflexia in lower limbs|Hyporeflexia, lower limbs|Hyporeflexia of the lower limbs|Hyporeflexia/areflexia in lower limbs Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping. HP:0003930 Lytic defects of humeral diaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003930 UMLS:C4021705 Humeral diaphyseal lysis HP:0001288 Gait disturbance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001288 SNOMEDCT_US:22325002|UMLS:C0575081 Abnormal walk|Impaired gait|Gait abnormalities|Gait disturbances|Gait difficulties|Abnormal gait The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease. HP:0025255 Ameliorated by pregnancy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025255 Pregnancy relieves symptoms Applies to a sign or symptom that is improved or made more bearable by pregnancy in a female. HP:0001289 Confusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001289 MSH:D003221|SNOMEDCT_US:286933003|UMLS:C0009676 Mental disorientation|Easily confused|Confusion|Disorientation Lack of clarity and coherence of thought, perception, understanding, or action. HP:0025256 Ameliorated by heat biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025256 Heat improves condition|Heat improves symptom|Fever improves condition Applies to a sign or symptom that is improved or made more bearable by heat (including fever). HP:0025257 Ameliorated by carbohydrate ingestion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025257 Applies to a sign or symptom that is improved or made more bearable by eating or drinking carbohydrates including glucose (sugar). HP:0025258 Stiff neck biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025258 Stiff neck|Neck stiffness A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side. HP:0001287 Meningitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001287 SNOMEDCT_US:7180009|UMLS:C0025289|MSH:D008581 Inflammation of the meninges. HP:0025259 Stiff elbow biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025259 Elbow stiffness|Stiff elbow A sensation of tightness in the elbow joint when attempting to move it, especially after a period of inactivity. HP:0001281 Tetany biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001281 SNOMEDCT_US:10629009|MSH:D013746|UMLS:C0039621 Intermittent involuntary muscle spasm A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency. HP:0025250 Closed comedo biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025250 Whitehead 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. HP:0001284 Areflexia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001284 SNOMEDCT_US:37280007|UMLS:C0241772|MSH:D012021|UMLS:C0234146|SNOMEDCT_US:349006|UMLS:C0278124 Deep tendon reflexes absent|Absent reflexes|Loss of deep tendon reflexes|Absent tendon reflexes|Absent deep tendon reflexes Absence of neurologic reflexes such as the knee-jerk reaction. HP:0025251 Open comedo biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025251 Blackhead A comedo in which the part of the pore at the surface of the skin is stretched and open, exposing the contents of the comedo, which appear black. HP:0025252 Geographic tongue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025252 Annulus migrans|Benign migratory glossitis|Wandering rash of the tongue|Glossitis areata exfoliativa|Lingual erythema migrans An anomaly of the tongue characterized by loss (atrophy) of filiform papillae of the tongue, leaving areas of erythema (redness), surrounded by a serpiginous, white, hyperkeratotic border. The name geographic tongue refers to an appearance that is said to be similar to a map. HP:0001285 Spastic tetraparesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001285 SNOMEDCT_US:298282001|UMLS:C0575059 Spastic quadriparesis Spastic weakness affecting all four limbs. HP:0025253 Claustrophobia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025253 An abnormal fear of being in a closed or narrow space with no escape. HP:0025254 Ameliorated by biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025254 Improved 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 HP:0001283 Bulbar palsy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001283 MSH:D010244|UMLS:C1301959|SNOMEDCT_US:398432008|UMLS:C4082299 Bulbar muscle weakness|Bulbar weakness|Bulbar palsies Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia. HP:0025244 Subretinal pigment epithelium hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025244 Subretinal pigment epithelium haemorrhage An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch's membrane. HP:0025245 Cutaneous cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025245 A hollow mass located in the skin that is surrounded by an epithelium-lined wall and is well demarcated from the adjacent tissue. Cysts are often said to be sac-like and may contain serous liquid or semisolid material. HP:0001297 Stroke biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001297 SNOMEDCT_US:230690007|MSH:D020521|UMLS:C0038454 Cerebrovascular accidents|Cerebrovascular accident|Cerebral vascular events|Stroke Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. HP:0025246 Trichilemmal cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025246 Pilar cyst Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Trichilemmal cysts are acquired rather than congenital, and tend to appear on the scalp rather than the face, and to be intradermal rather than subcutaneous. HP:0001298 Encephalopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001298 SNOMEDCT_US:81308009|MSH:D001927|UMLS:C0085584 Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. HP:0025247 Dermoid cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025247 A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts are slowly progressive and can grow to a size of 1 to 4 cm. HP:0025248 Eruptive vellus hair cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025248 A cutaneous cyst that is small (one or two millimeters in diameter) and painless, presenting as a follicular papule that usually is skin colored but may have a reddish or brownish tinge. HP:0025249 Comedo biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025249 A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle). HP:0001291 Abnormal cranial nerve morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001291 UMLS:C1854510|UMLS:C4020872 Cranial nerve disease|Cranial nerve involvement|Cranial nerve abnormality|Abnormality of cranial nerve|Abnormality of the cranial nerves Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem. HP:0001290 Generalized hypotonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001290 UMLS:C1858120 Hypotonia, generalized|Generalized decreased muscle tone|Generalised hypotonia|Generalized muscular hypotonia Generalized muscular hypotonia (abnormally low muscle tone). HP:0025240 Preretinal hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025240 Preretinal haemorrhage|Preretinal heme An accumulation of blood between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation. HP:0025241 Flame-shaped retinal hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025241 Feathered retinal heme|Linear retina heme|Flame-shaped retinal haemorrhage A type of retinal hemorrhage that is located within the nerve fiber layer (NFL) of the retina and that exhibits a characteristic flame shape which results from constraints by the structure of the NFL (axons of the ganglion cells). HP:0025242 Dot-and-blot retinal hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025242 Round retinal heme|Dot-and-blot retinal haemorrhage 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. HP:0001293 Cranial nerve compression biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001293 SNOMEDCT_US:95664006|UMLS:C0521670 HP:0025243 Subretinal hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025243 Subretinal haemorrhage|Subretinal heme Accumulation of blood located beneath the neurosensory retina in the space between the neurosensory retina and the retinal pigment epithelium. HP:0025233 Sleep paralysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025233 An inability to move the body at sleep onset or upon awakening from sleep lasting seconds to a few minutes. HP:0001266 Choreoathetosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001266 UMLS:C0085583|UMLS:C0234967|SNOMEDCT_US:43105007 Choreoathetoid movements Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements). HP:0002597 Abnormality of the vasculature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002597 UMLS:C0241657 Vascular abnormalities|Abnormality of the vasculature|Abnormality of blood vessels An abnormality of the vasculature. HP:0025234 Parasomnia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025234 An undesirable physical event or experience that occur during entry into sleep, during sleep, or during arousal from sleep. HP:0002595 Ileus biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002595 UMLS:C1258215|MEDDRA:10021328|MSH:D045823 Gastrointestinal atony Acute obstruction of the intestines preventing passage of the contents of the intestines. HP:0001264 Spastic diplegia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001264 MSH:D002547|UMLS:C0023882|SNOMEDCT_US:281411007 Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis. HP:0025235 Non-rapid eye movement parasomnia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025235 NREM parasomnia A parasomnia that occurs in non-rapid eye movement (NREM) sleep. This refers to a disorder of arousal that occurs during slow-wave sleep (ie, NREM stage 3 sleep). HP:0001265 Hyporeflexia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001265 UMLS:C0700078|SNOMEDCT_US:405946002 Decreased reflex response|Decreased reflexes Reduction of neurologic reflexes such as the knee-jerk reaction. HP:0025236 Somnambulism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025236 Sleep walking Ambulation or other complex motor behaviors after getting out of bed in a sleep-like state. During sleepwalking episodes, the sonambulating individual appears confused or dazed, the eyes are usually open, and he or she might mumble or give inappropriate answers to questions, or occasionally appear agitated. HP:0025237 Confusional arousal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025237 A nocturnal episode characterized by disorientation, grogginess, and, at times, substantial agitation upon awakening from slow-wave sleep or following forced awakenings. These characteristics might present as agitation, crying or moaning, disorientation, and particularly slow mentation on arousal from sleep (i.e., sleep inertia). The duration of episodes is typically 5 to 15 min but they might last up to several hours. HP:0025238 Foot pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025238 Foot pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the foot. HP:0025239 Subhyaloid hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025239 Subhyaloid haemorrhage|Subhyaloid heme A localized detachment of the vitreous from the retina due to the accumulation of blood. When localized in the macular area, it results in sudden profound loss of vision. Subhyaloid premacular hemorrhage is typically characterized by a circumscribed, round or dumb-bell shaped, bright red mound of blood beneath the internal limiting membrane (ILM) or between the ILM and hyaloid face, in or near to the central macular area. HP:0001268 Mental deterioration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001268 MSH:D060825|UMLS:C0234985 Cognitive decline|Cognitive decline, progressive|Progressive cognitive decline|Mental deterioration|Intellectual deterioration Loss of previously present mental abilities, generally in adults. HP:0002599 Head titubation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002599 UMLS:C1608410 A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction. HP:0001269 Hemiparesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001269 SNOMEDCT_US:20022000|SNOMEDCT_US:127377003|MSH:D010291|UMLS:C0018989 Weakness of one side of body 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. HP:0002590 Paralytic ileus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002590 MSH:D007418|SNOMEDCT_US:55525008|UMLS:C0030446 HP:0001262 Excessive daytime somnolence biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001262 SNOMEDCT_US:271782001|SNOMEDCT_US:79519003|UMLS:C2830004 More than typical sleepiness during day|Excessive daytime sleepiness A state of abnormally strong desire for sleep during the daytime. HP:0002593 Intestinal lymphangiectasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002593 SNOMEDCT_US:197260007|UMLS:C0024215|MSH:D008201 Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines. HP:0001263 Global developmental delay biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001263 SNOMEDCT_US:224958001|UMLS:C0557874|UMLS:C1864897|UMLS:C4020875 Developmental delay, global|Cognitive delay|Retarded development|Psychomotor delay|Delayed cognitive development|Mental and motor retardation|Retarded mental development|Delayed developmental milestones|Developmental delay in early childhood|Lack of psychomotor development|Psychomotor developmental delay|Psychomotor development failure|Delayed psychomotor development|Psychomotor development deficiency|Motor and developmental delay|Delayed milestones|Delayed development|Developmental retardation|Delayed intellectual development|Retarded psychomotor development|Developmental delay A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. HP:0025230 Tendonitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025230 Teninitis Inflammation of a tendon. HP:0002594 Pancreatic hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002594 UMLS:C0266267|SNOMEDCT_US:68591005 Hypoplastic pancreas|Underdeveloped pancreas Hypoplasia of the pancreas. HP:0002591 Polyphagia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002591 MSH:D006963|UMLS:C0020505|SNOMEDCT_US:72405004|SNOMEDCT_US:58424009|SNOMEDCT_US:267023007|UMLS:C0232461 Hyperphagia|Increased appetite|Voracious appetite A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat. HP:0001260 Dysarthria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001260 MSH:D004401|UMLS:C0013362|SNOMEDCT_US:8011004 Difficulty articulating speech|Dysarthric speech Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. HP:0025231 Abnormality of synovial bursa morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025231 A structural anomaly of a synovial bursa. HP:0002592 Gastric ulcer biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002592 UMLS:C0038358|MSH:D013276|SNOMEDCT_US:397825006|MEDDRA:10017822 Stomach ulcer An ulcer, that is, an erosion of an area of the gastric mucous membrane. HP:0025232 Bursitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025232 Inflammation of a synovial bursa. HP:0025222 Triggered by sleep deprivation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025222 Triggered by sleep deprivation|Sleep deprivation triggered symptoms Applies to a sign or symptom that is provoked or brought about by a lack of sufficient sleep. HP:0001278 Orthostatic hypotension biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001278 MSH:D007024|SNOMEDCT_US:28651003|UMLS:C0020651 Decrease in blood pressure upon standing up|Postural hypotension A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position. HP:0025223 Triggered by smoking biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025223 Smoking triggered symptoms|Triggered by cigarette consumption|Triggered by smoking|Triggered by tobacco use Applies to a sign or symptom that is provoked or brought about by smoking. HP:0025224 Triggered by sodium ingestion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025224 Triggered by sodium intake|Sodium ingestion triggered symptoms|Triggered by salt ingestion|Triggered by Na+ ingestion|Sodium intake triggered attacks|Triggered by Na ingestion Applies to a sign or symptom that is provoked or brought about by eating or drinking sodium. HP:0025225 Triggered by sound biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025225 Sound triggered symptoms|Triggered by sound Applies to a sign or symptom that is provoked or brought about by exposure to sound or noise. HP:0001276 Hypertonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001276 SNOMEDCT_US:41581000|UMLS:C0026826|MSH:D009122|SNOMEDCT_US:56731001 Spasticity and rigidity of muscles|Increased muscle tone|Muscle hypertonia|Hypertonicity A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. HP:0025226 Triggered by stress biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025226 Stress triggered symptoms|Triggered by stress Applies to a sign or symptom that is provoked or brought about by a physical, mental, or emotional factor associated with bodily or mental tension. HP:0025227 Triggered by excitement biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025227 Excitement triggered symptoms|Triggered by startle|Triggered by excitement Applies to a sign or symptom that is provoked or brought about by a a state of excitement or by being startled. HP:0025228 Triggered by sudden movement biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025228 Sudden movement triggered symptoms|Kinesigenic|Triggered by sudden movement Applies to a sign or symptom that is provoked or brought about by a sudden movement. HP:0001279 Syncope biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001279 UMLS:C0039070|SNOMEDCT_US:272030005|SNOMEDCT_US:309585006|SNOMEDCT_US:271594007|MSH:D013575 Fainting spell 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. HP:0025229 Triggered by vestibular stimulation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025229 Vestibular stimulation triggered symptoms|Vestibular stimulation triggered attacks Applies to a sign or symptom that is provoked or brought about by vestibular stimulation, including head turning, cold calorics, postural changes, or rotating chair. HP:0001270 Motor delay biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001270 UMLS:C4020874|UMLS:C1854301 Retarded motor development|Locomotor delay|Delayed early motor milestones|Motor retardation|Motor developmental milestones not achieved|Delayed motor milestones|No development of motor milestones|Delayed motor development|Delay in motor development|Motor developmental delay A type of Developmental delay characterized by a delay in acquiring motor skills. HP:0001273 Abnormal corpus callosum morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001273 UMLS:C1842581 Abnormal corpus callosum|Abnormality of the corpus callosum|Corpus callosum abnormality Abnormality of the corpus callosum. HP:0001274 Agenesis of corpus callosum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001274 UMLS:C0175754|SNOMEDCT_US:5102002|MSH:D061085|Fyler:4321 Agenesis of the corpus callosum|Absent corpus callosum|Callosal agenesis|Dysplastic or absent corpus callosum|Corpus callosum agenesis|Absence 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. HP:0001271 Polyneuropathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001271 SNOMEDCT_US:42345000|SNOMEDCT_US:42658009|SNOMEDCT_US:302226006|MSH:D010523|UMLS:C0031117|MSH:D011115|UMLS:C0152025 Peripheral nerve disease A generalized disorder of peripheral nerves. HP:0025220 Triggered by menstruation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025220 Triggered by period|Menstruation triggered symptoms|Triggered by monthly period Applies to a sign or symptom that is provoked or brought about by menstruation in a female. HP:0001272 Cerebellar atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001272 SNOMEDCT_US:95646004|UMLS:C0262404|UMLS:C4020873|UMLS:C0740279 Infratentorial atrophy|Atrophic cerebellum|Degeneration of cerebellum Atrophy (wasting) of the cerebellum. HP:0025221 Triggered by pregnancy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025221 Pregnancy triggered symptoms|Triggered by pregnancy Applies to a sign or symptom that is provoked or brought about by pregnancy in a female. HP:0025291 Lower-body predominance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025291 Applies to an abnormality that affects the legs more than the arms, trunk, head. HP:0025292 Acral biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025292 Applies to an abnormality that affects the distal portions of limbs (hand, foot) and head (ears, nose). HP:0025293 Distributed along Blaschko lines biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025293 Applies to an abnormality whose localization corresponds to the lines of Blaschko, which correspond to the lineage of epithelia cells. Blaschko lines are normally invisible but may become apparent with certain skin diseases and then can be seen to be distributed in lines horizontal to the body. HP:0025294 Dermatomal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025294 Radicular Applies to an abnormality whose localization corresponds to the dermatomes, i.e., the nerve root distribution. HP:0025295 Herpetiform biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025295 Applies to an abnormality whose distribution and appearance resembles that of the grouped umbilicated vesicles seen in herpes simplex and herpes zoster infections. HP:0025296 Morbilliform biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025296 Applies to an abnormality whose distribution and appearance resembles that of measles, i.e., maculopapular lesions that are red and roughly 2 to 10 mm in diameter and may be partially confluent. HP:0025297 Prolonged biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025297 Applied to an abnormality whose duration is extended over a longer period of time than is expected or usual (e.g., prolonged fever lasts longer than one usually sees with an infection). HP:0025290 Upper-body predominance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025290 Applies to an abnormality that affects the arms, trunk, head more than the legs. HP:0025289 Cervical lymphadenopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025289 Swollen lymph nodes in the neck Enlarged lymph nodes in the neck. HP:0025280 Pain characteristic biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025280 A pain characteristic is defined as a subjective category or type of pain. HP:0025281 Sharp biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025281 Applied to pain that is described as sharp, i.e., sudden and severe. HP:0025282 Dull biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025282 Dull pain Applied to pain that is dull, i.e., not severe but that continues over a long period of time. HP:0025283 Tender biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025283 Applied to pain that is tender, i.e., elicited by touching the affected body part. HP:0025284 Sleep-interrupting biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025284 Applied to pain that wakes the affecting individual from sleep. HP:0025285 Aggravated by biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025285 Exacerbated 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. HP:0025286 Aggravated by activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025286 Aggravated by exercise|Worse with activity|Worsened by activity|Aggravated by exertion Applied to a sign or symptom that is aggravated by activity, exertion, or exercise. HP:0025287 Axial biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025287 Applies to an abnormality that is situated in the central part of the body, in the head and trunk as distinguished from the limbs. HP:0025277 Gustatory sweating biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025277 Hyperhidrosis that occurs with gustatory stimulation (e.g., moisture on face from sweating that occurs after eating). HP:0025278 Cold-induced sweating biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025278 Sweating provoked by cold temperature rather than by heat. HP:0025279 Migratory biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025279 HP:0025270 Abnormality of esophagus physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025270 Functional abnormality of the esophagus|Abnormality of oesophagus physiology Any physiological abnormality of the esophagus. HP:0025271 Esophageal spasms biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025271 Involuntary contractions of the esophagus that are irregular, uncoordinated, and painful. HP:0025272 Melasma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025272 Facial melanosis|Chloasma Symmetrical, blotchy, brownish facial pigmentation. HP:0025273 Achilles tendonitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025273 Inflammation of the Achilles tendon. HP:0025274 Ovarian dermoid cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025274 Mature cystic ovarian teratoma An cystic ovarian teratoma composed of dermal and epidermal elements and containing tissue components including hair, teeth, bone, thyroid, and others. HP:0025275 Lateral biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025275 Applies to an abnormality that is located farther from the median plane or midline of the body or of the referenced structure. HP:0025276 Abnormality of skin adnexa physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025276 Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. HP:0025266 Cervical osteoarthritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025266 Degeneration (wear and tear) of the articular cartilage of the neck joints. HP:0025267 Snoring biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025267 Snores|Snore|Snoring symptoms Deep, noisy breathing during sleep accompanied by hoarse or harsh sounds caused by the vibration of respiratory structures (especially the soft palate) resulting in sound due to obstructed air movement during breathing while sleeping. HP:0025268 Stuttering biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025268 Stuttering|Stammering Disruptions in the production of speech sounds, with involuntary repetitions of words or parts of words, prolongations of speech sounds, or complete blockage of speech production for several seconds. HP:0025269 Panic attack biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025269 Panic attack A sudden episode of intense fear in a situation in which there is no danger or apparent cause. The panic attack is accompanied by symptoms such as palpitations, sweating and chills or hot flushes. There may be a sensation of dyspnea (being out of breath), chest pain, or abdominal distress. Some individuals with panic attacks may experience depersonalization, a fear of going crazy, or a fear of dying. HP:0025260 Stiff wrist biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025260 Stiff wrist|Wrist stiffness A sensation of tightness in the wrist joint when attempting to move it, especially after a period of inactivity. HP:0025261 Stiff finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025261 Finger stiffness|Stiff finger A sensation of tightness in a finger joint when attempting to move it, especially after a period of inactivity. HP:0025262 Stiff hip biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025262 Stiff hip|Hip stiffness A sensation of tightness in the hip joint when attempting to move it, especially after a period of inactivity. HP:0025263 Stiff knee biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025263 Stiff knee|Knee stiffness A sensation of tightness in the knee joint when attempting to move it, especially after a period of inactivity. HP:0025264 Stiff ankle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025264 Ankle stiffness|Stiff ankle A sensation of tightness in the ankle joint when attempting to move it, especially after a period of inactivity. HP:0025265 Stiff toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025265 Stiff toe|Toe stiffness A sensation of tightness in a toe joint when attempting to move it, especially after a period of inactivity. HP:0002539 Cortical dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002539 SNOMEDCT_US:253153000|UMLS:C0431380|MSH:D054220 Neocortical dysplasia The presence of developmental dysplasia of the cerebral cortex. HP:0003869 Humeral cortical thinning biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003869 UMLS:C4025541 HP:0002538 Abnormality of the cerebral cortex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002538 UMLS:C4025701 An abnormality of the cerebral cortex. HP:0003868 Humeral cortical thickening biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003868 UMLS:C4025542 HP:0003863 Angulated humerus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003863 UMLS:C4025546 Angulated long bone in upper arm HP:0003862 Absent humerus biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003862 UMLS:C2678399 Aplasia of the humerus|Absent long bone in upper arm|Aplastic humerus Missing humerus bone associated with congenital failure of development. HP:0003861 Broad diaphyses of the upper limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003861 UMLS:C4021718 Wide diaphyses of the upper limbs|Wide shaft of long bone of the upper limbs|Broad shaft of long bone of the upper limbs HP:0003860 Diaphyseal sclerosis of the upper limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003860 UMLS:C4025547 Increased bone density in central part of long bone of upper limbs An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity. HP:0002530 Axial dystonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002530 UMLS:C1836149 A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles. HP:0001204 Distal symphalangism of hands biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001204 UMLS:C1862158 Symphalangism affecting the distal phalanges of the hand|Terminal symphalangism|Synostosis of distal phalanges|Fused outermost bones of hand The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases. HP:0003867 Humeral cortical irregularity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003867 UMLS:C4025543 HP:0002536 Abnormal cortical gyration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002536 UMLS:C1856019 Cerebral gyral anomalies|Abnormal gyration An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain. HP:0003866 Coarse humeral trabeculae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003866 UMLS:C4025544 HP:0002533 Abnormal posturing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002533 SNOMEDCT_US:43029002|UMLS:C0231471 Involuntary flexion or extension of the arms and legs. HP:0003865 Bowed humerus biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003865 UMLS:C1859460 Bowing of the humerus|Bowed long bone in upper arm|Humeral bowing A bending or abnormal curvature of the humerus. HP:0003864 Bifid humerus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003864 UMLS:C4025545 Notched long bone in upper arm Clefting affecting the humerus. HP:0001217 Clubbing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001217 SNOMEDCT_US:367004|UMLS:C0149651 Digital clubbing|Clubbing of fingers and toes Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails. HP:0002548 Parkinsonism with favorable response to dopaminergic medication biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002548 UMLS:C1846868 Favorable response to levodopa|Parkinsonism with favourable response to dopaminergic medication Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication. HP:0003879 Humeral pseudarthrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003879 UMLS:C4025532 False joint (long bone in upper arm) HP:0001218 Autoamputation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001218 UMLS:C1833222 Spontaneous detachment (amputation) of an appendage from the body. HP:0002549 Deficit in phonologic short-term memory biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002549 UMLS:C1847609 HP:0002542 Olivopontocerebellar atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002542 UMLS:C0028968|SNOMEDCT_US:67761004|MSH:D009849 Olivopontocerebellar degeneration Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus. HP:0001211 Abnormal fingertip morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001211 UMLS:C4025796 Abnormality of the fingertips An abnormal structure of the tip (end) of a finger. HP:0003874 Humerus varus biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003874 UMLS:C4025537 HP:0001212 Prominent fingertip pads biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001212 UMLS:C1835807 Persistence of fingerpads|Persistent fetal fingertip pads|Prominent finger pads|Prominent fingertip pads A soft tissue prominence of the ventral aspects of the fingertips. The term "persistent fetal fingertip pads" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist. HP:0002540 Inability to walk biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002540 SNOMEDCT_US:282145008|UMLS:C0560046 Non-ambulatory|Inability to walk Incapability to ambulate. HP:0003872 Humeral exostoses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003872 UMLS:C4025538 Presence of more than one exostosis originating in one or noth humerus bones. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage. HP:0003871 Deformed humerus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003871 UMLS:C4025539 Deformed long bone in upper arm HP:0002546 Incomprehensible speech biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002546 UMLS:C1838027 Incomprehensible speech HP:0001215 Camptodactyly of 2nd-5th fingers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001215 UMLS:C1859368 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. HP:0003878 Periosteal new bone of humerus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003878 UMLS:C4025533 HP:0001216 Delayed ossification of carpal bones biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001216 UMLS:C1841684|UMLS:C4280599 Delayed carpal bone age|Delayed carpal ossification|Carpal delayed ossification|Delayed maturation of carpal bones|Delayed maturation of wrist bone Ossification of carpal bones occurs later than age-adjusted norms. HP:0003877 Oval transradiancy of humerus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003877 UMLS:C4025534 Humeral oval transradiancy HP:0002544 Retrocollis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002544 UMLS:C3887667 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. HP:0003876 Osteoporotic humerus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003876 UMLS:C4025535 HP:0003875 Humeral lytic defects biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003875 UMLS:C4025536 Lytic defects of the humerus Destruction of an area of humerus bone due to a disease process, such as cancer. OBO:hp#layperson layperson term biolink:OntologyClass hp http://purl.obolibrary.org/obo/hp#layperson HP:0002545 Patchy demyelination of subcortical white matter biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002545 UMLS:C1857638 Patchy loss of myelin from nerve fibers in the central nervous system. HP:0003870 Crumpled humerus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003870 UMLS:C4025540 Crumpled long bone in upper arm HP:0003849 Flared upper limb metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003849 UMLS:C4021721 Flared metaphyses of the upper limbs|Flared wide portion of the upper limb bone The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm. HP:0003848 Cupped metaphyses of the upper limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003848 UMLS:C4025555 Cupped wide portion of the upper limb bone HP:0002518 Abnormality of the periventricular white matter biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002518 UMLS:C2673431 Periventricular white matter abnormalities HP:0002515 Waddling gait biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002515 SNOMEDCT_US:271706000|MSH:D020233|UMLS:C0231712 'Waddling' gait|Waddling walk Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck. HP:0002516 Increased intracranial pressure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002516 UMLS:C0151740|SNOMEDCT_US:271719001|MSH:D019586 Intracranial pressure elevation|Intracranial hypertension|Rise in pressure inside skull An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid. HP:0003846 Wide epiphyseal plates of the upper limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003846 UMLS:C4020913 Broad epiphyseal plates of the upper limbs|Broad growth plates of upper limbs HP:0002519 Hypnagogic hallucinations biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002519 SNOMEDCT_US:44780000|MSH:D006212|UMLS:C0233773 HP:0003841 Fragmented epiphyses of the upper limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003841 UMLS:C4025559 Fragmented end part of upper limb bones HP:0002510 Spastic tetraplegia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002510 UMLS:C0426970|MSH:D011782|SNOMEDCT_US:192965001 Spastic quadriplegia Spastic paralysis affecting all four limbs. HP:0003840 Delayed upper limb epiphyseal ossification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003840 UMLS:C4280544|UMLS:C4025560 Delayed maturation fo the end part of the upper limb bone A delay in the process of formation and maturation of the epiphysis of one or more long bones of the upper limbs. HP:0002514 Cerebral calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002514 UMLS:C0270685|SNOMEDCT_US:17944005 Intracranial calcification|Brain calcification|Abnormal deposits of calcium in the brain|Intracranial calcifications|Intracerebral calcifications The presence of calcium deposition within brain structures. HP:0003844 Small epiphyses of the upper limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003844 UMLS:C4025556 Small end part of upper limb bones HP:0002511 Alzheimer disease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002511 MONDO:0004975|UMLS:C1863051|MSH:C536595|DOID:10652|SNOMEDCT_US:230267005|SNOMEDCT_US:26929004|MSH:D000544|UMLS:C0002395 Alzheimer disease|Late-onset form of familial 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. HP:0003843 Round epiphyses of the upper limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003843 UMLS:C4025557 Round end part of upper limb bones HP:0002512 Brain stem compression biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002512 SNOMEDCT_US:25816005|SNOMEDCT_US:5582005|UMLS:C0270680 HP:0003842 Irregular epiphyses of the upper limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003842 UMLS:C4025558 Irregular end part of upper limb bones HP:0002528 Granulovacuolar degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002528 UMLS:C0333454|SNOMEDCT_US:90506004 Electron-dense granules within double membrane-bound cytoplasmic vacuoles. HP:0002529 Neuronal loss in central nervous system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002529 UMLS:C1850496 Neuronal loss in CNS|Neuronal loss|Loss of brain cells HP:0003859 Cortical diaphyseal thickening of the upper limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003859 UMLS:C4025548 HP:0002526 Deficit in nonword repetition biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002526 UMLS:C4025702 Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory. HP:0003858 Cortical diaphyseal irregularity of the upper limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003858 UMLS:C4025549 HP:0002527 Falls biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002527 SNOMEDCT_US:161898004|SNOMEDCT_US:1912002|UMLS:C0085639 Falls HP:0003852 Normal density transverse bands in metaphyses of the upper limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003852 UMLS:C4025553 HP:0003851 Lytic defects in metaphyses of the upper limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003851 UMLS:C4025554 HP:0002521 Hypsarrhythmia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002521 SNOMEDCT_US:28055006|MSH:D013036|UMLS:C0684276 Hypsarrhythmia by EEG Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG). HP:0003850 Upper-limb metaphyseal irregularity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003850 UMLS:C4021720 Irregular metaphyses of the upper limbs|Irregular wide portion of upper limb bones HP:0002524 Cataplexy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002524 UMLS:C0007384|MSH:D002385|SNOMEDCT_US:46263000 A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions. HP:0003856 Upper limb metaphyseal widening biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003856 UMLS:C4021719 Broad wide portion of upper limb bone|Wide/broad metaphyses of the upper limbs Increased width (breadth) of metaphyses of the arms. HP:0003855 Spurred metaphyses of the upper limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003855 UMLS:C4025550 Spurred wide portion of upper limb bone HP:0002522 Areflexia of lower limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002522 UMLS:C1856694 Absent lower limb tendon reflexes|Areflexia in lower limbs|Areflexia of the lower limbs|Areflexia, lower limbs Inability to elicit tendon reflexes in the lower limbs. HP:0003854 Sclerosis of metaphyses of the upper limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003854 UMLS:C4025551 Increased bone density in wide portion of the upper limb bones HP:0003853 Sclerosis with transverse striations in metaphyses of the upper limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003853 UMLS:C4025552 HP:0025219 Triggered by vaccination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025219 Triggered by vaccination|Triggered by immunization|Vaccination triggered symptoms Applies to a sign or symptom that is provoked or brought about by a vaccination. HP:0002575 Tracheoesophageal fistula biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002575 MSH:D014138|SNOMEDCT_US:95435007|MEDDRA:10044310|UMLS:C0040588|Fyler:4202 Abnormal connection between trachea and esophagus An abnormal connection (fistula) between the esophagus and the trachea. HP:0025211 Triggered by ethanol ingestion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025211 Ethanol ingestion triggered symptoms|Triggered by alcohol ingestion Applies to a sign or symptom that is provoked or brought about by drinking or otherwise ingesting ethanol. HP:0002576 Intussusception biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002576 MEDDRA:10022863|SNOMEDCT_US:49723003|UMLS:C0021933|SNOMEDCT_US:35327006|MSH:D007443 An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine. HP:0001245 Small thenar eminence biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001245 UMLS:C1846474 Hypoplastic thenar eminences|Thenar hypoplasia|Thenar muscle hypoplasia|Decreased thenar eminence Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb. HP:0025212 Triggered by fasting biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025212 Fasting triggered symptoms|Triggered by fasting|Fasting triggered attacks Applies to a sign or symptom that is provoked or brought about by abstaining from eating food (fasting). HP:0002573 Hematochezia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002573 SNOMEDCT_US:236068001|SNOMEDCT_US:405729008|UMLS:C0018932|MSH:D006471 Rectal bleeding|Recurrent rectal bleeding The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus. HP:0025213 Triggered by galactose ingestion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025213 Triggered by ingestion of lactose-containing milk Applies to a sign or symptom that is provoked or brought about by eating or drinking galactose. Galactose usually is ingested as lactose, which is composed of equimolar amounts of glucose and galactose. HP:0025214 Triggered by heat biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025214 Triggered by heat|Heat triggered symptoms Applies to a sign or symptom that is provoked or brought about by exposure to heat. HP:0002574 Episodic abdominal pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002574 UMLS:C0262527|UMLS:C3808022 Intermittent abdominal pain An intermittent form of abdominal pain. HP:0025215 Triggered by febrile illness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025215 Triggered by fever|Febrile illness triggered symptoms Applies to a sign or symptom that is provoked or brought about by febrile illness. HP:0002579 Gastrointestinal dysmotility biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002579 UMLS:C1836923 GI dysmotility Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes. HP:0001248 Short tubular bones of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001248 UMLS:C4025795 Shortened short tubular bones of the hand Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals. HP:0001249 Intellectual disability biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001249 MSH:D008607|UMLS:C3714756|SNOMEDCT_US:91138005|UMLS:C4020876|SNOMEDCT_US:247578003|UMLS:C0025362|UMLS:C0423903|SNOMEDCT_US:228156007|UMLS:C1843367|UMLS:C0917816 Intellectual disability|Mental deficiency|Mental retardation|Mental retardation, nonspecific|Mental-retardation|Nonprogressive mental retardation|Nonprogressive intellectual disability|Low intelligence|Dull intelligence|Poor school performance 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. HP:0025216 Triggered by heavy meal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025216 Triggered by overeating|Heavy meal triggered symptoms Applies to a sign or symptom that is provoked or brought about by eating large quantities of food, for instance, by a heavy meal. HP:0002577 Abnormal stomach morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002577 UMLS:C4025699 Abnormality of the stomach An abnormality of the stomach. HP:0025217 Triggered by high-fat diet biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025217 High-fat diet triggered symptoms|Triggered by high-fat diet Applies to a sign or symptom that is provoked or brought about by eating a diet high in lipids. HP:0025218 Triggered by hyperventilation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025218 Triggered by hyperventilation|Hyperventilation triggered symptoms Applies to a sign or symptom that is provoked or brought about by excessively rapid and deep breathing. HP:0002578 Gastroparesis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002578 SNOMEDCT_US:235675006|UMLS:C0152020|MSH:D018589|SNOMEDCT_US:196753007 Delayed gastric emptying Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction. HP:0002571 Achalasia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002571 UMLS:C0014848|MEDDRA:10030136|MSH:D004931|SNOMEDCT_US:45564002 Achalasia of the esophagus A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus. HP:0001241 Capitate-hamate fusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001241 UMLS:C1857002 Fusion of hamate and capitate|Fused capitate and hamate|Capitate-hamate fusions|Fusion of capitate and hamate HP:0002572 Episodic vomiting biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002572 UMLS:C1838993|UMLS:C1857202 Episodic vomiting|Frequent vomiting Paroxysmal, recurrent episodes of vomiting. HP:0025210 Triggered by glucose ingestion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025210 Applies to a sign or symptom that is provoked or brought about by eating or drinking glucose. HP:0002570 Steatorrhea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002570 SNOMEDCT_US:66187002|MSH:D045602|UMLS:C0038238|SNOMEDCT_US:27868004 Fatty stool|Fat in feces Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats. HP:0025208 Triggered by carbohydrate ingestion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025208 Carbohydrate ingestion triggered symptoms|Triggered by carbohydrate ingestion Applies to a sign or symptom that is provoked or brought about by eating or drinking carbohydrates. HP:0025209 Triggered by fructose ingestion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025209 Trigged by fruit sugar Applies to a sign or symptom that is provoked or brought about by eating or drinking fructose. HP:0002586 Peritonitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002586 SNOMEDCT_US:48661000|MSH:D010538|UMLS:C0031154 Inflammation of the peritoneum Inflammation of the peritoneum. HP:0025200 Muscle fiber actin filament accumulation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025200 Muscle fibre actin filament accumulation|Accumulation in muscle cells of filaments composed of actin. HP:0025201 Abnormal circulating apolipoprotein concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025201 Abnormal apolipoprotein level A deviation from the normal concentration in blood of an apolipoprotein, i.e., of a protein that binds lipids to form lipoprotein and is thereby responsible for the transport of lipids in the blood and lymph circulation. HP:0001256 Intellectual disability, mild biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001256 UMLS:C0026106|SNOMEDCT_US:86765009 Mild and nonprogressive mental retardation|Mental retardation, borderline-mild|Intellectual disability, mild|Mild mental retardation|Mental retardation, mild Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69. HP:0002587 Projectile vomiting biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002587 UMLS:C0221151|SNOMEDCT_US:8579004 Projectile vomiting Vomiting that ejects the gastric contents with great force. HP:0002584 Intestinal bleeding biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002584 UMLS:C0267373|SNOMEDCT_US:712510007 Intestinal bleeding|Intestinal hemorrhage Bleeding from the intestines. HP:0025202 Elevated circulating apolipoprotein A-IV concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025202 Elevated apolipoprotein A-IV level An increased concentration in blood of apolipoprotein A-IV, a major component of HDL and chylomicrons that has a role in VLDL secretion and catabolism and is required for efficient activation of lipoprotein lipase by ApoC-II. HP:0001254 Lethargy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001254 MSH:D053609|SNOMEDCT_US:214264003|UMLS:C0023380 Lethargy A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating. HP:0002585 Abnormality of the peritoneum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002585 UMLS:C4025698 An abnormality of the peritoneum. HP:0025203 Caput medusae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025203 Palm tree sign Distended and engorged umbilical veins which are seen radiating from the umbilicus across the abdomen to join systemic veins. HP:0001259 Coma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001259 ICD-10:R40.2|UMLS:C0009421|SNOMEDCT_US:371632003|MSH:D003128 Coma Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli. HP:0025204 Triggered by biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025204 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. HP:0025205 Triggered by breast feeding biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025205 Breastfeeding triggered symptoms|Triggered by breastfeeding Applies to a sign or symptom that is provoked or brought about by breast feeding in an infant. HP:0002588 Duodenal ulcer biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002588 SNOMEDCT_US:367474008|SNOMEDCT_US:51868009|MEDDRA:10013836|MSH:D004381|UMLS:C0013295 An erosion of the mucous membrane in a portion of the duodenum. HP:0025206 Triggered by cold biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025206 Cold triggered symptoms|Triggered by cold temperature Applies to a sign or symptom that is provoked or brought about by exposure to cold surroundings. HP:0001257 Spasticity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001257 SNOMEDCT_US:397790002|SNOMEDCT_US:221360009|MSH:D009128|UMLS:C0026838 Muscular spasticity|Muscle spasticity|Involuntary muscle stiffness, contraction, or spasm A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. HP:0001258 Spastic paraplegia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001258 SNOMEDCT_US:192967009|UMLS:C0037772|MSH:D010264 Spastic paraplegia, lower limb Spasticity and weakness of the leg and hip muscles. HP:0002589 Gastrointestinal atresia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002589 UMLS:C4025697 GI atresia HP:0025207 Triggered by dehydration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025207 Triggered by dehydration|Dehydration triggered symptoms Applies to a sign or symptom that is provoked or brought about by being dehydrated, i.e., by a deficit in total body water. HP:0002582 Chronic atrophic gastritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002582 SNOMEDCT_US:84568007|UMLS:C0017154|MSH:D005757 A form of chronic gastritis associated with atrophic gastric mucous membrane. HP:0001251 Ataxia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001251 SNOMEDCT_US:85102008|UMLS:C0007758|MSH:D002524 Cerebellar ataxia Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). HP:0002583 Colitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002583 UMLS:C0009319|SNOMEDCT_US:64226004|MSH:D003092 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. HP:0001252 Hypotonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001252 SNOMEDCT_US:398151007|SNOMEDCT_US:398152000|UMLS:C0026827|MSH:D009123 Central hypotonia|Peripheral hypotonia|Muscle hypotonia|Low or weak muscle tone|Low muscle tone|Muscular 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. HP:0002580 Volvulus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002580 UMLS:C0042961|SNOMEDCT_US:90738007|SNOMEDCT_US:9707006|MSH:D045822 Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue. HP:0001250 Seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001250 SNOMEDCT_US:91175000|SNOMEDCT_US:128613002|SNOMEDCT_US:246545002|SNOMEDCT_US:84757009|UMLS:C0014544|SNOMEDCT_US:313307000|UMLS:C0036572|MSH:D012640|MSH:D004827 Epilepsy|Seizures|Seizures|Epileptic seizure A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. HP:0001222 Spatulate thumbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001222 UMLS:C0241395 Spoon shaped thumbs Spoon-shaped, broad thumbs. HP:0002553 Highly arched eyebrow biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002553 UMLS:C4020849|UMLS:C1868571 Bowed and upward slanting eyebrows|Arched eyebrows|Thick, flared eyebrows|Highly arched eyebrow|Broad, arched eyebrows|High, rounded eyebrows|High-arched eyebrows|High arched eyebrows Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape. HP:0003885 Undermodeled humerus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003885 UMLS:C4025529 HP:0001223 Pointed proximal second through fifth metacarpals biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001223 UMLS:C1854787 All of the metacarpal bones of the hand have a pointed proximal appearance. HP:0003884 Triangular humerus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003884 UMLS:C4025530 Triangular long bone of upper arm HP:0001220 Interphalangeal joint contracture of finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001220 UMLS:C4021784 Interphalangeal joint flexion contractures Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue. HP:0003883 Tapered humerus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003883 UMLS:C4025531 Tapered long bone of upper arm HP:0002552 Trichodysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002552 UMLS:C4020850|UMLS:C4025700 Generalized trichodysplasia Developmental dysplasia of the hair. HP:0003882 Slender humerus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003882 UMLS:C4021851 Slender long bone of upper arm Reduction in diameter of the humerus. HP:0003889 Abnormality of the deltoid tuberosities biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003889 UMLS:C4025527 HP:0002557 Hypoplastic nipples biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002557 SNOMEDCT_US:268290005|UMLS:C0432355 Small nipples|Nipple hypoplasia Underdevelopment of the nipple. HP:0001226 obsolete Acral ulceration and osteomyelitis leading to autoamputation of digits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001226 HP:0001227 Abnormality of the thenar eminence biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001227 UMLS:C4021783 Thenar abnormality An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb. HP:0002558 Supernumerary nipple biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002558 Fyler:4234|SNOMEDCT_US:50956007|UMLS:C0266011|MSH:C562557 Accessory nipple|Increased nipple number|accessory mamilla|accessory mamillas|Accessory nipples|Supernumerary nipples Presence of more than two nipples. HP:0003888 Flattened humeral heads biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003888 UMLS:C3808869 Flattended head of long bone in upper arm HP:0002555 Absent pubic hair biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002555 UMLS:C1859391 Absent pubic hair Absence of pubic hair. HP:0003887 Abnormality of the humeral heads biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003887 UMLS:C4025528 Abnormal head of long bone in upper arm HP:0001225 Wrist swelling biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001225 UMLS:C0241760 Wrist swelling HP:0003886 Wide humerus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003886 UMLS:C4021715 Wide long bone of upper arm|Broad humerus HP:0003881 Humeral sclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003881 UMLS:C4021716 Increased bone density in long bone of upper arm|Sclerosis of humerus HP:0002550 Absent facial hair biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002550 UMLS:C1848192 Absent facial hair Absence of facial hair. HP:0003880 Sclerotic foci of the humerus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003880 UMLS:C4021717 Humeral sclerotic foci HP:0001239 Wrist flexion contracture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001239 UMLS:C0409345|SNOMEDCT_US:202275008 Wrist contracture|Wrist flexion deformity 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. HP:0001233 2-3 finger syndactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001233 UMLS:C0432055|SNOMEDCT_US:205139009 Syndactyly 2nd-3rd fingers|Webbed 2nd-3rd fingers|Syndactyly, 2-3 finger Syndactyly with fusion of fingers two and three. HP:0003896 Irregular humeral epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003896 UMLS:C4025524 Irregular end part of long bone in upper arm HP:0002564 obsolete Malformation of the heart and great vessels biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002564 HP:0003895 Flattened humeral epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003895 UMLS:C4025525 Flattened end part of long bone in upper arm HP:0001234 Hitchhiker thumb biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001234 UMLS:C1857269 Abducted thumb|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. HP:0002562 Low-set nipples biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002562 UMLS:C1836933 Low-set nipples Placement of the nipples at a lower than normal location. HP:0003894 Delayed humeral epiphyseal ossification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003894 UMLS:C4280543|UMLS:C4021712 Delayed maturation/delayed ossification of the humeral epiphyses|Delayed maturation of the end part of the long bone in upper arm A delay in the process of formation and maturation of the humeral epiphysis. HP:0001231 Abnormal fingernail morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001231 UMLS:C4021782 Abnormality of the fingernails|Abnormal fingernails An abnormality of the fingernails. HP:0003893 Advanced ossification of the humeral epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003893 UMLS:C4025526|UMLS:C4020836 Accelerated maturation of end part of long bone in upper arm|Advanced maturation of the humeral epiphyses Ossification of the humeral epiphysis at an earlier age than normal. HP:0002563 Constrictive pericarditis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002563 MSH:D010494|UMLS:C0031048|SNOMEDCT_US:85598007 Presence of a thickened, fibrotic pericardium that forms a non-compliant shell around the heart, and resulting from chronic inflammation of the pericardium. HP:0001232 Nail bed telangiectasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001232 UMLS:C1838167 Nail bed telangiectases Telangiectases in the area of the nails. HP:0001238 Slender finger biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001238 UMLS:C1857482 Slender finger|Narrow fingers|Slender fingers|thin fingers Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual. HP:0003899 Round humeral epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003899 UMLS:C4025521 Round end part of long bone in upper arm HP:0002566 Intestinal malrotation biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002566 SNOMEDCT_US:48641006|UMLS:C0221210|SNOMEDCT_US:253789002|MSH:C562456|SNOMEDCT_US:29980002|MEDDRA:10064024 Malrotation|Gut 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. HP:0003898 Large humeral epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003898 UMLS:C4025522 Large end part of long bone in upper arm HP:0003897 Irregular ossification of the humeral epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003897 UMLS:C4025523|UMLS:C4280542 Irregular maturation of the end part of the long bone in upper arm HP:0003892 Absent humeral epiphyseal ossification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003892 UMLS:C4021713 Absent ossification of the humeral epiphyses|Absent maturation of end part of long bone in upper arm Lack of formation of bone in the epiphysis of the humerus. HP:0002561 Absent nipple biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002561 SNOMEDCT_US:248820000|UMLS:C0425795 Athelia|Absent nipples|Absent nipple Congenital failure to develop, and absence of, the nipple. HP:0001230 Broad metacarpals biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001230 UMLS:C1842229 Wide metacarpals|Wide long bones of hand Abnormally broad metacarpal bones. HP:0003891 Abnormality of the humeral epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003891 UMLS:C4021714 Abnormality of end part of the long bone of the upper arm|Abnormality of the humeral epiphyses An anomaly of the humeral epiphysis. HP:0003890 Prominent deltoid tuberosities biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003890 UMLS:C2674600 HP:0002705 High, narrow palate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002705 UMLS:C1837404 Narrow, highly arched roof of mouth|Gothic palate|High narrow palate|Narrow, high-arched palate|High vaulted palate|Narrow and high arched palate|Narrow, high-arched roof of mouth|Narrow, highly arched palate|High, narrow palate The presence of a high and narrow palate. HP:0002703 Abnormality of skull ossification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002703 UMLS:C4280553|UMLS:C4025686|UMLS:C4280552|UMLS:C4280551|UMLS:C4280550 Abnormality of bone mineralization of cranium|Abnormality of bone mineralization of skull|Abnormality of bone calcification of cranium|Abnormality of ossification of cranium|Abnormality of bone mineralization of calvarium|Abnormality of bone calcification of skull|Abnormality of bone calcification of calvarium|Abnormality of bone formation of calvarium|Abnormality of ossification of calvarium|Abnormality of bone formation of cranium|Abnormality of skull bone formation An abnormality of the process of ossification of the skull. HP:0002708 Prominent median palatal raphe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002708 UMLS:C1845108 Prominent medial palatal suture|Prominent central palatal ridge|Prominent central ridge on roof of the mouth Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate. HP:0002707 Palate telangiectasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002707 UMLS:C4280267|UMLS:C1857699 Palate teleangiectases|Palatal telangiectasia|Spider veins of the roof of the mouth|Palatal spider veins|Palate telangiectases|Palatal angioectasia|Telangiectasia of the roof of the mouth The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate. HP:0002700 Large foramen magnum biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002700 UMLS:C4280555|UMLS:C4280554|UMLS:C4073291|UMLS:C1844508 Big foramen magnum|Increased diameter of foramen magnum|Wide foramen magnum|enlarged foramen magnum|Hyperplasia of foramen magnum|Increased circumference of foramen magnum|Dilation of foramen magnum An abnormal increase in the size of the foramen magnum. HP:0001406 Intrahepatic cholestasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001406 SNOMEDCT_US:4637005|MSH:D002780|UMLS:C0008372 Impaired release of bile from liver Impairment of bile flow due to obstruction in the small bile ducts within the liver. HP:0002737 Thick skull base biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002737 UMLS:C1839507 Increased thickness of skull base|Thick skull base|Increased thickness of bone of skull base HP:0001407 Hepatic cysts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001407 UMLS:C0267834|SNOMEDCT_US:85057007 Liver cysts HP:0002738 Hypoplastic frontal sinuses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002738 UMLS:C1859682|UMLS:C4280549|UMLS:C4280548 Hypotrophic frontal sinus|Small frontal sinuses|Decreased pneumatization of frontal sinus|Decreased volume of frontal sinuses|Underdeveloped frontal sinuses Underdevelopment of frontal sinus. HP:0001404 Hepatocellular necrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001404 UMLS:C1855038 Hepatocellular loss|Death of liver cells HP:0001405 Periportal fibrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001405 UMLS:C1849766 The presence of fibrosis affecting the interlobular stroma of liver. HP:0001408 Bile duct proliferation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001408 SNOMEDCT_US:20239009|UMLS:C0267818 Proliferation of bile canaliculi Proliferative changes of the bile ducts. HP:0001409 Portal hypertension biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001409 MSH:D006975|SNOMEDCT_US:34742003|UMLS:C0020541 Increased pressure in the portal vein. HP:0002730 Chronic noninfectious lymphadenopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002730 UMLS:C1858970 A chronic form of lymphadenopathy that is not related to infection. HP:0001402 Hepatocellular carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001402 UMLS:C1862761|UMLS:C2239176|SNOMEDCT_US:109841003|SNOMEDCT_US:25370001|NCIT:C3099|UMLS:C1867955|SNOMEDCT_US:187769009|MSH:D006528 Increased incidence of hepatocellular carcinoma|Increased hepatocellular carcinoma risk A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver. HP:0002733 Abnormality of the lymph nodes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002733 UMLS:C0149727 Abnormal lymph node histology|Abnormality of the lymph nodes A lymph node abnormality. HP:0001403 Macrovesicular hepatic steatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001403 UMLS:C1837256 Macrovesicular steatosis A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes. HP:0002731 Decreased lymphocyte apoptosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002731 UMLS:C1858969 Defective lymphocyte apoptosis A reduction in the rate of apoptosis in lymphocytes. HP:0001400 obsolete Hepatic abscesses due to immunodeficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001400 HP:0001401 Intrahepatic biliary dysgenesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001401 UMLS:C1859235 HP:0002732 Lymph node hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002732 UMLS:C4025683|UMLS:C1865377 Small lymph nodes Underdevelopment of the lymph nodes. HP:0001417 X-linked inheritance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001417 SNOMEDCT_US:263934009|UMLS:C0241764|MSH:D050172 X-linked form|X-linked A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. HP:0002748 Rickets biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002748 MSH:D012279|SNOMEDCT_US:41345002|UMLS:C0035579 Weak and soft bones Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets. HP:0002749 Osteomalacia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002749 SNOMEDCT_US:4598005|UMLS:C0029442 Softening of the bones Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets. HP:0002747 Respiratory insufficiency due to muscle weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002747 UMLS:C3806467 Respiratory muscle weakness|Decreased lung function due to weak breathing muscles|Respiratory distress due to muscle weakness|Respiratory failure due to muscle weakness|Decreased respiratory function due to muscle weakness HP:0001419 X-linked recessive inheritance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001419 UMLS:C1845977 X-linked recessive A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. HP:0002740 Recurrent E. coli infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002740 UMLS:C0014836|MSH:D004927|SNOMEDCT_US:71057007 E coli infections|E coli infections, recurrent Increased susceptibility to infections with Escherichia coli, as manifested by recurrent episodes of infection with this agent. HP:0001410 Decreased liver function biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001410 UMLS:C3279149|SNOMEDCT_US:75183008|MSH:D008107|SNOMEDCT_US:77981007|UMLS:C0232744|UMLS:C0086565 Decreased liver function|Liver dysfunction|Hepatopathy|Liver dysfunction, mild Reduced ability of the liver to perform its functions. HP:0002741 Recurrent Serratia marcescens infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002741 UMLS:C4025682 Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection. HP:0001413 Micronodular cirrhosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001413 UMLS:C0267812|SNOMEDCT_US:21861000 A type of cirrhosis characterized by the presence of small regenerative nodules. HP:0002744 Bilateral cleft lip and palate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002744 SNOMEDCT_US:1085331000119107|UMLS:C1398522 Right and left cleft lip and palate|Bilateral cleft lip and cleft palate Cleft lip and cleft palate affecting both sides of the face. HP:0001414 Microvesicular hepatic steatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001414 UMLS:C1850415 Microvesicular steatosis A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes. HP:0002745 Oral leukoplakia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002745 MSH:D007972|MSH:D007971|UMLS:C0023532|SNOMEDCT_US:9187004|SNOMEDCT_US:414603003|UMLS:C1704317 Oral white patch|Oral white plaque|Oral idiopathic leukoplakia|Oral leucoplakia|Oral leukoplasia|Oral idiopathic keratosis|Oral idiopathic white patch|leukokeratosis|Oral leukokeratosis A thickened white patch on the oral mucosa that cannot be rubbed off. HP:0002742 Recurrent Klebsiella infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002742 UMLS:C4021751 Klebsiella infections, recurrent Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection. HP:0002743 Recurrent enteroviral infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002743 UMLS:C4025681 Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection. HP:0001412 Enteroviral hepatitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001412 UMLS:C1843995 Inflammation of the liver due to infection with enterovirus. HP:0002715 Abnormality of the immune system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002715 UMLS:C4021753 Abnormality of the immune system|Immunological abnormality An abnormality of the immune system. HP:0002716 Lymphadenopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002716 SNOMEDCT_US:30746006|MSH:D000072281|UMLS:C0497156 Swollen lymph nodes|Lymph node hyperplasia Enlargment (swelling) of a lymph node. HP:0002714 Downturned corners of mouth biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002714 UMLS:C1866195 Downturned corners of mouth|Downturned mouth|Downturned oral commisures|Downturned corners of the mouth A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure. HP:0002719 Recurrent infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002719 UMLS:C0239998 Predisposition to infections|Increased frequency of infection|Susceptibility to infection|Recurrent infections|infections, recurrent|Frequent infections|Frequent, severe infections Increased susceptibility to infections. HP:0002717 Adrenal overactivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002717 UMLS:C4025685 HP:0002718 Recurrent bacterial infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002718 SNOMEDCT_US:428875002|UMLS:C4020846|UMLS:C2748958|UMLS:C1844383 Prone to bacterial infection|Susceptibility to pyogenic infection|Increased susceptibility to bacterial infections|Frequent bacterial infections|Frequent pyogenic infections|Recurrent bacterial infections|Recurrent pyogenic infections|Recurrent major bacterial infections|Bacterial infections, recurrent Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection. HP:0002711 Exaggerated median tongue furrow biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002711 UMLS:C1845109 Deep median tongue furrow|Deep central lingual furrow|Deep central tongue furrow|Exaggerated median lingual furrow|Deep median tongue groove|Deep central lingual groove|Deep central tongue groove|Deep median lingual furrow|Deep median lingual groove Increased depth of the median tongue furrow. HP:0002710 Commissural lip pit biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002710 UMLS:C0399605 Lip pits at corners of the mouth|Pits at the corners of the lips|Commissural pit|Commissural labial pits A depression located at an oral commissure. HP:0002726 Recurrent Staphylococcus aureus infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002726 UMLS:C2673462 Staphylococcus aureus infections, recurrent Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection. HP:0002724 Recurrent Aspergillus infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002724 UMLS:C4021752 Aspergillus infections, recurrent An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections. HP:0002725 Systemic lupus erythematosus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002725 SNOMEDCT_US:55464009|MSH:D008180|UMLS:C0024141 SLE A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. HP:0002728 Chronic mucocutaneous candidiasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002728 UMLS:C0006845|SNOMEDCT_US:234568006|MSH:D002178 Mucocutaneous candidiasis|Chronic candidiasis of mucosa, skin and nails Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails. HP:0002729 Follicular hyperplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002729 UMLS:C4014733 Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers. HP:0002722 Recurrent abscess formation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002722 UMLS:C4025684 An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses. HP:0002723 Absence of bactericidal oxidative respiratory burst in phagocytes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002723 UMLS:C1844385 An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity. HP:0002720 Decreased circulating IgA level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002720 SNOMEDCT_US:29260007|MSH:D017098|UMLS:C0162538 Decreased IgA|Gamma-A globulin deficiency|Decreased immunoglobulin A|Low levels of immunoglobulin A|Reduced IgA levels|IgA deficiency Decreased levels of immunoglobulin A (IgA). HP:0002721 Immunodeficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002721 MSH:D007153|SNOMEDCT_US:234532001|UMLS:C0021051 Decreased immune function|Immune deficiency Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. HP:0012066 Increased urinary disaccharide excretion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012066 UMLS:C4023062 Increased concentration of disaccharide in the urine. HP:0012067 Glycopeptiduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012067 UMLS:C4023061 High urine glycopeptide levels Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues. HP:0012068 Aspartylglucosaminuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012068 MSH:D054880|SNOMEDCT_US:54954004|UMLS:C0268225 High urine aspartylglucosamine levels Excretion of excess amounts of aspartylglucosamine in the urine. HP:0012069 Keratan sulfate excretion in urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012069 UMLS:C4023060 Keratan sulphate excretion in urine An increased concentration of keratan sulfate in the urine. HP:0012060 Acral lentiginous melanoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012060 UMLS:C0346037|SNOMEDCT_US:16974005|SNOMEDCT_US:254732008 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. HP:0012061 Urinary excretion of sialylated oligosaccharides biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012061 UMLS:C2673302 Increased urinary sialyloligosaccharides Excretion of oligosaccharides conjugated to sialic acid in the urine. HP:0012062 Bone cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012062 MSH:D001845|UMLS:C0005937|SNOMEDCT_US:203467005|SNOMEDCT_US:203465002|SNOMEDCT_US:66954000|SNOMEDCT_US:112643007 Bone cyst|Bone cysts A fluid filled cavity that develops with a bone. HP:0012063 Aneurysmal bone cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012063 SNOMEDCT_US:203468000|UMLS:C0152244|MSH:D017824|SNOMEDCT_US:76000001 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. HP:0012064 Unicameral bone cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012064 UMLS:C4082185|SNOMEDCT_US:203467005|SNOMEDCT_US:112643007 A benign fluid filled simple cyst of bone filled with serous fluid. HP:0012065 Multiple bony cystic lesions biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012065 UMLS:C4023063 Multiple bony cystic lesions Presence of multiple cystic changes in multiple areas or multiple bones. HP:0025376 Hyperglutaminuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025376 Glutaminuria An increased concentration of glutamine in the urine. HP:0000077 Abnormality of the kidney biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000077 SNOMEDCT_US:90708001|SNOMEDCT_US:44513007|UMLS:C0022658|UMLS:C0266292|MSH:D007674 Abnormality of the kidney|Renal anomalies|Abnormal kidney|Renal anomaly An abnormality of the kidney. HP:0000076 Vesicoureteral reflux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000076 Fyler:4510|SNOMEDCT_US:197811007|UMLS:C0042580|MSH:D014718 Vesico-ureteral reflux|Ureteral reflux|Vesicoureteric reflux|Ureteric 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. HP:0025377 Triggered by exertion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025377 Exertion triggered symptoms|Triggered by physical exercise Applies to a sign or symptom that is provoked or brought about by exertion or physical exercise. HP:0000079 Abnormality of the urinary system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000079 UMLS:C4021821 Urinary tract anomalies|Urinary tract abnormalities|Urinary tract abnormality An abnormality of the urinary system. HP:0000078 Abnormality of the genital system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000078 UMLS:C0281966|UMLS:C0744356 Genital abnormalities|Abnormality of the reproductive system|Genital defects|Genital abnormality|Genital anomalies An abnormality of the genital system. HP:0025379 Anti-thyroid peroxidase antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025379 The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase. HP:0000071 Ureteral stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000071 SNOMEDCT_US:95574003|UMLS:C0521618 Narrowing of the ureter The presence of a stenotic, i.e., constricted ureter. HP:0025370 Abnormal ossification of the sacrum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025370 Abnormal bone tissue formation (ossification) affecting the sacrum. HP:0000070 Ureterocele biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000070 SNOMEDCT_US:12818004|UMLS:C0041960|MSH:D014518 A ureterocele is a congenital saccular dilatation of the distal segment of the ureter. HP:0025371 Delayed ossification of the sacrum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025371 Formation of the sacrum bone tissue occurs later than age-adjusted norms. HP:0025372 Loud snoring biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025372 Have loud snoring|Has loud snoring|Snores loudly|Heavy snoring Particularly loud snoring, snoring at high volume. HP:0000073 Ureteral duplication biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000073 UMLS:C0221365|SNOMEDCT_US:49496001 Double ureter A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder. HP:0000072 Hydroureter biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000072 SNOMEDCT_US:69758005|UMLS:C0521620|UMLS:C4020897|SNOMEDCT_US:95576001 Uroureter|Swelling of ureter|Ureteral dilatation|Megaureter The distention of the ureter with urine. HP:0025373 Interictal EEG abnormality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025373 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. HP:0000075 Renal duplication biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000075 SNOMEDCT_US:30275001|UMLS:C0266298 Supernumerary kidney|Extra kidney A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters. HP:0025374 Duplicated odontoid process biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025374 The presence of two distinct odontoid processes. The odontoid process, also known as the dens of the axis, is a protuberance of the C2 vertebral body around which the first vertebra rotates. HP:0000074 Ureteropelvic junction obstruction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000074 SNOMEDCT_US:95575002|MSH:C537373|UMLS:C0521619 Pelviureteric junction obstruction|Ureteropelvic junction stenosis Blockage of urine flow from the renal pelvis to the proximal ureter. HP:0025375 Orthotopic os odontoideum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025375 Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process.With dystopic os odontoideum, the ossicle is located near the basion or is fused with the clivus. HP:0012055 Ciliary body melanoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012055 SNOMEDCT_US:255015006|NCIT:C3224|UMLS:C0346379 Malignant tumor of melanocytes of the ciliary body. HP:0012056 Cutaneous melanoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012056 SNOMEDCT_US:372244006|SNOMEDCT_US:2092003|MSH:D008545|NCIT:C3224|UMLS:C0025202 The presence of a melanoma of the skin. HP:0012057 Superficial spreading melanoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012057 SNOMEDCT_US:254730000|SNOMEDCT_US:55320002|UMLS:C0334438 A type of melanoma that is flat and irregular in shape and color, with different shades of black and brown. HP:0012058 Nodular melanoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012058 SNOMEDCT_US:2142002|SNOMEDCT_US:254731001|UMLS:C0334424 A type of melanoma that starts as a raised area that is usually dark blackish-blue or bluish-red but may not have any color. HP:0012059 Lentigo maligna melanoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012059 SNOMEDCT_US:302837001|UMLS:C2739810|SNOMEDCT_US:44474009 A subtype of melanoma in situ that typically develops on sun-damaged skin. The lesion is typically a large, irregularly pigmented macule that has developed from an ordinary lentigo (a small pigmented spot on the skin with a clearly-defined edge). Change to a malignant lentigo typically takes place over 20 years or more, and many patients accept the change as a consequence of aging. HP:0012050 Anasarca biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012050 SNOMEDCT_US:442433009|UMLS:C0151603|SNOMEDCT_US:16740003|MSH:D004487 Extreme generalized edema An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space. HP:0012051 Reactive hypoglycemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012051 UMLS:C0271710|SNOMEDCT_US:237638000|MSH:D007003|SNOMEDCT_US:317006 Postprandial hypoglycemia|Low blood sugar after a meal Hypoglycermia following a meal (or more generally, after intake of glucose). HP:0012052 Low serum calcitriol biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012052 UMLS:C4023065 Low serum 1,25-dihydroxyvitamin D3|Low serum 1,25-dihydroxycholecalciferol A reduced concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3. HP:0012053 Low serum calcifediol biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012053 UMLS:C4023064 Low serum 25-hydroxycholecalciferol|Low serum calcidiol A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3. HP:0012054 Choroidal melanoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012054 SNOMEDCT_US:255021005|NCIT:C3224|UMLS:C0346388 Malignant tumor of melanocytes of the choroid. The classic appearance of choroidal melanoma is a pigmented dome-shaped or collar button-shaped tumor with an associated exudative retinal detachment. Choroidal melanoma is usually pigmented, but can be variably pigmented and even amelanotic (non-pigmented). HP:0025367 Trichoepithelioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025367 A benign hair follicle tumor whose tumor cells form rudimentary hair follicles but not actual hair shafts. A trichoepithelioma is usually less than one centimeter, firm, round, and shihy with yellow, pink, brown, or bluish color. They may occur multiply, usually on the face, and may gradually increase in number with age. HP:0025368 Abnormality of growth plate morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025368 A structural anomaly of the growth plates (epiphyseal plates), areas of cartilage located near the ends of long bones that are located between the metaphysis (widened part of the shaft of the bone) and the epiphysis (end of the bone) and in which growth occurs in the developing bone. After conclusion of bone growth, the growth plates ossify (harden into solid bone). HP:0000089 Renal hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000089 SNOMEDCT_US:32659003|UMLS:C0266295 Hypoplastic kidneys|Underdeveloped kidneys|Small kidneys|Hypoplastic kidney Hypoplasia of the kidney. HP:0025369 Thick growth plates biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025369 Increased thickness (dimension along the axis of the bone) of the growth plate. HP:0000080 Abnormality of reproductive system physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000080 UMLS:C4021820|UMLS:C4020896 Abnormality of reproductive system physiology|Abnormality of genital physiology|Genital functional abnormality An abnormal functionality of the genital system. HP:0000081 Duplicated collecting system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000081 UMLS:C1858565 Double urinary collecting systems on intravenous pyelography|Double collecting system|Duplex collecting system|Duplicated renal collecting system A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice. HP:0025360 Polycalycosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025360 Increased number of calices of the kidney. HP:0025361 Abnormality of medullary pyramid morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025361 A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. HP:0000083 Renal insufficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000083 UMLS:C0035078|SNOMEDCT_US:42399005|UMLS:C1565489|UMLS:C1839604|SNOMEDCT_US:236423003|MSH:D051437 Renal failure|Renal failure in adulthood A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. HP:0025362 Renal medullary pyramid hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025362 Hypoplasia of the medullary pyramids Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. HP:0000086 Ectopic kidney biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000086 SNOMEDCT_US:16507009|UMLS:C0238207 Renal ectopia|Ectopic kidneys|Displaced kidney|Abnormal kidney location A developmental defect in which a kidney is located in an abnormal anatomic position. HP:0025363 Glomerular endocapillary hypercellularity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025363 Endocapillary hypercellularity Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina. HP:0000085 Horseshoe kidney biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000085 MSH:D000069337|UMLS:C0221353|Fyler:4507|SNOMEDCT_US:41729002 Horseshoe kidneys|Fused kidneys|Horseshoe kidney A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline. HP:0025364 Glomerular extracapillary hypercellularity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025364 Extracapillary glomerular hypercellularity|Extracapillary hypercellularity Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells. HP:0012044 Seesaw nystagmus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012044 MSH:D009759|SNOMEDCT_US:95782001|UMLS:C0344243 Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements. HP:0012045 Retinal flecks biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012045 SNOMEDCT_US:247138002|UMLS:C0423414 Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions. HP:0012046 Areflexia of upper limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012046 UMLS:C2674177 Inability to elicit tendon reflexes in the upper limbs. HP:0012047 Hemeralopia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012047 MSH:D014786|SNOMEDCT_US:399323001|UMLS:C0018975 Day blindness A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness. HP:0012048 Oromandibular dystonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012048 UMLS:C2242577 Cranial dystonia A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech. HP:0012049 Laryngeal dystonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012049 UMLS:C1963946|SNOMEDCT_US:3331000119108 Spasmodic dysphonia A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech. HP:0012040 Corneal stromal edema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012040 UMLS:C0474444|SNOMEDCT_US:373430008 Corneal stromal oedema Abnormal accumulation of fluid and swelling of the stroma of cornea. HP:0012041 Decreased fertility in males biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012041 UMLS:C0151640 Decreased fertility in males HP:0012042 Aspirin-induced asthma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012042 UMLS:C1319853|SNOMEDCT_US:407674008|MSH:D055963 Aspirin-induced asthma A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction. HP:0012043 Pendular nystagmus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012043 SNOMEDCT_US:35743001|UMLS:C0271388|MSH:D009759|UMLS:C4020734 Nystagmus, continuous pendular|Nystagmus, pendular Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction. HP:0001387 Joint stiffness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001387 SNOMEDCT_US:84445001|UMLS:C0162298 Joint stiffness|Stiff joints|Stiff joint Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. HP:0025354 Abnormal cellular phenotype biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025354 An anomaly of cellular morphology or physiology. HP:0000055 Abnormality of female external genitalia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000055 UMLS:C4021822 Abnormal female external genitalia An abnormality of the female external genitalia. HP:0025355 Retinal arterial macroaneurysms biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025355 Acquired focal dilatations of branches of the retinal artery, usually second-order retinal arterioles, that range in size from 100 to 200 micrometers in diameter. Macroaneurysms are generally located at the termporal retina and may be hemorrhagic or exudative. HP:0001388 Joint laxity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001388 SNOMEDCT_US:27911000|UMLS:C0086437|SNOMEDCT_US:298203008|MSH:D007593|UMLS:C0158359 Loose-jointedness|Hyperlaxity|Joint instability|Ligamentous laxity|Joint ligamentous laxity|Lax joints|Loosejointedness Lack of stability of a joint. HP:0000054 Micropenis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000054 UMLS:C4551492|SNOMEDCT_US:34911001 Short penis|Small penis Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. HP:0000057 obsolete Clitoromegaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000057 HP:0025356 Psychomotor retardation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025356 Psychomotor slowing|Motormental retardation|Psychomotor impairment HP:0001385 Hip dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001385 SNOMEDCT_US:48334007|UMLS:C0019555|MSH:D006618|SNOMEDCT_US:52781008 Abnormal formation of the hip|Congenital hip dysplasia The presence of developmental dysplasia of the hip. HP:0000056 Abnormality of the clitoris biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000056 UMLS:C4025893 Abnormality of the clit An abnormality of the clitoris. HP:0001386 Joint swelling biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001386 UMLS:C0152031|SNOMEDCT_US:271771009 Joint swelling HP:0025357 Erratic myoclonus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025357 Fragmentary myoclonus A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous. HP:0025358 Uveal ectropion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025358 Ectropion uveae Presence of iris pigment epithelium on the anterior surface of the iris. HP:0000059 Hypoplastic labia majora biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000059 UMLS:C0566899|SNOMEDCT_US:289469003 Underdeveloped vaginal lips|Hypoplasia of labia majora|Small labia majora Undergrowth of the outer labia. HP:0000058 Abnormal labia morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000058 UMLS:C4025892 Abnormality of the labia An anomaly of the labia, the externally visible portions of the vulva. HP:0025359 Polygonal renal calices biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025359 Polygonal-shaped calices|Polygonal calices An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance). HP:0001380 obsolete Ligamentous laxity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001380 HP:0025350 Giant conjunctival papillae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025350 Conjunctival papillae with a diameter greater than 1 millimeter. They characteristically have flattened tops which sometimes demonstrate staining with fluorescein. HP:0000051 Perineal hypospadias biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000051 UMLS:C0452148|SNOMEDCT_US:204890004 Hypospadias with location of the urethral meatus in the perineal region. HP:0001384 Abnormality of the hip joint biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001384 UMLS:C4020870 Abnormality of the hip joints|Abnormality of the hip joint An abnormality of the hip joint. HP:0000050 Hypoplastic male external genitalia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000050 UMLS:C1852534 Underdeveloped male genitalia|Hypoplastic male genitalia|Small male external genitalia Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra). HP:0025351 Recurrent interdigital mycosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025351 Recurrent interdigital tinea A history of repeated fungal infections located between the fingers or toes, usually manifested by scaling, maceration, and itching. The toes are more commonly affected than the fingers. HP:0025352 Autosomal dominant germline de novo mutation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025352 Being related to a mutation that gamete that participates in fertilization. All cells of the emerging organism will be affected and the variant canl be passed on to the next generation. HP:0000053 Macroorchidism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000053 UMLS:C1263023 Large testicles|Large testis The presence of abnormally large testes. HP:0000052 Urethral atresia, male biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000052 UMLS:C4025894 Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males. HP:0001382 Joint hypermobility biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001382 UMLS:C1844820|SNOMEDCT_US:298181000 Flexible joints|Double-Jointed|Joint hyperextensibility|Increased joint mobility|Extensible joints|Increased mobility of joints|Hyperextensible joints The ability of a joint to move beyond its normal range of motion. HP:0025353 Anti-multiple nuclear dots antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025353 Anti-MND antibodies|Anti-sp100 antibody positivity A type of antinuclear antibody (ANA) positivity revealed by indirect immunofluorescence (IFL). The multiple nuclear dots (MND) pattern is immunomorphologically characterized by the staining of 3-20 dots of variable size distributed all over the cell nucleus, but sparing the nucleoli, and, in contrast to the anticentromere pattern, MND reactivity does not stain the chromosomes in mitotic cells. HP:0012033 Sacral lipoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012033 UMLS:C4021835 Presence of a lipoma in the region of the sacrum. HP:0012034 Liposarcoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012034 SNOMEDCT_US:49430005|SNOMEDCT_US:254829001|UMLS:C0023827|MPATH:418|MSH:D008080 Malignant neoplasms which probably originate in primitive mesenchymal stem cell populations differentiating down a lipomatous pathway. HP:0012035 Steatocystoma multiplex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012035 MSH:D062685|UMLS:C0259771|SNOMEDCT_US:109433009 Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities). HP:0012036 Sternocleidomastoid amyotrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012036 UMLS:C4023067 Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head. HP:0012037 Pectoralis amyotrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012037 UMLS:C4023066 Wasting of pec muscles Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor. HP:0012038 Corneal guttata biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012038 SNOMEDCT_US:373424008|UMLS:C0271288 Corneal endothelial guttata Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible. HP:0012039 Descemet Membrane Folds biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012039 SNOMEDCT_US:193821003|UMLS:C0155116 Presence of folds in the Descemet membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descemet membrane folds are generally a manifestation of inflammation or edema of the cornea. HP:0012030 Increased urinary cortisol level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012030 UMLS:C4023068 High urine cortisol level Abnormally increased concentration of cortisol in the urine. HP:0012031 Lipomatous tumor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012031 SNOMEDCT_US:115227001|MSH:D018205|MPATH:415|UMLS:C0206631|SNOMEDCT_US:254831005|SNOMEDCT_US:254827004 Lipomatous tumour HP:0012032 Lipoma biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0012032 UMLS:C0023798|MSH:D008067|SNOMEDCT_US:93163002|MEDDRA:10024612|MPATH:417|SNOMEDCT_US:46720004 Noncancerous fatty lump|Fatty lump Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous. HP:0000066 Labial hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000066 UMLS:C1850325 Hypoplastic labia|Underdeveloped labia HP:0025343 Lupus anticoagulant biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025343 Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces. HP:0025344 Interlobular bile duct destruction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025344 Damage to and obliteration of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts). HP:0000065 Labial hypertrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000065 SNOMEDCT_US:16924008|UMLS:C0404531 Enlargement of the vaginal lips|Enlarged vaginal lips|Enlargement of the labia HP:0001399 Hepatic failure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001399 MSH:D017093|SNOMEDCT_US:59927004|UMLS:C0085605 Liver failure HP:0001396 Cholestasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001396 MSH:D002779|SNOMEDCT_US:197446008|SNOMEDCT_US:30144000|SNOMEDCT_US:33688009|UMLS:C0008370 Slowed or blocked flow of bile from liver Impairment of bile flow due to obstruction in bile ducts. HP:0025345 Abnormality of circulating beta-2-microglobulin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025345 Abnormality of circulating B2M level|Abnormality of circulating beta2 microglobulin level|Abnormality of circulating beta2m level|Abnormality of circulating beta2-m level A deviation from the normal concentration of beta-2-microglobulin in the blood. HP:0000068 Urethral atresia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000068 UMLS:C1610065 Urethral opening absent|Absent urethral opening Congenital anomaly characterized by closure or failure to develop an opening in the urethra. HP:0001397 Hepatic steatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001397 SNOMEDCT_US:197321007|MSH:D005234|UMLS:C2711227|SNOMEDCT_US:442191002 Steatosis|Liver steatosis|Fatty liver|Fatty infiltration of liver Steatosis is a term used to denote lipid accumulation within hepatocytes. HP:0025346 Increased circulating beta-2-microglobulin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025346 Elevated circulating beta-2-microglobulin level Elevated concentration of beta-2-microglobulin in the blood. HP:0000067 Urethral atresia, female biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000067 UMLS:C4025890 Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females. HP:0025347 Decreased circulating beta-2-microglobulin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025347 Reduced circulating beta-2-microglobulin level Reduced concentration of beta-2-microglobulin in the blood. HP:0000069 Abnormality of the ureter biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000069 UMLS:C1840382 Ureter issue|Ureteral anomalies|Abnormality of the ureters An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. HP:0025348 Abnormality of the corneal limbus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025348 An anomaly of the margin of the cornea overlapped by the sclera. HP:0025349 Limbal edema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025349 Limbal oedema Swelling of the margin of the cornea overlapped by the sclera. HP:0000060 Clitoral hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000060 UMLS:C1844527 Underdeveloped clit|Hypoplastic clitoris|Small clitoris Developmental hypoplasia of the clitoris. HP:0000062 Ambiguous genitalia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000062 UMLS:C0266362|SNOMEDCT_US:21321009|MSH:D012734 Ambiguous external genitalia at birth|Ambiguous external genitalia|Intersex genitalia A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4. HP:0001394 Cirrhosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001394 UMLS:C0023890|SNOMEDCT_US:19943007|MSH:D008103 Hepatic cirrhosis|Scar tissue replaces healthy tissue in the liver|Liver cirrhosis A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. HP:0001395 Hepatic fibrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001395 UMLS:C0239946|SNOMEDCT_US:62484002|MSH:D008103 Liver fibrosis The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process. HP:0000061 Ambiguous genitalia, female biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000061 UMLS:C1859980|UMLS:C4025891 Atypical appearance of female genitals|Ambiguous genitalia due to virilization Ambiguous genitalia in an individual with XX genetic gender. HP:0025340 Deep episcleral hyperemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025340 Deep episcleral hyperaemia Prominence of blood vessels of the deep episcleral tissues. HP:0025341 Corneal keratic precipitates biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025341 An inflammatory cellular deposit deposited on the corneal endothelium and visible as spots on the cornea. HP:0000064 Hypoplastic labia minora biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000064 UMLS:C1849295 Underdeveloped inner lips HP:0001392 Abnormality of the liver biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001392 SNOMEDCT_US:235856003|UMLS:C4021780|MSH:D008107|UMLS:C0023895 Liver abnormality|Abnormality of the liver|Abnormal liver|Liver disease An abnormality of the liver. HP:0000063 Fused labia minora biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000063 UMLS:C1837532 Fused inner lips Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction. HP:0025342 Central retinal artery occlusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025342 Blockage of the main artery in the retina. The typical presentation is one of profound monocular visual loss. HP:0012099 Abnormality of circulating catecholamine level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012099 UMLS:C4021102 Catecholamine levels abnormal An abnormal catecholamine concentration in the blood. HP:0012091 Abnormality of pancreas physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012091 UMLS:C4023048 An anomaly of the function of the pancreas. HP:0012092 Abnormality of exocrine pancreas physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012092 UMLS:C4021103 Abnormal exocrine pancreatic function A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes. HP:0012093 Abnormality of endocrine pancreas physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012093 UMLS:C4023047 A function abnormality of the endocrine pancreas. HP:0012094 Abnormal pancreas size biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012094 UMLS:C4023046 Abnormal pancreas size A deviation from the normal size of the pancreas. HP:0012095 Multiple joint dislocation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012095 SNOMEDCT_US:34277002|UMLS:C0332792|SNOMEDCT_US:287096003 Multiple joint dislocations Dislocation of many joints. HP:0012096 Intracranial epidermoid cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012096 UMLS:C4023045 A congenital inclusion cysts that arises from ectodermal cells that normally form skin cells being left behind in the nervous system during development. HP:0012097 Intracranial dermoid cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012097 UMLS:C4023044 A congenital inclusion cysts that arises from the inclusion of ectodermally committed cells at the time of neural tube closure (3rd-5th week of embryogenesis). The capsule of dermoid cysts consists of simple epithelium supported by collagen. In thicker parts, the lining is supplemented with dermis containing hair follicles, sebaceous glands, and apocrine glands. HP:0012098 Edema of the dorsum of feet biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012098 UMLS:C2919341|SNOMEDCT_US:445124008 Edema of dorsum of feet|Oedema of the dorsum of feet An abnormal accumulation of fluid beneath the skin on the back of the feet. HP:0012088 Abnormal urinary odor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012088 SNOMEDCT_US:8769003|UMLS:C0278045 Abnormal urinary odor|Abnormal urinary odour|Abnormal urine smell A deviation from the normal odor of the urine. HP:0012089 Arteritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012089 SNOMEDCT_US:52089001|UMLS:C0003860|MSH:D001167 Inflammation of artery Arterial inflammation. HP:0012080 Cerebellar granular layer atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012080 UMLS:C4023054 Atrophy of the cerebellum affecting primarily the granular cell layer. HP:0012081 Enlarged cerebellum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012081 UMLS:C3278024 An abnormally increased size of the cerebellum compared to other brain structures. HP:0012082 Cerebellar Purkinje layer atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012082 UMLS:C4023053 Atrophy of the cerebellum affecting primarily the Purkinje cell layer. HP:0012083 Ubiquitin-positive cerebral inclusion bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012083 UMLS:C4023052 Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain. HP:0012084 Abnormality of skeletal muscle fiber size biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012084 UMLS:C4023051 Abnormality of skeletal muscle fibre size Any abnormality of the size of the skeletal muscle cell. HP:0012085 Pyuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012085 MSH:D011776|SNOMEDCT_US:275765006|UMLS:C0034359|SNOMEDCT_US:4800001 High urine neutrophil count|Leukocyturia The presence of 10 or more white cells per cubic millimeter in a urine specimen, 3 or more white cells per high-power field of unspun urine, a positive result on Gram staining of an unspun urine specimen, or a urinary dipstick test that is positive for leukocyte esterase. HP:0012086 Abnormal urinary color biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012086 UMLS:C0522153|SNOMEDCT_US:102867009|SNOMEDCT_US:167239007 Abnormal urine color|Abnormal urinary color|Abnormal urinary colour An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color. HP:0012087 Abnormal mitochondrial shape biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012087 UMLS:C4023050 An anomaly in the surface contour of mitochondria. HP:0000099 Glomerulonephritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000099 UMLS:C0017658|MSH:D005921|SNOMEDCT_US:36171008 Glomerular nephritis Inflammation of the renal glomeruli. HP:0025398 Nodular-perilymphatic pattern on pulmonary HRCT biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025398 A nodular pattern on pulmonary high-resolution computed tomography that has a perilymphatic distribution. HP:0000098 Tall stature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000098 UMLS:C0241240|SNOMEDCT_US:248328003 Accelerated linear growth|Increased linear growth|Tall stature|Increased body height A height above that which is expected according to age and gender norms. HP:0025399 Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025399 A nodular pattern on pulmonary high-resolution computed tomography that displays a tree-in-bud pattern, representing centrilobular branching structures that resemble a budding tree. HP:0012090 Abnormal pancreas morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012090 UMLS:C4023049 Abnormally shaped pancreas|Abnormality of pancreas morphology HP:0000091 Abnormal renal tubule morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000091 UMLS:C4021826 Abnormality of the renal tubule|Morphologic abnormality of the renal tubules An abnormality of the renal tubules. HP:0025390 Reticular pattern on pulmonary HRCT biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025390 On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh. HP:0000090 Nephronophthisis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000090 SNOMEDCT_US:204958008|UMLS:C0687120 juvenile nephronophthisis Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. HP:0025391 Crazy paving pattern on pulmonary HRCT biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025391 The so-called crazy paving pattern is characterised on HRCT by the presence of thickened interlobular septae and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones. HP:0000093 Proteinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000093 SNOMEDCT_US:29738008|UMLS:C0033687|MSH:D011507 High urine protein levels|Protein in urine Increased levels of protein in the urine. HP:0025392 Nodular pattern on pulmonary HRCT biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025392 A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter. HP:0000092 Renal tubular atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000092 UMLS:C1858395 Tubular atrophy|Renal tubular cell 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. HP:0025393 Reticulonodular pattern on pulmonary HRCT biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025393 Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography. HP:0000095 Abnormal renal glomerulus morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000095 UMLS:C4025889 Abnormality of renal glomerulus morphology|Morphologic abnormality of the renal glomerulus A structural anomaly of the glomerulus. HP:0025394 Cystic pattern on pulmonary HRCT biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025394 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. HP:0025395 Combined cystic and ground-glass pattern on pulmonary HRCT biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025395 Co-occurrence of the cystic pattern and the ground-glass pattern on pulmonary high-resolution computed tomography, HP:0000097 Focal segmental glomerulosclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000097 SNOMEDCT_US:25821008|UMLS:C0017668|MSH:D005923|SNOMEDCT_US:236403004 focal glomerulosclerosis|Focal and segmental glomerular sclerosis|Focal and segmental glomerulosclerosis Segmental accumulation of scar tissue in individual (but not all) glomeruli. HP:0025396 Decreased attenuation pattern on pulmonary HRCT biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025396 Black lung pattern on pulmonary HRCT Areas of low density corresponding to parenchymal destruction and reduced perfusion, and attenuation of the pulmonary vasculature, as visualized on pulmonary high-resolution computed tomography. HP:0000096 Glomerular sclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000096 UMLS:C0178664|SNOMEDCT_US:197661001|SNOMEDCT_US:82646005 Renal glomerular fibrosis|Glomerulosclerosis Accumulation of scar tissue within the glomerulus. HP:0025397 Mosaic attenuation pattern on pulmonary HRCT biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025397 A patchwork of intermingled areas of increased and decreased attenuation visualized on pulmonary high-resolution computed tomography. HP:0012077 Histrionic personality disorder biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012077 MSH:D006677|UMLS:C0019681|SNOMEDCT_US:55341008|ICD-10:F60.4 A personality disorder characterized by shallow and labile affectivity, self-dramatization, theatricality, exaggerated expression of emotions, suggestibility, egocentricity, self-indulgence, lack of consideration for others, easily hurt feelings, and continuous seeking for appreciation, excitement and attention. HP:0012078 Motor conduction block biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012078 UMLS:C4023056 Blockade of impulses at a focal site along the course of a motor axon. HP:0012079 Abnormality of central motor conduction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012079 UMLS:C4023055 Any anomaly of the conduction of motor nerve impulses in the central nervous system. HP:0012070 Chondroitin sulfate excretion in urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012070 UMLS:C4023059 Chondroitin sulphate excretion in urine An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine. HP:0012071 Abnormal circulating acetylcarnitine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012071 UMLS:C4023058|UMLS:C4020733 Abnormal circulating esterified carnitine concentration|Abnormal acetylcarnitine profile 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. HP:0012072 Aciduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012072 SNOMEDCT_US:21806007|UMLS:C0278026 Acidic urine Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration. HP:0012073 Abnormal urinary acylglycine profile biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012073 UMLS:C4023057 An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution. HP:0012074 Tonic pupil biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0012074 SNOMEDCT_US:24225004|UMLS:C0040416|MSH:D015845 Adie's tonic pupil|Adie pupil An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation. HP:0012075 Personality disorder biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012075 ICD-10:F60|UMLS:C0031212|MSH:D010554|SNOMEDCT_US:33449004 An abnormality of mental functioning affecting the personality and behavioural tendencies of an individual and characterized by a rigid and unhealthy pattern of thinking and behavior. The definition of a personal disorder implies that the abnormality is not the result of damage or insult to the brain or from another psychiatric disorder. HP:0012076 Borderline personality disorder biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012076 SNOMEDCT_US:20010003|UMLS:C0006012|MSH:D001883|ICD-10:F60.3 BPD A personality disorder characterized by impulsive behavior and unpredictable and capricious mood. Affected individuals show a liability to outbursts of emotion and an incapacity to control the behavioural explosions. HP:0025387 Pill-rolling tremor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025387 Pill rolling A type of resting tremor characterized by simultaneous rubbing movements of thumb and index fingers against each other. HP:0025388 Thyroid nodule biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025388 A nodular lesion that develops in the thyroid gland. The term "thyroid nodule" refers to any abnormal growth that forms a lump in the thyroid gland. HP:0025389 Pulmonary interstitial high-resolution computed tomography abnormality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025389 Pulmonary interstitiatial HRCT abnormality High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities. HP:0025380 Increased serum androstenedione biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025380 Increased level of circulating 4-androstenedione. HP:0025381 Anti-pituitary antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025381 Circulating antipituitary antibodies (APA) are markers of autoimmune hypophysitis, which may cause deficient pituitary function. HP:0025382 Hypodipsia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025382 Reduced fluid intake (drinking) in a clinical situation where the plasma molarity or sodium concentration normally would induce greater fluid intake. HP:0025383 Dorsocervical fat pad biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025383 Buffalo hump An area of fat accumulation at the back of the neck in the form of a hump. HP:0025384 Diet-resistant subcutaneous adipose tissue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025384 Areas of subcutanous fat tissue that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery. HP:0025385 Diet-resistant subcutaneous adipose tissue below waist biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025385 Areas of subcutanous fat tissue below the waist that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery. HP:0025386 Bitemporal hollowing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025386 Depression of profile in both temporal regions. HP:0001327 Photosensitive myoclonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001327 UMLS:C4025791 Photomyoclonic seizures|Photically induced myoclonic seizure|Photomyoclonic seizure Generalised myoclonic seizure provoked by flashing or flickering light. HP:0002659 Increased susceptibility to fractures biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002659 UMLS:C1390474 Increased tendency to fractures|Increased bone fragility|Increased susceptibility to fractures|Frequent broken bones|Abnormal susceptibility to fractures|Bone fragility An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture. HP:0003989 Notched ulna biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003989 UMLS:C4025462 HP:0001328 Specific learning disability biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001328 UMLS:C4025790 Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. HP:0002652 Skeletal dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002652 MSH:D010009|SNOMEDCT_US:105985007|SNOMEDCT_US:240190009|UMLS:C0029422|UMLS:C4280567 Abnormal skeletal development A general term describing features characterized by abnormal development of bones and connective tissues. HP:0003984 Posteriorly dislocated ulna biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003984 UMLS:C4025465 HP:0001321 Cerebellar hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001321 MSH:C562568|UMLS:C0266470|SNOMEDCT_US:16026008 Hypoplastic cerebellum|Small cerebellum|Hypoplasia of cerebellum|Underdeveloped cerebellum|Congenital cerebellar hypoplasia Underdevelopment of the cerebellum. HP:0002653 Bone pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002653 UMLS:C0151825|SNOMEDCT_US:12584003 Bone pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. HP:0001322 obsolete Brain very small biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001322 HP:0002650 Scoliosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002650 UMLS:C0037932|UMLS:C0700208|Fyler:4160|SNOMEDCT_US:111266001|MSH:D013121|SNOMEDCT_US:64217002 The presence of an abnormal lateral curvature of the spine. HP:0003982 Aplasia of the ulna biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003982 UMLS:C2678397 Absent ulna|Absent ossification/absent ulna|Absent ulnae Missing ulna bone associated with congenital failure of development. HP:0001320 Cerebellar vermis hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001320 UMLS:C1840379 Hypoplastic cerebellar vermis|Cerebellar vermal hypoplasia|Hypoplasia of the cerebellar vermis Underdevelopment of the vermis of cerebellum. HP:0003981 Broad radius biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003981 UMLS:C4021698 Wide radius Increased width of the radius. HP:0002651 Spondyloepimetaphyseal dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002651 UMLS:C0432211|SNOMEDCT_US:254062008 HP:0001325 Hypoglycemic coma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001325 SNOMEDCT_US:267384006|UMLS:C0020617 Coma caused by low blood sugar|Loss of consciousness due to hypoglycemia|Coma, hypoglycemic|Hypoglycaemic coma HP:0003988 Long ulna biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003988 UMLS:C1848108 Disproportionately long ulnae Increased length of the ulna. HP:0002656 Epiphyseal dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002656 UMLS:C4280566|UMLS:C0392476|SNOMEDCT_US:254080004 Abnormal development of the ends of long bones in arms and legs|Abnormal development of end part of bone HP:0002657 Spondylometaphyseal dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002657 SNOMEDCT_US:702350003|MSH:C537501|UMLS:C0700635 HP:0001326 EEG with irregular generalized spike and wave complexes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001326 UMLS:C4025792 EEG with irregular generalised spike and wave complexes EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency. HP:0003987 Fractured ulna biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003987 UMLS:C0041601|SNOMEDCT_US:54556006|MSH:D014458 HP:0002654 Multiple epiphyseal dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002654 SNOMEDCT_US:59708000|MSH:D010009|UMLS:C0026760 HP:0003986 Exostoses of the radius biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003986 UMLS:C4025463 HP:0002655 Spondyloepiphyseal dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002655 UMLS:C0038015|MSH:D010009 Spondyloepiphyseal dysplasia tarda A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses). HP:0001324 Muscle weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001324 UMLS:C0151786|MSH:D018908|SNOMEDCT_US:26544005 Muscular weakness|Muscle weakness Reduced strength of muscles. HP:0003985 Exostoses of the ulna biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003985 UMLS:C4025464 HP:0003980 Pseudarthrosis of the radius biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003980 UMLS:C4025466 HP:0000008 Abnormal morphology of female internal genitalia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000008 UMLS:C4025900 Abnormality of female internal genitalia An abnormality of the female internal genitalia. HP:0000007 Autosomal recessive inheritance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000007 SNOMEDCT_US:258211005|UMLS:C4020899|UMLS:C0441748 Autosomal recessive predisposition|Autosomal recessive|Autosomal recessive form A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). HP:0001338 Partial agenesis of the corpus callosum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001338 SNOMEDCT_US:253140003|MSH:C536111|UMLS:C0431368|UMLS:C1857278 Partial or complete agenesis of the corpus callosum|Partial to complete agenesis of corpus callosum|Partial or complete agenesis of corpus callosum|Corpus callosum agenesis, partial|Partial corpus callosum agenesis|Partial agenesis of corpus callosum|Partial-total agenesis of corpus callosum A partial failure of the development of the corpus callosum. HP:0002669 Osteosarcoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002669 UMLS:C0029463|SNOMEDCT_US:21708004|NCIT:C9145|SNOMEDCT_US:307576001|MSH:D012516 Osteogenic sarcoma|Bone cell cancer 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. HP:0000009 Functional abnormality of the bladder biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000009 UMLS:C3806583 Poor bladder function Dysfunction of the urinary bladder. HP:0001339 Lissencephaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001339 UMLS:C0266463|UMLS:C1879312|MSH:D054082|SNOMEDCT_US:204036008 Fewer or absent grooves in brain 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. HP:0002663 Delayed epiphyseal ossification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002663 UMLS:C1865200|UMLS:C4280565 Epiphyseal ossification delay|Delayed epiphyseal maturation|Delayed epiphyseal ossification|Delayed maturation of end part of long bone|Delayed opacification of the epiphyses HP:0001332 Dystonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001332 UMLS:C0013421|UMLS:C4020871|MSH:D004421 Dystonic disease|Dystonic movements An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. HP:0003995 Abnormality of the radial head biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003995 UMLS:C4021696 Deformity of radial heads HP:0002664 Neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002664 SNOMEDCT_US:363346000|UMLS:C0027651|MSH:D009369|NCIT:C3262|SNOMEDCT_US:108369006|UMLS:C0006826 Neoplasia|Cancer|Abnormal tissue mass|Oncology|Oncological abnormality|Tumour|Tumor An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour). HP:0003994 Dislocated wrist biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003994 SNOMEDCT_US:125618007|MEDDRA:10013184|UMLS:C0159941 Dislocated wrist|Dislocations of the wrists An injury of the wrist with displacement of any of the eight carpal bones. HP:0003993 Broad ulna biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003993 UMLS:C4025460|UMLS:C4020692 Wide ulna Increased width of the ulna. HP:0002661 Painless fractures due to injury biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002661 UMLS:C1837602 Painless fractures due to injury An increased tendency to fractures following trauma, with fractures occurring without pain. HP:0000002 Abnormality of body height biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000002 UMLS:C4025901 Abnormality of body height Deviation from the norm of height with respect to that which is expected according to age and gender norms. HP:0003992 Slender ulna biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003992 UMLS:C1968814 Reduction in diameter of the ulna. HP:0000001 All biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000001 UMLS:C0444868 HP:0001331 Absent septum pellucidum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001331 UMLS:C0431371|SNOMEDCT_US:253143001|MSH:C535562 Absence of septum pellucidum|Agenesis of the septum pellucidum|Missing septum pellucidum|Absence of the septum pellucidum Absence of the septum pellucidum. HP:0001336 Myoclonus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001336 SNOMEDCT_US:127324008|UMLS:C0027066|SNOMEDCT_US:17450006|UMLS:C1854302|MSH:D009207 Myoclonic jerks|Involuntary jerking movements|Jerking Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. HP:0003999 Abnormality of radial epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003999 UMLS:C4021694 Abnormality of radial epiphyseal plates HP:0002667 Nephroblastoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002667 NCIT:C40407|SNOMEDCT_US:25081006|UMLS:C0027708|SNOMEDCT_US:302849000|MSH:D009396 Wilms tumor|Wilm's tumor The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children. HP:0002668 Paraganglioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002668 SNOMEDCT_US:127027008|UMLS:C0030421|MSH:D010235|SNOMEDCT_US:72787006|SNOMEDCT_US:302833002|NCIT:C3308|SNOMEDCT_US:253029009|SNOMEDCT_US:803009 Paragangliomas|Carotid body tumors A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation. HP:0000003 Multicystic kidney dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000003 MSH:D021782|SNOMEDCT_US:204962002|SNOMEDCT_US:82525005|UMLS:C3714581 Multicystic renal dysplasia|Multicystic dysplastic kidney|Multicystic kidneys Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional. HP:0001337 Tremor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001337 MSH:D014202|UMLS:C0040822|SNOMEDCT_US:26079004 Tremors|Tremor An unintentional, oscillating to-and-fro muscle movement about a joint axis. HP:0003998 Constricted radial neck biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003998 UMLS:C4025458 HP:0002665 Lymphoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002665 NCIT:C7065|UMLS:C0024299|SNOMEDCT_US:21964009|MSH:D008223|SNOMEDCT_US:115244002|SNOMEDCT_US:118600007|SNOMEDCT_US:188676008 Cancer of lymphatic system A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells. HP:0000006 Autosomal dominant inheritance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000006 SNOMEDCT_US:263681008|UMLS:C0443147 Autosomal dominant form|Autosomal dominant|Autosomal dominant type A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. HP:0003997 Hypoplastic radial head biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003997 UMLS:C4021695 Small radial head HP:0001334 Communicating hydrocephalus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001334 SNOMEDCT_US:271569006|UMLS:C0009451|MSH:D006849 A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space. HP:0001335 Bimanual synkinesia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001335 SNOMEDCT_US:229247004|UMLS:C0454455 Mirror hand movements|Hand mirror movements|Mirror movements Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand. HP:0002666 Pheochromocytoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002666 SNOMEDCT_US:399343007|SNOMEDCT_US:302835009|NCIT:C3326|SNOMEDCT_US:85583005|MSH:D010673|UMLS:C0031511 Chromaffin tumors Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines. HP:0003996 Flattened radial head biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003996 UMLS:C4025459 HP:0000005 Mode of inheritance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000005 UMLS:C1708511 Inheritance The pattern in which a particular genetic trait or disorder is passed from one generation to the next. HP:0003991 Osteosclerosis of the ulna biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003991 UMLS:C4021697 Sclerotic ulna Osteosclerosis (increased density related to increased bone mass) of the ulna. HP:0003990 Pointed ulna biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003990 UMLS:C4025461 HP:0002638 Superficial thrombophlebitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002638 SNOMEDCT_US:2477008|UMLS:C1510431 Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein). HP:0002639 Budd-Chiari syndrome biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002639 MSH:D006502|UMLS:C0856761|SNOMEDCT_US:82385007 Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) with the right atrium, 1 and occurs in 1/100,000 of the general population worldwide. The most common presentation is with ascites, but can range from fulminant hepatic failure (FHF) to asymptomatic forms. Obstruction of hepatic venous outflow is mainly caused by primary intravascular thrombosis, which can occur suddenly or be repeated over time, accompanied by some revascularization, accounting for the variable parenchymal hepatic damage and histologic presentation. Budd-Chiari syndrome is thus a disease, but since it occurs as a manifestation of several other diseases, this term is kept for the present for convenience. HP:0001308 Tongue fasciculations biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001308 SNOMEDCT_US:249878001|UMLS:C0239548|MSH:D005207 Lingual twitching|Twitching of the tongue|Tongue fasciculations/fibrillations|Lingual fasciculations|Tongue twitching|Tongue fasciculation|Lingual fibrillations Fasciculations or fibrillation affecting the tongue muscle. HP:0003969 Slender forearm bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003969 UMLS:C4025471 HP:0001305 Dandy-Walker malformation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001305 UMLS:C0010964|MSH:D003616|SNOMEDCT_US:14447001 Dandy-walker anomaly|Dandy-Walker cyst A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal. HP:0002636 Dilatation of an abdominal artery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002636 UMLS:C4025694 Aneurysm of an abdominal artery Abnormal outpouching or sac-like dilatation in an artery that originates from he abdominal aorta. HP:0002637 Cerebral ischemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002637 MSH:D002545|SNOMEDCT_US:389100007|UMLS:C0917798|UMLS:C0007786|SNOMEDCT_US:287731003 Cerebrovascular ischemia|Brain ischemia|Disruption of blood oxygen supply to brain HP:0003967 Sclerotic forearm bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003967 UMLS:C4025472 Increased bone density of forearm bones HP:0002630 Fat malabsorption biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002630 SNOMEDCT_US:197494007|UMLS:C0554103 Abnormality of the absorption of fat from the gastrointestinal tract. HP:0001300 Parkinsonism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001300 MSH:D020734|SNOMEDCT_US:32798002|UMLS:C0242422 Parkinsonian disease Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait. HP:0003961 Fractured forearm bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003961 UMLS:C4025477 Fracture of the forearm|Broken forearm|Fractured forearm bones Bone fracture in the radius, ulna, or wrist. HP:0002631 obsolete Dilatation of ascending aorta biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002631 HP:0003960 Exostoses of the forearm bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003960 UMLS:C4025478 HP:0002634 Arteriosclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002634 MSH:D001161|SNOMEDCT_US:72092001|SNOMEDCT_US:28960008|SNOMEDCT_US:107671003|UMLS:C4280568|UMLS:C0003850 Hardened artery wall Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity. HP:0003966 Sclerotic foci in forearm bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003966 UMLS:C4025473 HP:0002635 Type IV atherosclerotic lesion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002635 UMLS:C0004153|SNOMEDCT_US:38716007|MSH:D050197 Atheromatosis In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion. HP:0001304 Torsion dystonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001304 SNOMEDCT_US:431034009|MSH:D004422|SNOMEDCT_US:22451001|UMLS:C0013423 Dystonia musculorum deformans Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body. HP:0003965 Pseudarthrosis of the forearm bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003965 UMLS:C4025474 HP:0002632 Low-to-normal blood pressure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002632 UMLS:C1866500 Low-to-normal blood pressure|Low-to-normal BP HP:0001301 Chronic sensorineural polyneuropathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001301 UMLS:C4025794 HP:0003964 Osteoporotic forearm bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003964 UMLS:C4025475 HP:0001302 Pachygyria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001302 MSH:D054082|UMLS:C0266483|SNOMEDCT_US:23024003 Fewer and broader ridges in brain|Cerebral pachygyria Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. HP:0002633 Vasculitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002633 MSH:D014657|UMLS:C0042384|SNOMEDCT_US:31996006 Angiitis|Inflammation of blood vessel Inflammation of blood vessel. HP:0003963 Lytic defects of the forearm bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003963 UMLS:C4025476 HP:0001319 Neonatal hypotonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001319 SNOMEDCT_US:205294008|UMLS:C2267233|MSH:D009123 Hypotonia, in neonatal onset|Hypotonia, neonatal|Low muscle tone, in neonatal onset|Congenital hypotonia Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. HP:0003979 Lytic defects of the radius biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003979 UMLS:C4021841 HP:0002647 Aortic dissection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002647 UMLS:C0340643|SNOMEDCT_US:308546005 Tear in inner wall of large artery that carries blood away from heart Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta. HP:0001317 Abnormal cerebellum morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001317 UMLS:C1866129|UMLS:C0742038 Abnormality of the cerebellum|Cerebellar abnormalities|Cerebellar signs|Cerebellar anomaly|Cerebellar abnormality Any structural abnormality of the cerebellum. HP:0003978 Fractured radius biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003978 MSH:D011885|SNOMEDCT_US:12676007|UMLS:C0034628 HP:0002648 Abnormality of calvarial morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002648 UMLS:C4280260|UMLS:C4025692 Abnormal cranium morphology|Abnormality of cranial bone morphology|Abnormality of the shape of calvarium|Abnormally shaped skull|Abnormality of skull bone morphology|Abnormality of the shape of cranium|Abnormality of the shape of skull bones 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. HP:0001310 Dysmetria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001310 SNOMEDCT_US:32566006|UMLS:C0234162|MSH:D002524 Lack of coordination of movement|Abnormal finger chase test|Abnormal finger-nose-finger test A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements. HP:0003973 Wide radioulnar joints biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003973 UMLS:C4021699 Broad radioulnar joints HP:0002641 Peripheral thrombosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002641 UMLS:C1849749 Peripheral blood clot HP:0002642 Arteriovenous fistulas of celiac and mesenteric vessels biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002642 UMLS:C1857693 Arteriovenous fistulas of coeliac and mesenteric vessels HP:0001311 Abnormal nervous system electrophysiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001311 UMLS:C4021781 Neurophysiologic abnormality|Neurophysiologic abnormalities An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations. HP:0003971 Broad forearm bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003971 UMLS:C4021700 Broad forearm bones|Wide forearm bones Abnormally wide bone of the skeleton of forearm. HP:0003970 Undermodelled forearm bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003970 UMLS:C4025470 HP:0002640 Hypertension associated with pheochromocytoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002640 UMLS:C4025693 A type of hypertension associated with pheochromocytoma. HP:0002645 Wormian bones biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002645 UMLS:C0222716|SNOMEDCT_US:113194005 Islands of bone within cranial sutures|Extra bones within cranial sutures|Intra sutural bones|Intrasutural bones The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium. HP:0003977 Deformed radius biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003977 UMLS:C4025467 HP:0001315 Reduced tendon reflexes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001315 UMLS:C1866934 Decreased to absent deep tendon reflexes|Hypoactive to absent deep tendon reflexes|Absent or decreased deep tendon reflexes|Diminished deep tendon reflexes|Weak or absent deep tendon reflexes|Decreased/absent deep tendon reflexes|Diminished or absent deep tendon reflexes|Decreased deep tendon reflexes|Decreased tendon reflexes|Reduced/absent deep tendon reflexes|Diminished or absent tendon reflexes|Depressed tendon reflexes|Impaired tendon reflexes Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease. HP:0003976 Constricted radius biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003976 UMLS:C4025468 HP:0001312 Giant somatosensory evoked potentials biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001312 UMLS:C3806961 Giant SEPS An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials. HP:0002643 Neonatal respiratory distress biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002643 UMLS:C0852283 Respiratory distress, neonatal|Neonatal respiratory distress|Infantile respiratory distress|Newborn respiratory distress Respiratory difficulty as newborn. HP:0003975 obsolete Chevron-shaped/cone-shaped radius biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003975 HP:0002644 Abnormality of pelvic girdle bone morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002644 UMLS:C4020847 Abnormality of the pelvic girdle|Abnormal shape of pelvic girdle bone An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs. HP:0003974 Absent radius biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003974 UMLS:C1838608|UMLS:C1849314|UMLS:C1405984 Aplasia of the radius|Absent ossification/absence of radius|absence of radius and ulna|Missing outer large bone of forearm|Radial aplasia Missing radius bone associated with congenital failure of development. HP:0012022 Congenital portosystemic venous shunt biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012022 SNOMEDCT_US:253330006|MSH:C562830|UMLS:C0344688 A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver). HP:0012023 Galactosuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012023 UMLS:C0268157|SNOMEDCT_US:71690006 Increased urinary galactose level Elevated concentration of galactose in the urine. HP:0012024 Hypergalactosemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012024 UMLS:C0016952|UMLS:C4023071|SNOMEDCT_US:190745006|MSH:D005693|SNOMEDCT_US:190749000 Galactosemia Elevated concentration of galactose in the blood. HP:0012025 Abnormal circulating ornithine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012025 UMLS:C4023070 Deviation from the normal concentration of ornithine in the blood circulation. HP:0012026 Hyperornithinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012026 UMLS:C0599035|SNOMEDCT_US:33985005|MSH:D015799|SNOMEDCT_US:276426004 High blood ornithine levels Increased concentration of ornithine in the blood. HP:0012027 Laryngeal edema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012027 SNOMEDCT_US:51599000|MSH:D007819|UMLS:C0023052 Laryngeal oedema An abnormal accumulation of fluid and swelling in the tissues of the larynx. HP:0012028 Hepatocellular adenoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012028 SNOMEDCT_US:424263008|SNOMEDCT_US:78058005|UMLS:C0206669|MSH:D018248|MPATH:353 Hepatic adenoma|Liver cell adenoma A benign tumor of the liver of presumably epithelial origin. HP:0012029 Abnormal urine hormone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012029 UMLS:C4023069 Abnormality of urine hormone level An abnormal concentration of a hormone in the urine. HP:0012020 Right aortic arch biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012020 Fyler:2720|SNOMEDCT_US:244229003|SNOMEDCT_US:111321007|UMLS:C0035615 Right-sided aortic arch Aorta descends on right instead of on the left. HP:0012021 Persistent patent ductus venosus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012021 UMLS:C4023072 Persistence of blood flow through the ductus venosus for longer than the normal time after birth. HP:0002696 Abnormal parietal bone morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002696 UMLS:C4021834 Abnormality of the parietal bone of skull|Abnormality of the parietal bone Any abnormality of the parietal bone of the skull. HP:0025332 Abnormality of foot cortical bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025332 Abnormality of the cortex of foot bones An anomaly of the outer shell (cortex) of a foot bone. HP:0000033 Ambiguous genitalia, male biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000033 UMLS:C4021823 Ambiguous genitalia in males Ambiguous genitalia in an individual with XY genetic gender. HP:0025333 Cortical thinning of foot bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025333 A reduction in the thickness of the outer shell (cortex) of foot bones. HP:0002697 Parietal foramina biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002697 UMLS:C4280556|SNOMEDCT_US:11240000|SNOMEDCT_US:29307005|UMLS:C0222706 Holes in parietal bones|Openings in parietal bones|Persistent foramina of the parietal bones The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide. HP:0000032 Abnormality of male external genitalia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000032 UMLS:C4025897 An abnormality of male external genitalia. HP:0002694 Sclerosis of skull base biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002694 UMLS:C1851714|UMLS:C4072848|UMLS:C4072847 HyperOstosis of skull base|HyperMineralization of skull base|Sclerotic skull base|Marked sclerosis of skull base|Sclerosis of the skull base|HyperCalcification of skull base|Sclerosis of cranial base|Dense bone of skull base|HyperOssification of skull base Increased bone density of the skull base without significant changes in bony contour. HP:0001363 Craniosynostosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001363 SNOMEDCT_US:57219006|UMLS:C0010278|MSH:D003398|UMLS:C0235942|Fyler:4336 Craniostenosis|Deformity of the skull|Premature fontanel closure|Early fusion of cranial sutures|Craniosyostosis|Premature closure of cranial sutures|Premature suture closure|Cranial suture synostosis Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth. HP:0000035 Abnormal testis morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000035 UMLS:C0266423|SNOMEDCT_US:55631001 Anomaly of the testes|Abnormality of the testis An anomaly of the testicle (the male gonad). HP:0025334 Triggered by emotion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025334 Emotion triggered symptoms Applies to a sign or symptom that is provoked or brought about by a strong spontaneously arising mental state, reaction or feeling (emotion). HP:0002695 Symmetrical, oval parietal bone defects biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002695 UMLS:C1865045 Symmetrical, oval defects in the parietal bone HP:0000034 Hydrocele testis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000034 UMLS:C1720771|SNOMEDCT_US:26614003|SNOMEDCT_US:386152007|MSH:D006848|SNOMEDCT_US:55434001 Hydrocele|Testicular hydrocele Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis. HP:0025335 Delayed ability to stand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025335 A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months. HP:0001369 Arthritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001369 SNOMEDCT_US:3723001|MSH:D001168|UMLS:C0003864 Joint inflammation|Arthritis Inflammation of a joint. HP:0000037 Male pseudohermaphroditism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000037 UMLS:C0238395|SNOMEDCT_US:111332007|MSH:D058490 Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes. HP:0025336 Delayed ability to sit biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025336 A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age. HP:0000036 Abnormal penis morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000036 UMLS:C4025896 Abnormality of the penis Abnormality of the male external sex organ. HP:0025337 Red eye biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025337 Red eye|Red eyes A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera. HP:0001367 Abnormal joint morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001367 UMLS:C0240083|UMLS:C0022408|MSH:D007592|SNOMEDCT_US:399269003 Anomaly of the joints|Abnormal shape of joints|Abnormality of the joints|Joint disease An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. HP:0000039 Epispadias biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000039 UMLS:C0563449|SNOMEDCT_US:406477003 Displacement of the urethral opening on the dorsal (superior) surface of the penis. HP:0025338 Circumlimbal hyperemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025338 Ciliary limbus|Circumlimbal hyperaemia A ring of redness at the limbus of the eye, the border between the cornea and the sclera. HP:0025339 Superficial episcleral hyperemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025339 Superficial episcleral hypaeremia Prominence of blood vessels of the superficial episcleral tissues. HP:0002699 Abnormality of the foramen magnum biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002699 UMLS:C4025687 Any abnormality of the foramen magnum. HP:0002692 Hypoplastic facial bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002692 UMLS:C4229090|UMLS:C4280268|UMLS:C4280558|UMLS:C4280557|UMLS:C1846438 Underdevelopment of facial bones|Decreased size of facial bones|Underdevelopment of facial skeleton|Small facial bones|Hypotrophic facial skeleton|Hypoplasia of facial skeleton|Decreased size of facial skeleton|Flattening of facial skeleton|Hypotrophic facial bones|Flattening of facial bones|Small facial skeleton HP:0001361 Nystagmus-induced head nodding biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001361 UMLS:C4025788 Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision. HP:0001362 Calvarial skull defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001362 UMLS:C4280595|UMLS:C4025787|UMLS:C4280596 Cranial defect|Skull defect|Calvarial defect A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year. HP:0002693 Abnormality of the skull base biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002693 UMLS:C4025688 Abnormality of the skull base|Abnormality of cranial 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. HP:0002690 Large sella turcica biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002690 UMLS:C1843677|UMLS:C4072846|UMLS:C4072845 Hyperplasia of sella turcica|Hyperplasia of pituitary fossa|Large pituitary fossa|Prominent sella turcica|Enlarged sella turcica|Large hypophysial fossa|Hyperplasia of hypophysial fossa|Big sella turcica An abnormal enlargement of the sella turcica. HP:0000031 Epididymitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000031 UMLS:C0014534|MSH:D004823|SNOMEDCT_US:31070006 The presence of inflammation of the epididymis. HP:0025330 Downgaze palsy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025330 Downgaze paresis|Supranuclear downgaze palsy A limitation of the ability to direct one's gaze below the horizontal meridian. HP:0002691 Platybasia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002691 UMLS:C0032209|SNOMEDCT_US:86587003|MSH:D010985 Increased basal angle of skull base|Obtuse basal angle of skull base|Flattening of the skull base A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base. HP:0000030 Testicular gonadoblastoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000030 UMLS:C1515283|NCIT:C3754 Gonadoblastoma, male The presence of a gonadoblastoma of the testis. HP:0025331 Upgaze palsy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025331 Upgaze paresis|Supranuclear upgaze palsy A limitation of the ability to direct one's gaze above the horizontal meridian. HP:0001360 Holoprosencephaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001360 MSH:D016142|UMLS:C0079541|Fyler:4338|SNOMEDCT_US:30915001 Single brain ventricle Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles. HP:0012011 EEG with occipital focal spike waves biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012011 UMLS:C4023080 EEG with focal sharp transient waves in the occipital region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. HP:0012012 EEG with parietal focal spike waves biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012012 UMLS:C4023079 EEG with focal sharp transient waves in the parietal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. HP:0012013 EEG with temporal focal spike waves biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012013 UMLS:C4023078 EEG with focal sharp transient waves in the temporal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. HP:0012014 EEG with central focal spikes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012014 UMLS:C4023077 EEG with focal sharp transient waves of a duration less than 80 msec in the central region. HP:0012015 EEG with frontal focal spikes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012015 UMLS:C4023076 EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region. HP:0012016 EEG with occipital focal spikes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012016 UMLS:C4023075 EEG with focal sharp transient waves of a duration less than 80 msec in the occipital region. HP:0012017 EEG with parietal focal spikes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012017 UMLS:C4023074 EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region. HP:0012018 EEG with temporal focal spikes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012018 UMLS:C4023073 EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region. HP:0025329 Anti-glutamic acid decarboxylase antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025329 Anti-GAD antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase. HP:0012010 EEG with frontal focal spike waves biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012010 UMLS:C4023081 EEG with focal sharp transient waves in the frontal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. HP:0000044 Hypogonadotropic hypogonadism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000044 UMLS:C0271623|MSH:D007006|UMLS:C3489396|SNOMEDCT_US:33927004 Hypogonadotrophic hypogonadism|Isolated hypogonadotropic hypogonadism|Low gonadotropins (secondary 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). HP:0001376 Limitation of joint mobility biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001376 UMLS:C1857108 Limited joint motion|Limitation of joint mobility|Decreased joint mobility|Decreased mobility of joints|Limited joint mobility A reduction in the freedom of movement of one or more joints. HP:0025321 Copper accumulation in liver biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025321 Liver copper accumulation An anomalous build up of copper (Cu) in the liver. HP:0001377 Limited elbow extension biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001377 UMLS:C1867103 Limitation of elbow extension|Limited extension at elbows|Limited forearm extension|Restricted elbow extension|Limited elbow extension|Decreased elbow extension|Elbow limited extension Limited ability to straighten the arm at the elbow joint. HP:0025322 Venous occlusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025322 Blockage of venous return (flow of blood from the periphery back towards the right atrium) in a vein. HP:0000046 Scrotal hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000046 UMLS:C0431659|SNOMEDCT_US:204912007 Smaller than typical growth of scrotum|Hypoplastic scrotum HP:0001374 Congenital hip dislocation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001374 SNOMEDCT_US:48334007|UMLS:C0019555|MSH:D006618|SNOMEDCT_US:52781008 Congenital dislocation of the hip|Congenital dislocation of the hips|Dislocated hip since birth|Congenital hip anomaly|Congenital hip dislocations HP:0025323 Abnormal arterial physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025323 An anomaly of arterial function. HP:0000045 Abnormality of the scrotum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000045 UMLS:C4025895 HP:0025324 Arterial occlusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025324 Blockage of blood flow through an artery. HP:0025325 Sparse medial eyebrow biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025325 Medial thinning of eyebrow Decreased density/number and/or decreased diameter of medial eyebrow hairs. HP:0000048 Bifid scrotum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000048 UMLS:C0341787|SNOMEDCT_US:236780002 Cleft of scrotum|Scrotal cleft Midline indentation or cleft of the scrotum. HP:0025326 Retinal arterial occlusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025326 Retinal artery occlusion Blockage of the retinal artery, generally associated with interruption of blood flow and oxygen delivery to the retina. HP:0000047 Hypospadias biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000047 Fyler:4504|UMLS:C1691215|SNOMEDCT_US:204888000 Hypospadia 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. HP:0025327 Decreased renal parenchymal thickness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025327 Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans. HP:0000049 Shawl scrotum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000049 UMLS:C1858539 Scrotum surrounds penis|Overriding scrotum Superior margin of the scrotum superior to the base of the penis. HP:0025328 Antepartum hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025328 Antepartum haemorrhage|Prepartum hemorrhage|Prepartum haemorrhage Significant maternal hemorrhage/bleed in the second half of pregnancy and prior to the birth of the baby. HP:0001379 obsolete Degenerative joint disease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001379 HP:0012019 Lens luxation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012019 MSH:D007906|UMLS:C0023309 Dislocated lenses|Dislocated lens Complete dislocation of the lens of the eye. HP:0000040 Long penis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000040 SNOMEDCT_US:88673001|UMLS:C0269011 Long penis|Enlarged penis Penile length more than 2 SD above the mean for age. HP:0001373 Joint dislocation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001373 MSH:D004204|UMLS:C0012691|SNOMEDCT_US:87642003|SNOMEDCT_US:108367008 Joint dislocations|Joint dislocation|Recurrent joint dislocations Displacement or malalignment of joints. HP:0001370 Rheumatoid arthritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001370 SNOMEDCT_US:69896004|MSH:D001172|UMLS:C0003873 Rheumatoid arthritis|RA Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures. HP:0000042 Absent external genitalia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000042 UMLS:C1848869 Absent external genitalia Lack of external genitalia in a male or female individual. HP:0001371 Flexion contracture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001371 SNOMEDCT_US:57048009|SNOMEDCT_US:7890003|SNOMEDCT_US:88565003|SNOMEDCT_US:385522000|MSH:D003286|UMLS:C1850530|SNOMEDCT_US:203598005|SNOMEDCT_US:55033002|UMLS:C0009918|UMLS:C0333068|UMLS:C0009917 Contracture|Flexion contractures|Joint contracture|Flexion contractures of joints|Contractures|Joint contractures|Flexed joint that cannot be straightened A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. HP:0025320 Leakage of dye on fundus fluorescein angiography biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025320 Fluorescein leakage Leakage of fluorescein dye observed upon retinal fluorescein angiography. Areas of leakage can be appreciated as showing gradual enlargement with blurring of margins. HP:0000041 Chordee biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000041 UMLS:C0221182|SNOMEDCT_US:4287008 Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees. HP:0012000 EEG with generalized spikes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012000 UMLS:C2206531 EEG with generalised spikes EEG with generalized sharp transient waves of a duration less than 80 msec. HP:0012001 EEG with generalized polyspikes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012001 UMLS:C4023088 EEG with generalised polyspikes EEG with repetitive generalized sharp transient waves of a duration less than 80 msec. HP:0012002 Experiential epileptic aura biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012002 UMLS:C4023087 Experiential auras|Experiential aura Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context. HP:0012003 Affective epileptic aura biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012003 UMLS:C4023086 Emotional aura|Affective aura|Affective auras Affective auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context. HP:0012004 Focal cognitive seizure with deja vu/jamais vu biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012004 UMLS:C4023085 Mnemonic auras|Mnemonic aura A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation. HP:0012005 Deja vu aura biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012005 UMLS:C0011194|SNOMEDCT_US:313005|MSH:D003690 Deja vu A subjective feeling that an experience which is occurring for the first time has been experienced before. HP:0012006 Jamais vu aura biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012006 SNOMEDCT_US:28249008|UMLS:C0233803 Jamais vu A subjective feeling that an experience which has occurred before is being experienced for the first time. HP:0012007 Focal cognitive seizure with hallucination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012007 UMLS:C4023084 Hallucinatory auras|Hallucinatory aura A focal cognitive seizure characterized by hallucination as the initial semiological manifestation. HP:0000019 Urinary hesitancy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000019 SNOMEDCT_US:5972002|UMLS:C0152032 Difficulty with flow Difficulty in beginning the process of urination. HP:0025318 Ovarian carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025318 NCIT:C4908 Ovarian epithelial cancer A malignant neoplasm originating from the surface ovarian epithelium. HP:0025319 Rubeosis iridis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025319 Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification. HP:0001349 Facial diplegia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001349 UMLS:C1836003 Facial paresis, bilateral|Bilateral facial weakness Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy). HP:0025310 Oval pupil biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025310 An abnormal pupil shape that is elliptical, i.e., egg-like. HP:0001343 Kernicterus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001343 MSH:D007647|SNOMEDCT_US:50143004|UMLS:C0022610|SNOMEDCT_US:74925009 Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction. HP:0000011 Neurogenic bladder biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000011 SNOMEDCT_US:397732007|UMLS:C0005697|SNOMEDCT_US:398064005|MSH:D001750 Lack of bladder control due to nervous system injury A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention. HP:0001344 Absent speech biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001344 UMLS:C1854882|UMLS:C0746940 Nonverbal|Lack of language development|No speech or language development|Absent speech development|No speech development|Lack of speech Complete lack of development of speech and language abilities. HP:0000010 Recurrent urinary tract infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000010 SNOMEDCT_US:197927001|UMLS:C0262655 Recurrent UTIs|Urinary tract infections|Repeated bladder infections|Repeated urinary tract infections|Frequent urinary tract infections|Urinary tract infections, recurrent Repeated infections of the urinary tract. HP:0025311 Anterior chamber cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025311 A closed sac, having a distinct membrane and division compared to the nearby tissue located within the anterior chamber. The sac that may contain air, fluids, or semi-solid material. HP:0000013 Hypoplasia of the uterus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000013 SNOMEDCT_US:35850006|UMLS:C0266399 Hypoplastic uterus|Small uterus|Rudimentary uterus|Underdeveloped uterus Underdevelopment of the uterus. HP:0001341 Olfactory lobe agenesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001341 UMLS:C1855331 Olfactory lobe absence HP:0002672 Gastrointestinal carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002672 UMLS:C0151544 GI carcinoma HP:0025312 Esophoria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025312 A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters. HP:0001342 Cerebral hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001342 UMLS:C2937358|SNOMEDCT_US:230706003|MSH:D002543|MSH:D020300|SNOMEDCT_US:274100004|UMLS:C0553692 Intracerebral hemorrhage|Hemorrhagic stroke|Bleeding in brain|Cerebral haemorrhage Hemorrhage into the parenchyma of the brain. HP:0025313 Exophoria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025313 A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia. HP:0000012 Urinary urgency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000012 UMLS:C3544092|UMLS:C0085606|SNOMEDCT_US:75088002|UMLS:C4020898 Urinary urgency|Urgency frequency syndrome|Overactive bladder|Overactive bladder syndrome Urge incontinence is the strong, sudden need to urinate. HP:0002673 Coxa valga biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002673 SNOMEDCT_US:299236004|UMLS:C3549698|UMLS:C0239137|MSH:D060906 Coxa valga deformity Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults). HP:0001347 Hyperreflexia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001347 SNOMEDCT_US:86854008|UMLS:C0151889|MSH:D012021 Increased reflexes|Increased deep tendon reflexes Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. HP:0000015 Bladder diverticulum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000015 SNOMEDCT_US:197866008|UMLS:C0156273|MSH:C562406 Bladder diverticula Diverticulum (sac or pouch) in the wall of the urinary bladder. HP:0025314 Choroidal nevus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025314 A benign, flat or slightly elevated melanocytic lesions of the posterior uveawith clearly defined margins. Choroidal nevi tend they remain stable in size, and to display features such as overlying drusen as well as retinal pigment epithelial atrophy, hyperplasia or fibrous metaplasia. HP:0002678 Skull asymmetry biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002678 UMLS:C4280563|UMLS:C4280562|UMLS:C0424690|SNOMEDCT_US:248372000 Asymmetry of skull|Uneven skull shape|Unequal skull shape|Skull asymmetry|Abnormality of skull shape|Malformation of skull shape HP:0002679 Abnormality of the sella turcica biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002679 UMLS:C4072839|UMLS:C4021754 Anomaly of the sella turcica|Anomaly of the hypophysial fossa|Abnormality of the pituitary fossa|Abnormality of the hypophysial fossa|Anomaly of the pituitary fossa Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull. HP:0001348 Brisk reflexes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001348 UMLS:C2673700 Brisk deep tendon reflexes Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal. HP:0025315 Exacerbated by head trauma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025315 Applies to a sign or symptom that is worsened, aggravated, or exacerbated by head trauma. HP:0000014 Abnormality of the bladder biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000014 UMLS:C0149632 An abnormality of the urinary bladder. HP:0002676 Cloverleaf skull biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002676 UMLS:C1860050|UMLS:C4280564 Trilobar skull shape|Cloverleaf cranium shape|Trilobar cranium shape|Kleeblattschaedel|Cloverleaf skull shape Trilobar skull configuration when viewed from the front or behind. HP:0000017 Nocturia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000017 UMLS:C0028734|MSH:D053158|SNOMEDCT_US:139394000 Nycturia Abnormally increased production of urine during the night leading to an unusually frequent need to urinate. HP:0001345 Psychotic mentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001345 UMLS:C4025789 HP:0000016 Urinary retention biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000016 SNOMEDCT_US:449491000124101|SNOMEDCT_US:130951007|SNOMEDCT_US:267064002|UMLS:C0080274|MSH:D016055 Increased post-void residual urine volume Inability to completely empty the urinary bladder during the process of urination. HP:0025317 Cubitus varus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025317 A deformity of the elbow in which there is a deviation of the forearm toward the midline of the body. HP:0002677 Small foramen magnum biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002677 UMLS:C4072838|UMLS:C1861217|UMLS:C1535953|SNOMEDCT_US:444879009 Narrow foramen magnum|Stenosis of foramen magnum|Foramen magnum stenosis|Hypoplasia of foramen magnum|Little foramen magnum An abnormal narrowing of the foramen magnum. HP:0012008 Focal cognitive seizure with illusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012008 UMLS:C4023083 Illusory aura|Illusory auras A focal cognitive seizure characterized by an alteration of actual perception involving visual, auditory, somatosensory, olfactory, and/or gustatory phenomena as the initial semiological manifestation. HP:0012009 EEG with central focal spike waves biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012009 UMLS:C4023082 EEG with focal sharp transient waves in the central region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. HP:0002671 Basal cell carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002671 SNOMEDCT_US:275265005|SNOMEDCT_US:254701007|SNOMEDCT_US:1338007|UMLS:C0007117|MSH:D002280|NCIT:C2921|UMLS:C1862314 Basal cell epithelioma|Basal cell carcinomas|Basalioma|Basal cell nevus The presence of a basal cell carcinoma of the skin. HP:0001340 Enhancement of the C-reflex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001340 UMLS:C3552824 Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response. HP:0025307 Acute emergence over hours biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025307 Acute appearance of disease manifestations in a period of hours. HP:0025308 Acute emergence over days biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025308 Acute appearance of disease manifestations in a period of days. HP:0000029 Testicular atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000029 SNOMEDCT_US:17585008|UMLS:C0156312 Testicular degeneration Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility. HP:0025309 Abnormal pupil shape biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025309 Irregular pupil A deviation from the normal circular shape of the pupil HP:0000022 Abnormality of male internal genitalia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000022 UMLS:C4025899 An abnormality of the male internal genitalia. HP:0001355 Megalencephaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001355 SNOMEDCT_US:19410003|UMLS:C0221355|MSH:D058627 Macrencephaly|Enlarged brain Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia). HP:0025300 Malar rash biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025300 Cheekbone rash|Butterfly rash An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose. HP:0002686 Prenatal maternal abnormality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002686 UMLS:C4025690 Maternal health problem HP:0000021 Megacystis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000021 MSH:C536139|UMLS:C1855311 Dilatation of the bladder postnatally. HP:0000024 Prostatitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000024 MSH:D011472|UMLS:C0033581|SNOMEDCT_US:9713002 Inflammation of the prostate The presence of inflammation of the prostate. HP:0025301 Nocturnal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025301 Applies to an abnormality that occurs in or is exacerbated during the night. HP:0002683 Abnormality of the calvaria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002683 UMLS:C4025691|UMLS:C4280561 Abnormality of the skull cap|Abnormality of the skullcap|Abnormality of cranial vault|Abnormality of cranium|Abnormality of calvarium Abnormality of the calvaria, which is the roof of the skull formed by the frontal bone, parietal bones, and occipital bone. HP:0002684 Thickened calvaria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002684 UMLS:C4280560|UMLS:C1858452 Thickened cranium|Increased thickness of calvarium|Thickening of the calvaria|Thickened calvarium|Increased calvarial thickness|Increased thickness of calvaria|Calvarial thickening|Thick calvarium|Calvarium thickened|Increased thickness of cranial vault|Thick calvaria|Thickened calvaria|Increased thickness of cranium|Thickened skull cap|Thickened cranial vault|Increased thickness of skull cap The presence of an abnormally thick calvaria. HP:0000023 Inguinal hernia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000023 MEDDRA:10022016|SNOMEDCT_US:396232000|UMLS:C0019294|MSH:D006552 Protrusion of the contents of the abdominal cavity through the inguinal canal. HP:0025302 Diurnal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025302 Applies to a sign, symptom, or other abnormality that occurs in or is exacerbated in the day time. HP:0000026 Male hypogonadism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000026 SNOMEDCT_US:48723006|MSH:D005058|UMLS:C0151721 Decreased function of male gonad Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis. HP:0002689 Absent paranasal sinuses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002689 UMLS:C1857131|UMLS:C3804986|UMLS:C4072844 Missing paranasal sinuses|Absence of paranasal sinuses|Missing sinuses|Aplasia of paranasal sinuses Aplasia of the paranasal sinuses. HP:0025303 Episodic biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025303 Now and then Applied to a sign, symptom, or other manifestation that occurs multiple times at usually irregular intervals. The occurences are separated by an interval in which the sign, symptom, or manifestation is not present. HP:0025304 Periodic biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025304 Cyclical|Cyclic Applies to a sign, symptom, or other manifestation that recurs with a fixed time interval, i.e., the symptom-free periods are always of the same length. HP:0000025 Functional abnormality of male internal genitalia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000025 UMLS:C4025898 HP:0002687 Abnormality of frontal sinus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002687 UMLS:C4025689 Abnormality of the forehead sinus|Abnormality of sinus frontalis 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. HP:0000028 Cryptorchidism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000028 SNOMEDCT_US:204878001|UMLS:C0010417|MSH:D003456|Fyler:4493 Undescended testis|Undescended testes|Cryptorchism Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. HP:0025305 Quotidian biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025305 Applies to a sign, symptom, or other manifestation that is episodic with a fixed time interval of one day (24 hours). HP:0002688 Absent frontal sinuses biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002688 UMLS:C4280559|UMLS:C1855669 Absent frontal sinus|Absence of frontal sinuses|Aplasia sinus frontalis|Missing frontal sinus|Aplasia of frontal sinus Aplasia of frontal sinus. HP:0001357 Plagiocephaly biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001357 UMLS:C0265529|SNOMEDCT_US:254024005|SNOMEDCT_US:21850008|UMLS:C4072830|UMLS:C4280598|MSH:D049068|MSH:D059041|UMLS:C4280807|UMLS:C1450010|UMLS:C4280597 Flattening of cranial vault|Asymmetry of the posterior skull|Rhomboid shaped skull|Flattening of head|Flattening of cranium|Flat head|Positional plagiocephaly|Asymmetry of the posterior head|Rhomboid shaped head|Flattening of skull|Deformational plagiocephaly|Asymmetry of the posterior cranium|Rhomboid shaped cranium|Flat head syndrome Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape. HP:0025306 Acute emergence over minutes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025306 Acute appearance of disease manifestations in a period of minutes. HP:0000027 Azoospermia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000027 MSH:D053713|SNOMEDCT_US:425558002|UMLS:C0004509|SNOMEDCT_US:48188009 Absent sperm in semen Absence of any measurable level of sperm in his semen. HP:0002681 Deformed sella turcica biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002681 UMLS:C1846437 Abnormal shape of sella turcica|Malformation of sella turcica|Abnormal shape of pituitary fossa|Deformity of pituitary fossa|Malformation of pituitary fossa|Abnormal shape of hypophysial fossa|Malformation of hypophysial fossa|Deformity of hypophysial fossa HP:0001350 Slurred speech biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001350 SNOMEDCT_US:289195008|UMLS:C0234518 Slurred speech Abnormal coordination of muscles involved in speech. HP:0002682 Broad skull biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002682 SNOMEDCT_US:248374004|UMLS:C0424693 Increased width of cranium|Wide cranium|Broad skull|Broad cranium|Increased width of skull|Wide skull Increased width of the skull. HP:0001351 Jerk-locked premyoclonus spikes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001351 UMLS:C3552825 Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG. HP:0000020 Urinary incontinence biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000020 UMLS:C0042024|SNOMEDCT_US:165232002|MSH:D014549 Loss of bladder control|Bladder incontinence Loss of the ability to control the urinary bladder leading to involuntary urination. HP:0002680 J-shaped sella turcica biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002680 UMLS:C4072842|UMLS:C4072841|UMLS:C1854718 Omega shaped pituitary fossa|Hour glass shaped sella turcica|J-shaped pituitary fossa|Omega shaped hypophysial fossa|Hour glass shaped pituitary fossa|Omega shaped sella turcica|J-shaped hypophysial fossa|Hour glass shaped hypophysial fossa|J-shaped sella A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull. HP:0012620 Cloacal abnormality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012620 UMLS:C4022816 A developmental anomaly associated with the failure of rectum, vagina, and bladder to separate. HP:0012621 Persistent cloaca biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012621 UMLS:C0266225|SNOMEDCT_US:74829002 Cloacogenic bladder Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel. HP:0012622 Chronic kidney disease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012622 MSH:D051436|UMLS:C0748318|SNOMEDCT_US:709044004|UMLS:C1561643 Renal failure, progressive|Progressive renal failure|Renal insufficiency, progressive|Loss of renal function|Chronic kidney disease|Progressive renal insufficiency Functional anomaly of the kidney persisting for at least three months. HP:0012623 Stage 1 chronic kidney disease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012623 SNOMEDCT_US:431855005|UMLS:C2316401 A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2). HP:0001967 Diffuse mesangial sclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001967 MSH:C537346|SNOMEDCT_US:111406002|UMLS:C0268747 Mesangial sclerosis|Diffuse mesangial sclerosis glomerulopathy Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion. HP:0000635 Blue irides biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000635 SNOMEDCT_US:301952009|UMLS:C0578626 Blue eyes A markedly blue coloration of the iris. HP:0000634 Impaired ocular abduction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000634 UMLS:C1846462 An impaired ability of the eye to move in the outward direction (towards the side of the head). HP:0000637 Long palpebral fissure biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000637 UMLS:C1849340 Wide opening between the eyelids|Broad opening between the eyelids|Wide palpebral fissures|Broad palpebral fissure|Wide palpebral fissure|Long palpebral fissures|Long opening between the eyelids Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures. HP:0001965 Abnormal scalp morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001965 UMLS:C4025734 Anomaly of scalp|Abnormality of the scalp Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows. HP:0001966 Abnormal glomerular mesangium morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001966 UMLS:C4025733 Abnormality glomerular mesangium morphology|Abnormality of the glomerular mesangium|Mesangial abnormality An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries. HP:0000636 Upper eyelid coloboma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000636 UMLS:C1863872 Notched upper eyelid|Coloboma of the upper eyelid|Full thickness defect of the upper eyelid|Upper eyelid colobomas|Cleft upper eyelid A short discontinuity of the margin of the upper eyelid. HP:0000639 Nystagmus biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000639 UMLS:C0028738|MSH:D009759|SNOMEDCT_US:563001 Involuntary, rapid, rhythmic eye movements Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. HP:0001969 Abnormal tubulointerstitial morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001969 UMLS:C0041349|UMLS:C4025732|MSH:D009395|SNOMEDCT_US:428255004|SNOMEDCT_US:28689008 Tubulointerstitial abnormality|Tubulointerstitial nephropathy An abnormality that involves the tubules and interstitial tissue of the kidney. HP:0001960 Hypokalemic metabolic alkalosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001960 UMLS:C0740898 HP:0000631 Retinal arterial tortuosity biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000631 UMLS:C0423401|SNOMEDCT_US:247123003 Retinal artery tortuousity The presence of an increased number of twists and turns of the retinal artery. HP:0001963 Abnormal speech discrimination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001963 UMLS:C1836752 Poor speech discrimination|Abnormal speech discrimination A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss. HP:0001964 Aplasia/Hypoplasia of metatarsal bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001964 UMLS:C1860182 Absent/hypoplastic metatarsals|Absent/underdeveloped long bone of foot|Absent/small long bone of foot|Aplastic/hypoplastic metatarsals|Absent/hypoplastic metacarpals|Absent or hypoplastic metatarsal Absence or underdevelopment of the metatarsal bones. HP:0000630 Abnormal retinal artery morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000630 UMLS:C4021802 Abnormality of retinal arteries|Retinal arterial abnormality HP:0000633 Decreased lacrimation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000633 UMLS:C0235857 Decreased tear secretion Abnormally decreased lacrimation, that is, reduced ability to produce tears. HP:0001961 Hypoplastic heart biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001961 UMLS:C3151525 Underdeveloped heart|Small heart HP:0000632 Lacrimation abnormality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000632 UMLS:C4021801 Abnormality of tear production Abnormality of tear production. HP:0001962 Palpitations biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001962 SNOMEDCT_US:80313002|UMLS:C0030252 Palpitations|Missed heart beat|Heart palpitations|Skipped heart beat A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. HP:0012624 Stage 2 chronic kidney disease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012624 SNOMEDCT_US:431856006|UMLS:C2316786 A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2). HP:0012625 Stage 3 chronic kidney disease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012625 UMLS:C2316787|SNOMEDCT_US:433144002 A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2). HP:0012626 Stage 4 chronic kidney disease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012626 UMLS:C2317473|SNOMEDCT_US:431857002 Stage 4 chronic kidney disease A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2). HP:0012627 Pseudoexfoliation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012627 UMLS:C4022815 Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor. HP:0012628 Abnormal suspensory ligament of lens morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012628 UMLS:C4021077 Abnormality of zinn's membrane|Abnormality of the suspensory ligament of lens|Zonule of zinn abnormality|Ciliary zonule abnormality An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place. HP:0012629 Phakodonesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012629 UMLS:C2939415|SNOMEDCT_US:116669003 Trembling eye lens|Phacodonesis Tremulousness (trembling) of the lens of the eye. HP:0012610 Abnormality of urinary uric acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012610 UMLS:C4022822 Abnormal concentration of urate in the urine. HP:0012611 Increased urinary urate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012611 UMLS:C0878672 Elevated concentration of urate in the urine. HP:0012612 Abnormal urinary sulfate concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012612 UMLS:C4022821 Abnormal urinary sulphate concentration Abnormal concentration of sulfate in the urine. HP:0000646 Amblyopia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000646 UMLS:C0002418|SNOMEDCT_US:387742006|MSH:D000550 Wandering eye|Lazy eye|Wandering eyes Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. HP:0001978 Extramedullary hematopoiesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001978 UMLS:C1292120|SNOMEDCT_US:42952007|UMLS:C2613439|SNOMEDCT_US:124958002 Extramedullary erythropoiesis The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms. HP:0001976 Reduced antithrombin III activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001976 MSH:D020152|UMLS:C0272375|SNOMEDCT_US:36351005 Anti-thrombin III deficiency|Decreased antithrombin III|Antithrombin III deficiency An abnormality of coagulation related to a decreased concentration of antithrombin-III. HP:0000648 Optic atrophy biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000648 SNOMEDCT_US:76976005|UMLS:C0029124|MSH:D009896 Optic-nerve degeneration|Optic nerve atrophy Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. HP:0001977 Abnormal thrombosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001977 UMLS:C4025731 Abnormal blood clotting|Abnormal blood clot Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis). HP:0000647 Sclerocornea biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000647 MSH:C565209|UMLS:C1853235 Hardening of skin and connective tissue A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea. HP:0000649 Abnormality of visual evoked potentials biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000649 SNOMEDCT_US:102968003|UMLS:C0522214 Abnormal visual-evoked potentials|Abnormal visual evoked potential|Abnormal visual evoked responses|Abnormal vision evoked potentials|VEP abnormalities An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex. HP:0001970 Tubulointerstitial nephritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001970 SNOMEDCT_US:28689008|UMLS:C0041349|MSH:D009395|SNOMEDCT_US:428255004 Nephritis, Tubulointerstitial|Interstitial nephritis A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. HP:0001971 Hypersplenism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001971 UMLS:C0020532|MSH:D006971|SNOMEDCT_US:58381000 A malfunctioning of the spleen in which it prematurely destroys red blood cells. HP:0000640 Gaze-evoked nystagmus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000640 UMLS:C0271390|MSH:D009760|SNOMEDCT_US:29356006 Nystagmus made apparent by looking to the right or to the left. HP:0001974 Leukocytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001974 UMLS:C0023518|SNOMEDCT_US:111583006|MSH:D007964 Increased blood leukocyte number|Elevated white blood count|High white blood count An abnormal increase in the number of leukocytes in the blood. HP:0000642 Red-green dyschromatopsia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000642 SNOMEDCT_US:246674000|SNOMEDCT_US:77479002|UMLS:C1970168|UMLS:C0155016|MSH:D003117 Dyschromatopsia with red-green confusion|Red/green color vision defect|Red green color blindness Difficulty with discriminating red and green hues. HP:0000641 Dysmetric saccades biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000641 UMLS:C1836392 Dysmetric eye saccades|Dysmetric eye movements|Uncoordinated eye movement The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results. HP:0001975 Decreased platelet glycoprotein IIb-IIIa biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001975 UMLS:C0040015|SNOMEDCT_US:32942005|MSH:D013915|UMLS:C4021767 Glanzmann thrombasthenia|Reduced level of platelet glycoprotein IIb/IIIa complex Decreased cell membrane concentration of glycoprotein IIb-IIIa. HP:0001972 Macrocytic anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001972 UMLS:C0002886|MSH:D000748|SNOMEDCT_US:83414005 Macrocytic anaemia A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH). HP:0001973 Autoimmune thrombocytopenia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001973 UMLS:C0920163|SNOMEDCT_US:13172003|UMLS:C0398650|SNOMEDCT_US:234490009|MSH:D016553|UMLS:C0242584|SNOMEDCT_US:32273002|SNOMEDCT_US:128091003 Immune thrombocytopenia|Idiopathic thrombocytopenia|Idiopathic thrombocytopenic purpura The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. HP:0000643 Blepharospasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000643 MSH:D001764|SNOMEDCT_US:59026006|UMLS:C0005747 Involuntary closure of eyelid|Eyelid twitching|Eyelid spasm|Spontaneous closure of eyelid A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids. HP:0012613 Increased urinary sulfate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012613 UMLS:C4022820 Increased urinary sulphate Elevated concentration of SO4(2-), i.e., sulfate, in the urine. HP:0012614 Abnormal urine cytology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012614 UMLS:C0587955|SNOMEDCT_US:310439007 An anomalous finding in the examination of the urine for cells. HP:0012615 Cylindruria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012615 UMLS:C0151990|SNOMEDCT_US:5277004 Urinary casts The presence of renal casts (cylindrical, cigar-shaped structures produced by the kidney in certain disease states) in the urine. HP:0012616 Leukocyte cylindruria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012616 UMLS:C4022819 White blood cell casts Presence of leukocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine. HP:0012617 Erythrocyte cylindruria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012617 UMLS:C4022818 Urinary erythrocyte cast|Red blood cell casts Presence of erythrocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine. HP:0012618 Urachal cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012618 UMLS:C0041915|SNOMEDCT_US:17234001|MSH:D014496 A cyst located along the allantois canal. HP:0012619 Multiple bladder diverticula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012619 UMLS:C4022817 Multiple pouches in bladder wall Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder. HP:0012600 Abnormal urine chloride concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012600 UMLS:C4022827 Abnormal urine Cl- concentration|Abnormal urine Cl concentration An abnormal concentration of chloride in the urine. HP:0012601 Hypochloriduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012601 UMLS:C4021078 Low urine chloride levels|Decreased urinary chloride An decreased concentration of chloride in the urine. HP:0001945 Fever biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001945 SNOMEDCT_US:50177009|SNOMEDCT_US:386661006|MSH:D005334|UMLS:C0015967 Fever|Pyrexia|Hyperthermia Elevated body temperature due to failed thermoregulation. HP:0000613 Photophobia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000613 MSH:D020795|SNOMEDCT_US:409668002|UMLS:C4020887|UMLS:C0085636|SNOMEDCT_US:246622003 Extreme sensitivity of the eyes to light|Light hypersensitivity|Photodysphoria Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. HP:0001946 Ketosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001946 SNOMEDCT_US:2538008|UMLS:C0235430|SNOMEDCT_US:213281004|MSH:D007662|UMLS:C0022638 High levels of ketone bodies|Hyperketosis Presence of elevated levels of ketone bodies in the body. HP:0000612 Iris coloboma biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000612 UMLS:C0240063 Cat eye|Coloboma of iris|Keyhole iris|Coloboma of the iris A coloboma of the iris. HP:0000615 Abnormal pupil morphology biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000615 UMLS:C0154936|SNOMEDCT_US:274093008 Abnormality of the pupil|Pupillary abnormality|Abnormal pupillary morphology|Pupillary abnormalities An abnormality of the pupil. HP:0001943 Hypoglycemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001943 MSH:D007003|UMLS:C0020615|SNOMEDCT_US:237630007|SNOMEDCT_US:302866003|SNOMEDCT_US:271327008 Low blood sugar|Hypoglycaemia A decreased concentration of glucose in the blood. HP:0001944 Dehydration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001944 SNOMEDCT_US:34095006|MSH:D003681|UMLS:C0011175 Dehydration|Exsiccosis HP:0000614 Abnormal nasolacrimal system morphology biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000614 UMLS:C4025835 Abnormality of the nasolacrimal system An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity. HP:0000617 Abnormality of ocular smooth pursuit biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000617 UMLS:C1836393 Impaired smooth pursuit ocular movements|Abnormal smooth pursuits|Irregular visual pursuit movements|Disrupted ocular pursuit movements An abnormality of eye movement characterized by impaired smooth-pursuit eye movements. HP:0001949 Hypokalemic alkalosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001949 SNOMEDCT_US:22774003|UMLS:C0085570 HP:0000616 Miosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000616 UMLS:C0026205|SNOMEDCT_US:63251006|MSH:D015877 Constricted pupils|Pupillary constriction Abnormal (non-physiological) constriction of the pupil. HP:0001947 Renal tubular acidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001947 MSH:D000141|SNOMEDCT_US:1776003|UMLS:C0001126 Accumulation of acid in body due to kidney problem 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. HP:0000619 Impaired convergence biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000619 MSH:D015835|UMLS:C0271379|SNOMEDCT_US:194131002 Convergence insufficiency Reduced ability to turn the eyes inward in order to focus on a nearby object. HP:0000618 Blindness biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000618 Fyler:4866|UMLS:C0271215|SNOMEDCT_US:65956007|MSH:D001766|UMLS:C0456909 Total vision loss|Blindness|Legal blindness Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degress in radius around central fixation. HP:0001948 Alkalosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001948 UMLS:C0002063|MSH:D000471|SNOMEDCT_US:21420006 Depletion of acid or accumulation base in the body fluids. HP:0001941 Acidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001941 SNOMEDCT_US:51387008|UMLS:C0001122|MSH:D000138 Abnormal acid accumulation or depletion of base. HP:0001942 Metabolic acidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001942 SNOMEDCT_US:59455009|MSH:D000138|UMLS:C0220981 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. HP:0000611 obsolete Choroid coloboma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000611 HP:0000610 Abnormal choroid morphology biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000610 UMLS:C0008521|UMLS:C4025836|MSH:D015862 Choroid disease|Abnormality of the choroid Any structural abnormality of the choroid. HP:0012602 Renal chloride wasting biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012602 UMLS:C4022826 Kidney chloride wasting|Renal Cl wasting|Renal Cl- wasting High urine chloride in the presence of hypochloridemia. HP:0012603 Abnormal urine sodium concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012603 UMLS:C4022825 Abnormal urine Na concentration|Abnormal urine Na+ levels An abnormal concentration of sodium in the urine. HP:0012604 Hyponatriuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012604 UMLS:C4022824 Low urine sodium levels An abnormally decreased sodium concentration in the urine. HP:0012605 Hypernatriuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012605 UMLS:C3671887 Increased urinary sodium An increased concentration of sodium(1+) in the urine. HP:0012606 Renal sodium wasting biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012606 UMLS:C2748576 Kidney sodium wasting|Renal Na+ wasting|Renal Na wasting An abnormally increased sodium concentration in the urine in the presence of hyponatremia. HP:0012607 Abnormal urine magnesium concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012607 UMLS:C4022823 Abnormal urine magnesium concentration An abnormal concentration of magnesium the urine. HP:0012608 Hypermagnesiuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012608 UMLS:C2673443 An increased concentration of magnesium the urine. HP:0012609 Hypomagnesiuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012609 UMLS:C3203528 Low urine magnesium levels|Decreased urine magnesium An decreased concentration of magnesium the urine. HP:0001956 Truncal obesity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001956 UMLS:C0311277|MSH:D056128|SNOMEDCT_US:248311001 Centripetal obesity|Truncal obesity Obesity located preferentially in the trunk of the body as opposed to the extremities. HP:0000623 Supranuclear ophthalmoplegia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000623 UMLS:C1408507 A vertical gaze palsy with inability to direct the gaze of the eyes downwards. HP:0001954 Recurrent fever biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001954 SNOMEDCT_US:77957000|UMLS:C0277799 Hyperthermia, episodic|Increased body temperature, episodic|Episodic fever|Intermittent fever Periodic (episodic or recurrent) bouts of fever. HP:0000625 Eyelid coloboma biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000625 UMLS:C0521573|SNOMEDCT_US:95202004 Full thickness defect of the eyelid|Cleft eyelid|Eyelid coloboma|Notched eyelid A short discontinuity of the margin of the lower or upper eyelid. HP:0001955 Unexplained fevers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001955 UMLS:C1844662 Unexplained fevers Episodes of fever for which no infectious cause can be identified. HP:0000627 Posterior embryotoxon biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000627 SNOMEDCT_US:253228006|UMLS:C0344531|UMLS:C0546967|SNOMEDCT_US:392437005 Embryotoxon A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe. HP:0001958 Nonketotic hypoglycemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001958 UMLS:C1865292 HP:0001959 Polydipsia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001959 SNOMEDCT_US:267026004|MSH:D059606|UMLS:C0085602|SNOMEDCT_US:17173007 Extreme thirst Excessive thirst manifested by excessive fluid intake. HP:0000629 Periorbital fullness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000629 UMLS:C1858036 Periorbital puffiness|Periorbital swelling|Fullness around the eyes|Puffy eyes|Puffiness around eye|Swelling around the eyes Increase in periorbital soft tissue. HP:0001952 Glucose intolerance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001952 UMLS:C0235401 Abnormal glucose tolerance|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). HP:0000620 Dacryocystitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000620 MSH:D003607|SNOMEDCT_US:85777005|UMLS:C0010930 Infection of the lacrimal sac|Dacrocystitis Inflammation of the nasolacrimal sac. HP:0001953 Diabetic ketoacidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001953 MSH:D016883|SNOMEDCT_US:420422005|UMLS:C0011880 Diabetic ketosis A type of diabetic metabolic abnormality with an accumulation of ketone bodies. HP:0000622 Blurred vision biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000622 UMLS:C0344232|SNOMEDCT_US:111516008|SNOMEDCT_US:246636008 Blurred vision Lack of sharpness of vision resulting in the inability to see fine detail. HP:0001950 Respiratory alkalosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001950 UMLS:C0002064|SNOMEDCT_US:111378004|MSH:D000472 Alkalosis due to excess loss of carbon dioxide from the body. HP:0000621 Entropion biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000621 UMLS:C0014390|SNOMEDCT_US:33168009|MSH:D004774 Inverted eyelid|Eyelid folded in|Eyelid turned in An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital. HP:0001951 Episodic ammonia intoxication biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001951 UMLS:C1839541 HP:0012660 Thalamic hypometabolism in FDG PET biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012660 UMLS:C4022796 Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the thalamus as measured by positron emission tomography (PET) brain scan. HP:0012661 Hypothalamic hypometabolism in FDG PET biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012661 UMLS:C4022795 Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the hypothalamus as measured by positron emission tomography (PET) brain scan. HP:0011330 Metopic synostosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011330 MSH:D003398|UMLS:C1860819|MSH:C562951|UMLS:C0432122|SNOMEDCT_US:109409003 Metopic craniosynostosis|Metopic suture craniosynostosis Premature fusion of the metopic suture. HP:0011331 Hemifacial atrophy biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011331 SNOMEDCT_US:95834000|SNOMEDCT_US:718224004|UMLS:C0015458|MSH:D005150 Atrophy of half of face|Facial hemiatrophy|Atrophy of one side of the face Unilateral atrophy of facial tissues, including muscles, bones and skin. HP:0012662 Parietal hypometabolism in FDG PET biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012662 UMLS:C4022794 Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan. HP:0011332 Hemifacial hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011332 SNOMEDCT_US:254025006|UMLS:C3495417|MSH:D006053|UMLS:C4023411 Shrinking of one side of the face|Decreased size of half of the face|Decrease in size of half of face|Hemifacial microsomia|Shrinking of half of face|Decreased size of one side of the face|Decrease in size of one side of the face Unilateral underdevelopment of the facial tissues, including muscles and bones. HP:0012663 Mildly reduced ejection fraction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012663 UMLS:C4022793 A small reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 50 percent, and a mild reduction is defined as 40-49 percent. HP:0012664 Reduced ejection fraction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012664 UMLS:C4022792 A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle. HP:0011333 Asymmetric crying face biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011333 SNOMEDCT_US:51409009|UMLS:C4280327|MSH:C535349|UMLS:C0431406 Hypoplasia of depressor angula oris muscle|Partial unilateral facial paresis|Asymmetric crying face Asymmetry observed in the face of a neonate or infant whose face appears symmetric at rest and asymmetric during crying as the mouth is pulled downward on one side while not moving on the other side. HP:0011334 Facial shape deformation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011334 UMLS:C4021159 Distortion of facial shape|Facial shape compression|Facial shape deformation HP:0012665 Moderately reduced ejection fraction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012665 UMLS:C4022791 A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. HP:0011335 Frontal hirsutism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011335 UMLS:C1839830 Hirsute forehead|Hairy forehead Excessive amount of hair growth on forehead. HP:0012666 Severely reduced ejection fraction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012666 UMLS:C4022790 A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent. HP:0011336 Bitemporal forceps marks biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011336 UMLS:C4020754|UMLS:C4023409 Congenital, bilateral, scarlike facial lesions|Congenital ectodermal dysplasia of the face|Temporal skin defect|Bitemporal aplasia cutis congenita|Focal facial dermal dysplasia Bilateral temporal scarlike defects, which are said to resemble forceps marks. HP:0012667 Regional left ventricular wall motion abnormality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012667 UMLS:C4022789 An abnormal motion of a segment of the left ventricle during the cardiac cycle. HP:0000679 Taurodontia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000679 UMLS:C4280616|UMLS:C0266039|SNOMEDCT_US:51744007|MSH:C536946 Large elongated pulp chamber|Taurodontism|Taurodont Increased volume of dental pulp of permanent molar. HP:0010005 Partial duplication of the middle phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010005 UMLS:C4024115 Partial duplication of the middle bones of 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. HP:0000678 Dental crowding biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000678 UMLS:C0040433|SNOMEDCT_US:12351004|UMLS:C1317785|UMLS:C4280618|MSH:D008310|UMLS:C4280617|SNOMEDCT_US:699222000 Overcrowding of teeth|Dental overcrowding|Dental crowding|Inadequate arch length for tooth size|Tooth mass arch size discrepancy|Tooth size discrepancy|Crowded teeth Overlapping teeth within an alveolar ridge. HP:0010004 Partial duplication of the distal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010004 UMLS:C4021348 Partial duplication of the outermost bone of the hand|Bifid terminal 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. HP:0010003 Partial duplication of the proximal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010003 UMLS:C4024116 Partial duplication of the innermost bones of the hand A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the proximal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. HP:0010002 Complete duplication of the middle phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010002 UMLS:C4024117 Complete duplication of the middle bones of the hand A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism. HP:0010001 Complete duplication of the distal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010001 UMLS:C4024118 Complete duplication of the outermost bones of the hand A complete duplication affecting one or more of the distal phalanges of the hand. HP:0010000 Complete duplication of the proximal phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010000 UMLS:C4024119 Complete duplication of the innermost bones of the hand A complete duplication affecting one or more of the proximal phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. HP:0410148 Idiopathic anaphylaxis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410148 A rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment. HP:0410147 Eosinophilic infiltration in the stomach mucosa biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410147 Eosinophilic gastritis Infiltration of eosinophils in the stomach mucosa, that is diagnosed by an upper endoscopy and microscopy that shows more than 20 eosinophils per high-power field in association with peripheral eosinophilia and the absence of secondary cause of eosinophilia. HP:0000670 Carious teeth biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000670 UMLS:C4280623|SNOMEDCT_US:80967001|UMLS:C0011334|MSH:D003731 Tooth decay|Frequent caries|Dental decay|Dental cavities|Dental caries|Cariosity of teeth|Early dental caries|Rotting teeth|Tooth cavities|Caries Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. HP:0410146 Increased biotinidase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410146 An increase in biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation. HP:0410145 Decreased biotinidase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410145 A decrease in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation. HP:0000675 Macrodontia of permanent maxillary central incisor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000675 UMLS:C4280621|UMLS:C1835095|UMLS:C4280620|UMLS:C4280263 Long maxillary central incisors|Prominent, protruding upper incisors|Prominent upper incisors|Increased width of permanent upper central incisor|Hyperplasia of permanent maxillary central incisor|Increased size of permanent maxillary central incisor|Large permanent maxillary central incisor|Increased size of permanent upper central incisor|Hypertrophy of permanent maxillary central incisor|Increased width of permanent maxillary central incisor|Large permanent upper central incisor Increased size of the maxillary central secondary incisor tooth. HP:0010009 Abnormality of the 1st metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010009 UMLS:C4024114 Abnormality of the 1st long bone of hand A structural anomaly of the first metacarpal. HP:0000674 Anodontia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000674 SNOMEDCT_US:16958000|UMLS:C0399352|SNOMEDCT_US:26624006|UMLS:C4280622|MSH:D000848 Complete agenesis of all teeth|Failure of development of all teeth|Complete anodontia|Missing all teeth|Total anodontia|Total absence of all teeth|Dental agenesis|Anodontia vera The congenital absence of all teeth. HP:0010008 Duplication of the middle phalanx of hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010008 UMLS:C4021346 Duplication of the middle bones of hand|Partial/complete duplication of the middle phalanges of the hand This term applies if one or more of the middle phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. HP:0000677 Oligodontia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000677 UMLS:C4280619|UMLS:C4082304 Failure of development of more than six teeth|Partial anodontia|Number of teeth decreased by more than six|Missing more than six teeth A developmental anomaly characterized by a reduced number of teeth, whereby more than 6 teeth are missing. HP:0010006 Duplication of the proximal phalanx of hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010006 UMLS:C4021347 Duplication of the innermost bones of hand|Partial/complete duplication of the proximal phalanges of the hand This term applies if one or more of the proximal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. HP:0000676 Abnormality of the incisor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000676 UMLS:C4025833 An abnormality of the Incisor tooth. HP:0410149 Drug-induced anaphylaxis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410149 Drug induced anaphylaxis A form of anaphylaxis that is triggered by intake of drugs or medications. HP:0012668 Vasovagal syncope biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012668 UMLS:C0340854|SNOMEDCT_US:398665005|UMLS:C0042420|MSH:D019462|SNOMEDCT_US:398652001|SNOMEDCT_US:234167006|MSH:D013575 Reflex syncope|Neurocardiogenic syncope|Situational syncope HP:0011337 Abnormality of mouth size biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011337 UMLS:C4023408 Anomaly of mouth size|Abnormality of mouth size HP:0009005 Weakness of the intrinsic hand muscles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009005 UMLS:C1834536 Intrinsic hand muscle weakness HP:0011338 Abnormality of mouth shape biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011338 Fyler:4874|UMLS:C4023407 Unusual mouth shape|Abnormality of mouth shape|Anomaly of mouth shape An abnormality of the outline, configuration, or contour of the mouth. HP:0009004 Hypoplasia of the musculature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009004 UMLS:C0240414|SNOMEDCT_US:205530002 Poorly developed skeletal musculature|Underdeveloped muscle|Underdeveloped muscles|Muscle hypoplasia Underdevelopment of the musculature. HP:0012669 Carotid sinus syncope biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012669 UMLS:C0221046|MSH:D013575|SNOMEDCT_US:51723007 An exaggerated response to carotid sinus baroreceptor stimulation resulting in syncope from transient diminished cerebral perfusion. HP:0011339 Abnormality of upper lip vermillion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011339 UMLS:C4023406 Anomaly of the upper lip vermillion|Abnormality of the red part of the upper lip|Deformity of the upper lip vermillion|Malformation of the upper lip vermillion An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin. HP:0009007 Biceps hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009007 UMLS:C1862499 Underdeveloped biceps|Hypoplastic biceps Underdevelopment of the biceps muscle. HP:0410144 Abnormal biotinidase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410144 An abnormality in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation. HP:0009003 Increased subcutaneous truncal adipose tissue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009003 UMLS:C1837781 Increased fat below the skin in trunk The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body. HP:0009002 Loss of truncal subcutaneous adipose tissue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009002 UMLS:C1835384 Loss of truncal adipose tissue|Loss of fat tissue in trunk|Loss of subcutaneous truncal adipose tissue Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk. HP:0012650 Perisylvian polymicrogyria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012650 UMLS:C3279675 Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly. HP:0011320 Unilambdoid synostosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011320 UMLS:C4021162 Unilateral lambdoid suture synostosis|Unilateral lambdoid craniosynostosis Premature synostosis of only one lambdoid suture. HP:0012651 Abasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012651 UMLS:C0877217 A severe form of gait ataxia such that an affected person cannot walk at all. HP:0011321 Left unilambdoid synostosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011321 UMLS:C4023415 Premature synostosis of only the left lambdoid suture. HP:0012652 Exercise-induced asthma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012652 SNOMEDCT_US:31387002|UMLS:C0004099|MSH:D001250 Exercise-induced asthma Asthma attacks following exercise. HP:0009020 Exercise-induced muscle fatigue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009020 UMLS:C1855580 An abnormally increased tendency towards muscle fatigue induced by physical exercise. HP:0012653 Status asthmaticus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012653 UMLS:C0038218|SNOMEDCT_US:708090002|MSH:D013224 Acute severe asthma Severe asthma unresponsive to repeated courses of beta-agonist therapy such as inhaled albuterol, levalbuterol, or subcutaneous epinephrine. HP:0011322 Right unilambdoid synostosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011322 UMLS:C4023414 Premature synostosis of only the right lambdoid suture. HP:0012654 Abnormal CSF dopamine level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012654 UMLS:C4022802 Abnormal concentration of dopamine in the cerebrospinal fluid (CSF). HP:0011323 Cleft of chin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011323 UMLS:C1849227 Midline defect of chin|Cleft of chin Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin. HP:0011324 Multiple suture craniosynostosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011324 UMLS:C4021161 Multisutural craniosynostosis Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified. HP:0012655 Elevated CSF dopamine level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012655 UMLS:C4022801 Increased concentration of dopamine in the cerebrospinal fluid (CSF). HP:0012656 Reduced CSF dopamine level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012656 UMLS:C4022800 Decreased concentration of dopamine in the cerebrospinal fluid (CSF). HP:0011325 Pansynostosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011325 UMLS:C4021827 Sysnostosis of all cranial sutures Craniosynostosis of all calvarial sutures. HP:0000689 Dental malocclusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000689 UMLS:C4280614|UMLS:C0024636|MSH:D008310|UMLS:C4280613|SNOMEDCT_US:47944004|SNOMEDCT_US:707598004 Malocclusion of teeth|Angle class 2 malocclusion|Malalignment of upper and lower dental arches|Misalignment of upper and lower dental arches|Bad bite|Angle class 3 malocclusion|Bilateral crossbite malocclusion|Bilateral crossbite|Incorrect relation between upper and lower dental arches|Malocclusion Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns. HP:0000682 Abnormality of dental enamel biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000682 UMLS:C4280615|UMLS:C4280262|UMLS:C4021800 Malformation of dental enamel|Enamel abnormality|Malformation of tooth enamel|Dystrophic tooth enamel|Defective tooth enamel|Enamel abnormalities|Abnormal tooth enamel An abnormality of the dental enamel. HP:0410137 Solar urticaria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410137 Urticaria in response to exposure to ultraviolet-A (UVA), ultraviolet-B (UVB), visible and rarely infrared light. HP:0410136 Aquagenic urticaria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410136 A form of physical urticaria, in which contact with water, regardless of its temperature and source, evokes pruritic follicular wheals on the skin. HP:0410135 Cold urticaria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410135 Urticaria may be caused by cold temperatures. HP:0000684 Delayed eruption of teeth biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000684 SNOMEDCT_US:5639000|UMLS:C0239174 Late tooth eruption|Eruption, delayed|Delayed teeth eruption|Delayed eruption|Delayed tooth eruption|Delayed dental eruption|Late eruption of teeth|Delayed dental development|Delayed eruption of teeth Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age. HP:0000683 Grayish enamel biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000683 UMLS:C1854783 Gray tooth shade|Grayish enamel|Greyish enamel|Gray colored tooth enamel A grey discoloration of the dental enamel. HP:0410134 Physical urticaria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410134 Urticaria caused by physical agents, such as heat, cold, light, friction. HP:0000685 Hypoplasia of teeth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000685 UMLS:C0235357|UMLS:C4280611 Underdevelopment of teeth|Hypoplastic teeth|Decreased size of teeth Developmental hypoplasia of teeth. HP:0009019 Progressive loss of facial adipose tissue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009019 UMLS:C1837510 Progressive loss of subcutaneous adipose tissue from face|Loss of subcutaneous adipose tissue from face, progressive|Facial fat wasting|Facial fat atrophy|Progressive loss of facial subcutaneous adipose tissue|Atrophy of facial adipose tissue|Progressive loss of facial fat HP:0410139 Exercise induced anaphylaxis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410139 Anaphylaxis after physical activity. HP:0410138 Vibratory urticaria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410138 Urticaria in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum. HP:0000687 Widely spaced teeth biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000687 UMLS:C1844813 Wide-spaced teeth|Generalized dental spacing|Generalized spacing of teeth|Multiple diastemata|Widely-spaced teeth|Widely spaced teeth Increased spaces (diastemata) between most of the teeth in the same dental arch. HP:0011326 Anterior plagiocephaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011326 SNOMEDCT_US:254020001|UMLS:C4280330|UMLS:C4023413|UMLS:C0432124|UMLS:C4280329|UMLS:C4280328 Positional anterior plagiocephaly|Positional frontal plagiocephaly|Coronal synostosis|Deformational frontal plagiocephaly|Frontal plagiocephaly|Unicoronal craniosynostosis|Anterior flat head syndrome|Deformational anterior plagiocephaly Asymmetry of the anterior part of the skull. HP:0009016 Upper limb muscle hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009016 UMLS:C1846478 Underdevelopment of upper limb muscles Underdevelopment of muscles of the arm. HP:0012657 Abnormal brain positron emission tomography biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012657 UMLS:C4022799 Abnormal brain PET scan A functional brain anomaly detectable by positron emission tomography (PET). PET scanning is a method for functional brain imaging, and its measurements reflect the amount of brain activity in the various regions of the brain. HP:0012658 Abnormal brain FDG positron emission tomography biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012658 UMLS:C4022798 Abnormal brain FDG PET scan An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity. HP:0011327 Posterior plagiocephaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011327 UMLS:C4021160 Occipital plagiocephaly|Deformational posterior plagiocephaly Asymmetry of the posterior part of the skull. HP:0012659 Prefrontal hypometabolism in FDG PET biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012659 UMLS:C4022797 Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the prefrontal cortex as measured by positron emission tomography (PET) brain scan. HP:0011328 Abnormality of fontanelles biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011328 UMLS:C4020755 Anomaly of the fontanelles An abnormality of the fontanelle. HP:0011329 Abnormality of cranial sutures biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011329 UMLS:C4023412 Abnormality of cranial sutures|Abnormality of the bregma sutures|Abnormality of the skull suture|Abnormality of the cranial sutures|Abnormality of the calvarium sutures Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant. HP:0009017 Loss of gluteal subcutaneous adipose tissue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009017 UMLS:C4024606 Loss of fat tissue below the skin in gluts Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region. HP:0410133 Chronic idiopathic urticaria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410133 Chronic spontaneous urticaria|CSU|CIU Urticaria characterized by spontaneously recurring hives for 6 weeks or longer. HP:0009011 Hypoplasia of serratus anterior muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009011 UMLS:C1868167 Underdevelopment of the serratus anterior muscle, which is involved in abduction, upward Rotation, and elevation of the scapula. HP:0410132 Increased level of L-pyroglutamic acid in urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410132 Increased level of 5-oxo-L-proline in urine|Elevated urine 5-oxoproline An increase in the level of L-pyroglutamic acid in the urine. HP:0000680 Delayed eruption of primary teeth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000680 UMLS:C1849538 Late eruption of baby teeth|Delayed eruption of baby teeth|Delayed primary teeth eruption|Delayed eruption of deciduous teeth|Late eruption of primary teeth|Late eruption of milk teeth|Delayed eruption of milk teeth Delayed tooth eruption affecting the primary dentition. HP:0009013 Congenital absence of gluteal muscles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009013 MSH:C535561|UMLS:C2930932 HP:0012640 Abnormality of intracranial pressure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012640 UMLS:C4022809 A deviation from the norm of the intracranial pressure. HP:0011310 Bridged palmar crease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011310 UMLS:C4021166 Transitional palmar crease|Bridged palm line A crease that connects the proximal and distal transverse palmar creases. HP:0012641 Decreased intracranial pressure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012641 SNOMEDCT_US:277657001|UMLS:C0456892|SNOMEDCT_US:167714004 Intracranial hypotension A reduction of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid. HP:0011311 Sydney crease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011311 UMLS:C4023420 Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm. HP:0012642 Cerebellar agenesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012642 UMLS:C4022808 Lack of development of the cerebellum. HP:0012643 Foveal hypopigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012643 UMLS:C4022807 Decreased amount of pigmentation in the fovea centralis. HP:0011312 Fused nails biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011312 UMLS:C4023419 Fused nails A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature. HP:0012644 Increased caudate lactate level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012644 UMLS:C4022806 An elevated concentration of lactate in the caudate nucleus. This finding can be elicited by magnetic resonance spectroscopy imaging. HP:0011313 Narrow nail biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011313 UMLS:C4021829 Narrow nail Decreased width of nail. HP:0012645 Enlarged peripheral nerve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012645 UMLS:C2675074 Enlarged peripheral nerves Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve. HP:0011314 Abnormality of long bone morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011314 UMLS:C4021165 Abnormal shape of long bone|Abnormality of the tubular bones An abnormality of size or shape of the long bones. HP:0001989 Fetal akinesia sequence biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001989 MSH:C536647|UMLS:C1276035|SNOMEDCT_US:401138005|UMLS:C3151520 Fetal akinesia|Early severe fetal akinesia sequence|Foetal akinesia sequence Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia). HP:0000657 Oculomotor apraxia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000657 UMLS:C4020886|MSH:C537423|SNOMEDCT_US:193662007|UMLS:C3489733 Defective or absent horizontal voluntary eye movements|Ocular motor apraxia Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex. HP:0000656 Ectropion biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000656 MSH:D004483|SNOMEDCT_US:127559009|SNOMEDCT_US:62909004|UMLS:C0013592 Eyelid folded out|Eyelid turned out|Everted eyelid An outward turning (eversion) or rotation of the eyelid margin. HP:0000659 Peters anomaly biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000659 SNOMEDCT_US:204153003|MSH:C537884|UMLS:C0344559 A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity. HP:0001987 Hyperammonemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001987 MSH:D022124|SNOMEDCT_US:9360008|UMLS:C0220994 High blood ammonia levels An increased concentration of ammonia in the blood. HP:0001988 Recurrent hypoglycemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001988 UMLS:C1846288 Recurrent hypoglycemic episodes|Recurrent hypoglycaemia|hypoglycaemia, recurrent|hypoglycemia, recurrent|Hypoglycemic episodes|Recurrent low blood sugar levels Recurrent episodes of decreased concentration of glucose in the blood. HP:0000658 Eyelid apraxia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000658 UMLS:C1142448|SNOMEDCT_US:423142006 Difficulty opening the eyelids HP:0001981 Schistocytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001981 SNOMEDCT_US:385472000|UMLS:C0344386 Schistocytes The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood. HP:0410169 Abnormal morphology of the shoulder musculature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410169 Muscle issues in the shoulder|Abnormality of the shoulder musculature Any abnormality of the shoulder muscles. HP:0001982 Sea-blue histiocytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001982 MSH:D012618|UMLS:C0036489|SNOMEDCT_US:37821003 'Sea blue' histiocytes|Sea-blue histiocyte An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa. HP:0000651 Diplopia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000651 SNOMEDCT_US:24982008|MSH:D004172|UMLS:C0012569 Double vision Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. HP:0410168 Abnormality of the back musculature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410168 Muscle issues in the back Any abnormality of the back muscles. HP:0410167 Abnormal morphology of the chest musculature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410167 Abnormality of the chest musculature|Muscle issues in the chest Any abnormality of the chest muscles. HP:0001980 Megaloblastic bone marrow biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001980 SNOMEDCT_US:167921008|UMLS:C0238801 Abnormal increased number of megaloblasts in the bone marrow. HP:0000650 Abnormal amplitude of pattern reversal visual evoked potentials biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000650 UMLS:C4025834 HP:0001985 Hypoketotic hypoglycemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001985 UMLS:C1856438 Hypoglycemia, hypoketotic A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies. HP:0000653 Sparse eyelashes biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000653 UMLS:C1843300 Sparse eyelashes|Scant eyelashes|Thin eyelashes|Scanty eyelashes|Partial absence of eyelashes|Hypotrichosis of eyelashes Decreased density/number of eyelashes. HP:0001986 Hypertonic dehydration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001986 UMLS:C1112601 Hyperosmolar dehydration HP:0000652 Lower eyelid coloboma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000652 UMLS:C1837826 Cleft lower eyelid|Coloboma of lower eyelid|Notched lower eyelid|Full thickness defect of the lower eyelid|Lower lid coloboma A short discontinuity of the margin of the lower eyelid. HP:0001983 Reduced lymphocyte surface expression of CD43 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001983 UMLS:C4021766 Reduced lymphocyte surface expression of sialophorin|Cd43 defectively expressed on surface of blood cells A reduction in the expression of CD43 on the cell surface of lymphocytes. HP:0000655 obsolete Vitreoretinal degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000655 HP:0000654 Decreased light- and dark-adapted electroretinogram amplitude biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000654 UMLS:C1839025 Reduced ERG|Reduced or abolished electroretinogram|Decreased amplitudes on flash visual electroretinogram|Decreased ERG amplitude|Decreased electroretinogram response|Reduced electroretinogram|Decreased electroretinogram|Flattened or absent electroretinogram|Decreased electroretinogram amplitude Descreased amplitude of eletrical response upon electroretinography. HP:0001984 Intolerance to protein biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001984 UMLS:C1396243 HP:0011315 Unicoronal synostosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011315 UMLS:C4023418|UMLS:C4020756 Unilateral coronal suture synostosis|Unilateral coronal craniosynostosis|Unilateral coronal suture craniosynostosis Synostosis affecting only one of the coronal sutures. HP:0012646 Retractile testis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012646 UMLS:C0520578|SNOMEDCT_US:21779006 Retractile testicle 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. HP:0011316 Left unicoronal synostosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011316 UMLS:C4023417 Synostosis affecting only the left coronal suture. HP:0012647 Abnormal inflammatory response biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012647 UMLS:C4022805 Abnormal inflammatory response Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. HP:0012648 Decreased inflammatory response biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012648 UMLS:C4022804 Decreased inflammatory response An abnormal reduction in the inflammatory response to injury or infection. HP:0011317 Right unicoronal synostosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011317 UMLS:C4023416 Unicoronal synostosis affecting only the right coronal suture. HP:0012649 Increased inflammatory response biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012649 UMLS:C4022803 A abnormal increase in the inflammatory response to injury or infection. HP:0011318 Bicoronal synostosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011318 UMLS:C4021164 Bilateral coronal suture synostosis|Bilateral coronal craniosynostosis|Bilateral coronal suture craniosynostosis Synostosis affecting the right and the left coronal suture. HP:0011319 Bilambdoid synostosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011319 UMLS:C4021163 Bilateral lambdoid craniosynostosis|Bilateral lambdoid suture synostosis Premature synostosis of both lambdoid sutures. HP:0410166 Defective interstrand cross-link repair biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410166 A defect in the of the process of interstrand cross-link repair: removal of a DNA interstrand crosslink (a covalent attachment of DNA bases on opposite strands of the DNA) and restoration of the DNA. DNA interstrand crosslinks occur when both strands of duplex DNA are covalently tethered together (e.g. by an exogenous or endogenous agent), thus preventing the strand unwinding necessary for essential DNA functions such as transcription and replication. HP:0012630 Abnormal trabecular meshwork morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012630 UMLS:C4022814 Abnormality of the trabecular meshwork An anomaly of the trabecular meshwork, which is the porelike structure surrounding the entire circumference of the anterior chamber at the base of the cornea and near the ciliary body. The trabecular mesh work is responsible for draining the aqueous humor into the canal of Schlemm. HP:0011300 Broad fingertip biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011300 UMLS:C1968816 Broad fingertips|Broad fingertip Increased width of the distal segment of a finger. HP:0012631 Pigment deposition in the trabecular meshwork biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012631 UMLS:C3805899 Accumulation of abnormal amounts of pigment within the trabecular meshwork. HP:0011301 Absent foot biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011301 UMLS:C0265624|SNOMEDCT_US:371197005 Aplasia of the foot|Absent foot|Apodia The total absence of the foot, with no bony elements distal to the tibia or fibula. HP:0012632 Abnormal intraocular pressure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012632 MP:0005257|UMLS:C0520999|SNOMEDCT_US:24075007 Abnormal eye pressure|Abnormal intraocular pressure An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye. HP:0011302 Long palm biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011302 UMLS:C4023422 Long palm For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length. HP:0012633 Asymmetry of intraocular pressure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012633 UMLS:C3805901 A difference in the amount of intraocular pressure in the right and left eye. HP:0012634 Iris pigment dispersion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012634 UMLS:C4022813 Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor. HP:0011303 Convex contour of sole biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011303 UMLS:C4023421 The contour of the foot in lateral profile has a convex shape. HP:0000668 Hypodontia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000668 SNOMEDCT_US:64969001|MSH:D000848|UMLS:C0020608 Missing between one and six teeth|Failure of development of between one and six teeth A developmental anomaly characterized by a reduced number of teeth, whereby up to 6 teeth are missing. HP:0000667 Phthisis bulbi biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000667 SNOMEDCT_US:4229009|UMLS:C0271007 Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease. HP:0001998 Neonatal hypoglycemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001998 SNOMEDCT_US:52767006|UMLS:C0158986 Low blood sugar in newborn HP:0001999 Abnormal facial shape biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001999 UMLS:C0424503|UMLS:C0266617|UMLS:C4072833|SNOMEDCT_US:248200007|SNOMEDCT_US:32003007|UMLS:C1385263|UMLS:C4072832|SNOMEDCT_US:398206004|SNOMEDCT_US:398302004 Abnormal facial shape|Distinctive facies|Facial dysmorphism|Deformity of face|Funny looking face|Abnormal morphology of the face|Malformation of face|Distortion of face|Unusual facies|Dysmorphic facial features|Dysmorphic facies|Unusual facial appearance An abnormal morphology (form) of the face or its components. HP:0000660 Lipemia retinalis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000660 UMLS:C0339477|SNOMEDCT_US:95692001 A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature. HP:0001992 Organic aciduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001992 UMLS:C0241775 Excretion of non-amino organic acids in urine. HP:0001993 Ketoacidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001993 UMLS:C0220982|SNOMEDCT_US:56051008 Acidosis resulting from accumulation of ketone bodies. HP:0410158 Increased urine O-phosphoethanolamine level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410158 Increased level of O-phosphoethanolamine in urine An increase in the level of O-phosphoethanolamine in the urine. HP:0410157 Increased level of N-acetylneuraminic acid in fibroblasts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410157 Increased level of Neu5Ac in fibroblasts|Increased level of NANA in fibroblasts|Increased level of sialic acid in fibroblasts An increase in the level of N-acetylneuraminic acid in cultured fibroblasts. HP:0000662 Nyctalopia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000662 SNOMEDCT_US:65194006|UMLS:C4020885|UMLS:C0028077|MSH:D009755 Difficulties with night vision|Night-blindness|Poor night vision|Night blindness Inability to see well at night or in poor light. HP:0000661 Palpebral fissure narrowing on adduction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000661 UMLS:C1846465 HP:0410156 Increased level of N-acetylneuraminic acid in urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410156 Increased level of NANA in urine|Increased level of Neu5Ac in urine An increase in the level of N-acetylneuraminic acid in the urine. HP:0001991 Aplasia/Hypoplasia of toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001991 UMLS:C3551148 Aplastic/hypoplastic toe phalanges|Absent/underdeveloped toe|Absent/hypoplastic toes|Absent/small toe Absence or hypoplasia of toes. HP:0000664 Synophrys biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000664 SNOMEDCT_US:253207002|UMLS:C0431447 Synophris|Monobrow|Unibrow Meeting of the medial eyebrows in the midline. HP:0001996 Chronic metabolic acidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001996 UMLS:C0740749 Longstanding metabolic acidosis. HP:0001997 Gout biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001997 SNOMEDCT_US:90560007|MSH:D015210|UMLS:C0018099|SNOMEDCT_US:170733007|SNOMEDCT_US:190828008|SNOMEDCT_US:48440001|UMLS:C0003868|MSH:D006073 Gouty arthritis Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues. HP:0001994 Renal Fanconi syndrome biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001994 MSH:D005198|SNOMEDCT_US:236468006|SNOMEDCT_US:44673006|UMLS:C0341703 Renal tubular fanconi syndrome|'de toni-fanconi-debre' syndrome An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water. HP:0000666 Horizontal nystagmus biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000666 SNOMEDCT_US:81756001|UMLS:C0271385|MSH:D009759 Nystagmus, horizontal Nystagmus consisting of horizontal to-and-fro eye movements. HP:0001995 Hyperchloremic acidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001995 SNOMEDCT_US:18104000|UMLS:C0085569 Acidosis (pH less than 7.35) that develops with an increase in ionic chloride. HP:0012635 Iris hypoperfusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012635 UMLS:C4022812 Reduction in the amount of blood flow to the iris. HP:0410151 Eosinophilic infiltration of the esophagus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410151 Eosinophilic infiltration of the oesophagus|Eosinophilic esophagitis Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus. HP:0011304 Broad thumb biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011304 SNOMEDCT_US:249773003|UMLS:C0426891 Broad thumb|Wide/broad thumb|Wide/broad thumb phalanges|Broad thumbs|Broad phalanges of the thumb Increased thumb width without increased dorso-ventral dimension. HP:0012636 Retinal vein occlusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012636 MSH:D012170|SNOMEDCT_US:46085004|UMLS:C0035328 Blockage of the retinal vein. HP:0011305 Partial absence of toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011305 UMLS:C4021169 Partial absence of toe|Hypophalangy of toes The absence of a phalangeal segment of a toe or hallux. HP:0012637 Renal calcium wasting biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012637 UMLS:C2673441 Kidney calcium wasting|Kidney Ca wasting|Renal Ca2+ wasting|Renal Ca wasting|Kidney Ca2+ wasting High urine calcium in the presence of hypocalcemia. HP:0011307 Splayed toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011307 UMLS:C2117390 Splayed toes Divergence of digits along the anteroposterior axis (in the plane of the sole). HP:0012638 Abnormal nervous system physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012638 UMLS:C4022811 Abnormality of nervous system physiology A functional anomaly of the nervous system. HP:0011308 Slender toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011308 UMLS:C4021168 Slender toe|Narrow toe Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual. HP:0012639 Abnormal nervous system morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012639 UMLS:C4022810|Fyler:4300|Fyler:4135 Abnormal nervous system morphology|Abnormal shape of nervous system|Abnormality of nervous system morphology A structural anomaly of the nervous system. HP:0011309 Tapered toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011309 UMLS:C4021167 Tapered toe|Tapering toes The gradual reduction in girth of the toe from proximal to distal. HP:0410154 Increased level of myristic acid in serum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410154 Increased level of tetradecanoic acid in serum An increase in the level of myristic acid in the serum. HP:0410153 Increased level of methylsuccinic acid in urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410153 Increased level of pyrotartaric acid in urine An increase in the level of methylsuccinic acid in the urine. HP:0410152 Eosinophilic microabscess formation in the esophagus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410152 Eosinophilic micro-abscess formation in the esophagus|Eosinophilic microabscess formation in the oesophagus The formation of small localized collection of eosinophiles (an eosinophilic microabscess) in the esophagus. Usually clusters of greater than or equal to 4 eosinophils are seen, that appear as exudates or white spots or white plaques. HP:0410191 Increased glucose-6-phosphate dehydrogenase level in leukocytes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410191 Increased G6PD level in leukocytes An increase in the level of glucose-6-phosphate dehydrogenase in leukocytes. HP:0410190 Decreased glucose-6-phosphate dehydrogenase level in leukocytes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410190 Decreased G6PD level in leukocytes A decrease in the level of glucose-6-phosphate dehydrogenase in leukocytes. HP:0410189 Increased glucose-6-phosphate dehydrogenase level in red blood cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410189 Increased G6PD level in red blood cells|Increased G6PD level in RBCs An increase in the level of glucose-6-phosphate dehydrogenase in red blood cells. HP:0410184 Abnormal glucose-6-phosphate dehydrogenase level in red blood cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410184 Abnormal G6PD level in red blood cells|Abnormal G6PD level in RBCs An anomaly in the level of glucose-6-phosphate dehydrogenase in red blood cells. HP:0410183 Abnormal glucose-6-phosphate dehydrogenase level in leukocytes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410183 Abnormal G6PD level in leukocytes An anomaly in the level of glucose-6-phosphate dehydrogenase in leukocytes. HP:0410182 Decreased glucose-6-phosphate dehydrogenase level in dried blood spot biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410182 Decreased G6PD level in dried blood spot|Decreased glucose-6-phosphate dehydrogenase level in DBS A decrease in the level of glucose-6-phosphate dehydrogenase in a dried blood spot. HP:0410181 Increased glucose-6-phosphate dehydrogenase level in dried blood spot biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410181 Increased glucose-6-phosphate dehydrogenase level in DBS|Increased G6PD level in dried blood spot An increase in the level of glucose-6-phosphate dehydrogenase in a dried blood spot. HP:0410188 Decreased glucose-6-phosphate dehydrogenase level in red blood cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410188 Decreased G6PD level in RBCs|Decreased G6PD level in red blood cells A decrease in the level of glucose-6-phosphate dehydrogenase in red blood cells. HP:0410187 Decreased glucose-6-phosphate dehydrogenase level in tissue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410187 Decreased G6PD level in tissue A decrease in the level of glucose-6-phosphate dehydrogenase in tissue. HP:0410186 Increased glucose-6-phosphate dehydrogenase level in tissue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410186 Increased G6PD level in tissue An increase in the level of glucose-6-phosphate dehydrogenase in tissue. HP:0410185 Abnormal glucose-6-phosphate dehydrogenase level in tissue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410185 Abnormal G6PD level in tissue An anomaly in the level of glucose-6-phosphate dehydrogenase in tissue. HP:0410180 Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410180 Abnormal G6PD level in dried blood spot|Abnormal glucose-6-phosphate dehydrogenase level in DBS An anomaly in the level of glucose-6-phosphate dehydrogenase in a dried blood spot. HP:0410179 Decreased glucose-6-phosphate dehydrogenase level in blood biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410179 Decreased G6PD level in blood A decrease in the level of glucose-6-phosphate dehydrogenase in the blood. HP:0410178 Increased glucose-6-phosphate dehydrogenase level in blood biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410178 Increased G6PD level in blood An increase in the level of glucose-6-phosphate dehydrogenase in the blood. HP:0410173 Increased troponin I level in blood biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410173 An increased concentration of tropnin I in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction. HP:0410172 Blood xenobiotic biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410172 The presence of a xenobiotic in blood. HP:0410171 Increased cotinine level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410171 Increased concentration of cotinine in urine. HP:0410170 Hippocampal atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410170 Atrophy of the hippocampus|Degeneration of the hippocampus Partial or complete wasting (loss) of hippocampus tissue that was once present. HP:0410177 Abnormal glucose-6-phosphate dehydrogenase level in blood biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410177 Abnormal G6PD level in blood An anomaly in the level of glucose-6-phosphate dehydrogenase in the blood. HP:0410176 Abnormal glucose-6-phosphate dehydrogenase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410176 Abnormal G6PD level An anomaly in the level of glucose-6-phosphate dehydrogenase. HP:0410175 Hyperketonemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410175 Elevated circulating ketone body concentration|Ketonemia|Increased level of ketone bodies in blood An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood. HP:0410174 Increased troponin T level in blood biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410174 An increased concentration of tropnin T in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction. HP:0410195 Decreased uridine diphosphate glucose-4-epimerase level in plasma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410195 Decreased UDP-glucose 4-epimerase level in plasma A decrease in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. HP:0410194 Increased uridine diphosphate glucose-4-epimerase level in plasma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410194 Increased UDP-glucose 4-epimerase level in plasma An increase in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. HP:0410193 Abnormal uridine diphosphate glucose-4-epimerase level in plasma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410193 Abnormal UDP-glucose 4-epimerase activity level in plasma An abnormality in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. HP:0410192 Abnormal uridine diphosphate glucose-4-epimerase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410192 Abnormal UDP-glucose 4-epimerase level An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose. HP:0410199 Increased CSF urate concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410199 Increased cerebrospinal fluid urate|Elevated CSF urate concentration Increased concentration of urate in the cerebrospinal fluid. HP:0410198 Decreased uridine diphosphate glucose-4-epimerase level in red blood cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410198 Decreased UDP-glucose 4-epimerase level in red blood cells|Decreased UDP-glucose 4-epimerase level in RBCs A decrease in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. HP:0410197 Increased uridine diphosphate glucose-4-epimerase level in red blood cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410197 Increased UDP-glucose 4-epimerase level in RBCs|Increased UDP-glucose 4-epimerase level in red blood cells An increase in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. HP:0410196 Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410196 Abnormal UDP-glucose 4-epimerase level in red blood cells|Abnormal UDP-glucose 4-epimerase level in RBCs An abnormality in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. HP:0001929 Reduced factor XI activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001929 SNOMEDCT_US:49762007|UMLS:C0015523|MSH:D005173 Low factor XI activity|Factor XI deficiency Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX. HP:0001923 Reticulocytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001923 SNOMEDCT_US:46049004|UMLS:C0206160|MSH:D045262 Increased number of immature red blood cells|Increased reticulocytes|Increased reticulocyte count|Increased immature red blood cells|Polychromasia An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. HP:0001924 Sideroblastic anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001924 MSH:D000756|UMLS:C0002896|SNOMEDCT_US:41841004 Sideroblastic anaemia|Hypersideremic anemia Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining). HP:0001922 Vacuolated lymphocytes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001922 UMLS:C1836855 Enlarged lysosomal vacuoles in lymphocytes|Vacuolated blood lymphocytes The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm. HP:0001927 Acanthocytosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001927 UMLS:C0687751|SNOMEDCT_US:250249008 Acanthocytes|Red cell acanthocytosis Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars. HP:0001928 Abnormality of coagulation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001928 UMLS:C0019087|SNOMEDCT_US:64779008|MSH:D006474|MSH:D001778|SNOMEDCT_US:362970003|UMLS:C1846821|UMLS:C0005779 Coagulation abnormalities|Coagulation abnormality|Abnormal blood coagulation studies|Haemorrhagic disorders|Blood coagulation disorder An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot. HP:0001920 Renal artery stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001920 SNOMEDCT_US:302233006|UMLS:C0035067|SNOMEDCT_US:282664001|Fyler:2634|MSH:D012078 Narrowing of kidney artery The presence of stenosis of the renal artery. HP:0000609 Optic nerve hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000609 SNOMEDCT_US:95499004|UMLS:C0338502 Hypoplastic optic nerves|Underdeveloped optic nerves Underdevelopment of the optic nerve. HP:0000602 Ophthalmoplegia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000602 UMLS:C0029089|MSH:D009886|SNOMEDCT_US:16110005 Paralysis of extraocular eye movement|Eye muscle paralysis Paralysis of one or more extraocular muscles that are responsible for eye movements. HP:0001934 Persistent bleeding after trauma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001934 UMLS:C1844374 Frequent bleeding with trauma|Prolonged bleeding after minor trauma|Excessive bleeding after minor trauma HP:0001935 Microcytic anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001935 UMLS:C0085576|MSH:C562385|SNOMEDCT_US:234349007 Microcytic anaemia A kind of anemia in which the volume of the red blood cells is reduced. HP:0000601 Hypotelorism biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000601 SNOMEDCT_US:44593008|UMLS:C0424711 Decreased interpupillary distance|Closely spaced eyes|Decreased distance between eye sockets|Ocular hypotelorism|Decreased orbital separation|Abnormally close eyes|Decreased distance between eyes Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes). HP:0000603 Central scotoma biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000603 UMLS:C0152191|SNOMEDCT_US:38950008|UMLS:C4280624|MSH:D012607 Central scotomata|Central blind spot|Blind spot located at fixation point An area of depressed vision located at the point of fixation and that interferes with central vision. HP:0001933 Subcutaneous hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001933 UMLS:C0854107 Subcutaneous haemorrhage|Bleeding below the skin This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses). HP:0000606 Abnormality of the periorbital region biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000606 UMLS:C4025837 Abnormality of the region around the eye|Anomaly of the periorbital region|Abnormality of the region around the eye socket|Malformation of the periorbital region|Deformity of the periorbital region An abnormality of the region situated around the orbit of the eye. HP:0000605 Supranuclear gaze palsy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000605 UMLS:C1720037|SNOMEDCT_US:420675003 Supranuclear gaze paralysis A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. HP:0001939 Abnormality of metabolism/homeostasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001939 UMLS:C4021768 Metabolism abnormality|Laboratory abnormality HP:0000608 Macular degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000608 UMLS:C0024437|SNOMEDCT_US:422338006 Pigmented macular degeneration A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea. HP:0001937 Microangiopathic hemolytic anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001937 SNOMEDCT_US:51071000|MSH:D000743|UMLS:C0221021 Microangiopathic hemolytic anaemia HP:0000607 Periorbital wrinkles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000607 UMLS:C1844605 Wrinkles around the eyes|Periorbital rhytids|Periorbital wrinkling|Excess periorbital skin wrinkling HP:0001930 Nonspherocytic hemolytic anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001930 UMLS:C4025735 Nonspherocytic hemolytic anaemia HP:0001931 Hypochromic anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001931 MSH:D000747|UMLS:C0002884|SNOMEDCT_US:44452003 Hypochromic anaemia A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes. HP:0000600 Abnormality of the pharynx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000600 UMLS:C4025838 An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly. HP:0001909 Leukemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001909 MSH:D007938|SNOMEDCT_US:87163000|MSH:D019337|UMLS:C0023418|SNOMEDCT_US:269475001|SNOMEDCT_US:93143009|SNOMEDCT_US:129154003|UMLS:C0376545 Blood cancer|Leukaemia A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes. HP:0001907 Thromboembolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001907 UMLS:C0040038|MSH:D016769|SNOMEDCT_US:371039008|UMLS:C0085307|MSH:D013923|SNOMEDCT_US:13713005 Blood clot in blood vessel|Thromboembolic events|Thromboembolic disease|Embolism and thrombosis 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. HP:0001908 Hypoplastic anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001908 MSH:D000741|SNOMEDCT_US:167923006|SNOMEDCT_US:41614006|UMLS:C0178416 Hypoplastic anaemia Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia. HP:0001901 Polycythemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001901 SNOMEDCT_US:127062003|SNOMEDCT_US:109992005|MSH:D011086|UMLS:C0032461|UMLS:C1527405 Increased red blood cells|Polyglobulia|Erythrocytosis|Abnormally shaped erythrocytes Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal. HP:0001902 Giant platelets biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001902 UMLS:C0333864|SNOMEDCT_US:44687006 Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998). HP:0001900 Increased hemoglobin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001900 UMLS:C0549448|SNOMEDCT_US:131141003 Increased Hb|Increased haemoglobin HP:0001905 Congenital thrombocytopenia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001905 UMLS:C0272278 thrombocytopenia, congenital Thrombocytopenia with congenital onset. HP:0001903 Anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001903 UMLS:C0162119|UMLS:C0002871|MSH:D000740|SNOMEDCT_US:271737000|SNOMEDCT_US:165397008 Low number of red blood cells or hemoglobin|Decreased hemoglobin|Anaemia A reduction in erythrocytes volume or hemoglobin concentration. HP:0001904 Neutropenia in presence of anti-neutropil antibodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001904 UMLS:C0340971|SNOMEDCT_US:234425008 Autoimmune neutropenia A type of neutropenia that is observed in the presence of granulocyte-specific antibodies. HP:0001919 Acute kidney injury biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001919 SNOMEDCT_US:14669001|SNOMEDCT_US:14350001000004108|MSH:D058186|UMLS:C0022660|UMLS:C2609414 Acute kidney failure|Acute renal failure Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). HP:0001912 Abnormal basophil morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001912 UMLS:C4025736 Abnormality of basophils Any structural abnormality or abnormal count of basophils. HP:0001913 Granulocytopenia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001913 SNOMEDCT_US:17182001|UMLS:C0001824|SNOMEDCT_US:417672002|MSH:D000380 An abnormally reduced number of granulocytes in the blood. HP:0001911 Abnormal granulocyte morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001911 UMLS:C0427515|SNOMEDCT_US:250274006 Abnormality of granulocytes Any structural abnormality or abnormal count of granulocytes. HP:0001917 Renal amyloidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001917 SNOMEDCT_US:48713002|UMLS:C0268382 A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856). HP:0001915 Aplastic anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001915 UMLS:C0002874|SNOMEDCT_US:304132006|SNOMEDCT_US:306058006|MSH:D000741 Aplastic anaemia Aplastic anemia is defined as pancytopenia with a hypocellular marrow. HP:0012583 Unilateral renal hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012583 UMLS:C0431691|SNOMEDCT_US:204948009 Small kidney on one side|Underdeveloped kidney on one side One sided hypoplasia of the kidney. HP:0011252 Cryptotia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011252 UMLS:C2315717|SNOMEDCT_US:429967001 Buried ear|Hidden ear Invagination of the superior part of the auricle under a fold of temporal skin. HP:0012584 Bilateral renal hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012584 UMLS:C0431692|SNOMEDCT_US:268232000 Two sided hypoplasia of the kidney. HP:0011253 Type I cryptotia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011253 UMLS:C4023442 Type 1 cryptotia A type of cryptotia associated with reduction in size of the antihelix and superior crus. HP:0011254 Type II cryptotia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011254 UMLS:C4023441 Type 2 cryptotia A type of cryptotia associated with reduction in size of the antihelix and inferior crus that are affected. HP:0012585 Renal atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012585 UMLS:C0341698|SNOMEDCT_US:197659005 Kidney degeneration Atrophy of the kidney. HP:0012586 Bilateral renal atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012586 UMLS:C4022835 Bilateral kidney degeneration A two-sided form of atrophy of the kidney. HP:0011255 Absent crus of helix biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011255 UMLS:C4021185 Helix, crus, absent Continuum between the tragus and ascending helix, without any evidence of a posterior extension (crus) towards the concha. HP:0011256 Crus of helix connected to antihelix biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011256 UMLS:C4021184 Helix, crus, connected to antihelix Extension of the ridge of the crus helix across the ear and connection of the crus to the antihelix. HP:0012587 Macroscopic hematuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012587 UMLS:C0473237|SNOMEDCT_US:197941005 Gross hematuria|Bloody urine Hematuria that is visible upon inspection of the urine. HP:0012588 Steroid-resistant nephrotic syndrome biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012588 SNOMEDCT_US:236381000|UMLS:C0403397 A form of nephrotic syndrome that does not respond to treatment with steroid medication. HP:0011257 Serpiginous crus of helix biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011257 UMLS:C4021183 Helix, crus, serpiginous Curving course of the crus of the helix, approaching or joining the antitragus. HP:0012589 Multidrug-resistant nephrotic syndrome biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012589 UMLS:C4022834 A form of nephrotic syndrome that does not respond to any immunosuppresive treatment. HP:0011258 Tragal bridge of crus of helix biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011258 UMLS:C4021182 Helix, crus, tragal bridge The anterior origin of the crus encompasses the superior margin of the tragus, the crus overrides the upper portion of the conchal cavum and ends at the antihelix. HP:0011259 Expanded terminal portion of crus of helix biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011259 UMLS:C4021181 Helix, crus, expanded terminal portion Widening, rather than tapering, of the crus at its posterior border near the antihelix. HP:0012580 Calcium phosphate nephrolithiasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012580 UMLS:C3671880 Ca phosphate urolithiasis|Calcium phosphate urolithiasis|Ca2+ phosphate nephrolitiasis|Ca2+ phosphate urolithiasis|Ca phosphate nephrolithiasis The presence of calcium- and phosphate-containing calculi (stones) in the kidneys. HP:0011250 Bifid antitragus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011250 UMLS:C4021187 Double antitragus Double rather than single peak of the antitragus. HP:0012581 Simple renal cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012581 UMLS:C0268800|UMLS:C4022836|SNOMEDCT_US:77945009 Simple kidney cyst|Solitary renal cyst An isolated cyst of the kidney. HP:0012582 Bilateral renal dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012582 UMLS:C0431698|SNOMEDCT_US:204950001 A bilateral form of developmental dysplasia of the kidney. HP:0011251 Underdeveloped antitragus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011251 UMLS:C4021186 Small antitragus|Hypotrophic antitragus|Hypoplastic antitragus Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix. HP:0000594 Shallow anterior chamber biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000594 UMLS:C0423276|SNOMEDCT_US:246986004 Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased. HP:0000593 Abnormal anterior chamber morphology biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000593 UMLS:C3152182|SNOMEDCT_US:204142009 Anterior chamber anomalies|Ocular anterior chamber abnormality|Abnormality of the anterior chamber Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris. HP:0000598 Abnormality of the ear biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000598 UMLS:C0266589|SNOMEDCT_US:275259005 Ear anomaly|Abnormality of the ear An abnormality of the ear. HP:0000597 Ophthalmoparesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000597 UMLS:C0751401|MSH:D009886 Extraocular muscle paralysis|Weakness of extraocular eye movement|Weakness of muscles controlling eye movement|Extraocular muscle palsy Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement. HP:0000599 Abnormality of the frontal hairline biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000599 UMLS:C4025839 Abnormality of hairline at front of head|Abnormality of the frontal hairline An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not. HP:0000590 Progressive external ophthalmoplegia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000590 SNOMEDCT_US:46252003|MSH:D017246|UMLS:C0162674 External ophthalmoplegia, progressive Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades. HP:0000592 Blue sclerae biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000592 SNOMEDCT_US:204164000|UMLS:C0542514 Blue sclera|Blue outer white part of eyeball|Bluish sclerae|Whites of eyes are a bluish-gray color An abnormal bluish coloration of the sclera. HP:0000591 Abnormal sclera morphology biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000591 UMLS:C4025840 Abnormality of the sclera|Abnormality of the outer white part of eyeball An abnormality of the sclera. HP:0011241 Serpiginous stem of antihelix biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011241 UMLS:C4021193 Antihelix, stem, serpiginous Posterior curving of the antihelix from its origin at the antitragus, traveling initially almost perpendicular to the descending helix and obscuring some of the concha. HP:0012572 Ureter duplex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012572 UMLS:C0221365|ICD-10:Q62.5|SNOMEDCT_US:49496001 A complete duplication of the ureter, where the duplicated ureters have separate insertions into the bladder. HP:0011242 Underdeveloped stem of antihelix biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011242 UMLS:C4021192 Antihelix, stem, underdeveloped Decreased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of a normal helix. HP:0012573 Global proximal tubulopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012573 UMLS:C4022839 A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis. HP:0011243 Abnormality of inferior crus of antihelix biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011243 UMLS:C4021191 Abnormality of anterior 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. HP:0012574 Mesangial hypercellularity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012574 SNOMEDCT_US:125510009|UMLS:C0545017 Mesangial proliferation 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. HP:0011244 Abnormality of stem of antihelix biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011244 UMLS:C4023445 An abnormality of the stem of the antihelix, which is the part below the bifurcation of the antihelix into the inferior and superior crura. HP:0012575 Abnormal nephron morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012575 UMLS:C4022838 Abnormality of the nephron A structural anomaly of the nephron. HP:0011245 Abnormality of superior crus of antihelix biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011245 UMLS:C4021190 Abnormality of posterior crus of antihelix An abnormality of the superior crus of the antihelix is the upper cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa. HP:0012576 Glomerular C3 deposition biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012576 UMLS:C4022837 C3 nephropathy|Renal C3 deposition The presence of complement 3 deposits in the glomerulus. HP:0012577 Thin glomerular basement membrane biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012577 UMLS:C3276821 Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs. HP:0011246 Underdeveloped superior crus of antihelix biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011246 UMLS:C4021189 Hypoplastic superior crus of antihelix|Hypotrophic superior crus of antihelix Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem. HP:0011247 Prominent superior crus of antihelix biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011247 UMLS:C4021188 Hyperplastic superior crus of antihelix|Hypertrophic superior crus of antihelix Increased protrusion of the superior crus relative to the prominence of a normal antihelix stem. HP:0012578 Membranous nephropathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012578 MSH:D015433|UMLS:C0017665|SNOMEDCT_US:77182004 Membranous glomerulonephritis A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space. HP:0012579 Minimal change glomerulonephritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012579 UMLS:C0027721|MSH:D009402|SNOMEDCT_US:44785005 Minimal change nephropathy|Minimal change disease The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria. OBO:hp#plural_form plural form biolink:OntologyClass hp http://purl.obolibrary.org/obo/hp#plural_form HP:0011248 Everted antitragus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011248 UMLS:C4023444 Positioning of the antitragus at an angle perpendicular to the plane of the ear (oriented away from the plane of the ear). HP:0012570 Synovial sarcoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012570 SNOMEDCT_US:63211008|SNOMEDCT_US:302851001|UMLS:C0039101|MSH:D013584 Malignant synovioma A type of mesenchymal tissue cell tumor that exhibits epithelial differentiation, which most frequently arises in the extremities. HP:0012571 Ureter fissus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012571 ICD-10:Q62.5|UMLS:C4021079 Partially duplicated ureter A partial duplication of the ureter where the duplicated ureters fuse to a single ureter before their insertion into the bladder. HP:0011240 Prominent stem of antihelix biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011240 UMLS:C4020910 Hypertrophic antihelix stem|Hyperplastic antihelix stem Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix. HP:0011249 Absent antitragus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011249 UMLS:C4023443 Absence of the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix. HP:0012561 Unicuspid aortic valve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012561 UMLS:C0345001|SNOMEDCT_US:253610004 The presence of an aortic valve with one instead of the normal three cusps (flaps). HP:0011230 Laterally extended eyebrow biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011230 UMLS:C4023451 Laterally elongated eyebrow|Increased lateral length of eyebrow|Laterally extended eyebrows An eyebrow that extends laterally beyond the orbital rim rather than turning gently downward at that location. HP:0012562 Premature epimetaphyseal fusion in hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012562 UMLS:C4022844 Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the hand, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. HP:0011231 Prominent eyelashes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011231 UMLS:C1835802|UMLS:C4023450 Prominent eyelashes|Thick eyelashes Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly. HP:0012563 Premature epimetaphyseal fusion in foot biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012563 UMLS:C4022843 Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the foot, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. HP:0011232 Infra-orbital fold biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011232 UMLS:C4023449 Infraorbital fold|Dennie-Morgan fold Elevated ridge(s) of skin starting well below the medial aspect of the lower lid that curves gradually upward toward and/or across the nasal bridge. HP:0011233 Antihelical shelf biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011233 UMLS:C4021197 Conchal shelf Antihelix protrusion directed more anteriorly than laterally, forming a shelf overlying the posterior concha. HP:0012564 Premature epimetaphyseal fusion in tibia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012564 UMLS:C4022842 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. HP:0012565 Premature epimetaphyseal fusion in fibula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012565 UMLS:C4021838 Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the fibula, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. HP:0011234 Absent antihelix biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011234 UMLS:C4023448 No discernible ridge between concha and triangular fossa and helix. HP:0012566 Premature epimetaphyseal fusion in radius biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012566 UMLS:C4022841 Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the radius, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. HP:0011235 Additional crus of antihelix biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011235 UMLS:C4023447 Supernumerary ridge or crus of the ear arising from the antihelix. HP:0011236 Angulated antihelix biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011236 UMLS:C4023446 Antihelical ridge that forms an acute angle between the antitragus and its bifurcation (stem) instead of a gently curving arc. HP:0012567 Premature epimetaphyseal fusion in ulna biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012567 UMLS:C4022840 Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the ulna, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. HP:0011237 Broad inferior crus of antihelix biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011237 UMLS:C4021196 Antihelix, inferior crus, broad Increased width of the inferred cross-section of the inferior crus. HP:0012568 Lower eyelid edema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012568 UMLS:C2025810|UMLS:C3839997|SNOMEDCT_US:700327003 Puffiness of lower eyelid|Fullness of lower eyelid|Swelling of lower eyelid|Lower eyelid oedema|Cellulitis of lower eyelid Edema in the region of the Lower eyelid. HP:0000579 Nasolacrimal duct obstruction biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000579 SNOMEDCT_US:416920000|SNOMEDCT_US:246865000|UMLS:C0022906|SNOMEDCT_US:314022009|UMLS:C1281931|MSH:D007767|SNOMEDCT_US:231841004 Blocked tear duct|Lacrimal duct obstruction Blockage of the lacrimal duct. HP:0012560 Decreased T3/T4 ratio biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012560 UMLS:C4022845 A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is lower than normal. HP:0000572 Visual loss biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000572 SNOMEDCT_US:7973008|UMLS:C3665386 Loss of vision|Visual loss|Vision loss Loss of visual acuity (implying that vision was better at a certain timepoint in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). HP:0000571 Hypometric saccades biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000571 UMLS:C0423082|SNOMEDCT_US:246768008 Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object. HP:0000574 Thick eyebrow biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000574 UMLS:C1853487 Hypertrichosis of the eyebrows|Bushy eyebrows|Thick eyebrows|Hypertrichosis of the eyebrow|Dense eyebrow|Prominent eyebrows|Heavy eyebrows|Thick eyebrow Increased density/number and/or increased diameter of eyebrow hairs. HP:0000573 Retinal hemorrhage biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000573 MSH:D012166|SNOMEDCT_US:28998008|UMLS:C0035317 Retinal haemorrhage|Retinal bleeding|Retinal hemorrhages Hemorrhage occurring within the retina. HP:0000576 Centrocecal scotoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000576 UMLS:C0271196|MSH:D012607|SNOMEDCT_US:33014001 A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape. HP:0000575 Scotoma biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000575 SNOMEDCT_US:81016008|MSH:D009898|SNOMEDCT_US:23388006|UMLS:C0036454|MSH:D012607|UMLS:C0344233 Blind spot 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. HP:0000577 Exotropia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000577 MSH:D005099|SNOMEDCT_US:399054005|SNOMEDCT_US:399252000|UMLS:C0015310 Outward facing eye ball A form of strabismus with one or both eyes deviated outward. HP:0012569 Delayed menarche biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012569 UMLS:C0949173 Delayed start of first period First period after the age of 15 years. HP:0011238 Prominent inferior crus of antihelix biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011238 UMLS:C4021195 Hypertrophic inferior crus of antihelix|Hyperplastic inferior crus of antihelix|Antihelix, inferior crus, prominent Increased protrusion of the inferior crus relative to the prominence of the antihelix stem. HP:0011239 Underdeveloped inferior crus of antihelix biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011239 UMLS:C4021194 Hypotrophic inferior crus of antihelix|Hypoplastic inferior crus of antihelix|Antihelix, inferior crus, underdeveloped Decreased protrusion of the inferior crus relative to the prominence of the antihelix stem. HP:0000570 Abnormal saccadic eye movements biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000570 UMLS:C1842584|UMLS:C4025841 Impaired saccades|Abnormality of saccadic eye movements An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements. HP:0012550 Colonic varices biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012550 UMLS:C4022853 The presence of varices (enlarged and convoluted blood vessels) in the colon. HP:0011220 Prominent forehead biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011220 UMLS:C1867446|UMLS:C1837260 Protruding forehead|Prominence of frontal region|Bulging forehead|Prominent forehead|Pronounced forehead Forward prominence of the entire forehead, due to protrusion of the frontal bone. HP:0012551 Absent neutrophil specific granules biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012551 UMLS:C4022852 Lack of specific granules in neutrophils. HP:0012552 Increased neutrophil nuclear projections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012552 UMLS:C4022851 Presence of an elevated number of projections from nuclei of neutrophils. These projections can have the shape of hooks, tags, or clubs. HP:0011221 Vertical forehead creases biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011221 UMLS:C4023456 Vertical forehead wrinkles|Frontal creases of face|Vertical forehead creases|Vertical forehead rhytids Vertical soft tissue creases in the midline of the forehead, often extending from the hairline to the brow, and seen with facial expression or when the face is at rest. HP:0011222 Depressed glabella biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011222 UMLS:C4023455 Hypoplasia of glabella|Flat glabella|Flat area between the eyebrows|Deficient area between the eyebrows|Deficiency of glabella|Concave glabella Posterior positioning of the glabella, i.e., of the midline forehead between the supraorbital ridges. HP:0012553 Hypoplastic thumbnail biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012553 UMLS:C4022850 Underdeveloped thumbnail|Small thumbnail A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail. HP:0011223 Metopic depression biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011223 UMLS:C4023454 Depression of frontal cranial suture|Depression of metopic cranial suture|Frontal suture depression Linear vertical groove in the midline of the forehead, extending from hairline to glabella. HP:0012554 Absent thumbnail biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012554 UMLS:C4022849 Absence of thumb nail. HP:0012555 Absent nail of hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012555 UMLS:C4021081 Absent big toe nail|Absent nail of big toe Absent nail of big toe. HP:0011224 Ablepharon biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011224 SNOMEDCT_US:708541009|UMLS:C0266574|SNOMEDCT_US:13401001|UMLS:C4020757 Aplasia of the eyelids|Ablepharon of eyelid|Absent eyelids|Agenesis of eyelids|Missing eyelids Absent eyelids. HP:0011225 Epiblepharon biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011225 UMLS:C0344503|SNOMEDCT_US:253212001 Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva. HP:0012556 Hyperbeta-alaninemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012556 UMLS:C4021080 Hyperbetaalaninemia|High blood beta-alanine levels|Hyperbeta-alaninemia Increased concentration of beta-alanine in the blood. HP:0012557 EEG with centrotemporal focal spike waves biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012557 UMLS:C4022848 EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. HP:0011226 Aplasia/Hypoplasia of the eyelid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011226 UMLS:C4023453 Failure of development of eyelid|Hypotrophic eyelid Absence or underdevelopment of the eyelid. HP:0000582 Upslanted palpebral fissure biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000582 UMLS:C0423109|SNOMEDCT_US:246799009 Mongoloid slant|Upward slanting of the opening between the eyelids|Upslanting palpebral fissures|Upslanted palpebral fissures|Upward slanted palpebral fissures|Upward slanting palpebral fissures|Upward slanting of palpebral fissures The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age. HP:0000585 Band keratopathy biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000585 SNOMEDCT_US:35055000|UMLS:C0155120|MSH:C562399 Calcific band keratopathy An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation. HP:0000584 Punctate corneal epithelial erosions biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000584 UMLS:C1832170 HP:0000587 Abnormality of the optic nerve biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000587 UMLS:C0029131 optic nerve abnormalities|Optic nerve issue Abnormality of the optic nerve. HP:0000586 Shallow orbits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000586 UMLS:C1865244 Decreased depth of orbits|Shallow eye sockets|Small shallow orbits|Decreased depth of eye sockets Reduced depth of the orbits associated with prominent-appearing ocular globes. HP:0000589 Coloboma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000589 MSH:D003103|SNOMEDCT_US:92828000|SNOMEDCT_US:93390002|UMLS:C0009363|Fyler:4311 Notched pupil|Ocular colobomas|Ocular coloboma A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa. HP:0000588 Optic nerve coloboma biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000588 MSH:C535970|SNOMEDCT_US:44295002|UMLS:C0155299|SNOMEDCT_US:17541006 Coloboma of optic nerve|Optic disk coloboma A cleft of the optic nerve that extends inferiorly. HP:0012558 Abnormal T3/T4 ratio biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012558 UMLS:C4022847 A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal. HP:0011227 Elevated C-reactive protein level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011227 UMLS:C4023452|UMLS:C0742906 Elevated CRP An abnormal elevation of the C-reactive protein level in serum. HP:0011228 Horizontal eyebrow biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011228 UMLS:C3277019 Lack of eyebrow arch|Horizontal eyebrow|Lack of eyebrow curvature|Straight eyebrow|Flat eyebrow|Straight eyebrows An eyebrow that extends straight across the brow, without curve. HP:0012559 Increased T3/T4 ratio biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012559 UMLS:C4022846 A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is higher than normal. HP:0011229 Broad eyebrow biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011229 UMLS:C1856121 Increased vertical thickness of eyebrow|Flared eyebrow|Broad eyebrow|Broad eyebrows|Increased vertical height of eyebrow|Increased vertical width of eyebrow|Flared eyebrows Regional increase in the width (height) of the eyebrow. HP:0000581 Blepharophimosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000581 UMLS:C0005744|MSH:D016569 Narrow opening between the eyelids|Decreased width of palpebral fissure A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. HP:0000580 Pigmentary retinopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000580 UMLS:C0035334|MSH:D012174|SNOMEDCT_US:28835009 Retinal pigmentary degeneration|Retinal pigment clumping|Retinal pigmentary clumping|Pigmentary retinal deposits 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. HP:0011296 EEG with temporal sharp waves biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011296 UMLS:C2206519 EEG with sharp waves in the temporal region, i.e., sharp transient waves of a duration between 80 and 200 msec. HP:0011297 Abnormal digit morphology biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011297 UMLS:C3550704 Abnormality of digit|Digital anomalies|Abnormality of fingers or toes A morphological abnormality of a digit, i.e., of a finger or toe. HP:0011298 Prominent digit pad biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011298 UMLS:C4023424 Prominent digit pad A soft tissue prominence of the ventral aspects of the fingertips or toe tips. HP:0011299 Partial absence of finger biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011299 UMLS:C4023423 Partial absence of finger The absence of a phalangeal segment of a finger. HP:0011290 EEG with frontal sharp slow waves biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011290 UMLS:C4023426 EEG with sharp slow waves in the frontal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. HP:0011291 EEG with central sharp slow waves biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011291 UMLS:C4023425 EEG with sharp slow waves in the central region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. HP:0011292 EEG with occipital sharp waves biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011292 UMLS:C2206521 EEG with sharp waves in the occipital region, i.e., sharp transient waves of a duration between 80 and 200 msec. HP:0011293 EEG with central sharp waves biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011293 UMLS:C2207327 EEG with sharp waves in the central region, i.e., sharp transient waves of a duration between 80 and 200 msec. HP:0011294 EEG with frontal sharp waves biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011294 UMLS:C2206518 EEG with sharp waves in the frontal region, i.e., sharp transient waves of a duration between 80 and 200 msec. HP:0011295 EEG with parietal sharp waves biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011295 UMLS:C2206520 EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec. HP:0011285 Long-segment aganglionic megacolon biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011285 UMLS:C4023430 A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid. HP:0011286 Total colonic aganglionosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011286 SNOMEDCT_US:253780003|MSH:D006627|UMLS:C0085758|SNOMEDCT_US:360441005 A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon. HP:0011287 EEG with occipital sharp slow waves biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011287 UMLS:C4023429 EEG with sharp slow waves in the occipital region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. HP:0011288 EEG with parietal sharp slow waves biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011288 UMLS:C4023428 EEG with sharp slow waves in the parietal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. HP:0011289 EEG with temporal sharp slow waves biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011289 UMLS:C4023427 EEG with sharp slow waves in the temporal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. HP:0011280 Abnormality of urine calcium concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011280 UMLS:C4023434 Abnormality of urine Ca2+ concentration|Abnormality of urine Ca concentration An abnormality of calcium concentration in the urine. HP:0011281 Abnormality of urine catecholamine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011281 UMLS:C4023433|MP:0011478 An abnormal level of urinary catecholamine concentration. HP:0011282 Abnormality of hindbrain morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011282 UMLS:C4021170 Abnormality of the hindbrain|Abnormal shape of hindbrain An abnormality of the hindbrain, also known as the rhombencephalon. HP:0011283 Abnormality of the metencephalon biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011283 UMLS:C4023432 An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum. HP:0011284 Short-segment aganglionic megacolon biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011284 UMLS:C4023431 A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid. HP:0011274 Recurrent mycobacterial infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011274 UMLS:C4023438 Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection. HP:0011275 Recurrent mycobacterium avium complex infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011275 UMLS:C1737260 Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection. HP:0011276 Vascular skin abnormality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011276 UMLS:C0162819|MSH:D017445|SNOMEDCT_US:11263005|UMLS:C1842892 Vascular abnormalities restricted to skin|Skin vascular malformation HP:0011277 Abnormality of the urinary system physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011277 UMLS:C4023437 HP:0011278 Intrapulmonary sequestration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011278 UMLS:C4023436 A type of pulmonary sequestration that occurs within the visceral pleura of normal lung tissue, usually without communication with the tracheobronchial tree. HP:0011279 Abnormality of urine bicarbonate concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011279 UMLS:C4023435 Abnormality of urine HCO3 concentration An abnormality of the concentration of hydrogencarbonate in the urine. HP:0011270 Duplicated tragus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011270 UMLS:C4021172 Accesory tragus|Tragus, duplicated A complete or partial duplication of the tragus; expected to lie anterior to the normal tragus. HP:0011271 Prominent tragus biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011271 UMLS:C4021171 Large tragus|Hypertrophic tragus|Hyperplastic tragus|Enlarged tragus|Tragus, prominent Increase posterolateral protrusion of the tragus. HP:0011272 Underdeveloped tragus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011272 UMLS:C4013429 Hypotrophic tragus|Small tragus|Hypoplastic tragus Decreased posterolateral protrusion of the tragus. HP:0011273 Anisocytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011273 UMLS:C0221278|SNOMEDCT_US:165475005|SNOMEDCT_US:57241006 Unequal size of red blood cells Abnormally increased variability in the size of erythrocytes. HP:0011263 Forward facing earlobe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011263 UMLS:C4021177 Lobe, forward facing|Forward facing earlobe Positioning of the anterior surface of the ear lobe in a more coronal plane than the remainder of the ear. HP:0012594 Moderate albuminuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012594 SNOMEDCT_US:312975006|UMLS:C1654921|UMLS:C0730345 Microalbuminuria|High urine albumin levels The presence of moderately increased concentrations of albumin in the urine, defined as and albumin-creatinine ratio (ACR) of 30 to 299 mg/gm (3.4 to 34 mg/mmol). HP:0011264 Discontinuous ascending root of helix biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011264 UMLS:C4021176 Helix, discontinuous ascending root Interruption between the ascending helix and the crus helix, allowing the ascending helix to be attached directly to the mastoid. HP:0012595 Mild proteinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012595 UMLS:C4022832 Mildly increased levels of protein in the urine (150-500 mg per day in adults). HP:0011265 Cleft earlobe biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011265 UMLS:C4023440 Cleft earlobe Discontinuity in the convexity of the inferior margin of the lobe. HP:0012596 Moderate proteinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012596 UMLS:C4022831 Moderately increased levels of protein in the urine (500-1000 mg per day in adults). HP:0011266 Microtia, first degree biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011266 UMLS:C4021175 First-degree microtia Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean. HP:0012597 Heavy proteinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012597 UMLS:C4022830 Severly high blood protein levels Severely increased levels of protein in the urine (1000-3000 mg per day in adults). HP:0012598 Abnormal urine potassium concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012598 UMLS:C4022829 Abnormal urine K concentration An abnormal concentration of potassium(1+) in the urine. HP:0011267 Microtia, third degree biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011267 UMLS:C4021174|UMLS:C4280331 Third-degree microtia|Abnormal shape/structure of ear Presence of some auricular structures, but none of these structures conform to recognized ear components. HP:0012599 Abnormal urine phosphate concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012599 UMLS:C4022828 An abnormal phosphate concentration in the urine. HP:0011268 Absent tragus biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011268 UMLS:C4023439 Lack of convexity or prominence of the contour of the ridge between the bottom of the incisura and the confluence of the ascending helix and crus helix. HP:0011269 Bifid tragus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011269 UMLS:C4021173 Tragus, bifid|Notched tragus Increased height of the tragal ridge with a shallow indentation at the apex, giving the appearance of a double peak. HP:0012590 Abnormal urine output biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012590 UMLS:C3693260 An abnormal amount of urine production. HP:0012591 Abnormal urinary electrolyte concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012591 UMLS:C4022833 Urinary electrolyte imbalance An abnormality in the concentration of electrolytes in the urine. HP:0011260 Darwin notch of helix biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011260 UMLS:C4021180 Helix, Darwin notch Small defect of the helical fold that lies at the junction of the superior and descending portions of the helix. HP:0012592 Albuminuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012592 UMLS:C0001925|SNOMEDCT_US:274769005|MSH:D000419 Increased concentration of albumin in the urine. HP:0011261 Darwin tubercle of helix biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011261 UMLS:C4021179 Helix, Darwin tubercle Small expansion of the helical fold at the junction of the superior and descending portions of the helix. HP:0011262 Crimped helix biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011262 UMLS:C4021178 Indented helix|Helix, crimped Linear, circumferential indentation in the convexity of the outer surface of the helix. HP:0012593 Nephrotic range proteinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012593 UMLS:C0445118|SNOMEDCT_US:264867001 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. HP:0012740 Papilloma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012740 SNOMEDCT_US:711329002|UMLS:C0030354|MSH:D010212|SNOMEDCT_US:23730008 A tumor of the skin or mucous membrane with finger-like projections. HP:0011410 Caesarian section biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011410 UMLS:C1384674|SNOMEDCT_US:200144004 Caesarian section Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy). HP:0012741 Unilateral cryptorchidism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012741 SNOMEDCT_US:268227001|UMLS:C0431664|MSH:D003456 Cryptorchidism, unilateral Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. HP:0012742 Thin fingernail biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012742 UMLS:C4022750 Thin fingernail Fingernail that appears thin when viewed on end. HP:0011411 Forceps delivery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011411 UMLS:C0341808 Forceps delivery HP:0011412 Ventouse delivery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011412 SNOMEDCT_US:61586001|UMLS:C0042225|UMLS:C2825567|MSH:D014620|UMLS:C1456852|SNOMEDCT_US:10761101000119105 Vacuum extraction|Vacuum-assisted vaginal delivery Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately. HP:0012743 Abdominal obesity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012743 MSH:D056128|SNOMEDCT_US:248311001|UMLS:C0311277 Central obesity|Abdominal obesity Excessive fat around the stomach and abdomen. HP:0012744 Femoral aplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012744 SNOMEDCT_US:47276000|UMLS:C0265629 Aplasia of the femur|Absent femur|Absent thighbone Failure of the femur to develop. HP:0011413 Shoulder dystocia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011413 SNOMEDCT_US:89700002|UMLS:C0269825 Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex. HP:0000756 Agoraphobia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000756 SNOMEDCT_US:70691001|UMLS:C0001818|MSH:D000379|SNOMEDCT_US:247830007 Fear of open spaces A type of anxiety disorder characterized by avoidance of public places, especially where crowds gather. HP:0000758 Impaired use of nonverbal behaviors biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000758 UMLS:C4021798 Impaired use of nonverbal behaviours|Impaired use of nonverbal behaviors Reduced ability to use nonverbal behavior for communication, such as eye-to-eye gaze, facial expression, body posture, and gestures. HP:0000757 Lack of insight biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000757 SNOMEDCT_US:24340004|UMLS:C0233824 Lack of insight HP:0000759 Abnormal peripheral nervous system morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000759 UMLS:C0031117|SNOMEDCT_US:42658009|MSH:D010523|UMLS:C4025831|SNOMEDCT_US:302226006 Abnormal peripheral nervous system structure|Peripheral nervous system disease 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). HP:0410225 Increased anti-drug IgE antibody level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410225 Increased level of anti-drug IgE antibody Increased level of IgE antibody against a drug or class of drugs, such as antibiotics. HP:0410224 Increased anti-bacteria IgE antibody level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410224 Increased level of anti-bacteria IgE antibody Increased level of IgE antibody against bacteria. HP:0410223 Increased anti-dust mite IgE antibody level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410223 Increased level of anti-dust mite IgE antibody Increased level of IgE antibody against dust mites, such as house dust mites. HP:0000750 Delayed speech and language development biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000750 UMLS:C0233715|UMLS:C0023012|SNOMEDCT_US:229721007|SNOMEDCT_US:62415009|UMLS:C0454644|SNOMEDCT_US:162294008|SNOMEDCT_US:29164008|UMLS:C0241210|MSH:D007805 Impaired speech development|Delayed speech and language development|Language delay|Deficiency of speech development|Poor speech acquisition|Delayed speech development|Impaired speech and language development|Delayed speech|Speech and language delay|Speech difficulties|Speech and language difficulties|Language delayed|Language development deficit|Poor speech development|Delayed speech acquisition|Delayed language development|Speech delay|Poor language development|Late-onset speech development A degree of language development that is significantly below the norm for a child of a specified age. HP:0410222 Increased anti-seafood IgE antibody level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410222 Increased level of anti-seafood IgE antibody Increased level of IgE antibody against seafood, including fish, shrimp, lobster, crab, squid and abalone. HP:0000752 Hyperactivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000752 SNOMEDCT_US:44548000|UMLS:C0424295|MSH:D006948 Hyperactive behavior|More active than typical Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate. HP:0410229 Increased anti-gluten IgE antibody level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410229 Increased level of anti-gluten IgE antibody Increased level of IgE antibody against gluten, a protein found in wheat, barley, and rye. HP:0410228 Increased anti-plant based food allergen IgE antibody level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410228 Increased level of anti-plant based food allergen IgE antibody Increased level of IgE antibody against a plant based food allergen, including vegetables and fruits. HP:0000751 Personality changes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000751 SNOMEDCT_US:102943000|UMLS:C0240735|SNOMEDCT_US:192073007 Personality changes|Personality change An abnormal shift in patterns of thinking, acting, or feeling. HP:0410227 Increased anti-food allergen IgE antibody level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410227 Increased level of anti-food allergen IgE antibody Increased level of IgE antibody against proteins found in foods, such as milk, egg, soy, wheat, peanut, treenut, fish, and shellfish. HP:0410226 Increased anti-feather IgE antibody level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410226 Increased level of IgE antibody against feathers, which could be indicative of an allergy against feathers themselves, or mite allergens present in feathers. HP:0000753 Autism with high cognitive abilities biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000753 UMLS:C4025832 HP:0012745 Short palpebral fissure biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0012745 UMLS:C0423112|SNOMEDCT_US:246802000 Decreased height of palpebral fissure|Short palpebral fissures|Short opening between the eyelids 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. HP:0011414 Hydropic placenta biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011414 SNOMEDCT_US:75094005|UMLS:C0270254 Hydrops of the placenta An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement. HP:0012746 Thin toenail biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012746 UMLS:C3554113 Thin toenail|Thin toenails Toenail that appears thin when viewed on end. HP:0011415 Calcified placenta biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011415 UMLS:C0426234|SNOMEDCT_US:249174002 HP:0012747 Abnormal brainstem MRI signal intensity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012747 UMLS:C4022749 A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem. HP:0011416 Placental infarction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011416 UMLS:C0554393|SNOMEDCT_US:268585006 Placental thromboembolism HP:0011417 Long umbilical cord biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011417 UMLS:C0405028|SNOMEDCT_US:237261008 Long umbilical cord Increased length of the umbilical cord. HP:0012748 Focal T2 hyperintense brainstem lesion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012748 UMLS:C4022748 A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem. HP:0410221 Increased anti-animal protein IgE antibody level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410221 Increased level of anti-animal protein IgE antibody Increased level of IgE antibody against animal proteins, such as albumins that are present in animal hair, dander, shed skin, saliva and urine. HP:0012749 Focal T2 hypointense brainstem lesion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012749 UMLS:C4022747 A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hypointensity affecting a particular region of the brainstem. HP:0011418 Abnormal insertion of umbilical cord biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011418 SNOMEDCT_US:79668009|UMLS:C0269852|MSH:D055949 Vasa previa HP:0011419 Placental abruption biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011419 SNOMEDCT_US:405736009|SNOMEDCT_US:415105001|MSH:D000037|UMLS:C0000832 Abruptio placentae Separation of the placenta from the uterus wall before delivery. HP:0410220 Increased anti-dairy protein IgE antibody level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410220 Increased anti-dairy IgE antibody level Increased level of IgE antibody against dairy proteins, including casein, alpha-lactalbumin, beta-lactoglobulin or bovine serum albumin contained in cow, sheep or goat milk and milk products. HP:0012730 Aglossia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012730 UMLS:C0158663|SNOMEDCT_US:74788000 Failure of development of tongue|Missing tongue|Absence of tongue Absence of the tongue owing to a developmental abnormality. HP:0011400 Abnormal CNS myelination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011400 UMLS:C4021152 Abnormal formation of myelin sheaths An abnormality of myelination of nerves in the central nervous system. HP:0012731 Ectopic anterior pituitary gland biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012731 UMLS:C4022751 Abnormal anatomic location of the anterior pituitary gland. HP:0011401 Delayed peripheral myelination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011401 UMLS:C4023374 Delayed myelination in the peripheral nervous system. HP:0012732 Anorectal anomaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012732 UMLS:C3495676|MSH:D000071056|SNOMEDCT_US:33225004 An abnormality of the anus or rectum. HP:0011402 Demyelinating sensory neuropathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011402 UMLS:C4023373 Demyelination of peripheral sensory nerves. HP:0012733 Macule biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012733 UMLS:C0332573|SNOMEDCT_US:112629002 Flat, discolored area of skin A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin. HP:0000767 Pectus excavatum biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000767 SNOMEDCT_US:391987005|UMLS:C2051831 Funnel chest A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. HP:0000766 Abnormal sternum morphology biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000766 UMLS:C1860493 Pectus excavatum or carinatum|Pectus deformities|Sternal anomalies|Pectus carinatum or pectus excavatum|Pectus excavatum or pectus carinatum|Pectus deformity|Pectus excavatum/carinatum|Abnormality of the sternum An anomaly of the sternum, also known as the breastbone. HP:0000769 Abnormality of the breast biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000769 UMLS:C4025829 Abnormality of the breast An abnormality of the breast. HP:0000768 Pectus carinatum biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000768 UMLS:C0158731|MSH:D066166|SNOMEDCT_US:205101001 Pigeon chest A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. HP:0410219 Hypoplasia of mandible relative to maxilla biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410219 Disorder of mandibular and maxillary dental arch relationship Abnormally small dimension of the mandible (lower jaw) relative to the maxilla (upper jaw). HP:0410214 Hypercapnia in cord blood biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410214 High cord blood carbon dioxide level Abnormally elevated blood carbon dioxide (CO2) level in the cord blood. HP:0410213 Hypoxemia in cord blood biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410213 Low cord blood oxygen level An abnormally low level of blood oxygen in the cord blood. HP:0410212 Hyperoxemia in cord blood biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410212 High cord blood oxygen level An abnormally high level of blood oxygen in the cord blood. HP:0410211 Abnormal blood gas level in cord blood biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410211 HP:0000763 Sensory neuropathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000763 SNOMEDCT_US:95662005|UMLS:C0151313 Peripheral sensory neuropathy|Damage to nerves that sense feeling Peripheral neuropathy affecting the sensory nerves. HP:0410218 Hypoplasia of maxilla relative to mandible biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410218 Disorder of maxillary and mandibular dental arch relationship Abnormally small dimension of the maxilla (upper jaw) relative to the mandible (lower jaw). HP:0000762 Decreased nerve conduction velocity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000762 UMLS:C1857640 Delayed nerve conduction velocity|Slowed nerve conduction velocities|Slow nerve conduction velocity|Reduced nerve conduction velocities|Decreased nerve conduction velocities|Decreased NCV A reduction in the speed at which electrical signals propagate along the axon of a neuron. HP:0410217 Reduced blood 5-methyltetrahydrofolate level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410217 Reduced serum methylfolate Level A decreased concentration of 5-methyltetrahydrofolate in the blood. HP:0410216 Abnormal blood 5-methyltetrahydrofolate level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410216 Abnormal serum methylfolate Level An abnormal concentration of 5-methyltetrahydrofolate in the blood. HP:0000765 Abnormal thorax morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000765 UMLS:C4021797 Abnormality of the chest|Abnormality of the thorax|Structural abnormality of the chest wall Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). HP:0410215 Hypocapnia in cord blood biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410215 Low cord blood carbon dioxide level Abnormally decreased blood carbon dioxide (CO2) level in the cord blood. HP:0000764 Peripheral axonal degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000764 UMLS:C4025830 Progressive deterioration of peripheral axons. HP:0012734 Ketotic hypoglycemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012734 UMLS:C0271713|SNOMEDCT_US:20825002 Ketotic low blood sugar Low blood glucose is accompanied by elevated levels of ketone bodies in the body. HP:0011403 Abnormal umbilical cord blood vessels biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011403 UMLS:C4023372 HP:0012735 Cough biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012735 SNOMEDCT_US:49727002|UMLS:C0010200|SNOMEDCT_US:272039006|MSH:D003371|SNOMEDCT_US:263731006 Coughing|Cough A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. HP:0011404 Lethal short-trunk short stature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011404 UMLS:C4021151 Lethal short-trunk dwarfism A type of disproportionate short stature characterized by a short trunk but a average-sized limbs that is lethal at birth. HP:0011405 Childhood onset short-limb short stature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011405 UMLS:C1867487 Short-limb dwarfism identifiable during childhood HP:0012736 Profound global developmental delay biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012736 UMLS:C1855773|UMLS:C3553450 Global developmental delay, profound|Psychomotor retardation, profound A profound delay in the achievement of motor or mental milestones in the domains of development of a child. HP:0011406 Infancy onset short-trunk short stature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011406 UMLS:C1846061 Short-trunk dwarfism, identifiable in infancy A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy. HP:0012737 Small intestinal polyp biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012737 SNOMEDCT_US:399723004|UMLS:C1302645 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. HP:0011407 Proportionate tall stature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011407 UMLS:C4023371 HP:0410210 Abnormal cord blood measurement biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410210 An abnormality in any umbilical cord measurement performed after birth, such as the blood gas level. HP:0012738 Agenesis of canine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012738 UMLS:C4280311|UMLS:C4021072 Absent canines|Failure of development of canine|Failure of development of eye tooth|Absence of eye tooth|Missing eye tooth|Absence of canine|Missing canine Agenesis of canine tooth. HP:0011408 Moderate intrauterine growth retardation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011408 UMLS:C4023370 Intrauterine growth retardation that is at least 3 standard deviations (SD) below average, but not as low as 4 SD, corrected for sex and gestational age. HP:0012739 Agenesis of the small intestine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012739 UMLS:C4021071 Small bowel agenesis|Undeveloped small intestine Failure to develop of the small intestine. HP:0011409 Abnormal placental membrane morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011409 UMLS:C4023369 Abnormality of placental membranes 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. HP:0012720 Neoplasm of the nose biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012720 MSH:D009669|NCIT:C3262|UMLS:C0751394|SNOMEDCT_US:126669004|UMLS:C0028433 Nasal tumor|Neoplasia of the nose|Tumor of the nose|Nasal neoplasm|Nose cancer Tumor (An abnormal mass of tissue resulting from abnormally dividing cells) of the nasal cavity. HP:0012721 Venous malformation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012721 UMLS:C2937220|SNOMEDCT_US:297222002 Venous malformations A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region. HP:0012722 Heart block biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012722 MSH:D006327|SNOMEDCT_US:233916004|UMLS:C0018794 Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway. HP:0000734 Disinhibition biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000734 SNOMEDCT_US:247977003|UMLS:C0424296 Disinhibition A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment. HP:0000733 Stereotypy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000733 UMLS:C0038271|MSH:D019956|MSH:D013239|UMLS:C0038273|SNOMEDCT_US:5507002|SNOMEDCT_US:84328007 Repetitive movements|Stereotyped behavior|Stereotyped, repetitive behaviour|Stereotypic behaviors|Stereotyped behaviors|Stereotypical motor behaviors|Sterotyped behavior|Stereotypic behavior|Repetitive or self-injurious behavior 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. HP:0000736 Short attention span biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000736 SNOMEDCT_US:247762003|UMLS:C0262630 Easily distracted|Poor attention span|Problem paying attention|Short attention span Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder. HP:0000735 Impaired social interactions biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000735 MSH:D000067404|SNOMEDCT_US:88598008|UMLS:C0150080 Poor social interactions|Impaired social interaction|Impaired social interactions Difficulty in social interactions related to an impairment of characteristics such as eye contact, smiling, appropriate facial expressions, and body postures and characterized by difficulty in forming peer relationships and forming friendships. HP:0000738 Hallucinations biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000738 MSH:D006212|UMLS:C0018524|UMLS:C0235153|SNOMEDCT_US:7011001 Hallucinations|Sensory hallucination|Hallucination 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. HP:0000737 Irritability biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000737 UMLS:C2700617 Irritability|Irritable HP:0000739 Anxiety biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000739 SNOMEDCT_US:48694002|UMLS:C4020884|UMLS:C0003467|MSH:D001007 Anxiety|Anxiety disease|Anxiousness|Excessive, persistent worry and fear Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control. HP:0410247 Increased anti-animal dander IgE antibody level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410247 Increased level of anti-dander IgE antibody Increased level of IgE antibody against animal dander, tiny scales shed from animal skin or hair, such as from pet dogs or cats. HP:0410246 Increased circulating IgD level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410246 IgD hypergammaglobulinemia|Increased serum IgD|Increased levels of IgD|Elevated IgD|Increased IgD level|Elevated serum IgD An abnormally increased level of immunoglobulin D in blood. HP:0410245 Decreased circulating IgD biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410245 Decreased IgD|IgD deficiency|Decreased IgD in blood An abnormally decreased level of immunoglobulin D (IgD) in blood. HP:0410244 Abnormal circulating IgD level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410244 Abnormal IgD level in blood An abnormal deviation from normal levels of IgD immunoglobulin in blood. HP:0000732 Inflexible adherence to routines or rituals biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000732 UMLS:C1837653 HP:0410249 Increased anti-alpha-gal IgE antibody level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410249 Increased anti-galactose-alpha-1, 3 galactose IgE antibody level Increased level of IgE antibody against galactose-alpha-1, 3 galactose (alpha-gal), a carbohydrate found in mammalian meat. HP:0410248 Increased anti-house dust mite IgE antibody level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410248 Increased level of anti-house dust IgE antibody|Increased anti-house dust IgE antibody level Increased level of IgE antibody against house dust mites, a common allergen. HP:0012723 Sinoatrial block biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012723 UMLS:C0037188|Fyler:7014|SNOMEDCT_US:65778007|MSH:D012848 Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria. HP:0012724 Upper eyelid edema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012724 SNOMEDCT_US:700339006|UMLS:C3839407|UMLS:C2025988 Swelling of upper eyelid|Upper eyelid oedema|Puffiness of upper eyelid|Cellulitis of upper eyelid|Fullness of upper eyelid Edema in the region of the upper eyelid. HP:0012725 Cutaneous syndactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012725 UMLS:C1861921 Cutaneous syndactyly of digits|Syndactyly, cutaneous A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits. HP:0012726 Episodic hypokalemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012726 UMLS:C4022754 Recurrent low potassium An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes. HP:0012727 Thoracic aortic aneurysm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012727 MSH:D017545|SNOMEDCT_US:433068007|UMLS:C0162872 Dilatation of the thoracic aorta An abnormal localized widening (dilatation) of the thoracic aorta. HP:0410243 Abnormal circulating IgM level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410243 Abnormal IgM level in blood An abnormal deviation from normal levels of IgM immunoglobulin in blood. HP:0012728 Fusiform descending thoracic aortic aneurysm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012728 UMLS:C4022753 Dilatation of the fusiform descending thoracic aorta A concentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves the full circumference of the vessel wall HP:0410242 Abnormal circulating IgG level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410242 Abnormal IgG level in blood An abnormal deviation from normal levels of IgG immunoglobulin in blood. HP:0012729 Saccular descending thoracic aortic aneurysm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012729 UMLS:C4022752 Dilatation of the saccular descending thoracic aorta An eccentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves only a portion of the circumference of the vessel wall HP:0410241 Abnormal circulating IgE level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410241 Abnormal IgE level in blood An abnormal deviation from normal levels of IgE immunoglobulin in blood. HP:0410240 Abnormal circulating IgA level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410240 Abnormal IgA level in blood An abnormal deviation from normal levels of IgA immunoglobulin in blood. HP:0012710 Ingrown nail biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012710 MSH:D009263|UMLS:C0027343|SNOMEDCT_US:400097005|SNOMEDCT_US:400200009 Ingrown nail Excessive growth of a nail laterally into the nail fold. HP:0012711 Delayed ossification of vertebral epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012711 UMLS:C4022759|UMLS:C4280312 Delayed maturation of the end part of the vertebral bone A delay in the process of formation and maturation of the epiphysis of one or more vertebrae. HP:0000745 Diminished motivation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000745 SNOMEDCT_US:277521002|UMLS:C0456814 Lacking in initiative|Lack of motivation|Lacks initiative|Lack of initiative|Diminished motivation A reduction in goal-directed behavior, that is, motivation, the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action. HP:0000744 Low frustration tolerance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000744 UMLS:C0548883 The feeling of frustration can be defined as an emotional reaction that occurs if a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration characterized by crying or temper tantrums (in children) or aggressive or other undesirable behaviors. HP:0000746 Delusions biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000746 MSH:D003702|SNOMEDCT_US:2073000|UMLS:C0011253 Delusions A belief that is pathological and is held despite evidence to the contrary. HP:0000749 Paroxysmal bursts of laughter biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000749 UMLS:C1839749 Paroxysmal laughter HP:0000748 Inappropriate laughter biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000748 UMLS:C0424304|SNOMEDCT_US:247985007 Inappropriate laughter HP:0410236 Increased anti-venom IgE antibody level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410236 Increased level of IgE antibody against venom from insects such as bees, wasps, hornets, yellowjackets. HP:0410235 Increased anti-insect IgE antibody level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410235 Increased level of IgE antibody against antigens from insects such as moths, mosquitos, or cockroaches. HP:0410234 Increased anti-parasite IgE antibody level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410234 Increased level of IgE antibody against parasites, such as helminths (parasitic worms, such as Ascaris lumbricoides, Trichuris trichiura, Ancylostoma duodenalis, Necator americanus, Strongyloides stercoralis) or parasites such as Toxoplasma gondii. HP:0410233 Increased anti-meat allergen IgE antibody level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410233 Increased level of IgE antibody against meat, such as mammalian meat, including beef or pork, or poultry, like duck or chicken. HP:0000741 Apathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000741 SNOMEDCT_US:20602000|UMLS:C0085632|MSH:D057565 Lack of feeling, emotion, interest HP:0000740 Episodic paroxysmal anxiety biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000740 UMLS:C1854339 Recurrent attacks of severe anxiety, whose occurence is not restricted to any particular situation or set of circumstances and is therefore unpredictable. HP:0410239 Positive urine norcotinine test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410239 Detection of norcotinine, a metabolite of nicotine, in urine. HP:0410238 Increased anti-plant product IgE antibody level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410238 Increased level of IgE antibody against antigens from plants and products derived from plants, such as wood or pollen. HP:0000743 Frontal release signs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000743 UMLS:C1833297 Frontal release reflexes Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes. HP:0000742 Self-mutilation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000742 UMLS:C0036601|SNOMEDCT_US:130968006|MSH:D012652 Self-mutilation|Self mutilation|Deliberate self-harm HP:0012712 Mild hearing impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012712 UMLS:C4022758 Mild hearing impairment The presence of a mild form of hearing impairment. HP:0012713 Moderate hearing impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012713 UMLS:C4022757 Moderate hearing impairment The presence of a moderate form of hearing impairment. HP:0012714 Severe hearing impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012714 SNOMEDCT_US:3561000119106|UMLS:C3874334 Severe deafness|Severe hearing loss|Severe hearing impairment A severe form of hearing impairment. HP:0012715 Profound hearing impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012715 UMLS:C4022756 Profound hearing impairment A profound (essentially complete) form of hearing impairment. HP:0410232 Increased anti-fungi IgE antibody level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410232 Increased anti-fungus IgE antibody level|Increased anti-fungal IgE antibody level Increased level of IgE antibody against fungus, such as molds like zygomycota, ascomycota and deuteromycota. HP:0012716 Moderate conductive hearing impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012716 UMLS:C4021075 Conductive hearing loss, moderate The presence of a moderate form of conductive hearing impairment. HP:0410231 Increased anti-egg IgE antibody level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410231 Increased level of IgE antibody against eggs, including egg whites, egg yolks, and egg proteins such as ovoalbumin and ovomucoid. HP:0012717 Severe conductive hearing impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012717 UMLS:C4021074 Conductive hearing loss, severe A severe form of conductive hearing impairment. HP:0012718 Morphological abnormality of the gastrointestinal tract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012718 UMLS:C4021073 Morphological abnormality of the GI tract|Morphological anomaly of the digestive system|Abnormal shape of the digestive system Abnormal structure of the gastrointestinal tract. HP:0410230 Increased anti-nut food product IgE antibody level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410230 Increased level of IgE antibody against nut food products such as peanuts or tree nuts, such as hazelnuts, walnuts, cashews, and almonds. HP:0012719 Functional abnormality of the gastrointestinal tract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012719 UMLS:C4022755 GI dysfunction|Functional abnormality of the GI tract Abnormal functionality of the gastrointestinal tract. HP:0011450 Unusual CNS infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011450 MSH:D002494|SNOMEDCT_US:128117002|UMLS:C0007684 Central nervous system infection A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection. HP:0012781 Mid-frequency hearing loss biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012781 UMLS:C4022723 A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz). HP:0012782 Perilobar nephrogenic rest biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012782 UMLS:C1319017|SNOMEDCT_US:405935000 Perilobar nephrogenic rests A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe. HP:0011451 Congenital microcephaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011451 UMLS:C4020749|UMLS:C2677180 Decreased head circumference present at birth|Head circumference small for gestational age|Congenital small head|Congenital decreased head circumference|Congenital small head circumference|Small skull present at birth|Congenital small skull|Small head present at birth|Small head circumference present at birth|Microcephaly present at birth|Small cranium present at birth Head circumference below 2 standard deviations below the mean for age and gender at birth. HP:0012783 Intralobar nephrogenic rest biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012783 UMLS:C1319016|SNOMEDCT_US:405934001 Intralobar nephrogenic rests A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls. HP:0011452 Functional abnormality of the middle ear biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011452 UMLS:C4021846 Functional abnormality of the middle ear An abnormality of the function of the middle ear. HP:0009131 Abnormality of the musculature of the thorax biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009131 UMLS:C4024580 A disease or lesion affecting the muscles of the thorax. HP:0011453 Abnormality of the incus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011453 UMLS:C4023350 An abnormality of the incus, an ossicle in the middle ear. HP:0012784 Perinephritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012784 SNOMEDCT_US:111404004|MSH:D010501|UMLS:C0031065 Inflammation of the connective and adipose tissues surrounding the kidney. HP:0009130 Hand muscle atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009130 UMLS:C0239830 Amyotrophy involving the musculature of the hand|Hand muscle degeneration|Hand muscle wasting|Amyotrophy of hand muscles|Hand muscle wasting, bilateral Muscular atrophy involving the muscles of the hand. HP:0012785 Flexion contracture of finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012785 UMLS:C1857304 Flexion deformity of finger Chronic loss of joint motion in a finger due to structural changes in non-bony tissue. HP:0011454 Abnormality of the malleus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011454 UMLS:C4023349 An abnormality of the malleus, an ossicle in the middle ear. HP:0011455 Absent malleus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011455 SNOMEDCT_US:300169003|UMLS:C0576900 Aplasia of the malleus. HP:0012786 Recurrent cystitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012786 SNOMEDCT_US:197853008|UMLS:C0581366 Recurrent bladder infections Repeated infections of the urinary bladder. HP:0011456 Absent stapes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011456 SNOMEDCT_US:300178009|UMLS:C0576909 Aplasia of the stapes. HP:0012787 Recurrent pyelonephritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012787 UMLS:C0748199 Repeated episodes of pyelonephritis. HP:0011457 Loss of eyelashes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011457 SNOMEDCT_US:34887006|UMLS:C0271321 Missing eyelashes|Milphosis|Eyelashes fell out|Ciliary Madarosis|Loss of eyelashes This term refers to the loss of eyelashes that were previously present. HP:0012788 Reticulate pigmentation of oral mucosa biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012788 UMLS:C1852148 Mottled pigmentation of oral mucosa|Reticulate pigmentation of oral mucous membrane A net-like pattern of increased pigmentation of the oral cavity. HP:0010126 Abnormality of the epiphysis of the proximal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010126 UMLS:C4024033 Abnormality of the end part of the innermost bone of the big toe 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. HP:0010125 Abnormality of the epiphysis of the 1st metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010125 UMLS:C4024034 Abnormality of the end part 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 epiphysis of the first metatarsal bone. HP:0000799 Renal steatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000799 UMLS:C4021796 Fatty kidney Abnormal fat accumulation in the kidneys. HP:0010124 Abnormality of the epiphysis of the distal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010124 UMLS:C4024035 Abnormality of the end part of the outermost bone of the big toe bone HP:0010123 Triangular epiphyses of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010123 UMLS:C4024036 Triangular end part of the big toe bone HP:0010122 Stippling of the epiphyses of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010122 UMLS:C4024037 Speckled calcifications in the end part of the big toe bone The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the hallux. HP:0010121 Small epiphyses of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010121 UMLS:C4024038 Small end part of the big toe bone HP:0010120 Pseudoepiphyses of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010120 UMLS:C4024039 HP:0012780 Neoplasm of the ear biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012780 NCIT:C3262|UMLS:C0013449|MSH:D004428|SNOMEDCT_US:363228008 Ear tumor A tumor (abnormal growth of tissue) of the ear. HP:0410269 Labial hemangioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410269 A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the upper lip. HP:0410268 Spleen hemangioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410268 Splenic hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the spleen. HP:0000791 Uric acid nephrolithiasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000791 SNOMEDCT_US:267441009|UMLS:C0403719 Uric acid urolithiasis|Uric acid stones The presence of uric acid-containing calculi (stones) in the kidneys. HP:0410267 Intestinal hemangioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410267 Bowel hemangioma|Intestinal hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, located in the intestines, which includes the bowel. HP:0000794 IgA deposition in the glomerulus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000794 MSH:D005922|UMLS:C0017661|SNOMEDCT_US:236407003|SNOMEDCT_US:68779003|UMLS:C4025827 IgA nephropathy The presence of immunoglobulin A deposits in the glomerulus. HP:0000793 Membranoproliferative glomerulonephritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000793 MSH:D015432|SNOMEDCT_US:80321008|UMLS:C0017662 MPGN|Mesangiocapillary glomerulonephritis A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity HP:0410266 Visceral hemangioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410266 A hemangioma arising from within visceral structures, the internal organs of the body. HP:0000796 Urethral obstruction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000796 MSH:D014524|UMLS:C0041972|SNOMEDCT_US:95588004 Obstruction of the flow of urine through the urethra. HP:0010129 Cone-shaped epiphysis of the proximal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010129 UMLS:C4024030 Cone-shaped end part of the innermost bone of the big toe HP:0009129 Upper limb amyotrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009129 UMLS:C4021523 Amyotrophy involving the upper limbs Muscular atrophy involving the muscles of the upper limbs. HP:0000795 Abnormality of the urethra biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000795 UMLS:C4025826 Urethra issue An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body. HP:0010128 Bracket epiphysis of the proximal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010128 UMLS:C4024031 Bracket shaped end part of the innermost bone of big toe The epiphysis of the proximal phalanx of the hallux surrounds the diaphysis, having a bracket-like form. HP:0000798 Oligospermia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000798 UMLS:C0028960|MSH:D009845 Low sperm count Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen. HP:0010127 Absent epiphysis of the proximal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010127 UMLS:C4024032 Absent end part of the innermost bone of the big toe Failure to form (agenesis) of the epiphysis of the proximal phalanx of the hallux. HP:0009126 Increased adipose tissue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009126 UMLS:C4024583 Increased adipose tissue|Increased fat 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). HP:0011458 Abdominal symptom biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011458 UMLS:C0740651 A subjective manifestation of disease localized to the abdomen. HP:0410261 Wide space between 4th and 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410261 Wide space between the 4th and 5th toe A widely spaced gap between the fourth toe and the fifth (pinky) toe. HP:0012789 Hypoplasia of the calcaneus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012789 UMLS:C3550873 Underdeveloped heel bone|Hypoplastic calcaneus|Small heel bone Underdevelopment of the heel bone. HP:0009125 Lipodystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009125 SNOMEDCT_US:71325002|MSH:D008060|UMLS:C0023787 Inability to make and keep healthy fat tissue Degenerative changes of the fat tissue. HP:0011459 Esophageal carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011459 SNOMEDCT_US:372138000|UMLS:C0152018 The presence of a carcinoma of the esophagus. HP:0410260 Asymmetrical gluteal crease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410260 Asymmetrical buttock crease|Asymmetrical gluteal sulcus|Asymmetrical horizontal 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. HP:0009128 Aplasia/Hypoplasia involving the musculature of the extremities biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009128 UMLS:C4024581 Absent/underdeveloped muscles of extremities|Absent/small muscles of extremities HP:0009127 Abnormality of the musculature of the limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009127 UMLS:C4024582 Muscle issues in the arms and/or legs|Abnormal limb muscles HP:0410265 Supraglottic hemangioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410265 A hemangioma, a benign tumor of the vascular endothelial cells, located in the upper part of the larynx (voice box) including the epiglottis; the area above the vocal cords. HP:0009122 Aplasia/hypoplasia affecting bones of the axial skeleton biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009122 UMLS:C4024585 Absence (due to failure to form) or underdevelopment of bones of the axial skeleton. HP:0410264 Subglottic hemangioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410264 Airway hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, located in the airway, typically below the vocal chords, that can cause severe obstruction of the airway. HP:0009121 Abnormal axial skeleton morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009121 UMLS:C4020785|UMLS:C4024586 Abnormality of the axial skeleton An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum. HP:0009124 Abnormal adipose tissue morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009124 UMLS:C4021524 Abnormality of fat tissue|Abnormality of fatty tissue|Abnormality of adipose tissue An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes. HP:0000790 Hematuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000790 UMLS:C0018965|MSH:D006417|SNOMEDCT_US:53298000|SNOMEDCT_US:34436003 Blood in urine|High urine occult blood The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). HP:0410263 Brain imaging abnormality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410263 Abnormal brain imaging An anomaly of metabolism or structure of the brain identified by imaging. HP:0009123 Mixed hypo- and hyperpigmentation of the skin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009123 UMLS:C4024584 HP:0410262 Lower cranial nerve dysfunction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410262 Abnormal lower cranial nerve function A functional abnormality affecting the lower cranial nerves, which include the paired 9th (glossopharyngeal), 10th (vagal), 11th (accessory) and 12th (hypoglossal) cranial nerves. HP:0012770 Reduced arm span biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012770 UMLS:C4022730 Reduced arm span Decreased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle). HP:0009140 Synostosis involving bones of the feet biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009140 UMLS:C4024575 Fusion involving the bones of the feet HP:0012771 Increased arm span biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012771 UMLS:C4022729 Increased arm span Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle). HP:0011440 Alcohol-induced rhabdomyolysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011440 UMLS:C4023355 Rhabdomyolysis induced by intake of alcohol. HP:0011441 Abnormality of the medulla oblongata biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011441 UMLS:C4021148 Abnormality of the myencephalon An abnormality of the medulla oblongata, the lower half of the brainstem. HP:0012772 Abnormal upper to lower segment ratio biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012772 UMLS:C4022728 A deviation from normal of the relation between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. HP:0009142 Duplication of bones involving the upper extremities biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009142 UMLS:C4024574 Duplication of bones involving the upper extremities HP:0011442 Abnormal central motor function biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011442 UMLS:C4023354 Abnormality of central motor function An anomaly of the control or production of movement in the central nervous system. HP:0009141 Depletion of mitochondrial DNA in muscle tissue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009141 UMLS:C4021521 Depletion of mitochondrial dna in skeletal muscle tissue HP:0012773 Reduced upper to lower segment ratio biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012773 UMLS:C1836996 Decreased ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. Consider the term Disproportionate tall stature (HP:0001519) if tall stature is also present. HP:0012774 Increased upper to lower segment ratio biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012774 UMLS:C1844571 Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. HP:0011443 Abnormality of coordination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011443 UMLS:C4023353 Coordination issue|Abnormality of coordination HP:0011444 Decorticate rigidity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011444 SNOMEDCT_US:36423000|UMLS:C0231521|MSH:D003655 A type of rigidity in which the arms are in flexion and adduction and the legs are extended. This signifies a lesion in the cerebral white matter, internal capsules, or thalamus. HP:0012775 Stellate iris biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012775 UMLS:C4022727 A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel. HP:0011445 Athetoid cerebral palsy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011445 UMLS:C0270742|MSH:D002547|SNOMEDCT_US:75019001|SNOMEDCT_US:230780007 Dyskinetic cerebral palsy A type of cerebral palsy characterized by slow, involuntary muscle movement and mixed muscle tone. HP:0012776 Abnormal ciliary body morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012776 UMLS:C4022726 Abnormality of the ciliary body A structural anomaly of the ciliary body. HP:0012777 Retinal neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012777 UMLS:C0524801|NCIT:C3262|MSH:D019572|SNOMEDCT_US:127002001 A tumor (abnormal growth of tissue) of the retina. HP:0011446 Abnormality of higher mental function biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011446 UMLS:C4023352 Cognitive, psychiatric or memory anomaly. HP:0010115 Cone-shaped epiphyses of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010115 UMLS:C4024044 Cone-shaped end part of the big toe bone HP:0010114 Bracket epiphyses of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010114 UMLS:C4024045 Bracket shaped end part of big toe bone HP:0010113 Absent hallux epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010113 UMLS:C4020906 Absent end part of big toe bone|Absent epiphyses of the hallux Failure to form (agenesis) of one or more epiphyses of the big toe. HP:0010112 Mesoaxial foot polydactyly biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010112 UMLS:C4021333 Central polydactyly of feet The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly. HP:0010111 Short phalanx of hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010111 UMLS:C4021334 Hypoplastic phalanges of the hallux|Short bone of big toe Underdevelopment (hypoplasia) of a phalanx of big toe. HP:0010110 Aplasia of the phalanges of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010110 UMLS:C4024046 Absent bone of big toe HP:0410258 Neutrophilia in absence of infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410258 An increased number of neutrophils circulating in the blood in the absence of an infection. Factors contributing to neutrophilia could include inflammation or congenital disorders. HP:0410257 Neutrophilia in presence of infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410257 An increased number of neutrophils circulating in the blood during an infection, such as with a bacteria, virus or fungus. HP:0410256 Infection associated neutropenia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410256 Transient neutropenia caused by an infection, such as with a virus, bacteria or protozoan. HP:0410255 Transient neutropenia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410255 A transient reduction in the number of neutrophils in the peripheral blood. Transient neutropenia is most commonly associated with viral infections, but other causes include drugs and autoimmunity. HP:0010119 Ivory epiphyses of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010119 UMLS:C4024040 Increased bone density of end part of the big toe bone HP:0010118 Irregular epiphyses of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010118 UMLS:C4024041 Irregular end part of big toe bone HP:0010117 Fragmentation of the epiphyses of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010117 UMLS:C4024042 Fragmentation of the end part of the big toe bone HP:0010116 Enlarged epiphyses of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010116 UMLS:C4024043 Enlarged end part of the big toe bone HP:0410259 Hepatopulmonary fusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410259 Hepatic pulmonary fusion Fusion of the liver with the lung. HP:0011447 Hyposegmentation of neutrophil nuclei biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011447 UMLS:C4023351|MSH:D010381|SNOMEDCT_US:85559002|UMLS:C0030779 Hyposegmentation of neutrophil nuclei in peripheral blood|Pelger-Huet anomaly Hyposegmented (hypolobulated) or bilobed neutrophil nuclei. HP:0012778 Retinal astrocytic hamartoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012778 UMLS:C4022725 A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte. HP:0011448 Ankle clonus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011448 SNOMEDCT_US:39055007|UMLS:C0238651 Abnormal rhythmic movements of ankle Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward. HP:0012779 Transient hearing impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012779 UMLS:C4022724 Hearing loss that occurs acutely and resolves completely. HP:0009136 Duplication involving bones of the feet biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009136 UMLS:C4024578 Duplication involving bones of the feet HP:0011449 Knee clonus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011449 UMLS:C0520823|SNOMEDCT_US:54360005 Patellar 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. HP:0009139 Osteolysis involving bones of the lower limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009139 UMLS:C4024576 HP:0009138 Synostosis involving bones of the lower limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009138 UMLS:C4024577 Fusion involving the bones of the lower limbs An abnormal union between bones or parts of bones lower limbs. HP:0410254 Cyclic neutropenia in myeloid maturation arrest in bone marrow biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410254 Cyclic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow. HP:0009132 Abnormal tarsal bone mineral density biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009132 UMLS:C4021522 Abnormality of bone mineral density involving tarsal bones This term applies to all changes in bone mineral density of the tarsal bones, which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. HP:0410253 Myeloid maturation arrest biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410253 Myeloid maturation arrest in bone marrow Chornic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow. HP:0410252 Chronic neutropenia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410252 Neutropenia with an absolute neutrophil count (ANC) less than 1,500,000,000/L lasting for more than 3 months. HP:0410251 Abnormal L-selectin shedding biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410251 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. HP:0009134 Osteolysis involving bones of the feet biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009134 UMLS:C4024579 HP:0012760 Impaired social reciprocity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012760 UMLS:C4022736 A reduced ability to participate in the back and forth flow of social interaction, which is normally characterized by an influence of the behavior of one person on the behavior of another person who is in conversation with the first. HP:0012761 Absent mastoid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012761 UMLS:C4021070 Failure of development of mastoid|Absent mastoids|Mastoid agenesis A developmental anomaly in which the mastoid process fails to form and is thus found to be congenitally absent. HP:0011430 Hypoplasia of fetal nasal bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011430 UMLS:C4023363 Hypoplasia of foetal nasal bone|Underdeveloped fetal nose bone On prenatal ultrasound, the nasal bone is a thin echogenic line within the bridge of the fetal nose. The fetus is imaged facing the transducer with the fetal face strictly in the midline. The angle of insonation is 90 degrees, with the longitudinal axis of the nasal bone as the reference line. Calibres are placed at each end of the nasal bone. Absence of the nasal bone or measurements below 2.5th percentile are considered significant (PMID:16100637). HP:0011431 Fetal fifth finger clinodactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011431 UMLS:C4023362|UMLS:C4280326 Fetal pinky finger curvature|Fetal little finger curvature|Fetal pinkie finger curvature|Foetal 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). HP:0012762 Cerebral white matter atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012762 UMLS:C4022735 The presence of atrophy (wasting) of the cerebral white matter. HP:0410290 Positive urine norpropoxyphene test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410290 Detection of norpropoxyphene in urine. HP:0012763 Paroxysmal dyspnea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012763 SNOMEDCT_US:59265000|UMLS:C0013405|MSH:D004418 Paroxysmal dyspnoea A sudden attack of dyspnea that occurs while the affected person is at rest. HP:0011432 High maternal serum alpha-fetoprotein biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011432 UMLS:C4023361 An abnormally high concentration of serum alpha-fetoprotein as compared to normal values for gestational-age. HP:0011433 High maternal serum chorionic gonadotropin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011433 UMLS:C4021150 High maternal serum hCG An abnormally high concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age. HP:0012764 Orthopnea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012764 SNOMEDCT_US:62744007|UMLS:C0085619 A sensation of breathlessness in the recumbent position, relieved by sitting or standing. HP:0011434 Low maternal serum chorionic gonadotropin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011434 UMLS:C4021149 Low maternal serum hCG An abnormally low concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age. HP:0012765 Widened cerebellar subarachnoid space biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012765 UMLS:C4022734 An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum. HP:0011435 Low maternal serum PAPP-A biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011435 UMLS:C4023360 An abnormally low concentration of serum PAPP-A (pregnancy associated plasma protein A), as compared to normal values for gestational-age. HP:0012766 Widened cerebral subarachnoid space biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012766 UMLS:C4022733 An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum. HP:0010104 Absent first metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010104 UMLS:C1863382 Absent 1st metatarsal|Absent 1st long bone of foot|Aplasia of the 1st metatarsal A developmental defect characterized by the absence of the first metatarsal bone. HP:0000778 Hypoplasia of the thymus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000778 UMLS:C0685891|UMLS:C4228227|SNOMEDCT_US:93297002 Small thymus|Thymus hypoplasia|Thymic hypoplasia Underdevelopment of the thymus. HP:0000777 Abnormality of the thymus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000777 UMLS:C0685891|UMLS:C0262650|SNOMEDCT_US:93297002 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. HP:0010103 Short distal phalanx of hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010103 UMLS:C4021335 Hypoplastic/small distal phalanx of the hallux|Small outermost bone of big toe|Small distal phalanx of big toe|Small distal phalanx of hallux Underdevelopment (hypoplasia) of the distal phalanx of big toe. HP:0010102 Aplasia of the distal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010102 UMLS:C4024048 Absent outermost bone of big toe HP:0010101 Partial duplication of the phalanges of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010101 UMLS:C1855005 partial duplication of hallux|Partial duplication of big toe HP:0010100 Complete duplication of hallux phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010100 UMLS:C4021336 Complete duplication of big toe bones|Complete duplication of the phalanges of the hallux Complete duplication of one or more phalanx of big toe. HP:0000772 Abnormality of the ribs biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000772 UMLS:C1842083 Rib anomalies|Rib abnormalities|Abnormality of the ribs An anomaly of the rib. HP:0410289 Hypoamylasemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410289 Decreased circulating amylase level Decreased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands. HP:0010109 Short hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010109 UMLS:C1865992 Short halluces|Hypoplastic big toes|Small hallux|Short big toe|Hypoplastic hallux Underdevelopment (hypoplasia) of the big toe. HP:0000771 Gynecomastia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000771 SNOMEDCT_US:4754008|UMLS:C0018418|MSH:D006177 Gynaecomastia|Enlarged male breast Abnormal development of large mammary glands in males resulting in breast enlargement. HP:0410288 Hyperamylasemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410288 Increased circulating amylase level Increased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands. HP:0000774 Narrow chest biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000774 SNOMEDCT_US:249671009|UMLS:C0426790 Narrow shoulders|Reduced anterior-posterior chest diameter|Narrow chest|Narrow thorax|Low chest circumference Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. HP:0009108 Aplasia/Hypoplasia involving the femoral head and neck biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009108 UMLS:C4024594 Absent/small head and neck of thighbone|Absent/underdeveloped head and neck of thighbone HP:0009107 Abnormal ossification involving the femoral head and neck biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009107 UMLS:C4024595 Abnormal maturation of thigh bone head and neck HP:0000773 Short ribs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000773 UMLS:C0426817|SNOMEDCT_US:249696007 Hypoplastic ribs|Rib hypoplasia|Short ribs Reduced rib length. HP:0010107 Short proximal phalanx of hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010107 UMLS:C1862159 Short proximal phalanx of halluces|Small proximal phalanx of hallux|Short innermost big toe bone|Hypoplastic proximal phalanx of the hallux|Small proximal phalanx of big toe|Short proximal phalanges of halluces Underdevelopment (hypoplasia) of the proximal phalanx of big toe. HP:0000776 Congenital diaphragmatic hernia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000776 UMLS:C0235833|MSH:D065630|SNOMEDCT_US:17190001 Diaphragmatic hernia The presence of a hernia of the diaphragm present at birth. HP:0010106 Aplasia of the proximal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010106 UMLS:C4024047 Absent innermost bone of big toe HP:0010105 Short first metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010105 UMLS:C1841688 Short 1st long bone of foot|First metatarsals hypoplastic|First metatarsal hypoplasia Short first metatarsal bone. HP:0000775 Abnormality of the diaphragm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000775 UMLS:C1848873 Abnormality of the diaphragm|Diaphragmatic defect|Diaphragm issues Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity. HP:0009109 Denervation of the diaphragm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009109 UMLS:C1858529 Interruption of the innervation of the diaphragm. HP:0009104 Aplasia/Hypoplasia of the pubic bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009104 UMLS:C1849305 Absent/underdeveloped pubic bones|Absent/small pubic bones|Hypoplastic/aplastic pubic bones Absence or underdevelopment of the pubic bone. HP:0012767 Abnormal placental size biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012767 UMLS:C4022732 A deviation from normal size of the placenta. HP:0011436 Abnormal maternal serum screening biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011436 UMLS:C4023359 An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy. HP:0410283 Positive blood acetaminophen test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410283 Positive blood paracetamol test|Positive blood Tylenol test Detection of acetaminophen in the blood. HP:0009103 Aplasia/Hypoplasia involving the pelvis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009103 UMLS:C4024597 Absent/small pelvis|Absent/underdeveloped pelvis HP:0012768 Neonatal asphyxia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012768 UMLS:C0004045|SNOMEDCT_US:413654009|MSH:D001238|SNOMEDCT_US:28314004 Asphyxia neonatorum Respiratory failure in the newborn. HP:0011437 Maternal autoimmune disease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011437 UMLS:C4023358 A medical history of a fetus or child born to a mother with an autoimmune disease. HP:0410282 Abnormal circulating amylase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410282 A deviation from the normal concentration of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands. HP:0009106 Abnormal pelvis bone ossification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009106 UMLS:C4021525|UMLS:C4280402 Abnormal ossification involving the bones of the pelvis|Abnormal maturation of the pelvis bone An abnormality of the formation and mineralization of any bone of the bony pelvis. HP:0012769 Abnormal arm span biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012769 UMLS:C4022731 Abnormal arm span A deviation from normal of the length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle) HP:0011438 Maternal teratogenic exposure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011438 UMLS:C4023357 A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy. HP:0410281 Dyspepsia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410281 Indigestion A heterogeneous group of symptoms that are localized in the epigastric region. Typical dyspeptic symptoms include postprandial fullness, early satiation, epigastric pain and epigastric burning, but other upper gastrointestinal symptoms such as nausea, belching or abdominal bloating often occur. HP:0009105 Abnormal ossification of the pubic bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009105 UMLS:C4024596|UMLS:C4280403 Abnormal maturation of the pubic bone Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis. HP:0410280 Pediatric onset biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410280 Paediatric onset|Onset before adulthood Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset. HP:0011439 Anesthetic-induced rhabdomylosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011439 UMLS:C4023356 Rhabdomyolysis induced by anesthesia. HP:0410287 Intrathoracic hemangioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410287 Chest hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the intrathoracic or chest region. HP:0009100 Thick anterior alveolar ridges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009100 UMLS:C1859377 Thick anterior alveolar process of jaw HP:0410286 Positive blood molindone test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410286 Positive blood Moban test Detection of molindone in the blood, an antipyschotic used for treatment of schizophrenia. HP:0009102 Anterior open-bite malocclusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009102 UMLS:C4024598 Anterior openbite|Absence of overlap of anterior upper and lower teeth|Apertognathia malocclusion|Gap between upper and lower front teeth when biting|AOB|Anterior open bite between upper and lower teeth|Anterior open bite Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion. HP:0410285 Positive meconium methadone test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410285 Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in meconium. HP:0410284 Positive norpropoxyphene blood test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410284 Detection of norpropoxyphene in the blood, a major metabolite of the opioid analgesic drug dextropropoxyphene. HP:0009101 Submucous cleft lip biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009101 UMLS:C1839277 Submucous labial cleft A cleft of the lip with overlying mucous membrane. HP:0009120 Aplasia/Hypoplasia involving the sinuses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009120 UMLS:C4024587 Absence or underdevelopment of a cranial sinus or sinuses. HP:0012750 T2 hypointense brainstem biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012750 UMLS:C4022746 A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a diffuse hypointensity affecting the entire brainstem. HP:0011420 Age of death biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011420 UMLS:C1546180 The age group when the cessation of life happens. HP:0012751 Abnormal basal ganglia MRI signal intensity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012751 UMLS:C4022745 A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia. HP:0012752 Focal T2 hypointense basal ganglia lesion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012752 UMLS:C4022744 A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hypointensity affecting a particular region of the basal ganglia. HP:0011421 Death in adolescence biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011421 UMLS:C4023368 Death in adolescence Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 19 years). HP:0012753 T2 hypointense basal ganglia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012753 UMLS:C4022743 A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a diffuse hypointensity affecting all of the basal ganglia. HP:0011422 Abnormal blood chloride concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011422 UMLS:C4023367 Abnormal blood Cl- concentration|Abnormality of chloride homeostasis|Abnormal blood Cl concentration An abnormality of chloride homeostasis or concentration in the body. HP:0012754 CNS hypermyelination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012754 UMLS:C4022742 Increased amount of myelin in the central nervous system. HP:0011423 Hyperchloremia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011423 SNOMEDCT_US:74450001|UMLS:C0085679 An abnormally increased chloride concentration in the blood. HP:0012755 Enlarged brainstem biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012755 UMLS:C4022741 Abnormal increase in size of the brainstem. HP:0011424 Increased serum zinc biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011424 UMLS:C0856208|UMLS:C0854520 Hyperzincemia An increased consentration of zinc in the blood. HP:0000789 Infertility biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000789 UMLS:C0021359|SNOMEDCT_US:15296000|SNOMEDCT_US:8619003|MSH:D007246 Infertility HP:0410279 Atrophic pituitary gland biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410279 Pituitary gland atrophy|Atrophic pituitary Partial or complete wasting (loss) of the pituitary gland. HP:0410278 Pituitary gland cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410278 Cyst of the pituitary gland A fluid-filled sacs that develop on or near the pituitary gland. HP:0000782 Abnormal scapula morphology biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000782 UMLS:C4025828 Abnormality of the shoulder blade Any abnormality of the scapula, also known as the shoulder blade. HP:0410277 Sternal pit biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410277 A sternal pit is a small indentation or dimple in the skin overlying the sternum of the chest. In some cases, the skin defect can be linear, extending several inches over the sternum. HP:0009119 Aplasia/Hypoplasia of the frontal sinuses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009119 UMLS:C4024588 Abnormally small frontal sinus Absence or underdevelopment of frontal sinus. HP:0009118 Aplasia/Hypoplasia of the mandible biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009118 UMLS:C4024589|MSH:D063173|UMLS:C3494426|UMLS:C4280261|UMLS:C4280401|UMLS:C4021371 Absence or underdevelopment of the mandible. HP:0000787 Nephrolithiasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000787 MSH:D053040|UMLS:C0392525 Renal stones|Kidney stones|Renal calculi The presence of calculi (stones) in the kidneys. HP:0000786 Primary amenorrhea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000786 UMLS:C0232939|SNOMEDCT_US:8913004 HP:0012756 CSF polymorphonuclear pleocytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012756 UMLS:C4022740 An increased polymorphonuclear cell count in the cerebrospinal fluid. HP:0009115 Aplasia/hypoplasia involving the skeleton biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009115 UMLS:C4024592 Absent/small skeleton|Absent/underdeveloped skeleton Absence (due to failure to form) or underdevelopment of one or more components of the skeleton. HP:0011425 Fetal ultrasound soft marker biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011425 UMLS:C4023366 Foetal 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. HP:0410272 Vulvar hemangioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410272 A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the vulva. HP:0011426 Fetal choroid plexus cysts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011426 SNOMEDCT_US:462165005|UMLS:C3532166 Foetal choroid plexus cysts Fetal choroid plexus cysts (CPCs) are sonographically discrete, small cysts found in the choroid plexus within the lateral cerebral ventricles of the developing fetus at 14 to 24 weeks gestation. Imaging of the choroid plexus is performed in the transverse plane of the fetal head at the same level that the lateral cerebral ventricle is evaluated. The choroid plexus should be inspected bilaterally for the presence of cysts. The size of CPCs is not of clinical relevance (PMID:16100637). HP:0410271 Laryngeal hemangioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410271 Throat hemangioma A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the glottic or supraglottic regions. HP:0012757 Abnormal neuron morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012757 UMLS:C4022739 Abnormal neuronal morphology|Abnormal neuron shape A structural anomaly of a neuron. HP:0011427 Enlarged fetal cisterna magna biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011427 UMLS:C4023365 Enlarged foetal cisterna magna The cisterna magna is measured on a transaxial view of the fetal head angled 15 degrees caudal to the canthomeatal line. The anterior/posterior diameter is taken between the inferior/posterior surface of the vermis of the cerebellum to the inner surface of the cranium. An enlarged cisternal magna is defined by an anterior/posterior diameter of 10 mm or more (PMID:16100637). HP:0012758 Neurodevelopmental delay biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012758 UMLS:C4022738 HP:0009117 Aplasia/Hypoplasia of the maxilla biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009117 UMLS:C4024590 Underdevelopment of upper jaw bones|Underdevelopment of maxilla Absence or underdevelopment of the maxilla. HP:0410270 Esophageal hemangioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410270 A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the esophagus. HP:0009116 Aplasia/Hypoplasia involving bones of the skull biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009116 UMLS:C4024591 HP:0011428 Short fetal femur length biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011428 UMLS:C0743924 Short foetal femur length|Short fetal thigh bone length A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637). HP:0012759 Neurodevelopmental abnormality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012759 UMLS:C4022737 A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. HP:0410276 Supraumbilical raphe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410276 Midline supraumbilical raphe An abnormality of the sternum that presents at birth as a ventral sternal non-union defect, due to an abnormality of the fusion of the layers of the skin. It presents as a scar-like line that extends upward from the umbilicus (belly button). HP:0011429 Short fetal humerus length biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011429 UMLS:C4023364 Short fetal long bone in upper arm length|Short foetal humerus length A short humerus length is defined as a length below the 2.5th percentile for gestational age or as a measurement less than 0.9 of that predicted by the measured biparietal diameter. The humerus should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637). HP:0009110 Diaphragmatic eventration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009110 SNOMEDCT_US:34168003|UMLS:C0011981|MSH:D003965 Eventration of the diaphragm A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development. HP:0410275 Lumbosacral hemangioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410275 Lumbar/sacral hemangioma A spinal cord hemangioma located in the lumbosacral spine region. HP:0009113 Diaphragmatic weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009113 UMLS:C0521532|UMLS:C4020786|SNOMEDCT_US:95438009 Weak diaphragm|Diaphragmatic paraparesis|Diminished diaphragmatic motion A decrease in the strength of the diaphragm. HP:0410274 Paraspinal hemangioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410274 A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the paraspinal muscular region, the muscles next to the spine. HP:0410273 Retropharyngeal hemangioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410273 NCIT:C3085 A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the retropharyngeal space, the portion of the peripharyngeal space that is located posterior to the pharynx. HP:0009112 Aplasia of the left hemidiaphragm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009112 UMLS:C4024593 Absent left hemidiaphragm|Left diaphragmatic hernia Congenital absence of the left half of the diaphragm. HP:0410299 Decreased specific antibody response to polysaccharide vaccine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410299 A reduced ability to synthesize postvaccination antibodies against polysaccharides in vaccines, as measured by antibody titer determination following vaccination. HP:0410294 Decreased specific antibody response to protein vaccine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410294 A reduced ability to synthesize postvaccination antibodies against proteins in vaccines, as measured by antibody titer determination following vaccination. HP:0410293 Absent isohemagglutinin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410293 Complete or near-complete absence of isohemagglutinins|Absent natural antibody to blood group agents Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person). HP:0410292 Abnormal isohemagglutinin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410292 Abnormal natural antibody level to blood group antigens in blood (isohemagglutinin)|Abnormal level of natural antibody to blood group agents An abnormal level of isohemagglutinin in the blood. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person). HP:0410291 Negativism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410291 Opposing or not responding to instructions or external stimuli. HP:0410298 Partial absence of specific antibody response to hepatitis B vaccine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410298 A reduced ability to synthesize postvaccination antibodies against a hepatitis B antigen, as measured by antibody titer determination following vaccination. HP:0410297 Partial absence of specific antibody response to tetanus vaccine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410297 A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination. HP:0410296 Complete or near-complete absence of specific antibody response to hepatitis B vaccine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410296 The inability to synthesize postvaccination antibodies against a hepatisis B antigen, as measured by antibody titer determination following vaccination. HP:0410295 Complete or near-complete absence of specific antibody response to tetanus vaccine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410295 The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination. HP:0000719 Inappropriate behavior biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000719 SNOMEDCT_US:112082005|UMLS:C0233522 Inappropriate behaviour|Inappropriate behavior HP:0012700 Abnormal large intestine physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012700 UMLS:C4022766 A functional anomaly of the large intestine. HP:0000712 Emotional lability biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000712 UMLS:C0085633|SNOMEDCT_US:18963009 Emotional instability Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or out of proportion to events and circumstances. HP:0000711 Restlessness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000711 SNOMEDCT_US:162221009|UMLS:C3887611 Restlessness A state of unease characterized by diffuse motor activity or motion subject to limited control, nonproductive or disorganized behavior, and subjective distress. HP:0000713 Agitation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000713 SNOMEDCT_US:24199005|UMLS:C0085631 A state of exceeding restlessness and excessive motor activity associated with mental distress or a feeling of inner tension. HP:0000716 Depressivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000716 SNOMEDCT_US:78667006|UMLS:C0011581|SNOMEDCT_US:35489007|MSH:D003866|SNOMEDCT_US:21061000119107 Depressive disorder|Depression Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior. HP:0000718 Aggressive behavior biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000718 SNOMEDCT_US:248004009|SNOMEDCT_US:61372001|MSH:D000374|UMLS:C0424323|UMLS:C1457883|UMLS:C0001807 Aggression|physical aggression|Aggressiveness|Aggressive behavior|Aggressive behaviour Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself. HP:0000717 Autism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000717 SNOMEDCT_US:408856003|UMLS:C0004352|SNOMEDCT_US:43614003|SNOMEDCT_US:408857007|MSH:D001321 Autism Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV). HP:0012709 Abnormal brain choline/creatine ratio by MRS biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012709 UMLS:C4022760 A deviation from normal in the ratio of choline to creatine in the brain identified by magnetic resonance spectroscopy (MRS). HP:0000710 Hyperorality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000710 UMLS:C1838320 Hyperoralia A tendency or compulsion to examine objects by mouth. HP:0012701 Bowel urgency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012701 UMLS:C0426636|SNOMEDCT_US:71820002 Fecal urgency A sudden, irresistible need to have a bowel movement. HP:0012702 Tenesmus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012702 SNOMEDCT_US:267053000|UMLS:C0232726|SNOMEDCT_US:6548007 A repeated, painful urge to defecate without excreting stool. HP:0012703 Abnormal subarachnoid space morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012703 UMLS:C4022765 Abnormality of the subarachnoid space Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid. HP:0012704 Widened subarachnoid space biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012704 UMLS:C1846151 Enlarged subarachnoid space|Widened subarachnoid spaces An increase in size of the anatomic space between the arachnoid membrane and pia mater. HP:0012705 Abnormal metabolic brain imaging by MRS biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012705 UMLS:C4022764 An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS). HP:0012706 Elevated brain choline level by MRS biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012706 UMLS:C4022763 An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS). HP:0012707 Elevated brain lactate level by MRS biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012707 UMLS:C4022762 An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS). HP:0012708 Reduced brain N-acetyl aspartate level by MRS biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012708 UMLS:C4022761 Reduced brain N-acetyl aspartate level by magnetic resonance spectroscopy A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS). HP:0000723 Restrictive behavior biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000723 UMLS:C4021799|UMLS:C2675334 Restrictive behaviour|Restrictive behavior, interests, and activities|Restricted behavior Behavior characterized by an abnormal limitation to few interests and activities. HP:0000722 Obsessive-compulsive behavior biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000722 MSH:D009771|UMLS:C0028768|MSH:D003192|SNOMEDCT_US:12479006|UMLS:C0600104|SNOMEDCT_US:191736004 Obsessive compulsive disorder|OCD|Obsessive-compulsive disorder|Obsessive compulsive behavior|Obsessive-compulsive behavior|Obsessive-compulsive behaviour 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). HP:0000725 Psychotic episodes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000725 UMLS:C0338614 Psychotic episodes HP:0000727 Frontal lobe dementia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000727 SNOMEDCT_US:278857002|UMLS:C0338455 HP:0000726 Dementia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000726 UMLS:C0497327|SNOMEDCT_US:52448006|MSH:D003704 Progressive dementia|Dementia, progressive|Dementia A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. HP:0000729 Autistic behavior biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000729 MSH:D000067877|UMLS:C0856975|UMLS:C1510586 Pervasive developmental disorder|ASD|Autistic behaviors|Autism spectrum disorder|Autistic behaviour|Autism spectrum disorders Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. HP:0000728 Impaired ability to form peer relationships biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000728 UMLS:C1837649 HP:0000721 Lack of spontaneous play biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000721 UMLS:C1837650 Lack of spontaneous play HP:0000720 Mood swings biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000720 UMLS:C0085633|SNOMEDCT_US:18963009 Mood swings An exaggeration of emotional affects such as laughing crying, or yawning beyond what the person feels. HP:0000709 Psychosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000709 SNOMEDCT_US:69322001|UMLS:C0033975|MSH:D011618 Psychosis A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs. HP:0000708 Behavioral abnormality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000708 MSH:D000066553|UMLS:C0004941|UMLS:C0233514|SNOMEDCT_US:25786006|SNOMEDCT_US:277843001|MSH:D001526 Psychiatric disturbances|Psychiatric disorders|Behavioural/Psychiatric abnormality|Behavioral/psychiatric abnormalities|Behavioural abnormality|Behavioral symptoms|Behavioral disorders|Behavioral disturbances|Behavioral changes|Behavioral abnormality|Behavioral problems An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities. HP:0000700 Periapical bone loss biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000700 UMLS:C0034543|SNOMEDCT_US:81407003|MSH:D011842|UMLS:C4280609|UMLS:C0031029|MSH:D010484|SNOMEDCT_US:89988002|UMLS:C1852169 Periapical lesion|Periapical cyst|Periapical radiolucencies|Bone loss around tooth root|Dark spot around tooth root on x-ray|Periapical radiolucency|Periapical granuloma Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root). HP:0000703 Dentinogenesis imperfecta biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000703 UMLS:C0011436|SNOMEDCT_US:196286005|MSH:D003811 Developmental dysplasia of dentin. HP:0000705 Amelogenesis imperfecta biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000705 SNOMEDCT_US:78494001|UMLS:C0002452|MSH:D000567 A developmental dysplasia of the dental enamel. HP:0000704 Periodontitis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000704 UMLS:C0031090|MSH:D005882|MSH:D010518|MSH:D010510|SNOMEDCT_US:41565005|UMLS:C0017563|UMLS:C0031099|SNOMEDCT_US:2556008|SNOMEDCT_US:18718003 Periodontal disease|Pyorrhea|Gum disease Inflammation of the periodontium. HP:0000707 Abnormality of the nervous system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000707 MSH:D009421|UMLS:C0497552|SNOMEDCT_US:88425004 Neurological abnormality|Brain and/or spinal cord issue|Abnormality of the nervous system|Neurologic abnormalities An abnormality of the nervous system. HP:0000706 Unerupted tooth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000706 SNOMEDCT_US:109542004|UMLS:C1290587 Unerupted dentition|Pseudoanodontia|Failure of eruption of tooth|Pseudo-anodontia|Unerupted tooth The presence of one or more embedded tooth germs which have failed to erupt. HP:0010096 Complete duplication of the distal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010096 UMLS:C4024051 Complete duplication of the outermost bone of the big toe HP:0010095 Partial duplication of the proximal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010095 UMLS:C4024052 Partial duplication of the innermost bone of big toe Partial duplication of the proximal phalanx of big toe. HP:0010094 Complete duplication of the proximal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010094 UMLS:C4024053 Complete duplication of the innermost bone of big toe Complete duplication of the proximal phalanx of big toe. HP:0010093 Duplication of the proximal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010093 UMLS:C4024054 Duplication of the innermost bone of big toe Partial or complete duplication of the proximal phalanx of big toe. HP:0010092 Triangular shaped proximal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010092 UMLS:C4024055 Triangular shaped innermost bone of big toe HP:0010091 Symphalangism affecting the proximal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010091 UMLS:C4024056 Fused innermost bone of big toe HP:0010090 Patchy sclerosis of the proximal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010090 UMLS:C4024057 Uneven increase in bone density in the innermost bone of the big toe HP:0010099 Partial duplication of the 1st metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010099 UMLS:C4024049 Partial duplication of the 1st long bone of foot A developmental defect consisting in the duplication of part of the first metatarsal bone. HP:0010098 Complete duplication of the 1st metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010098 UMLS:C4024050 Complete duplication of the 1st long bone of foot A developmental defect consisting in the complete duplication of the first metatarsal bone. HP:0010097 Partial duplication of the distal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010097 UMLS:C4021337 Partial duplication of the outermost bone of big toe|Bifid distal phalanx of hallux|Notched outermost bone of big toe HP:0011373 Incomplete partition of the cochlea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011373 UMLS:C4023392 Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema. HP:0010041 Short 3rd metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010041 UMLS:C1850631 Hypoplastic 3rd metacarpal|Small 3rd metacarpals|Short third metacarpals|Shortened 3rd long bone of hand Short third metacarpal bone. HP:0010040 Aplasia of the 3rd metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010040 UMLS:C4024088 Absent 3rd long bone of hand Absence of the third long bone of the hand. HP:0011374 Incomplete partition of the cochlea type I biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011374 UMLS:C4023391 Incomplete partition I is also known as cystic cochleovestibular malformation, where the cochlea has no bony modiolus, resulting in an empty cystic cochlea. This is accompanied by a dilated cystic vestibule with developmental arrest at the fifth week of gestation. HP:0009051 Increased muscle glycogen content biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009051 UMLS:C1968729 An increased amount of glycogen in muscle tissue. HP:0011375 Cochlear aplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011375 UMLS:C4023390 Absent cochlea Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect. HP:0009054 Scapuloperoneal myopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009054 MSH:C536624|UMLS:C2931268 HP:0009053 Distal lower limb muscle weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009053 UMLS:C1836450 Distal muscle weakness in lower limbs|Muscle weakness, lower limb, distal Reduced strength of the distal musculature of the legs. HP:0011376 Morphological abnormality of the vestibule of the inner ear biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011376 UMLS:C0542259 Vestibular abnormality A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals. HP:0011377 Aplasia of the vestibule biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011377 UMLS:C4023389 Absent vestibule Complete absence of the vestibule of the inner ear. HP:0011378 Hypoplasia of the vestibule of the inner ear biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011378 UMLS:C4023388 Underdevelopment of the vestibule of the inner ear. HP:0009050 Quadriceps muscle atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009050 UMLS:C4024603 Wasting of quad muscles Muscular atrophy involving the quadriceps muscle. HP:0011379 Dilated vestibule of the inner ear biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011379 UMLS:C4023387 Dilatation of the vestibule of the inner ear. HP:0010049 Short metacarpal biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010049 UMLS:C1837084 Hypoplastic metacarpal|Shortened metacarpals|Short metacarpals|Shortened long bones of hand|Brachymetacarpalia|Short metacarpal bones|Shortened long bone of hand|Metacarpal hypoplasia|Shortening of metacarpals Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. HP:0010048 Aplasia of metacarpal bones biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010048 UMLS:C1846473 Absent metacarpals|Absent long bone of hand|Absent metacarpal Developmental defect associated with absence of one or more metacarpal bones. HP:0010047 Short 5th metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010047 UMLS:C1861388 Hypoplastic 5th metacarpal|Short fifth metacarpals|Shortened 5th long bone of hand|Short fifth metacarpal|Fifth metacarpal hypoplasia Short fifth metacarpal bone. HP:0010046 Aplasia of the 5th metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010046 UMLS:C1867929 Absent 5th metacarpal|Absent 5th long bone of hand Absence of the fifth long bone of the hand. HP:0010045 Aplasia/Hypoplasia of the 5th metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010045 UMLS:C4024085 Absent/underdeveloped 5th long bone of hand|Absent/small 5th long bone of hand Aplasia or Hypoplasia affecting the 5th metacarpal. HP:0010044 Short 4th metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010044 UMLS:C1840309 Shortened 4th long bone of hand|Hypoplastic fourth metacarpal|Short fourth metacarpals|Short 4th metacarpals Short fourth metacarpal bone. HP:0011370 Recurrent cutaneous fungal infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011370 UMLS:C4023394 Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections. HP:0011371 Recurrent viral skin infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011371 UMLS:C4023393 Recurrent viral skin infections Increased susceptibility to viral skin infections, as manifested by recurrent episodes of viral skin infections. HP:0010043 Aplasia of the 4th metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010043 UMLS:C4024086 Absent 4th long bone of hand Absence of the fourth long bone of the hand. HP:0011372 Aplasia of the inner ear biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011372 SNOMEDCT_US:71973003|UMLS:C0266604 Aplasia of the labyrinth|Labyrinthine aplasia|Absent inner ear|Michel deformity Absence of the inner ear due to a developmental defect. HP:0010042 Aplasia/Hypoplasia of the 4th metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010042 UMLS:C4024087 Absent/underdeveloped 4th long bone of hand|Absent/small 4th long bone of hand Aplasia or Hypoplasia affecting the 4th metacarpal. HP:0009049 Peroneal muscle atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009049 UMLS:C1389118 Peroneal atrophy Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius). HP:0009045 Exercise-induced rhabdomyolysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009045 UMLS:C4021526 Rhabdomyolysis with exercise Rhabdomyolysis induced by exercise. HP:0009044 obsolete Hypoplasia of deltoid muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009044 HP:0009046 Difficulty running biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009046 UMLS:C0560346|SNOMEDCT_US:282479002 Difficulty running Reduced ability to run. HP:0011362 Abnormal hair quantity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011362 UMLS:C4023401|UMLS:C4023397 Abnormality of hair density|Abnormal hair quantity An abnormal amount of hair. HP:0012693 Abnormal thalamic size biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012693 UMLS:C4022773 Deviation from the normal range of size of the thalamus. HP:0010030 Osteolytic defects of the 1st metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010030 UMLS:C4024094 Dissolution or degeneration of bone tissue of the 1st metacarpal. HP:0009063 Progressive distal muscle weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009063 UMLS:C1836609 Muscle weakness, distal, progressive|Muscle weakness, progressive, distal Progressively reduced strength of the distal musculature. HP:0009062 Infantile axial hypotonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009062 UMLS:C3806604 Hypotonia, axial, in infancy Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy. HP:0012694 Enlarged thalamic volume biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012694 UMLS:C4022772 An increase in the quantity of space occupied by the thalamus. HP:0011363 Abnormality of hair growth rate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011363 UMLS:C4023396 Abnormality of pace of hair growth|Abnormality of hair growth rate|Abnormality of speed of hair growth Hair whose growth rate deviates from the norm. HP:0011364 White hair biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011364 SNOMEDCT_US:297993006|UMLS:C0239804 White hair Hypopigmented hair that appears white. HP:0012695 Decreased thalamic volume biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012695 UMLS:C4022771 A reduction in the quantity of space occupied by the thalamus. HP:0009064 Generalized lipodystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009064 UMLS:C0221032|MSH:D052497|SNOMEDCT_US:284449005|SNOMEDCT_US:86907008 Generalised lipodystrophy|Lipodystrophy, generalized Generalized degenerative changes of the fat tissue. HP:0011365 Patchy hypopigmentation of hair biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011365 UMLS:C4023395 Reduced pigmentation of hair in patches. HP:0012696 Abnormal thalamic MRI signal intensity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012696 UMLS:C4022770 A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus. HP:0012697 Small basal ganglia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012697 UMLS:C4022769 Decreased size of the basal ganglia. HP:0011367 Yellow nails biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011367 SNOMEDCT_US:45342007|UMLS:C1768507 Yellow nails Yellowish discoloration of the nails. HP:0012698 Cerebellar gliosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012698 UMLS:C4022768 Focal proliferation of glial cells in the cerebellum. HP:0011368 Epidermal thickening biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011368 UMLS:C4020752|UMLS:C0494876 Abnormality of keratinization Thickening of the epidermal layer of the skin. HP:0012699 Anomaly of lower limb diaphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012699 UMLS:C4022767 Anomaly of shaft of long bone of lower limb A structural abnormality of a diaphysis of the leg. HP:0011369 Mongolian blue spot biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011369 MSH:D049328|UMLS:C0265985|SNOMEDCT_US:40467008 Congenital deep dermal melanosis in the sacral area. HP:0009060 Scapular muscle atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009060 UMLS:C3805969 Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle. HP:0010038 Short 2nd metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010038 UMLS:C1969397|UMLS:C4020774 Shortened 2nd long bone of hand|Hypoplastic 2nd metacarpal|Rudimentary 2nd metacarpal Short second metacarpal bone because of developmental hypoplasia. HP:0010037 Aplasia of the 2nd metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010037 UMLS:C4024090 Absent 2nd long bone of hand Absence of the second long bone of the hand. HP:0010036 Aplasia/Hypoplasia of the 2nd metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010036 UMLS:C4024091 Absent/underdeveloped 2nd long bone of hand|Absent/small 2nd long bone of hand Aplasia or Hypoplasia affecting the 2nd metacarpal. HP:0010035 Aplasia of the 1st metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010035 UMLS:C1838610 Absent 1st long bone of hand|Absent first metacarpal Absent first metacarpal (long bone) of the hand. HP:0010034 Short 1st metacarpal biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010034 UMLS:C1849311 Short first metacarpal|Shortened 1st long bone of hand|First metacarpals hypoplastic|Short first metacarpals|Hypoplastic 1st metacarpal|First metacarpal hypoplasia A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand. HP:0012690 T2 hypointense thalamus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012690 UMLS:C4022776 A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus. HP:0010033 Triangular shaped 1st metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010033 UMLS:C4024092 Triangular shaped 1st long bone of hand This term applies to a triangular shaped 1st metacarpal. HP:0011360 Acquired abnormal hair pattern biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011360 UMLS:C4023399 Acquired abnormal hair pattern An abnormality of the distribution of hair growth that is acquired during the course of life. HP:0012691 Focal T2 hypointense thalamic lesion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012691 UMLS:C4022775 A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus. HP:0010031 Patchy sclerosis of the 1st metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010031 UMLS:C4024093 Uneven increase in bone density in 1st long bone of hand Uneven increase in bone density within the 1st metacarpal. HP:0011361 Congenital abnormal hair pattern biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011361 UMLS:C4023398 Abnormal hair pattern since birth A congenital abnormality of the distribution of hair growth. HP:0012692 Focal T2 hyperintense thalamic lesion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012692 UMLS:C4022774 A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus. HP:0010039 Aplasia/Hypoplasia of the 3rd metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010039 UMLS:C4024089 Absent/underdeveloped 3rd long bone of hand|Absent/small 3rd long bone of hand Aplasia or Hypoplasia affecting the 3rd metacarpal. HP:0009059 Congenital generalized lipodystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009059 SNOMEDCT_US:86907008|SNOMEDCT_US:284449005|UMLS:C0221032|MSH:D052497 Congenital generalised lipodystrophy HP:0009056 Loss of subcutaneous adipose tissue from upper limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009056 UMLS:C4024602 Loss of fat tissue below the skin from upper limbs HP:0009055 Generalized limb muscle atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009055 UMLS:C1838114 Generalized muscle atrophy, proximal and distal|Generalised limb muscle atrophy|Generalized muscle wasting Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations. HP:0009058 Increased muscle lipid content biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009058 UMLS:C1837262 Increased muscle lipid content|Lipid accumulation in skeletal muscle|Muscle lipidosis|Fat accumulation in muscle fibers|Skeletal muscle lipid accumulation|Fat deposits in muscle fibers An abnormal accumulation of lipids in skeletal muscle. HP:0011351 Moderate receptive language delay biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011351 SNOMEDCT_US:89381000119107|UMLS:C3532946 A moderate delay in the acquisition of the ability to understand the speech of others. HP:0012682 Pineal gland calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012682 UMLS:C1398718 Accumulation of calcium salts in the pineal gland. HP:0011352 Severe receptive language delay biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011352 SNOMEDCT_US:89391000119105|UMLS:C3532947 A severe delay in the acquisition of the ability to understand the speech of others. HP:0012683 Pineal cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012683 UMLS:C1335411|SNOMEDCT_US:413099000 A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland. HP:0011353 Arterial intimal fibrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011353 UMLS:C4020753|UMLS:C4023403 Intimal fibrosis Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries. HP:0012684 Abnormal pineal volume biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012684 UMLS:C4022781 An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland. HP:0009031 Amyotrophy of ankle musculature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009031 UMLS:C4024604 Atrophy of the muscles of the ankle. HP:0011354 Generalized abnormality of skin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011354 UMLS:C4021157 Generalised abnormality of skin|Generalized abnormality of skin An abnormality of the skin that is not localized to any one particular region. HP:0012685 Decreased pineal volume biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012685 UMLS:C4022780 An abnormal reduction in the quantity of three-dimensional space taken up by the pineal gland. HP:0011355 Localized skin lesion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011355 UMLS:C0850826 Localised skin lesion|Localized skin lesion A lesion of the skin that is located in a specific region rather than being generalized. HP:0012686 Increased pineal volume biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012686 UMLS:C4022779 An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland. HP:0012687 Agenesis of pineal gland biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012687 UMLS:C3553078 Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present. HP:0011356 Regional abnormality of skin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011356 UMLS:C4023402 An abnormality of the skin that is restricted to a particular body region. HP:0011357 obsolete Abnormality of hair density biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011357 HP:0012688 Abnormality of pineal physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012688 UMLS:C4022778 A functional abnormality of the pineal gland. HP:0012689 Abnormal pineal melatonin secretion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012689 UMLS:C4022777 An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland. HP:0011358 Generalized hypopigmentation of hair biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011358 UMLS:C4023400 Generalised hypopigmentation of hair Reduced pigmentation of hair diffusely. HP:0010027 Broad 1st metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010027 UMLS:C4024097 Wide 1st long bone of hand Increased width of the 1st metacarpal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. HP:0010026 Aplasia/Hypoplasia of the 1st metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010026 UMLS:C4024098 Absent/underdeveloped 1st long bone of hand|Absent/small 1st long bone of hand 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). HP:0010025 Triangular epiphysis of the 1st metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010025 UMLS:C4024099 Triangular end part of the 1st long bone of hand HP:0010024 Epiphyseal stippling of the first metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010024 UMLS:C4021345 Stippling of the epiphysis of the 1st metacarpal|Speckled calcifications in the end part of the first long bone of hand The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the first metacarpal bone. HP:0010023 Small epiphysis of the 1st metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010023 UMLS:C4024100 Small end part of the 1st long bone of hand Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms. HP:0010022 Pseudoepiphysis of the 1st metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010022 UMLS:C4024101 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. HP:0012680 Abnormality of the pineal gland biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012680 UMLS:C4022783 An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin. HP:0010021 Ivory epiphysis of the 1st metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010021 UMLS:C4024102 Increased bone density of end part of the 1st long bone of hand The epiphysis of the 1st metacarpal are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. HP:0012681 Abnormality of pineal morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012681 UMLS:C4022782 A structural abnormality of the pineal gland. HP:0010020 Irregular epiphysis of the 1st metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010020 UMLS:C4024103 Irregular end part of the 1st long bone of hand Uneven radiographic opacity of the epiphysis of the 1st metacarpal. HP:0011350 Mild receptive language delay biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011350 SNOMEDCT_US:89501000119108|UMLS:C3532948 A mild delay in the acquisition of the ability to understand the speech of others. HP:0000692 Misalignment of teeth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000692 UMLS:C1852504|UMLS:C4280610 Abnormality of position of teeth|Abnormality of alignment of teeth|Malpositioned teeth|Malaligned teeth|Abnormality of teeth spacing|Crooked teeth|Misalignment of teeth|Abnormal teeth spacing|Abnormal dental position|Malposition of teeth Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth. HP:0000695 Natal tooth biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000695 UMLS:C0027443|SNOMEDCT_US:58748004|SNOMEDCT_US:21995002|MSH:D009306 Born with teeth|Neonatal teeth|Natal teeth|Teeth present at birth Erupted tooth or teeth at birth. HP:0000694 Shell teeth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000694 SNOMEDCT_US:67504007|UMLS:C2981132 Teeth with dentinal dysplasia|Teeth with type iii dentinogenesis imperfecta|Teeth with thin dentin and large pulp chambers A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin. HP:0000696 Delayed eruption of permanent teeth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000696 UMLS:C1849540 Delayed eruption of secondary teeth|Delayed eruption of permanent teeth|Delayed eruption of adult teeth|Delayed eruption of secondary dentition|Delayed permanent dentition Delayed tooth eruption affecting the secondary dentition. HP:0010029 Curved 1st metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010029 UMLS:C4024095 Curved 1st long bone of hand A deviation from the normal straight shape of the first metacarpal. HP:0000699 Diastema biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000699 SNOMEDCT_US:35591002|UMLS:C0011998|MSH:D003970 Diastema of the teeth|Gap between teeth|Gaps between teeth|Dental diastasis|Diastasis of the teeth|Dental diastema Increased space between two adjacent teeth in the same dental arch. HP:0000698 Conical tooth biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000698 SNOMEDCT_US:29553002|UMLS:C0266037|UMLS:C4012359 Peg-shaped teeth|Conical teeth|Peg tooth|Pointed tooth|Conoid tooth|Peg shaped teeth|Shark tooth|Peg shaped tooth|Cone shaped tooth An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally. HP:0010028 Bullet-shaped 1st metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010028 UMLS:C4024096 Bullet-shaped 1st long bone of hand The presence of short and wide 1st metacarpal which tapers distally ("bullet shaped"). HP:0009027 Foot dorsiflexor weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009027 UMLS:C1866141|SNOMEDCT_US:6077001|UMLS:C0085684 Foot extensor weakness|Footdrop|Foot drop Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles. HP:0011359 Dry hair biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011359 UMLS:C0277960|SNOMEDCT_US:79395009 Dry hair Hair that lacks the lustre (shine or gleam) of normal hair. HP:0009026 Hypoplasia of latissimus dorsi muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009026 UMLS:C3805860 Underdevelopment of the latissimus dorsi muscle, which is involved in adduction, extension, internal rotation, and transverse extension of the shoulder and assists in movement of the scapula. HP:0009028 Generalized weakness of limb muscles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009028 UMLS:C4024605 Generalised weakness of limb muscles Generalized weakness of the muscles of the arms and legs. HP:0009023 Abdominal wall muscle weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009023 UMLS:C4021527 Lax abdominal musculature Decreased strength of the abdominal musculature. HP:0000691 Microdontia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000691 UMLS:C0240340|UMLS:C4280612|SNOMEDCT_US:32337007|UMLS:C4280611 Small teeth|Decreased width of tooth|Hypotrophic tooth|Decreased size of tooth|Small tooth Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. HP:0009025 Increased connective tissue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009025 UMLS:C1866021 The presence of an abnormally increased amount of connective tissue. HP:0000690 Agenesis of maxillary lateral incisor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000690 UMLS:C1849950|UMLS:C4083046 Failure of development of maxillary lateral incisor|Absent upper lateral incisors|Absence of maxillary lateral incisor|Missing upper lateral incisor|Absence of upper lateral incisor|Missing maxillary lateral incisor Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor. HP:0011340 Incomplete cleft of the upper lip biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011340 UMLS:C4021158 Notched cleft of the upper lip|Incomplete cheiloschisis|Incomplete cleft of the upper lip|Partial cleft of the upper lip|Forme fruste unilateral cleft lip A subtle unilateral cleft of the upper lip, which may appear as a small indentation. HP:0012671 Abulia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012671 UMLS:C0919974 Aboulia Poverty of behavior and speech output, lack of initiative, loss of emotional responses, psychomotor slowing, and prolonged speech latency. HP:0011341 Long upper lip biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011341 UMLS:C3151495 Increased vertical length of upper lip|Long upper lip|Elongation of upper lip|Increased height of upper lip Increased width of the upper lip. HP:0012672 Akinetic mutism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012672 SNOMEDCT_US:53333005|MSH:D000405|UMLS:C0001889 Akinetic mutism is essentially characterized by a total absence of spontaneous behavior and speech occurring in the presence of preserved visual tracking. HP:0011342 Mild global developmental delay biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011342 UMLS:C2229182|UMLS:C4012968 Global developmental delay, mild|Psychomotor retardation, mild A mild delay in the achievement of motor or mental milestones in the domains of development of a child. HP:0012673 Aplasia of the upper vagina biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012673 UMLS:C4022788 Absent upper vagina A failure to develop of the upper vagina. HP:0011343 Moderate global developmental delay biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011343 UMLS:C2237142 Psychomotor retardation, moderate|Global developmental delay, moderate A moderate delay in the achievement of motor or mental milestones in the domains of development of a child. HP:0012674 Aplasia of the lower vagina biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012674 SNOMEDCT_US:253834007|UMLS:C0431646 Agenesis of the lower vagina|Absent lower vagina A failure to develop of the lower part of the vagina. HP:0009042 Marked muscular hypertrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009042 UMLS:C1846013 Severe hypertrophy (increase in size) of muscle cells. HP:0011344 Severe global developmental delay biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011344 UMLS:C1854919|UMLS:C1837397 Severe psychomotor retardation|Global developmental delay, severe A severe delay in the achievement of motor or mental milestones in the domains of development of a child. HP:0012675 Iron accumulation in brain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012675 UMLS:C4021076 Iron accumulation in brain|Brain iron deposition An abnormal build up of iron (Fe) in brain tissue. HP:0012676 Copper accumulation in brain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012676 UMLS:C4022787 Brain copper accumulation|Copper accumulation in brain An anomalous build up of copper (Cu) in the brain. HP:0011345 Moderate expressive language delay biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011345 UMLS:C3532933|SNOMEDCT_US:62211000119103 A moderate delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. HP:0012677 Iron accumulation in globus pallidus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012677 UMLS:C4022786 An abnormal build up of iron (Fe) in the globus pallidus. HP:0011346 Mild expressive language delay biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011346 SNOMEDCT_US:62231000119108|UMLS:C3532934 A mild delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. HP:0012678 Iron accumulation in substantia nigra biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012678 UMLS:C4022785 An anomalous build up of iron (Fe) in the substantia nigra. HP:0011347 Abnormality of ocular abduction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011347 UMLS:C4023405 An abnormality involving the movement of the eye outwards. HP:0010016 Bracket epiphysis of the 1st metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010016 UMLS:C4024107 Bracket shaped end part of 1st long bone of hand An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter 'C' and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate. HP:0010015 Absent epiphysis of the 1st metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010015 UMLS:C4024108 Absent end part of the 1st long bone of hand HP:0010014 Abnormality of the epiphysis of the 1st metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010014 UMLS:C4024109 Abnormality of the end part 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). 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. HP:0010013 Abnormality of the 5th metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010013 UMLS:C4024110 Abnormality of the 5th long bone of hand Any abnormality of the fifth metacarpal bone. HP:0010012 Abnormality of the 4th metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010012 UMLS:C4024111 Abnormality of the 4th long bone of hand Any abnormality of the fourth metacarpal bone. HP:0010011 Abnormality of the 3rd metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010011 UMLS:C4024112 Abnormality of the 3rd long bone of hand Any abnormality of the third metacarpal bone. HP:0010010 Abnormality of the 2nd metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010010 UMLS:C4024113 Abnormality of the 2nd long bone of hand Any abnormality of the second metacarpal bone. HP:0012670 Orthostatic syncope biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012670 UMLS:C0749201 Syncope following a quick change in position from lying down to standing. HP:0010019 Fragmentation of the epiphysis of the 1st metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010019 UMLS:C4024104 Fragmentation of the end part of the 1st long bone of hand Epiphysis of the 1st metacarpal having multiple bony fragments. HP:0010018 Enlarged epiphysis of the 1st metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010018 UMLS:C4024105 Enlarged end part of the 1st long bone of hand Abnormally large size of the epiphyses of the 1st metacarpal with respect to age-dependent norms. HP:0010017 Cone-shaped epiphysis of the 1st metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010017 UMLS:C4024106 Cone-shaped end part of the 1st long bone of hand A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a 'ball-in-a-socket' appearance. HP:0011348 Abnormality of the sixth cranial nerve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011348 UMLS:C4023404 An abnormality of the abducens nerve. HP:0012679 Widened interpedicular distance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012679 UMLS:C4022784 An increase in the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces. HP:0009037 Segmental spinal muscular atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009037 UMLS:C1866774|MSH:C566670 HP:0011349 Abducens palsy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011349 SNOMEDCT_US:398963001|MSH:D020434|UMLS:C0271355|SNOMEDCT_US:398760006|SNOMEDCT_US:398925009|MSH:C564661 Sixth nerve palsy Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. HP:0010085 Aplasia/Hypoplasia of the proximal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010085 UMLS:C4024061 Absent/small innermost big toe bone|Absent/underdeveloped innermost big toe bone HP:0010084 Duplication of the distal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010084 UMLS:C4021339 Duplication of the outermost bone of big toe|Partial/complete duplication of the distal phalanx of the hallux HP:0009098 Chronic oral candidiasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009098 UMLS:C4024599 Chronic oral thrush Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx. HP:0010083 Triangular shaped distal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010083 UMLS:C4024062 Triangular shaped outermost bone of the big toe HP:0010082 Symphalangism affecting the distal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010082 UMLS:C4024063 Fused outermost bone of big toe HP:0009092 Progressive alveolar ridge hypertropy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009092 UMLS:C4280407|UMLS:C1854934 Progressive hypertrophy of alveolar process of jaw|Increasing size of gum ridge|Increasing overgrowth of gum ridge HP:0010081 Patchy sclerosis of the distal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010081 UMLS:C4024064 Uneven increase in bone density in the outermost bone of big toe HP:0010080 Osteolytic defects of the distal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010080 UMLS:C4024065 HP:0009094 Cleft lower alveolar ridge biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009094 UMLS:C1849350|UMLS:C4280404|UMLS:C4280406|UMLS:C4280405 Cleft of lower gum ridge|Cleft of lower gingiva|Cleft of mandibular gingiva|Notch of lower alveolar process|Notch of mandibular alveolar process|Notch of lower alveolar ridge|Notch of lower gum ridge|Notch of mandibular alveolar ridge|Cleft of lower alveolar process|Cleft of mandibular alveolar process HP:0009090 obsolete Facial diplegic appearance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009090 HP:0010089 Osteolytic defects of the proximal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010089 UMLS:C4024058 HP:0010088 Curved proximal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010088 UMLS:C4024059 Curved innermost bone of the big toe A deviation from the normal straight form of the proximal phalanx of the big toe. HP:0010087 Bullet-shaped proximal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010087 UMLS:C4024060 Bullet-shaped innermost bone of the big toe An abnormal morphology of the proximal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. HP:0010086 Broad proximal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010086 UMLS:C4021338 Broad innermost bone of the big toe|Broad proximal phalanx of the big toe Increased width of proximal phalanx of big toe. HP:0009088 Speech articulation difficulties biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009088 UMLS:C1865313 Impairment in the physical production of speech sounds. HP:0010074 Triangular shaped 1st metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010074 UMLS:C4024070 Triangular shaped 1st long bone of foot HP:0010073 Synostosis involving the 1st metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010073 UMLS:C4024071 Fusion involving the 1st long bone of foot HP:0010072 Patchy sclerosis of the 1st metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010072 UMLS:C4024072 Uneven increase in bone density of the 1st long bone of foot HP:0010071 Osteolytic defects of the 1st metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010071 UMLS:C4024073 Dissolution or degeneration of bone tissue of the first metatarsal. HP:0010070 Curved 1st metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010070 UMLS:C4024074 Curved 1st long bone of foot A deviation from the normal straight shape of a proximal phalanx of the 1st metatarsal bone. HP:0010079 Curved distal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010079 UMLS:C4024066 Curved outermost bone of big toe A deviation from the normal straight form of the distal phalanx of the big toe. HP:0010078 Bullet-shaped distal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010078 UMLS:C4024067 Bullet-shaped outermost bone of big toe 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. HP:0010077 Broad distal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010077 UMLS:C4024068 Wide outermost bone of big toe|Broad outermost bone of big toe An increase in width of the distal phalanx of the big toe. HP:0010076 Aplasia/Hypoplasia of the distal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010076 UMLS:C4024069 Absent/small outermost big toe bone|Absent/underdeveloped outermost big toe bone HP:0010075 Duplication of the 1st metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010075 UMLS:C1851855 Duplicated 1st long bone of foot|Duplicated first metatarsals A developmental defect consisting in the duplication of the first metatarsal bone. HP:0009099 Median cleft palate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009099 UMLS:C1850968 Midline cleft palate|Central cleft palate Cleft palate of the midline of the palate. HP:0010063 Patchy sclerosis of hallux phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010063 UMLS:C4021340 Patchy sclerosis of the phalanges of the hallux|Uneven increase in bone density in big toe bone 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. HP:0011395 Aplasia/Hypoplasia of the cochlea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011395 UMLS:C4023378 Absent/small cochlea|Absent/underdeveloped cochlea Absence or underdevelopment of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect. HP:0010062 Osteolytic defects of the phalanges of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010062 UMLS:C4024078 HP:0009073 Progressive proximal muscle weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009073 UMLS:C1836156 Muscle weakness, progressive, proximal Lack of strength of the proximal muscles that becomes progressively more severe. HP:0011396 Abnormality of the cochlear nerve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011396 UMLS:C4023377 HP:0010061 Curved hallux phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010061 UMLS:C4021341 Curve bones of big toe|Curved phalanges of the hallux A deviation from the normal straight form of one or more phalanges of the big toe. HP:0011397 Abnormality of the dorsal column of the spinal cord biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011397 UMLS:C4023376 An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus. HP:0010060 Bullet-shaped hallux phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010060 UMLS:C4021342 Bullet-shaped bone of big toe|Bullet-shaped phalanges of the hallux An abnormal morphology of one or more phalanges of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. HP:0011398 obsolete Central hypotonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011398 HP:0011399 Tibialis atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011399 UMLS:C4023375 Tibialis muscle degeneration Atrophy of the tibialis muscle. HP:0009072 Decreased Achilles reflex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009072 UMLS:C1837323 Hyporeflexia at ankle joints Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed. HP:0009071 Inflammatory myopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009071 MSH:D009220|UMLS:C0027121|SNOMEDCT_US:26889001|SNOMEDCT_US:128496001 Chronic muscle inflammation accompanied by muscle weakness. HP:0410209 Folate deficiency in CSF biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410209 Folate deficiency in cerebrospinal fluid A reduced concentration of folic acid, which is also known as vitamin B9 in the cerebrospinal fluid. HP:0010069 Bullet-shaped 1st metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010069 UMLS:C4024075 Bullet-shaped 1st long bone of foot An abnormal morphology of the firstmetatarsal bone, which is short and wide and tapers distally, and lacks the normal diaphyseal constriction. HP:0010068 Broad first metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010068 UMLS:C1855899 Enlarged first metatarsal|Broad 1st metatarsal|Wide 1st long bone of foot Increased side-to-side width of the first metatarsal bone. HP:0011390 Morphological abnormality of the inner ear biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011390 UMLS:C4023381 A structural anomaly of the internal part of the ear. HP:0410208 Positive plasma/serum cotinine test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410208 Detection of cotinine, an alkaloid found in tobacco and the predominant metabolite of nicotine, in plasma or serum. HP:0010067 Aplasia/hypoplasia of the 1st metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010067 UMLS:C4024076 Absent/small 1st long bone of foot|Absent/underdeveloped 1st long bone of foot Absence or underdevelopment of the first metatarsal bone. HP:0011391 Morphological abnormality of the nerves of the inner ear biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011391 UMLS:C4023380 HP:0010066 Duplication of phalanx of hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010066 UMLS:C4020691|UMLS:C1860164 Duplication of big toe bone|Duplicated hallux|Duplication of great toes|Partial/complete duplication of the phalanges of the hallux|Hallucal duplication|Duplication of phalanx of big toe Partial or complete duplication of one or more phalanx of big toe. HP:0011392 Abnormality of the vestibular nerve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011392 UMLS:C4023379 HP:0011393 Aplasia of the vestibular nerve. biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011393 UMLS:C4020751|UMLS:C4021153 Aplasia of cranial nerve VIII|Absent the eighth cranial nerve|Absent cranial nerve viii|Absent vestribular nerve|Aplasia of the eighth cranial nerve Absence of the vestibular nerve HP:0010065 Triangular shaped phalanges of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010065 UMLS:C4024077 Triangular shaped bones of big toe HP:0010064 Symphalangism affecting the phalanges of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010064 UMLS:C1836216 Fused big toe bones|hallucal symphalangism HP:0011394 Hypoplasia of the vestibular nerve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011394 UMLS:C4020750 Hypoplasia of the eighth cranial nerve|Hypoplasia of cranial nerve VIII|Thin vestibular nerve Underdevelopment of the vestibular nerve. HP:0410203 Positive gastric fluid barbiturate test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410203 Detection of barbiturate metabolites such as phenobarbital in the gastric fluid. HP:0410202 Positive stool barbiturate test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410202 Detection of barbiturate metabolites such as phenobarbital in the stool. HP:0410201 Positive hair barbiturate test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410201 Detection of barbiturate metabolites such as phenobarbital in the hair. HP:0410200 Positive meconium barbiturate test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410200 Detection of barbiturate metabolites such as phenobarbital in meconium. HP:0410207 Positive methadone plasma/serum test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410207 Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in plasma or serum. HP:0410206 Increased circulating nicotinurate level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410206 Increased circulating N-nicotinoylglycine level An increased amount of nicotinurate in the blood. HP:0410205 Abnormal circulating nicotinurate concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410205 Abnormal circulating N-nicotinoylglycine level|Abnormal circulating nicotinurate level Any deviation from the normal concentration of nicotinurate in the blood. HP:0410204 Increased intestinal transit time biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410204 An increase in the length of time required for food to pass through the intestines. HP:0009067 Progressive spinal muscular atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009067 UMLS:C4082951 Progressive spinal muscle wasting|Progressive spinal muscle degeneration Progressive spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. HP:0009069 Lethal infantile mitochondrial myopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009069 MSH:C564017|UMLS:C1838876 HP:0009085 Alveolar ridge overgrowth biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0009085 UMLS:C1856164|UMLS:C1865598 Thick alveolar ridges|Overgrowth of gum ridge|Thickened alveolar ridges|Increased size of alveolar ridge|Hypertrophied alveolar ridge|Alveolar ridge excess|Overgrowth of alveolar ridge|Hyperplasia of alveolar ridge|Hyperplasia of alveolar process of jaw|Increased size of gum ridge|Enlarged alveolar ridge Increased width of the alveolar ridges. HP:0010052 Abnormal morphology of the proximal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010052 UMLS:C4024084 Abnormal innermost big toe bone|Abnormality of the proximal phalanx of the hallux An abnormal shape or form of the proximal phalanx of the big toe. HP:0011384 Abnormality of the internal auditory canal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011384 UMLS:C4021155 Abnormality of the internal acoustic meatus An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse. HP:0011385 Absent internal auditory canal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011385 UMLS:C4023384 Aplasia of the internal auditory canal. HP:0009084 Midline notch of upper alveolar ridge biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009084 UMLS:C1851853 Midline cleft of maxillary alveolar process|Midline notch of upper gum ridge|Midline notch of maxillary alveolar process|Midline notch of maxillary alveolar ridge|Midline cleft of upper alveolar ridge HP:0010051 Deviation of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010051 UMLS:C4021344 Displacement of the hallux|Displacement of big toe Displacement of the big toe from its normal position. HP:0009087 Posteriorly placed tongue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009087 UMLS:C4024600 Posteriorly placed tongue HP:0011386 Narrow internal auditory canal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011386 UMLS:C4023383 Reduction in diameter of the internal auditory canal. HP:0011387 Enlarged vestibular aqueduct biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011387 MSH:C566366|UMLS:C1863752 Widened vestibular aqueduct|Dilated vestibular aqueduct Increased size of the vestibular aqueduct. HP:0011388 Enlarged cochlear aqueduct biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011388 UMLS:C4021154 Dilated cochlear aqueduct Increased size of the cochlear duct, i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular. HP:0011389 Functional abnormality of the inner ear biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011389 UMLS:C4023382 Functional abnormality of the inner ear An abnormality of the function of the inner ear. HP:0010059 Broad hallux phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010059 UMLS:C4021343 Wide bone of big toe|Broad bone of big toe|Broad phalanges of the hallux An increase in width in one or more phalanges of the big toe. HP:0010058 Aplasia/Hypoplasia of the phalanges of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010058 UMLS:C4024079 Absent/underdeveloped big toe bone|Absent/small big toe bone HP:0010057 Abnormality of the phalanges of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010057 UMLS:C4024080 Abnormal big toe bones HP:0010056 Abnormality of the epiphyses of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010056 UMLS:C4024081 Abnormality of the end part of the big toe bone HP:0011380 Morphological abnormality of the semicircular canal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011380 UMLS:C4023386 An abnormality of the morphology of the semicircular canal. HP:0010055 Broad hallux biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0010055 UMLS:C1867131 Broad halluces|Broad great toes|Wide big toe|Abnormally broad great toes|Broad big toe|Broad great toe Visible increase in width of the hallux without an increase in the dorso-ventral dimension. HP:0011381 Aplasia of the semicircular canal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011381 UMLS:C4023385 Absent semicircular canal Absence of the semicircular canal. HP:0011382 Hypoplasia of the semicircular canal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011382 UMLS:C3552156 Small semicircular canal|Hypoplasia of the semicircular canals Underdevelopment of the semicircular canal. HP:0010054 Abnormality of the first metatarsal bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010054 UMLS:C4024082 Abnormality of the 1st long bone of foot An anomaly of the first metatarsal bone. HP:0010053 Abnormality of the distal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0010053 UMLS:C4024083 Abnormality of the outermost bone of the big toe HP:0011383 Enlarged semicircular canal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011383 UMLS:C4021156 Dilated semicircular canal Increased size of the semicircular canal. HP:0009077 Weakness of long finger extensor muscles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0009077 UMLS:C4024601 HP:0001726 obsolete Increased prevalence of valvular disease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001726 HP:0001723 Restrictive cardiomyopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001723 UMLS:C0007196|MSH:D002313|SNOMEDCT_US:415295002|SNOMEDCT_US:90828009 Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness. HP:0001724 obsolete Aortic dilatation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001724 HP:0001727 Thromboembolic stroke biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001727 UMLS:C1112433 A cerebrovascular accident (stroke) that occurs because of thromboembolism. HP:0410346 Increased urinary galactosylated oligosaccharide biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410346 Increased concentration of galactosylated oligosaccharides in urine An abnormal increase in the concentration of galactosylated oligosaccharides in urine. HP:0410345 Increased urinary polyhexose biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410345 Increased polyhexose concentration in urine An abnormal increase in the concentration of polyhexose in the urine. HP:0410344 Shortened O-fucosylated glycan on properdin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410344 Presence of terminal O-fucose glycans on properdin Decreased length of O-fucosylated glycans present on properdin. HP:0410343 Decreased circulating heparan sulfate level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410343 Decreased circulating heparan sulphate level|Decreased blood heparan sulfate concentration An abnormal decrease in the concentration of heparan sulfate in the blood. HP:0410349 Decreased glycosyltransferase O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410349 An abnormal decrease in glycosyltransferase O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase enzymatic level. HP:0001722 High-output congestive heart failure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001722 UMLS:C0742747 A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others. HP:0410348 Increased urinary multiantennary sialylated oligosaccharide biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410348 Increase concentration of multiantennary sialylated oligosaccharides in urine An abnormal increase in the concentration of multiantennary sialylated oligosaccharides in the urine. HP:0410347 Increased urinary high-mannose-type oligosaccharide biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410347 Increased concentration of high-mannose-type oligosaccharides in urine An abnormal increase in the concentration of high-mannose-type oligosaccharides in the urine. HP:0410342 Increased circulating heparan sulfate level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410342 Increased circulating heparan sulphate level|Increased blood heparan sulfate concentration An abnormal increase in the concentration of heparan sulfate in the blood. HP:0410341 Abnormal circulating heparan sulfate level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410341 Abnormality of the concentration of heparan sulfate in the blood|Abnormal circulating heparan sulphate level An abnormal level of heparan sulfate in the blood. HP:0410340 Focal epithelial hyperplasia of oral mucosa biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410340 Focal epithelial hyperplasia of the lining of mouth|Oral mucosa epithelial hyperplasia The occurrence of multiple or unique whitish or normal in color small papules or nodules in oral cavity, especially on labial and buccal mucosa, lower lip and tongue, and less often on the upper lip, gingiva and palate. HP:0000403 Recurrent otitis media biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000403 UMLS:C0747085 Recurrent middle ear infection|Multiple episodes of otitis media|Susceptibility to otitis media|Recurrent episodes of otitis media|Frequent otitis media|Otitis media, recurrent Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. HP:0001737 Pancreatic cysts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001737 SNOMEDCT_US:31258000|MSH:D010181|UMLS:C1860394|UMLS:C0030283 Pancreatic cysts|Multiple pancreatic cysts|Pancreatic cyst A cyst of the pancreas that possess a lining of mucous epithelium. HP:0001734 Annular pancreas biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001734 MSH:C536376|SNOMEDCT_US:40315008|UMLS:C0149955 A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum. HP:0001735 Acute pancreatitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001735 UMLS:C0001339|SNOMEDCT_US:197456007 Pancreatitis, acute|Acute pancreatic inflammation A acute form of pancreatitis. HP:0000405 Conductive hearing impairment biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000405 MSH:D006314|UMLS:C0018777|SNOMEDCT_US:44057004 Conductive deafness|Hearing loss, conductive|Conductive hearing loss|Conduction deafness An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. HP:0000408 Progressive sensorineural hearing impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000408 UMLS:C1843156 Hearing loss, sensorineural, progressive|Sensorineural hearing loss, progressive|Bilateral progressive sensorineural hearing loss|Hearing loss, progressive sensorineural|Progressive bilateral sensorineural hearing loss|Hearing loss, sensorineural, bilateral, progressive A progressive form of sensorineural hearing impairment. HP:0000407 Sensorineural hearing impairment biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000407 UMLS:C0018784|SNOMEDCT_US:60700002|MSH:D006319 Sensorineural hearing loss|Sensorineural deafness|Hearing loss, sensorineural A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. HP:0001738 Exocrine pancreatic insufficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001738 UMLS:C0030293|UMLS:C0267963|MSH:D010188|SNOMEDCT_US:47367009|SNOMEDCT_US:37992001 Pancreatic insufficiency|Inability to properly digest food due to lack of pancreatic digestive enzymes Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes. HP:0001739 Abnormal nasopharynx morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001739 UMLS:C4025750 Abnormality of the nasopharynx A structural anomaly of the nasopharynx. HP:0410335 Insect allergy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410335 IgE-mediated insect allergy|Insect allergy|Allergy to insects|Immunoglobulin E-mediated insect allergy Hypersensitivity in form of an adverse immune reaction against insects. HP:0410334 Fungi allergy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410334 Fungus allergy|Allergy to fungi|Immunoglobulin E-mediated fungi allergy|Fungi allergy|IgE-mediated fungi allergy|Fungal allergy Hypersensitivity in form of an adverse immune reaction against fungus. HP:0410333 Seafood allergy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410333 Immunoglobulin E-mediated seafood allergy|Seafood allergy|IgE-mediated seafood allergy|Allergy to seafood Hypersensitivity in form of an adverse immune reaction against seafood. HP:0410332 Plant based food allergy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410332 IgE-mediated plant based food allergen allergy|Plant based food allergy|Allergy to plant based food allergens|Immunoglobulin E-mediated plant based food allergen allergy Hypersensitivity in form of an adverse immune reaction against plant based food allergens. HP:0000400 Macrotia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000400 SNOMEDCT_US:69056000|UMLS:C1850189|UMLS:C0554972|UMLS:C1860838|SNOMEDCT_US:275480001|UMLS:C1848570|UMLS:C1855062|UMLS:C1835581|UMLS:C0152421 Large pinnae|Large ears Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective). HP:0001732 Abnormality of the pancreas biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001732 MSH:D010182|SNOMEDCT_US:3855007|UMLS:C4025751|UMLS:C0030286 Pancreatic disease|Abnormality of the pancreas An abnormality of the pancreas. HP:0410339 Insect bite allergy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410339 Immunoglobulin E-mediated insect bite allergy|Insect bite allergy|IgE-mediated insect bite allergy|Allergy to insect bites Hypersensitivity in form of an adverse immune reaction against insect bites. HP:0410338 Plant product allergy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410338 Allergy to plant products|Plant product allergy|Immunoglobulin E-mediated plant product allergy|IgE-mediated plant product allergy Hypersensitivity in form of an adverse immune reaction against plant products. HP:0001733 Pancreatitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001733 SNOMEDCT_US:75694006|UMLS:C0030305|MSH:D010195 Pancreatic inflammation The presence of inflammation in the pancreas. HP:0000402 Stenosis of the external auditory canal biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000402 SNOMEDCT_US:300127002|SNOMEDCT_US:301061006|UMLS:C0395837|UMLS:C0576860 Narrow ear canal|Narrow external auditory meatus|Narrow external auditory canals|External auditory canal stenosis|Narrow auditory canals|Stenotic external auditory canal|Narrowing of passageway from outer ear to middle ear An abnormal narrowing of the external auditory canal. HP:0410337 Parasite allergy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410337 Parasite allergy|Immunoglobulin E-mediated parasite allergy|Allergy to parasites|IgE-mediated parasite allergy Hypersensitivity in form of an adverse immune reaction against parasites. HP:0001730 Progressive hearing impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001730 UMLS:C1842138 Progressive hearing loss A progressive form of hearing impairment. HP:0410336 Venom allergy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410336 Allergy to venom|Venom allergy|Immunoglobulin E-mediated venom allergy|IgE-mediated venom allergy Hypersensitivity in form of an adverse immune reaction against insect venom. HP:0410331 Nut food product allergy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410331 Nut food product allergy|IgE-mediated nut food product allergy|Allergy to nut food products|Immunoglobulin E-mediated nut food product allergy|Nut allergy Hypersensitivity in form of an adverse immune reaction against nut food products. HP:0410330 Meat allergen allergy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410330 Allergy to meat allergens|Meat allergy|Immunoglobulin E-mediated meat allergen allergy|Meat allergen allergy|IgE-mediated meat allergen allergy Hypersensitivity in form of an adverse immune reaction against allergens contained in meat products. HP:0001709 Third degree atrioventricular block biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001709 SNOMEDCT_US:27885002|UMLS:C0151517 Complete heart block|Third-degree heart block Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them. HP:0001704 Tricuspid valve prolapse biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001704 SNOMEDCT_US:253383003|Fyler:1733|UMLS:C0040962|MSH:D014263 One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle. HP:0001701 Pericarditis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001701 SNOMEDCT_US:3238004|UMLS:C0031046|MSH:D010493 Swelling or irritation of membrane around heart Inflammation of the sac-like covering around the heart (pericardium). HP:0001702 Abnormal tricuspid valve morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001702 UMLS:C4025753|EPCC:06.01.00 Abnormality of the tricuspid valve Any structural anomaly of the tricuspid valve. HP:0001707 Abnormal right ventricle morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001707 UMLS:C0344887|SNOMEDCT_US:253516002|Fyler:1820 Abnormality of the right ventricle|Right ventricular abnormality An abnormality of the right ventricle of the heart. HP:0001708 Right ventricular failure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001708 MSH:D006333|SNOMEDCT_US:128404006|SNOMEDCT_US:367363000|UMLS:C2939447|UMLS:C0235527 Right ventricular impairment|Right-sided heart failure|Impaired right ventricular function 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. HP:0001705 Right ventricular outlet tract obstruction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001705 MSH:D014694|UMLS:C0035619 Right ventricular outlet obstruction An obstruction to the forward flow of blood in the outflow tract of the right ventricle. HP:0001706 Endocardial fibroelastosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001706 SNOMEDCT_US:65457005|UMLS:C0014117|MSH:D004695 Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction HP:0410368 Increased globoside Gb3 level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410368 Increased globoside Gb3 concentration An abnormal increase in the concentration of glycolipid globoside Gb3. HP:0410367 Increased hepatitis A virus antibody level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410367 An abnormally increased level of immunoglobulin against hepatitis A virus in the blood. HP:0410366 Increased globoside Gb4 level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410366 Increased globoside Gb4 concentration An abnormal increase in the concentration of globoside Gb4. HP:0410365 Increased disialylated core 1 O-glycan level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410365 Increased disialyl T-antigen concentration An abnormal increase in the concentration of disialylated core 1 O-glycans on glycoproteins. HP:0001700 Myocardial necrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001700 SNOMEDCT_US:251061000|UMLS:C1442837 Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction). HP:0410369 Increased hepatitis B virus antibody level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410369 An abnormally increased level of immunoglobulin against hepatitis B virus in the blood. HP:0410360 Increased core 1 O-glycan level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410360 Increased T-antigen concentration An abnormal increase in the concentration of core 1 O-glycans on glycoproteins. HP:0410364 Decreased monosialylated core 1 O-glycan level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410364 Decreased sialyl T-antigen concentration An abnormal decrease in the concentration of monosialylated core 1 O-glycans on glycoproteins. HP:0410363 Increased monosialylated core 1 O-glycan level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410363 Increased sialyl T-antigen concentration An abnormal increase in the concentration of monosialylated core 1 O-glycans on glycoproteins. HP:0410362 Decreased O-mannosyl glycans on alpha-dystroglycan biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410362 Reduced 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. HP:0410361 Decreased core 1 O-glycan level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410361 Decreased T-antigen concentration An abnormal decrease in the concentration of core 1 O-glycans on glycoproteins. HP:0001714 Ventricular hypertrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001714 UMLS:C0340279|SNOMEDCT_US:266249003 Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy. HP:0001712 Left ventricular hypertrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001712 UMLS:C0149721|Fyler:3608|MSH:D017379|SNOMEDCT_US:55827005 Heart left ventricle hypertrophy|Left ventricular wall hypertrophy Enlargement or increased size of the heart left ventricle. HP:0001713 Abnormal cardiac ventricle morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001713 UMLS:C4025752 Abnormality of cardiac ventricle An abnormality of a cardiac ventricle. HP:0001718 Mitral stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001718 MSH:D008946|SNOMEDCT_US:79619009|ICD-10:Q23.2|UMLS:C0026269|EPCC:06.02.92|Fyler:1511 Mitral valve stenosis An abnormal narrowing of the orifice of the mitral valve. HP:0001719 Double outlet right ventricle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001719 SNOMEDCT_US:7484005|Fyler:600|MSH:D004310|UMLS:C0013069|Fyler:606 DORV|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. HP:0001716 Wolff-Parkinson-White syndrome biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001716 UMLS:C0043202|SNOMEDCT_US:74390002|MSH:D014927 A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway. HP:0001717 Coronary artery calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001717 SNOMEDCT_US:445512009|UMLS:C1611184 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery. HP:0410357 Increased high-mannose N-glycan level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410357 Increased high-mannose N-glycans on glycoprotein concentration An abnormal increase in the concentration of high-mannose N-glycans on glycoproteins. HP:0410356 Abnormal high-mannose N-glycan level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410356 Abnormal high-mannose N-glycans on glycoprotein concentration An abnormal concentration of high-mannose N-glycans on glycoproteins. HP:0410355 Decreased sialylated N-glycan level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410355 Decreased concentration of sialylated N-glycans on glycoproteins An abnormal decrease in the concentration of sialylated N-glycans on glycoproteins. HP:0410354 Increased sialylated N-glycan level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410354 Increased concentration of sialylated N-glycans on glycoproteins An abnormal increase in the concentration of sialylated N-glycans on glycoproteins. HP:0001710 Conotruncal defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001710 UMLS:C1853238 Conotruncal heart defects 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. HP:0001711 Abnormal left ventricle morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001711 UMLS:C0344905|Fyler:1810|SNOMEDCT_US:253535002 Abnormality of the left ventricle|Left ventricular abnormality|Abnormal heart left ventricle morphology Any structural abnormality of the left ventricle of the heart. HP:0410359 Abnormal core 1 O-glycan level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410359 Abnormal concentration of T-antigen An abnormal in the concentration of core 1 O-glycans on glycoproteins. HP:0410358 Decreased high-mannose N-glycan level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410358 An abnormal decrease in the concentration of high-mannose N-glycans on glycoproteins.|Decreased high-mannose N-glycans on glycoprotein concentration HP:0410353 Decreased complex N-glycan level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410353 Increased truncated complex N-glycans on glycoproteins An abnormal decrease in the concentration of complex N-glycans on glycoproteins. HP:0410352 Increased complex N-glycan level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410352 Increased concentration of complex N-glycans on glycoproteins An abnormal increase in the concentration of complex N-glycans on glycoproteins. HP:0410351 Abnormal complex N-glycan level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410351 Abnormal concentration of complex N-glycans on glycoproteins An abnormal concentration of complex N-glycans on glycoproteins. HP:0410350 Increased urinary fucosylated oligosaccharide biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410350 Increased concentration of fucosylated oligosaccharides in urine An abnormal increase in the concentrationl of small fucosylated oligosaccharides in the urine. HP:0012420 Meconium stained amniotic fluid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012420 SNOMEDCT_US:168092006|UMLS:C0426209|SNOMEDCT_US:249135009 Meconium staining of amniotic fluid|Meconium-stained amniotic fluid Amniotic fluid containing the earliest stools of a mammalian infant. HP:0012421 Congenital absence of foreskin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012421 UMLS:C0577242|SNOMEDCT_US:300519001 Absent foreskin|Aposthia Congenital lack of the skin of prepuce of penis, that is, of the double-layered fold of skin and mucous membrane that covers the glans penis. HP:0012422 Villous hypertrophy of choroid plexus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012422 UMLS:C4020728|UMLS:C4021089 Diffuse villous hypertrophy of choroid plexus|Choroid plexus hypertrophy Overgrowth of the choroid plexus. HP:0012423 Colonic inertia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012423 UMLS:C1257861|MSH:D003248 The inability of the colon to modify stool to an acceptable consistency and move the stool from the cecum to the rectosigmoid area at least once every three days. HP:0012424 Chorioretinitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012424 SNOMEDCT_US:46627006|UMLS:C0008513|MSH:D002825 An inflammation of the choroid and retina. HP:0012425 Stercoral ulcer biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012425 SNOMEDCT_US:46040000|SNOMEDCT_US:38084005|UMLS:C0333302|SNOMEDCT_US:235766003|UMLS:C0267491 Recto-sigmoid colon stercoral ulcer|Colon ulcer An ulcer of the colon due to pressure and irritation from retained fecal masses. HP:0000437 Depressed nasal tip biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000437 UMLS:C1859717 Flattened nasal tip|Flat tip of nose|Caved in nasal tip|Depressed tip of nose|Nasal tip, recessed|Depressed nasal tip|Nasal tip, depressed|Flat nasal tip|Nasal tip, retruded|Retruded tip of nose Decreased distance from the nasal tip to the nasal base. HP:0001769 Broad foot biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001769 UMLS:C1866241 Broad foot|Broad feet|Wide foot A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length. HP:0000436 Abnormality of the nasal tip biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000436 UMLS:C4025852 Abnormality of the nasal tip|Deformity of the nasal tip|Malformation of the nasal tip|Deformity of tip of nose|Malformation of tip of nose|Abnormality of tip of nose An abnormality of the nasal tip. HP:0001761 Pes cavus biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001761 UMLS:C0728829|SNOMEDCT_US:205091006|MEDDRA:10034743 High-arched foot The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight. HP:0001762 Talipes equinovarus biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001762 Fyler:4171|MEDDRA:10043106|SNOMEDCT_US:249808002|SNOMEDCT_US:397932003|MSH:D003025|UMLS:C0009081 Equinovarus|Talipes varus|Pes equinovarus|Club foot|Club feet|Clubfoot|Foot, talipes equinovarus|Clubfeet|Pes equinus|Clubbing of feet 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. HP:0410389 Decreased proportion of central memory CD8-positive, alpha-beta T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410389 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. HP:0410388 Decreased proportion of central memory CD4-positive, alpha-beta T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410388 Reduced proportion of CD4+ central memory cells|Decreased proportion of central memory CD4+, alpha-beta T cell|Decreased proportion of CD4+ central memory cells|Decreased proportion of CD4-positive central memory cells A reduced proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. HP:0000431 Wide nasal bridge biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000431 SNOMEDCT_US:249321001|UMLS:C1839764|UMLS:C1849367 Nasal bridge, wide|Increased breadth of nasal bridge|Broad nasal root|Increased breadth of bridge of nose|Broad flat nasal bridge|Broad nasal bridge|Nasal bridge broad|Broadened nasal bridge|Widened nasal bridge|Increased width of nasal bridge|Increased width of bridge of nose|Wide bridge of nose|Wide nasal bridge Increased breadth of the nasal bridge (and with it, the nasal root). HP:0000430 Underdeveloped nasal alae biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000430 UMLS:C1834055 Hypoplastic nostrils|Hypoplastic nasal alae|Underdeveloped tissue around nostril|Hypoplastic alar cartilage|Hypoplastic alar nasae|Hypoplastic nasal wings|Nasal cartilage hypoplasia|Hypoplastic alae nasae|Ala nasi, underdeveloped|Thin hypoplastic alae nasi|Small nasal alae|Alar cartilage hypoplasia|Decreased size of nasal alae|Hypoplastic alae nasi|Hypoplastic nares Thinned, deficient, or excessively arched ala nasi. HP:0410387 obsolete Decreased proportion of effector memory CD4-positive, alpha-beta T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410387 HP:0001760 Abnormal foot morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001760 UMLS:C0016506|MSH:D005530|SNOMEDCT_US:229844004 Foot deformities|Abnormal feet structure|Abnormality of the feet|Abnormality of the foot|Foot deformity An abnormality of the skeleton of foot. HP:0000433 Abnormal nasal mucosa morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000433 UMLS:C4025854 Abnormality of mucous membrane of nose|Abnormality of nasal mucous membrane|Abnormality of mucosa of nose|Abnormality of the nasal mucosa HP:0001765 Hammertoe biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001765 UMLS:C1136179|SNOMEDCT_US:122481008|MSH:D037801 Hammertoes|Hammer toe|Hammertoe Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint. HP:0001763 Pes planus biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001763 UMLS:C0016202|SNOMEDCT_US:203534009|MSH:D005413|SNOMEDCT_US:53226007|UMLS:C0264133 Flat feet|Flat foot|Fallen arches|Dropped arches A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. HP:0000434 Nasal mucosa telangiectasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000434 UMLS:C4025853 Angioectasia of mucous membrane of nose|Angioectasia of mucosa of nose|Angioectasia of nasal mucous membrane|Spider veins of mucous membrane of nose|Nasal mucous membrane telangiectasia|Telangiectasia of mucous membrane of nose|Spider veins of mucosa of nose|Spider veins of nasal mucous membrane|Telangiectasia of nasal mucous membrane|Telangiectasia of mucosa of nose Telangiectasia of the nasal mucosa. HP:0410382 obsolete Abnormal proportion of effector memory CD4-positive, alpha-beta T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410382 HP:0012426 Optic disc drusen biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012426 SNOMEDCT_US:33629003|MSH:D015594|UMLS:C0029128 Optic nerve head drusen Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve. HP:0012427 Excessive femoral anteversion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012427 UMLS:C4022909 An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward. HP:0410381 Abnormal proportion of central memory CD4-positive, alpha-beta T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410381 An abnormal proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. HP:0012428 Prominent calcaneus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012428 UMLS:C4021088 Prominent heel bone Protruding heel bone, or calcaneus. HP:0410380 Abnormal proportion of CD8-positive, alpha-beta memory T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410380 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. HP:0012429 Aplasia/Hypoplasia of the cerebral white matter biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012429 UMLS:C4021844 Absent/underdeveloped cerebral white matter|Absent/small cerebral white matter Absence or underdevelopment of the cerebral white matter. HP:0410386 Decreased proportion of CD4-positive, alpha-beta memory T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410386 Decresaed proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. HP:0410385 Decreased proportion of CD8-positive, alpha-beta memory T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410385 Decreased proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. HP:0410384 Abnormal proportion of central memory CD8-positive, alpha-beta T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410384 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. HP:0410383 Abnormal proportion of effector memory CD8-positive, alpha-beta T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410383 An abnormal proportion of effector memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. HP:0012410 Pure red cell aplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012410 UMLS:C0034902|MSH:D012010|SNOMEDCT_US:50715003 Red cell aplasia A type of anemia resulting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction. HP:0012411 Premature pubarche biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012411 UMLS:C0342541|SNOMEDCT_US:237815000 Premature pubic hair growth The onset of growth of pubic hair at an earlier age than normal. HP:0012412 Premature adrenarche biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012412 SNOMEDCT_US:103021001|UMLS:C0342546 Onset of adrenarche at an earlier age than usual. HP:0012413 Notched primary central incisor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012413 UMLS:C0020186|UMLS:C1444627|SNOMEDCT_US:410500004|MSH:D013590|SNOMEDCT_US:86443005|UMLS:C4022912 Notched front deciduous tooth|Notched front baby tooth|Hutchinson's sign|Syphilitic primary incisor|Hutchinson-boeck teeth|Hutchinson's incisor|Notched front primary tooth|Hutchinson's teeth The presence of a V-shaped indentation (notch) in the primary central incisor. HP:0012414 Duodenal atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012414 UMLS:C4022911 Wasting or decrease in size of all or part of the duodenum. HP:0000448 Prominent nose biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000448 UMLS:C0426415|SNOMEDCT_US:249311009|UMLS:C1400105|UMLS:C4280629 Nasal hyperplasia|Hypertrophy of nose|Disproportionately large nose|Pronounced nose|Increased nasal size|Nasal hypertrophy|Prominent nose|Large nose|Hyperplasia of nose|Big nose|Increased size of nose Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip. HP:0000447 Pear-shaped nose biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000447 UMLS:C1853482 Pear-shaped nose HP:0410379 Abnormal proportion of CD4-positive, alpha-beta memory T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410379 An abnormal proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. HP:0001772 Talipes equinovalgus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001772 MSH:D004863|UMLS:C0265642|UMLS:C4020866|SNOMEDCT_US:68284008 Equinovalgus deformity A deformity of foot and ankle in which the foot is bent down and outwards. HP:0410378 Decreased proportion of naive CD4 T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410378 Decreased proportion of CD4+CD45RA+ cells|Decreased proportion of naive thymus-derived CD4-positive, alpha-beta T cells|Reduced proportion of naive CD4 T cells An abnormally reduced proportion of naive CD4 T cells relative to the total number of T cells. HP:0001773 Short foot biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001773 UMLS:C1848673 Hypoplastic feet|Small feet|Short feet|Short foot A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). HP:0001770 Toe syndactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001770 SNOMEDCT_US:32113001|UMLS:C0265660 Webbed toes|Foot syndactyly|Syndactyly of feet|Fused toes|Syndactyly of toes 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". HP:0410377 Decreased proportion of naive CD8 T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410377 Reduced proportion of naive thymus-derived CD8-positive, alpha-beta T cells|Reduced proportion of naive CD8 T cells An abnormally reduced proportion of naive CD8 T cells relative to the total number of T cells. HP:0001771 Achilles tendon contracture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001771 SNOMEDCT_US:203076007|UMLS:C0410264 Tight achilles tendon|Contractures of the Achilles tendon|Achilles tendon contractures|Shortening of the achilles tendon A contracture of the Achilles tendon. HP:0410376 Increased proportion of naive CD8 T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410376 Elevated proportion of naive thymus-derived CD8-positive, alpha-beta T cells|Elevated proportion of naive CD8 T cells An abnormally increased proportion of naive CD8 T cells relative to the total number of T cells. HP:0001776 Bilateral talipes equinovarus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001776 UMLS:C1837835 Bilateral clubfeet|Club foot on both sides|Bilateral clubfoot Bilateral clubfoot deformity (see HP:0001762). HP:0000444 Convex nasal ridge biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000444 UMLS:C0240538 Convex nasal dorsum|Polly beak nasal deformity|Convex dorsum of nose|Hooked nose|Beaklike protrusion|Beaked nose Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low. HP:0000446 Narrow nasal bridge biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000446 UMLS:C4551564 Narrow nasal root|Nasal Bridge, Narrow|Pinched bridge of nose|Pinched nasal bridge|Nasal bridge, thin|Narrow bridge of nose|Narrow nasal bridge Decreased width of the bony bridge of the nose. HP:0000445 Wide nose biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000445 UMLS:C0426421|SNOMEDCT_US:249321001 Increased nasal breadth|Broad nose|Increased width of nose|Increased nasal width|Wide nose|Increased breadth of nose Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae. HP:0001775 Tarsal osteovalgus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001775 UMLS:C4025748 HP:0012415 Abnormal blood gas level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012415 SNOMEDCT_US:312391003|UMLS:C0476337 Abnormal blood gas level An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood. HP:0410371 Increased hepatitis C virus antibody level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410371 An abnormally increased level of immunoglobulin against hepatitis C virus in the blood. HP:0410370 Absence of ganglioside GM3 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410370 The absence of ganglioside GM3. HP:0012416 Hypercapnia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012416 UMLS:C0020440|SNOMEDCT_US:29596007|MSH:D006935 Hypercarbia|High blood carbon dioxide level Abnormally elevated blood carbon dioxide (CO2) level. HP:0012417 Hypocapnia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012417 SNOMEDCT_US:61031008|MSH:D016857|UMLS:C0085383 Reduced carbon dioxide in the blood|Hypocarbia Abnormally reduced blood carbon dioxide (CO2) level. HP:0012418 Hypoxemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012418 UMLS:C0700292|MSH:D000860|SNOMEDCT_US:389087006 Low blood oxygen level|Hypoxia An abnormally low level of blood oxygen. HP:0012419 Hyperoxemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012419 UMLS:C4022910 An abnormally high level of blood oxygen. HP:0410375 Increased proportion of naive CD4 T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410375 Increased proportion of naive thymus-derived CD4-positive, alpha-beta T cells|Elevated proportion of naive CD4 T cells|Increased proportion of CD4+CD45RA+ cells HP:0410374 Abnormal proportion of naive CD8 T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410374 Any abnormality in the proportion of naive CD8 T cells relative to the total number of T cells. HP:0410373 Abnormal proportion of naive CD4 T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410373 Abnormal proportion of CD4+CD45RA+ cells|Abnormal proportion of naive thymus-derived CD4-positive, alpha-beta T cells Any abnormality in the proportion of naive CD4 T cells relative to the total number of T cells. HP:0410372 Increased Tn-antigen level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410372 Increased O-GalNac on glycoprotein concentration An abnormal increase in the concentration of Tn antigen on glycoproteins. HP:0012400 Abnormal aldolase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012400 UMLS:C4022916 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. HP:0012401 Abnormal urine alpha-ketoglutarate concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012401 UMLS:C4020902 Abnormal urinary 2-oxoglutarate level|Abnormality of urine alpha ketoglutarate concentration A deviation from normal of the concentration of 2-oxoglutaric acid in the urine. HP:0012402 Increased urine alpha-ketoglutarate concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012402 UMLS:C4022915 Elevated urinary 2-oxoglutarate|Increased urine alpha-ketoglutarate concentration A greater than normal concentration of 2-oxoglutaric acid in the urine. HP:0012403 Decreased urine alpha-ketoglutarate concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012403 UMLS:C4022914 Decreased urinary 2-oxoglutarate A lower than normal concentration of 2-oxoglutaric acid in the urine. HP:0000415 Abnormality of the choanae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000415 UMLS:C4025855 Abnormality of the choanae (the posterior nasal apertures). HP:0001747 Accessory spleen biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001747 Fyler:4772|SNOMEDCT_US:10362008|UMLS:C0266631 An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance. HP:0001748 Polysplenia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001748 UMLS:C1856659 Multiple accessory spleens|Accessory spleens|Multiple small spleens Polysplenia is a congenital disease manifested by multiple small accessory spleens. HP:0000414 Bulbous nose biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000414 UMLS:C1855751|UMLS:C1834118|MSH:C538354|UMLS:C0240543 Bulbous nose|Bulbous nasal tip|Potato nose Increased volume and globular shape of the anteroinferior aspect of the nose. HP:0000417 Slender nose biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000417 UMLS:C1857645 Slender nose HP:0001746 Asplenia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001746 UMLS:C0600031|SNOMEDCT_US:702624008|SNOMEDCT_US:707147002|SNOMEDCT_US:93030006|Fyler:4771 Absent spleen Absence (aplasia) of the spleen. HP:0000419 Abnormality of the nasal septum biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000419 SNOMEDCT_US:95433000|UMLS:C0151790 Anomaly of septum of nose|Abnormality of the nasal septum|Abnormality of septum of nose|Anomaly of nasal septum An abnormality of the nasal septum. HP:0000418 Narrow nasal ridge biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000418 UMLS:C1837761 Decreased width of nasal ridge|Narrow nasal ridge|Thin nasal dorsum|Thin dorsum of nose|Narrow nasal dorsum|Thin nasal ridge|Decreased width of nasal dorsum|Pinched nose|Narrow dorsum of nose|Decreased width of dorsum of nose Decreased width of the nasal ridge. HP:0000411 Protruding ear biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000411 UMLS:C1305420|UMLS:C1855285|SNOMEDCT_US:275478007 Prominent ear|Protruding ears|Prominent ears 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). HP:0001743 Abnormality of the spleen biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001743 UMLS:C4025749 Abnormality of the spleen An abnormality of the spleen. HP:0001744 Splenomegaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001744 SNOMEDCT_US:16294009|UMLS:C0038002|MSH:D013163 Increased spleen size Abnormal increased size of the spleen. HP:0000410 Mixed hearing impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000410 UMLS:C0155552|SNOMEDCT_US:77507001|MSH:D046089 Mixed hearing impairment|Mixed hearing loss|Hearing loss, mixed A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment. HP:0001741 Phimosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001741 SNOMEDCT_US:253854008|UMLS:C0345326 The male foreskin cannot be fully retracted from the head of the penis. HP:0000413 Atresia of the external auditory canal biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000413 UMLS:C1398325|UMLS:C1840305|UMLS:C1866190|UMLS:C1857079 Atretic auditory canals|Atresia of the external auditory canals|Atretic external auditory canals|External auditory canal atresia|Atretic external auditory canal|Auditory canal atresia|External auditory meatal atresia|Absent ear canal|Absent external auditory canals|External auditory meatus atresia|External acoustic meatus atresia|Absent auditory canals|Atretic auditory canal Absence or failure to form of the external auditory canal. HP:0001742 Nasal obstruction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001742 SNOMEDCT_US:267100006|UMLS:C0027429|MSH:D015508|UMLS:C0027424|SNOMEDCT_US:232209000|SNOMEDCT_US:68235000 Congestion of nose|Obstruction of nose|Nasal blockage|Nasal obstruction|Blockage of nose|Nasal congestion|Stuffy nose Reduced ability to pass air through the nasal cavity often leading to mouth breathing. HP:0012404 Abnormal urine citrate concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012404 UMLS:C4022913 Abnormal urine citrate concentration|Abnormal urine citric acid concentration A deviation from normal of the concentration of citrate(3-) in the urine. HP:0012405 Hypocitraturia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012405 UMLS:C2673444 Decreased urine citrate concentration A lower than normal concentration of citrate(3-) in the urine. HP:0012406 Hypercitraturia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012406 UMLS:C4021090 Increased urine citrate concentration A greater than normal concentration of citrate(3-) in the urine. HP:0012407 Scissor gait biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012407 UMLS:C0231698|MSH:D020233|SNOMEDCT_US:22090007 Scissor walk|Scissor gait|Scissors gait A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use. HP:0012408 Medullary nephrocalcinosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012408 UMLS:C0403477|SNOMEDCT_US:236447005 The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney). HP:0012409 Cortical nephrocalcinosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012409 SNOMEDCT_US:236446001|UMLS:C0403476 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). HP:0000426 Prominent nasal bridge biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000426 UMLS:C4230640|UMLS:C1854113 Protruding bridge of nose|Convex bridge of nose|Prominent nasal root|Prominent nasal bridge|High nasal bridge|Prominent bridge of nose|Elevated nasal bridge|Protruding nasal bridge|Convex nasal bridge Anterior positioning of the nasal root in comparison to the usual positioning for age. HP:0001756 Vestibular hypofunction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001756 UMLS:C1848606 Reduced functioning of the vestibular apparatus. HP:0001757 High-frequency sensorineural hearing impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001757 UMLS:C4021775 High frequency sensorineural hearing impairment|High-tone sensorineural deafness|High-tone sensorineural hearing impairment A form of sensorineural hearing impairment that affects primarily the higher frequencies. HP:0000429 Abnormality of the nasal alae biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000429 UMLS:C2227020|UMLS:C4021804|UMLS:C4280632|UMLS:C4280631 Abnormality of the nasal alar cartilage|Deformity of the nasal alar cartilage|Malformation of the nasal alar cartilage|Deformity of the nasal ala|Abnormality of the nasal ala|Malformation of the nasal ala An abnormality of the Ala of nose. HP:0001750 Single ventricle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001750 UMLS:C0152424|Fyler:200|Fyler:0200|SNOMEDCT_US:45503006 Common 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. HP:0001751 Vestibular dysfunction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001751 UMLS:C1843865 Impaired vestibular function|Vestibular function defect|Interictal vestibular dysfunction An abnormality of the functioning of the vestibular apparatus. HP:0410399 Positive blood lead test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410399 Increased blood lead level Detection of lead in the blood. HP:0000420 Short nasal septum biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000420 UMLS:C1844857 Short septum of nose|Short nasal septum|Decreased length of nasal septum|Decreased length of septum of nose Reduced superior to inferior length of the nasal septum. HP:0000422 Abnormal nasal bridge morphology biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000422 UMLS:C4021805 Abnormality of the nasal bridge|Malformation of the bridge of the nose|Deformity of the bridge of the nose|Abnormality of the bridge of the nose|Abnormality of the nasal root|Deformity of the nasal bridge|Malformation of the nasal bridge 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. HP:0000421 Epistaxis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000421 ICD9:784.7|EFO:0003895|MSH:D004844|SNOMEDCT_US:249366005|ICD10:R04.0|SNOMEDCT_US:12441001|UMLS:C0014591|COHD:318556|NCIT:C26766 Nose bleed|Nasal hemorrhage|Frequent nosebleeds|Nosebleed|Nose bleeding|Bloody nose Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. HP:0410393 Increased proportion of central memory CD4-positive, alpha-beta T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410393 Increased proportion of CD4+ central memory cells|Elevated proportion of CD4+ central memory cells|Increased proportion of central memory CD4+, alpha-beta T cell|Elevated proportion central memory CD4-positive, alpha-beta T cells An abnormally elevated proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. HP:0410392 Increased proportion of CD8-positive, alpha-beta memory T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410392 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. HP:0410391 Increased proportion of CD4-positive, alpha-beta memory T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410391 An abnormally elevated proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. HP:0410390 Decreased proportion of effector memory CD8-positive, alpha-beta T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410390 A reduced proportion of CD8-positive, alpha-beta effector memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. HP:0410397 Bronchiolectasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410397 Bronchiolectasia Saccular dilatation of the terminal bronchioles. HP:0410396 Increased proportion of central memory CD8-positive, alpha-beta T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410396 An increased proportion of central memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. HP:0410395 Increased proportion of effector memory CD8-positive, alpha-beta T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410395 An increased proportion of effector memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. HP:0410394 Increased proportion of effector memory CD4-positive, alpha-beta T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410394 An abnormally elevated proportion of effector memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. HP:0011098 Speech apraxia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011098 UMLS:C0349391|MSH:D001072|UMLS:C0264611|SNOMEDCT_US:361276003|SNOMEDCT_US:74227009|SNOMEDCT_US:361277007 Apraxia of speech|Verbal dyspraxia A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur. HP:0011099 Spastic hemiparesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011099 SNOMEDCT_US:79633009|UMLS:C0154694|MSH:D006429 Spastic hemiplegia Unilateral paresis (weakness) with spasticity of the affected muscles and increased tendon reflexes. HP:0011090 Fused teeth biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011090 MSH:D005671|UMLS:C0016873|SNOMEDCT_US:1744008 Joined teeth|Fusion of teeth|Fused teeth The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch. HP:0011091 Gemination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011091 UMLS:C0266033|SNOMEDCT_US:40273006 Splitting of crown of tooth|Gemination of tooth The development of two teeth from a single tooth bud, leading to a larger fused tooth. HP:0011092 Mulberry molar biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011092 UMLS:C0266024|SNOMEDCT_US:109436001 Syphilitic permanent first molar Mulberry molars are irregular teeth generally affecting the first molars and are characterized by a grossly deformed crown imitating, as the name implies, the surface of a mulberry. HP:0011093 Molarization of premolar biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011093 UMLS:C1404304|UMLS:C4280334 Molarization of bicuspid|Enlarged premolar|Molar shape of premolar|Molar shape of bicuspid|Increased size of premolar Increased size and molar morphology of premolar tooth. HP:0011094 Overbite biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011094 SNOMEDCT_US:251293001|MSH:D057887|UMLS:C1305740|SNOMEDCT_US:10816007|UMLS:C0266063|UMLS:C0266067|SNOMEDCT_US:63783001|SNOMEDCT_US:60476005 Overbite|Scissors bite|Deep bite|Deep overbite|Increased overlap of upper and lower incisors Maxillary teeth cover the mandibular teeth when biting to an increased degree. HP:0011095 Overjet biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011095 MSH:D057887|UMLS:C0596028|SNOMEDCT_US:70305005|SNOMEDCT_US:251292006 Upper teeth sticking out forward|Buck teeth|Protrusion of the maxillary incisors|Protrusion of upper teeth in front of lower teeth|Abnormality of horizontal incisor relationship An abnormal anteroposterior extension of the maxillary teeth beyond the plane of the mandibular teeth upon jaw closure. HP:0011096 Peripheral demyelination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011096 UMLS:C0878575 Demyelination A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. HP:0011097 Epileptic spasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011097 UMLS:C0037769|UMLS:C1527366|SNOMEDCT_US:28055006|MSH:D013036 Salaam seizure|Epileptic spasms|Salaam seizures|Salaam convulsions|West syndrome|Salaam convulsion 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 HP:0011087 Talon cusp biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011087 UMLS:C4280335|UMLS:C0266034|UMLS:C0399357|SNOMEDCT_US:63691004|SNOMEDCT_US:234955005 Talon cusps|Dens evaginatus|Extra cusp on inside of front tooth Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown). HP:0011088 Dens in dente biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011088 UMLS:C0011320|MSH:D003719|SNOMEDCT_US:55197001 Dens invaginatus|Tooth within a tooth An abnormality of the incisor characterized by invagination of the enamel, giving a radiographic appearance that suggests a tooth within a tooth. HP:0011089 Double tooth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011089 SNOMEDCT_US:1744008|MSH:D005671|UMLS:C0016873 Conjoined teeth|Double tooth A dental anomaly characterized by the presence of a two fused teeth. HP:0011080 Abnormality of premolar morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011080 UMLS:C4023545 Abnormality of shape of premolar|Abnormality of shape of bicuspid|Abnormality of bicuspid morphology An abnormality of morphology of premolar tooth. HP:0011081 Incisor macrodontia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011081 UMLS:C4280337|UMLS:C4023544 Large incisor|Hyperplasia of incisor|Increased width of incisor|Hypertrophy of incisor|Increased size of incisor Increased size of the incisor tooth. HP:0011082 Conical primary incisor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011082 UMLS:C4023543 Peg shaped front baby tooth|Conoid primary incisor|Primary front shark tooth|Pointed primary incisor|Pointed front baby tooth|Conical deciduous incisor|Cone shaped front baby tooth|Peg shaped primary incisor An abnormal conical morphology of the primary incisor. HP:0011083 Conical maxillary incisor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011083 UMLS:C4023542 Cone shaped maxillary incisor|Conoid maxillary incisor|Upper front shark tooth|Peg shaped upper front tooth|Cone shaped upper front tooth|Pointed maxillary incisor|Pointed upper front tooth An abnormal conical morphology of either maxillary primary incisor tooth or maxillary permanent incisor tooth or both. HP:0011084 Hypocalcification of dental enamel biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011084 UMLS:C4023541 Decreased enamel calcification|Poorly calcified tooth enamel A form of hypomineralization of enamel characterized by reduced calcification. HP:0011085 Hypomature dental enamel biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011085 UMLS:C4280336|UMLS:C4023540|UMLS:C4280266 Soft tooth enamel|Soft teeth|Immature tooth enamel A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color. HP:0011086 Dentinogenesis imperfecta of primary and permanent teeth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011086 UMLS:C4023539 Dentinogenesis imperfecta of both sets of teeth|Dentinogenesis imperfecta of adult and baby teeth Developmental dysplasia of dentin or both the primary dentition and the permanent dentition. HP:0011076 Abnormality of premolar biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011076 UMLS:C4023548 Abnormality of bicuspid|Abnormality of premolar An abnormality of premolar tooth. HP:0011077 Abnormality of molar biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011077 UMLS:C4023547 Abnormality of molar An abnormality of molar tooth. HP:0011078 Abnormality of canine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011078 UMLS:C4023546 Abnormality of eye tooth|Abnormality of canine An abnormality of canine tooth. HP:0011079 Impacted tooth biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011079 SNOMEDCT_US:129263008|UMLS:C4280338|UMLS:C0040456|MSH:D014095|SNOMEDCT_US:235104008 Impacted tooth|Retained tooth|Buried tooth A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth). HP:0011070 Abnormality of molar morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011070 UMLS:C4023553 Abnormal shape of molar tooth An abnormality of morphology of molar tooth. HP:0011071 Abnormality of permanent molar morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011071 UMLS:C4023552 Abnormality of shape of permanent molar|Abnormality of shape of adult molar An abnormality of morphology of permanent molar. HP:0011072 Rootless teeth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011072 SNOMEDCT_US:109493006|UMLS:C4082200|MSH:C538215|UMLS:C0399379 Rootless teeth|Teeth without roots|Missing tooth root|Agenesis of tooth root|Absence of tooth root|Aplasia of tooth root|Tooth with dentin dysplasia type i HP:0011073 Abnormality of dental color biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011073 UMLS:C4023551 Abnormality of tooth shade|Abnormality of dental shade|Abnormality of dental colour|Abnormality of tooth color|Abnormality of dental color A developmental defect of tooth color. HP:0011074 Localized hypoplasia of dental enamel biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011074 UMLS:C4023550|UMLS:C4280339 Localized hypoplasia of tooth enamel|Localized dysplasia of tooth enamel|Localised hypoplasia of dental enamel A localized form of developmental hypoplasia of the dental enamel. HP:0011075 Green teeth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011075 UMLS:C4023549 Green tooth shade|Green teeth|Green colored teeth A green staining of teeth. HP:0011065 Conical incisor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011065 UMLS:C4280342|UMLS:C4280341|UMLS:C4020759|UMLS:C1856136 Peg shaped front tooth|Cone shaped front tooth|Shark tooth incisor|Pointed front tooth|Peg shaped incisors|Conoid incisor|Peg-shaped incisors|Pointed incisor An abnormal conical morphology of the incisor tooth. HP:0012396 Biliary dyskinesia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012396 MSH:D001657|SNOMEDCT_US:197432008|UMLS:C0005416 A motility disorder characterized by biliary colic in the absence of gallstones with a reduced gallbladder ejection fraction. HP:0012397 Aortic atherosclerotic lesion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012397 UMLS:C0155733|SNOMEDCT_US:81817003 Aortic atherosclerosis|Atherosclerosis of the aorta|Plaque build-up in aorta artery|Atherosclerotic changes of aorta The presence of atheromas or atherosclerotic plaques in the aorta. HP:0012398 Peripheral edema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012398 SNOMEDCT_US:82014009|UMLS:C0085649|SNOMEDCT_US:271809000 Peripheral oedema An abnormal accumulation of interstitial fluid in the soft tissues of the limbs. HP:0011067 Mesiodens biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011067 SNOMEDCT_US:367534004|SNOMEDCT_US:8666004|UMLS:C0266030|UMLS:C0040457|SNOMEDCT_US:17802000|MSH:D014096|UMLS:C4280340|SNOMEDCT_US:266414008 Mesiodentes|Extra tooth in the midline|Median supernumary tooth|Extra tooth|Midline supernumary tooth The presence of a supernumerary tooth in the midline between the maxillary central incisors. HP:0012399 Pressure ulcer biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012399 SNOMEDCT_US:399912005|SNOMEDCT_US:420226006|UMLS:C0011127|MSH:D003668 Decubitus Ulcer|Pressure Sore|Pressure ulcer|Bedsore A type of ulcer that is caused when an area of skin is subject to pressure over a prolonged period of time, ranging in range in severity from patches of discolored skin to open wounds that expose the underlying bone or muscle. The most common sites are the sacrum, coccyx, heels and the hips. HP:0011068 Odontoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011068 SNOMEDCT_US:79074005|UMLS:C0028882|MSH:D009810 Odontomas The presence of an odontoma. HP:0011069 Increased number of teeth biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011069 SNOMEDCT_US:266414008|SNOMEDCT_US:367534004|SNOMEDCT_US:8666004|UMLS:C0040457|MSH:D014096 Increased number of teeth|Hyperdontia|Supernumary dentition|More teeth than normal|Supernumerary tooth|Supernumary teeth|Increased tooth count|Supernumerary teeth|Extra teeth|Supplemental dentition|Supplemental teeth The presence of a supernumerary, i.e., extra, tooth or teeth. HP:0012390 Anal fissure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012390 MSH:D005401|UMLS:C0016167|SNOMEDCT_US:30037006|SNOMEDCT_US:20928004 Anal erosion A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus. HP:0011060 Dentinogenesis imperfecta limited to primary teeth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011060 UMLS:C0011430|SNOMEDCT_US:109492001|UMLS:C4023558|MSH:D003805 Dentinogenesis imperfecta of baby teeth|Dentin dysplasia Developmental dysplasia of dentin affecting only the primary dentition. HP:0012391 Hyporeflexia of upper limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012391 UMLS:C1836835 Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping. HP:0012392 Jaw hyporeflexia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012392 UMLS:C4022918 Mandibular hyporeflexia Reduced intensity of muscle tendon reflexes in jaw. HP:0011061 Abnormality of dental structure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011061 UMLS:C4023557 Abnormality of tooth part|Abnormality of tooth structure An abnormality of the structure or composition of the teeth. HP:0011062 Misalignment of incisors biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011062 UMLS:C4023556|UMLS:C4280343 Crooked front teeth|Misalignment of incisors|Malposition of incisors|Abnormality of position of incisors|Crooked incisors|Abnormality of alignment of incisors Misaligned incisor. HP:0012393 Allergy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012393 MSH:D006967|SNOMEDCT_US:419076005|UMLS:C1527304 Allergy An allergy is an immune response or reaction to substances that are usually not harmful. HP:0011063 Abnormality of incisor morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011063 UMLS:C4023555 Abnormality of shape of incisor An abnormality of morphology of the incisor tooth. HP:0012394 Iodine contrast allergy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012394 UMLS:C4022917 Allergy to iodine contrast media used in radiological studies. HP:0011064 Abnormal number of incisors biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011064 UMLS:C4023554 Abnormal number of incisors|Abnormal number of front teeth The presence of an altered number of the incisor teeth. HP:0012395 Seasonal allergy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012395 SNOMEDCT_US:300910009|UMLS:C0018621|SNOMEDCT_US:444316004|MSH:D006255|SNOMEDCT_US:367498001|SNOMEDCT_US:21719001 Seasonal allergy An allergy experienced at a particular time of year when trees or grasses pollinate and elicit an allergic reaction. HP:0011010 Chronic biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011010 UMLS:C0205191|SNOMEDCT_US:90734009 Chronic Slow, creeping onset, slow progress and long continuance of disease manifestations. HP:0012341 Microprolactinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012341 SNOMEDCT_US:253010003|UMLS:C0344452|MSH:D015175 A pituitary prolactin cell adenoma of less than 10 mm diameter. HP:0011011 Subacute biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011011 SNOMEDCT_US:19939008|UMLS:C0205365 Somewhat rapid onset and change of disease manifestations. HP:0012342 Macroprolactinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012342 SNOMEDCT_US:253011004|MSH:D015175|UMLS:C0344453 A pituitary prolactin cell adenoma of more than 10 mm diameter. HP:0011012 Abnormal circulating polysaccharide concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011012 UMLS:C4023600 A deviation from the normal concentration of a polysaccharide in the blood circulation. HP:0012343 Decreased circulating ferritin concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012343 UMLS:C0241012 Reduced serum ferritin|Decreased plasma ferritin|Decreased serum ferritin|Low ferritin level Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood. HP:0011013 Abnormal circulating carbohydrate concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011013 UMLS:C4023599 A deviation from the normal concentration of a carbohydrate in the blood circulation. HP:0012344 Morphea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012344 MSH:D012594|UMLS:C1527383|SNOMEDCT_US:201049004 Isolated patches of hardened skin (scleroderma). HP:0012345 Abnormal glycosylation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012345 UMLS:C4022946 An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule. HP:0011014 Abnormal glucose homeostasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011014 UMLS:C4023598 Abnormality of glucose homeostasis. HP:0011015 Abnormal blood glucose concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011015 UMLS:C4023597 Abnormality of blood glucose concentration An abnormality of the concentration of glucose in the blood. HP:0012346 Abnormal protein glycosylation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012346 UMLS:C4022945 An anomaly of a protein glycosylation process, i.e., of a protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. HP:0012347 Abnormal protein N-linked glycosylation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012347 UMLS:C4022944 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. HP:0011016 Abnormality of urine glucose concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011016 UMLS:C4023596 An abnormality of the concentration of glucose in the urine. HP:0012348 Decreased galactosylation of N-linked protein glycosylation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012348 UMLS:C4022943 A reduction in the amount of galactose residues of N-glycans. HP:0011017 Abnormal cellular physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011017 UMLS:C4023595 Abnormality of cell physiology An abnormality in a cellular process. HP:0000359 Abnormality of the inner ear biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000359 UMLS:C4021809 Inner ear abnormality|Abnormality of the inner ear An abnormality of the inner ear. HP:0012340 Decreased resting energy expenditure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012340 UMLS:C4022947 A reduction in the number of calories used per unit time. HP:0001684 Secundum atrial septal defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001684 ICD-10:Q21.1|UMLS:C0344724|Fyler:2000|MSH:D006344|SNOMEDCT_US:204315000 Ostium secundum atrial septal defect|Atrial septal defect, ostium secundum type|Patent ostium secundum A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum. HP:0001685 Myocardial fibrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001685 UMLS:C0151654 Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts. HP:0001682 Subvalvular aortic stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001682 UMLS:C0340375|SNOMEDCT_US:204368006|MSH:D001020 Subaortic stenosis|Narrowing of blood vessel below aortic heart valve 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. HP:0001683 Ectopia cordis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001683 Fyler:170|Fyler:0170|MSH:D054083|SNOMEDCT_US:78250005|UMLS:C0013580 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. HP:0000356 Abnormality of the outer ear biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000356 SNOMEDCT_US:275259005|UMLS:C1846460|UMLS:C0266589 Malformed pinnae|Ear anomalies|Abnormal pinnae|Abnormality of the external ear|External ear malformations|Outer ear abnormality|Abnormality of the outer ear|Abnormality of the auricle An abnormality of the external ear. HP:0001688 Sinus bradycardia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001688 UMLS:C0085610|Fyler:7013|SNOMEDCT_US:49710005 Bradycardia related to a mean resting sinus rate of less than 50 beats per minute. HP:0000358 Posteriorly rotated ears biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000358 SNOMEDCT_US:253251006|UMLS:C0431478 Ear, posterior angulation, increased|Posteriorly-angulated ears|Ears rotated toward back of head|Posteriorly angulated ears|Posteriorly-rotated ears|Posteriorly rotated auricles|Posteriorly rotated A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). HP:0001686 Loss of voice biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001686 UMLS:C0003564|SNOMEDCT_US:441913003|MSH:D001044|SNOMEDCT_US:44564008 Aphonia HP:0000357 Abnormal location of ears biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000357 UMLS:C4021810 Abnormal location of ears|External ear position defect Abnormal location of the ear. HP:0011018 Abnormality of the cell cycle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011018 UMLS:C4023594 Abnormality of the cell cycle An abnormality of the cell cycle. HP:0012349 Abnormal sialylation of N-linked protein glycosylation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012349 UMLS:C4022942 An anomaly of the addition of sialic acids to N-linked glycans. HP:0011019 Abnormality of chromosome condensation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011019 UMLS:C4023593 An abnormality of chromosome condensation. HP:0001680 Coarctation of aorta biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001680 MSH:D001017|SNOMEDCT_US:7305005|UMLS:C0003492 Coarctation of the aorta|Aortic coarctation|Narrowing of the aorta|Narrowing of aorta Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. HP:0001681 Angina pectoris biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001681 SNOMEDCT_US:194828000|UMLS:C0002962|MSH:D000787|SNOMEDCT_US:225566008 Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia. HP:0000350 Small forehead biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000350 UMLS:C4280634|UMLS:C1845250|UMLS:C4280633 Decreased size of forehead|Small forehead|Decreased size of frontal region of face|Hypoplasia of forehead|Hypotrophic forehead The presence of a forehead that is abnormally small. HP:0012330 Pyelonephritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012330 MSH:D011704|UMLS:C0034186|SNOMEDCT_US:45816000 An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices. HP:0011000 Aplasia/Hypoplasia of the optic tract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011000 UMLS:C4023602 Absent/small optic tract|Absent/underdeveloped optic tract HP:0012331 Abnormal autonomic nervous system morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012331 UMLS:C4022953 A structural abnormality of the autonomic nervous system. HP:0011001 Increased bone mineral density biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011001 MSH:D010026|SNOMEDCT_US:49347007|UMLS:C0029464 Increased bone mineral density|Osteosclerosis of bones|Osteosclerosis|Increased bone 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. HP:0012332 Abnormal autonomic nervous system physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012332 UMLS:C4022952 Autonomic dysfunction|Dysautonomia|Autonomic dysregulation A functional abnormality of the autonomic nervous system. HP:0012333 Abnormal sudomotor regulation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012333 UMLS:C4021092 Sudomotor sympathetic dysfunction An abnormal regulation of the sweat glands by the sympathetic nervous system associated with abnormal perspiration. HP:0011002 Osteopetrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011002 MSH:D010022|SNOMEDCT_US:367489004|UMLS:C0029454|SNOMEDCT_US:1926006 Marble bone disease|Albers-Schoenberg disease|Albers-Schönberg disease|Harder, denser, fracture-prone bones|Albers-Schonberg disease Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal. HP:0011003 High myopia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011003 UMLS:C0271183|SNOMEDCT_US:34187009 Severe myopia (> -6.00 diopters)|Severe near sightedness|Severely near sighted|Severe myopia|Severely close sighted A severe form of myopia with greater than -6.00 diopters. HP:0012334 Extrahepatic cholestasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012334 MSH:D001651|UMLS:C0005398|SNOMEDCT_US:20719006|SNOMEDCT_US:8262006 Impairment of bile flow due to obstruction in large bile ducts outside the liver. HP:0011004 Abnormal systemic arterial morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011004 SNOMEDCT_US:234119001|UMLS:C4021205|Fyler:2600|UMLS:C0151489 Arterial abnormalities|Abnormal systemic artery morphology|Systemic artery abnormality|Abnormality of the systemic arterial tree An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries. HP:0012335 Abnormality of folate metabolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012335 UMLS:C4022951 An abnormality of the metabolism of folic acid, which is also known as vitamin B9. HP:0012336 obsolete Reduced cerebrospinal fluid 5-methyltetrahydrofolate concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012336 HP:0011005 Mixed cirrhosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011005 UMLS:C1392669 A type of cirrhosis characterized by the presence of regenerative nodules of a variety of sizes. HP:0011006 Abnormal morphology of the musculature of the neck biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011006 UMLS:C4023601 Abnormality of cervical musculature|Abnormality of the musculature of the neck|Neck muscle issue An abnormality of the neck musculature. HP:0012337 Abnormal homeostasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012337 MP:0001764|UMLS:C4022950 An anomaly in the processes involved in the maintenance of an internal equilibrium. HP:0025640 Abnormal urinary mineral level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025640 An abnormal concentration or amount of a mineral in the urine. Medically relevant minerals include calcium, phosphorus, potassium, sodium, chloride, magnesium, iron, zinc, iodine, chromium, copper, fluoride, molybdenum, manganese, and selenium. HP:0000363 Abnormality of earlobe biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000363 UMLS:C4021808 Abnormal lobe of ear|Abnormal earlobe|Abnormality of auricular lobule|Abnormality of ear lobe|Abnormality of earlobe|Abnormality of lobulus auriculae An abnormality of the lobule of pinna. HP:0001695 Cardiac arrest biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001695 SNOMEDCT_US:397829000|UMLS:C0018790|SNOMEDCT_US:410429000|MSH:D006323 Heart stops beating An abrupt loss of heart function. HP:0001696 Situs inversus totalis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001696 MSH:D059446|SNOMEDCT_US:27317008|UMLS:C0266642|SNOMEDCT_US:43876007|UMLS:C0037221|MSH:D012857|Fyler:0100|Fyler:100|SNOMEDCT_US:24614000|SNOMEDCT_US:14821001 situs transversus|Situs inversus|situs oppositus|All organs on wrong side of body A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs. HP:0000362 Otosclerosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000362 MSH:D010040|UMLS:C0029899|SNOMEDCT_US:11543004 In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss. HP:0025641 Elevated circulating glycolate concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025641 An abnormally increased concentration of glycolate in the blood circulation. HP:0000365 Hearing impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000365 SNOMEDCT_US:103276001|UMLS:C0011053|SNOMEDCT_US:15188001|Fyler:4868|SNOMEDCT_US:343087000|UMLS:C1384666|MSH:D003638|UMLS:C0018772|MSH:D034381|SNOMEDCT_US:95828007|UMLS:C0339789 Hearing defect|Deafness|Hearing impairment|Hearing loss|Hypoacusis|Hypacusis A decreased magnitude of the sensory perception of sound. HP:0001693 Cardiac shunt biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001693 SNOMEDCT_US:442119001|UMLS:C0232180 Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system. HP:0000364 Hearing abnormality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000364 UMLS:C4025860 Abnormal hearing|Hearing abnormality An abnormality of the sensory perception of sound. HP:0025643 Tarlov cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025643 Perineural cyst A cerebrospinal fluid-filled nerve root cyst most often localized in the sacral spine. HP:0001694 Right-to-left shunt biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001694 UMLS:C0428871|SNOMEDCT_US:79692001 Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left. HP:0001699 Sudden death biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001699 UMLS:C0011071|SNOMEDCT_US:26636000|MSH:D003645 Rapid and unexpected death. HP:0000366 Abnormality of the nose biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000366 SNOMEDCT_US:128274005|UMLS:C0240547|UMLS:C0265736|SNOMEDCT_US:72089000|UMLS:C2235909 Nasal abnormality|Nasal anomaly|Anomaly of the nose|Nasal malformation|Abnormality of the nose|Deformity of the nose|Malformation of the nose|Nasal deformity An abnormality of the nose. HP:0000369 Low-set ears biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000369 UMLS:C0239234|SNOMEDCT_US:95515009 Lowset ears|Low set ears|Melotia|Low-set ears Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. HP:0001697 Abnormal pericardium morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001697 Fyler:1900|UMLS:C4025754 Abnormality of the pericardium 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. HP:0000368 Low-set, posteriorly rotated ears biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000368 UMLS:C1857486 Low-set posteriorly rotated ears Ears that are low-set (HP:0000369) and posteriorly rotated (HP:0000358). HP:0001698 Pericardial effusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001698 SNOMEDCT_US:373945007|MSH:D010490|Fyler:1940|UMLS:C0031039 Fluid around heart|Pericardial effusions Accumulation of fluid within the pericardium. HP:0012338 Abnormal energy expenditure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012338 UMLS:C4022949 Abnormal energy expenditure Any anomaly in the utilization of energy (calories). HP:0012339 Increased resting energy expenditure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012339 UMLS:C4022948 An increase in the number of calories used per unit time. HP:0011008 Temporal pattern biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011008 UMLS:C4021204 Speed of onset The speed at which disease manifestations appear and develop. HP:0011009 Acute biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011009 UMLS:C0205178|SNOMEDCT_US:272118002 Acute onset Sudden appearance of disease manifestations over a short period of time. HP:0001691 Muscular subvalvular aortic stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001691 UMLS:C3887554 Muscular subaortic 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. HP:0001692 Atrial arrhythmia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001692 UMLS:C4025755|SNOMEDCT_US:17366009|UMLS:C0085611 Primary atrial arrhythmia A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance. HP:0000361 obsolete Pulsatile tinnitus (tympanic paraganglioma) biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000361 HP:0000360 Tinnitus biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000360 UMLS:C0040264|SNOMEDCT_US:162349004|SNOMEDCT_US:162352007|MSH:D014012|SNOMEDCT_US:60862001 Ringing in ears|Ringing in the ears Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation. HP:0012320 Absent pigmentation of the limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012320 UMLS:C4022955 Lack of skin pigmentation (coloring) of the arms and legs. HP:0012321 D-2-hydroxyglutaric aciduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012321 SNOMEDCT_US:237960000|UMLS:C1833429 An increased concentration of 2-hydroxyglutaric acid in the urine. HP:0012322 Perifolliculitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012322 SNOMEDCT_US:83341004|UMLS:C0263006 Perifollicular inflammation Inflammation surrounding hair follicles. HP:0012323 Sleep myoclonus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012323 SNOMEDCT_US:34101000119105|UMLS:C0751352|MSH:D009207 Myoclonus that occurs during the initial phases of sleep. HP:0012324 Myeloid leukemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012324 SNOMEDCT_US:37810007|MSH:D007951|SNOMEDCT_US:188732008|SNOMEDCT_US:128934006|UMLS:C0023470 Myeloid leukaemia A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow. HP:0012325 Chronic myelomonocytic leukemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012325 MSH:D015477|UMLS:C0023480|SNOMEDCT_US:128831004|SNOMEDCT_US:127225006 Chronic myelomonocytic leukaemia A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement. HP:0012326 Abnormal celiac artery morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012326 UMLS:C4022954 Abnormal coeliac artery morphology|Abnormality of the celiac artery An anomaly of the celiac artery. HP:0025637 Vasospasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025637 Blood vessel spasm|Angiospasm|Vascular spasm Narrowing of an artery due to constriction of the blood vessels. HP:0000338 Hypomimic face biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000338 SNOMEDCT_US:248149005|UMLS:C1862474|UMLS:C0813217|UMLS:C4280635 Hypomimia|Decreased facial muscle movement|Dull facial expression|Decreased facial expressions A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation. HP:0000337 Broad forehead biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000337 UMLS:C1849089 Intertemporal widening|Increased bitemporal dimension|Increased bitemporal width|Broad forehead|Bitemporal widening|Increased width of the forehead|Wide forehead Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead. HP:0025638 Elevated urinary N-butyrylglycine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025638 An increased level of N-butyrylglycine in the urine. HP:0025639 Increased urinary zinc level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025639 An abnormally elevated amount of zinc in the urine, typically as assessed by a 24 hour urine collection. HP:0002999 Patellar dislocation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002999 MSH:D031222|UMLS:C1135812|SNOMEDCT_US:263029007 Dislocation of patella|Dislocated patellae|Dislocated kneecap The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove. HP:0001669 Transposition of the great arteries biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001669 SNOMEDCT_US:26146002|SNOMEDCT_US:204296002|UMLS:C3536741 Transposition of great vessels A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle. HP:0000339 Pugilistic facies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000339 UMLS:C1846011 Boxer-like facial appearance|Pugilistic facial appearance Coarse facial features reminiscent of those of a boxer. HP:0001662 Bradycardia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001662 MSH:D001919|SNOMEDCT_US:48867003|UMLS:C0428977 Brachycardia|Slow heartbeats A slower than normal heart rate (in adults, slower than 60 beats per minute). HP:0025630 Argininosuccinic aciduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025630 Increased amount of argininosuccinate in the urine. HP:0001663 Ventricular fibrillation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001663 UMLS:C0042510|MSH:D014693|SNOMEDCT_US:71908006 Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations. HP:0001660 Truncus arteriosus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001660 ICD-10:Q20.0|MSH:D014338|Fyler:0500|Fyler:500|UMLS:C0041206|UMLS:C4020867|SNOMEDCT_US:58140002 Persistant truncus arteriosus|Common arterial trunk 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. HP:0002991 Abnormality of fibula morphology biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002991 UMLS:C4025664 Abnormality of the calf bone An anomaly of the calf bone (fibula), one of the two bones of the calf. HP:0025631 Alpha-aminobutyric aciduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025631 Increased amount of alpha-aminobutyric acid in the urine. HP:0000331 Short chin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000331 UMLS:C3697248|UMLS:C1839323|SNOMEDCT_US:699439001 Decreased height of chin|Vertical deficiency of chin|Vertical hypoplasia of chin|Small chin|Short lower third of face|Short chin Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin. HP:0002992 Abnormality of tibia morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002992 UMLS:C4025663 Abnormality of the shankbone|Abnormality of the shinbone Abnormality of the tibia (shinbone). HP:0025632 Reduced reactive oxygen species production in neutrophils biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025632 HP:0025633 Abnormal ureter morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025633 A structural abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. HP:0002997 Abnormality of the ulna biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002997 UMLS:C4025662 An abnormality of the ulna bone of the forearm. HP:0001667 Right ventricular hypertrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001667 Fyler:3609|UMLS:C0162770|SNOMEDCT_US:89792004|MSH:D017380 Heart right ventricle hypertrophy In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal. HP:0025634 Abnormal ureter physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025634 A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. HP:0000336 Prominent supraorbital ridges biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000336 UMLS:C1842060|UMLS:C4280638|UMLS:C4280637|UMLS:C4280636|UMLS:C4280639 Supraorbital hyperostosis|Prominent supraorbital margins|Prominent supraorbital ridge|Hypertrophy of supraorbital ridge|Hypertrophy of supraorbital margins|Prominent brow|Protruding supraorbital ridge|Hyperplasia of supraorbital margins|Hyperplasia of supraorbital ridge Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones. HP:0025635 Ureteral polyp biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025635 NCIT:C4530 Polyp of the ureter|Ureter polyp A growth protruding from the mucous membrane of the ureter. Ureteral polyps can be attached to the ureter by a broad base or a thin stalk. HP:0001664 Torsade de pointes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001664 UMLS:C0040479|MSH:D016171|SNOMEDCT_US:31722008 Torsades de pointes A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG. HP:0002996 Limited elbow movement biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002996 UMLS:C1849955 Decreased elbow mobility|Limited elbow movement|Limited elbow mobility|Restricted elbow motion HP:0025636 Endometritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025636 Endometrial inflammation.|Inflammation of the inner lining of the uterus Inflammation of the inner lining of the uterus (endometrium). HP:0012327 Celiac artery compression biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012327 UMLS:C0152098|SNOMEDCT_US:9250002|UMLS:C4020693 Dunbar syndrome|Celiac axis syndrome|Median arcuate ligament syndrome|Coeliac artery compression Compression of the celiac artery. HP:0012328 Cementoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012328 MSH:D002485|UMLS:C0007659|SNOMEDCT_US:37258009|SNOMEDCT_US:23255001 An odontogenic tumor of the cementum of tooth. HP:0012329 Tufted angioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012329 SNOMEDCT_US:705155008|UMLS:C0346073|SNOMEDCT_US:254786000|MSH:C536924 Angioblastoma|Tufted hemangioma|Angioblastoma of Nakagawa|Hypertrophic hemangioma|Progressive capillary hemangioma A vascular tumor of the skin and subcutaneous tissues and characterized by slow angiomatous proliferation. HP:0002990 Fibular aplasia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002990 MEDDRA:10054882|UMLS:C1836186 Absent fibulae|Absent calf bone|Absent-hypoplastic fibulae Absence of the fibula. HP:0012310 Abnormal monocyte count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012310 UMLS:C0580319|SNOMEDCT_US:165541006|SNOMEDCT_US:165540007 Abnormal monocyte number An anomaly in the number of monocytes, which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells. HP:0012311 Monocytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012311 SNOMEDCT_US:19636003|UMLS:C0085702 High blood monocyte number An increased number of circulating monocytes. HP:0012312 Monocytopenia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012312 SNOMEDCT_US:165539005|UMLS:C0427544 Low blood monocyte number An decreased number of circulating monocytes. HP:0012313 Heberden's node biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012313 UMLS:C0018862|SNOMEDCT_US:371598009 Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically. HP:0012314 Bouchard's node biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012314 UMLS:C0263780|SNOMEDCT_US:20243008 Bony swelling of the proximal interphalangeal joint (PIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically. HP:0012315 Histiocytoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012315 MSH:D051642|SNOMEDCT_US:302843004|UMLS:C1509147|SNOMEDCT_US:128741006 A neoplasm containing histiocytes. HP:0000349 Widow's peak biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000349 UMLS:C1853486 Hairline point|Pointed hairline at front of head|Hairline peak|V-shaped frontal hairline|Pointed frontal hairline|Widow's peak Frontal hairline with bilateral arcs to a low point in the midline of the forehead. HP:0025626 Increased circulating oleate level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025626 An abnormally high concentration of oleic acid (oleate) in the blood circulation. HP:0000348 High forehead biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000348 UMLS:C2677762|UMLS:C0239676 High forehead|Tall forehead An abnormally increased height of the forehead. HP:0025627 Increased circulating octadecanoate level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025627 An abnormally high concentration of octadecanoate in the blood circulation. Octadecanoate is a fatty acid anion 18:0 that is the conjugate base of octadecanoic acid (stearic acid). HP:0025628 Increased circulating myristoleate level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025628 An abnormally high concentration of myristoleate in the blood circulation. HP:0001679 Abnormal aortic morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001679 UMLS:C4025756|Fyler:1453 Abnormality of the aorta|Abnormal aorta morphology An abnormality of the aorta. HP:0025629 Anti-myelin-associated glycoprotein antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025629 The presence of autoantibodies (immunoglobulins) in the serum that react against myelin-associated glycoprotein (MAG). HP:0000341 Narrow forehead biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000341 UMLS:C1839758 Intertemporal narrowing|Bitemporal narrowness|Bitemporal skull narrowing|Narrow bitemporal width|Bitemporal narrowing|Narrow forehead|Temporal narrowness|Decreased width of the forehead|Narrow bitemporal diameter Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective). HP:0001673 obsolete Tachycardia (with pheochromocytoma) biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001673 HP:0000340 Sloping forehead biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000340 UMLS:C1857679 Inclined forehead|Receding forehead|Posteriorly sloping forehead|Sloping forehead Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view. HP:0001674 Complete atrioventricular canal defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001674 Fyler:1120 Complete common AV canal|Common atrioventricular canal|Complete atrioventricular septal defect|Atrioventricular canal A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect. HP:0000343 Long philtrum biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000343 UMLS:C1865014 Increased vertical dimension of philtrum|Increased height of philtrum|Increased length of philtrum|Elongated philtrum|Vertical hyperplasia of philtrum Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. HP:0025620 Abnormal proportion of CD4+ central memory cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025620 Abnormal proportion of central memory CD4+, alpha-beta T 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. HP:0001671 Abnormal cardiac septum morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001671 UMLS:C0018816|SNOMEDCT_US:59494005|SNOMEDCT_US:253273004|MSH:D006343|SNOMEDCT_US:396351009 Abnormality of the cardiac septa|Septal defects|Heart septal defect An anomaly of the intra-atrial or intraventricular septum. HP:0025621 obsolete Increased proportion of CD4+ central memory cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025621 HP:0001677 Coronary artery atherosclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001677 MSH:D003324|SNOMEDCT_US:53741008|SNOMEDCT_US:414024009|UMLS:C1956346 Coronary disease|Plaque build-up in arteries supplying blood to heart|Coronary atherosclerosis Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia. HP:0025622 obsolete Decreased proportion of CD4+ central memory cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025622 HP:0025623 Abnormal proportion of CD4+ effector memory cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025623 Abnormal proportion of effector memory CD4-positive, alpha-beta T cells|Abnormal proportion of CD4-positive effector memory cells An abnormal proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-negative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. HP:0001678 Atrioventricular block biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001678 UMLS:C0004245|UMLS:C1841659|MSH:D054537|SNOMEDCT_US:233917008 Atrioventricular nodal disease|Interruption of electrical communication between upper and lower chambers of heart Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles. HP:0000347 Micrognathia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000347 Fyler:4163|UMLS:C1857130|UMLS:C0025990|SNOMEDCT_US:32958008|UMLS:C0240295|MSH:D008844 Hypoplastic mandible|Retrusion of lower jaw|Lower jaw deficiency|Underdevelopment of mandible|Mandibular retrusion|Lower jaw hypoplasia|Hypoplastic mandible condyle|Decreased size of mandible|Micromandible|Severe hypoplasia of mandible|Hypoplasia of mandible|Mandibular hypoplasia|Mandibular micrognathia|Hypoplasia of lower jaw|Robin mandible|Lower jaw retrusion|Decreased projection of lower jaw|Little mandible|Micrognathia of lower jaw|Small lower jaw|Hypotrophic mandible|Mandibular deficiency|Small jaw|Little lower jaw|Mandibular retrognathia|Decreased size of lower jaw|Decreased projection of mandible|Deficiency of lower jaw|Underdevelopment of lower jaw|Small mandible|Hypotrophic lower jaw Developmental hypoplasia of the mandible. HP:0025624 Reduced proportion of CD4+ effector memory T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025624 Decreased proportion of CD4+ effector memory T cells|Decreased proportion of effector memory CD4-positive, alpha-beta T cells|Decreased proportion of CD4-positive effector memory T cells An abnormally decreased proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-ngative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. HP:0001675 obsolete Rhythm disturbances associated with pheochromocytoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001675 HP:0001676 obsolete Palpitations (with pheochromocytoma) biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001676 HP:0025625 Elevated proportion of CD4+ effector memory T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025625 Increased proportion of CD4+ effector memory T cells|Increased proportion of effector CD4-positive, alpha-beta T cells|Increased proportion of CD4-positive effector memory T cells An abnormally increased proportion of effector memory CD4+ T cells. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells may have a CD3/CD4/CD62L-/CD45RA phenotype. HP:0000346 Whistling appearance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000346 UMLS:C1848473 Whistling appearance|Whistling facial appearance An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling. HP:0012316 Fibrous tissue neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012316 MSH:D018218|UMLS:C0206643 Any neoplasm composed of fibrous tissue. HP:0012317 Sacroiliac arthritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012317 MSH:C563037|UMLS:C0748473 Sacroiliitis Inflammation of the sacroiliac joint, generally accompanied by lower back pain. HP:0012318 Occipital neuralgia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012318 UMLS:C0007863|SNOMEDCT_US:71760005 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. HP:0012319 Absent pigmentation of the abdomen biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012319 UMLS:C4022956 Lack of skin pigmentation (coloring) of the abdomen. HP:0001670 Asymmetric septal hypertrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001670 UMLS:C0205700 Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray. HP:0012385 Camptodactyly biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0012385 UMLS:C0685409|SNOMEDCT_US:29271008 Permanent flexion of the finger or toe 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. HP:0011054 Agenesis of molar biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011054 UMLS:C4280348|UMLS:C4021203 Absent molars|Missing molar|Absence of molar|Failure of development of molar Agenesis of molar tooth. HP:0012386 Absent hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012386 UMLS:C1841686 Missing big toe|Absent big toe|Agenesis of the halluces|Aplasia of the hallux Aplasia of the hallux, that is, a development defect such that the big toe does not develop. HP:0011055 Agenesis of permanent molar biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011055 UMLS:C4023563|UMLS:C4280347 Absence of adult molar|Missing permanent molar|Failure of development of permanent molar|Missing adult molar|Agenesis of secondary molar|Failure of development of secondary molar|Absence of permanent molar Agenesis of secondary molar tooth. HP:0011056 Agenesis of first permanent molar tooth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011056 UMLS:C4023562|UMLS:C4280346 Missing six year molar|Absence of six year molar|Failure of development of first permanent molar|Missing first permanent molar|Failure of development of six year molar|Agenesis of six year molar|Absence of first permanent molar Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both. HP:0012387 Bronchitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012387 UMLS:C0006277|MSH:D001991|SNOMEDCT_US:32398004 Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi. HP:0011057 Agenesis of second permanent molar biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011057 UMLS:C4280257|UMLS:C4023561 Missing twelve year molar|Failure of development of second permanent molar|Absence of twelve year molar|Failure of development of twelve year molar|Missing second permanent molar|Agenesis of twelve year molar|Absence of second permanent molar Agenesis of either mandibular second permanent molar or maxillary second permanent molar. HP:0012388 Acute bronchitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012388 UMLS:C0149514|SNOMEDCT_US:35301006|SNOMEDCT_US:10509002 Inflammation of the large airways of the lung with rapid onset and short course usually associated with cough, mucus production, shortness of breath, wheezing, and chest tightness. HP:0011058 Generalized periodontitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011058 UMLS:C4280345|UMLS:C4023560 Generalised periodontitis|Widespread gum disease|Generalized gum disease|Generalized periodontal disease A generalized form of periodontitis. HP:0012389 Appendicular hypotonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012389 UMLS:C4022919 Muscular hypotonia of one or more limbs. HP:0011059 Localized periodontitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011059 UMLS:C4280344|UMLS:C4023559 Localized periodontal disease|Limited area of gum disease|Localized gum disease|Localised periodontitis A localized form of periodontitis. HP:0410309 Alpha-aminoadipic aciduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410309 2-aminoadipic aciduria A increased concentration of alpha-aminoadipic acid in the urine. HP:0410308 Decreased specific antibody response to infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410308 A reduced ability to synthesize antibodies against antigens from an infectious agent or pathogen (such as bacteria, viruses, parasites, etc.), as measured by antibody titer determination following infection. HP:0410307 Positive stool methadone test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410307 Detection of methadone and its metabolites in the stool. HP:0012380 Reduced carnitine O-palmitoyltransferase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012380 UMLS:C4022921 Reduced carnitine O-palmitoyltransferase level, leading to a reduced activity of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine. HP:0011050 Agenesis of permanent maxillary lateral incisor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011050 UMLS:C4280352|UMLS:C4023567 Failure of development of permanent maxillary lateral incisor|Agenesis of permanent upper lateral incisor|Failure of development of permanent upper lateral incisor|Absence of permanent maxillary lateral incisor|Missing permanent maxillary lateral incisor|Missing permanent upper lateral incisor Agenesis of one or more upper lateral secondary incisor. HP:0012381 Delayed self-feeding during toddler years biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012381 UMLS:C4022920 A delay in the development of skills required to feed oneself in the toddler period (between one and three years of age). HP:0012382 Left-to-right shunt biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012382 UMLS:C0428870|SNOMEDCT_US:66130006 Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right. HP:0011051 Agenesis of premolar biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011051 UMLS:C4280351|UMLS:C4023566 Absence of premolar|Missing premolar|Absence of bicuspid|Missing bicuspid|Failure of development of bicuspid|Agenesis of bicuspid|Failure of development of premolar Agenesis of premolar tooth. HP:0011052 Agenesis of maxillary premolar biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011052 UMLS:C4280350|UMLS:C4023565 Failure of development of maxillary bicuspid|Absence of maxillary bicuspid|Missing maxillary premolar|Absence of maxillary premolar|Agenesis of maxillary bicuspid|Failure of development of maxillary premolar|Missing upper premolar|Absence of upper premolar|Missing upper bicuspid Agenesis of maxillary premolar. HP:0012383 Bidirectional shunt biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012383 UMLS:C0428872|SNOMEDCT_US:13352000 Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from both right side of the heart to the left and vice versa. HP:0011053 Agenesis of mandibular premolar biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011053 UMLS:C4280349|UMLS:C4023564 Failure of development of mandibular premolar|Missing lower premolar|Absence of mandibular premolar|Absence of lower premolar|Missing mandibular premolar Agenesis of mandibular premolar. HP:0012384 Rhinitis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0012384 MSH:D012220|UMLS:C2718128|UMLS:C0035455|SNOMEDCT_US:70076002 Nasal inflammation Inflammation of the nasal mucosa with nasal congestion. HP:0000396 Overfolded helix biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000396 UMLS:C1837731 Over-folded helices|Overfolded helices|Overfolded ears A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear. HP:0410302 Decreased specific antibody response to protein-conjugated polysaccharide vaccine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410302 A reduced ability to synthesize postvaccination antibodies against protein-conjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination. HP:0410301 Partial absence of specific antibody response to unconjugated pneumococcus vaccine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410301 A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination. HP:0000395 Prominent antihelix biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000395 UMLS:C1845272 The presence of an abnormally prominent antihelix. HP:0410300 Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410300 The inability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination. HP:0410306 Partial absence of specific antibody response to meningococcus vaccine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410306 A reduced ability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination. HP:0000399 Prelingual sensorineural hearing impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000399 UMLS:C4021806 Prelingual sensorineural deafness|Deafness, sensorineural, prelingual A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech. HP:0410305 Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410305 A reduced ability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination. HP:0410304 Complete or near-complete absence of specific antibody response to meningococcus vaccine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410304 The inability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination. HP:0410303 Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410303 The inability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination. HP:0000391 Thickened helices biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000391 UMLS:C1837732 Thick helix Increased thickness of the helix of the ear. HP:0000394 Lop ear biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000394 SNOMEDCT_US:76223006|UMLS:C0266614 Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha. HP:0011043 Abnormality of circulating adrenocorticotropin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011043 UMLS:C4023574 Abnormality of circulating adrenocorticotropic hormone level|Abnormality of circulating ACTH level|Abnormality of circulating adrenocorticotropin level|Abnormality of circulating corticotropin level An abnormal concentration of corticotropin in the blood. HP:0012374 obsolete Abnormal globe morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012374 HP:0011044 Abnormal number of permanent teeth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011044 UMLS:C4023573 Abnormal number of secondary dentition|Abnormal permanent tooth count|Abnormal number of permanent teeth|Abnormal number of adult teeth|Abnormal complement of permanent teeth The presence of an altered number of of permanent teeth. HP:0012375 Chemosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012375 SNOMEDCT_US:8148005|UMLS:C0271298 Edema (swelling) of the bulbar conjunctiva. HP:0011045 Agenesis of permanent maxillary central incisor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011045 UMLS:C4023572|UMLS:C4280359|UMLS:C4280358 Missing adult upper central incisor|Absence of permanent maxillary central incisor|Missing permanent maxillary central incisor|Absence of permanent upper central incisor|Missing permanent upper central incisor|Agenesis of adult maxillary central incisor|Absence of permanent upper front tooth|Failure of development of permanent maxillary central incisor|Missing permanent upper front tooth Agenesis of upper secondary incisor. HP:0012376 Microphakia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0012376 SNOMEDCT_US:35272001|UMLS:C0266541 Small lens Abnormal smallness of the lens. HP:0012377 Hemianopia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012377 MSH:D006423|SNOMEDCT_US:77674003|UMLS:C0018979 Hemianopsia Partial or complete loss of vision in one half of the visual field of one or both eyes. HP:0011046 Agenesis of primary maxillary central incisor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011046 UMLS:C4280357|UMLS:C4023571 Failure of development of deciduous maxillary central incisor|Missing upper front milk tooth|Missing primary maxillary central incisor|Absence of primary maxillary central incisor|Absence of upper front baby tooth|Missing upper front baby tooth|Missing deciduous maxillary central incisor|Absence of deciduous maxillary central incisor|Agenesis of deciduous maxillary central incisor|Failure of development of primary maxillary central incisor Agenesis of upper central primary incisor. HP:0011047 Agenesis of primary mandibular central incisor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011047 UMLS:C4280356|UMLS:C4023570|UMLS:C4280355 Missing lower front milk tooth|Absence of deciduous mandibular central incisor|Missing deciduous mandibular central incisor|Missing lower central incisor milk tooth|Agenesis of primary lower central incisor|Absence of primary mandibular central incisor|Failure of development of deciduous mandibular central incisor|Missing lower front baby tooth|Missing primary mandibular central incisor|Agenesis of deciduous lower central incisor|Missing lower front primary tooth|Failure of development of primary mandibular central incisor Agenesis of lower primary incisor. HP:0012378 Fatigue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012378 SNOMEDCT_US:248274002|SNOMEDCT_US:84229001|UMLS:C0015672|MSH:D005221 Malaise|Tired|Tiredness|Fatigue A subjective feeling of tiredness characterized by a lack of energy and motivation. HP:0011048 Agenesis of permanent mandibular central incisor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011048 UMLS:C4280354|UMLS:C4023569 Missing permanent lower central incisor|Absence of permanent lower central incisor|Missing permanent lower front tooth|Absence of permanent lower front tooth|Failure of development of permanent mandibular central incisor|Missing permanent mandibular central incisor|Absence of permanent mandibular central incisor|Missing adult lower central incisor|Agenesis of adult mandibular central incisor Agenesis of lower secondary incisor. HP:0012379 Abnormal enzyme/coenzyme activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012379 UMLS:C4022922 An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme. HP:0011049 Agenesis of primary maxillary lateral incisor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011049 UMLS:C4280353|UMLS:C4023568 Missing primary maxillary lateral incisor|Absence of primary maxillary lateral incisor|Missing deciduous maxillary lateral incisor|Absence of deciduous maxillary lateral incisor|Failure of development of primary maxillary lateral incisor|Agenesis of deciduous maxillary lateral incisor|Failure of development of deciduous maxillary lateral incisor Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor. HP:0012370 Prominence of the zygomatic bone biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0012370 SNOMEDCT_US:427888001|UMLS:C0375511|UMLS:C1997760|UMLS:C4082245 Prominence of cheekbone|Pronounced cheekbone|Hyperplasia of zygomatic bone|Zygomatic bone excess|Malar hypertrophy|Cheekbone prominence|Zygomatic hypertrophy|Cheekbone excess|Hyperplasia of cheekbone Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones'. HP:0012371 Hyperplasia of midface biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0012371 UMLS:C0240309 Big midface|Large midface|Midfacial excess|Hypertrophy of midface|Midfacial prominence|Midface hyperplasia|Overgrowth of the midface Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face HP:0011040 Abnormality of the intrahepatic bile duct biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011040 UMLS:C4023577 An abnormality of the intrahepatic bile duct. HP:0012372 Abnormal eye morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012372 Fyler:4863|UMLS:C4022925 Abnormal eye structure|Abnormally shaped eye|Abnormality of the globe A structural anomaly of the globe of the eye, or bulbus oculi. HP:0011041 Aplasia/Hypoplasia of the cervical spine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011041 UMLS:C4023576 Absent/small cervical spine|Absent/underdeveloped cervical spine Aplasia or developmental hypoplasia of the cervical vertebral column. HP:0011042 Abnormal blood potassium concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011042 UMLS:C4023575 Abnormality of potassium homeostasis|Abnormal blood K concentration An abnormal concentration of potassium. HP:0012373 Abnormal eye physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012373 UMLS:C4022924 Abnormal eye physiology A functional anomaly of the eye. HP:0011032 Abnormality of fluid regulation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011032 SNOMEDCT_US:1860003|UMLS:C2364164|SNOMEDCT_US:190902006 Abnormality of fluid regulation|Fluid imbalance An abnormality of the regulation of body fluids. HP:0012363 Decreased sialylation of O-linked protein glycosylation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012363 UMLS:C4022928 An reduced addition of sialic acids to O-linked glycans. HP:0012364 Decreased urinary potassium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012364 SNOMEDCT_US:54781007|UMLS:C0268024 Decreased urinary K|Hypokaluria|Low urine potassium levels A decreased concentration of potassium(1+) in the urine. HP:0011033 Impairment of fructose metabolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011033 UMLS:C4023581 An impairment of a fructose metabolic process. HP:0012365 Hypophosphaturia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012365 UMLS:C0268077|SNOMEDCT_US:91632005 Low urine phosphate levels An abnormally decreased phosphate concentration in the urine. HP:0011034 Amyloidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011034 MSH:D000686|SNOMEDCT_US:17602002|UMLS:C0002726 Amyloid disease 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. HP:0011035 Abnormal renal cortex morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011035 UMLS:C4023580 Abnormality of renal cortex morphology An abnormality of the cortex of the kidney. HP:0012366 Basilar invagination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012366 UMLS:C3887851 Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain's line) or the tip of the dens is greater than 7 mm above McGregor's line (the back of the hard palate to the lowest point of the occipital squama). HP:0011036 Abnormality of renal excretion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011036 MP:0005555|UMLS:C4023579 An altered ability of the kidneys to void urine and/or specific substances. HP:0012367 Extra fontanelles biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0012367 UMLS:C4022927 Bony defects situated along the cranial suture lines or at the junction of the bone plates of the skull. HP:0012368 Flat face biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0012368 UMLS:C1853241 Flat face|Flat facies|Flat facial profile|Flat facial shape Absence of concavity or convexity of the face when viewed in profile. HP:0011037 Decreased urine output biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011037 UMLS:C3887784 A decreased rate of urine production. HP:0011038 Abnormality of renal resorption biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011038 UMLS:C4023578 An abnormality of renal absorption. HP:0012369 Abnormality of malar bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012369 UMLS:C4022926 Malar anomaly|Deformity of the malar bones|Malformation of the malar bones|Anomaly of the malar bones An abnormality of the malar surface of the zygomatic bone and including the frontal process of maxilla. HP:0011039 Abnormality of the helix biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011039 UMLS:C1856660 Abnormal helices|Helix abnormal 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. HP:0410329 Gluten allergy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410329 IgE-mediated gluten allergy|Gluten allergy|Immunoglobulin E-mediated gluten allergy|Allergy to gluten Hypersensitivity in form of an adverse immune reaction against gluten. HP:0012360 Decreased fucosylation of O-linked protein glycosylation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012360 UMLS:C4022931 A reduction of the addition of fucose sugar units to O-linked glycans. HP:0012361 Increased fucosylation of O-linked protein glycosylation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012361 UMLS:C4022930 Increased addition of fucose sugar units to O-linked glycans. HP:0011030 Abnormal blood transition element cation concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011030 UMLS:C4023584 Abnormality of transition element cation homeostasis An abnormality of the homeostasis (concentration) of transition element cation. HP:0012362 Abnormal sialylation of O-linked protein glycosylation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012362 UMLS:C4022929 An anomaly of the addition of sialic acids to O-linked glycans. HP:0011031 Abnormality of iron homeostasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011031 UMLS:C4023583 An abnormality of the homeostasis (concentration) of iron cation. HP:0410324 Dust mite allergy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410324 Dust mite allergy|Allergy to dust mites|Immunoglobulin E-mediated dust mite allergy|IgE-mediated dust mite allergy Hypersensitivity in form of an adverse immune reaction against dust mites. HP:0410323 Drug allergy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410323 IgE-mediated drug allergy|Drug allergy|Immunoglobulin E-mediated drug allergy|Allergy to drugs Hypersensitivity in form of an adverse immune reaction against drugs. HP:0000376 Incomplete partition of the cochlea type II biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000376 UMLS:C1857078|UMLS:C4025857 Mondini malformation IWith incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation. HP:0410322 Bacteria allergy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410322 IgE-mediated bacteria allergy|Immunoglobulin E-mediated bacteria allergy|Bacteria allergy|Allergy to bacteria Hypersensitivity in form of an adverse immune reaction against bacteria. HP:0000375 Abnormal cochlea morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000375 UMLS:C4025858 Abnormality of cochlea An abnormality of the cochlea. HP:0410321 Animal dander allergy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410321 Allergy to animal dander|Immunoglobulin E-mediated animal dander allergy|Animal dander allergy|IgE-mediated animal dander allergy Hypersensitivity in form of an adverse immune reaction against animal dander. HP:0000378 Cupped ear biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000378 UMLS:C1845447|UMLS:C4020892 Capuchin ears|Simple, cup-shaped ears|Cupped ears|Cup-shaped ears|Cupped ear Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura). HP:0410328 Egg allergy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410328 Egg allergy|Allergy to eggs|Immunoglobulin E-mediated egg allergy|IgE-mediated egg allergy Hypersensitivity in form of an adverse immune reaction against eggs. HP:0000377 Abnormality of the pinna biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000377 UMLS:C0431483|UMLS:C0857379|SNOMEDCT_US:253255002 Malformation of auricle|Poorly defined conchae|Malformed auricles|Dysplastic ears|Abnormal form of ears|Deformed auricles|Abnormally shaped ears|Minor malformation of the auricles|Malformed ears|Malformed external ears|Deformed ears|Auricular malformation An abnormality of the pinna, which is also referred to as the auricle or external ear. HP:0410327 Dairy allergy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410327 Allergy to dairy|Dairy allergy|Immunoglobulin E-mediated dairy allergy|IgE-mediated dairy allergy Hypersensitivity in form of an adverse immune reaction against dairy. HP:0410326 Feather allergy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410326 Feather allergy|Allergy to feathers|Immunoglobulin E-mediated feather allergy|IgE-mediated feather allergy Hypersensitivity in form of an adverse immune reaction against feathers. HP:0410325 House dust mite allergy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410325 House dust mite allergy|Immunoglobulin E-mediated house dust mite allergy|Allergy to house dust mites|IgE-mediated house dust mite allergy Hypersensitivity in form of an adverse immune reaction against house dust mites. HP:0410320 Animal protein allergy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410320 Allergy to animal proteins|IgE-mediated animal protein allergy|Immunoglobulin E-mediated animal protein allergy|Animal protein allergy Hypersensitivity in form of an adverse immune reaction against animal proteins. HP:0000370 Abnormality of the middle ear biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000370 UMLS:C1861141 Middle ear abnormalities|Middle ear abnormality An abnormality of the middle ear. HP:0000372 Abnormality of the auditory canal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000372 UMLS:C4021807 Auditory canal abnormality An abnormality of the External acoustic tube (also known as the auditory canal). HP:0000371 Acute otitis media biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000371 UMLS:C0271429|SNOMEDCT_US:3110003 Acute middle ear infection Acute otitis media is a short and generally painful infection of the middle ear. HP:0012352 Abnormal fucosylation of protein N-linked glycosylation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012352 UMLS:C4022939 An anomaly of the addition of fucose sugar units to N-linked glycans. HP:0011021 Abnormality of circulating enzyme level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011021 UMLS:C4023591 HP:0012353 Decreased fucosylation of N-linked protein glycosylation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012353 UMLS:C4022938 Decreased addition of fucose sugar units to N-linked glycans. HP:0011022 Abnormal circulating unsaturated fatty acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011022 UMLS:C4023590 A deviation from the normal concentration of an unsaturated fatty acid in the blood circulation. HP:0012354 Increased fucosylation of N-linked protein glycosylation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012354 UMLS:C4022937 Increased addition of fucose sugar units to N-linked glycans. HP:0011023 Abnormal circulating prostaglandin circulation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011023 UMLS:C4023589 Any deviation from the normal concentration of a prostaglandin in the blood circulation. HP:0011024 Abnormality of the gastrointestinal tract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011024 SNOMEDCT_US:25374005|SNOMEDCT_US:53619000|SNOMEDCT_US:119292006|MSH:D004066|UMLS:C0017178|UMLS:C4023588|MSH:D005767|UMLS:C0012242 Abnormality of the gastrointestinal tract|Abnormality of the GI tract|Digestive system disease|Gastrointestinal disease An abnormality of the gastrointestinal tract. HP:0012355 Abnormal mannosylation of N-linked protein glycosylation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012355 UMLS:C4022936 An anomaly of the addition of mannose to N-linked glycans. HP:0011025 Abnormal cardiovascular system physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011025 UMLS:C4023587 Abnormality of cardiovascular system physiology Abnormal functionality of the cardiovascular system. HP:0012356 Decreased mannosylation of N-linked protein glycosylation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012356 UMLS:C4022935 Reduced addition of mannose to N-linked glycans. HP:0011026 Aplasia/Hypoplasia of the vagina biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011026 UMLS:C4023586 Absent/small vagina|Absent/underdeveloped vagina Aplasia or developmental hypoplasia of the vagina. HP:0012357 Increased mannosylation of N-linked protein glycosylation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012357 UMLS:C4022934 Increased addition of mannose to N-linked glycans. HP:0012358 Abnormal protein O-linked glycosylation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012358 UMLS:C4022933 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. HP:0011027 Abnormal fallopian tube morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011027 UMLS:C0281842 Abnormality of the fallopian tube An abnormality of the fallopian tube. HP:0012359 Abnormal fucosylation of O-linked protein glycosylation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012359 UMLS:C4022932 An anomaly of the addition of fucose sugar units to O-linked glycans. HP:0011028 Abnormality of blood circulation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011028 UMLS:C4020760|UMLS:C4023585 Blood circulation disorder An abnormality of blood circulation. HP:0410319 Alpha-gal allergy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410319 Allergy to alpha-gal|Immunoglobulin E-mediated alpha-gal allergy|Alpha-gal allergy|IgE-mediated alpha-gal allergy Hypersensitivity in form of an adverse immune reaction against alpha-gal. HP:0410318 Decreased urinary 3-methylhistidine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410318 Decreased concentration of 3-methylhistidine in the urine. HP:0012350 Decreased sialylation of N-linked protein glycosylation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012350 UMLS:C4022941 Decreased addition of sialic acids to N-linked glycans. HP:0011020 Abnormality of mucopolysaccharide metabolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011020 UMLS:C4023592 An abnormality of the metabolism of mucopolysaccharide. HP:0012351 Increased sialylation of N-linked protein glycosylation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012351 UMLS:C4022940 Increased addition of sialic acids to N-linked glycans. HP:0410313 Abnormal urinary 1-methylhistidine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410313 Abnormal concentration of 1-methylhistidine in the urine. HP:0000385 Small earlobe biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000385 UMLS:C1842680 Hypoplastic lobules|Hypoplastic earlobes|Small earlobes|Small earlobe Reduced volume of the earlobe. HP:0000384 Preauricular skin tag biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000384 UMLS:C4072826|UMLS:C1860816 Preauricular tag|Periauricular skin tag|Skin tag in front of the ear|Preauricular acrochordon|Skin tag on the posterior cheek|Preauricular fibroepithelial polyp|Preauricular skin tags|Ear tag|Preauricular tags A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear). HP:0410312 Hypersegmentation of neutrophil nuclei in CSF biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410312 Hypersegmentation of neutrophil nuclei in cerebrospinal fluid An excessive division of the lobes of the nucleus of a neutrophil in the cerebrospinal fluid. HP:0000387 Absent earlobe biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000387 UMLS:C1849364 Lobeless ears|Absent ear lobes|Absent earlobe|Earlobe, absent Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura. HP:0410311 Hyposegmentation of neutrophil nuclei in CSF biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410311 Hyposegmentation of neutrophil nuclei in cerebrospinal fluid Hyposegmented (hypolobulated) or bilobed neutrophil nuclei in the cerebrospinal fluid. HP:0410310 Abnormality of neutrophil morphology in CSF biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410310 Abnormality of neutrophil morphology in cerebrospinal fluid An abnormal form or size of neutrophils in the cerebrospinal fluid. HP:0000389 Chronic otitis media biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000389 SNOMEDCT_US:21186006|UMLS:C0743359|UMLS:C0271441 Chronic middle ear infection|Chronic ear infection|Chronic infections of the middle ear|Otitis media, chronic Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear. HP:0410317 Increased urinary 3-methylhistidine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410317 3-Methylhistidinuria Increased concentration of 3-methylhistidine in the urine. HP:0000388 Otitis media biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000388 SNOMEDCT_US:65363002|UMLS:C0029882|MSH:D010033 Middle ear infection Inflammation or infection of the middle ear. HP:0410316 Abnormal urinary 3-methylhistidine level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410316 Abnormal amount of 3-methylhistidine in the urine. HP:0410315 Increased urinary 1-methylhistidine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410315 1-Methylhistidinuria Increased concentration of 1-methylhistidine in the urine. HP:0410314 Decreased urinary 1-methylhistidine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410314 Decreased concentration of 1-methylhistidine in the urine. HP:0011029 Internal hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011029 UMLS:C1390214 Internal haemorrhage|Internal bleeding The presence of hemorrhage within the body. HP:0000381 Stapes ankylosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000381 UMLS:C1861326 Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles). HP:0000383 Abnormality of periauricular region biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000383 UMLS:C4025856 Abnormality of the region around the ear|Anomaly of the periauricular region|Malformation of the periauricular region|Deformity of the periauricular region HP:0012500 Verrucous papule biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012500 UMLS:C4022877 Papillomatous papule A wartlike (with multiple small elevated projections) papule. HP:0012501 Abnormality of the brainstem white matter biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012501 UMLS:C4022876 An anomaly of the white matter of brainstem. HP:0012502 Abnormality of the internal capsule biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012502 UMLS:C4022875 An anomaly of the internal capsule, which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus. HP:0000514 Slow saccadic eye movements biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000514 UMLS:C1321329|SNOMEDCT_US:404686001 Slow saccades|Slow visual tracking|Slow eye movements An abnormally slow velocity of the saccadic eye movements. HP:0001847 Long hallux biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001847 UMLS:C1864375 Large halluces|Long halluces|Long big toe|Increased length of the hallux Increased length of the big toe. HP:0001844 Abnormality of the hallux biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001844 UMLS:C4021773 Abnormality of the big toe|Abnormalities of the hallux This term applies for all abnormalities of the big toe, also called hallux. HP:0001845 Overlapping toe biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001845 SNOMEDCT_US:203541003|UMLS:C0920299 Overriding toes|Overlapping toes|Overlapping toe|Crossover toe Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. HP:0000518 Cataract biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000518 Fyler:4865|MSH:D002386|UMLS:C1510497|UMLS:C0086543|SNOMEDCT_US:128306009|SNOMEDCT_US:247053007|SNOMEDCT_US:193570009 Cataracts|Clouding of the lens of the eye|Lens opacities|Cloudy lens|Lens opacity A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. HP:0000517 Abnormality of the lens biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000517 UMLS:C0023308|UMLS:C0549651|MSH:D007905|SNOMEDCT_US:10810001 Lens disease|Abnormality of the lens|Lens issue An abnormality of the lens. HP:0001848 Calcaneovalgus deformity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001848 UMLS:C1860450 Calcaneovalgus Foot|Calcaneovalgus|Foot and ankle bend up toward shin of leg|Valgus position of the calcaneus This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus). HP:0000519 Developmental cataract biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000519 SNOMEDCT_US:609587005|SNOMEDCT_US:79410001|UMLS:C0009691|UMLS:C3277059 Congenital cataracts|Bilateral congenital cataracts|Congenital cataracts, bilateral|Cataract, congenital|Clouding of the lens of the eye at birth|Congenital cataract A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens. HP:0001849 Foot oligodactyly biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001849 UMLS:C0426934|SNOMEDCT_US:249820005 Oligodactyly of feet|Missing toes A developmental defect resulting in the presence of fewer than the normal number of toes. HP:0000510 Rod-cone dystrophy biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000510 SNOMEDCT_US:28835009|UMLS:C0035334|MSH:D012174 Rod cone dystrophy|Retinitis pigmentosa An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones. HP:0001842 Foot acroosteolysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001842 UMLS:C4025744 Acroosteolysis of feet HP:0000512 Abnormal electroretinogram biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000512 SNOMEDCT_US:274524001|UMLS:C0476397 Abnormal ERG|ERG abnormal|Abnormal electroretinography Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography. HP:0001840 Metatarsus adductus biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001840 SNOMEDCT_US:77599005|UMLS:C4082169|MSH:D000070592|UMLS:C0231791 Intoe|Forefoot varus|Front half of foot turns inward|Metatarsus varus|Metatarsus adductovarsus The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body. HP:0001841 Preaxial foot polydactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001841 MSH:C566632|UMLS:C2112942|UMLS:C1866339 Preaxial hallucal polydactyly|Preaxial polydactyly, feet|Partial/complete duplication of the phalanges of the big toe|Polydactyly affecting the hallux|Preaxial polydactyly of the feet|Preaxial polydactyly of foot|Preaxial polydactyly of feet Duplication of all or part of the first ray. HP:0000511 Vertical supranuclear gaze palsy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000511 UMLS:C1843369|UMLS:C0339652|SNOMEDCT_US:246773002 Vertical gaze palsy A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. HP:0012503 Abnormality of the pituitary gland biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012503 UMLS:C0032002|SNOMEDCT_US:399244003|MSH:D010900 disorder of pituitary gland An anomaly of the pituitary gland. HP:0012504 Abnormal size of pituitary gland biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012504 UMLS:C4022874 A deviation from the normal size of the pituitary gland. HP:0012505 Enlarged pituitary gland biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012505 UMLS:C0342422|SNOMEDCT_US:237718009 An abnormally increased size of the pituitary gland. HP:0012506 Small pituitary gland biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012506 UMLS:C4022873 An abnormally decreased size of the pituitary gland. HP:0012507 Weakness of orbicularis oculi muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012507 UMLS:C1839030 Weakness of orbicularis oculi muscles Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid. HP:0012508 Metamorphopsia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012508 UMLS:C0271185|MSH:D014786|SNOMEDCT_US:42134006 A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank. HP:0012509 Reduced thyroxin-binding globulin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012509 UMLS:C4022872 An abnormally decreased amount of thyroxin-binding globulin (TBG) in blood. TBG is responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream. HP:0001857 Short distal phalanx of toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001857 UMLS:C4021771 Hypoplastic distal phalanges of feet|Short outermost bone of toe Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe. HP:0000525 Abnormality iris morphology biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000525 UMLS:C4025845 Abnormality of the iris 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. HP:0000524 Conjunctival telangiectasia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000524 UMLS:C0239105|SNOMEDCT_US:231870008 Telangiectasia, conjunctival|Small dilated blood vessels near membrane covering front of eye and eyelids|Conjunctival telangiectases The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva. HP:0000527 Long eyelashes biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000527 UMLS:C1853738 Unusually long eyelashes|Ciliary trichomegaly|Increased length of eyelashes|Long eyelashes|Eyelash trichomegaly Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective). HP:0000526 Aniridia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000526 UMLS:C0003076|MSH:D015783|SNOMEDCT_US:69278003 Absent iris Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris. HP:0000529 Progressive visual loss biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000529 UMLS:C3277697|UMLS:C1839364 Loss of visual acuity|Progressive loss of vision|Slowly progressive visual loss|Visual loss, progressive|Vision loss, progressive|Progressive visual acuity loss|Decreased visual acuity, progressive|Progressive visual impairment|Progressive vision loss A reduction of previously attained ability to see. HP:0000528 Anophthalmia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000528 SNOMEDCT_US:204099004|SNOMEDCT_US:7183006|MSH:D000853|Fyler:4864|UMLS:C0003119 Missing globe of eye|Failure of development of eyeball|Ocular absence|Clinical anophthalmia, unilateral/bilateral|Missing eyeball|No eyeball|Absence of globes of eyes|Absence of eyeballs|No globe of eye|Anophthalmia, clinical Absence of the globe or eyeball. HP:0001859 Distal foot symphalangism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001859 UMLS:C4025743 HP:0001850 Abnormality of the tarsal bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001850 UMLS:C1862136 Abnormal tarsals|Abnormal ankle 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. HP:0001853 Bifid distal phalanx of toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001853 UMLS:C4021772 Bifid terminal phalanx of toe|Bifid distal phalanges of toes|Notched outermost bones of toes HP:0001854 Podagra biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001854 UMLS:C0221168|SNOMEDCT_US:67148009 Gout of big toe Gout affecting the Metatarsophalangeal joint of big toe. HP:0000520 Proptosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000520 UMLS:C1848490|UMLS:C1862425|SNOMEDCT_US:18265008|UMLS:C0015300|MSH:D005094|UMLS:C1837760 Prominent eyes|Protrusio bulbi|Ocular proptosis|Anterior bulging of the globe of eye|Prominent globes|Exophthalmos|Protruding eyes|Anterior bulging of the globe|Eyeballs bulging out|Bulging eye An eye that is protruding anterior to the plane of the face to a greater extent than is typical. HP:0000523 Subcapsular cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000523 SNOMEDCT_US:95723009|UMLS:C0235259 Subcapsular lenticular cataracts|Subcapsular opacities|Subcapsular cataracts A cataract that affects the region of the lens directly beneath the capsule of the lens. HP:0000522 Alacrima biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000522 SNOMEDCT_US:253215004|UMLS:C0344505|MSH:C562827 Absent lacrimal fluids|Absence of tears in the eyes|Absent tear secretion Absence of tear secretion. HP:0001852 Sandal gap biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001852 UMLS:C1840069 Increased space between first and second toes|Wide space between 1st, 2nd toes|Widened gap 1st-2nd toes|Wide-spaced big toe|Widened gap first and second toe|Space between great toe and second toe|Widely spaced 1st-2nd toes|Gap between 1st and 2nd toes|Widely spaced first and second toes|Gap between first and second toe|Wide space between first and second toes|Sandal gap between first and second toes A widely spaced gap between the first toe (the great toe) and the second toe. HP:0001824 Weight loss biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001824 SNOMEDCT_US:161832001|UMLS:C1262477|SNOMEDCT_US:262285001|MSH:D015431|SNOMEDCT_US:89362005 Reduction inexisting body weight. HP:0001822 Hallux valgus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001822 UMLS:C0006386|SNOMEDCT_US:415692008|MSH:D000071378|UMLS:C0018536|MSH:D006215|SNOMEDCT_US:122480009 Lateral deviation of halluces|Lateral deviation of great toe|Bunion Lateral deviation of the great toe (i.e., in the direction of the little toe). HP:0001829 Foot polydactyly biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001829 SNOMEDCT_US:62218008|UMLS:C0158734 Duplication of bones of the toes|Polydactyly of feet|Polydactyly of the foot A kind of polydactyly characterized by the presence of a supernumerary toe or toes. HP:0001827 Genital tract atresia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001827 UMLS:C4025746 Congenital occlusion of a tube in the genital tract. HP:0001820 Leukonychia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001820 SNOMEDCT_US:111202002|UMLS:C0240182|MEDDRA:10050658 White discoloration of nails White discoloration of the nails. HP:0001821 Broad nail biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001821 UMLS:C1843112 Broad fingernails|Broad nail|Wide fingernails Increased width of nail. HP:0000503 Tortuosity of conjunctival vessels biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000503 UMLS:C1855391 The presence of an increased number of twists and turns of the conjunctival blood vessels. HP:0000502 Abnormal conjunctiva morphology biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000502 UMLS:C4025847 An abnormality of the conjunctiva. HP:0001836 Camptodactyly of toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001836 UMLS:C4021774 Camptodactyly of feet Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes. HP:0000505 Visual impairment biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000505 MSH:D015354|MSH:D014786|SNOMEDCT_US:246635007|SNOMEDCT_US:397540003|SNOMEDCT_US:7973008|UMLS:C0042798|UMLS:C3665347 Impaired vision|Poor vision|Visual impairment|Loss of eyesight Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. HP:0001833 Long foot biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001833 UMLS:C0576225|SNOMEDCT_US:299462005 Disproportionately large feet|large feet|Long foot|long feet Increased back to front length of the foot. HP:0000504 Abnormality of vision biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000504 UMLS:C4025846 Vision issue|Abnormality of sight|Abnormality of vision Abnormality of eyesight (visual perception). HP:0001839 Split foot biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001839 UMLS:C0432028|SNOMEDCT_US:205358006 Split-foot|Lobster-claw foot deformity|Foot ectrodactyly|Split foot A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet. HP:0000506 Telecanthus biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000506 MSH:C562941|SNOMEDCT_US:246803005|UMLS:C0423113 Increased distance between medial canthi|Increased intercanthal distance|Dystopia canthorum|Corners of eye widely separated Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. HP:0001837 Broad toe biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001837 UMLS:C1865038 Wide toe|Broad toe Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension. HP:0000509 Conjunctivitis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000509 UMLS:C1864156|MSH:D003231|UMLS:C0009763|SNOMEDCT_US:9826008 Pink eye|Conjunctivitis, recurrent Inflammation of the conjunctiva. HP:0001838 Rocker bottom foot biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001838 MEDDRA:10066242|UMLS:C0240912|MSH:C536345|SNOMEDCT_US:205082007|MSH:D005413|SNOMEDCT_US:205359003 Rocker bottom feet|Rockerbottom feet|Rocker bottom foot|Congenital vertical talus|Rocker-bottom feet The presence of both a prominent heel and a convex contour of the sole. HP:0000508 Ptosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000508 SNOMEDCT_US:11934000|UMLS:C0005745|MSH:D001763 Blepharoptosis|Drooping upper eyelid|Eyelid ptosis|Eye drop 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). HP:0001831 Short toe biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001831 UMLS:C1836195 Hypoplastic toes|Stubby toes|Short toe|Hypoplasia of the toe|Short toes|Brachydactyly of the foot|Short foot phalanges A toe that appears disproportionately short compared to the foot. HP:0001832 Abnormal metatarsal morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001832 UMLS:C4025745 Abnormality of the long bone of foot 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). HP:0000501 Glaucoma biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000501 SNOMEDCT_US:23986001|UMLS:C0017601|MSH:D005901 Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. HP:0001830 Postaxial foot polydactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001830 UMLS:C2112129|UMLS:C4020865 Fibular polydactyly|Posterior polydactyly of foot|Polydactyly affecting the 5th toe|Postaxial polydactyly of foot|Extra toe attached near the little toe|Postaxial polydactyly of feet 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. HP:0012540 Axillary epidermoid cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012540 UMLS:C4022859 Armpit cyst An epidermoid cyst in the armpit. HP:0012541 Cephalohematoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012541 SNOMEDCT_US:206200000|UMLS:C0007722|SNOMEDCT_US:83095000 Cephalohaematoma Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum. HP:0011210 EEG with occipital slowing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011210 UMLS:C4023465 Slowing in occipital areas of the scalp EEG. HP:0012542 Onychauxis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012542 SNOMEDCT_US:30654002|UMLS:C0263536 Thickened nails without deformity. HP:0011211 EEG with photoparoxysmal response grade I biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011211 UMLS:C4023464 Occurrence of epileptiform discharges in occipital regions during photic stimulation. HP:0011212 EEG with photoparoxysmal response grade II biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011212 UMLS:C4023463 Occurence of epileptiform discharges in occipital and central regions during photic stimulation. HP:0012543 Hemosiderinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012543 UMLS:C2721579 The presence of hemosiderin in the urine. HP:0012544 Elevated aldolase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012544 UMLS:C4022858 An increased concentration of fructose 1,6-bisphosphate aldolase in the serum. HP:0011213 EEG with photoparoxysmal response grade III biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011213 UMLS:C4023462 Occurrence of epileptiform discharges in occipital, central, temporal and parietal regions during photic stimulation. HP:0011214 EEG with photoparoxysmal response grade IV biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011214 UMLS:C4023461 Occurrence of generalized epileptiform discharges during photic stimulation. HP:0012545 Reduced aldolase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012545 UMLS:C4022857 An decreased concentration of fructose 1,6-bisphosphate aldolase in the serum. HP:0011215 Hemihypsarrhythmia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011215 UMLS:C4023460 Hypsarrhythmia occurring in one hemisphere. HP:0012546 Skewed maternal X inactivation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012546 UMLS:C4022856 A deviation from equal (50%) inactivation of each parental X chromosome in maternal cells. HP:0000558 Rieger anomaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000558 SNOMEDCT_US:47507006|UMLS:C0265341|MSH:C535679 A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities. HP:0000557 Buphthalmos biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000557 UMLS:C4551507|MSH:D006871 Enlarged eyeball Diffusely large eye (with megalocornea) associated with glaucoma. HP:0001888 Lymphopenia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001888 UMLS:C0024312|SNOMEDCT_US:48813009|MSH:D008231 Absolute lymphocyte count decrease|Decreased blood lymphocyte number|Low lymphocyte number|Lymphocytopenia A reduced number of lymphocytes in the blood. HP:0000559 Corneal scarring biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000559 SNOMEDCT_US:95726001|MSH:D065306|UMLS:C0349702 HP:0001889 Megaloblastic anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001889 SNOMEDCT_US:53165003|UMLS:C0002888|MSH:D000749 Megaloblastic anaemia Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts). HP:0000550 Undetectable electroretinogram biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000550 UMLS:C1855685 Absent electroretinogram|Extinguished electroretinogram|Undetectable ERG|No light-evoked response on electroretinogram|Abolished electroretinogram|Extinction of electroretinogram Lack of any response to stimulation upon electroretinography. HP:0001882 Leukopenia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001882 MSH:D007970|SNOMEDCT_US:84828003|UMLS:C0023530 Decreased blood leukocyte number|Low white blood cell count An abnormal decreased number of leukocytes in the blood. HP:0001883 Talipes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001883 SNOMEDCT_US:398309008|MSH:D000070558|UMLS:C1301937|UMLS:C3552713 Talipes foot deformities A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus. HP:0001880 Eosinophilia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001880 UMLS:C0014457|MSH:D004802 High blood eosinophil count Increased count of eosinophils in the blood. HP:0000552 Tritanomaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000552 UMLS:C1970167|UMLS:C0155017|MSH:D003117|SNOMEDCT_US:85049009|SNOMEDCT_US:51886007 Dyschromatopsia, blue-yellow|Blue-yellow dyschromatopsia|Blue yellow color blindness|Blue/yellow color vision defect Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment. HP:0001881 Abnormal leukocyte morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001881 UMLS:C0152009|SNOMEDCT_US:24827003|SNOMEDCT_US:134199001 Abnormal leukocyte function|Abnormality of leukocytes An abnormality of leukocytes. HP:0000551 Color vision defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000551 MSH:D003117|SNOMEDCT_US:23289000|UMLS:C3552853|SNOMEDCT_US:367469000|UMLS:C0234629|UMLS:C0009398 Colour vision defect|Abnormality of colour vision|Color vision defect, severe|Abnormal color vision|Color vision defects|Abnormality of color vision|Loss in color vision An anomaly in the ability to discriminate between or recognize colors. HP:0001886 Foot osteomyelitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001886 UMLS:C4025737 Foot bone infection An infection of bone of the foot. HP:0000554 Uveitis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000554 UMLS:C0042164|MSH:D014605|SNOMEDCT_US:128473001 Inflammation of one or all portions of the uveal tract. HP:0000553 Abnormal uvea morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000553 UMLS:C4025842 Abnormality of the uvea An abnormality of the uvea, the vascular layer of the eyeball. HP:0000556 Retinal dystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000556 SNOMEDCT_US:314407005|UMLS:C0854723|MSH:D058499 Breakdown of light-sensitive cells in back of eye 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. HP:0001884 Talipes calcaneovalgus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001884 MSH:D005413|UMLS:C0152237|SNOMEDCT_US:205083002|SNOMEDCT_US:31668003 Pes calcaneovarus 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. HP:0000555 Leukocoria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000555 SNOMEDCT_US:1361009|UMLS:C0152458 Leukokoria|White pupillary reflex An abnormal white reflection from the pupil rather than the usual black reflection. HP:0001885 Short 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001885 UMLS:C4021769 Short second toe Underdevelopment (hypoplasia) of the second toe. HP:0012547 Abnormal involuntary eye movements biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012547 UMLS:C4022855 Anomalous movements of the eyes that occur without the subject wanting them to happen. HP:0011217 Abnormal shape of the occiput biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011217 UMLS:C4023459 Abnormal shape of the back of the head|Abnormal shape of the back of the skull|Abnormal shape of posterior head|Abnormal shape of posterior cranium|Abnormal shape of posterior skull An abnormal shape of occiput. HP:0012548 Fatty replacement of skeletal muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012548 UMLS:C4021082 Skeletal muscle fatty infiltration Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers HP:0012549 Conjunctival lipoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012549 UMLS:C4022854|NCIT:C3192 A lipoma (a benign tumor composed of adipose tissue) located in the conjunctiva. HP:0011218 Abnormal shape of the frontal region biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011218 UMLS:C4023458 Abnormal shape of the forehead|Dysmorphic forehead|Dysmorphic frontal region|Abnormal morphology of the frontal region An abnormal shape of the frontal part of the head. HP:0011219 Short face biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011219 UMLS:C4023457 Decreased vertical dimension of face|Decreased length of face|Vertical Facial Deficiency|Vertical shortening of face|Short facies|Vertical insufficiency of face|Short face|Vertical hypoplasia of face|Vertical deficiency of face|Decreased height of face|Vertical facial insufficiency Facial height (length) is more than two standard deviations below the mean (objective); or an apparent decrease in the height (length) of the face (subjective). HP:0012530 Abnormal number of dense granules biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012530 UMLS:C4022861 A deviation from the normal count of dense granules per thrombocyte. HP:0011200 EEG with generalized polymorphic epileptiform discharges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011200 UMLS:C4023474 EEG with generalised polymorphic epileptiform discharges Generalized epileptiform discharges of different shapes and frequencies. HP:0012531 Pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012531 SNOMEDCT_US:22253000|UMLS:C0030193|MSH:D010146 Pain An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. HP:0012532 Chronic pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012532 MSH:D059350|UMLS:C0150055|SNOMEDCT_US:82423001 Chronic pain|Long-lasting pain Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months. HP:0011201 EEG with changes in voltage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011201 UMLS:C4023473 EEG with abnormal amplitude. HP:0012533 Allodynia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012533 UMLS:C0458247|MSH:D006930|SNOMEDCT_US:247404004 Pain due to a stimulus that does not normally provoke pain. HP:0011202 EEG with diffuse acceleration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011202 UMLS:C4023472 EEG frequency is abnormally increased. HP:0011203 EEG with abnormally slow frequencies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011203 UMLS:C4023471 EEG with abnormally slow frequencies. HP:0012534 Dysesthesia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012534 SNOMEDCT_US:279079003|UMLS:C0392699|MSH:D010292 Dysesthesias|Dysaesthesia Abnormal sensations with no apparent physical cause that are painful or unpleasant. HP:0012535 Abnormal synaptic transmission biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012535 UMLS:C4021083 Abnormality of neurotransmitter metabolism An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process. HP:0011204 EEG with continuous slow activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011204 UMLS:C4023470 EEG showing diffuse slowing without interruption. HP:0000568 Microphthalmia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000568 Fyler:4877|SNOMEDCT_US:61142002|UMLS:C0026010|MSH:D008850|UMLS:C4280625|SNOMEDCT_US:204108000|UMLS:C4280808 Microphthalmos|Decreased size of globe of eye|Abnormally small globe of eye|Nanophthalmos|Decreased size of eyeball|Abnormally small eyeball A developmental anomaly characterized by abnormal smallness of one or both eyes. HP:0001899 Increased hematocrit biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001899 UMLS:C0239935 Increased Hct An elevation above the normal ratio of the volume of red blood cells to the total volume of blood. HP:0000561 Absent eyelashes biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000561 UMLS:C4280627|UMLS:C4280626|UMLS:C1843005 Failure of development of eyelashes|Absent eyelashes|Agenesis of eyelashes|Aplasia of eyelashes|Atrichia of eyelashes Lack of eyelashes. HP:0001894 Thrombocytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001894 MSH:D013922|SNOMEDCT_US:6631009|UMLS:C0836924|UMLS:C0857460|SNOMEDCT_US:415115007 Increased number of platelets in blood|Thrombocythemia|Increased platelet count|Thrombocythaemia Increased numbers of platelets in the peripheral blood. HP:0001891 Iron deficiency anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001891 UMLS:C0162316|MSH:D018798|SNOMEDCT_US:87522002 Iron-deficiency anemia|Iron deficiency anaemia|Ferropenic HP:0000563 Keratoconus biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000563 MSH:D007640|UMLS:C0022578|SNOMEDCT_US:65636009 Conical cornea|Bulging cornea A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex. HP:0001892 Abnormal bleeding biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001892 UMLS:C1458140|SNOMEDCT_US:64779008|SNOMEDCT_US:248250000 Hemorrhagic diathesis|Bleeding diathesis|Bleeding tendency An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. HP:0000565 Esotropia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000565 SNOMEDCT_US:16596007|UMLS:C0014877|MSH:D004948 Inward turning cross eyed A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more. HP:0001897 Normocytic anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001897 UMLS:C0085577|SNOMEDCT_US:300980002 Normocytic anaemia A kind of anemia in which the volume of the red blood cells is normal. HP:0000564 Lacrimal duct atresia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000564 SNOMEDCT_US:278530008|UMLS:C0344511 Imperforate nasolacrimal ducts|Nasolacrimal duct atresia|Unopened tear duct A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct. HP:0001898 Increased red blood cell mass biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001898 UMLS:C1853288 Increased RBC mass The presence of an increased mass of red blood cells in the circulation. HP:0001895 Normochromic anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001895 UMLS:C0235983 Normochromic anaemia HP:0000567 Chorioretinal coloboma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000567 SNOMEDCT_US:39302008|UMLS:C0240896 Birth defect that causes a hole in the innermost layer at the back of the eye|Choroidal coloboma|Choroid coloboma|Choroidoretinal coloboma|Coloboma of choroid Absence of a region of the retina, retinal pigment epithelium, and choroid. HP:0001896 Reticulocytopenia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001896 SNOMEDCT_US:124961001|UMLS:C0858867 A reduced number of reticulocytes in the peripheral blood. HP:0012536 Maternal anticardiolipin antibody positive biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012536 UMLS:C4022860 The presence of circulating autoantibodies to anticardiolipin in the mother. HP:0011205 EEG with intermittent slow activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011205 UMLS:C4023469 Non-continuous diffuse slowing of electroencephalographic patterns. HP:0011206 EEG with generalized slow activity grade 1 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011206 UMLS:C4023468 EEG with generalised slow activity grade 1 Slowing at frequencies between 7.5 and 8.5 Hz. HP:0012537 Food intolerance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012537 UMLS:C0149696|SNOMEDCT_US:235719002 Food intolerance|Non-allergic food hypersensitivity 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. HP:0012538 Gluten intolerance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012538 MSH:D002446|SNOMEDCT_US:441831003|UMLS:C0007570|UMLS:C0850024|SNOMEDCT_US:396331005 Gluten sensitivity|Gluten intolerance A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease. HP:0011207 EEG with generalized slow activity grade 2 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011207 UMLS:C4023467 EEG with generalised slow activity grade 2 Generalized slowing of EEG activity at frequencies between 4-7 Hz. HP:0011208 EEG with generalized slow activity grade 3 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011208 UMLS:C4023466 EEG with generalised slow activity grade 3 Generalized slowing of EEG activity at frequencies between 0.5-3 Hz. HP:0012539 Non-Hodgkin lymphoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012539 SNOMEDCT_US:118601006|MSH:D008228|SNOMEDCT_US:128929007|SNOMEDCT_US:1929004|UMLS:C0024305|SNOMEDCT_US:188675007 A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells. HP:0011209 EEG with generalized slow activity grade 4 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011209 UMLS:C4021198 EEG with generalised slow activity grade 4|Flat line EEG EEG without electrical activity. HP:0001890 Autoimmune hemolytic anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001890 SNOMEDCT_US:413603009|MSH:D000744|UMLS:C0002880 Autoimmune haemolytic anaemia|Hemolytic anemia, autoimmune|Autoimmune hemolytic anaemia An autoimmune form of hemolytic anemia. HP:0012520 Perivascular spaces biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012520 UMLS:C4020719|UMLS:C1853618 Dilated cerebral perivascular spaces|Dilatation of Virchow-Robin spaces|Dilated Virchow-Robin spaces Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery. HP:0012521 Optic nerve aplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012521 UMLS:C4021084 Absent optic nerve|Aplastic optic nerve Congenital absence of the optic nerve. HP:0012522 Spider hemangioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012522 UMLS:C4022867 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. HP:0012523 Oral aversion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012523 UMLS:C3665983 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). HP:0012524 Abnormal platelet shape biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012524 UMLS:C4022866 A deviation from the normal discoid platelet shape. HP:0001868 Autoamputation of foot biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001868 UMLS:C4025740 Spontaneous detachment of a foot from the body. HP:0001869 Deep plantar creases biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001869 UMLS:C1857953 Deep wrinkles in soles of feet The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot. HP:0000535 Sparse and thin eyebrow biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000535 UMLS:C1832446 Thin, sparse eyebrows|Sparse and thin eyebrow Decreased density/number and/or decreased diameter of eyebrow hairs. HP:0000538 Pseudopapilledema biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000538 SNOMEDCT_US:57138009|MSH:C562401|UMLS:C0155300 Apparent optic disc swelling in the absence of increased intracranial pressure. HP:0000537 Epicanthus inversus biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000537 UMLS:C1303003|SNOMEDCT_US:400956000 A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus. HP:0000539 Abnormality of refraction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000539 UMLS:C4025843 An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina. HP:0000532 Abnormal chorioretinal morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000532 UMLS:C4025844 Chorioretinal abnormality An abnormality of the choroid and retina. HP:0001864 Clinodactyly of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001864 UMLS:C4280586|UMLS:C4025741 Curvature of the little toe|Curvature of the pinkie toe|Curvature of the pinky toe Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe). HP:0000531 Corneal crystals biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000531 UMLS:C1096610 Corneal deposits HP:0000534 Abnormal eyebrow morphology biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000534 UMLS:C4011556 Abnormality of the eyebrow An abnormality of the eyebrow. HP:0001862 obsolete Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001862 HP:0000533 Chorioretinal atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000533 SNOMEDCT_US:95686007|UMLS:C4048273 Chorioretinal thinning Atrophy of the choroid and retinal layers of the fundus. HP:0001863 Toe clinodactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001863 UMLS:C4280587|UMLS:C4021770 Toe curvature|Clinodactyly of feet Bending or curvature of a toe in the tibial direction (i.e., towards the big toe). HP:0012525 Abnormal alpha granule distribution biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012525 UMLS:C4022865 An anomalous location and arrangement of platelet alpha granules. HP:0012526 Absence of alpha granules biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012526 UMLS:C4022864 Grey platelets|Gray platelets A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears. HP:0012527 Abnormal alpha granule content biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012527 UMLS:C4022863 A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor. HP:0012528 Abnormal number of alpha granules biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012528 UMLS:C4022862 A deviation from the normal count of alpha granules per thrombocyte. HP:0012529 Abnormal dense granule content biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012529 UMLS:C4021839 A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated. HP:0012510 Extra-axial cerebrospinal fluid accumulation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012510 UMLS:C4022871 Extra-axial CSF accumulation An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space. HP:0012511 Temporal optic disc pallor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012511 SNOMEDCT_US:247220006|UMLS:C0344299 A pale yellow discoloration of the temporal (lateral) portion of the optic disc. HP:0012512 Diffuse optic disc pallor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012512 UMLS:C4022870 A pale yellow discoloration of the entire optic disc. HP:0012513 Upper limb pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012513 SNOMEDCT_US:102556003|UMLS:C0239377 Upper limb pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the arm. HP:0001879 Abnormal eosinophil morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001879 UMLS:C4025738 Abnormality of eosinophils An abnormal count or structure of eosinophils. HP:0000547 obsolete Tapetoretinal degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000547 Retinotapetal degeneration HP:0000546 Retinal degeneration biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000546 SNOMEDCT_US:95695004|MSH:D012162|UMLS:C0035304 Retina degeneration A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells. HP:0001877 Abnormal erythrocyte morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001877 UMLS:C4020862|UMLS:C0391870|SNOMEDCT_US:12222001 Abnormality of erythroid lineage cell|Abnormality of red blood cells|Abnormality of erythrocytes Any structural abnormality of erythrocytes (red-blood cells). HP:0000549 Abnormal conjugate eye movement biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000549 UMLS:C1845274 Disconjugate eye movements Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object. HP:0001878 Hemolytic anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001878 UMLS:C0002878|MSH:D000743|SNOMEDCT_US:61261009 Hemolytic anaemia|Haemolytic anaemia|Increased hemolysis A type of anemia caused by premature destruction of red blood cells (hemolysis). HP:0000548 Cone/cone-rod dystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000548 MSH:D012174 Cone rod dystrophy|Cone-rod retinal dystrophy HP:0001871 Abnormality of blood and blood-forming tissues biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001871 SNOMEDCT_US:34093004|UMLS:C0018939|MSH:D006402|UMLS:C4020864|UMLS:C0850715|SNOMEDCT_US:191124002 Abnormality of the hematopoietic system|Hematologic disease|Abnormality of blood and blood-forming tissues|Abnormality of the haematopoietic system|Hematological abnormality An abnormality of the hematopoietic system. HP:0001872 Abnormal thrombocyte morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001872 UMLS:C0151854|UMLS:C0040015|SNOMEDCT_US:127566005|UMLS:C4020863|SNOMEDCT_US:32942005|MSH:D013915 Platelet abnormalities|Blood platelet disease|Thrombasthenia An abnormality of platelets. HP:0000541 Retinal detachment biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000541 UMLS:C0035305|MSH:D012163|SNOMEDCT_US:42059000 Detached retina|Retinal detachment Separation of the inner layers of the retina (neural retina) from the pigment epithelium. HP:0000540 Hypermetropia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000540 UMLS:C0020490|SNOMEDCT_US:38101003|MSH:D006956 Farsightedness|Hyperopia|Long-sightedness An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry. HP:0001870 Acroosteolysis of distal phalanges (feet) biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001870 UMLS:C4025739 Acroosteolysis of distal phalanges of feet HP:0001875 Neutropenia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001875 SNOMEDCT_US:165517008|UMLS:C0853697 Low blood neutrophil count|Neutropoenia|Low neutrophil count|Peripheral neutropenia An abnormally low number of neutrophils in the peripheral blood. HP:0000543 Optic disc pallor biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000543 SNOMEDCT_US:302200001|UMLS:C0554970 Pale optic discs|Optic disk pallor|Disc pallor|Pale optic disk|Pale optic disc A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. HP:0001876 Pancytopenia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001876 UMLS:C0030312|MSH:D010198|SNOMEDCT_US:127034005 Low blood cell count An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). HP:0000542 Impaired ocular adduction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000542 UMLS:C1846463 Reduced ability to move the eye in the direction of the nose. HP:0000545 Myopia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000545 UMLS:C0027092|SNOMEDCT_US:57190000|MSH:D009216 Nearsightedness|Close sighted|Near sighted|Near sightedness An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. HP:0001873 Thrombocytopenia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001873 MSH:D013921|UMLS:C0040034|UMLS:C0392386|SNOMEDCT_US:302215000|SNOMEDCT_US:415116008 Low platelet count A reduction in the number of circulating thrombocytes. HP:0001874 Abnormality of neutrophils biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001874 SNOMEDCT_US:250274006|UMLS:C0427515 Abnormality of neutrophils|Abnormality of neutrophil|Abnormality of polymorphonuclear neutrophils A neutrophil abnormality. HP:0000544 External ophthalmoplegia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000544 MSH:D017246|SNOMEDCT_US:19373007|UMLS:C0162292|UMLS:C0162674|MSH:D009886|SNOMEDCT_US:46252003 Paralysis or weakness of muscles within or surrounding outer part of eye|Chronic progressive external ophthalmoplegia|Progressive paralysis or weakness of muscles of eye motility|Ophthalmoplegia externa|CPEO|Progressive paralysis or weakness of muscles of eye movement Paralysis of the external ocular muscles. HP:0012514 Lower limb pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012514 UMLS:C0023222|SNOMEDCT_US:10601006 Lower limb pain|Leg pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg. HP:0012515 Hip flexor weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012515 UMLS:C3279725 Reduced ability to flex the femur, that is, to pull the knee upward. HP:0012516 Tetralogy of Fallot with pulmonary atresia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012516 SNOMEDCT_US:253513005|UMLS:C0344882 An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries. HP:0012517 Reduced catalase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012517 UMLS:C4022869 An abnormally decreased amount of catalase level. HP:0012518 Abnormal circle of Willis morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012518 UMLS:C4022868 Abnormality of the cerebral arterial circle An anomaly of the circle of Willis, also known as the cerebral arterial circle. HP:0012519 Hypoplastic posterior communicating artery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012519 UMLS:C4020720 Hypoplastic posterior communicating arteries Underdeveloped posterior communicating artery. HP:0001808 Fragile nails biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001808 UMLS:C1856963 Brittle nails Nails that easily break. HP:0001809 Split nail biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001809 SNOMEDCT_US:85136002|UMLS:C0263530 Longitudinal splitting of nail A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature. HP:0001802 Absent toenail biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001802 UMLS:C1844555 Absent toenails (anonychia)|Absent toenails|Absent toenail|Anonychia of toenails Congenital absence of the toenail. HP:0001803 Nail pits biolink:PhenotypicFeature hp secondary_consequence http://purl.obolibrary.org/obo/HP_0001803 UMLS:C0150993|SNOMEDCT_US:89704006|MEDDRA:10028702 Nail pits|Pitted nails|Nail pitting Small (typically about 1 mm or less in size) depressions on the dorsal nail surface. HP:0001800 Hypoplastic toenails biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001800 UMLS:C1837279 Underdeveloped toenails Underdevelopment of the toenail. HP:0001806 Onycholysis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001806 MEDDRA:10030337|SNOMEDCT_US:75789001|UMLS:C0085661|MSH:D054039 Detachment of nail|Oncholysis Detachment of the nail from the nail bed. HP:0001807 Ridged nail biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001807 UMLS:C0423820|SNOMEDCT_US:271768001 Ridged nails|Longitudinal ridging|Grooved nails|Nail ridging Longitudinal, linear prominences in the nail plate. HP:0001804 Hypoplastic fingernail biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001804 UMLS:C1856786 Small fingernail|Underdeveloped fingernail Underdevelopment of a fingernail. HP:0001805 Onychogryposis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001805 UMLS:C0263537|SNOMEDCT_US:52897009 Thickened nails|Thick nail|Dystrophic thickened nails Nail that appears thick when viewed on end. HP:0001814 Deep-set nails biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001814 UMLS:C3277753 Deep-set nails Deeply placed nails. HP:0001812 Hyperconvex fingernails biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001812 UMLS:C1844825 Tubular fingernails When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity. HP:0001817 Absent fingernail biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001817 UMLS:C1844554 Absent fingernail|Anonychia of fingernails|Aplasia of the fingernail Absence of a fingernail. HP:0001818 Paronychia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001818 MSH:D010304|SNOMEDCT_US:71906005|MEDDRA:10034016|UMLS:C0030578 The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). HP:0001816 Thin nail biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001816 SNOMEDCT_US:63829008|UMLS:C0423823 Thin nails|Thin nail Nail that appears thin when viewed on end. HP:0001810 Dystrophic toenail biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001810 UMLS:C1833225 Dystrophic toenails|Poor toenail formation|Dystrophic toenail changes Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate. HP:0011197 EEG with focal spike waves biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011197 UMLS:C4023477 EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave. HP:0011198 EEG with generalized epileptiform discharges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011198 UMLS:C4023476 EEG with generalised epileptiform discharges EEG discharges recorded on the entire scalp typically seen in persons with epilepsy. HP:0011199 EEG with generalized sharp slow waves biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011199 UMLS:C4023475 EEG with generalised sharp slow waves EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. HP:0011190 Uni- and bilateral multifocal epileptiform discharges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011190 UMLS:C4023484 Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere. HP:0011191 Unilateral multifocal epileptiform discharges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011191 UMLS:C4023483 Epileptiform discharges being identified at multiple locations in one hemisphere. HP:0011192 Polymorphic focal epileptiform discharges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011192 UMLS:C4023482 Focal epileptiform discharges of different shapes and frequencies. HP:0011193 EEG with focal spikes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011193 UMLS:C4023481 EEG with focal sharp transient waves of a duration less than 80 msec. HP:0011194 EEG with series of focal spikes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011194 UMLS:C4023480 Focal spikes occurring for several seconds. HP:0011195 EEG with focal sharp slow waves biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011195 UMLS:C4023479 EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. HP:0011196 EEG with focal sharp waves biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011196 UMLS:C4023478 EEG with focal sharp transient waves of a duration between 80 and 200 msec. HP:0011186 Focal epileptiform discharges with limited propagation to contralateral hemisphere biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011186 UMLS:C4023488 Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization. HP:0011187 Focal EEG discharges with propagation to ipsilateral hemisphere biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011187 UMLS:C4023487 Focal epileptiform discharges with spreading to the hemisphere on the same side of the brain. HP:0011188 Focal EEG discharges with secondary generalization biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011188 UMLS:C4023486 Focal EEG discharges with secondary generalisation Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp. HP:0011189 Bilateral multifocal epileptiform discharges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011189 UMLS:C4023485 Epileptiform discharges being identified at multiple locations in both hemispheres. HP:0011180 Partial beta-EEG biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011180 UMLS:C4023492 EEG dominated by diffuse beta waves (>13 Hz) with occipitally localized alpha waves (8-13 Hz). HP:0011181 Low voltage EEG biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011181 UMLS:C1851759 EEG with an amplitude less than 30 microvolts without observable occipital alpha rhythm (8-13 Hz). HP:0011182 Interictal epileptiform activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011182 UMLS:C4023491 Epileptiform EEG discharges 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. HP:0011183 EEG with hyperventilation-induced focal epileptiform discharges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011183 UMLS:C4023490 Focal epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). HP:0011184 EEG with hyperventilation-induced generalized epileptiform discharges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011184 UMLS:C4023489 EEG with hyperventilation-induced generalised epileptiform discharges Generalized epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). HP:0011185 EEG with focal epileptiform discharges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011185 UMLS:C4021199 Focal EEG Abnormality EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). HP:0012462 Chin myoclonus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012462 UMLS:C1860972|MSH:C537682 Geniospasm|Chin spasms Involuntary and irregular twitches of the chin. HP:0011131 Perianal rash biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011131 UMLS:C0240705 The presence of a rash (change of color and texture) of the perianal skin. HP:0012463 Elevated transferrin saturation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012463 UMLS:C4022892 An above normal level of saturation of serum transferrin with iron. HP:0011132 Chronic furunculosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011132 UMLS:C4023521 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. HP:0012464 Decreased transferrin saturation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012464 UMLS:C0919785 A below normal level of saturation of serum transferrin with iron. HP:0011133 Increased sensitivity to ionizing radiation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011133 UMLS:C4021850 Increased sensitivity to ionising radiation An abnormally increased sensitivity to the effects of ionizing radiation. HP:0011134 Low-grade fever biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011134 SNOMEDCT_US:304213008|UMLS:C0239574 Low-grade fever|Mild fever Mild fever that does not exceed 38.5 degree centrigrade. HP:0012465 Elevated hepatic iron concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012465 UMLS:C4022891 Increased iron concentration in liver|Increased liver iron level An increased level of iron in liver tissues. HP:0011135 Aplasia/Hypoplasia of the sweat glands biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011135 UMLS:C4023520 Absent/small sweat glands|Absent/underdeveloped sweat glands Absence or developmental hypoplasia of the sweat glands. HP:0012466 Chronic respiratory acidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012466 SNOMEDCT_US:8764008|UMLS:C0268048 Longstanding impairment in ventilation such that the partial pressure of carbon dioxide (PaCO2) is elevated above the upper limit of the reference range (more than 45 mm Hg), with a normal or near-normal pH secondary to renal compensation and an elevated serum bicarbonate levels (more than30 mEq/L). HP:0012467 Acute respiratory acidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012467 SNOMEDCT_US:70644008|UMLS:C0268047 Sudden onset of impairment in ventilation such that the removal of carbon dioxide by the respiratory system is less than the production of carbon dioxide in the tissues, leading to an elevation of the partial pressure of carbon dioxide (PaCO2) above the normal limits (more than 45 mm Hg) with an accompanying acidemia (pH less than 7.35). HP:0011136 Aplasia of the sweat glands biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011136 UMLS:C2677485 Absent sweat glands|Lack of sweat glands Absence of the sweat glands. HP:0011137 Non-pruritic urticaria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011137 UMLS:C4023519 Non-itchy hives Pale reddish slightly elevated papules and plaques of 0.5-3 cm in diameter and not accompanied by pruritus. HP:0012468 Chronic acidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012468 UMLS:C1735903 Longstanding abnormal acid accumulation or depletion of base. HP:0012469 Infantile spasms biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012469 UMLS:C3887898 Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy). HP:0011138 Abnormality of skin adnexa morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011138 UMLS:C4023518 Abnormal skin appendage An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. HP:0012460 Dysmorphic inferior cerebellar vermis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012460 UMLS:C4022893 A structural anomaly of the inferior portion of the vermis of cerebellum. HP:0011130 Abnormal renal calyx morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011130 UMLS:C4023522 Abnormality of renal calyx morphology Any abnormality of the morphology of the major calices or minor calices of the kidney. HP:0012461 Bacteriuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012461 MSH:D001437|UMLS:C0004659|SNOMEDCT_US:61373006 Bacteria in urine|High urine bacteria The presence of bacteria in the urine. HP:0000473 Torticollis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000473 UMLS:C0152116|UMLS:C0949445|SNOMEDCT_US:270476009|SNOMEDCT_US:74333002|SNOMEDCT_US:70070008|MSH:D014103|UMLS:C0040485 Cervical dystonia|Wry neck|Spasmodic torticollis|Loxia Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head. HP:0000472 Long neck biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000472 UMLS:C1839816 Long neck|Increased cervical length|Elongated neck|Increased length of neck|Cervical elongation Increased inferior-superior length of the neck. HP:0000475 Broad neck biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000475 UMLS:C1853638 Thick neck|Increased width of neck|Broad neck|Wide neck Increased side-to-side width of the neck. HP:0000474 Thickened nuchal skin fold biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000474 UMLS:C1836940 Thickened skin over the neck|Thickened nuchal skin|Thickened skin folds of neck|Increased nuchal fold thickness|Excess nuchal skin A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. A measurement 6 mm or more is considered significant between 18 and 24 weeks and a measurement of 5 mm or more is considered significant at 16 to 18 weeks (PMID:16100637). HP:0000476 Cystic hygroma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000476 MSH:D018191|SNOMEDCT_US:423984004|SNOMEDCT_US:40225001|NCIT:C8965|SNOMEDCT_US:399882002|UMLS:C0206620 Cystic hygroma of the neck A cystic lymphatic lesion of the neck. HP:0000479 Abnormal retinal morphology biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000479 MSH:D012164|UMLS:C0035309|SNOMEDCT_US:29555009|UMLS:C0035300 Retinal disease|Abnormality of the retina|Retina issue|Abnormal retina|Anomaly of the retina A structural abnormality of the retina. HP:0000478 Abnormality of the eye biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000478 SNOMEDCT_US:371409005|MSH:D005124|MSH:D005128|SNOMEDCT_US:19416009|SNOMEDCT_US:371405004|UMLS:C0015393|UMLS:C0015397 Abnormal eye|Eye disease|Abnormality of the eye Any abnormality of the eye, including location, spacing, and intraocular abnormalities. HP:0011139 Gastric duplication biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011139 UMLS:C4021201 Gastric duplication cyst Gastric duplication is a usually cystic malformation of gastrointestinal tract, usually attached to the greater curvature of the stomach and has no communication with the stomach. HP:0000471 Gastrointestinal angiodysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000471 UMLS:C0854242 GI angiodysplasia Dysplasia affecting the vasculature of the gastrointestinal tract. HP:0000470 Short neck biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000470 SNOMEDCT_US:95427009|UMLS:C0521525 Decreased length of neck|Cervical shortening|Decreased cervical height|Decreased cervical length|Short neck Diminished length of the neck. HP:0011120 Concave nasal ridge biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0011120 UMLS:C0264169|SNOMEDCT_US:710234009 Saddle nose|Saddle shaped nasal dorsum|Concave dorsum of nose|Saddle nose deformity|Ski jump nose|Concave nasal dorsum|Boxer's nose deformity|Boxer's nasal deformity Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip. HP:0012451 Acute constipation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012451 UMLS:C0401148|SNOMEDCT_US:197119006 Constipation of sudden onset and lasting for less than three months. HP:0011121 Abnormality of skin morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011121 UMLS:C4023528|Fyler:4133 Abnormal skin morphology|Abnormal skin structure Any morphological abnormality of the skin. HP:0012452 Restless legs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012452 SNOMEDCT_US:32914008|MSH:D012148|UMLS:C0035258 Willis-Ekbom disease|Restless legs syndrome|Wittmaack-Ekbom syndrome A feeling of uneasiness and restlessness in the legs after going to bed (sometimes causing insomnia). HP:0012453 Bilateral wrist flexion contracture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012453 UMLS:C4020723|UMLS:C4022899 Bilateral wrist contracture A chronic loss of wrist joint motion on the right and left sides. HP:0011122 Abnormality of skin physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011122 UMLS:C4023527 Abnormality of skin physiology Any abnormality of the physiological function of the skin. HP:0011123 Inflammatory abnormality of the skin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011123 UMLS:C3875321|MP:0004947|SNOMEDCT_US:703938007|UMLS:C0011603|MSH:D003872 Abnormal tendency to infections of the skin|Skin inflammation|Dermatitis|Inflammatory skin disease|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. HP:0012454 Unilateral wrist flexion contracture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012454 UMLS:C4020722|UMLS:C4022898 Unilateral wrist contracture A chronic loss of wrist joint motion on one side only. HP:0011124 Abnormality of epidermal morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011124 UMLS:C4023526 An abnormality of the morphology of the epidermis. HP:0012455 obsolete Large artery calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012455 HP:0011125 Abnormality of dermal melanosomes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011125 UMLS:C4023525 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). HP:0012456 Medial arterial calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012456 UMLS:C4022896 Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries. HP:0012457 Medial calcification of medium-sized arteries biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012457 UMLS:C4022895 Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries. HP:0011126 Nephroptosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011126 UMLS:C1384594 Renal ptosis|Floating kidney A significant descent of the kidney as the patient moves from the supine to the erect position. HP:0012458 Medial calcification of small arteries biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012458 UMLS:C4022894 Calcification, that is, pathological deposition of calcium salts in the tunica media of small arteries. HP:0011127 Perioral eczema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011127 UMLS:C1396126 Eczema around the mouth A type of eczema that occurs in the lips and perioral area. HP:0012450 Chronic constipation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012450 SNOMEDCT_US:236069009|UMLS:C0401149 Infrequent bowel movements|Chronic constipation Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation. HP:0000484 Hyperopic astigmatism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000484 UMLS:C1847524|SNOMEDCT_US:449734001 A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error. HP:0000483 Astigmatism biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000483 MSH:D001251|SNOMEDCT_US:82649003|UMLS:C0004106 Astigmatism|Abnormal curving of the cornea or lens of the eye A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea. HP:0000486 Strabismus biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000486 UMLS:C0038379|SNOMEDCT_US:22066006|MSH:D013285|SNOMEDCT_US:128602000 Squint eyes|Squint|Cross-eyed 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. HP:0000485 Megalocornea biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000485 SNOMEDCT_US:268158009|UMLS:C0344530|UMLS:C1167712|SNOMEDCT_US:204118005|MSH:C562829 Anterior megalophthalmos|Enlarged cornea|Macrocornea|Increased corneal diameter An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age. HP:0000488 Retinopathy biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000488 SNOMEDCT_US:29555009|UMLS:C0035309|MSH:D012164 Noninflammatory retina disease 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. HP:0000487 obsolete Congenital strabismus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000487 HP:0000489 obsolete Abnormality of globe location or size biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000489 HP:0012459 Hypnic headache biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012459 SNOMEDCT_US:122711000119109|UMLS:C0752150|MSH:D051270 Alarm clock headache A headache disorder that occurs exclusively at night, waking the affected individual from sleep. HP:0011128 Acute esophageal necrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011128 UMLS:C4023524 A condition characterized by necrosis of the mucosal and submucosal layers of the esophagus not related to ingestion of caustic or other injurious agents. Endoscopically, there is a dark lesion ('black esophagus') distributed in a circumferential manner in the distal one-third of the esophagus with or without exudates. There is involvement of the distal esophagus ending sharply at the gastroesophageal junction. HP:0011129 Bilateral fetal pyelectasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011129 UMLS:C4023523 Bilateral foetal pyelectasis|Bilateral fetal pyelectasia A bilateral form of fetal pyelectasis. HP:0000480 Retinal coloboma biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000480 UMLS:C3540764 Hole in the back of the eye A notch or cleft of the retina. HP:0000482 Microcornea biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000482 SNOMEDCT_US:26098002|UMLS:C1167713|UMLS:C0266544 Decreased corneal diameter|Cornea of eye less than 10mm in diameter A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood. HP:0000481 Abnormal cornea morphology biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000481 UMLS:C1855670|UMLS:C4020889 Abnormality of the cornea|Corneal abnormality|Cornela disease|Corneal abnormalities Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber. HP:0012440 Abnormal biliary tract morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012440 UMLS:C4021086 Anomaly of the biliary tract A structural abnormality of the biliary tree. HP:0011110 Recurrent tonsillitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011110 UMLS:C0040425|SNOMEDCT_US:90176007|MSH:D014069 IRecurrent inflammation of tonsils Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis. HP:0012441 Sphincter of Oddi dyskinesia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012441 MSH:D046628|UMLS:C4048750|SNOMEDCT_US:430887001|UMLS:C0878588 Sphincter of Oddi dysfunction Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum. HP:0011111 Abnormality of immune serum protein physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011111 UMLS:C4023536 An abnormality of the concentration or function of circulating immune proteins. HP:0012442 Gallbladder dyskinesia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012442 MSH:D001657|UMLS:C1449631 Reduced motility of the gallbladder with reduced emptying fraction. HP:0012443 Abnormality of brain morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012443 UMLS:C4021085 Abnormal shape of brain|Abnormality of the brain A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. HP:0011112 Abnormality of serum cytokine level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011112 MP:0010210|UMLS:C4023535 Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells. HP:0011113 Abnormality of cytokine secretion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011113 UMLS:C4023534|MP:0003009 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). HP:0012444 Brain atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012444 UMLS:C0154671|SNOMEDCT_US:278849000|SNOMEDCT_US:52522001|UMLS:C0235946|SNOMEDCT_US:418143002 Brain degeneration|Brain wasting Partial or complete wasting (loss) of brain tissue that was once present. HP:0011114 Defective production of NFKB1-dependent cytokines biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011114 UMLS:C4023533 An impairment in the production by leukocytes of NFKB1-dependent cytokines such as tumor necrosis factor-alpha and interferon-alpha. HP:0011115 Abnormality of chemokine secretion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011115 UMLS:C4023532 An abnormality in the production or cellular release of a chemokine (a class of cytokines). HP:0012446 Decreased CSF 5-methyltetrahydrofolate concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012446 MSH:C567791|UMLS:C2751584|SNOMEDCT_US:711403001|UMLS:C4022901 Reduced CSF 5-methyltetrahydrofolate concentration|Low CSF 5-methyltetrahydrofolate|Cerebral folate deficiency A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite. HP:0012447 Abnormal myelination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012447 UMLS:C1857704 Any anomaly in the process by which myelin sheaths are formed and maintained around neurons. HP:0011116 Abnormality of interferon secretion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011116 UMLS:C4023531 An abnormality in the production or cellular release of interferons (a class of cytokines). HP:0000458 Anosmia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000458 MSH:D000857|UMLS:C0003126|SNOMEDCT_US:44169009 Loss of smell|Lost smell 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. HP:0001789 Hydrops fetalis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001789 SNOMEDCT_US:276508000|UMLS:C0020305|MSH:D015160 The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. HP:0001783 Broad metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001783 UMLS:C1842231|UMLS:C1850161 Wide long bone of foot|Broad metatarsals|Widened metatarsal shaft Increased side-to-side width of a metatarsal bone. HP:0000451 Triangular nasal tip biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000451 UMLS:C1839765 Triangular nasal tip|Triangular shaped tip of nose HP:0410401 Worse in evening biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410401 Applies to a sign or symptom that is exacerbated in the evening as compared to the day. HP:0410400 Absent sebaceous glands biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410400 Absence of sebaceous glands Absence of the sebaceous gland, the holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts. HP:0000453 Choanal atresia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000453 MSH:D002754|SNOMEDCT_US:204508009|UMLS:C0008297|Fyler:4203 Blockage of the rear opening of the nasal cavity|Obstruction of the rear opening of the nasal cavity Absence or abnormal closure of the choana (the posterior nasal aperture). HP:0001782 Bulbous tips of toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001782 UMLS:C4025747 An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous. HP:0000452 Choanal stenosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000452 UMLS:C0584837|SNOMEDCT_US:306963008 Narrowing of the rear opening of the nasal cavity|Coanal stenosis Abnormal narrowing of the choana (the posterior nasal aperture). HP:0001787 Abnormal delivery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001787 UMLS:C0549629|SNOMEDCT_US:274127000 Abnormal delivery|Delivery complication An abnormality of the birth process. HP:0000455 Broad nasal tip biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000455 UMLS:C0426429|SNOMEDCT_US:249327002 Broad nasal tip|Increased breadth of nasal tip|Nasal tip, broad|Wide tip of nose|Increased width of tip of nose|Broad, upturned nose|Broad tip of nose|Increased width of nasal tip|Broad upturned nose|Nasal tip, wide|Increased breadth of tip of nose Increase in width of the nasal tip. HP:0000454 Flared nostrils biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000454 SNOMEDCT_US:21558008|SNOMEDCT_US:248568003|UMLS:C0277873 Flared nasal alae|Flared nostrils HP:0001788 Premature rupture of membranes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001788 SNOMEDCT_US:237266003|UMLS:C0015944|SNOMEDCT_US:44223004|MSH:D005322 Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor. HP:0000457 Depressed nasal ridge biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000457 UMLS:C1842876 Retruded nasal dorsum|Recessed nasal dorsum|Retruded dorsum of nose|Retruded nasal ridge|Depressed nasal dorsum|Recessed dorsum of nose|Recessed nasal ridge|Flat nasal dorsum|Depressed dorsum of nose|Flat dorsum of nose|Flat nose Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge. HP:0001785 Ankle swelling biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001785 SNOMEDCT_US:26237000|SNOMEDCT_US:267039000|UMLS:C0235439 Ankle swelling HP:0000456 Bifid nasal tip biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000456 UMLS:C0426428|UMLS:C4020890|SNOMEDCT_US:249326006 Notched nasal tip|Bifid tip of nose|Notched tip of nose|Cleft tip of nose|Cleft nasal tip A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip. HP:0001786 Narrow foot biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001786 SNOMEDCT_US:299464006|UMLS:C0576227 Slender feet|Narrow foot A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length. HP:0011117 Abnormality of interleukin secretion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011117 UMLS:C4023530 Abnormality of IL secretion An abnormality in the production or cellular release of interleukins (a class of cytokines). HP:0012448 Delayed myelination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012448 UMLS:C1277241|SNOMEDCT_US:135810007 Delayed myelination. HP:0011118 Abnormality of tumor necrosis factor secretion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011118 UMLS:C4023529|MP:0008556 Abnormality of cachexin secretion|Abnormality of cachectin secretion|Abnormality of tumour necrosis factor secretion An abnormality in the production or cellular release of tumor necrosis factor. HP:0012449 Sacroiliac joint synovitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012449 UMLS:C4022900 Inflammation of the synovial membrane of the sacroiliac joint. HP:0011119 Abnormality of the nasal dorsum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011119 UMLS:C4021202|UMLS:C4280332 Deformity of the nasal dorsum|Abnormality of the dorsum of nose|Abnormality of the nasal ridge|Abnormal morphology of dorsum of nose|Crooked nasal dorsum|Anomaly of the nasal ridge|Malformation of the nasal dorsum|Deformity of the dorsum of the nose|Malformation of the nasal ridge|Crooked nasal ridge|Crooked dorsum of nose|Deformity of the nasal ridge|Malformation of the dorsum of nose An abnormality of the nasal dorsum, also known as the nasal ridge. HP:0001780 Abnormality of toe biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001780 UMLS:C2674738 Abnormalities of the toes|Abnormality of toe An anomaly of a toe. HP:0012430 Cerebral white matter hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012430 UMLS:C4020727|UMLS:C4022908 Paucity of cerebral white matter Underdevelopment of the cerebral white matter. HP:0012431 Episodic fatigue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012431 UMLS:C4022907 Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation. HP:0011100 Intestinal atresia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011100 UMLS:C0021828|MSH:D007409 An abnormal closure, or atresia of the tubular structure of the intestine. HP:0012432 Chronic fatigue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012432 UMLS:C0518656 Chronic fatigue|Chronic extreme exhaustion Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer. HP:0011102 Ileal atresia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011102 UMLS:C0266176|SNOMEDCT_US:25896009 An abnormal closure, or atresia of the tubular structure of the ileum. HP:0012433 Abnormal social behavior biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012433 UMLS:C4020726|UMLS:C4021087 Abnormal social behavior|Abnormal social interactions|Abnormal social behaviour An abnormality of actions or reactions of a person taking place during interactions with others. HP:0011103 Abnormal left ventricular outflow tract morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011103 UMLS:C0344916|SNOMEDCT_US:253545000 Abnormality of the left ventricular outflow tract An abnormality of the outflow tract of the left ventricle. HP:0012434 Delayed social development biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012434 UMLS:C4022906 Delayed social development A failure to meet one or more age-related milestones of social behavior. HP:0011104 Abnormality of blood volume homeostasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011104 UMLS:C4023537 An abnormality in the amount of volume occupied by intravascular blood. HP:0012435 Ventral shortening of foreskin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012435 UMLS:C4022905 Reduction in length of the ventral (lower) skin of prepuce of penis. HP:0011105 Hypervolemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011105 UMLS:C0546817|SNOMEDCT_US:21639008 Fluid overload in blood An increase in the amount of intravascular fluid, particularly in the volume of the circulating blood. HP:0012436 Nonocclusive coronary artery atherosclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012436 UMLS:C4020724|UMLS:C4020725 Non-occlusive coronary artery stenosis|Non-occlusive coronary artery disease|Nonocclusive coronary artery stenosis|Nonocclusive coronary artery disease Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries. HP:0001795 Hyperconvex nail biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001795 UMLS:C0423807|SNOMEDCT_US:247487009 Nail overcurvature|Increased nail curvature When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity. HP:0001792 Small nail biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001792 UMLS:C0263523|SNOMEDCT_US:11375002 Small nails|Hypoplastic nail|Hypoplastic nails|Small nail|Nail hypoplasia A nail that is diminished in length and width, i.e., underdeveloped nail. HP:0000464 Abnormality of the neck biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000464 UMLS:C0575167|SNOMEDCT_US:40052002|UMLS:C4280628|UMLS:C0266623|SNOMEDCT_US:298390003 Anomaly of the neck|Abnormality of the neck|Deformity of the neck|Malformation of the neck An abnormality of the neck. HP:0000463 Anteverted nares biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000463 SNOMEDCT_US:708670007|UMLS:C1840077 Upturned nasal tip|Nasal tip, upturned|Upturned nose|Upturned nares|Anteverted nostrils|Nostrils anteverted|Upturned nasal tips|Upturned nostrils|Anteverted nose 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). HP:0001798 Anonychia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001798 UMLS:C0265998|MSH:C536377|SNOMEDCT_US:23610003 Absent nails|Aplastic nails Aplasia of the nail. HP:0000466 Limited neck range of motion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000466 UMLS:C1859212 Limited neck range of motion|Limited cervical range of motion HP:0000465 Webbed neck biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000465 UMLS:C0221217|SNOMEDCT_US:11731003 Webbed neck|Pterygium colli|Neck webbing 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. HP:0001799 Short nail biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001799 SNOMEDCT_US:247488004|UMLS:C0423808 Short nail|Short nails Decreased length of nail. HP:0000468 Increased adipose tissue around the neck biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000468 UMLS:C4025850 Increased fat around the neck An increased amount of subcutaneous fat tissue around the neck. HP:0000467 Neck muscle weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000467 UMLS:C0240479 Flaccid neck|Neck muscle weakness|Floppy neck Decreased strength of the neck musculature. HP:0012437 Abnormal gallbladder morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012437 UMLS:C4022904 Abnormal gallbladder structure|Abnormal shape of gallbladder A structural anomaly of the gallbladder. HP:0011106 Hypovolemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011106 SNOMEDCT_US:28560003|MSH:D020896|UMLS:C0546884 Depleted blood volume An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood. HP:0011107 Recurrent aphthous stomatitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011107 SNOMEDCT_US:398870000|SNOMEDCT_US:426965005|SNOMEDCT_US:110426005|UMLS:C2937365|SNOMEDCT_US:427617000|UMLS:C0038363|MSH:D013281 Aphthous stomatitis|Recurrent oral aphthae|Recurrent canker sores|Recurrent aphthous ulcers|Buccal aphthous ulcers Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. HP:0012438 Abnormal gallbladder physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012438 UMLS:C4022903 A functional anomaly of the gallbladder. HP:0011108 Recurrent sinusitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011108 SNOMEDCT_US:195788001|UMLS:C4280333|UMLS:C0581354 Recurrent sinus disease|Sinusitis, recurrent A recurrent form of sinusitis. HP:0012439 Abnormal biliary tract physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012439 UMLS:C4022902 A functional abnormality of the biliary tree. HP:0011109 Chronic sinusitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011109 UMLS:C0149516|SNOMEDCT_US:40055000|UMLS:C0748720 Chronic sinus disease|Sinusitis, chronic A chronic form of sinusitis. HP:0001790 Nonimmune hydrops fetalis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001790 SNOMEDCT_US:206538000|MSH:D015160|SNOMEDCT_US:276509008|UMLS:C0455988 Hydrops fetalis, non-immune|Hydrops fetalis, nonimmune|Nonimmune hydrops|Non-immune fetal hydrops A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens . HP:0001791 Fetal ascites biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001791 SNOMEDCT_US:363125002|UMLS:C1285291 Foetal ascites Accumulation of fluid in the peritoneal cavity during the fetal period. HP:0000460 Narrow nose biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000460 UMLS:C0426422|SNOMEDCT_US:249322008 Narrow nose|Decreased nasal width|Thin nose|Decreased nasal breadth Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae. HP:0011175 Focal motor seizure with version biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011175 UMLS:C0422846|SNOMEDCT_US:246530009|MSH:D020938 Versive seizures|Versive seizure A type of focal motor seizure characterised by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation. HP:0011176 EEG with constitutional variants biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011176 UMLS:C4023496 An EEG with constitutional variants contains waves that are rare or unusual but not generally pathologic. HP:0011177 EEG with 4-5/second background activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011177 UMLS:C4023495 EEG background activity at 4-5/second. HP:0011178 Alpha-EEG biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011178 UMLS:C4023494 EEG dominated by diffuse alpha-waves (8-13Hz). HP:0011179 Beta-EEG biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011179 UMLS:C4023493 Beta wave electroencephalography EEG dominated by diffuse beta-waves (>13 Hz). HP:0011170 Generalized myoclonic-atonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011170 UMLS:C0393702|SNOMEDCT_US:230421008|MSH:D004831 Generalised myoclonic-atonic seizure|Myoclonic-astatic seizure|Myoclonic atonic seizures A generalized myoclonic-atonic seizure is a type of generalized motor seizure characterized by a myoclonic jerk followed by an atonic motor component. HP:0011171 Simple febrile seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011171 UMLS:C0149886|SNOMEDCT_US:432354000|MSH:D003294 Simple fever fit|Simple febrile convulsion|Simple febrile seizures A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance. HP:0011172 Complex febrile seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011172 SNOMEDCT_US:433083002|UMLS:C0751057|MSH:D003294 Complex febrile seizures|Complex fever fit|Complex febrile convulsion A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period. HP:0011173 Focal behavior arrest seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011173 UMLS:C4023498 Partial seizure with behavior arrest|Partial hypokinetic seizure|Focal hypokinetic seizure|Hypokinetic seizure|Localized seizure with behavioral arrest|Focal behaviour arrest seizure|Hypokinetic seizures|Localised seizure with behavioural arrest A type of focal non-motor seizure characterized by an arrest or pause of activities, freezing, or immobilization as the predominant semiological feature throughout the seizure. HP:0011174 Focal hyperkinetic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011174 UMLS:C4023497 Localized hyperkinetic seizure|Localised hyperkinetic seizure|Partial hyperkinetic seizure|Hyperkinetic seizures|Segmental hyperkinetic seizure A focal seizure characterized at onset by predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrusting, thrashing, rocking movements. HP:0011164 obsolete Vegetative auras biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011164 HP:0012495 Posterior cerebral artery stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012495 UMLS:C1504569 Narrowing or constriction of the inner surface (lumen) of the posterior cerebral artery. HP:0012496 Reduced maximal inspiratory pressure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012496 UMLS:C4022880 A decrease in the maximum amount of negative pressure a person can generate during an inhalation. HP:0011165 Focal sensory seizure with visual features biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011165 UMLS:C1850765 Partial visual seizure|Focal visual seizure|Visual aura|Visual auras|Simple partial occipital seizures A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation. HP:0011166 Focal myoclonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011166 UMLS:C4023501 Localised myoclonic seizure|Partial myoclonic seizures|Localized myoclonic seizure|Focal myoclonic seizures|Segmental myoclonic seizure|Partial myoclonic seizure|Local myoclonic seizures|Segmental myoclonic seizures 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. HP:0012497 Reduced maximal expiratory pressure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012497 UMLS:C4022879 A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration. HP:0012498 Nuchal cord biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012498 MSH:D053589|SNOMEDCT_US:302929008|UMLS:C0405124 A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times. HP:0011167 Focal tonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011167 UMLS:C0752324|MSH:D020938 Localised tonic seizure|Local tonic seizures|Localized tonic seizure|Partial tonic seizures|Segmental tonic seizure|Focal tonic seizures|Partial tonic seizure A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes. HP:0012499 Descending aortic dissection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012499 UMLS:C4022878 Type B aortic dissection A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space. HP:0011168 Eyelid myoclonias biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011168 UMLS:C4023500 Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures. HP:0011169 Generalized clonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011169 UMLS:C4023499 Generalized clonic seizures|Generalised onset clonic seizure|Generalised clonic seizure|Generalized-onset clonic seizure|Generalised-onset clonic seizure|Generalised clonic seizures|Generalized onset clonic seizure Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups. HP:0012490 Panniculitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012490 MSH:D015434|SNOMEDCT_US:22125009|UMLS:C0030326 Inflammation of adipose tissue|Inflammation of fat tissue Inflammation of adipose tissue. HP:0012491 Abnormal dense tubular system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012491 UMLS:C4022881 An anomaly of the intracellular membrane complexes known as the dense tubular system. HP:0011160 Focal sensory seizure with gustatory features biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011160 MSH:D006212|UMLS:C0233766|SNOMEDCT_US:29139005 Gustatory auras|Gustatory aura|Taste hallucinations|Focal gustatory seizure|Partial gustatory seizure|Focal sensory gustatory seizure A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes as its first clinical manifestation. HP:0011161 Focal sensory seizure with olfactory features biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011161 UMLS:C4023504 Focal olfactory seizure|Partial olfactory seizure|Olfactory aura|Olfactory auras Seizures characterized by olfactory phenomena as its first clinical manifestation. HP:0012492 Cerebral artery stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012492 UMLS:C1504438 Narrowing of a cerebral artery Narrowing or constriction of the inner surface (lumen) of a cerebral artery. HP:0012493 Middle cerebral artery stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012493 SNOMEDCT_US:21290001000004104|UMLS:C1504568 Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery. HP:0011162 obsolete Psychic auras biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011162 HP:0011163 Focal sensory seizure with somatosensory features biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011163 UMLS:C4023502 Somatosensory auras|Somatosensory aura|Focal somatosensory seizure|Partial somatosensory seizure A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move as its first clinical manifestation. HP:0012494 Anterior cerebral artery stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012494 UMLS:C1504567 Narrowing or constriction of the inner surface (lumen) of the anterior cerebral artery. HP:0011153 Focal motor seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011153 SNOMEDCT_US:128612007|MSH:D020938|SNOMEDCT_US:82401000|UMLS:C0016399 Localised motor seizure|Localized motor seizure|Segmental motor seizure|Partial motor seizures|Focal motor seizures|Localized motor seizures|Partial motor seizure A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation. HP:0012484 Abnormal dense granules biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012484 UMLS:C4022885 Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium, histamine and serotonin. HP:0012485 Abnormal surface-connected open canalicular system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012485 UMLS:C4021840 An anomaly of the invaginations of the surface membrane that form the open canalicular system (OCS). The OCS serve as the pathway for transport of substances into the cells and as conduits for the discharge of alpha granule products secreted during the platelet release reaction. HP:0011154 Focal autonomic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011154 UMLS:C4023509 Autonomic auras|Autonomic aura|Focal autonomic seizures|Vegetative auras An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature. HP:0012486 Myelitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012486 SNOMEDCT_US:41370002|UMLS:C0026975|MSH:D009187 Inflammation of spinal cord Inflammation of the spinal cord. HP:0011155 obsolete Focal autonomic seizures with altered responsiveness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011155 HP:0011156 obsolete Focal autonomic seizures without altered responsiveness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011156 HP:0012487 Cerebellopontine angle arachnoid cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012487 UMLS:C4022884 An arachnoid cyst located at the margin of the cerebellum and pons. HP:0011157 Focal sensory seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011157 SNOMEDCT_US:18618006|UMLS:C0236018|MSH:D004827 Sensory aura|Partial sensory seizure|Focal sensory seizures A focal sensory seizure is a type seizure beginning with a subjective sensation. HP:0012488 Intraventricular arachnoid cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012488 UMLS:C4022883 An arachnoid cyst located within the ventricular system. HP:0011158 Focal sensory seizure with auditory features biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011158 UMLS:C1838063 Focal sensory auditory seizure|Auditory aura|Focal auditory seizure|Partial auditory seizure A seizure characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones as its first clinical manifestation. HP:0012489 Suprasellar arachnoid cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012489 UMLS:C4022882 An arachnoid cyst that progressively enlarges from an abnormality in the membrane of Liliequist or in the interpeduncular cistern, and typically, expands from the prepontine space, displacing the floor of the third ventricle upwards, the pituitary stalk and optic chiasm upwards and forwards, and the mammillary bodies upwards and backwards. HP:0011159 Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011159 UMLS:C4023506 Partial seizure with epigastric sensation|Abdominal aura|Epigastric aura|Localised seizure with epigastric sensation|Localized seizure with epigastric sensation|Visceral aura|Epigastric auras A type of focal autonomic seizure characterised by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature. HP:0012480 Abnormal cerebral vein morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012480 UMLS:C4022888 Abnormality of cerebral veins An anomaly of cerebral veins. HP:0011150 Myoclonic absence seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011150 UMLS:C4023512 Myoclonic absences|Myoclonic absence Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017. HP:0012481 Cerebral venous angioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012481 UMLS:C1956261|MSH:D020787 Developmental Venous Anomaly A congenital malformation of veins which drain normal brain characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system. HP:0012482 Frontal venous angioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012482 UMLS:C4022887 A venous angioma of the frontal lobe of the brain. HP:0011151 Atypical absence status epilepticus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011151 UMLS:C4023511 Obtundation status Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure. HP:0012483 Abnormal alpha granules biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012483 UMLS:C4022886 Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury. HP:0011152 Early onset absence seizures biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011152 UMLS:C4023510 Early onset petit mal seizures Typical absence seizures starting before the age of 4 years. HP:0000495 Recurrent corneal erosions biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000495 UMLS:C0010043|UMLS:C0155119|SNOMEDCT_US:2055003|SNOMEDCT_US:91514001|MSH:D003320|UMLS:C4020888 Recurrent corneal ulceration|Corneal erosions, recurrent|Recurrent breakdown of clear protective layer of eye|Epithelial corneal erosions|Recurrent corneal ulcerations The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations. HP:0000494 Downslanted palpebral fissures biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000494 UMLS:C0423110|SNOMEDCT_US:246800008 Antimongoloid slant of palpebral fissures|Antimongoloid slanted palpebral fissures|Downslanting palpebral fissure|Down slanting palpebral fissures|Down-slanted palpebral fissures|Downward slanting palpebral fissures|Downward-slanting palpebral fissures|Downslanting palpebral fissures|Downward slanted palpebral fissures|Down-slanting palpebral fissures|Antimongoloid eye slant|Downward slanting of the opening between the eyelids|Down-slanting palpebral fissure|Palpebral fissures down-slanted The palpebral fissure inclination is more than two standard deviations below the mean. HP:0000497 Globe retraction and deviation on abduction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000497 UMLS:C4025848 HP:0000496 Abnormality of eye movement biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000496 UMLS:C0497202|SNOMEDCT_US:103252009 Abnormality of eye movement|Abnormal eye movements|Abnormal extraocular movement|Ocular movement abnormalities|Abnormal motility of the globe of the eye|Oculomotor abnormalities|Eye movement issue|Abnormal eye movement|Abnormal ocular movements|Abnormal movement of the globe of the eye|Abnormal eye motility|Eye movement abnormalities|Abnormal extraocular movements An abnormality in voluntary or involuntary eye movements or their control. HP:0000499 Abnormal eyelash morphology biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000499 UMLS:C2675111 Eyelash abnormality|Abnormal eyelashes|Abnormality of the eyelashes An abnormality of the eyelashes. HP:0000498 Blepharitis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000498 UMLS:C0005741|MSH:D001762|SNOMEDCT_US:41446000|SNOMEDCT_US:231796003|UMLS:C0339063 Cellulitis of eyelids|Inflammation of eyelids Inflammation of the eyelids. HP:0000491 Keratitis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000491 MSH:D007634|UMLS:C0022568|SNOMEDCT_US:5888003 Corneal inflammation Inflammation of the cornea. HP:0000490 Deeply set eye biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000490 UMLS:C0423224|SNOMEDCT_US:80093006|UMLS:C0014306|SNOMEDCT_US:246923005|MSH:D015841 Deep-set eyes|Enophthalmos|Sunken eye|Deeply set eye|Ocular depression|Sunken eyes|Deep set eye An eye that is more deeply recessed into the plane of the face than is typical. HP:0000493 Abnormal foveal morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0000493 UMLS:C4025849 Abnormality of the fovea An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina. HP:0000492 Abnormal eyelid morphology biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0000492 UMLS:C4021803 Abnormality of the eyelids|Abnormality of the eyelid An abnormality of the eyelids. HP:0012473 Tongue atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012473 UMLS:C0241423|SNOMEDCT_US:249382006|SNOMEDCT_US:50805004|UMLS:C0426494 Lingual wasting|Wasting of the tongue|Atrophy of the tongue|Lingual atrophy Wasting of the tongue. HP:0011142 Age-related nuclear cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011142 MSH:C563333|UMLS:C1832423 A type of age-related cataract that primarily affects the nucleus of the lens. HP:0012474 Carotid artery occlusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012474 SNOMEDCT_US:69798007|SNOMEDCT_US:266254007|UMLS:C0265101 Obstructed carotid artery Complete obstruction of a carotid artery. HP:0011143 Age-related cortical cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011143 UMLS:C2880562 A type of age-related cataract that primarily affects the cortex of the lens. HP:0011144 Age-related posterior subcapsular cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011144 UMLS:C4023517 A type of age-related cataract consisting of granular opacities occurring mainly in the central posterior cortex just under the posterior capsule. HP:0012475 Decreased circulating level of specific antibody biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012475 UMLS:C0398711|SNOMEDCT_US:234556002 Abnormal specific antibody response|Decreased specific antibody in blood|Specific antibody deficiency The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against a specific antigen or microorganism. HP:0012476 Decreased specific pneumococcal antibody level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012476 UMLS:C4022890 Low pneumococcal antibody titer|Specific pneumococcal antibody deficiency The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci. HP:0011145 Symptomatic seizures biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011145 UMLS:C4023516 A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed. HP:0012477 Vocal tremor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012477 UMLS:C4022889 Shakey voice|Vocal tremor A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability. HP:0011146 Dialeptic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011146 Unknown onset behavioural arrest seizure with impairment of awareness|Unknown onset behavioral arrest seizure with impairment of awareness|Behavioral arrest seizure with impairment of awareness irrespective of onset A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event. HP:0012478 Temporomandibular joint ankylosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012478 UMLS:C0685924|SNOMEDCT_US:50603008|UMLS:C2931375|UMLS:C0575010|SNOMEDCT_US:298231004|MSH:C536957|SNOMEDCT_US:91866004 Ankylosis of temporomandibular joint|Adhesion of the temporomandibular joint|Freezing of jaw joint|Rigidity of the temporomandibular joint|Temporomandibular joint fusion|Freezing of the temporomandibular joint Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening. HP:0011147 Typical absence seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011147 SNOMEDCT_US:50866000|SNOMEDCT_US:432241000124101|SNOMEDCT_US:230413002|UMLS:C0014553|MSH:D004832|SNOMEDCT_US:79631006 Typical absence|Typical absence seizures A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event. HP:0012479 Temporomandibular joint crepitus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012479 SNOMEDCT_US:298377005|UMLS:C0575154|UMLS:C4280315|UMLS:C4280314|UMLS:C4280313 Jaw joint sounds|Temporomandibular joint popping sound|Jaw joint grating sound|Temporomandibular joint sounds|Temporomandibular joint noise|Jaw joint popping sound|Jaw joint noise|Jaw joint clicking sound|Temporomandibular joint grating sound|Temporomandibular joint clicking sound|Jaw joint crepitus Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound. HP:0011148 obsolete Absence seizures with special features biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011148 HP:0011149 Absence seizure with eyelid myoclonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011149 UMLS:C4023513 Absence seizures with eyelid myoclonia An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterised by forced upward jerking of the eyelids during an absence seizure. HP:0012470 Setting-sun eye phenomenon biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012470 UMLS:C4020721|SNOMEDCT_US:63342001|UMLS:C0423128 Eyes fixed downward|Setting-sun eye phenomenon|Sun setting eyes|Sunsetting eye 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. HP:0011140 Gastrointestinal duplication biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011140 UMLS:C0266019|SNOMEDCT_US:33257003 GI 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. HP:0012471 Thick vermilion border biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012471 UMLS:C1836543 Increased volume of lip|Thick lips|Increased volume of lip vermillion|Prominent lips|Full lips|Plump lips Increased width of the skin of vermilion border region of upper lip. HP:0011141 Age-related cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0011141 UMLS:C0036646|SNOMEDCT_US:39450006 Clouding of the lens of the eye with age A type of cataract (opacification of the lens) that forms during the course of aging. HP:0012472 Eclabion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0012472 UMLS:C3550430 Eclabium|Outward turned lips|Everted lips A turning outward of the lip or lips, that is, eversion of the lips. HP:0100488 Synostosis of the proximal phalanx of the hallux with the 1st metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100488 UMLS:C4022043 Fusion of the innermost big toe bone with the 1st long bone of foot HP:0100489 Proximal/middle symphalangism of 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100489 UMLS:C4020972 Symphalangism of the middle and proximal phalanges of the 2nd toe|Fused middle and innermost bones of 2nd toe Bony fusion of the middle and proximal phalanges of the 2nd toe. HP:0100486 Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100486 UMLS:C4022045 Fused innermost pinky toe bone with the 5th long bone of foot HP:0100487 Triangular shaped distal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100487 UMLS:C4022044 Triangular shaped outermost bone of the pinky toe|Triangular shaped outermost bone of the pinkie toe|Triangular shaped outermost bone of the little toe HP:0100484 Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100484 UMLS:C4022047 Fused innermost bones of third toe with 3rd long bone of foot HP:0100485 Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100485 UMLS:C4022046 Fused innermost bone of the 4th toe with 4th long bone of foot HP:0100482 Proximal/middle symphalangism of 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100482 UMLS:C4020973 Fused innermost and middle pinky toe bones|Symphalangism of the middle and proximal phalanges of the 5th toe|Fused innermost and middle pinkie toe bones|Fused innermost and middle little toe bones Bony fusion of the middle and proximal phalanges of the 5th toe. HP:0100483 Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100483 UMLS:C4022048 Fused innermost bone of 2nd toe with the 2nd long bone of foot HP:0100480 Proximal/middle symphalangism of 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100480 UMLS:C4020975 Fused innermost and middle bones of 3rd toe|Symphalangism of the middle and proximal phalanges of the 3rd toe Bony fusion of the middle and proximal phalanges of the 3rd toe. HP:0100481 Proximal/middle symphalangism of 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100481 UMLS:C4020974 Symphalangism of the middle and proximal phalanges of the 4th toe|Fused innermost and middle bones of 4th toe Bony fusion of the middle and proximal phalanges of the 4th toe. HP:0100499 Tibial deviation of toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100499 UMLS:C3806533 Medial deviation of toes HP:0100497 Vitamin B3 deficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100497 MSH:D010383|SNOMEDCT_US:418279001|UMLS:C0030783|SNOMEDCT_US:418186002 Vitamin B3 deficiency HP:0100498 Deviation of toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100498 UMLS:C4022039 HP:0100495 Mastocytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100495 UMLS:C0024899|SNOMEDCT_US:125541005|MSH:D008415|SNOMEDCT_US:397007003 The presence of an increased number of mast cells and CD34+ mast cell precursors in the body. HP:0100496 Abnormality of the vitamin B3 metabolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100496 UMLS:C4022040 Abnormality of the vitamin B3 metabolism HP:0100493 Hypoammonemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100493 UMLS:C4022041 A decreased concentration of ammonia in the blood. HP:0100494 Abnormal mast cell morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100494 SNOMEDCT_US:397017008|UMLS:C1301149 Abnormality of mastocytes|Abnormality of mast cells Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation. HP:0100491 Abnormality of lower limb joint biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100491 UMLS:C4020971 Abnormality of the joints of the lower limbs|Abnormality of lower limb joint HP:0100492 Joint contractures involving the joints of the feet biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100492 UMLS:C4022042 Contractures of one ore more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue. HP:0100490 Camptodactyly of finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100490 SNOMEDCT_US:202281000|UMLS:C0409348 Contractures of the proximal interphalangeal joints of the fingers|Permanent flexion of the finger|Proximal interphalangeal finger joint contractures|Flexion contractures of proximal interphalangeal joints|Camptodactyly of hands|Camptodactyly of proximal interphalangeal joint 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. HP:0040290 obsolete Abnormality of skeletal muscles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040290 HP:0040291 Skeletal muscle steatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040291 Steatosis of skeletal muscle|Steatosis of skeletal muscles HP:0040294 Duplicated tongue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040294 Tongue duplicated|Duplication of tongue|Tongue duplication HP:0040295 Duplication of the upper lip biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040295 Double upper lip HP:0040292 Left hemiplegia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040292 Hemiplegia (left) HP:0040293 Right hemiplegia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040293 Hemiplegia (right) HP:0040298 Hyperplasia of the endometrium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040298 Hyperplastic endometrium HP:0040299 Decreased circulating free fatty acid level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040299 Low fatty acids level HP:0040296 Abnormal location of the eyebrow biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040296 Abnormally placed eyebrows|Abnormal location of eyebrows HP:0040297 Preauricular cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040297 Preauricular sinus is an occasional finding and most frequently appears as a small pit close to the anterior margin of the ascending portion of the helix. The opening has also been reported along the postero superior margin of the helix, the tragus or the lobule. Preauricular sinus may lead to the formation of a subcutaneous cyst that is intimately related to the tragal cartilage and the anterior crus of the helix. HP:0100402 Duplication of the middle phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100402 UMLS:C4020995 Duplication of the middle phalanx of the fourth toe|Duplication of the middle bone of the 4th toe|Partial/complete duplication of the middle phalanx of the 4th toe Partial or complete duplication of middle phalanx of fourth toe. HP:0040258 Hypoplastic nasopharyngeal adenoids biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040258 UMLS:C4280691 Underdeveloped nasopharyngeal adenoids Underdevelopment of the nasopharyngeal adenoids. HP:0100403 Duplication of the middle phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100403 UMLS:C4020994 Duplication of the middle bone of the little toe|Duplication of the middle bone of the pinkie toe|Duplication of the middle bone of the pinky toe|Duplication of the middle phalanx of the fifth toe|Partial/complete duplication of the middle phalanx of the 5th toe Partial or complete duplication of the middle phalanx of the 5th toe. HP:0040259 Aplastic nasopharyngeal adenoids biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040259 UMLS:C4280690 Absence of the nasopharyngeal adenoids as a developmental defect. HP:0100400 Duplication of the distal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100400 UMLS:C4020997 Duplication of the outermost bone of the fifth toe|Duplication of the outermost bone of the pinky toe|Duplication of the distal phalanx of the fifth toe|Duplication of the outermost bone of the pinkie toe|Duplication of the outermost bone of the little toe|Partial/complete duplication of the distal phalanx of the 5th toe Partial or complete duplication of the distal phalanx of little toe. HP:0040256 Aplastic/Hypoplastic nasopharyngeal adenoids biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040256 UMLS:C4280290 Adenoids small or absent Absence or underdevelopment of the nasopharyngeal adenoids. HP:0040257 Abnormal size of nasopharyngeal adenoids biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040257 UMLS:C4280692 A deviation in the size of nasopharyngeal adenoids. HP:0100401 Duplication of the middle phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100401 UMLS:C4020996 Duplication of the middle phalanx of the third toe|Partial/complete duplication of the middle phalanx of the 3rd toe|Duplication of the middle bone of the 3rd toe Partial or complete duplication of middle phalanx of third toe. HP:0040250 Reduced prothrombin antigen biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040250 UMLS:C4280698 Reduced prothrombin antigen as measured by ELISA assay. Prothrombin is a vitamin K-dependent coagulation factor that is proteolytically cleaved to form thrombin. HP:0040251 Hand dimple biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040251 UMLS:C4280697 Hand dimples A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the hand. HP:0100408 Complete duplication of the distal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100408 UMLS:C4020989 Complete duplication of the distal phalanx of the fourth toe|Complete duplication of the outermost bone of the 4th toe Complete duplication of the distal phalanx of fourth toe. HP:0100409 Complete duplication of the distal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100409 UMLS:C4020988 Complete duplication of the outermost bone of the little toe|Complete duplication of the outermost bone of the pinkie toe|Complete duplication of the outermost bone of the pinky toe|Complete duplication of the distal phalanx of the fifth toe Complete duplication of the distal phalanx of little toe. HP:0100406 Duplication of the proximal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100406 UMLS:C4020991 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 pinkie toe|Duplication of the innermost bone of the little toe|Duplication of the innermost bone of the pinky toe Partial or complete duplication of the proximal phalanx of fifth toe. HP:0040254 Decreased size of the clitoris biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040254 UMLS:C4280694 HP:0100407 Complete duplication of the distal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100407 UMLS:C4020990 Complete duplication of the distal phalanx of the third toe|Complete duplication of the outermost bone of the 3rd toe Complete duplication of distal phalanx of third toe. HP:0040255 Aplasia/Hypoplasia of the clitoris biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040255 UMLS:C4280693 HP:0100404 Duplication of the proximal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100404 UMLS:C4020993 Duplication of the innermost 3rd toe bone|Partial/complete duplication of the proximal phalanx of the 3rd toe|Duplication of the proximal phalanx of the third toe Partial or complete duplication of proximal phalanx of third toe. HP:0040252 Abnormal size of the clitoris biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040252 UMLS:C4280696 HP:0100405 Duplication of the proximal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100405 UMLS:C4020992 Duplication of the proximal phalanx of the fourth toe|Duplication of the innermost 4th toe bone|Partial/complete duplication of the proximal phalanx of the 4th toe Partial or complete duplication of the proximal phalanx of fourth toe. HP:0040253 Increased size of the clitoris biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040253 UMLS:C4280695 HP:0040269 Blocked Eustachian tube biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040269 UMLS:C0149508|SNOMEDCT_US:48145001 Obstruction of Eustachian tube HP:0100413 Complete duplication of the proximal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100413 UMLS:C4022105 Complete duplication of the innermost 3rd toe bone Complete duplication of proximal phalanx of third toe. HP:0100414 Complete duplication of the proximal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100414 UMLS:C4022104 Complete duplication of the innermost 4th toe bone HP:0100411 Complete duplication of the middle phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100411 UMLS:C4020986 Complete duplication of the middle bone of the 4th toe|Complete duplication of the middle phalanx of the fourth toe Complete duplication of middle phalanx of fourth toe. HP:0040267 Distal upper limb muscle hypertrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040267 UMLS:C4280685 HP:0100412 Complete duplication of the middle phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100412 UMLS:C4020985 Complete duplication of the middle bone of the pinkie toe|Complete duplication of the middle phalanx of the fifth toe|Complete duplication of the middle bone of the little toe|Complete duplication of the middle bone of the pinky toe Complete duplication of the middle phalanx of the 5th toe. HP:0040268 Recurrent infections of the middle ear biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040268 UMLS:C0747085 Increased susceptibility to middle ear infections, as manifested by recurrent episodes of middle ear infections HP:0100410 Complete duplication of the middle phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100410 UMLS:C4020987 Complete duplication of the middle bone of the 3rd toe|Complete duplication of the middle phalanx of the third toe Complete duplication of middle phalanx of third toe. HP:0040261 Increased size of nasopharyngeal adenoids biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040261 SNOMEDCT_US:111591002|SNOMEDCT_US:276442006|UMLS:C0455938|UMLS:C0149825 Adenoid hypertrophy|Adenoids large An abnormal increase in the size of nasopharyngeal adenoids. HP:0040262 Glue ear biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040262 SNOMEDCT_US:78868004|UMLS:C0029883|MSH:D010034 Middle ear is filled with glue-like fluid instead of air. HP:0100419 Partial duplication of the middle phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100419 UMLS:C4020980 Partial duplication of the middle bone of 3rd toe|Partial duplication of the middle phalanx of the third toe Partial duplication of middle phalanx of third toe. HP:0040260 Decreased size of nasopharyngeal adenoids biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040260 UMLS:C4280689 An abnormal decrease in the size of nasopharyngeal adenoids. HP:0100417 Partial duplication of the distal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100417 UMLS:C4020982 Partial duplication of the outermost bone of the fourth toe|Partial duplication of the distal phalanx of the fourth toe Partial duplication of the distal phalanx of fourth toe. HP:0040265 Upper limb muscle hypertrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040265 UMLS:C4280687 HP:0100418 Partial duplication of the distal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100418 UMLS:C4020981 Partial duplication of the outermost bone of the pinkie toe|Partial duplication of the outermost bone of the little toe|Partial duplication of the outermost bone of the pinky toe|Partial duplication of the outermost bone of the fifth toe|Partial duplication of the distal phalanx of the fifth toe Partial duplication of the distal phalanx of little toe. HP:0040266 Proximal upper limb muscle hypertrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040266 UMLS:C4280686 HP:0040263 Jaw ankylosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040263 UMLS:C0563350|UMLS:C4280688|SNOMEDCT_US:285466001 Difficulty opening mouth HP:0100415 Complete duplication of the proximal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100415 UMLS:C4020984 Complete duplication of the innermost bone of the pinky toe|Complete duplication of the innermost bone of the little toe|Complete duplication of the innermost bone of the pinkie toe|Complete duplication of the proximal phalanx of the fifth toe Complete duplication of the proximal phalanx of fifth toe. HP:0040264 Jaw pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040264 SNOMEDCT_US:274667000|UMLS:C0236000 Jaw pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw. HP:0100416 Partial duplication of the distal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100416 UMLS:C4020983 Partial duplication of the distal phalanx of the third toe|Partial duplication of the outermost bone of the 3rd toe Partial duplication of distal phalanx of third toe. HP:0100424 Partial duplication of the proximal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100424 UMLS:C4020976 Partial duplication of the innermost bone of the pinky toe|Partial duplication of the proximal phalanx of the fifth toe|Partial duplication of the innermost bone of the pinkie toe|Partial duplication of the innermost bone of the little toe Partial duplication of the proximal phalanx of fifth toe. HP:0100425 Broad middle phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100425 UMLS:C4022102 Broad middle 3rd toe bone HP:0100422 Partial duplication of the proximal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100422 UMLS:C4020977 Partial duplication of the innermost bone of 3rd toe|Partial duplication of the proximal phalanx of the third toe Partial duplication of proximal phalanx of third toe. HP:0040278 Prolactinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040278 A benign tumor (adenoma) of the pituitary gland HP:0100423 Partial duplication of the proximal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100423 UMLS:C4022103 Partial duplication of the innermost bone of 4th toe HP:0040279 Frequency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040279 Class to represent frequency of phenotypic abnormalities within a patient cohort. HP:0100420 Partial duplication of the middle phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100420 UMLS:C4020979 Partial duplication of the middle phalanx of the fourth toe|Partial duplication of the middle bone of the 4th toe Partial duplication of middle phalanx of fourth toe. HP:0100421 Partial duplication of the middle phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100421 UMLS:C4020978 Partial duplication of the middle bone of the pinky toe|Partial duplication of the middle bone of the little toe|Partial duplication of the middle bone of the pinkie toe|Partial duplication of the middle phalanx of the fifth toe Partial duplication of the middle phalanx of the 5th toe. HP:0003288 Mitochondrial propionyl-CoA carboxylase defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003288 UMLS:C4025634 Mitochondrial PCC defect HP:0040272 Hyperintensity of MRI T2 signal of the spinal cord biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040272 UMLS:C4280684 A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord. HP:0003282 Low alkaline phosphatase biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003282 UMLS:C1860130 Low ALP|Decreased serum alkaline phosphatase Abnormally reduced serum levels of alkaline phosphatase. HP:0040273 Adenocarcinoma of the intestines biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040273 UMLS:C4280683|NCIT:C2852 A malignant epithelial tumor with a glandular organization that originates in the intestines. HP:0003281 Increased circulating ferritin concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003281 UMLS:C0241013|UMLS:C3854388|UMLS:C0743912 Hyperferritinemia|Increased serum ferritin level|Increased ferritin|Elevated serum ferritin|High ferritin level|Increased plasma ferritin|Hyperferritinaemia Abnormal raised concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood. HP:0040270 Impaired glucose tolerance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040270 MP:0005291|UMLS:C0151671 Glucose tolerance decreased|Decreased 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. HP:0003287 Abnormality of mitochondrial metabolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003287 UMLS:C4021734 Mitochondrial dysfunction A functional anomaly of mitochondria. HP:0040276 Adenocarcinoma of the colon biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040276 NCIT:C2852|UMLS:C0338106 HP:0100428 Broad proximal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100428 UMLS:C4022099 Wide innermost bone of 3rd toe HP:0003286 Cystathioninemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003286 UMLS:C0268618|SNOMEDCT_US:6669004 High blood cystathionine levels An increased concentration of cystathionine in the blood. HP:0100429 Broad proximal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100429 UMLS:C4022098 Wide innermost bone of 4th toe HP:0040277 Neoplasm of the pituitary gland biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040277 NCIT:C3262 HP:0040274 Adenocarcinoma of the small intestine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040274 UMLS:C0278803|NCIT:C2852|SNOMEDCT_US:424440001 A malignant epithelial tumor with a glandular organization that originates in the small intestine. HP:0100426 Broad middle phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100426 UMLS:C4022101 Broad middle 4th toe bone HP:0040275 Adenocarcinoma of the large intestine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040275 SNOMEDCT_US:408645001|NCIT:C2852|UMLS:C1319315 A malignant epithelial tumor with a glandular organization that originates in the large intestine. HP:0100427 Broad middle phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100427 UMLS:C4022100 Broad middle bone of the pinky toe|Broad middle bone of the little toe|Broad middle bone of the pinkie toe HP:0100435 Bullet-shaped middle phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100435 UMLS:C4022092 Bullet-shaped middle bone of the 4th toe An abnormal morphology of the middle phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. HP:0100436 Bullet-shaped middle phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100436 UMLS:C4022091 Bullet-shaped middle bone of the pinkie toe|Bullet-shaped middle bone of the little toe|Bullet-shaped middle bone of the pinky toe An abnormal morphology of the middle phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. HP:0040289 Cyclic neutropenia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040289 CyN Recurrent episodes of abnormally low levels of neutrophils in the body (neutropenia). HP:0100433 Broad distal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100433 UMLS:C4022094 Broad outermost bone of the 5th toe|Wide outermost bone of the little toe|Wide outermost bone of the pinkie toe|Wide outermost bone of the pinky toe HP:0100434 Bullet-shaped middle phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100434 UMLS:C4022093 Bullet-shaped middle bone of the 3rd toe An abnormal morphology of the middle phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. HP:0100431 Broad distal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100431 UMLS:C4022096 Broad outermost bone of the 3rd toe|Wide outermost bone of the 3rd toe HP:0100432 Broad distal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100432 UMLS:C4022095 Wide outermost bone of the 4th toe|Broad outermost bone of the 4th toe HP:0100430 Broad proximal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100430 UMLS:C4022097 Broad innermost bone of the little toe|Broad innermost bone of the pinkie toe|Broad innermost bone of the pinky toe HP:0040280 Obligate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040280 ORPHA:453310 Obligate (100%) Always present, i.e. in 100% of the cases. HP:0040283 Occasional biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040283 ORPHA:453313 Occasional (29-5%) Present in 5% to 29% of the cases. HP:0040284 Very rare biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040284 ORPHA:453314 Very rare (<4-1%)|Very rare (<4-1%) Present in 1% to 4% of the cases. HP:0040281 Very frequent biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040281 ORPHA:453311 Very frequent (99-80%) Present in 80% to 99% of the cases. HP:0003292 Decreased serum leptin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003292 UMLS:C1837802 Decreased serum leptin|Reduced circulating leptin level A decreased concentration of leptin in the blood. HP:0040282 Frequent biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040282 ORPHA:453312 Frequent (79-30%) Present in 30% to 79% of the cases. HP:0003298 Spina bifida occulta biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003298 SNOMEDCT_US:76916001|MSH:D016136|UMLS:C0080174 The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin. HP:0100439 Bullet-shaped proximal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100439 UMLS:C4022088 Bullet-shaped innermost bone of pinky toe|Bullet-shaped innermost bone of little toe|Bullet-shaped innermost bone of pinkie toe An abnormal morphology of the proximal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. HP:0040287 Axial muscle atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040287 HP:0003297 Hyperlysinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003297 UMLS:C4021733 High urine lysine levels|Lysinuria An increased concentration of lysine in the urine. HP:0040288 Nasogastric tube feeding biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040288 The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food. HP:0003296 Hyperthreoninuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003296 UMLS:C2673931 High urine threonine levels An increased concentration of threonine in the urine. HP:0040285 Excluded biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040285 ORPHA:453315 Excluded (0%) Present in 0% of the cases. HP:0100437 Bullet-shaped proximal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100437 UMLS:C4022090 Bullet-shaped proximal bone 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. HP:0003295 obsolete Impaired FSH and LH secretion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003295 HP:0040286 Abnormal axial muscle morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040286 Abnormality of axial muscles A structural anomaly of the muscles of the trunk and head. HP:0100438 Bullet-shaped proximal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100438 UMLS:C4022089 Bullet-shaped proximal bone of the 4th toe An abnormal morphology of the proximal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. HP:0040214 Abnormal insulin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040214 UMLS:C4073160 An abnormal concentration of insulin in the body. HP:0100446 Curved proximal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100446 UMLS:C4022081 Curved innermost bone of 3rd toe A deviation from the normal straight form of the proximal phalanx of the third toe. HP:0100447 Curved proximal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100447 UMLS:C4022080 Curved innermost bone of the 4th toe A deviation from the normal straight form of the proximal phalanx of the fourth toe. HP:0040215 Abnormal circulating insulin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040215 UMLS:C4073161 An abnormal concentration of insulin in the blood. HP:0100444 Curved middle phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100444 UMLS:C4022083 Curved middle bone of 4th toe A deviation from the normal straight form of the middle phalanx of the fourth toe. HP:0040212 Risus sardonicus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040212 UMLS:C0343494|SNOMEDCT_US:64314006 Rictus grin Fixed sarcastic grimace and anxious expression. Caused by spasms of the masseter and other facial muscles. HP:0100445 Curved middle phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100445 UMLS:C4022082 Curved middle bone of little toe|Curved middle bone of pinkie toe|Curved middle bone of pinky toe A deviation from the normal straight form of the middle phalanx of the fifth toe. HP:0040213 Hypopnea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040213 UMLS:C0235546|SNOMEDCT_US:386614005 Hypopnea is referring to breathing that is abnormally shallow. HP:0040218 Reduced natural killer cell count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040218 UMLS:C1855767 Reduced natural killer cell number|Reduced NK cell number Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor. HP:0100442 Bullet-shaped distal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100442 UMLS:C4022085 Bullet-shaped outermost bone of the pinky toe|Bullet-shaped outermost bone of the little toe|Bullet-shaped outermost bone of the pinkie toe An abnormal morphology of the distal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. HP:0040219 Absent natural killer cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040219 UMLS:C4073163 Absent NK cells Lack of natural killer cells, a type of lymphocyte in the innate immune system that contains cytoplasmic granzymes, i.e., small granules with perforin and proteases that allow natural killer cells to form pores in the cell membrane of the target cell through which the granzymes and associated molecules can enter, inducing apoptosis. HP:0100443 Curved middle phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100443 UMLS:C4022084 Curved middle bone of 3rd toe A deviation from the normal straight form of the middle phalanx of the third toe. HP:0100440 Bullet-shaped distal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100440 UMLS:C4022087 Bullet-shaped outermost bone of the 3rd toe An abnormal morphology of the distal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. HP:0040216 Hypoinsulinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040216 UMLS:C2748055 A decreased concentration of insulin in the blood. HP:0040217 Elevated hemoglobin A1c biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040217 UMLS:C4073162 Elevated glycosylated hemoglobin|Increased HbA1c levels|Elevated HbA1c|Elevated glycated hemoglobin|Elevated haemoglobin A1c An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements. HP:0100441 Bullet-shaped distal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100441 UMLS:C4022086 Bullet-shaped outermost bone 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. HP:0030891 Periventricular white matter hyperdensities biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030891 Periventricular white matter hyperintensities|Periventricular cerebral white matter hyperdensities|PVWMH Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles. HP:0030892 Deep cerebral white matter hyperdensities biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030892 DWMH|Deep white matter hyperintensities Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system. HP:0030893 Abnormal response to short acting pulmonary vasodilator biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030893 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. HP:0030894 Insufficient response to short acting pulmonary vasodilator biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030894 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. HP:0030890 Hyperintensity of cerebral white matter on MRI biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030890 White matter hyperintensity A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter. HP:0030899 Pruritis on hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030899 Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the hand. HP:0030895 Abnormal gastrointestinal motility biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030895 Abnormal GI motility An anomaly of the muscular contractions that propel food though the gastrointestinal tract. HP:0030896 Abnormal gastrointestinal transit time biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030896 Abnormal GI transit time A deviation from the normal amount of time required for food to pass through the intestines. HP:0030897 Decreased intestinal transit time biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030897 A reduction in the length of time required for food to pass through the intestines. HP:0030898 Pruritis on abdomen biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030898 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. HP:0040210 Abnormal circulating biopterin concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040210 UMLS:C4073158 A deviation from the normal concentration of biopterin in the blood circulation. HP:0040211 Abnormal skin morphology of the palm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040211 UMLS:C4073159 An abnormality of the skin of the palm, that is, the skin of the front of the hand. HP:0100448 Curved proximal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100448 UMLS:C4022079 Curved innermost pinky toe bone|Curved innermost pinkie toe bone|Curved innermost little toe bone A deviation from the normal straight form of the proximal phalanx of the fifth toe. HP:0100449 Curved distal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100449 UMLS:C4022078 Curved outermost bone of the 3rd toe A deviation from the normal straight form of the distal phalanx of the third toe. HP:0100457 Osteolytic defects of the proximal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100457 UMLS:C4022070 HP:0040225 Decrease in high molecular weight von Willebrand factor Multimers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040225 UMLS:C4280718 Decrease in HMW VWF multimers A decrease in high molecular weight von Willebrand factor multimers. HP:0040226 Decreased level of heparin co-factor II biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040226 UMLS:C4280717 Heparin co-factor II deficiency An abnormality of coagulation related to a decreased concentration of heparin co-factor II HP:0100458 Osteolytic defects of the distal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100458 UMLS:C4022069 Osteolytic defects of the outermost bone of the 3rd toe HP:0100455 Osteolytic defects of the proximal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100455 UMLS:C4022072 HP:0040223 Pulmonary hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040223 UMLS:C4280720 Intrapulmonary hemorrhage|Pulmonary haemorrhage 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. HP:0100456 Osteolytic defects of the proximal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100456 UMLS:C4022071 HP:0040224 Abnormality of fibrinolysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040224 UMLS:C4280719 Abnormality of the fibrinolytic system Clincial phenotype characterized by delayed bleeding accelerated break down of blood clot (fibrinolysis) HP:0040229 Decreased level of thrombomodulin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040229 UMLS:C4255334 BDCA-3 Thrombomodulin is a cofactor in the thrombin induced activation of Protein C. In the case of deficiency there will be less Protein C and tendency to clot HP:0100453 Osteolytic defects of the middle phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100453 UMLS:C4022074 HP:0100454 Osteolytic defects of the middle phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100454 UMLS:C4022073 HP:0100451 Curved distal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100451 UMLS:C4022076 Curved outermost bone of the pinky toe|Curved outermost bone of the pinkie toe|Curved outermost bone of the little toe A deviation from the normal straight form of the distal phalanx of the fifth toe. HP:0040227 Decreased level of histidine-rich glycoprotein biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040227 UMLS:C4280716 Decrease of these levels result in increased inhibition of fibrinolysis and reduced inhibition of coagulation HP:0040228 Decreased level of plasminogen biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040228 UMLS:C4280715 Hypoplasminogenemia A decreased level of Plasminogen HP:0100452 Osteolytic defects of the middle phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100452 UMLS:C4022075 HP:0100450 Curved distal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100450 UMLS:C4022077 Curved outermost bone of the 4th toe A deviation from the normal straight form of the distal phalanx of the fourth toe. HP:0040221 Hypoplasia of the dental root biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040221 UMLS:C4280722 HP:0040222 Maternal thrombophilia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040222 UMLS:C4280721 An increased tendency towards thrombosis in the mother during a pregnancy. HP:0100459 Osteolytic defects of the distal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100459 UMLS:C4022068 Osteolytic defects of the outermost bone of the 4th toe HP:0040220 Abnormal size of the dental root biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040220 UMLS:C4280723 HP:0040236 Hyperfibrinolysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040236 UMLS:C3805089 Increased degradation of fibrin, associated with clot instability and bleeding HP:0100468 Patchy sclerosis of the distal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100468 UMLS:C4022059 Uneven increase in bone density in the outermost bone 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. HP:0100469 Patchy sclerosis of the distal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100469 UMLS:C4022058 Uneven increase in bone density in the outermost pinky toe bone|Uneven increase in bone density in the outermost pinkie toe bone|Uneven increase in bone density in the outermost little toe bone Patchy (irregular) increase in bone density of the distal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. HP:0040237 Impaired binding of factor VIII to VWF biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040237 UMLS:C4280710 von Willebrand Disease Type II Normandy Impaired binding of factor VIII to von Willebrand Factor. This is determined using a modified ELISA assay. HP:0100466 Patchy sclerosis of the proximal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100466 UMLS:C4022061 Uneven increase in bone density in the innermost bone of the little toe|Uneven increase in bone density in the innermost bone of the pinkie toe|Uneven increase in bone density in the innermost bone of the pinky toe Uneven increase in bone density of the proximal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. HP:0040234 Factor XIII subunit B deficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040234 MSH:C567688|UMLS:C2750481 Reduced factor XIII, subunit B Deficiency of factor XIII subunit B, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot. HP:0100467 Patchy sclerosis of the distal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100467 UMLS:C4022060 Uneven increase in bone density in the outermost bone of the 3rd toe HP:0040235 Leukocyte inclusion bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040235 UMLS:C4280711 Dohle-like leukocyte inclusion bodies|Inclusion bodies in leukocytes The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in leukocytes. HP:0100464 Patchy sclerosis of the proximal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100464 UMLS:C4022063 Uneven increase in bone density in the innermost bone of the 3rd toe HP:0100465 Patchy sclerosis of the proximal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100465 UMLS:C4022062 Uneven increase in bone density in the innermost bone of the 4th toe Uneven increase in bone density of the proximal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. HP:0040238 Impaired neutrophil chemotaxis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040238 UMLS:C4280709 Neutrophil migratory defect An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response HP:0100462 Patchy sclerosis of the middle phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100462 UMLS:C4022065 Uneven increase in bone density in middle bone of the 4th toe Uneven increase in bone density of the middle phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. HP:0100463 Patchy sclerosis of the middle phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100463 UMLS:C4022064 Uneven increase in bone density in the middle bone of the pinkie toe|Uneven increase in bone density in the middle bone of the little toe|Uneven increase in bone density in the middle bone of the pinky toe Uneven increase in bone density of the middle phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. HP:0040239 Increased plasma vitamin K epoxide after vitamin K supplementation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040239 UMLS:C4280708 Increased plasma vitamin K epoxide after vitamin K supplementation is present in VKCFD (vitamin K-dependent clotting factor deficiency) type 2, but not in VKCFD type 1. HP:0100460 Osteolytic defects of the distal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100460 UMLS:C4022067 Osteolytic defects of the outermost bone of the 5th toe HP:0100461 Patchy sclerosis of the middle phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100461 UMLS:C4022066 Uneven increase in bone density in the middle bone of the 3rd toe HP:0040232 Delayed onset bleeding biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040232 UMLS:C4280712 Abnormal bleeding related to a procedure or trauma which does not start at the time of the initial insult, but after delay by at least 24 hours. HP:0040233 Factor XIII subunit A deficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040233 MSH:C567691|UMLS:C2750514 Reduced factor XIII, subunit A Deficiency of factor XIII subunit A, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot. HP:0040230 Decreased level of tissue plasminogen activator biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040230 UMLS:C4280714 Decreased level of tPA The tPA protein catalyzes the conversion of plasiminogen to plasmin, and thus break down of clots. When there is a deficiency there will be an increase of thrombosis HP:0040231 Abnormal onset of bleeding biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040231 UMLS:C4280713 HP:0040247 Reduced euglobulin clot lysis time biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040247 UMLS:C4280701 Abnormally decreased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored. HP:0040248 Reduced plasminogen activator inhibitor 1 activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040248 UMLS:C4280700 Reduced activity of plasminogen activator inhibitor 1. This protein down-regulates fibrinolysis in the circulation by inhibiting the two major plasminogen activators: tissue-plasminogen activator and urokinase-plasminogen activator. HP:0040245 Reduced alpha-2-antiplasmin activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040245 UMLS:C4280703 Reduced activity of alpha-2-antiplasmin. This protein inactivates the protease plasmin that drives fibrinolysis. HP:0100477 Symphalangism affecting the distal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100477 UMLS:C4022050 Fused outermost bone of the 4th toe HP:0100478 Symphalangism affecting the distal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100478 UMLS:C4022049 Fused outermost bones of the pinky toe|Fused outermost bones of the little toe|Fused outermost bones of the pinkie toe HP:0040246 Reduced antithrombin antigen biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040246 UMLS:C4280702 Reduced antithrombin antigen. A reduced level of antithrombin may lead to an increased risk of thrombus formation. HP:0100475 Symphalangism affecting the proximal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100475 UMLS:C4022052 Fused innermost bone of pinkie toe|Fused innermost bone of little toe|Fused innermost bone of pinky toe HP:0100476 Symphalangism affecting the distal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100476 UMLS:C4022051 Fused outermost bone of 3rd toe HP:0040249 Reduced plasminogen activator inhibitor 1 antigen biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040249 UMLS:C4280699 Reduced level of plasminogen activator inhibitor 1 antigen. HP:0100473 Symphalangism affecting the proximal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100473 UMLS:C4022054 Fused innermost bone of 3rd toe HP:0100474 Symphalangism affecting the proximal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100474 UMLS:C4022053 Fused innermost bones of 4th toe HP:0100471 Symphalangism affecting the middle phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100471 UMLS:C4022056 Fused middle bones of 4th toe HP:0100472 Symphalangism affecting the middle phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100472 UMLS:C4022055 Fused middle bones of 5th toe HP:0100470 Symphalangism affecting the middle phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100470 UMLS:C4022057 Fused middle bones of 3rd toe HP:0040240 Increased ratio of VWF propeptide to VWF antigen biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040240 UMLS:C4280707 An increased VWF propeptide to VWF antigen indicates that deficiency of VWF is not due to impaired synthesis but due to rapid clearance. The VWF propeptide is measured by ELISA. HP:0040243 Prolonged euglobulin clot lysis time biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040243 UMLS:C4280705 Abnormally increased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored. HP:0040244 Prolonged Russell's viper venom time biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040244 UMLS:C4280704 Increased time to coagulation in the Russell's viper venom assay HP:0040241 Increased RIPA biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040241 UMLS:C4280706 Increased platelet agglutination in response to low-dose ristocetin HP:0040242 Muscle hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040242 SNOMEDCT_US:95422003|UMLS:C0151702 Muscle haemorrhage Bleeding occuring within a muscle HP:0030850 Abnormal pulse pressure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030850 UMLS:C0855322 An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure. HP:0030855 Anterior staphyloma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030855 UMLS:C0339206|SNOMEDCT_US:231888000 A localized defect in the anterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. HP:0003225 Reduced coagulation factor V activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003225 MSH:D005166|UMLS:C0015499|SNOMEDCT_US:4320005|SNOMEDCT_US:88776002 Reduced factor V activity|Factor V deficiency Decreased activity of coagulation factor V. HP:0003224 Increased cellular sensitivity to UV light biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003224 UMLS:C1857707 HP:0030856 Posterior staphyloma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030856 UMLS:C0155360|SNOMEDCT_US:87819007 A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. HP:0003223 Decreased methylcobalamin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003223 UMLS:C4021736 Methylcobalamin deficiency Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12. HP:0030857 Eye movement-induced pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030857 UMLS:C4280742 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding. HP:0004554 Generalized hypertrichosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004554 UMLS:C3277940 Generalised hypertrichosis Generalized excessive, abnormal hairiness. HP:0030858 Addictive behavior biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030858 SNOMEDCT_US:32709003|MSH:D016739|UMLS:C0085281 Addictive behaviour A recurrent pattern of behavior that is characeterized by the failure to resist an impulse, drive, or temptation to perform an act that is harmful to the person or to others. The repetitive engagement in these behaviors ultimately interferes with functioning in other domains. HP:0030851 Low pulse pressure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030851 UMLS:C4280743 Reduced amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure). HP:0003228 Hypernatremia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003228 SNOMEDCT_US:286926003|MSH:D006955|SNOMEDCT_US:39355002|UMLS:C0020488 High blood sodium levels An abnormally increased sodium concentration in the blood. HP:0005885 Absent ossification of cervical vertebral bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005885 UMLS:C4025115 A lack of bone mineralization of one or more body of cervical vertebra. HP:0030852 High pulse pressure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030852 UMLS:C0855323 Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure). HP:0030853 Heterotaxy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030853 SNOMEDCT_US:14821001|SNOMEDCT_US:24614000|UMLS:C0266642|MSH:D059446|Fyler:190|Fyler:0190 Heterotaxia An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body. HP:0004558 Cervical platyspondyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004558 UMLS:C1856641 Flattened cervical vertebral bodies A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine. HP:0005886 Aphalangy of the hands biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005886 UMLS:C4025114 Absence of a digit or of one or more phalanges of a finger. HP:0003226 Rectilinear intracellular accumulation of autofluorescent lipopigment storage material biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003226 UMLS:C1850447 Rectilinear profiles ultrastructurally An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern. HP:0004557 Anterior vertebral fusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004557 UMLS:C1969393 HP:0030854 Scleral staphyloma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030854 SNOMEDCT_US:111534007|UMLS:C0155359 Staphyloma A staphyloma is a localized defect in the eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. HP:0005880 Metacarpophalangeal synostosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005880 UMLS:C4025117 Fused long bone of hand with innermost finger bone Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint. HP:0005881 Spinal instability biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005881 UMLS:C0410648|SNOMEDCT_US:240220009 HP:0005882 Dermatoglyphic variants biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005882 UMLS:C4025116 HP:0004552 Scarring alopecia of scalp biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004552 UMLS:C3806301 Cicatricial alopecia|Hair loss on scalp from scarring condition HP:0030859 Anti-topoisomerase I antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030859 UMLS:C4280741 Top1 antibody positivity|Topoisomerase (DNA) I antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against topoisomerase I. HP:0003221 Chromosomal breakage induced by crosslinking agents biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003221 UMLS:C4021737 Chromosomal breakage induced by mitomycin C|Chromosomal breakage induced by diepoxybutane Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C. HP:0003220 Abnormality of chromosome stability biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003220 UMLS:C0376628|MSH:D019457|UMLS:C1859424 A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration. HP:0030860 Abnormal CSF amyloid level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030860 UMLS:C4280740 Abnormal CSF A[beta]42 level Abnormal concentration of amyloid in the cerebrospinal fluid (CSF). HP:0030861 Decreased CSF amyloid level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030861 UMLS:C4280739 Reduced concentration of amyloid in the cerebrospinal fluid (CSF). HP:0003236 Elevated serum creatine kinase biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003236 UMLS:C0241005|UMLS:C0151576 Elevated blood creatine phosphokinase|Increased serum CK|Elevated serum CPK|Increased CPK|Elevated serum creatine phosphokinase|Increased creatine phosphokinase|Increased serum creatine phosphokinase|Elevated creatine kinase|Increased serum creatine kinase|Elevated circulating creatine phosphokinase|Elevated serum creatine kinase|High serum creatine kinase|Increased creatine kinase An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy. HP:0030866 Large knee biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030866 UMLS:C4280736 Abnormally increased size of the knee joint. HP:0005899 Metaphyseal dysostosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005899 UMLS:C0265290|SNOMEDCT_US:28681006 Abnormal mineralization of the metaphyseal area of bones. HP:0004566 Pear-shaped vertebrae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004566 UMLS:C1866731 Pear-shaped vertebral bodies Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours. HP:0030867 Vertical orbital dystopia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030867 SNOMEDCT_US:253243008|UMLS:C0431460 Eyes at different heights|Misaligned eyes|Unequal eye height The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other. HP:0003235 Hypermethioninemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003235 UMLS:C0268621|MSH:C564683|SNOMEDCT_US:57835009|SNOMEDCT_US:124283007|SNOMEDCT_US:43123004 Increased methionine in blood|Methioninemia An increased concentration of methionine in the blood. HP:0030868 Monorchism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030868 UMLS:C0266429|SNOMEDCT_US:87310001 Monorchidism Having only one testis in the scrotum. HP:0003234 Decreased plasma carnitine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003234 SNOMEDCT_US:421784001|UMLS:C1142132 Decreased plasma carnitine|Carnitine deficiency A decreased concentration of carnitine in the blood. HP:0004565 Severe platyspondyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004565 UMLS:C1850293 platyspondyly, extreme HP:0003233 Decreased HDL cholesterol concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003233 UMLS:C0151691|MSH:D052456|UMLS:C0473527|SNOMEDCT_US:190785000 Decreased HDL cholesterol|Decreased circulating high-density lipoprotein levels|Decreased circulating high-density lipoprotein cholesterol|Hypoalphalipoproteinemia|Low HDL-cholesterol An decreased concentration of high-density lipoprotein cholesterol in the blood. HP:0030869 Anorchism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030869 MSH:C537770|SNOMEDCT_US:371015003|UMLS:C1261504 An abnormality of XY sexual development characterized by the absence of both testes at birth. HP:0005895 Radial deviation of thumb terminal phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005895 UMLS:C4025111 HP:0030862 Elevated CSF amyloid level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030862 UMLS:C4280738 Increased concentration of amyloid in the cerebrospinal fluid (CSF). HP:0030863 Nasal flaring biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030863 SNOMEDCT_US:21558008|SNOMEDCT_US:248568003|UMLS:C0277873 Widening of the nostrils upon inhalation as a manifestation of respiratory distress. HP:0003239 Phosphoethanolaminuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003239 SNOMEDCT_US:55236002|MSH:C562646|UMLS:C0268412 High urine phosphoethanolamine levels An increased concentration of phosphoethanolamine in the urine. HP:0005897 Severe generalized osteoporosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005897 UMLS:C1859443 Severe generalised osteoporosis|Severe, generalized osteoporosis Severe degree of osteoporosis. HP:0003238 Hyperpepsinogenemia I biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003238 UMLS:C4025638 HP:0030864 Intercostal retractions biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030864 UMLS:C0425470|SNOMEDCT_US:6442005 Chest retractions A pulling inward of the soft tissues between the ribs upon inhalation. This is a sign of increased use of the chest muscles for breathing and is a manifestation of respiratory distress. HP:0030865 Large elbow biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030865 UMLS:C4280737 Prominent elbow Abnormal increased size of the elbow joint. HP:0004568 Beaking of vertebral bodies biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0004568 UMLS:C0264112|SNOMEDCT_US:19888007|UMLS:C1856599 Vertebral tongue-like protrusion|Anterior beaking of vertebral bodies|Anterior beaking of vertebrae|anterior beaking|Beaked vertebral bodies Anterior tongue-like protrusions of the vertebral bodies. HP:0003237 Increased circulating IgG level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003237 UMLS:C1858977 Increased total IgG in blood|Increased levels of IgG|Increased IgG level An abnormally increased level of immunoglobulin G in blood. HP:0005891 Progressive forearm bowing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005891 UMLS:C3152020 Progressive forearm curvature Progressive bending or abnormal curvature of the forearm skeleton. HP:0005892 Proximal tibial and fibular fusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005892 UMLS:C4025113 Fusion of innermost shinbone and calf bone HP:0005894 Double first metacarpals biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005894 UMLS:C4025112 Double 1st long bones of hand Duplication of the metacarpal I bones. HP:0004563 Increased spinal bone density biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004563 UMLS:C4020828|UMLS:C4280515|UMLS:C4280254|UMLS:C4280514|UMLS:C4280513 Ivory spinal bone|Dense spinal bone|Sclerosis of spinal bone|Increased density of spinal bone|Compact spinal bone|Eburnation of spinal bone|increased spinal bone density Z|Concrete spinal bone Increased bone density affecting the bones of the spine (vertebral column). HP:0003232 Mitochondrial malic enzyme reduced biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003232 UMLS:C1856697 Decreased mitochondrial malic enzyme HP:0004562 Beaking of vertebral bodies T12-L3 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004562 UMLS:C1854941 HP:0003231 Hypertyrosinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003231 SNOMEDCT_US:56595005|UMLS:C1879362 Tyrosinemia|Increased tyrosine in blood An increased concentration of tyrosine in the blood. HP:0005890 Hyperostosis cranialis interna biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005890 UMLS:C4280469|UMLS:C4280472|UMLS:C1840404|UMLS:C4280468|UMLS:C4280471|MSH:C564168|UMLS:C4280470 Increased ossification of the internal surface of the cranial bones|Overgrowth of the inner surface of the skull bones|Overgrowth of the inside of the skull|Hyperostosis of the internal surface of the cranial bone|Hyperostosis of the internal surface of the cranial bones|Enlargement of the inner surface of the skull bones|Excessive growth of inner surface of the skull bones|Thick internal surface of the cranial bones|Thick inner surface of the skull bones|Hypertrophy of the internal surface of the cranial bones Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull. HP:0030870 Abnormality of spinal facet joint biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030870 UMLS:C4280735 Abnormality of apophyseal joint|Abnormality of zygapophyseal joint|Abnormality of zygapophysial joint|Abnormality of Z-joint An anomaly of the small joints located between and behind adjacent vertebrae. HP:0030871 Facet joint arthrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030871 UMLS:C4280734 Facet arthritis Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray. HP:0003209 Decreased pyruvate carboxylase activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003209 UMLS:C4025641 A decreased rate of pyruvate carboxylase activity. HP:0003208 Fingerprint intracellular accumulation of autofluorescent lipopigment storage material biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003208 UMLS:C1836851 'Fingerprint profiles' ultrastructurally in cells|Fingerprint profiles ultrastructurally An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern. HP:0030872 Abnormal cardiac ventricular function biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030872 UMLS:C4280733 An abnormality of the cardiac ventricular function. HP:0005866 Opposable triphalangeal thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005866 UMLS:C4025122 A form of triphalangeal thumb that can be placed opposite the fingers of the same hand. HP:0003203 Impaired oxidative burst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003203 UMLS:C4280805 Negative nitroblue tetrazolium reduction test|Negative NBT reduction test In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria. HP:0030877 Reduced FEV1/FVC ratio biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030877 UMLS:C4280729 Obstructive deficit on pulmonary function test|Obstructive deficit on pulmonary function testing Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity). HP:0003202 Skeletal muscle atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003202 UMLS:C0270948|SNOMEDCT_US:74035001|UMLS:C0234958|UMLS:C1843479|UMLS:C0541794|MSH:D009133 Neurogenic muscle atrophy, especially in the lower limbs|Amyotrophy involving the extremities|Muscle wasting|Muscle hypotrophy|Neurogenic muscle atrophy|Amyotrophy|Muscle degeneration|Muscle atrophy|Neurogenic muscular atrophy|Muscular atrophy|Muscle atrophy, neurogenic The presence of skeletal muscular atrophy (which is also known as amyotrophy). HP:0030878 Abnormality on pulmonary function testing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030878 UMLS:C4280728 Abnormal spirometry test|Abnormal pulmonary function test Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography. HP:0005867 Fused fourth and fifth metacarpals biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005867 UMLS:C1859768 Fused 4th-5th long bones of hand|Fused 4th-5th metacarpals HP:0005868 Metaphyseal enchondromatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005868 UMLS:C4025121 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. HP:0030879 Interlobular septal thickening on pulmonary HRCT biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030879 UMLS:C4280727 Presence of thickening of the interlobular septa of the lungs as seen on a CT scan. HP:0004532 Sacral hypertrichosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004532 UMLS:C4025313 Excessive, increased hair growth located in the sacral region. HP:0003201 Rhabdomyolysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003201 UMLS:C0035410|SNOMEDCT_US:89010004|MSH:D012206|SNOMEDCT_US:240131006 Breakdown of skeletal muscle Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream. HP:0003200 Ragged-red muscle fibers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003200 UMLS:C3275417 Ragged-red muscle fibres|Mitochondrial proliferation in muscle tissue|Ragged red muscle fibers|Ragged-red fibers An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm. HP:0003207 Arterial calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003207 UMLS:C1168153 Pathological deposition of calcium salts in one or more arteries. HP:0030873 Anti-centromere antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030873 UMLS:C4280732 Anti-centromere antibody positivity|Anticentromere antibody positivity|ACA positivity The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components. HP:0030874 Oxygen desaturation on exertion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030874 UMLS:C4280731 O2 desaturation on exertion Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa. HP:0003206 Decreased activity of NADPH oxidase biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003206 UMLS:C1844394 HP:0005863 Type E brachydactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005863 UMLS:C1862102|MSH:C566194 In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals. HP:0005864 Pseudoarthrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005864 UMLS:C0033785|MSH:D011542|SNOMEDCT_US:410818009|SNOMEDCT_US:31511007 Pseudoarthroses A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or "false joint"). HP:0030875 Abnormality of pulmonary circulation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030875 UMLS:C4280730 Abnormality of respiratory circulation|Abnormal 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. HP:0003205 Curvilinear intracellular accumulation of autofluorescent lipopigment storage material biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003205 UMLS:C1836852 'curvilinear profiles' ultrastructurally|Curvilinear profiles ultrastructurally|'Curvilinear profiles' ultrastructurally in cells|Intracellular curvilinear profiles on ultrastructural analysis An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern. HP:0030876 Increased pulmonary capillary wedge pressure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030876 UMLS:C0520850|SNOMEDCT_US:30261008 Increased pulmonary arterial wedge pressure|Increased pulmonary artery occlusion pressure Pulmonary capillary wedge pressure (PCWP) above 15mmHg. HP:0003204 Intracellular accumulation of autofluorescent lipopigment storage material biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003204 UMLS:C4025642 The intracellular accumulation of autofluorescent storage material. HP:0004535 Anterior cervical hypertrichosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004535 MSH:C538390|UMLS:C1838123 Congenital cervical hypertrichosis|Hypertrichosis, congenital anterior cervical Anterior cervical hypertrichosis (ACH) or 'hairy throat' refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence. HP:0040203 Abnormal CSF neopterin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040203 UMLS:C4073151 Abnormal concentration of neopterin in the cerebrospinal fluid (CSF). HP:0040204 Elevated CSF neopterin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040204 UMLS:C4073152 Increased concentration of neopterin in the cerebrospinal fluid (CSF). HP:0040201 Simultanapraxia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040201 UMLS:C4073149 A subset of motor impersistence, defined as the inability to perform more than two of the simple voluntary acts simultaneously, such as closing the eyes and protruding the tongue. HP:0040202 Abnormal consumption behavior biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040202 UMLS:C4073150 Abnormal consumption behaviour HP:0040207 Abnormal CSF biopterin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040207 UMLS:C4073155 Abnormal cerebrospinal fluid biopterin level Abnormal concentration of biopterin in the cerebrospinal fluid (CSF). HP:0040208 Elevated CSF biopterin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040208 UMLS:C4073156 Increased concentration of biopterin in the cerebrospinal fluid (CSF). HP:0040205 Decreased CSF neopterin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040205 UMLS:C4073153 Decreased concentration of neopterin in the cerebrospinal fluid (CSF). HP:0040206 Abnormal circulating neopterin concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040206 UMLS:C4073154 Any deviation from the normal concentration of neopterin in the blood circulation. HP:0030880 Raynaud phenomenon biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030880 UMLS:C0034735|MSH:D011928|SNOMEDCT_US:266261006 Raynaud's phenomenon|Raynaud disease HP:0030881 Shoulder impingement biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030881 UMLS:C1655733 Trapping and compression of the rotator cuff tendons during shoulder movements. HP:0030882 Coronary artery aneurysm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030882 Fyler:3129|UMLS:C4255100 Coronary artery ectasia|Coronary arterial dilatation|Coronary artery dilatation Enlargement of the diameter (cross-section) of a coronary artery as defined by a focal dilation of a segment at least 1.5 times larger than the reference vessel. HP:0040209 Decreased CSF biopterin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040209 UMLS:C4073157 Low CSF BH4 (tetrahydrobiopterin) Decreased concentration of biopterin in the cerebrospinal fluid (CSF). HP:0030883 Femoroacetabular impingement biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030883 SNOMEDCT_US:432473000|UMLS:C2936290|MSH:D057925 Femoral acetabular impingement Femoroacetabular impingement (FAI) results from one or more bony abnormalities that lead to abnormal contact between the acetabulum and the femoral head or neck. The femoral abnormality is proposed to cause compression and shear stresses in the region between the labrum and cartilage, anterosuperiorly. These stresses cause a separation between the labrum and cartilage as the labrum is pushed outwards and the cartilage is pushed centrally. This eventually leads to articular degeneration and eventually global hip osteoarthritis. HP:0003219 Ethylmalonic aciduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003219 UMLS:C1865353 An increased concentration of ethylmalonic acid in the urine. HP:0003214 Prolonged G2 phase of cell cycle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003214 UMLS:C4025639 HP:0030888 C3 nephritic factor positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030888 The presence of autoantibodies (immunoglobulins) in the serum that react against C3 convertase (C3bBb). HP:0005877 Multiple small vertebral fractures biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005877 UMLS:C4025119 HP:0005878 Enlarged sagittal diameter of the cervical canal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005878 UMLS:C4025118 HP:0030889 Congenital shortened small intestine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030889 Short bowel Substantially shortened length of the small intestine as a result of a developmental defect. HP:0003213 Deficient excision of UV-induced pyrimidine dimers in DNA biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003213 UMLS:C4025640 HP:0004544 obsolete Pointed frontal hairline biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004544 HP:0005879 Congenital finger flexion contractures biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005879 UMLS:C1393871 Congenital finger contractures Multiple bent (flexed) finger joints that cannot be straightened actively or passively. HP:0003212 Increased circulating IgE level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003212 UMLS:C0236175 Elevated serum IgE|Elevated immunoglobulin E|High immunoglobulin E An abnormally increased overall level of immunoglobulin E in blood. HP:0005873 Polysyndactyly of hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005873 UMLS:C4021618 Polysyndactyly of great toe|Polysyndactyly of big toe Combined syndactyly and polydactyly of the great toe. HP:0030884 Gastrojejunal tube feeding in infancy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030884 UMLS:C4280681 Gastro-jejunal tube feeding in infancy Feeding problem necessitating gastrojejunal tube feeding. HP:0003218 Oroticaciduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003218 UMLS:C0268128|SNOMEDCT_US:47641009|SNOMEDCT_US:124277009 High urine orotic acid levels|Increased urinary orotic acid concentration|Orotic aciduria An increased concentration of orotic acid in the urine. HP:0030885 Recurrent parasitic infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030885 UMLS:C4280726 Increased susceptibility to parasitic infections, as manifested by recurrent episodes of parasitic infection. HP:0003217 Hyperglutaminemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003217 UMLS:C1839533 High plasma glutamine An increased concentration of glutamine in the blood. HP:0005875 Increased dermatoglyphic whorls biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005875 UMLS:C4025120 HP:0003216 Generalized amyloid deposition biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003216 UMLS:C1862968 Generalised amyloid deposition A diffuse form of amyloidosis. HP:0030886 Abnormal lymphocyte apoptosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030886 UMLS:C4280725 A anomaly in the rate of programmed cell death (apoptosis) in lymphocytes. HP:0030887 Increased lymphocyte apoptosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030887 UMLS:C4280724 A elevation in the rate of apoptosis in lymphocytes. HP:0005876 Progressive flexion contractures biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005876 UMLS:C3279322 Joint contractures, progressive Progressively worsening joint contractures. HP:0003215 Dicarboxylic aciduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003215 UMLS:C1856432 An increased concentration of dicarboxylic acid in the urine. HP:0005871 Metaphyseal chondrodysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005871 UMLS:C0265290|SNOMEDCT_US:28681006 An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae. HP:0005872 Brachytelomesophalangy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005872 UMLS:C1847408 Short middle and distal phalanges of digits ii through v|Progressive brachydactyly of middle and distal phalanges Disproportionately short middle and distal phalanges compared to the hand/foot. HP:0003210 Decreased methylmalonyl-CoA mutase activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003210 UMLS:C1848579 Decreased methylmalonyl CoA mutase activity An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity. HP:0004540 Congenital, generalized hypertrichosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004540 UMLS:C1855900|MSH:C538388 Hypertrichosis universalis|Congenital generalized hypertrichosis|Congenital, generalised hypertrichosis A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth. HP:0040200 Motor impersistence biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040200 UMLS:C4073148 Negative chorea The inability to maintain postures or positions (such as keeping eyes closed, protruding the tongue, maintaining conjugate gaze steadily in a fixed direction, or making a prolonged 'ah' sound) without repeated prompts. HP:0030811 Tongue pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030811 SNOMEDCT_US:30731004|MSH:D005926|UMLS:C0017672 Painful tongue An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the tongue. HP:0003269 Sudanophilic leukodystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003269 UMLS:C0205711|SNOMEDCT_US:64855000|MSH:D020371 HP:0004599 Absent or minimally ossified vertebral bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004599 UMLS:C1832983 HP:0003268 Argininuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003268 UMLS:C4025635 High urine arginine levels A increased concentration of arginine in the urine. HP:0030812 Enlarged tonsils biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030812 UMLS:C0272386|SNOMEDCT_US:46689006 tonsils large/hypertrophy|Enlargment of tonsils|Tonsillar hypertrophy 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. HP:0030813 Absent tonsils biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030813 SNOMEDCT_US:300277007|UMLS:C0576999|SNOMEDCT_US:249393008 Tonsillar hypoplasia|Hypoplastic tonsils Lack of observable tonsillar tissue. HP:0004598 Supernumerary vertebral ossification centers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004598 UMLS:C4025309 Supernumerary vertebral ossification centres Three ossification sites are present in typical vertebral bodies (C3-L5): a single ossification center in the vertebral body, and one each in the two neural arches. This term applies if there are additional vertebral ossification centers present during the development and maturation of the spine. HP:0003267 Reduced orotidine 5-prime phosphate decarboxylase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003267 UMLS:C4020845|UMLS:C4025636 Orotidine-5-prime-phosphate decarboxylase defect An abnormal decrease in orotidine 5'-phosphate decarboxylase level. HP:0030814 Orange discolored tonsils biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030814 UMLS:C4280753 Orange coloured tonsils|Tonsils with orange deposits|Orange colored tonsils|Orange discoloured tonsils|Orange tonsils A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903. HP:0030810 Abnormal tongue physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030810 UMLS:C4280754 Any functional anomaly of the tongue. HP:0030819 Ski jump nail biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030819 UMLS:C4280751 Upslanting nail|Upward angulation of nail Nails that slope upward at the free edge. HP:0003261 Increased circulating IgA level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003261 UMLS:C0239984 IgA hypergammaglobulinemia|Elevated IgA|Elevated serum IgA|Increased serum IgA|Increased levels of IgA An abnormally increased level of immunoglobulin A in blood. HP:0004592 Thoracic platyspondyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004592 UMLS:C1862428 A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the thoracic spine. HP:0003260 Hydroxyprolinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003260 MSH:C562669|UMLS:C0268531|SNOMEDCT_US:25739007 High blood hydroxyproline levels An increased concentration of hydroxyproline in the blood. HP:0004591 Disc-like vertebral bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004591 UMLS:C1835444 HP:0004590 Hypoplastic sacrum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004590 UMLS:C1970816 Small sacrum HP:0003265 Neonatal hyperbilirubinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003265 MSH:D051556|UMLS:C0857007|SNOMEDCT_US:281610001 High blood bilirubin levels in neonate|Hyperbilirubinemia, neonatal A type of hyperbilirubinemia with neonatal onset. HP:0030815 Lipoma of the tongue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030815 UMLS:C0238467 Tongue lipoma A lipoma localized to the tongue. May present as a nontender, soft, spherical mass of the tongue. HP:0003264 Deficiency of N-acetylglucosamine-1-phosphotransferase biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003264 UMLS:C0020725|MSH:D009081|SNOMEDCT_US:70199000 HP:0030816 Gingival recession biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030816 MSH:D005889|SNOMEDCT_US:4356008|UMLS:C0017572 Gum recession|Receding gums The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth. HP:0004594 Hump-shaped mound of bone in central and posterior portions of vertebral endplate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004594 UMLS:C1839252 HP:0030817 Beaked nails biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030817 UMLS:C4280752 Severe nail curvature, causing the tip of the nail to point downwards with respect to the axis of the finger. Beaked nails are caused by resorption of the distal digit. HP:0030818 Central nail canal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030818 SNOMEDCT_US:238718006|SNOMEDCT_US:86393005|UMLS:C0263526 Median nail dystrophy The presense of a depressed line ("canal") in the center of the nail. HP:0003262 Smooth muscle antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003262 UMLS:C0241185|SNOMEDCT_US:310290006 Smooth muscle antibody positive|Anti-smooth muscle antibody positivity The presence in serum of antibodies against smooth muscle. HP:0030822 Hooded upper eyelid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030822 UMLS:C4280749 Upper eyelid partly covered by skin when eyes are open. HP:0030823 Scleral thickening biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030823 UMLS:C2674403 Thick sclera Increased dimension of the sclera in the anterior-posterior axis. HP:0003279 Coxa magna biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003279 MSH:D000070603|UMLS:C1860826|SNOMEDCT_US:296041000119103 Widening of the femoral head and neck. HP:0030824 Mizuo phenomenon biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030824 UMLS:C4280748 Mizuo-Nakamura phenomenon Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14]. HP:0003278 Square pelvis bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003278 UMLS:C1849953 Squared off pelvis|Square pelvis|Square pelvis bone An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure. HP:0030825 Absent foveal reflex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030825 UMLS:C0423420|SNOMEDCT_US:247144003 Loss of foveal reflex|Foveal reflex absent Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope. HP:0003277 Constricted iliac wings biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003277 UMLS:C1854785 HP:0030820 Hooded eyelid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030820 UMLS:C3277348 Eyelid partly covered by skin when eyes are open. HP:0030821 Hooded lower eyelid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030821 UMLS:C4280750 Lower eyelid partly covered by skin when eyes are open. HP:0003272 Abnormality of the hip bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003272 UMLS:C4021735 Abnormality of the hip bone|Abnormality of the hips An abnormality of the hip bone. HP:0003271 Visceromegaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003271 SNOMEDCT_US:28543008|UMLS:C0042782 Abnormal increased size of the viscera of the abdomen. HP:0003270 Abdominal distention biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003270 SNOMEDCT_US:60728008|SNOMEDCT_US:41931001|UMLS:C0000731 Bloating|Abdominal bloating|Abdominal distension|Belly bloating|Distended abdomen|Abdominal swelling Distention of the abdomen. HP:0030826 Eyelid fasciculation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030826 UMLS:C4280682 Muscle twitches in eyelid|Eyelid fluttering|Muscle twitches in eye lid|Fasciculation of the eyelid|Twitching around eyes Tiny, repetitive muscle contractions in the eyelids, causing the appearance of twitching. HP:0003276 Pelvic bone exostoses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003276 UMLS:C1844689 Pelvic 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. HP:0003275 Narrow pelvis bone biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003275 UMLS:C1848103 Narrow pelvis bone|Narrow pelvis Reduced side to side width of the pelvis. HP:0030828 Wheezing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030828 MSH:D012135|UMLS:C0043144|SNOMEDCT_US:56018004 Wheezing A high-pitched whistling sound associated with labored breathing. HP:0003274 Hypoplastic acetabulae biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003274 UMLS:C1846442 Acetabular hypoplasia|Hypoplastic acetabula Underdeveloped acetabulae. HP:0030829 Abnormal breath sound biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030829 SNOMEDCT_US:301273002|UMLS:C0231856 An anomalous (adventitious) sound produced by the breathing process. HP:0003273 Hip contracture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003273 UMLS:C0409354|SNOMEDCT_US:202283002 Hip flexion contractures|Flexion contractures of hips|Flexion contracture of hips|Hip contractures HP:0100501 Recurrent bronchiolitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100501 UMLS:C4015136 An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis. HP:0100502 Vitamin B12 deficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100502 SNOMEDCT_US:190634004|MSH:D014806|UMLS:C0042847 Vitamin B12 deficiency HP:0100500 Fibular deviation of toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100500 UMLS:C4020970 Lateral deviation of toes HP:0030833 Neck pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030833 SNOMEDCT_US:81680005|UMLS:C0007859|MSH:D019547 Neck pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck. HP:0003247 Overgrowth of external genitalia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003247 UMLS:C1851722 Overgrowth of external genitalia HP:0030834 Shoulder pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030834 MSH:D020069|SNOMEDCT_US:45326000|UMLS:C0037011 Shoulder pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder. HP:0003246 Prominent scrotal raphe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003246 UMLS:C1852407 Prominent perineal raphe Increased size of the ridge of tissue that extends along the midline of the scrotum. HP:0030835 Elbow pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030835 SNOMEDCT_US:74323005|UMLS:C0239266 Elbow pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the elbow. HP:0004576 Sclerotic vertebral endplates biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004576 UMLS:C1859698 Endplate sclerosis Sclerosis (increased density) affecting vertebral end plates. HP:0003244 Penile hypospadias biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003244 SNOMEDCT_US:204888000|UMLS:C1691215 Location of the urethral opening on the inferior aspect of the penis. HP:0030836 Wrist pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030836 UMLS:C0221785|SNOMEDCT_US:202482009|SNOMEDCT_US:56608008 Wrist pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist. HP:0004575 Fusion of midcervical facet joints biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004575 UMLS:C1847394 HP:0030830 Crackles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030830 MSH:D012135|SNOMEDCT_US:48409008|UMLS:C0034642 Rales|Crepitations Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position. HP:0030831 Rhonchi biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030831 MSH:D012135|SNOMEDCT_US:24612001|UMLS:C0035508 Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds. HP:0003249 Genital ulcers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003249 UMLS:C0151281 Genital ulcers HP:0030832 Vitreous strands biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030832 UMLS:C0271408|SNOMEDCT_US:28167005 Fiber- or rope-like opacities located within the vitreous humor. HP:0003248 Gonadal tissue inappropriate for external genitalia or chromosomal sex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003248 UMLS:C1860268 HP:0100509 Abnormality of vitamin C metabolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100509 UMLS:C4021863 Abnormality of vitamin C metabolism HP:0004570 Increased vertebral height biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004570 UMLS:C1864853 Tall vertebral bodies Increased top to bottom height of vertebral bodies. HP:0100507 Reduced blood folate concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100507 SNOMEDCT_US:190633005|UMLS:C0016412|MSH:D005494 Vitamin B9 deficiency|Folate deficiency A reduced circulating concentration of folic acid, which is also known as vitamin B9. HP:0100508 Abnormality of vitamin metabolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100508 UMLS:C4022036 Abnormality of vitamin metabolism An anomaly in the metabolism of a vitamin. HP:0030837 Finger pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030837 UMLS:C0239589|SNOMEDCT_US:18876004 Finger pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the finger. HP:0100505 Low levels of vitamin B5 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100505 UMLS:C4022038 Vitamin B5 deficiency A reduced concentration of vitamin B5. HP:0004573 Anterior wedging of T11 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004573 UMLS:C4021652 Anterior wedging of the 11th thoracic vertebra|Wedge-shaped 11th thoracic vertebra An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front). HP:0100506 Low levels of vitamin B8 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100506 UMLS:C4022037 Vitamin B8 deficiency A reduced concentration of vitamin B8. HP:0030838 Hip pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030838 UMLS:C0019559|SNOMEDCT_US:49218002 Hip pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip. HP:0100503 Low levels of vitamin B1 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100503 UMLS:C0039841|SNOMEDCT_US:399357009|MSH:D013832 Reduced blood thiamine level|Vitamin B1 deficiency A reduced concentration of vitamin B1. HP:0003241 External genital hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003241 UMLS:C1855333 Underdevelopment of external reproductive organs|Hypogenitalism|Small genitalia Underdevelopment of part or all of the external reproductive organs. HP:0030839 Knee pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030839 UMLS:C0231749|SNOMEDCT_US:30989003 Pain under knee cap|Knee pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee. HP:0100504 Low levels of vitamin B2 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100504 MSH:D012257|SNOMEDCT_US:20307000|UMLS:C0035528 Riboflavin deficiency|Vitamin B2 deficiency A reduced concentration of vitamin B2. HP:0004571 Widening of cervical spinal canal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004571 UMLS:C3807591 HP:0003240 Increased phosphoribosylpyrophosphate synthetase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003240 UMLS:C4025637 Increased PRPS1 activity|Increased phosphoribosyl pyrophosphate synthetase activity Abnormally elevated level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate. HP:0100512 Low levels of vitamin D biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100512 MSH:D014808|SNOMEDCT_US:34713006|UMLS:C0042870 Vitamin D deficiency|Deficient in vitamin D A reduced concentration of Vitamin D. HP:0100513 Low levels of vitamin E biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100513 MSH:D014811|UMLS:C0042875|SNOMEDCT_US:54137008 Alpha-tocopherol deficiency|Vitamin E deficiency A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol. HP:0100510 Low levels of vitamin C biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100510 MSH:D001206|SNOMEDCT_US:76169001|UMLS:C0003969 Vitamin C deficiency A reduced concentration of Vitamin C. HP:0100511 Abnormality of vitamin D metabolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100511 UMLS:C4022035 Abnormality of vitamin D metabolism HP:0003258 Glyoxalase deficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003258 UMLS:C3279658 HP:0004589 Dysplasia of second lumbar vertebra biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004589 UMLS:C4025310 HP:0030844 Undetectable pattern electroretinogram biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030844 UMLS:C4280746 Absent response to a pattern electroretinogram (PERG). HP:0030845 Heliotrope rash of eyelid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030845 UMLS:C4280745 Heliotrope rash is a violaceous discoloration of the eyelids associated with periorbital edema. HP:0003256 Abnormality of the coagulation cascade biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003256 MSH:D001778|SNOMEDCT_US:64779008|SNOMEDCT_US:362970003|UMLS:C0005779 Coagulopathy 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. HP:0030846 Abnormality of venous physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030846 UMLS:C4280744 An anomaly of venous function. HP:0004586 Biconcave vertebral bodies biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0004586 UMLS:C1856087 Biconcave 'codfish' vertebrae|Scalloping of vertebral bodies|Fish vertebrae|Biconcave vertebrae|Codfish vertebrae Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward. HP:0030847 Abnormal jugular venous pressure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030847 UMLS:C0520860|SNOMEDCT_US:62436006 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. HP:0030840 Ankle pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030840 UMLS:C0238656|SNOMEDCT_US:247373008|SNOMEDCT_US:202490009 Ankle pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle. HP:0030841 Toe pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030841 SNOMEDCT_US:285365001|UMLS:C0241416 Toe pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the toe. HP:0030842 Choking episodes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030842 UMLS:C4280747 Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing. HP:0030843 Cardiac amyloidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030843 SNOMEDCT_US:16573007|UMLS:C0268407 Amyloid cardiomyopathy Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding. HP:0003259 Elevated serum creatinine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003259 UMLS:C0700225|SNOMEDCT_US:166717003 High blood creatinine level|Elevated creatinine|Increased serum creatinine|Increased creatinine An increased amount of creatinine in the blood. HP:0003250 Aplasia of the vagina biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003250 UMLS:C1841990|UMLS:C0220763|UMLS:C1321884|SNOMEDCT_US:87380008|SNOMEDCT_US:248871003|MSH:C536523 Congenital absence of the vagina|Absent vagina Aplasia of the vagina. HP:0004581 Increased anterior vertebral height biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004581 UMLS:C1866732 HP:0004580 Anterior scalloping of vertebral bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004580 UMLS:C2673652 Anterior scalloping vertebral bodies An excessive concavity of the anterior surface of one or more vertebral bodies. HP:0100518 Dysuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100518 MSH:D053159|SNOMEDCT_US:49650001|UMLS:C0013428 Dull burning sensation with urination|Painful or difficult urination Painful or difficult urination. HP:0100519 Anuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100519 SNOMEDCT_US:2472002|UMLS:C0003460|MSH:D001002 Absent urine output Absence of urine, clinically classified as below 50ml/day. HP:0030848 Elevated jugular venous pressure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030848 SNOMEDCT_US:22447003|UMLS:C0520861 Increased jugular venous pressure. HP:0100516 Neoplasm of the ureter biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100516 SNOMEDCT_US:126882009|UMLS:C0041955|NCIT:C3262|SNOMEDCT_US:363458004|UMLS:C0153619|MSH:D014516 Neoplasia of the ureters|ureter, cancer of The presence of a neoplasm of the ureter. HP:0003254 Abnormality of DNA repair biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003254 UMLS:C4021848 An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage. HP:0100517 Neoplasm of the urethra biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100517 MSH:D014523|UMLS:C0041971|NCIT:C2974|SNOMEDCT_US:126883004 Neoplasia of the urethra The presence of a neoplasm of the urethra. HP:0030849 Hepatojugular reflux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030849 SNOMEDCT_US:72196001|UMLS:C0239949 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. HP:0100514 Abnormality of vitamin E metabolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100514 UMLS:C4022034 Abnormality of vitamin E metabolism HP:0003252 Anteriorly displaced genitalia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003252 UMLS:C1848653 HP:0004582 Irregularity of vertebral bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004582 UMLS:C4025311 HP:0100515 Pollakisuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100515 SNOMEDCT_US:300471006|SNOMEDCT_US:162116003|UMLS:C0042023 Frequent urination|Constant urination Increased frequency of urination. HP:0003251 Male infertility biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003251 MSH:D007248|SNOMEDCT_US:2904007|UMLS:C0021364 Male infertility HP:0005807 Absent distal phalanges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005807 UMLS:C1861339 Absent outermost digital bones Aplasia (absence) of the distal phalanges. HP:0005802 Coalescence of tarsal bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005802 UMLS:C4025130 HP:0005819 Short middle phalanx of finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005819 UMLS:C1846950 Hypoplasia of the middle phalanges of the hand|Shortened middle finger bones|Short middle bone of finger|Disproportionately short middle phalanges|Short middle phalanges|Hypoplastic middle phalanges|Midphalangeal hypoplasia|Brachymesophalangy|Hypoplastic middle phalanx Short (hypoplastic) middle phalanx of finger, affecting one or more fingers. HP:0005815 Supernumerary ribs biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0005815 UMLS:C0345397|SNOMEDCT_US:205460009 Extra ribs The presence of more than 12 rib pairs. HP:0005817 Postaxial polysyndactyly of foot biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005817 UMLS:C4021824 Combined syndactyly and polydactyly of the foot on the lateral side (i.e., on the side of the little toe). HP:0030800 Abnormal visual accommodation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030800 UMLS:C4280760 An anomaly in the process of visual accommodation, which is the process of adjustment of the eye to enable sharp vision of objects at different distances. Accommodation is mediated by contraction of the ciliary muscles, which alter the convexity of the lens and, consequently, its refractive power. HP:0030801 Reduced visual accommodation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030801 UMLS:C4280759 A decreased ability of the eye to adjust and thereby enable sharp vision of objects at different distances. HP:0030802 Lower eyelid retraction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030802 SNOMEDCT_US:700264006|UMLS:C1861656 Inferior malposition of the lower eyelid margin without eyelid eversion. HP:0030803 Platonychia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030803 UMLS:C1853986 Abnormal flat nail. HP:0030808 Ragged cuticle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030808 UMLS:C4280756 The cuticle (properly known as the eponychium, or the medial nail fold or the proximal nail fold), is the thickened layer of skin surrounding fingernails and toenails. Its function is to protect the area between the nail and epidermis from exposure to bacteria. This term refers to the presence of and irregular edge or outline of the cuticle. HP:0030809 Abnormal tongue morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030809 UMLS:C4280755 Any structural anomaly of the tongue. HP:0030804 Trachyonychia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030804 SNOMEDCT_US:69192004|UMLS:C0546956 Excessive longitudinal ridging that gives the surface of the nail plate a rough appearance. It results from multiple foci of defective keratinization of the proximal nail matrix. HP:0030805 Absent lunula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030805 UMLS:C4280758 Lunulae absent|Absent lunulae|Lunula absent Lack of the lunula at the base of a nail. The lunula is the crescent-shaped whitish area of the bed of a fingernail or toenail. HP:0030806 Fast-growing nails biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030806 UMLS:C4280757 Nails whose growth is quicker than normal. HP:0030807 Abnormal nail growth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030807 UMLS:C1610609 Nail whose growth pattern or speed deviates from normal. HP:0005848 obsolete Bifid thumb distal phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005848 HP:0005849 Diffuse cerebral calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005849 UMLS:C4025125 Generalized deposition of calcium salts within the brain. HP:0005844 Rounded middle phalanx of finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005844 UMLS:C4025126 Rounded middle bone of finger An abnormally round shape of the middle phalanx of the finger. HP:0004510 Pancreatic islet-cell hyperplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004510 UMLS:C0597167 Islet of Langerhans hyperplasia|Islets of langerhans hypertrophy|Hyperplastic islets of langerhans|Pancreatic islet-cell hypertrophy|Hypertrophic pancreatic islets Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. HP:0005841 Calcific stippling of infantile cartilaginous skeleton biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005841 UMLS:C1859135 HP:0004529 Atrophic, patchy alopecia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004529 UMLS:C4025314 HP:0004528 Generalized hypotrichosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004528 UMLS:C4021653 Generalised hypotrichosis|Hypotrichosis, generalized Reduced or lacking hair growth in a generalized distribution. HP:0004523 Long eyebrows biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004523 UMLS:C3280131 Increased transverse length of eyebrow|Increased horizontal length of eyebrow|Long eyebrows|Elongated eyebrow Increased length of the hairs of the eyebrows. HP:0005855 Multiple prenatal fractures biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005855 UMLS:C1853171 Congenital bone fractures|Numerous multiple fractures that are present at birth|Multiple fractures present at birth|Numerous multiple fractures present at birth|Multiple fractures, present at birth The presence of bone fractures in the prenatal period that are diagnosed at birth or before. HP:0005856 Ulnar radial head dislocation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005856 UMLS:C4021619 Ulnar dislocation of radial heads A dislocation of the head of the radius from its socket in the elbow joint in an ulnar direction. HP:0005857 Cervical spina bifida biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005857 UMLS:C0266501|SNOMEDCT_US:32232003 HP:0004527 Large clumps of pigment irregularly distributed along hair shaft biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004527 UMLS:C4025315 Large clumps of pigment irregularly distributed along hair shaft HP:0005852 Limited elbow extension and supination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005852 UMLS:C4025124 HP:0005853 Congenital foot contraction deformities biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005853 UMLS:C4025123 HP:0004524 Temporal hypotrichosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004524 UMLS:C4025316 Reduced hair growth in temporal region Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull). HP:0005850 Congenital talipes calcaneovalgus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005850 MSH:D005413|SNOMEDCT_US:205083002|UMLS:C0152237|SNOMEDCT_US:31668003 HP:0005828 Transient pulmonary infiltrates biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005828 UMLS:C3805920 HP:0005829 Maldevelopment of radioulnar joint biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005829 UMLS:C3149879 HP:0005824 Clinodactyly of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005824 UMLS:C4021620|UMLS:C4280473 Clinodactyly of second toes|Curvature of 2nd toe Bending or curvature of a second toe in the tibial direction (i.e., towards the big toe). HP:0005825 Mixed sclerosis of humeral metaphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005825 UMLS:C4025128 HP:0005820 Superior rib anomalies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005820 UMLS:C4025129 HP:0005837 obsolete Joint dislocations in young adult biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005837 HP:0005833 obsolete Joint swelling onset late infancy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005833 HP:0005834 obsolete Thumbs hypo/aplastic biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005834 HP:0005830 Flexion contracture of toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005830 UMLS:C1406835 Toe contractures|Contractures of the toes|Contractures involving the toes One or more bent (flexed) toe joints that cannot be straightened actively or passively. HP:0005831 Type B brachydactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005831 MSH:C566196|UMLS:C1862112 HP:0005832 Dysharmonic delayed bone age biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005832 UMLS:C1859444 A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones. HP:0004502 Bilateral choanal atresia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004502 UMLS:C4025317 Bilateral blockage of the rear opening of the nasal cavity|Bilateral obstruction of the rear opening of the nasal cavity Bilateral absence (atresia) of the posterior nasal aperture (choana). HP:0100369 Aplasia/Hypoplasia of the distal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100369 UMLS:C4022122 Absent/small outermost 3rd toe bone|Absent/underdeveloped outermost 3rd toe bone HP:0100367 Short phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100367 UMLS:C4021013 Hypoplastic/small phalanges of the 4th toe|Short 4th toe bone|Short phalanx of the fourth toe Developmental hypoplasia of one or more phalanx of fourth toe. HP:0100368 Short phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100368 UMLS:C4021012 Hypoplastic/small phalanges of the 5th toe|Short little toe bone|Short pinkie toe bone|Short pinky toe bone|Short phalanx of the fifth toe Developmental hypoplasia of one or more phalanx of little toe. HP:0100366 Short phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100366 UMLS:C4021014 Short phalanx of the third toe|Short 3rd toe bone|Hypoplastic/small phalanges of the 3rd toe Developmental hypoplasia of the phalanx of third toe. HP:0100363 Aplasia of the phalanges of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100363 UMLS:C4022124 Absent bones of the 4th toe HP:0100364 Aplasia of the phalanges of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100364 UMLS:C4022123 Absent pinkie toe bones|Absent little toe bones|Absent pinky toe bones HP:0100362 Aplasia of the phalanges of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100362 UMLS:C4022125 Absent digital bone of the 3rd toe HP:0100360 Contractures of the joints of the upper limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100360 UMLS:C2750635 HP:0100378 Absent distal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100378 UMLS:C4021011 Absent outermost bone of the 3rd toe|Aplasia of the distal phalanx of the 3rd toe|Absent distal phalanx of the third toe Developmental aplasia of the distal phalanx of third toe. HP:0100379 Aplasia of the distal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100379 UMLS:C4022113 Absent outermost bone of the 4th toe|Absent distal phalanx of the 4th toe HP:0100376 Aplasia/hypoplasia of the proximal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100376 UMLS:C4022115 Absent/small innermost 4th toe bone|Absent/underdeveloped innermost 4th toe bone Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 4th toe. HP:0100377 Aplasia/hypoplasia of the proximal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100377 UMLS:C4022114 Absent/small innermost pinkie toe bone|Absent/small innermost little toe bone|Absent/underdeveloped innermost 5th toe bone|Absent/small innermost pinky toe bone Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 5th toe. HP:0100374 Aplasia/Hypoplasia of the middle phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100374 UMLS:C4022117 Absent/underdeveloped middle bone of pinky toe|Absent/underdeveloped middle bone of pinkie toe|Absent/underdeveloped middle bone of little toe|Absent/small middle 5th toe bone HP:0100375 Aplasia/hypoplasia of the proximal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100375 UMLS:C4022116 Absent/underdeveloped innermost bone of 3rd toe|Absent/small innermost bone of 3rd toe Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 3rd toe. HP:0100372 Aplasia/Hypoplasia of the middle phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100372 UMLS:C4022119 Absent/underdeveloped middle 3rd toe bone|Absent/small middle 3rd toe bone HP:0100373 Aplasia/Hypoplasia of the middle phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100373 UMLS:C4022118 Absent/small middle bone of the 4th toe|Absent/underdeveloped middle bone of the 4th toe HP:0100370 Aplasia/Hypoplasia of the distal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100370 UMLS:C4022121 Absent/underdeveloped outermost bone of 4th toe|Absent/small outermost bone of 4th toe HP:0100371 Aplasia/Hypoplasia of the distal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100371 UMLS:C4022120 Absent/small outermost pinkie toe bone|Absent/underdeveloped outermost pinky toe bone|Absent/small outermost little toe bone|Absent/small outermost pinky toe bone HP:0100389 Short distal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100389 UMLS:C4021008 Hypoplastic/small distal phalanx of the 3rd toe|Short outermost bone of the 3rd toe|Short distal phalanx of the third toe Developmental hypoplasia of the distal phalanx of third toe. HP:0100387 Aplasia of the middle phalanges of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100387 UMLS:C4022107 Absent middle toe bones HP:0100388 Aplasia of the proximal phalanges of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100388 UMLS:C4022106 Absent innermost toe bones HP:0100385 Aplasia of the proximal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100385 UMLS:C4022109 Absent innermost bone of the 4th toe HP:0100386 Aplasia of the proximal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100386 UMLS:C4022108 Absent innermost bone of the pinky toe|Absent innermost bone of the little toe|Absent innermost bone of the pinkie toe HP:0100383 Aplasia of the middle phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100383 UMLS:C4022110 Absent middle bone of little toe|Absent middle bone of pinkie toe|Absent middle bone of pinky toe HP:0100384 Absent proximal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100384 UMLS:C4021009 Aplasia of the proximal phalanx of the 3rd toe|Absent innermost bone of the 3rd toe Absence of proximal phalanx of third toe, owing to a congenital defect of development. HP:0100381 Absent middle phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100381 UMLS:C4021010 Aplasia of the middle phalanx of the 3rd toe|Absent middle bone of the 3rd toe|Absent middle phalanx of the third toe Developmental aplasia of the middle phalanx of third toe. HP:0100382 Aplasia of the middle phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100382 UMLS:C4022111 Absent middle bone of 4th toe HP:0100380 Aplasia of the distal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100380 UMLS:C4022112 Absent outermost bone of the pinky toe|Absent outermost bone of the little toe|Absent outermost bone of the pinkie toe HP:0100398 Duplication of the distal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100398 UMLS:C4020999 Duplication of the distal phalanx of the third toe|Duplication of the outermost bone of the 3rd toe|Partial/complete duplication of the distal phalanx of the 3rd toe Partial or complete duplication of distal phalanx of third toe. HP:0100399 Duplication of the distal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100399 UMLS:C4020998 Partial/complete duplication of the distal phalanx of the 4th toe|Duplication of the distal phalanx of the fourth toe|Duplication of the outermost bone of the 4th toe Partial or complete duplication of the distal phalanx of fourth toe. HP:0100396 Short proximal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100396 UMLS:C4021001 Short proximal phalanx of the fourth toe|Short fourth toe proximal phalanx|Hypoplastic/small proximal phalanx of the 4th toe Developmental hypoplasia of the proximal phalanx of fourth toe. HP:0100397 Short proximal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100397 UMLS:C4021000 Hypoplastic/small proximal phalanx of the 5th toe|Short innermost bone of pinky toe|Short proximal phalanx of the fifth toe|Short innermost bone of little toe|Short innermost bone of pinkie toe Developmental hypoplasia of the proximal phalanx of fifth toe. HP:0100394 Short middle phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100394 UMLS:C4021003 Short middle bone of little toe|Short middle bone of pinkie toe|Short middle phalanx of the fifth toe|Hypoplastic/small middle phalanx of the 5th toe|Short middle bone of pinky toe Developmental hypoplasia of the middle phalanx of the 5th toe. HP:0100395 Short proximal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100395 UMLS:C4021002 Hypoplastic/small proximal phalanx of the 3rd toe|Short proximal phalanx of the third toe Abnormal reduction in length of proximal phalanx of third toe. HP:0100392 Short middle phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100392 UMLS:C4021005 Short middle phalanx of the third toe|Hypoplastic/small middle phalanx of the 3rd toe Developmental hypoplasia of the middle phalanx of third toe. HP:0100393 Short middle phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100393 UMLS:C4021004 Short middle phalanx of the fourth toe|Hypoplastic/small middle phalanx of the 4th toe|Short middle bone of 4th toe Developmental hypoplasia of the middle phalanx of fourth toe. HP:0100390 Short distal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100390 UMLS:C4021007 Hypoplastic/small distal phalanx of the 4th toe|Short outermost bone of the 4th toe|Short distal phalanx of the fourth toe Developmental hypoplasia of the distal phalanx of fourth toe. HP:0100391 Short distal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100391 UMLS:C4021006 Short outermost bone of the pinky toe|Short distal phalanx of the fifth toe|Short outermost bone of the pinkie toe|Short outermost bone of the little toe|Hypoplastic/small distal phalanx of the 5th toe Developmental hypoplasia of the distal phalanx of little toe. HP:0002094 Dyspnea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002094 MSH:D004417|UMLS:C0013404|SNOMEDCT_US:230145002|SNOMEDCT_US:267036007 Trouble breathing|Dyspnoea|Abnormal breathing|Difficult to breathe|Breathing difficulty Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. HP:0002092 Pulmonary arterial hypertension biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002092 SNOMEDCT_US:11399002|UMLS:C3203102|SNOMEDCT_US:70995007|UMLS:C0020542|MSH:D065627|UMLS:C2973725|SNOMEDCT_US:697898008|MSH:D006976 Primary pulmonary hypertension|Increased blood pressure in blood vessels of lungs|Pulmonary artery hypertension Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. HP:0002093 Respiratory insufficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002093 UMLS:C4020855|MSH:D012131|SNOMEDCT_US:409623005|UMLS:C0035229 progressive respiratory failure|Respiratory function loss|Respiratory impairment HP:0002098 Respiratory distress biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002098 SNOMEDCT_US:271825005|UMLS:C0476273|UMLS:C0013404|MSH:D004417|SNOMEDCT_US:267036007|SNOMEDCT_US:230145002 Shortness of breath|Difficulty breathing|Respiratory difficulties|Short of breath|Breathing difficulties Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. HP:0002099 Asthma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002099 SNOMEDCT_US:991000119106|UMLS:C3714497|MSH:D001249|SNOMEDCT_US:195967001|UMLS:C0004096 Bronchial asthma|Asthma|Reactive airway disease 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. HP:0002097 Emphysema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002097 MSH:D011656|SNOMEDCT_US:87433001|UMLS:C0034067 Pulmonary emphysema HP:0100303 Muscle fiber cytoplasmatic inclusion bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100303 UMLS:C4022157 Muscle fibre cytoplasmatic inclusion bodies|Muscle fiber cytoplasmic bodies The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins. HP:0100304 Muscle fiber intranuclear inclusion bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100304 UMLS:C4022156 Muscle fibre intranuclear inclusion bodies The presence of inclusion bodies within the nucleus of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins. HP:0100301 Muscle fiber tubular inclusions biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100301 UMLS:C4021024 Muscle fiber tubular aggregates|Muscle fibre tubular inclusions Unusual regions of densely packed membranous tubules known as tubular aggregates which present as membranous inclusions, derived from membranes of sarcoplasmic reticulum and mitochondria, containing miscellaneous proteins with a variety of enzymatic activities. HP:0100302 Muscle fiber tubuloreticular inclusions biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100302 UMLS:C4021023 Muscle fibre tubuloreticular inclusions|Muscle fiber tubuloreticular aggregates HP:0100300 Desmin bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100300 UMLS:C4022158 HP:0002080 Intention tremor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002080 MSH:D014202|SNOMEDCT_US:30721006|UMLS:C0234376|UMLS:C4020856 Cerebellar tremor|Terminal tremor A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger). HP:0002078 Truncal ataxia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002078 UMLS:C0427190|SNOMEDCT_US:250067008|MSH:D001259 Instability or lack of coordination of central trunk muscles|Trunk ataxia Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting. HP:0002079 Hypoplasia of the corpus callosum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002079 SNOMEDCT_US:204043002|UMLS:C0344482 Hypoplastic corpus callosum|Small corpus callosum|Thinning of the corpus callosum|Corpus callosum hypoplasia|Thin corpus callosum|Underdevelopment of part of brain called corpus callosum|Hypoplasia of corpus callosum Underdevelopment of the corpus callosum. HP:0002072 Chorea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002072 UMLS:C4020858|SNOMEDCT_US:271700006|UMLS:C0008489|MSH:D002819 Choreatic disease|Choreiform movements|Choreic movements Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities. HP:0002073 Progressive cerebellar ataxia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002073 UMLS:C0393525|SNOMEDCT_US:230233000 Progressive ataxia|Cerebellar ataxia, progressive HP:0100309 Subdural hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100309 UMLS:C0018946|SNOMEDCT_US:35486000|MSH:D006408|SNOMEDCT_US:95453001 Subdural haemorrhage|Subdural haematoma Hemorrhage occurring between the dura mater and the arachnoid mater. HP:0002070 Limb ataxia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002070 UMLS:C0750937|MSH:D001259 Appendicular ataxia A kind of ataxia that affects movements of the extremities. HP:0002071 Abnormality of extrapyramidal motor function biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002071 SNOMEDCT_US:43378000|UMLS:C0015371|SNOMEDCT_US:76349003|MSH:D001480|UMLS:C0234133 Extrapyramidal syndrome|Extrapyramidal signs|Extrapyramidal tract signs|Extrapyramidal dysfunction|Extrapyramidal symptoms A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless). HP:0002076 Migraine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002076 SNOMEDCT_US:37796009|MSH:D008881|UMLS:C0149931|UMLS:C0744641 Migraine|Migraine headaches|Migraine headache|Intermittent migraine headaches Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. HP:0100307 Cerebellar hemisphere hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100307 UMLS:C4022154 HP:0002077 Migraine with aura biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002077 SNOMEDCT_US:4473006|MSH:D020325|UMLS:C0154723 A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession. HP:0100308 Cerebral cortical hemiatrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100308 UMLS:C4022153 Atrophy of one side of the brain, characterized by findings including thinning of the cerebral cortex, reduced volume of the cerebral white matter with abnormal myelination, and enlargement of the ispilateral fourth ventricle. HP:0002074 Increased neuronal autofluorescent lipopigment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002074 UMLS:C4025728|UMLS:C4020857 Neuronal lipopigments Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. HP:0100305 Ring fibers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100305 SNOMEDCT_US:47913008|UMLS:C0333770 Ring fibres Ring fibers are formed by a bundle of peripheral myofibrils which are circumferentially oriented such that they encircle the internal portion of the sarcoplasm which is normal in structure and orientation. HP:0100306 Muscle fiber hyaline bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100306 UMLS:C4022155 Muscle fibre hyaline bodies HP:0002075 Dysdiadochokinesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002075 SNOMEDCT_US:23133003|UMLS:C0234979 Dysdiadochokinesia|Difficulty performing quick and alternating movements A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible. HP:0100314 Cerebral inclusion bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100314 UMLS:C4022149 Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain. HP:0100315 Lewy bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100315 MSH:D016631|MSH:D020961|UMLS:C0752347|SNOMEDCT_US:312991009|SNOMEDCT_US:43127003|UMLS:C0085200|SNOMEDCT_US:80098002 Lewy body disease HP:0100312 Cerebral germinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100312 UMLS:C4022151|NCIT:C3708 The presence of a germ cell tumor of the cerebrum. HP:0100313 Cerebral granulomatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100313 UMLS:C4022150 Cerebral inflammation involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells. HP:0100310 Epidural hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100310 UMLS:C0238154|MSH:D006407|SNOMEDCT_US:82999001|SNOMEDCT_US:428268007 Epidural haemorrhage|Extradural haematoma|Epidural hematoma|Epidural haematoma|Extradural hematoma Hemorrhage occurring between the dura mater and the skull. HP:0002090 Pneumonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002090 UMLS:C0032285|MSH:D011014|SNOMEDCT_US:233604007 Pneumonia Inflammation of any part of the lung parenchyma. HP:0002091 Restrictive ventilatory defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002091 UMLS:C0085581|SNOMEDCT_US:36485005|UMLS:C3277226 Restrictive respiratory disease|Restrictive respiratory insufficiency|Stiff lung or chest wall causing decreased lung volume|Spirometric restriction|Restrictive lung disease|Restrictive deficit on pulmonary function tests|Restrictive deficit on pulmonary function testing|Restrictive respiratory syndrome 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. HP:0100311 Cerebral ventricular adhesions biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100311 UMLS:C4022152 Bands of scar-like tisssue that hve formed within a cerebral ventricle. HP:0002089 Pulmonary hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002089 UMLS:C0265783|SNOMEDCT_US:80825009 Underdeveloped lung|Lung hypoplasia|Poorly developed lungs|Hypoplastic lung|Hypoplastic lungs|Small lung HP:0002083 Migraine without aura biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002083 UMLS:C0338480|SNOMEDCT_US:56097005|MSH:D020326 Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia. HP:0002084 Encephalocele biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002084 UMLS:C0014065|SNOMEDCT_US:48777005|SNOMEDCT_US:253101008|MSH:D004677|SNOMEDCT_US:55999004 Bifid skull|Cranium bifidum A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. HP:0100318 Lafora bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100318 UMLS:C0333749|SNOMEDCT_US:87554006 An intraneuronal inclusion body composed of acid mucopolysaccharides. HP:0002087 Abnormality of the upper respiratory tract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002087 UMLS:C4025727 Upper respiratory tract issues|Abnormality of the upper respiratory tract An abnormality of the upper respiratory tract. HP:0002088 Abnormal lung morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002088 UMLS:C4021760|SNOMEDCT_US:19829001|MSH:D008171|UMLS:C0024115 Lung disease|Unusal lung shape|Abnormally shaped lung|Abnormality of lung structure|Abnormality of the lungs Any structural anomaly of the lung. HP:0100319 Cerebral hyaline bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100319 UMLS:C4021021 Cerebral colloid bodies Cerebral eosinophilic, discrete, intracytoplasmatic inclusions of unknown significance. HP:0002085 Occipital encephalocele biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002085 SNOMEDCT_US:42376006|MSH:D004677|UMLS:C0014067 Brain tissue sticks out through back of skull|Occipital meningoencephalocele|Posterior encephalocele A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp. HP:0100316 Hirano bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100316 SNOMEDCT_US:57458003|UMLS:C0521178 Intracellular aggregates of actin and actin-associated proteins within nerve cells. HP:0100317 Argyrophilic inclusion bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100317 UMLS:C4021022 Pick inclusion bodies|Agyrophilic inclusion bodies Presence of abundant argyrophilic grains and coiled bodies on microscopic examination of brain tissue. HP:0002086 Abnormality of the respiratory system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002086 UMLS:C4018871 Respiratory abnormality An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. HP:0100326 Immunologic hypersensitivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100326 UMLS:C0237653 Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens. HP:0100323 Juvenile aseptic necrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100323 UMLS:C4020710|UMLS:C4022146 Aseptic epiphyseal 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. HP:0040333 Confluent hypointensity of cerebral white matter on MRI biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040333 HP:0100324 Scleroderma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100324 SNOMEDCT_US:89155008|UMLS:C0011644|SNOMEDCT_US:403524003|UMLS:C1274865|MSH:D012594 Progressive systemic scleroderma|Pseudoscleroderma A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin. HP:0040334 Purulent rhinitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040334 Chronic rhinitis accompanied by pus formation. HP:0100321 Abnormality of the dentate nucleus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100321 UMLS:C4022148 An abnormality of the dentate nucleus. HP:0100322 Aplasia of the pyramidal tract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100322 UMLS:C4022147 Absent pyramidal tract HP:0100320 Rosenthal fibers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100320 SNOMEDCT_US:84605001|UMLS:C0333731 Rosenthal fibres 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. HP:0040331 Focal hypointensity of cerebral white matter on MRI biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040331 HP:0100329 Tarsometatarsal synostosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100329 UMLS:C4022144 Fused bones of the midfoot HP:0040332 Multifocal hypointensity of cerebral white matter on MRI biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040332 HP:0100327 Cow milk allergy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100327 UMLS:C0266815|SNOMEDCT_US:15911003 IgE-mediated cow milk allergy|Cow milk allergy|Milk allergy|Immunoglobulin E-mediated cow milk allergy Hypersensitivity in form of an adverse immune reaction against cow milk protein. HP:0040330 Confluent hyperintensity of cerebral white matter on MRI biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040330 Areas of brighter than expected MRI signal in the white matter of the brain whereby individual patches run together. HP:0100328 Carpometacarpal synostosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100328 UMLS:C4022145 Fused wrist bones and long bones of hand Fusion involving carpal and metacarpal bones. HP:0100336 Bilateral cleft lip biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0100336 UMLS:C0392005|SNOMEDCT_US:304068004 Both sided cleft lip|Bilateral cheiloschisis|Right and left cleft lip A non-midline cleft of the upper lip on the left and right sides. HP:0100337 Bilateral cleft palate biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0100337 UMLS:C3553084 Right and left cleft palate|Bilateral palatoschisis Nonmidline cleft palate on the left and right sides. HP:0100334 Unilateral cleft palate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100334 UMLS:C4022143 One sided cleft palate|Unilateral palatoschisis HP:0100335 Non-midline cleft lip biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100335 UMLS:C4021020 Paramedian cleft of the upper lip|Non-midline cleft of the upper lip Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region. HP:0100333 Unilateral cleft lip biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100333 UMLS:C0392006|SNOMEDCT_US:304067009 Unilateral cheiloschisis|Unilateral cleft upper lip|One sided cleft upper lip A non-midline cleft of the upper lip on one side only. HP:0100338 Non-midline cleft palate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100338 UMLS:C4022142 Paramedian cleft palate HP:0100339 Abnormality of the os naviculare pedis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100339 UMLS:C4022141 HP:0100347 Tibial deviation of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100347 UMLS:C4022133 HP:0100348 Contracture of the proximal interphalangeal joint of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100348 UMLS:C4021019 Camptodactyly of the 2nd toe|Camptodactyly of the second toe The proximal interphalangeal joint of the 2nd toe cannot be straightened actively or passively. HP:0100345 Tibial deviation of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100345 UMLS:C4022135 HP:0100346 Fibular deviation of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100346 UMLS:C4022134 HP:0100343 Tibial deviation of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100343 UMLS:C4022137 HP:0100344 Fibular deviation of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100344 UMLS:C4022136 HP:0100341 Tibial deviation of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100341 UMLS:C4022139 HP:0100342 Fibular deviation of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100342 UMLS:C4022138 HP:0100340 Fibular deviation of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100340 UMLS:C4022140 HP:0100349 Contracture of the proximal interphalangeal joint of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100349 UMLS:C4021018 Camptodactyly of the 3rd toe The proximal interphalangeal joint of the 3rd toe cannot be straightened actively or passively. HP:0100358 Contracture of the metatarsophalangeal joint of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100358 UMLS:C4022127 The joint between the second metatarsal and the proximal phalanx of the 4th toe cannot be straightened actively or passively. HP:0100359 Contracture of the metatarsophalangeal joint of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100359 UMLS:C4022126 The joint between the second metatarsal and the proximal phalanx of the 5th toe cannot be straightened actively or passively. HP:0100356 Contracture of the metatarsophalangeal joint of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100356 UMLS:C4022129 The joint between the second metatarsal and the proximal phalanx of the 2nd toe cannot be straightened actively or passively. HP:0100357 Contracture of the metatarsophalangeal joint of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100357 UMLS:C4022128 The joint between the second metatarsal and the proximal phalanx of the 3rd toe cannot be straightened actively or passively. HP:0100354 Contracture of the distal interphalangeal joint of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100354 UMLS:C4022131 The distal interphalangeal joint of the 4th toe cannot be straightened actively or passively. HP:0100355 Contractures of the distal interphalangeal joint of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100355 UMLS:C4022130 Contracture of the outermost hinge joint of the 5th toe The distal interphalangeal joint of the 5th toe cannot be straightened actively or passively. HP:0100352 Contracture of the distal interphalangeal joint of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100352 UMLS:C4021015 Contracture of the distal interphalangeal joint of the second toe The distal interphalangeal joint of the 2nd toe cannot be straightened actively or passively. HP:0100353 Contracture of the distal interphalangeal joint of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100353 UMLS:C4022132 The distal interphalangeal joint of the 3rd toe cannot be straightened actively or passively. HP:0100350 Contracture of the proximal interphalangeal joint of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100350 UMLS:C4021017 Camptodactyly of the fourth toe|Camptodactyly of the 4th toe|Contracture of the innermost hinge joint of the 4th toe The proximal interphalangeal joint of the 4th toe cannot be straightened actively or passively. HP:0100351 Contractures of the proximal interphalangeal joint of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100351 UMLS:C4021016 Camptodactyly of the 5th toe|Camptodactyly of the fifth toe The proximal interphalangeal joint of the fifth toe cannot be straightened actively or passively. HP:0030970 Abnormal vena cava physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030970 An abnormality of the function of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava. HP:0030971 obsolete Abnormal vena cava morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030971 HP:0030976 Abnormal factor VIII activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030976 A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. HP:0002014 Diarrhea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002014 UMLS:C0011991|SNOMEDCT_US:267060006|SNOMEDCT_US:62315008|MSH:D003967 Diarrhea|Watery stool|Diarrhoea Abnormally increased frequency of loose or watery bowel movements. HP:0002015 Dysphagia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002015 MEDDRA:10013950|SNOMEDCT_US:40739000|SNOMEDCT_US:288939007|UMLS:C0011168|MSH:D003680 Deglutition disorder|Swallowing difficulties|Difficulty swallowing|Poor swallowing|Swallowing difficulty Difficulty in swallowing. HP:0030977 Increased factor VIII activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030977 Increased activity of the coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. HP:0004676 Prominent supraorbital arches in adult biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004676 UMLS:C1834993 HP:0003345 Elevated urinary norepinephrine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003345 UMLS:C4025626 An increased concentration of noradrenaline in the urine. HP:0002012 Abnormality of the abdominal organs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002012 UMLS:C4021764 Abnormality of the abdominal organs|Gastrointestinal tract defects An abnormality of the viscera of the abdomen. HP:0003344 3-Methylglutaric aciduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003344 UMLS:C3151952 3-methylglutaricaciduria HP:0030978 Decreased CSF/serum albumin ratio biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030978 A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration. HP:0003343 Reduced glutathione synthetase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003343 SNOMEDCT_US:124706000|SNOMEDCT_US:39112005|UMLS:C0398746|SNOMEDCT_US:234589002|MSH:C536835 Glutathione synthetase deficiency 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. HP:0002013 Vomiting biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002013 MEDDRA:10047700|UMLS:C0042963|SNOMEDCT_US:249497008|MSH:D014839|SNOMEDCT_US:300359004|SNOMEDCT_US:422400008 Vomiting|Throwing up|Emesis Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. HP:0030979 Dilatation of large choroidal vessels biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030979 Dilated choroidal vessels Enlargement of the large blood vessels in the choroid. HP:0030972 Abnormal systemic blood pressure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030972 Abnormal systemic BP A chronic deviation from normal pressure in the systemic arterial system. HP:0002018 Nausea biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002018 MSH:D009325|SNOMEDCT_US:422587007|MEDDRA:10028813|UMLS:C0027497 Nausea A sensation of unease in the stomach together with an urge to vomit. HP:0002019 Constipation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002019 SNOMEDCT_US:14760008|MSH:D003248|SNOMEDCT_US:225595004|UMLS:C0237326|UMLS:C0009806 Constipation|Dyschezia|Costiveness Infrequent or difficult evacuation of feces. HP:0003349 Low cholesterol esterification rate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003349 UMLS:C1843371 A reduction in the rate of cholesterol esterification. HP:0030973 Postexertional malaise biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030973 Postexertional fatigue|Exercise-induced fatigue|Exercise-induced malaise A subjective feeling of tiredness characterized by a lack of energy and motivation and that is induced by exertion or exercise. HP:0030974 Cryptozoospermia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030974 Cryptospermia A type of low sperm count where ejaculated semen contains less than 100,000 spermatozoa per ml. With cryptozoospermia, the sperm count may fluctuate and a zero sperm count in the ejaculate may be initially measured. If sperm are observed in a second semen sample following centrifugation, the diagnosis of cryptozoospermia can be made (and azoospermia can be ruled out). HP:0003348 Hyperalaninemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003348 UMLS:C1839424|UMLS:C1849489|MSH:C562684|SNOMEDCT_US:2359002|UMLS:C0268630 Increased blood alanine|Increased serum alanine An increased concentration of alanine in the blood. HP:0004679 Large tarsal bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004679 UMLS:C1859116 Large ankle bones HP:0003347 Impaired lymphocyte transformation with phytohemagglutinin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003347 UMLS:C4025625 Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes. HP:0002017 Nausea and vomiting biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002017 SNOMEDCT_US:16932000|UMLS:C0027498 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. HP:0030975 Pontine tegmental cap biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030975 Vaulted pontine tegmentum An abnormal curved or vaulted (capped) structure covering the middle third of the dorsal pontine tegmentum and projecting into the fourth ventricle. HP:0002010 Narrow maxilla biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002010 UMLS:C1851835 Decreased width of maxilla|Transverse maxillary insufficiency|Decreased width of upper jaw bones|Transverse hypoplasia of maxilla|Decreased transverse dimension of maxilla|Narrow upper jaw bones|Transverse maxillary deficiency|Decreased breadth of upper jaw bones HP:0004673 Decreased facial expression biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004673 UMLS:C1862474 Decreased facial expression A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions. HP:0002011 Morphological central nervous system abnormality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002011 MSH:D002493|UMLS:C4021765|SNOMEDCT_US:23853001|UMLS:C0007682 Morphological abnormality of the central nervous system|Central nervous system disease|Abnormality of the central nervous system|Morphological abnormality of the CNS A structural abnormality of the central nervous system. HP:0003341 Junctional split biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003341 UMLS:C4021730 Subepidermal blistering with cleavage in the lamina lucida The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin. HP:0003340 obsolete Abnormal dermatological laboratory findings biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003340 HP:0040302 Hyperglycerolemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040302 Pseudohypertriglyceridemia Increased concentration of glycerol in the blood. HP:0040303 Decreased serum iron biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040303 Low serum iron HP:0040300 Abnormal circulating free fatty acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040300 Abnormal circulating free fatty acid level Any deviation from the normal concentration of a free fatty acid in the blood circulation. HP:0040301 Increased urinary glycerol biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040301 An increased concentration of glycerol in the urine. HP:0040306 Decreased male libido biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040306 Reduced desire for sexual activity on the part of a male. HP:0040307 Male sexual dysfunction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040307 A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity HP:0040304 Duplication of the sella turcica biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040304 Duplicate sella turcica|Duplicated sella turcica HP:0040305 Increased male libido biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040305 Increased desire for sexual activity on the part of a male. HP:0030980 Reduced brain glutamine level by MRS biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030980 An decrease in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS). HP:0030981 Abnormal CSF/serum albumin ratio biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030981 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. HP:0040308 Male anorgasmia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040308 Inability of a male to reach orgasm. HP:0040309 Increased size of the mandible biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040309 Large jaw HP:0003357 Thymic hormone decreased biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003357 UMLS:C1857652 Decreased thymic hormone A reduction in the level of thymic horomone. HP:0030987 Suppurative cholangitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030987 Cholangitis characterized by the presence of numerous polymorphonuclear cells around and within the wall as well as within the lumen of the ducts. This may involve ducts of any size and is occasionally associated with abscess formation (cholangitic abscess). HP:0004688 Irregular tarsal bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004688 UMLS:C1855240 Abnormal shape of ankle bones HP:0002025 Anal stenosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002025 SNOMEDCT_US:69914001|UMLS:C0262374|MEDDRA:10002176|SNOMEDCT_US:250037002 Narrowing of anal opening Abnormal narrowing of the anal opening. HP:0030988 Granulomatous cholangitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030988 Cholangitis characterized by the accumulation of granulomas. Granulomas are aggregates of modified macrophages (epithelioid cells) and other inflammatory cells that accumulate after chronic exposure to antigens. The underlying trigger may be exposure to noxious agents that cannot be biochemically degraded or to immune dysfunction. The ultimate result is a release of a variety cytokines that stimulate mononuclear cells that fuse to form multinucleated giant cells with a surrounding rim of lymphocytes and fibroblasts. HP:0004686 Short third metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004686 UMLS:C4021650 Short 3rd long bone of foot|Hypoplasia of the 3rd metatarsal bone Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone. HP:0002023 Anal atresia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002023 Fyler:4443|MEDDRA:10002120|Fyler:4402|UMLS:C0003466|SNOMEDCT_US:204731006|MSH:D001006|SNOMEDCT_US:204712000 Absent anus|Imperforate anus Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. HP:0003355 Aminoaciduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003355 SNOMEDCT_US:35912001|UMLS:C0238621|UMLS:C4020843 Hyperaminoaciduria|Increased levels of animo acids in urine|High urine amino acid levels|Abnormal urinary amino-acid findings An increased concentration of an amino acid in the urine. HP:0030989 Lymphoid cholangitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030989 Cholangitis characterized by a close association between duct branches, usually interlobular bile ducts, and lymphocytic aggregates, which may show a follicular arrangement. HP:0002024 Malabsorption biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002024 UMLS:C3714745 Intestinal malabsorption|Malabsorption Impaired ability to absorb one or more nutrients from the intestine. HP:0003354 Hyperthreoninemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003354 UMLS:C1848861 High blood threonine levels|Elevated circulating threonine An increased concentration of threonine in the blood. HP:0030983 Ovarian thecoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030983 A sex cord-stromal tumor of the ovary. Thecomas range from small tumors to large solid or solid-cystic masses of up to 15 cm. They are unilateral in over 90 percent of cases and are rarely malignant. Thecomas are stromal tumors made up of cells that resemble theca cells, lutein cells and fibroblasts. They are traditionally classified within the sex cord-stromal tumor category of ovarian tumor types. HP:0030984 Abnormal serum bile acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030984 A deviation from the normal concentration of serum bile acid concentration. HP:0002027 Abdominal pain biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002027 SNOMEDCT_US:21522001|MSH:D015746|UMLS:C0000737|MEDDRA:10000081 Gastrointestinal pain|Abdominal discomfort|Upset stomach|Gastro pain|Pain in stomach|Stomach pain|Abdominal pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. HP:0030985 Decreased serum bile concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030985 A reduction in the concentration of bile acid in the blood. HP:0003359 Decreased urinary sulfate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003359 UMLS:C1848958 Decreased urinary sulphate|Decreased urinary sulfate Decreased concentration of sulfate in the urine. HP:0003358 Elevated intracellular cystine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003358 UMLS:C4025623 An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells. HP:0030986 Biliary epithelial hyperplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030986 Hyperplasia of lining epithelia of the septal and large bile ducts manifesting as micropapillary projections or as a stratification of the epithelium with or without dilatation of the duct lumen. HP:0002028 Chronic diarrhea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002028 UMLS:C0401151|SNOMEDCT_US:236071009 Recurrent diarrhea|Diarrhea, recurrent|Chronic diarrhoea|Chronic diarrhea The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. HP:0004689 Short fourth metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004689 UMLS:C1848514 Bilateral fourth metatarsal shortening|Short 4th long bone of foot|Short fourth metatarsus|Short fourth metatarsals Short fourth metatarsal bone. HP:0002021 Pyloric stenosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002021 MSH:D011707|SNOMEDCT_US:367403001|Fyler:4444|UMLS:C0034194|MEDDRA:10037621 An abnormal narrowing of the pylorus. HP:0003353 Propionyl-CoA carboxylase deficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003353 SNOMEDCT_US:69080001|SNOMEDCT_US:124718009|UMLS:C0268579|MSH:D056693 An abnormality of amino acid metabolism characterized by a decreased level of propionyl-CoA carboxylase. HP:0004684 Talipes valgus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004684 SNOMEDCT_US:79807003|UMLS:C0152236 Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot. HP:0003352 Endopolyploidy on chromosome studies of bone marrow biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003352 UMLS:C4025624 An increase in the number of chromosome sets per cell in bone marrow cells. HP:0003351 Decreased circulating renin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003351 UMLS:C1845206 Decreased plasma renin activity|Low plasma renin activity|Suppressed plasma renin activity An decreased level of renin in the blood. HP:0002020 Gastroesophageal reflux biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002020 UMLS:C0018834|MSH:D006356|SNOMEDCT_US:235595009|SNOMEDCT_US:16331000|SNOMEDCT_US:698065002|UMLS:C0017168|MSH:D005764 Heartburn|Gastroesophageal reflux disease|Gastro-oesophageal reflux|GERD|Acid reflux disease|Acid reflux A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. HP:0004681 Deep longitudinal plantar crease biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0004681 UMLS:C1859223|UMLS:C4280508 Longitudinal groove on soles|Foot crease Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot. HP:0040313 Oligoarthritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040313 A type of arthritis that affects up to four joints in the first six months of disease. HP:0040314 Blind vagina biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040314 Blind-ended vagina The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia. HP:0040311 Symmetric polyarthritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040311 Polyarthritis refers to a joint disease that involves at least five joints. One or more signs of inflammation, including pain, movement restriction, swelling, warmth, and redness, are seen in the joints involved. Polyarthritis is defined as symmetric if at least half of the joints involved are affected in a symmetric (i.e., both right and the left) fashion. HP:0040312 Temporomandibular arthritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040312 Arthritis of temporomandibular joint HP:0040317 Blue urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040317 An abnormal blue color of the urine. HP:0040318 Red urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040318 An abnormal red color of the urine. HP:0040315 Tongue edema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040315 Tongue oedema An abnormal accumulation of fluid and swelling in the tongue. HP:0040316 obsolete Aplasia of the penis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040316 HP:0030990 Pleomorphic cholangitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030990 Cholangitis associated with mixed inflammatory infiltrates and the presence of fibrosis or sclerosis of the biliary tree. HP:0030991 Sclerosing cholangitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030991 Fibrous cholangitis Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative. HP:0040319 Dark urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040319 An abnormal dark color of the urine. HP:0030992 Abnormal pancreatic duct morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030992 Any structural anomaly of the pancreatic duct, which is the tubular structure that collects exocrine pancreatic secretions and transports them to the duodenum. HP:0003329 Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003329 UMLS:C4025631 HP:0030993 Duplication of pancreatic duct biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030993 Duplicated pancreatic duct A congenital anomaly characterized by the presence of two separate pancreatic ducts. HP:0003324 Generalized muscle weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003324 UMLS:C0746674 Muscle weakness, generalized|Muscle weakness, diffuse|Generalised muscle weakness|Generalized weakness Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature. HP:0005987 Multinodular goiter biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005987 SNOMEDCT_US:237570007|UMLS:C0342208 Multinodular goitre Enlargement of the thyroid gland related to multiple nodules in the thyroid gland. HP:0030998 Cerebrospinal fluid rhinorrhoea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030998 CSF rhinorrhoea Drainage of cerebrospinal fluid through the nose. This can occur when there is a fistula between the dura and the skull base and discharge of cerebrospinal fluid (CSF) from the nose. HP:0003323 Progressive muscle weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003323 UMLS:C0240421 Muscle weakness, progressive|Progressive muscular weakness HP:0030999 Abnormal vestibular saccule morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030999 Any structural anomaly of the saccule of the vestibule. The saccule is the otolith organ that senses motions in the sagittal plane (i.e., up-down movement). HP:0005988 Congenital muscular torticollis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005988 MSH:C535425|SNOMEDCT_US:268240006|UMLS:C0079352 Torticollis, congenital A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending. HP:0005989 Redundant neck skin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005989 UMLS:C1840319 Excess skin over the neck|Excessive nuchal skin|Redundant neck skin|Redundant skin over the neck|Redundant skin folds of neck|Redundant nuchal skin|Excess neck skin Excess skin around the neck, often lying in horizontal folds. HP:0003321 Biconcave flattened vertebrae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003321 UMLS:C1833753 HP:0003328 Abnormal hair laboratory examination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003328 UMLS:C4025632 HP:0030994 Pancreas divisum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030994 A congenital anomaly of the pancreas that results from failed fusion of the dorsal and ventral ducts during embyological development. Three variants have been described: type 1 or classical divisum in which there is total failure of fusion; type 2 in which dorsal drainage is dominant in the absence of the duct of Wirsung; and type 3 or incomplete divisum where a small communicating branch is present. HP:0003327 Axial muscle weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003327 UMLS:C1843697 Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs). HP:0005984 Elevated maternal serum alpha-fetoprotein biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005984 UMLS:C0740927 An elevation of alpha-feto protein in the maternal serum. HP:0030995 Peritoneal effusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030995 An increase in the amount of fluid present in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen). HP:0003326 Myalgia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003326 MSH:D063806|SNOMEDCT_US:68962001|UMLS:C0231528 Muscle pain|Myalgias|Muscle ache Pain in muscle. HP:0030996 Megaduodenum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030996 Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum. HP:0003325 Limb-girdle muscle weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003325 UMLS:C1858127 Muscle weakness, limb-girdle|Muscular weakness, limb-girdle|Limb girdle weakness Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis. HP:0030997 Atretic vas deferens biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030997 Vas deferens atresia|Atresia of the vas deferens Abnormal closure or blockage of the vas deferens. HP:0005986 Limitation of neck motion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005986 UMLS:C0151315|SNOMEDCT_US:161882006|UMLS:C1847392|SNOMEDCT_US:405947006|MSH:D009127|UMLS:C1320474 Limitation of neck motion|Limited neck mobility|Restricted neck movement HP:0005982 Reduced phenylalanine hydroxylase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005982 UMLS:C4025094|SNOMEDCT_US:7573000|MSH:D010661|UMLS:C0751434 Phenylalanine hydroxylase deficiency A reduction in phenylalanine 4-monooxygenase level. HP:0003320 C1-C2 subluxation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003320 UMLS:C1848446 A partial dislocation of the atlantoaxial joints. HP:0040310 Sterile arthritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040310 An inflammatory arthritis characterized by purulent synovial fluid with neutrophil accumulation, but with negative cultures. HP:0040324 Heliotrope rash biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040324 Heliotrope erythema In a heliotrope rash, the color of the skin turns to violet, which is the color of the heliotrope flower. HP:0040325 Bull's eye rash biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040325 A cutaneous eruption that consists of multiple (at least two) concentric erythematous rings. HP:0040322 Purple urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040322 An abnormal purple color of the urine. HP:0040323 Erythema of the eyelids biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040323 Eyelid erythema|Erythema of eyelid Redness of the skin of the eyelids, caused by hyperemia of the capillaries in the lower layers of the skin. HP:0040328 Focal hyperintensity of cerebral white matter on MRI biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040328 An abnormal area of increased brightness (hyperintensity) that is limited to one particular area. HP:0040329 Multifocal hyperintensity of cerebral white matter on MRI biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040329 An abnormal area of increased brightness (hyperintensity) that occurs in several distinct areas. HP:0040326 Hypoplasia of the olfactory bulb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040326 Hypoplastic olfactory bulb|Hypoplasia of olfactory bulb Underdevelopment of the olfactory bulb. HP:0040327 Abnormal morphology of the olfactory bulb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040327 An abnormal morphology of the olfactory bulb (bulbus olfactorius), which is involved in olfaction, i.e. the sense of smell. HP:0002009 Potter facies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002009 UMLS:C0266619|SNOMEDCT_US:24814002 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. HP:0002003 Large forehead biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002003 UMLS:C4280584|UMLS:C4280583|UMLS:C1839783 Hypertrophy of forehead|Increased size of frontal region of face|Increased size of forehead|Large forehead|Hyperplasia of forehead HP:0003335 obsolete Low gonadotropins (secondary hypogonadism) biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003335 HP:0005999 Ureteral atresia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005999 UMLS:C0266320|SNOMEDCT_US:204974003|SNOMEDCT_US:49534003 A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter. HP:0003334 Elevated circulating catecholamine level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003334 UMLS:C4025629 An abnormal increase in catecholamine concentration in the blood. HP:0003333 Increased serum beta-hexosaminidase biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003333 UMLS:C2673361 HP:0004664 Facial midline hemangioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004664 UMLS:C1862496 Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face. HP:0002002 Deep philtrum biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002002 UMLS:C4020861|UMLS:C1839797 Pronounced philtrum|Prominent philtrum|Depressed philtrum|Philtrum, deep|Increased depth of philtrum Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border. HP:0003332 Absent primary metaphyseal spongiosa biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003332 UMLS:C3277126 HP:0002007 Frontal bossing biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002007 UMLS:C0221354|SNOMEDCT_US:90145001 Frontal protruberance|Skull bossing Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. HP:0005994 Nodular goiter biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005994 SNOMEDCT_US:419153005|MSH:D006044|UMLS:C0018023 Nodular goitre Enlargement of the thyroid gland related to one or more nodules in the thyroid gland. HP:0003339 Pyrimidine-responsive megaloblastic anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003339 UMLS:C4021731 Pyrimidine-responsive megaloblastic anaemia|Anemia corrected by uridylic acid and cytidylic acid A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid. HP:0005995 Decreased adipose tissue around neck biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005995 UMLS:C1837763 Loss of fat around neck|Loss of adipose tissue around the neck Reduced amount of adipose tissue in the region of the neck. HP:0003338 Focal necrosis of right ventricular muscle cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003338 UMLS:C4025627 HP:0003337 Reduced prothrombin consumption biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003337 UMLS:C4021732 Poor prothrombin consumption The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia. HP:0002006 Facial cleft biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002006 UMLS:C0685787|SNOMEDCT_US:92821006 Facial clefts|Facial cleft|Tessier facial cleft|Cleft of the face A congenital malformation with a cleft (gap or opening) in the face. HP:0005997 Restricted neck movement due to contractures biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005997 UMLS:C1867006 Restricted neck movement due to contractures|Restricted neck mobility due to contractures|Neck flexion contracture HP:0003336 Abnormal enchondral ossification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003336 UMLS:C4025628 An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage. HP:0005990 Thyroid hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005990 SNOMEDCT_US:367524008|MSH:D050033|UMLS:C0151516 Small thyroid gland|Hypoplastic thyroid Developmental hypoplasia of the thyroid gland. HP:0005991 Limited neck flexion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005991 UMLS:C1864449 Limited neck flexibility|Limited cervical flexion Reduced abilty to lower the chin towards the chest by bending the neck. HP:0040320 Red-brown urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040320 red brown urine An abnormal red-brown color of the urine. HP:0002000 Short columella biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002000 UMLS:C1857479|UMLS:C4280585 Hypoplasia of columella|Decreased length of columella|Columella, short Reduced distance from the anterior border of the naris to the subnasale. HP:0003330 Abnormal bone structure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003330 UMLS:C4025630 Any anomaly in the composite material or the layered arrangement of the bony skeleton. HP:0004661 Frontalis muscle weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004661 UMLS:C1859438 Weakness of forehead muscle|Weak frontalis muscle Reduced strength of the frontalis muscle (which is located on the forehead). HP:0040321 Dark yellow urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040321 An abnormal dark-yellow color of the urine. HP:0004660 Hypoplasia of facial musculature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004660 UMLS:C4280509|UMLS:C4280511|UMLS:C1834042|UMLS:C4280510 Atrophy of facial musculature|Small facial muscles|Hypotrophic facial musculature|Deficiency of facial musculature|Underdevelopment of facial muscles|Decreased size of facial muscles Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve). HP:0002058 Myopathic facies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002058 UMLS:C0332615|SNOMEDCT_US:26432009 Myopathic facial appearance|Myopathic face A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness. HP:0030932 1-minute APGAR score of 5 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030932 HP:0002059 Cerebral atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002059 UMLS:C4020860|UMLS:C0154671|SNOMEDCT_US:278849000|SNOMEDCT_US:418143002|UMLS:C0235946|SNOMEDCT_US:52522001 Supratentorial atrophy|Degeneration of cerebrum Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. HP:0030933 1-minute APGAR score of 6 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030933 HP:0002056 Abnormality of the glabella biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002056 UMLS:C4021763 Malformation of the area between the eyebrows|Deformity of the area between the eyebrows|Abnormality of the area between the eyebrows|Glabellar abnormality An abnormality of the glabella. HP:0030934 Oral erythroplakia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030934 Oral erythroplasia A velvety red but not ulcerated lesion of the oral mucosa. The texture may be roughened or normal, and the lesion is neither raised nor depressed. HP:0003388 Easy fatigability biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003388 SNOMEDCT_US:248268002|UMLS:C0424585|UMLS:C1837098 Tired easily Increased susceptibility to fatigue. HP:0002057 Prominent glabella biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002057 UMLS:C1860247 Convex glabella|Protruding area between the eyebrows|Hyperplasia of glabella|Prominent area between the eyebrows Forward protrusion of the glabella. HP:0003387 Decreased number of large peripheral myelinated nerve fibers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003387 UMLS:C1859606 Loss of large myelinated fibers|Decreased number of large peripheral myelinated nerve fibres|Depletion of large myelinated fibers|Loss of larger myelinated nerve fibers A reduced number of large myelinated nerve fibers. HP:0030935 Abnormality of intestinal smooth muscle morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030935 A structural anomaly of the nonstriated, involuntary muscle tissue of the intestine. HP:0030930 1-minute APGAR score of 3 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030930 HP:0030931 1-minute APGAR score of 4 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030931 HP:0003382 Hypertrophic nerve changes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003382 UMLS:C1832776 HP:0002050 Macroorchidism, postpubertal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002050 UMLS:C1839782 HP:0003380 Decreased number of peripheral myelinated nerve fibers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003380 UMLS:C1858285 Decreased number of large and small myelinated fibers|Decreased number of peripheral myelinated nerve fibres|Loss of myelinated fibers A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy). HP:0030936 Abnormal layering of muscularis propria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030936 Muscularis propria malformation|Segmental additional circular muscle coat Abnormal layering of the intestinal muscularis propria into three layers; (1) inner circular; (2) additional oblique; and (3) outer longitudinal layer. HP:0002054 Heavy supraorbital ridges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002054 UMLS:C1845107 Heavy supraorbital ridge|Heavy brow of the face HP:0030937 Fibrotic muscularis propria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030937 The presence of excessive fibrous connective tissue in the muscularis propria of the intestine. Fibrosis is a reparative or reactive process. HP:0002055 Curved linear dimple below the lower lip biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002055 UMLS:C1844572 HP:0030938 Enteric intraneuronal nuclear inclusion bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030938 Aggregates of stainable substances (proteins) in the nuclei of enteric neurons. HP:0003384 Peripheral axonal atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003384 UMLS:C4025619 Atrophic changes of axons of the peripheral nervous system. HP:0003383 Onion bulb formation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003383 UMLS:C1847906 'Onion bulb' formations|Onion bulb formations Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves. HP:0030939 Palpebral thickening biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030939 Eyelid thickening|Thickened but nonswollen eyelids|Thick eyelids|Thickened eyelid An increased thickness of the eyelid not related to acute inflammation. HP:0030943 Vulvodynia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030943 Vulvar pain Pain in the vulvar area HP:0002069 Bilateral tonic-clonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002069 SNOMEDCT_US:54200006|MSH:D012640|UMLS:C0494475 Generalized tonic-clonic seizure (without specification of onset)|Tonic-clonic convulsions|Bilateral convulsive seizures|Tonic-clonic convulsion|Generalized convulsion|Generalised tonic-clonic seizure (without specification of onset)|Seizures, tonic-clonic|Grand mal|Grand mal seizures A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase. HP:0002067 Bradykinesia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002067 MSH:D018476|UMLS:C0233565|SNOMEDCT_US:399317006 Slow movements|Slowness of movements Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement). HP:0030946 Conjunctival papillae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030946 Raised tissue masses located on the palpebral conjunctiva with a central vessel. Papillae are created by a focal infiltration of inflammatory cells. HP:0003398 Abnormal synaptic transmission at the neuromuscular junction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003398 UMLS:C4020842|UMLS:C4025618 Abnormality of neuromuscular transmission Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers. HP:0002068 Neuromuscular dysphagia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002068 UMLS:C4025729 HP:0003393 Thenar muscle atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003393 UMLS:C1864715 Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb. HP:0002061 Lower limb spasticity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002061 SNOMEDCT_US:394679006|UMLS:C1271100 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 HP:0002062 Morphological abnormality of the pyramidal tract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002062 UMLS:C4021761|UMLS:C4020859 Pyramidal tract disease|Abnormality of the pyramidal tracts Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts. HP:0003392 First dorsal interossei muscle weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003392 UMLS:C1832277 HP:0003391 Gowers sign biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003391 UMLS:C0234182|UMLS:C0575071|SNOMEDCT_US:298294005|SNOMEDCT_US:85905009 Positive Gowers sign|Gower sign|Positive Gower sign A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs. HP:0002060 Abnormal cerebral morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002060 UMLS:C4021762 Abnormality of the cerebrum|Abnormality of the telencephalon Any structural abnormality of the telencephalon, which is also known as the cerebrum. HP:0003390 Sensory axonal neuropathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003390 UMLS:C1842587|UMLS:C1970883 Peripheral sensory axonal neuropathy|Axonal sensory neuropathy An axonal neuropathy of peripheral sensory nerves. HP:0030947 Conjunctival follicles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030947 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. HP:0003397 Generalized hypotonia due to defect at the neuromuscular junction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003397 UMLS:C1853950 Generalised hypotonia due to defect at the neuromuscular junction HP:0002066 Gait ataxia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002066 MSH:D020234|UMLS:C0751837|SNOMEDCT_US:25136009 Inability to coordinate movements when walking|Ataxic gait|Ataxia of gait A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall. HP:0003396 Syringomyelia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003396 MSH:D013595|UMLS:C0039144|SNOMEDCT_US:111496009 Fluid-filled cyst in spinal cord|Syrinx Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord. HP:0030948 Elevated gamma-glutamyltransferase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030948 Elevated serum GGT 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. HP:0002063 Rigidity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002063 MSH:D009127|SNOMEDCT_US:16046003|UMLS:C0026837 Muscle rigidity|Rigidity Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity. HP:0030949 Glomerular deposits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030949 An abnormal accumulation of protein in the glomerulus. HP:0002064 Spastic gait biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002064 MSH:D020233|SNOMEDCT_US:9447003|UMLS:C0231687 Spastic walk Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg. HP:0003394 Muscle spasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003394 UMLS:C0026821|MSH:D009120|SNOMEDCT_US:55300003 Muscle cramps Sudden and involuntary contractions of one or more muscles. HP:0002036 Hiatus hernia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002036 SNOMEDCT_US:84089009|MEDDRA:10020028|UMLS:C3489393|MSH:D006551 Stomach hernia|Hiatal hernia The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus. HP:0004699 Osteoporotic metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004699 UMLS:C1836873 Decrease in mass and density of the metatarsal bones. HP:0003368 Abnormal femoral head morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003368 UMLS:C4025620 Abnormality of the femoral head|Abnormal head of thigh bone An abnormality of the femoral head. HP:0002037 Inflammation of the large intestine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002037 UMLS:C0021390|SNOMEDCT_US:24526004|MSH:D015212|UMLS:C0578878|SNOMEDCT_US:302168000 Inflammatory bowel disease|Inflammation of the large intestine Inflammation, or an inflammatory state in the large intestine. HP:0030955 Alcoholism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030955 An addictive behavior defined as drinking excessive amounts of alcohol over a long period of time, having difficulty reducing the amount of alcohol consumed, strongly desiring alcohol and experiencing withdrawal symptoms when not drinking alcohol. HP:0003367 Abnormal femoral neck morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003367 UMLS:C4025621 Abnormal neck of thigh bone|Abnormality of the femoral neck An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). HP:0002034 Abnormal rectum morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002034 SNOMEDCT_US:86993003|UMLS:C0266210 Anomaly of the rectum|Abnormality of the rectum An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus. HP:0030956 Abnormality of cardiovascular system electrophysiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030956 An anomaly of the electrical conduction physiology of the heart. HP:0003366 Abnormal femoral neck/head morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003366 UMLS:C4025622 Abnormality of the femoral neck or head region|Abnormal neck or head of thigh bone HP:0002035 Rectal prolapse biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002035 SNOMEDCT_US:57773001|MEDDRA:10038077|MSH:D012005|UMLS:C0034888 Rectum protrudes through anus|Rectal prolapsed Protrusion of the rectal mucous membrane through the anus. HP:0003365 Arthralgia of the hip biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003365 UMLS:C0019559|SNOMEDCT_US:49218002 Hip joint pain|Coxalgia|Hip arthralgia Joint pain affecting the hip. HP:0030957 Ventricular septal aneurysm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030957 Ventricular septal dilatation A bowing (bulging to one side) of the interventricular septum of more than 15 mm on either side in adults and 5 mm in children during normal cardiac motion. HP:0004696 Talipes cavus equinovarus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004696 UMLS:C1832342 HP:0030950 Pulmonary venous hypertension biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030950 An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension. HP:0030951 Skeletal muscle fibrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030951 Excessive formation of fibrous bands of scar tissue in between muscle fibers. HP:0030952 Birdshot choroidal lesions biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030952 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. HP:0002038 Protein avoidance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002038 UMLS:C1839531 HP:0002039 Anorexia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002039 MSH:D000855|SNOMEDCT_US:79890006|UMLS:C0003123 Anorexia A lack or loss of appetite for food (as a medical condition). HP:0030953 Conjunctival hyperemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030953 Conjunctival injection|Conjunctival hyperaemia|Conjunctival vascular congestion Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera. HP:0004691 2-3 toe syndactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004691 UMLS:C0432040|SNOMEDCT_US:205145001 partial or complete syndactyly 2nd-3rd toes|2-3 toe soft tissue syndactyly|2-3 syndactyly of feet|2-3 toes syndactyly|Webbed 2nd and 3rd toes|Toe syndactyly, 2-3|Syndactyly of second and third toes Syndactyly with fusion of toes two and three. HP:0004690 Thickened Achilles tendon biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004690 UMLS:C0919997 Thickened Achilles tendon An abnormal thickening of the Achilles tendon. HP:0002032 Esophageal atresia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002032 MSH:D004933|Fyler:4412|SNOMEDCT_US:26179002|UMLS:C0014850 Birth defect in which part of esophagus did not develop 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. HP:0004695 Calcaneal epiphyseal stippling biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004695 UMLS:C1861708 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the calcaneus. HP:0030958 Membranous ventricular septal aneurysm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030958 Fyler:2346 Aneurysm of the membranous ventricular septum|Interventricular septum membranous part aneurysm Bowing (bulging out) of the membranous part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle). HP:0002033 Poor suck biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002033 UMLS:C1837142 Poor suck|Sucking weakness|Poor sucking An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed. HP:0003363 Abdominal situs inversus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003363 SNOMEDCT_US:27317008|Fyler:3816|MSH:D012857|SNOMEDCT_US:43876007|UMLS:C0037221 Situs inversus visceralis|Situs inversus viscerum A left-right reversal (or "mirror reflection") of the anatomical location of the viscera of the abdomen. HP:0030959 Muscular ventricular septal aneurysm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030959 Aneurysm of the muscular ventricular septum Bowing (bulging out) of the muscular part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle). HP:0003362 Increased VLDL cholesterol concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003362 UMLS:C4021729 Increased circulating very-low-density lipoprotein levels|Increased plasma VLDL cholesterol|Increased circulating very-low-density lipoprotein cholesterol An increase in the amount of very-low-density lipoprotein cholesterol in the blood. HP:0002031 Abnormal esophagus morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002031 SNOMEDCT_US:69771008|UMLS:C0266126 Anomaly of the esophagus|Abnormality of esophagus structure|Abnormal oesophagus morphology A structural abnormality of the esophagus. HP:0003361 Tryptophanuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003361 UMLS:C0268472|SNOMEDCT_US:18789002 High urine tryptophan levels An increased concentration of tryptophan in the urine. HP:0004692 4-5 toe syndactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004692 UMLS:C1837836 Symmetric syndactyly, toes 4 and 5|Syndactyly of toes 4 and 5|Webbed 4th-5th toes Syndactyly with fusion of toes four and five. HP:0030960 obsolete Abnormal pupillary morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030960 HP:0002047 Malignant hyperthermia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002047 SNOMEDCT_US:213026003|SNOMEDCT_US:405501007|MSH:D008305|UMLS:C0024591 Malignant hyperthermia with anesthesia Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine. HP:0030965 Aortic stiffness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030965 Increased aortic stiffness The elastic properties of the aorta allow the aorta to store half of the cardiac ejected blood volume per beat, whereby aortic recoil during diastole pushes the remaining stored volume forward into the peripheral circulation, a phenomenon known as the Windkessel function. Aortic stiffness occurs as the elastic fibers within the arterial wall become disrupted due to mechanical stress (with age or due to other factors). Aortic stiffness refers to a reduction in the elasticity of the aorta, which is associated with an elevated pulse pressure, increased wave reflection, and often hypertension. HP:0003378 Axonal degeneration/regeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003378 UMLS:C1968790 Axon degeneration and regeneration A pattern of simultaneous degeneration and regeneration of axons (see comment). HP:0002048 Renal cortical atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002048 UMLS:C4025730 Atrophy of the cortex of the kidney. HP:0030966 Abnormal pulmonary artery morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030966 An abnormality of the structure of the pulmonary artery. HP:0002045 Hypothermia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002045 UMLS:C0020672|MSH:D007035|SNOMEDCT_US:386689009 Abnormally low body temperature|Hypothermia Reduced body temperature due to failed thermoregulation. HP:0030967 Abnormal pulmonary artery physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030967 An abnormality of the function of the pulmonary artery. HP:0002046 Heat intolerance biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002046 UMLS:C0231274|SNOMEDCT_US:69215007 Heat intolerance|Intolerance to heat and fevers The inability to maintain a comfortably body temperature in warm or hot weather. HP:0003376 Steppage gait biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003376 MSH:D020233|SNOMEDCT_US:27253007|UMLS:C0427149 'steppage' gait|High stepping An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again. HP:0030968 Abnormal pulmonary vein morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030968 Fyler:3000 An abnormality of the structure of the pulmonary veins. HP:0030961 Microspherophakia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030961 Lens of the eye is smaller than normal and spherically shaped. HP:0030962 Abnormal morphology of the great vessels biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030962 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. HP:0002049 Proximal renal tubular acidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002049 MSH:D000141|UMLS:C0268435|SNOMEDCT_US:24790002 Renal tubular acidosis, type II|Renal tubular acidosis, proximal|Proximal 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. HP:0030963 obsolete Abnormal aortic morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030963 HP:0030964 Abnormal aortic physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030964 HP:0003371 Enlargement of the proximal femoral epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003371 UMLS:C1859697 Enlarged end part of innermost thighbone|Enlarged capital femoral epiphyses An abnormal enlargement of the proximal epiphysis of the femur. HP:0002040 Esophageal varix biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002040 UMLS:C0014867|SNOMEDCT_US:28670008|MSH:D004932|MEDDRA:10056091 Esophageal varices|Enlarged vein in esophagus Extreme dilation of the submucusoal veins in the lower portion of the esophagus. HP:0003370 Flat capital femoral epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003370 UMLS:C1842155 Flattened proximal femoral epiphyses|Flat end part of innermost thighbone|Flat capital femoral epiphyses|Flat proximal femoral epiphyses|Flat femoral capital epiphyses An abnormal flattening of the proximal epiphysis of the femur. HP:0003375 Narrow greater sciatic notch biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003375 UMLS:C0566888|SNOMEDCT_US:289457006 Narrow greater sacrosciatic notches|Small sacrosciatic notch|Narrow sacrosciatic notch|Narrow sacroiliac notch|Narrow sciatic notches|Small sacrosciatic notches|Narrowed sacrosciatic notch|Narrowed greater sciatic notch A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium. HP:0002043 Esophageal stricture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002043 SNOMEDCT_US:63305008|MSH:D004940|UMLS:C0014866 Narrowing of esophagus due to inflammation and scar tissue A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen. HP:0030969 Abnormal pulmonary vein physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030969 An abnormality of the function of the pulmonary veins. HP:0002044 Zollinger-Ellison syndrome biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002044 MEDDRA:10048281|MSH:D015043|UMLS:C0043515|SNOMEDCT_US:53132006 A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration. HP:0002041 Intractable diarrhea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002041 UMLS:C0743178 Intractable diarrhoea HP:0005929 Synostosis involving the tibia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005929 UMLS:C4025103 Bone fusion involving the shinbone HP:0005925 Abnormalities of the diaphyses of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005925 UMLS:C4025106 Abnormalities of shaft of long bone of the hand HP:0005926 Abnormality of hand cortical bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005926 UMLS:C4025105 Abnormality of the cortex of hand bones An anomaly of the outer shell (cortex) of a hand bone. HP:0005927 Aplasia/hypoplasia involving bones of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005927 UMLS:C4021612 Hypoplasia/absence of hand bones|Absent/small hand bones|Absent/underdeveloped hand bones Absence (due to failure to form) or underdevelopment of the bones of the hand. HP:0005928 Synostosis involving the fibula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005928 UMLS:C4025104 Bone fusion involving the calf bones HP:0005921 obsolete Abnormal ossification of hand bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005921 HP:0005922 Abnormal hand morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005922 UMLS:C4025109 Abnormal shape of hand Any structural anomaly of the hand. HP:0005923 Abnormalities of the metaphyses of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005923 UMLS:C4025108 Abnormality of the wide portion of the hand bone HP:0005924 Abnormality of the epiphyses of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005924 UMLS:C4025107 Abnormality of the epiphyses of the fingers|Abnormality of the epiphyses of the phalanges of the hand|Abnormality of the end part of the hand bone|Abnormality of the end part of the hand bones Any abnormality of the epiphyses of the phalanges or metacarpal bones. HP:0005920 Abnormal epiphysis morphology of the phalanges of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005920 UMLS:C4021613 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). HP:0004608 Anteriorly placed odontoid process biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004608 UMLS:C1844512 Anterior mislocalization of the dens of the axis. HP:0004607 Anterior beaking of lower thoracic vertebrae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004607 UMLS:C4025306 Anterior tongue-like protrusions of the lower thoracic vertebral bodies. HP:0004606 Unossified vertebral bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004606 UMLS:C1860202 A lack of ossification of the vertebral bodies. HP:0004605 Absent vertebral body mineralization biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004605 UMLS:C1860191 A lack of bone mineralization of the vertebral bodies. HP:0005938 Abnormal respiratory motile cilium morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005938 UMLS:C4025100 Abnormal arrangement of the structures of the motile cilium. HP:0004609 Patchy distortion of vertebrae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004609 UMLS:C4025305 HP:0005939 Multiple bilateral pneumothoraces biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005939 UMLS:C4025099 HP:0005932 Abnormal renal corticomedullary differentiation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005932 UMLS:C4025102 An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla. HP:0030900 Pruritus on foot biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030900 Itchy foot|Itchy feet Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the foot. HP:0030901 Pruritis on breast biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030901 Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the breast. HP:0005934 Imperfect vocal cord adduction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005934 UMLS:C4025101 HP:0030902 Palmomental reflex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030902 A type of primitive reflex characterized by an involuntary contraction of the mentalis muscle of the chin caused by stimulation of the thenar eminence of the palm. HP:0004603 Hyperconvex vertebral body endplates biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004603 UMLS:C4025307 HP:0004602 Cervical C2/C3 vertebral fusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004602 UMLS:C0022738|SNOMEDCT_US:5601008|SNOMEDCT_US:388981000|MSH:D007714 Klippel-Feil syndrome|Fusion of cervical vertebrae c2-3|Klippel-Feil anomaly Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine. HP:0005930 Abnormality of epiphysis morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005930 UMLS:C4021611 Anomaly of the epiphyses|Epiphyseal abnormality|Abnormal shape of end part of bone|Abnormality of the epiphyses 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. HP:0004601 Spina bifida occulta at L5 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004601 UMLS:C4025308 The closed form of spina bifida with incomplete closure of the vertebra L5 with intact overlying skin. HP:0030907 Thunderclap headache biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030907 Severe head pain with sudden onset, reaching its maximum intensity in less than one minute and lasting from one hour to ten days. HP:0030908 Liver kidney microsome type 1 antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030908 Anti-LKM-1 positive The presence of autoantibodies (immunoglobulins) in the serum that react against P450 2D6, a cytochrome P450 mono-oxygenase. Anti-LKM-1 antibodies are considered to be a diagnostic marker of autoimmune hepatitis type 2 (AIH2). HP:0030909 Anti-liver cytosolic antigen type 1 antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030909 Anti-liver cytosol antibody-1 positivity The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction. HP:0030903 Grasp reflex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030903 Palmar grasp reflex A type of primitive reflex that can be elicated when the hand of the examiner is gently inserted into the palm of the patient's hand. The palmar surface is stroked or simply touched. The flexor surfaces of the fingers may be stimulated also by the examiner's fingers. The stimulus should be in a distal direction. With a positive response, the patient grasps the examiner's hand with variable strength and continues to grasp as the examiner's hand is moved. Ability to release the grip voluntarily depends on the activity of the reflex; some patients can do so readily, while others can even be lifted off the bed, since the grasp has such power [NCBI Books:NBK395]. HP:0030904 Glabellar reflex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030904 Myerson's sign A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign. HP:0030905 Snout reflex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030905 A type of primitive reflex that is elicited by tapping the upper lip lightly. The contraction of the muscles causes the mouth to resemble a snout. HP:0030906 Suck reflex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030906 Persistent nutritive suckle swallow A type of primitive reflex that is elicited by lightly touching or tapping on the lips with an object such as a tongue blade, reflex hammer, or the examiner's finger. At times the reflex is obtained merely by approaching the lips with an object. A positive suck reflex consists of sucking movements by the lips when they are stroked or touched. HP:0005905 Abnormal cervical curvature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005905 UMLS:C3151523 Abnormal neck curve The presence of an abnormal curvature of the cervical vertebral column. HP:0005906 Delayed pneumatization of the mastoid process biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0005906 UMLS:C4021617 Mastoid processes poorly pneumatized An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms. HP:0005900 Fifth metacarpal with ulnar notch biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005900 UMLS:C3276324 Fifth metacarpal notched on ulnar side Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger). HP:0030911 Bifid clitoris biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030911 Two clitorides located side by side. HP:0030912 Duplicated clitoris biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030912 Supernumerary clitoris. HP:0005901 obsolete Chronic recurrent multifocal osteomyelitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005901 HP:0030913 Exaggerated rugosity of the labia majora biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030913 Scrotum-like labia majora Marked rugae formation of the skin of the labia majora. HP:0030918 Low 1-minute APGAR score biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030918 Low one-minute APGAR score HP:0030919 Low 5-minute APGAR score biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030919 Low five-minute APGAR score HP:0030914 Abnormal peristalsis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030914 An anomaly of the wave-like muscle contractions of the digestive tract. HP:0030915 Cerebellar edema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030915 Cerebellar oedema|Edema of the cerebellum|Oedema of the cerebellum Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum. HP:0030917 Low APGAR score biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030917 HP:0005918 Abnormal finger phalanx morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005918 UMLS:C4021614 Abnormality of phalanx of finger|Abnormality of the phalanges|Abnormal form of phalanges of the hand|Abnormality of the phalanges of the hand|Abnormality of the finger bones Abnormalities affecting the phalanx of finger. HP:0005914 Aplasia/Hypoplasia involving the metacarpal bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005914 UMLS:C1836192 Absent or hypoplastic metacarpals|Absent/small long bones of hand|Hypoplastic/absent metacarpal bones|Hypoplastic metacarpals|Aplastic/hypoplastic metacarpals|Hypoplastic/absent metacarpals|Absent/underdeveloped long bones of hand|Metacarpal aplasia/hypoplasia Aplasia or Hypoplasia affecting the metacarpal bones. HP:0005916 Abnormal metacarpal morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005916 UMLS:C4021615 Abnormal shape of metacarpal bones|Abnormal shape of long bones of hand Irregularly shaped metacarpal bones of varying degree. HP:0005917 Supernumerary metacarpal bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005917 SNOMEDCT_US:91846008|UMLS:C0545617 Extra long bones of hand The presence of more than the normal number of metacarpal bones. HP:0030921 5-minute APGAR score of 1 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030921 HP:0005910 Rhomboid or triangular shaped 5th finger middle phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005910 UMLS:C4021616 Rhomboid or triangular shaped fifth finger middle phalanx Rhomboid or triangular shaped 5th (little) finger middle phalanx. HP:0030922 5-minute APGAR score of 2 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030922 HP:0005912 Biliary atresia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005912 UMLS:C0005411|MSH:D001656|SNOMEDCT_US:77480004|SNOMEDCT_US:82821008 Biliary duct atresia Atresia of the biliary tree. HP:0030923 5-minute APGAR score of 3 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030923 HP:0005913 Abnormality of metacarpal epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005913 UMLS:C4025110 Abnormality of end part of long bone of hand HP:0030924 5-minute APGAR score of 4 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030924 HP:0030920 5-minute APGAR score of 0 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030920 HP:0030929 1-minute APGAR score of 2 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030929 HP:0030925 5-minute APGAR score of 5 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030925 HP:0030926 5-minute APGAR score of 6 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030926 HP:0030927 1-minute APGAR score of 0 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030927 HP:0030928 1-minute APGAR score of 1 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030928 HP:0003309 Ovoid thoracolumbar vertebrae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003309 UMLS:C1868556 Ovoid thoracic and lumbar vertebrae HP:0004639 Elevated amniotic fluid alpha-fetoprotein biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004639 UMLS:C1839860 Elevated amniotic fluid alpha-1-fetoprotein|Elevated amniotic fluid alpha fetal protein|Elevated amniotic fluid alpha-fetoglobulin An elevation of alpha-feto protein measured in the amniotic fluid. HP:0003308 Cervical subluxation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003308 UMLS:C1846798 A partial dislocation of one or more intervertebral joints in the cervical vertebral column. HP:0003307 Hyperlordosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003307 UMLS:C0024003|SNOMEDCT_US:249710008|SNOMEDCT_US:61960001|MSH:D008141 Lordosis|Prominent swayback Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine. HP:0004633 Lower thoracic kyphosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004633 UMLS:C1864361 Round mid-back Over curvature of the lower thoracic region, leading to a round back or if sever to a hump. HP:0003302 Spondylolisthesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003302 SNOMEDCT_US:274152003|MSH:D013168|UMLS:C0038016 Spondylolithesis|Displacement of one backbone compared to another|Slipped backbone Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra. HP:0003301 Irregular vertebral endplates biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003301 UMLS:C1842153 endplate irregularity|vertebral endplate irregularity|irregular vertebral plates|Irregular end plates|Irregular endplates|endplate irregularities|end-plate irregularities An irregular surface of the vertebral end plates, which are normally relatively smooth. HP:0004632 Cervical segmentation defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004632 UMLS:C1862415 Cervical spine segmentation defect An abnormality related to a defect of vertebral separation of cervical vertebrae during development. HP:0005967 Mixed respiratory and metabolic acidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005967 UMLS:C1840372 HP:0003300 Ovoid vertebral bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003300 UMLS:C1855665|UMLS:C4020844 Ovoid-shaped vertebral bodies|Oval vertebral bodies|Ovoid vertebrae|Bullet vertebral body When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval. HP:0004631 Decreased cervical spine flexion due to contractures of posterior cervical muscles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004631 UMLS:C4280512|UMLS:C1839653 Inability to touch chin to chest|Contracture of post-cervical muscles HP:0005968 Temperature instability biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005968 UMLS:C3279038|UMLS:C1820737 Temperature instability|Body temperature instability Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature. HP:0004630 Anterior beaking of thoracic vertebrae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004630 UMLS:C4025302 Anterior tongue-like protrusions of thoracic vertebral bodies. HP:0003306 Spinal rigidity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003306 UMLS:C1858025 Rigid spine|Reduced spine movement Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion. HP:0004637 Decreased cervical spine mobility biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004637 UMLS:C1859692 Limited neck movement HP:0005961 Hypoargininemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005961 UMLS:C4025095|UMLS:C1859735 Low blood arginine levels|Arginine deficiency A decreased concentration of arginine in the blood. HP:0003305 Block vertebrae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003305 UMLS:C1844753 Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies). HP:0003304 Spondylolysis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003304 SNOMEDCT_US:240221008|MSH:D013169|UMLS:C0038018 Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma. HP:0004635 Cervical C5/C6 vertebrae fusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004635 UMLS:C4025301 Fusion of the C5 and C6 cervical vertebrae. HP:0005964 Intermittent hypothermia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005964 UMLS:C1837639 Intermittent abnormally low body temperature|Intermittent hypothermia Episodes of reduced body termperature. HP:0004634 Cuboid-shaped vertebral bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004634 UMLS:C2673653 Cuboid vertebral bodies HP:0003319 Abnormality of the cervical spine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003319 UMLS:C1852464 Cervical spine abnormalities|Cervical vertebral abnormalities|Abnormality of the cervical vertebrae|Cervical vertebral anomalies|Disorder of cervical vertebra|Abnormal cervical spine|Abnormality of cervical vertebra Any abnormality of the cervical vertebral column. HP:0003318 Cervical spine hypermobility biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003318 UMLS:C0574967|SNOMEDCT_US:298186005 Cervical spine joint hypermobility HP:0005976 Hyperkalemic metabolic acidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005976 UMLS:C1865880 HP:0005977 Hypochloremic metabolic alkalosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005977 UMLS:C0740895 HP:0003312 Abnormal form of the vertebral bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003312 UMLS:C1839326 Abnormally shaped vertebrae Abnormal morphology of vertebral body. HP:0003311 Hypoplasia of the odontoid process biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003311 UMLS:C1846439 Small odontoid process|Small odontoid peg|Hypoplastic odontoid process|Odontoid hypoplasia Developmental hypoplasia of the dens of the axis. HP:0005978 Type II diabetes mellitus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005978 UMLS:C0011860|SNOMEDCT_US:44054006|MSH:D003924 NIDDM|Type II diabetes|Noninsulin dependent diabetes mellitus|Non-insulin dependent diabetes|Noninsulin-dependent diabetes|Diabetes mellitus, noninsulin-dependent|Type 2 diabetes|Diabetes mellitus type 2|NIDDM diabetes mellitus|Diabetes mellitus Type II|Noninsulin-dependent diabetes mellitus A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia. HP:0003310 Abnormality of the odontoid process biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003310 UMLS:C1864794 Abnormal odontoid process|Abnormal odontoid peg Abnormality of the dens of the axis, which is also known as the odontoid process. HP:0005979 Metabolic ketoacidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005979 UMLS:C1854704|MSH:D007662 Starvation ketoacidosis A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake. HP:0005972 Respiratory acidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005972 MSH:D000142|UMLS:C0001127|SNOMEDCT_US:12326000 Acidosis because of respiratory retention of carbon dioxide. HP:0003316 Butterfly vertebrae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003316 UMLS:C1844752 Anterior rachischisis|Sagittal clefting of vertebrae|Butterfly vertebrae A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray. HP:0005973 Fructose intolerance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005973 SNOMEDCT_US:20052008|UMLS:C0016751|MSH:D005633 Fructose malabsorption Reduced intestinal absorption of fructose. Breath testing after ingestion of fructose has been widely adopted as a standard method of identifying fructose malabsorption and intolerance. A dose of 25 g of fructose dissolved in a 10% solution is generally accepted as the appropriate dose of fructose for clinical use of H2 and CH4 breath testing. High levels of hydrogen in exhaled breath subsequent hours indicate fructose intolerance. Presence of malabsorption and reproduction of symptoms during a breath test provides the best objective evidence and symptom correlation for fructose intolerance. HP:0005974 Episodic ketoacidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005974 UMLS:C1859860 Ketoacidosis, episodic Intermittent episodes of ketoacidosis. HP:0004646 Hypoplasia of the nasal bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004646 UMLS:C4021651 Hypotrophic nasal bone|Small nasal bone|Deficiency of nasal bone|Nasal bone hypoplasia|Underdevelopment of nasal bone|Decreased size of nasal bone Underdevelopment of the nasal bone. HP:0004619 Lumbar kyphoscoliosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004619 UMLS:C1834953 HP:0004618 Sandwich appearance of vertebral bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004618 UMLS:C1850134 HP:0004617 Butterfly vertebral arch biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004617 UMLS:C1861627 Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends. HP:0004616 Cleft vertebral arch biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004616 UMLS:C1859458 Cleft vertebral arches A discontinuity of the vertebral arch, i.e., of the posterior part of a vertebra. HP:0005947 Decreased sensitivity to hypoxemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005947 UMLS:C3806286 Decreased sensitivity to hypoxaemia|Decreased sensitivity to hypoxemia Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration. HP:0005948 Multiple pulmonary cysts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005948 UMLS:C1384901|MSH:C563237 Cystic lung disease|Multiple lung cysts The presence of multiple lung cysts. HP:0005949 Apneic episodes in infancy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005949 UMLS:C3807980 Recurrent episodes of apnea occurring during infancy. HP:0005943 Respiratory arrest biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005943 SNOMEDCT_US:87317003|UMLS:C0162297 Breathing cessation HP:0004611 Anterior concavity of thoracic vertebrae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004611 UMLS:C1839822 Anteriorly concave vertebrae HP:0005944 Bilateral lung agenesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005944 UMLS:C4021610|Fyler:4206 Bilateral pulmonary agenesis|Absent lungs Bilateral lack of development of the lungs. HP:0004610 Lumbar spinal canal stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004610 UMLS:C0158288|SNOMEDCT_US:18347007 Lumbar spinal stenosis|Narrow lumbar spinal canal An abnormal narrowing of the lumbar spinal canal. HP:0005945 Laryngeal obstruction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005945 SNOMEDCT_US:61169001|UMLS:C0264306 Blockage of the upper airway at the level of the larynx often accompanied by respiratory distress. HP:0005946 Ventilator dependence with inability to wean biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005946 UMLS:C4025097 HP:0004614 Spina bifida occulta at S1 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004614 UMLS:C4025304 The closed form of spina bifida with incomplete closure of S1 with intact overlying skin. HP:0005941 Intermittent hyperpnea at rest biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005941 UMLS:C4025098 HP:0005942 Desquamative interstitial pneumonitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005942 UMLS:C0238378|MSH:C562470|SNOMEDCT_US:8549006 Filling of the alveoli with alveolar macrophages|Filling of the alveoli with desquamated epithelial cells|Intra-alveolar accumulation of macrophages Diffuse filling of the distal airsspaces of the lungs, the alveoli, with macrophages. Desquamative interstitial pneumonitis (DIP) is characterized additionally by thickend alveolar septa and by a sparse inflammatory infiltrate that often includes plasma cells and occasional eosinophils. The alveoli are lined by plump cuboidal pneumocytes. Lymphoid aggregates may be present. HP:0004629 Small cervical vertebral bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004629 UMLS:C1851130 Small cervical vertebrae Reduced size of cervical vertebrae. HP:0005959 Impaired gluconeogenesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005959 UMLS:C3279336 Gluconeogenesis impaired An impairment of gluconeogenesis. HP:0004622 Progressive intervertebral space narrowing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004622 UMLS:C1837670 A progressive form of decreased height of the intervertebral disk. HP:0005954 Pulmonary capillary hemangiomatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005954 SNOMEDCT_US:233949008|UMLS:C0340548 Pulmonary hemangiomas HP:0004621 Enlarged vertebral pedicles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004621 UMLS:C4025303 Hyperplastic vertebral pedicles Increased size of the vertebral pedicle. HP:0005956 Anteroposteriorly shortened larynx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005956 UMLS:C3805994 Abnormal shortening of the larynx in the anteroposterior (front to back) axis. HP:0005957 Breathing dysregulation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005957 UMLS:C3808046 HP:0005950 Laryngeal web biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005950 SNOMEDCT_US:297159008|UMLS:C0281890 Laryngeal webs|Partial laryngeal atresia A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords. HP:0004626 Lumbar scoliosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004626 UMLS:C2748518 HP:0005951 Progressive inspiratory stridor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005951 UMLS:C4025096 HP:0004625 Biconvex vertebral bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004625 UMLS:C1866675 Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates. HP:0005952 Decreased pulmonary function biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005952 MSH:D012131|SNOMEDCT_US:80954004|UMLS:C0235063 Impaired lung function|Decreased lung function|Impaired pulmonary function HP:0100248 Hemiballismus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100248 UMLS:C0221169|SNOMEDCT_US:66637005|MSH:D020820 Ballismus 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. HP:0100249 Calcification of muscles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100249 UMLS:C2960760|SNOMEDCT_US:446993003 Skeletal muscle calcinosis Deposition of calcium salts in muscle tissue. HP:0100246 Osteoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100246 MSH:D010016|SNOMEDCT_US:83612000|UMLS:C0029440|NCIT:C3296|SNOMEDCT_US:302858007 Osteomas are bony growths found most commonly on the skull and mandible; however, they may occur in any bone of the body. Osteomas do not usually cause clinical problems and do not become malignant. HP:0100247 Recurrent singultus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100247 UMLS:C0744897|MSH:D006606|SNOMEDCT_US:65958008|UMLS:C0019521 Recurrent hiccup|Hiccups|Recurrent hiccough|Hiccup|Recurrent synchronous diaphragmatic flutter A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc. HP:0100244 Fibrosarcoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100244 MSH:D005354|UMLS:C0016057|SNOMEDCT_US:443250000|SNOMEDCT_US:53654007|NCIT:C6605 A fibroblastic sarcoma is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells. HP:0100245 Desmoid tumors biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100245 SNOMEDCT_US:399994005|SNOMEDCT_US:400055004|NCIT:C3042|SNOMEDCT_US:47284001|MSH:D018222|UMLS:C0079218 Desmoid tumours 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. HP:0100242 Sarcoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100242 NCIT:C9118|UMLS:C1261473|SNOMEDCT_US:424413001|SNOMEDCT_US:269469005|SNOMEDCT_US:424952003|SNOMEDCT_US:2424003|MSH:D012509 Cancer of connective tissue|Malignant connective tissue tumor 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. HP:0100243 Leiomyosarcoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100243 MSH:D007890|UMLS:C0023269|SNOMEDCT_US:51549004|SNOMEDCT_US:443719001|NCIT:C3158 A smooth muscle connective tissue tumor, which is rare type of cancer that is a malignant neoplasm of smooth muscle. When such a neoplasm is benign, it is called a leiomyoma. HP:0100240 Synostosis of joints biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100240 UMLS:C4022183 Fusion of joints|Bony ankylosis The abnormal fusion of neighboring bones across a joint. HP:0100241 Ectopic respiratory mucosa biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100241 UMLS:C4022182 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. HP:0040092 Asymmetry of the shape of the ears biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040092 UMLS:C4022445 Asymmetry of the shape of the ears HP:0040093 Asymmetry of the position of the ears biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040093 UMLS:C4022444 Uneven ears HP:0040090 Abnormality of the tympanic membrane biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040090 UMLS:C4022447 Abnormality of the eardrum An abnormality of the tympanic membrane HP:0040091 Asymmetry of the size of ears biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040091 UMLS:C4022446 Asymmetry of the size of ears HP:0040096 Neoplasm of the inner ear biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040096 UMLS:C1512779|NCIT:C3262 Inner ear tumor A tumor (abnormal growth of tissue) of the inner ear. HP:0040097 Neoplasm of the ceruminal gland biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040097 NCIT:C3262|UMLS:C0334352|SNOMEDCT_US:403945001|SNOMEDCT_US:52707009 Adenoma of the ceruminous gland|Ceruminous adenoma|Ceruminoma A tumor (abnormal growth of tissue) of the ceruminal gland. HP:0040095 Neoplasm of the outer ear biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040095 UMLS:C4022443|NCIT:C3262 Outer ear tumor A tumor (abnormal growth of tissue) of the outer ear. HP:0040098 Basalioma of the outer ear biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040098 UMLS:C4022442 HP:0040099 Abnormality of the round window biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040099 UMLS:C4022441 HP:0100259 Postaxial polydactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100259 MSH:C562429|UMLS:C0220697 Postaxial hexadactyly|Polydactyly, postaxial A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe. HP:0100257 Ectrodactyly biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0100257 MSH:C574275|SNOMEDCT_US:81208006|UMLS:C0265554|SNOMEDCT_US:13624003 Cleft hand|Lobster claw hand A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet. HP:0100258 Preaxial polydactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100258 SNOMEDCT_US:205135003|UMLS:C0345354 Polydactyly, preaxial A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe. HP:0100255 Metaphyseal dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100255 UMLS:C0265294|SNOMEDCT_US:27837003|MSH:C536252 The presence of dysplastic regions in metaphyseal regions. HP:0100256 Senile plaques biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100256 SNOMEDCT_US:38551001|UMLS:C0333463|MSH:D058225 Neuritic plaques|Senile druse|Braindruse Senile plaques are extracellular deposits of amyloid in the gray matter of the brain. HP:0100253 Abnormality of the medullary cavity of the long bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100253 UMLS:C4021027 Abnormality of the marrow cavity of the long bones An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored. HP:0100254 Stenosis of the medullary cavity of the long bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100254 UMLS:C4022179 HP:0100251 Multiple central nervous system lipomas biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100251 UMLS:C4022180|NCIT:C3192 Lipomas of the central nervous system The presence of mulitple lipomas located in the central nervous system. HP:0100252 Diaphyseal dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100252 UMLS:C0011989|MSH:D003966|SNOMEDCT_US:34643004|SNOMEDCT_US:318761000119105 HP:0100250 Meningeal calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100250 UMLS:C4022181 Calcium deposition affecting the Meninges. HP:0100268 Upper lip pit biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100268 UMLS:C4022176 Depression located on the vermilion of the upper lip, usually paramedian. HP:0100269 Paramedian lip pit biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100269 UMLS:C4022175 Paramedian labial pits Depression located paramedially on the vermilion of a lip. HP:0100266 Synostosis of carpals/tarsals biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100266 UMLS:C4021025 Coalescence of carpal and tarsal bones|Wrist bone/ankle bone fusions|Carpal and tarsal fusions|Fusion of carpal and tarsal bones The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, navicular, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus. HP:0100267 Lip pit biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0100267 UMLS:C0341059 A depression located on a lip. HP:0100264 Proximal symphalangism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100264 UMLS:C1861385|MSH:C536223 Cushing's symphalangism HP:0100265 Synostosis of metacarpals/metatarsals biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100265 UMLS:C4022177 Fusion of long bones of hand/long bones of foot HP:0100262 Synostosis involving digits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100262 UMLS:C4022178 Fusion involving digits HP:0100263 Distal symphalangism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100263 UMLS:C1861401|MSH:C566099 Symphalangism, distal HP:0100260 Mesoaxial polydactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100260 UMLS:C1848595|UMLS:C4020689 Insertional polydactyly|Central polydactyly|Intercalary polydactyly The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly. HP:0100261 Abnormal tendon morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100261 UMLS:C4021026 Abnormal shape of tendon|Abnormality of the sinew An abnormality of the structure or form of the tendons, also often called sinews. HP:0100279 Ulcerative colitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100279 SNOMEDCT_US:64766004|UMLS:C0009324|MSH:D003093 Colitis ulcerosa A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon. HP:0100277 Periauricular skin pits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100277 UMLS:C4022171 Periauricular fistulas|Periauricular pits|Pits around the ear|Periauricular sinus|Periauricular earpits Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit. HP:0100275 Diffuse cerebellar atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100275 UMLS:C1854699 Diffuse unlocalised atrophy affecting the cerebellum. HP:0100276 Skin pit biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100276 UMLS:C4022172|UMLS:C4020712 Skin pit|Skin pits A small, skin-lined tract that leads from the surface to deep within the tissues. HP:0100273 Neoplasm of the colon biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100273 SNOMEDCT_US:126838000|MSH:D003110|UMLS:C0009375|NCIT:C3262 Colon tumor HP:0100274 Gustatory lacrimation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100274 UMLS:C1862052 Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal. HP:0100271 Hyponasal speech biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100271 UMLS:C4022173 Hyponasal speech is when there is an abnormally reduced nasal airflow during speech often in a setting of nasal obstruction or congestion. HP:0100272 Branchial sinus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100272 UMLS:C0266624|SNOMEDCT_US:253259008 Branchial cleft sinus A congenital branchial sinus is a remnant of the embryonic branchial arches and their intervening clefts and pouches that has failed to regress completely. Sinuses typically have their external orifice inferior to the ramus of the mandible. They may traverse the parotid gland, and run in close vicinity to the facial nerve in the external auditory canal. HP:0100270 Abnormality of dorsoventral patterning of the limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100270 UMLS:C4022174 An abnormality resulting from a defect or disruption of dorsoventral patterning that normally happens during early development of the limbs. A disruption of the normal development of the dorsoventral axis may lead to a variable spectrum of different phenotypic abnormalities that may affect the nails and or palmar and dorsal side of the hands and/or feet, ultimately changing the normal dorsoventral appearance of the affected limbs. HP:0040059 Calcification of ribs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040059 UMLS:C4022461 HP:0100288 EMG: myokymic discharges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100288 UMLS:C4022166 The presence of spontaneous bursts of rapidly firing potentials that recur at regular intervals of 2-10 per second and are unaffected by voluntary effort. This is an electromyographic (EMG) finding. HP:0100289 Abnormality of pattern reversal visual evoked potentials biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100289 UMLS:C4022165 Abnormality of pattern reversal VEP HP:0100287 EMG: slow motor conduction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100287 UMLS:C4022167 The presence of reduced conduction velocity of motor nerves on electromyography. HP:0100284 EMG: myotonic discharges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100284 UMLS:C4022169 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. HP:0100285 EMG: impaired neuromuscular transmission biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100285 UMLS:C4022168 An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP). HP:0100282 Acute colitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100282 UMLS:C2118460 An acute and self-limited inflammatory disease of the large intestine (colon, cecum and rectum). HP:0100283 EMG: continuous motor unit activity at rest biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100283 UMLS:C4022170 Continuous electromyographic activity of motor units at rest, i.e., without voluntary movement of the muscles. HP:0100280 Crohn's disease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100280 MSH:D003424|UMLS:C0010346|SNOMEDCT_US:34000006 Morbus Crohn|Granulomatous enteritis and colitis A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation. HP:0100281 Chronic colitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100281 UMLS:C0267375|SNOMEDCT_US:54597004 A chronic inflammatory disease of the large intestine (colon, cecum and rectum). HP:0040052 Abnormality of lower eyelashes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040052 UMLS:C4022466 Abnormality of lower eyelashes HP:0040053 Long lower eyelashes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040053 UMLS:C4022465 Increased length of lower eyelashes|Long lower eyelashes|Ciliary trichomegaly of lower eyelashes HP:0040050 Sparse upper eyelashes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040050 UMLS:C4022468 Sparse upper eyelashes|Hypotrichosis of upper eyelashes|Partial absence of upper eyelashes HP:0040051 Abnormality of upper eyelashes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040051 UMLS:C4022467 Abnormality of upper eyelashes HP:0040056 Absent upper eyelashes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040056 UMLS:C4280294|UMLS:C4280255|UMLS:C4022462 Atrichia of upper eyelashes|Agenesis of upper eyelashes|Aplasia of upper eyelashes|Absent upper eyelashes|Failure of development of upper eyelashes HP:0040057 Abnormality of nasal hair biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040057 UMLS:C4021858 Abnormality of nasal hair|Abnormality of nose hair HP:0040054 Short upper eyelashes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040054 UMLS:C4022464 Short upper eyelashes|Decreased length of upper eyelashes HP:0040055 Short lower eyelashes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040055 UMLS:C4022463 Short lower eyelashes|Decreased length of lower eyelashes HP:0040069 Abnormal lower limb bone morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040069 UMLS:C4022457|UMLS:C4022455 Abnormal shape of bones of the lower limbs|Abnormal morphology of bones of the lower limbs|Abnormality of lower limb bone HP:0100299 Muscle fiber inclusion bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100299 UMLS:C4022159 Muscle fibre inclusion bodies HP:0100297 Increased endomysial connective tissue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100297 UMLS:C4022161 An increased volume of the endomysium, which is a connective tissue sheath that surrounds each muscule fiber. Together, bundles of muscle fibers form a fasciculus, surrounded by another layer of connective tissue called the perimysium. HP:0100298 Motheaten muscle fibers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100298 UMLS:C4022160 Motheaten muscle fibres HP:0100295 Muscle fiber atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100295 UMLS:C0333751|SNOMEDCT_US:67867005 Muscle fiber degeneration|Muscle fibre atrophy HP:0100296 Perifascicular muscle fiber atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100296 UMLS:C0333757|SNOMEDCT_US:87196003 Perifascicular muscle fibre atrophy HP:0100293 Muscle fiber hypertrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100293 SNOMEDCT_US:42091004|UMLS:C0333759 Muscle fibre hypertrophy HP:0100291 Abnormality of central somatosensory evoked potentials biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100291 UMLS:C4022163 HP:0100292 Amyloidosis of peripheral nerves biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100292 UMLS:C4022162 The presence of amyloid deposition in the nerves of the peripheral nervous system. HP:0100290 Abnormality of peripheral somatosensory evoked potentials biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100290 UMLS:C4022164 HP:0040063 Decreased adipose tissue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040063 UMLS:C4022459 Decreased fat tissue HP:0040064 Abnormality of limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040064 SNOMEDCT_US:445144002|UMLS:C0239337|UMLS:C4073131 Abnormality of limbs|Dysmelia|Abnormal limbs|Limb anomaly HP:0040061 Osteosclerosis of the radius biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040061 UMLS:C4022460 HP:0040062 Slender radius biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040062 UMLS:C1968813 HP:0040068 Abnormality of limb bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040068 UMLS:C4022456 Abnormality of limb bone HP:0040065 obsolete Abnormal morphology of bones of the upper limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040065 HP:0040066 obsolete Abnormal morphology of bones of the lower limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040066 HP:0040070 Abnormal upper limb bone morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040070 UMLS:C4022454|UMLS:C4022458 Abnormal morphology of bones of the upper limbs|Abnormal shape of bones of the upper limbs|Abnormality of upper limb bone HP:0040071 Abnormal morphology of ulna biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040071 UMLS:C4022453 HP:0040075 Hypopituitarism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040075 UMLS:C0020635|SNOMEDCT_US:74728003|MSH:D007018 HP:0040072 Abnormality of forearm bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040072 UMLS:C4022452 Abnormality of forearm bone HP:0040073 Abnormal forearm bone morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040073 UMLS:C4022451 Abnormal shape of of forearm bone HP:0040078 Axonal degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040078 UMLS:C1837496 HP:0040079 Irregular dentition biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040079 UMLS:C1856765 Irregular teeth HP:0040077 obsolete Abnormal concentration of calcium in blood biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040077 HP:0040081 Abnormal circulating creatine kinase concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040081 UMLS:C4022449 Abnormal circulation phospho-CK concentration|Abnormal circulating CK concentration|Abnormal circulating CPK concentration|Abnormal levels of creatine kinase in blood Any deviation from the normal circulating creatine kinase concentration. HP:0040082 Happy demeanor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040082 UMLS:C1856115 Happy demeanor|Happy demeanour A conspicuously happy disposition with frequent smiling and laughing that may be context-inappropriate or unrelated to context. HP:0040080 Anteverted ears biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040080 UMLS:C1857055 HP:0040085 Abnormal circulating aldosterone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040085 UMLS:C0857898 Abnormal circulating aldosterone|Abnormal plasma aldosterone HP:0040086 Abnormal prolactin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040086 UMLS:C4022448 Abnormal prolactin level HP:0040083 Toe walking biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040083 UMLS:C0427144|SNOMEDCT_US:250018006 Toe walking|Toe-walking HP:0040084 Abnormal circulating renin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040084 UMLS:C4021038 Abnormal plasma renin|Abnormal circulating renin A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions. HP:0040089 Abnormal natural killer cell count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040089 UMLS:C4021036 Abnormality of natural killer cell count|Abnormal natural killer cell count|Abnormal NK cell count|Abnormal number of natural killer cells Any deviation from the normal overall count of natural killer (NK) cells in the circulation or a deviation from the normal distribution of NK cell subtypes. HP:0040087 Abnormal blood folate concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040087 UMLS:C4021037 Abnormal serum folate|Abnormality of folate in blood Any deviation from the normal concentration of folate in the blood circulation. HP:0040088 Abnormal lymphocyte count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040088 SNOMEDCT_US:165534000|UMLS:C0580550 Abnormal lymphocyte count|Abnormal lymphocyte counts|Abnormality of lymphocyte number|Abnormal number of lymphocytes|Abnormal numbers of lymphocytes Any abnormality in the total number of lymphocytes in the blood. HP:0040016 Prominent coccyx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040016 UMLS:C4022490 Prominent tailbone HP:0040017 Protruding coccyx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040017 UMLS:C4022489 Protruding tailbone HP:0040014 Increased mitochondrial number biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040014 UMLS:C4022492 HP:0040015 Increased activity of mitochondrial respiratory chain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040015 UMLS:C4022491 HP:0003070 Elbow ankylosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003070 SNOMEDCT_US:202307002|UMLS:C0409477 HP:0040018 Clinodactyly of hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040018 UMLS:C4022488|UMLS:C4280299 Curvature of big toe HP:0040019 Finger clinodactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040019 UMLS:C0265610|UMLS:C4280298|SNOMEDCT_US:17268007 Curvature of finger HP:0030693 Supratentorial neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030693 SNOMEDCT_US:359619007|SNOMEDCT_US:47598005|MSH:D015173|SNOMEDCT_US:127026004|UMLS:C0038874|UMLS:C0031941|NCIT:C3328|MSH:D010871 Pineal parenchymal tumour|Pineal parenchymal tumor A benign or malignant neoplasm that occurs within the intracranial cavity above the tentorium cerebelli. HP:0030694 Pineal parenchymal cell neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030694 SNOMEDCT_US:47598005|SNOMEDCT_US:359619007|UMLS:C0031941|SNOMEDCT_US:127026004|MSH:D010871 HP:0030690 Gingival cleft biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030690 SNOMEDCT_US:109622003|UMLS:C0426489 A fissure in the gingiva (gums), i.e., the mucosal tissue that lies over the mandible and maxilla. HP:0030691 Divergence nystagmus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030691 UMLS:C4073130 A condition in which both eyes beat outward simultaneously. HP:0030692 Brain neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030692 SNOMEDCT_US:126952004|MSH:D001932|NCIT:C2907|SNOMEDCT_US:254935002|UMLS:C0006118 Brain tumour|Brain tumor A benign or malignant neoplasm that arises from or metastasizes to the brain. HP:0004399 Congenital pyloric atresia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0004399 UMLS:C4025327 Congenital atresia of the pylorus. HP:0003068 Madelung-like forearm deformities biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003068 UMLS:C1851419 HP:0003063 Abnormality of the humerus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003063 UMLS:C4021742 Abnormality of the humeri An abnormality of the humerus (i.e., upper arm bone). HP:0004394 Multiple gastric polyps biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004394 MSH:C562464|SNOMEDCT_US:78809005|SNOMEDCT_US:87252009|UMLS:C0236048 HP:0004392 Prune belly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004392 UMLS:C0033770|MSH:D011535|SNOMEDCT_US:5187006 Prune belly A kind of congenital defect of the anterior abdominal wall in which the intestines are evident through the thin, lax, and protruding abdominal wall in affected infants. HP:0040012 Chromosome breakage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040012 UMLS:C0376628|MSH:D019457 Increased chromosomal breakage rate|Increased chromosomal breakage|High frequency of chromosome breaks in lymphocytes|Multiple chromosomal breaks|Tendency to chromosomal 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. HP:0003067 Madelung deformity biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003067 UMLS:C0152441|MSH:C562398|SNOMEDCT_US:4530000 Madelung wrist deformity An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna. HP:0004398 Peptic ulcer biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004398 UMLS:C0030920|MSH:D010437|SNOMEDCT_US:13200003 Sore in the lining of gastrointestinal tract An ulcer of the gastrointestinal tract. HP:0004397 Ectopic anus biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0004397 UMLS:C0266231|SNOMEDCT_US:5153001 Abnormal anus position|Anus malposition Abnormal displacement or malposition of the anus. HP:0003066 Limited knee extension biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003066 UMLS:C1844690 Limited knee extension Reduced ability to extend (straighten) the knee joint. HP:0040013 Decreased mitochondrial number biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040013 UMLS:C4022493 HP:0003065 Patellar hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003065 UMLS:C1840068 Small patellae|Underdeveloped kneecap|Hypoplastic patellae|Small patella|Small kneecap Underdevelopment of the patella. HP:0004396 Poor appetite biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004396 SNOMEDCT_US:64379006|UMLS:C0232462 Poor appetite|Decreased appetite|No appetite HP:0040010 Small posterior fossa biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040010 UMLS:C4022496 HP:0004395 Malnutrition biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004395 SNOMEDCT_US:65404009|SNOMEDCT_US:248325000|UMLS:C0162429|SNOMEDCT_US:47563007|MSH:D044342|SNOMEDCT_US:2492009|SNOMEDCT_US:70241007 Malnutrition HP:0040011 Flat posterior fossa biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040011 UMLS:C4022495 HP:0040025 Clinodactyly of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040025 UMLS:C4022484|UMLS:C4280295 Curvature of ring finger HP:0003081 Increased urinary potassium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003081 UMLS:C1846351 Increased urinary K|Hyperkaliuresis|Increased urinary potassium An increased concentration of potassium(1+) in the urine. HP:0003080 Hydroxyprolinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003080 UMLS:C0948585 Elevated urinary hydroxyproline An increased concentration of 4-hydroxy-L-proline in the urine. HP:0003079 Defective DNA repair after ultraviolet radiation damage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003079 UMLS:C1968564 HP:0003074 Hyperglycemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003074 UMLS:C0020456|SNOMEDCT_US:80394007|MSH:D006943|SNOMEDCT_US:237598005 High blood sugar|High blood glucose An increased concentration of glucose in the blood. HP:0003073 Hypoalbuminemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003073 SNOMEDCT_US:119247004|UMLS:C0239981|MSH:D034141 Hypoalbuminaemia|Low blood albumin|Low albumin Reduction in the concentration of albumin in the blood. HP:0040020 Radial deviation of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040020 UMLS:C4022487 HP:0003072 Hypercalcemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003072 UMLS:C0020437|SNOMEDCT_US:66931009|MSH:D006934|SNOMEDCT_US:166702002 Hypercalcaemia|Increased calcium in blood|High blood calcium levels An abnormally increased calcium concentration in the blood. HP:0003071 Flattened epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003071 UMLS:C1857527 Flat epiphyses|Flat end part of bone Abnormal flatness (decreased height) of epiphyses. HP:0040023 Clinodactyly of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040023 UMLS:C4280297|UMLS:C1856888 Curvature of thumb HP:0003077 Hyperlipidemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003077 MSH:D006949|SNOMEDCT_US:55822004|UMLS:C0020473 Elevated lipids in blood An elevated lipid concentration in the blood. HP:0040024 Clinodactyly of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040024 UMLS:C4280296|UMLS:C4022485 Curvature of middle finger HP:0040021 Radial deviation of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040021 UMLS:C2168996 HP:0003076 Glycosuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003076 SNOMEDCT_US:45154002|UMLS:C0017979|MSH:D006029 Glucose in urine|Glucosuria An increased concentration of glucose in the urine. HP:0003075 Hypoproteinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003075 MSH:D007019|SNOMEDCT_US:8900005|UMLS:C0020639 Decreased protein levels in blood A decreased concentration of protein in the blood. HP:0040022 Clinodactyly of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040022 UMLS:C4022486 Second finger clinodactyly|Curvature of index finger HP:0040038 obsolete Thin toenail biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040038 HP:0040039 Onycholysis of fingernails biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040039 UMLS:C3553044 Onycholysis of fingernail|Detachment of fingernails HP:0040036 Onychogryposis of fingernail biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040036 UMLS:C4022477 Overgrowth and curving of fingernail Thickened fingernails. HP:0040037 obsolete Thin fingernail (obsolete) biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040037 HP:0003049 Ulnar deviation of the wrist biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003049 UMLS:C0231678|SNOMEDCT_US:43689004 Ulnar deviation of wrists HP:0003048 Radial head subluxation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003048 SNOMEDCT_US:95854004|UMLS:C0149977|SNOMEDCT_US:417109008 Radial subluxation|Radial-head subluxation Partial dislocation of the head of the radius. HP:0004379 Abnormality of alkaline phosphatase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004379 UMLS:C4025328|UMLS:C4020829 Abnormality of ALP level|Alkaline phosphatase abnormal|Abnormality of alkaline phosphatase activity An abnormality of alkaline phosphatase level. HP:0004378 Abnormality of the anus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004378 UMLS:C4025329 Abnormality of the anus Abnormality of the anal canal. HP:0004377 Hematological neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004377 SNOMEDCT_US:269475001|SNOMEDCT_US:129154003|UMLS:C0376545|MSH:D019337 Blood tumor|Haematological neoplasm Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue). HP:0004372 Reduced consciousness/confusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004372 SNOMEDCT_US:3006004|UMLS:C0234428 Disturbances of consciousness|Reduced consciousness/confusion|Lowered consciousness HP:0003041 Humeroradial synostosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003041 UMLS:C2930865|SNOMEDCT_US:205329008|MSH:C535284|UMLS:C1863360 Humeral-radial synostosis|Radiohumeral synostosis of elbow|Fusion of upper and lower arm bones|Synostosis of radius and humerus|Humeral radial synostosis An abnormal osseous union (fusion) between the radius and the humerus. HP:0040030 Chorioretinal hypopigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040030 UMLS:C4022483 HP:0004371 Abnormality of glycosaminoglycan metabolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004371 UMLS:C4025330 Abnormality of glycosaminoglycan metabolism. HP:0003040 Arthropathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003040 UMLS:C0022408|SNOMEDCT_US:399269003|MSH:D007592 Disease of the joints HP:0040031 Chorioretinal hyperpigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040031 UMLS:C4022482 HP:0004370 Abnormality of temperature regulation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004370 MSH:D001832|UMLS:C1832160|UMLS:C0005904 Abnormality of temperature regulation|Poor temperature regulation|Body temperature changes An abnormality of temperature homeostasis. HP:0004376 Neuroblastic tumor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004376 UMLS:C1334953 Neuroblastic tumour A family of tumours arising in the embryonal remnants of the sympathetic nervous system, which includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. HP:0040034 Abnormality of the second metatarsal bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040034 UMLS:C4022479 Abnormality of the 2nd long bone of foot HP:0003045 Abnormal patella morphology biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003045 UMLS:C4021743 Abnormal kneecap|Patellar abnormality|Abnormality of the patella Abnormality of the patella (knee cap). HP:0040035 Abnormality of the fourth metatarsal bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040035 UMLS:C4022478 Abnormality of the 4th long bone of foot HP:0003044 Shoulder flexion contracture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003044 SNOMEDCT_US:202265005|UMLS:C0409336 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. HP:0004375 Neoplasm of the nervous system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004375 NCIT:C3262|MSH:D009423|SNOMEDCT_US:126950007|UMLS:C0027766 Neoplasia of the nervous system|Tumor of the nervous system|Nervous system cancer A tumor (abnormal growth of tissue) of the nervous system. HP:0004374 Hemiplegia/hemiparesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004374 UMLS:C0375206 Paralysis or weakness of one side of body Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength. HP:0040032 Hypoplasia of the upper eyelids biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040032 UMLS:C4022481 Hypotrophic upper eyelid|Short upper eyelid|Small upper eyelid|Decreased size of upper eyelid|Underdevelopment of upper eyelid HP:0003043 Abnormal shoulder morphology biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003043 UMLS:C4025659 Abnormality of the shoulder An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula. HP:0003042 Elbow dislocation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003042 UMLS:C2720437|UMLS:C1403321|UMLS:C1403299|SNOMEDCT_US:125617002|SNOMEDCT_US:417558002 Dislocations of the elbows|Radiohumeral dislocation|Elbow dislocation|Ulnohumeral dislocation|Elbow dislocations|Radiocapitellar dislocation Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet. HP:0004373 Focal dystonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004373 UMLS:C0743332|SNOMEDCT_US:445006008|MSH:D020821 A type of dystonia that is localized to a specific part of the body. HP:0040033 Aplasia/Hypoplasia of the fifth metatarsal bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040033 UMLS:C4022480 Absent/small 5th long bone of foot|Absent/underdeveloped 5th long bone of foot HP:0040049 Macular edema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040049 MSH:D008269|SNOMEDCT_US:37231002|UMLS:C0271051 Macular oedema Thickening of the retina that takes place due to accumulation of fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Macular edema is a common pathological response to a wide variety of ocular insults, most commonly after intraocular (e.g. cataract) surgery or in association with retinal vascular (e.g. diabetic eye disease, retinal vein occlusion) or inflammatory (e.g. uveitis) disease. HP:0040047 Abnormal right hemidiaphragm morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040047 UMLS:C4022470 Abnormality of the right hemidiaphragm HP:0040048 obsolete Aplasia of the left hemidiaphragm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040048 HP:0004390 Hamartomatous polyposis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004390 SNOMEDCT_US:27391005|UMLS:C0334092|UMLS:C3277418 Gastrointestinal hamartoma|Gastrointestinal hamartomatous polyps|Hamartomatous polyps Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture. HP:0003059 Abnormality of the radioulnar joints biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003059 UMLS:C4025658 HP:0004389 Intestinal pseudo-obstruction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004389 SNOMEDCT_US:235825006|MSH:D007418|UMLS:C0021847|SNOMEDCT_US:715201005 Intestinal pseudoobstruction A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded. HP:0004388 Microcolon biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004388 SNOMEDCT_US:18389004|UMLS:C0266200|MSH:C562563|UMLS:C3553395 Microcolon on contrast enema A colon of abnormally small caliber. HP:0003057 Tetraamelia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003057 SNOMEDCT_US:702313004|MSH:C536498|UMLS:C2931216 Tetra-amelia Amelia of all four limbs. HP:0004383 Hypoplastic left heart biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004383 MSH:D018636|SNOMEDCT_US:62067003|UMLS:C0152101 Left ventricular hypoplasia|Underdeveloped left heart|Heart left ventricle hypoplasia Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta. HP:0004382 Mitral valve calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004382 SNOMEDCT_US:473372009|UMLS:C0919718 Abnormal calcification of the mitral valve. HP:0040042 Aplasia of the eccrine sweat glands biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040042 UMLS:C4022475 Absent eccrine sweat glands HP:0003051 Enlarged metaphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003051 UMLS:C1855544 Enlarged wide portion of a long bone Abnormal increase in size of one or more metaphyses. HP:0004381 Supravalvular aortic stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004381 SNOMEDCT_US:268185002|UMLS:C0003499|MSH:D021921|Fyler:1430 A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow. HP:0004380 Aortic valve calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004380 UMLS:C0428791|MSH:C562942|SNOMEDCT_US:250978003 Deposition of calcium salts in the aortic valve. HP:0040040 Toenail onycholysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040040 UMLS:C4022476 Detachment of toenails|Onycholysis of toenails Painless and spontaneous separation of a toenail from the nail bed. HP:0040045 Abnormal hemidiaphragm morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040045 UMLS:C4022472 Abnormality of the hemidiaphragms HP:0004387 Enterocolitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004387 SNOMEDCT_US:43752006|MSH:D004760|UMLS:C0014356 An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine). HP:0040046 Abnormal left hemidiaphragm morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040046 UMLS:C4022471 Abnormality of the left hemidiaphragm HP:0004386 Gastrointestinal inflammation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004386 UMLS:C1535950 GI inflammation|Gastrointestinal inflammation Inflammation of the alimentary part of the gastrointestinal system. HP:0004385 Protracted diarrhea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004385 SNOMEDCT_US:236077008|UMLS:C0473133 Protracted diarrhoea HP:0040043 Hypoplasia of the eccrine sweat glands biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040043 UMLS:C4022474 Underdeveloped major sweat glands HP:0003053 Epiphyseal deformities of tubular bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003053 UMLS:C1854786 HP:0040044 Hypoplasia of the diaphragm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040044 UMLS:C4022473 Underdeveloped diaphragm HP:0004384 Type I truncus arteriosus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004384 UMLS:C1834934|Fyler:0510|Fyler:510 Type 1 truncus arteriosus|Persistent truncus arteriosus type I Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries. HP:0100204 Cone-shaped epiphysis of the distal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100204 UMLS:C4022217 Cone-shaped end part of the outermost bone of the little toe|Cone-shaped end part of the outermost bone of the pinkie toe|Cone-shaped end part of the outermost bone of the pinky toe HP:0100205 Enlarged epiphysis of the distal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100205 UMLS:C4022216 Enlarged end part of the outermost bone of the pinky toe|Enlarged end part of the outermost bone of the pinkie toe|Enlarged end part of the outermost bone of the little toe HP:0100202 Absent epiphysis of the distal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100202 UMLS:C4022219 Absent end part of the outermost bone of the pinky toe|Absent end part of the outermost bone of the pinkie toe|Absent end part of the outermost bone of the little toe HP:0100203 Bracket epiphysis of the distal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100203 UMLS:C4022218 Bracket shaped end part of the outermost bone of the little toe|Bracket shaped end part of the outermost bone of the pinkie toe|Bracket shaped end part of the outermost bone of the pinky toe HP:0100200 Stippling of the epiphysis of the proximal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100200 UMLS:C4022221 Speckled calcifications in the end part of the innermost bone of the 4th toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 4th toe. HP:0100201 Triangular epiphysis of the proximal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100201 UMLS:C4022220 Triangular end part of the innermost bone of the 4th toe HP:0031980 Abnormal urine carboxylic acid level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031980 Any deviation from the normal concentration of a carboxylic acid in the urine. HP:0031981 Elevated urine glycolate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031981 An increased concentration of glycolate in the urine. HP:0030650 Focal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030650 UMLS:C0205234|SNOMEDCT_US:87017008 HP:0030651 Multifocal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030651 UMLS:C0205292|SNOMEDCT_US:524008 HP:0031982 Abnormal putamen morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031982 Any structural anomaly of the putamen, a brain nucleus which together with the caudate nucleus and fundus striati makes up the striatum. HP:0031983 Abnormal pulmonary thoracic imaging finding biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031983 Abnormal chest radiograph finding (lung) This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density. HP:0030652 Vitreous haze biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030652 UMLS:C4073113 Vitreous haze is the obscuration of fundus details by vitreous cells and protein exudation. HP:0030657 Umbilical cord hematoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030657 UMLS:C0269855|SNOMEDCT_US:86256001 Umbilical cord haematoma Bleeding from the vessels of the cord with extravasation of blood into the Wharton jelly surrounding the umbilical cord vessels. HP:0031988 obsolete Muscle spasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031988 HP:0031989 Perioral spasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031989 A sudden involuntary contraction of the musculature surrounding the mouth. HP:0030658 Marginal umbilical cord insertion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030658 SNOMEDCT_US:51519001|UMLS:C0266788 Marginal cord insertion Insertion of the umbilical cord within 2 cm from the placental edge. HP:0030659 Velamentous cord insertion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030659 SNOMEDCT_US:77278008|UMLS:C0266789 Insertion of the umbilical cord into the chorio-amniotic membranes of the placenta. HP:0031984 Esophageal food impaction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031984 A piece of food that has gotten stuck in the esophagus and prevents further swallowing. HP:0030654 Umbilical cord cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030654 UMLS:C4073114 Any cystic lesion associated with the umbilical cord. HP:0031985 Esophageal exudate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031985 An exudate is a mass of fluid and cells that has seeped out of blood vessels or an organ, usually related to inflammation. In the esophagus, exudates usually present as whitish plagues on the surface of the esophageal mucosa. HP:0031986 Polyminimyoclonus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031986 Irregular, small-amplitude myoclonic movements of the hands and/or fingers on keeping outstretched posture (jerky postural tremor). Polyminimyoclonus is stimulus-sensitive and accentuated during voluntary movements. A cortical origin can be demonstrated by back-averaging techniques, and somatosensory evoked potentials (SSEPs) are sometimes giant. HP:0030655 Umbilical cord knot biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030655 UMLS:C0344363|SNOMEDCT_US:237309005 An entwining of a segment of umbilical cord, usually without obstructing fetal circulation and commonly result from fetal slippage through a loop of the cord. HP:0030656 Umbilical vein varix biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030656 UMLS:C4073115 Focal dilation of the umbilical vein. HP:0031987 Diminished ability to concentrate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031987 Lack of concentration|Poor concentration Being unable to focus one's attention or mental effort on a particular object or activity. HP:0100208 Ivory epiphysis of the distal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100208 UMLS:C4022213 Increased bone density of end part of the outermost bone of the pinkie toe|Increased bone density of end part of the outermost bone of the little toe|Increased bone density of end part of the outermost bone of the pinky toe HP:0100209 Pseudoepiphysis of the distal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100209 UMLS:C4022212 HP:0100206 Fragmentation of the epiphysis of the distal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100206 UMLS:C4022215 Fragmentation of the end part of the outermost bone of the pinky toe|Fragmentation of the end part of the outermost bone of the little toe|Fragmentation of the end part of the outermost bone of the pinkie toe HP:0100207 Irregular epiphysis of the distal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100207 UMLS:C4022214 Irregular end part of the outermost bone of the pinky toe|Irregular end part of the outermost bone of the pinkie toe|Irregular end part of the outermost bone of the little toe HP:0100215 Cone-shaped epiphysis of the middle phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100215 UMLS:C4022206 Cone-shaped end part of the middle bone of the pinky toe|Cone-shaped end part of the middle bone of the pinkie toe|Cone-shaped end part of the middle bone of the little toe HP:0100216 Enlarged epiphysis of the middle phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100216 UMLS:C4022205 Enlarged end part of the middle bone of the pinky toe|Enlarged end part of the middle bone of the little toe|Enlarged end part of the middle bone of the pinkie toe HP:0100213 Absent epiphysis of the middle phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100213 UMLS:C4022208 Absent end part of the middle bone of the pinky toe|Absent end part of the middle bone of the pinkie toe|Absent end part of the middle bone of the little toe HP:0100214 Bracket epiphysis of the middle phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100214 UMLS:C4022207 Bracket shaped end part of the middle bone of the pinky toe|Bracket shaped end part of the middle bone of the little toe|Bracket shaped end part of the middle bone of the pinkie toe HP:0100211 Stippling of the epiphysis of the distal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100211 UMLS:C4022210 Speckled calcifications in the end part of the outermost bone of the little toe|Speckled calcifications in the end part of the outermost bone of the pinkie toe|Speckled calcifications in the end part of the outermost bone of the pinky toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 5th toe. HP:0100212 Triangular epiphysis of the distal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100212 UMLS:C4022209 Triangular end part of the outermost bone of the pinky toe|Triangular end part of the outermost bone of the little toe|Triangular end part of the outermost bone of the pinkie toe HP:0100210 Small epiphysis of the distal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100210 UMLS:C4022211 Small end part of the outermost bone of the pinkie toe|Small end part of the outermost bone of the little toe|Small end part of the outermost bone of the pinky toe HP:0031991 Increased urinary excretion of galactosyl hydroxylysine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031991 An increased concentration of beta-1-galactosyl-O-hydroxylysine (Gal-Hyl) in the urine. This is a biochemical marker of bone resorption. HP:0030660 Furcate cord insertion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030660 UMLS:C4073116 Branching of the umbilical cord before its insertion into the placenta. HP:0030661 Vitreous snowballs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030661 SNOMEDCT_US:417393008|UMLS:C1563272 Yellow-white inflammatory aggregates in the vitreous that are found in the midvitreous and inferior periphery. HP:0031992 Apical hypertrophic cardiomyopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031992 Apical hypertrophic cardiomyopathy (AHCM) is diastolic dysfunction due to abnormal stiffness of the left ventricle during diastole, with resultant impaired ventricular filling. In AHCM thickened apical segments produce a crowded, spade-shaped, small apical cavity. HP:0031993 Hoffmann sign biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031993 A Hoffman test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test. HP:0030662 Vitreous inflammatory cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030662 UMLS:C4073117 The presence of inflammatory cells such as lymphocytes and macrophages in the vitreous. HP:0030663 Optically empty vitreous biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030663 UMLS:C4073118 Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernable gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity. HP:0031994 Bronchial breath sound biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031994 Bronchial breath sounds contain much higher frequency components than normal breath sounds due to alteration of the low pass filtering function of the alveoli, as occurs in consolidation. It is loud, hollow, and high pitch. Expiratory phase is longer than inspiratory phase with the inspiratory-expiratory ratio (I:E) changing from normal 3:1 to 1:2. There is distinct pause between inspiration and expiration due to absent alveolar phase. It is associated with whispering pectoriloquy. HP:0031990 Chvostek sign biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031990 A contraction of ipsilateral facial muscles subsequent to percussion over the facial nerve. HP:0031999 Expiratory crackles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031999 Crackles that occur during expiration. HP:0030668 Periorbital dermoid cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030668 UMLS:C4073119 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. HP:0030669 Abnormal ocular adnexa morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030669 UMLS:C4073120 A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. HP:0031995 Squawks biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031995 Squawks are short inspiratory wheezes of less than 200 ms duration and are also known as squeaks. Acoustic analysis shows the fundamental frequency varying between 200 and 300 Hz. Squawks usually occur in late inspiration and are often preceded by late inspiratory crackles. HP:0030664 Beevor's sign biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030664 SNOMEDCT_US:61282003|UMLS:C0231616 Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus. HP:0031996 Inspiratory crackles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031996 Crackles that are heard during the inspiratory phase. HP:0030665 Rubral tremor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030665 UMLS:C0750940|MSH:D001259 Holmes' tremor Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements. HP:0030666 Retinal neovascularization biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030666 UMLS:C0035320|MSH:D015861|SNOMEDCT_US:61267008 Retinal neovascularisation In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment. HP:0031997 Early inspiratory crackles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031997 Crackles that appear at the beginning of inspiration and end before mid-inspiration. HP:0031998 Late inspiratory crackles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031998 Crackles that appear any time after the beginning of inspiration and last till the end of inspiration. HP:0030667 Peripheral retinal neovascularization biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030667 SNOMEDCT_US:247100001|UMLS:C0474355 A type of retinal neovascularization that affects the periphery of the retina. HP:0100219 Ivory epiphysis of the middle phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100219 UMLS:C4022202 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 little toe|Increased bone density of end part of the middle bone of the pinkie toe HP:0100217 Fragmentation of the epiphysis of the middle phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100217 UMLS:C4022204 Fragmentation of the end part of the middle bone of the pinky toe|Fragmentation of the end part of the middle bone of the little toe|Fragmentation of the end part of the middle bone of the pinkie toe HP:0100218 Irregular epiphysis of the middle phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100218 UMLS:C4022203 Irregular end part of the middle bone of the pinky toe|Irregular end part of the middle bone of the pinkie toe|Irregular end part of the middle bone of the little toe HP:0100226 Cone-shaped epiphysis of the proximal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100226 UMLS:C4022195 Cone-shaped end part of the innermost bone of the pinkie toe|Cone-shaped end part of the innermost bone of the little toe|Cone-shaped end part of the innermost bone of the pinky toe HP:0100227 Enlarged epiphysis of the proximal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100227 UMLS:C4022194 Enlarged end part of the innermost bone of the pinkie toe|Enlarged end part of the innermost bone of the little toe|Enlarged end part of the innermost bone of the pinky toe HP:0100224 Absent epiphysis of the proximal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100224 UMLS:C4022197 Absent end part of the innermost bone of the pinky toe|Absent end part of the innermost bone of the little toe|Absent end part of the innermost bone of the pinkie toe HP:0100225 Bracket epiphysis of the proximal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100225 UMLS:C4022196 Bracket shaped end part of the innermost bone of the pinky toe|Bracket shaped end part of the innermost bone of the pinkie toe|Bracket shaped end part of the innermost bone of the little toe HP:0100222 Stippling of the epiphysis of the middle phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100222 UMLS:C4022199 Speckled calcifications in middle part of the innermost bone of the little toe|Speckled calcifications in middle part of the innermost bone of the pinky toe|Speckled calcifications in end part of the innermost bone of the pinkie toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 5th toe. HP:0100223 Triangular epiphysis of the middle phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100223 UMLS:C4022198 Triangular end part of the middle bone of the pinky toe|Triangular end part of the middle bone of the little toe|Triangular end part of the middle bone of the pinkie toe HP:0003091 Trophic limb changes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003091 UMLS:C4025657 Trophic changes occurring in a limb. HP:0100220 Pseudoepiphysis of the middle phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100220 UMLS:C4022201 HP:0003090 Hypoplasia of the capital femoral epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003090 UMLS:C1839254 Small innermost thighbone end part|Underdevelopment of the innermost thighbone end part|Small femoral capital epiphyses|Small capital femoral epiphyses|Small proximal femoral epiphyses Underdevelopment of the proximal epiphysis of the femur. HP:0100221 Small epiphysis of the middle phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100221 UMLS:C4022200 Small end part of the middle bone of the pinky toe|Small end part of the middle bone of the pinkie toe|Small end part of the middle bone of the little toe HP:0030671 Abnormal common tendinous ring morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030671 UMLS:C4073122 Abnormality of the common tendinous ring Any anomaly of the ring of fibrous tissue that surrounds the optic nerve at its entrance at the apex of the orbit. The common tendinous ring, also known as the annulus of Zinn or annular tendon, is the origin for five of the seven extraocular muscles. HP:0030672 Asteroid hyalosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030672 UMLS:C0521770|SNOMEDCT_US:95800001 The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits. HP:0030673 Erosive vitreoretinopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030673 SNOMEDCT_US:232064001|UMLS:C1840452|MSH:C536075 A form of vitreoretinopathy characterized by thinning (erosion) of the retinal pigment epithelium that permits increased visualization of the choroidal vessels. HP:0030674 Antenatal onset biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030674 UMLS:C2673646 Onset prior to birth. HP:0030670 Hamartoma of the orbital region biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030670 UMLS:C4073121 A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the orbital region. HP:0030679 Ash-leaf spot biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030679 UMLS:C4073125 A hypopigmented spot in the shape of a leaf from the mountain ash tree. HP:0030675 Contracture of proximal interphalangeal joints of 2nd-5th fingers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030675 UMLS:C4073123 Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd, 3rd, 4th, and 5th fingers due to structural changes in non-bony tissue. HP:0030676 Satyr ear biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030676 UMLS:C4048833 Devil ear Sharp pointed superior portion of the ear, with variable overfolding of the helix. HP:0030677 Mozart ear biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030677 UMLS:C4073124 A congenital auricular deformity, which is mainly characterized by a bulging appearance of the anterosuperior portion of the auricle, a convexly protruded cavum conchae, and a slit-like narrowing of the orifice of the external auditory meatus. HP:0003085 Long fibula biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003085 UMLS:C1848109 Disproportionately long fibula|Long calf bone|Long fibula Disproportionately long fibulae. HP:0003084 Fractures of the long bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003084 UMLS:C0240231 Increased long bone fracture rate An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna). HP:0003083 Dislocated radial head biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003083 UMLS:C0265563|SNOMEDCT_US:9634000 Radial head dislocation/subluxation|Dislocation of the radial head|Radial dislocation|Dislocated radius|Dislocated radial heads|Dislocation of radial head|Congenital radial head dislocation|Radial head dislocation A dislocation of the head of the radius from its socket in the elbow joint. HP:0003089 Hamstring contractures biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003089 SNOMEDCT_US:203074005|UMLS:C0410266 Hamstring contractures HP:0003088 Premature osteoarthritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003088 UMLS:C1835121 Premature arthritis|Premature osteoarthritis HP:0100228 Fragmentation of the epiphysis of the proximal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100228 UMLS:C4022193 Fragmentation of the end part of the innermost bone of the pinky toe|Fragmentation of the end part of the innermost bone of the pinkie toe|Fragmentation of the end part of the innermost bone of the little toe HP:0100229 Irregular epiphysis of the proximal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100229 UMLS:C4022192 Irregular end part of the innermost bone of the pinky toe|Irregular end part of the innermost bone of the little toe|Irregular end part of the innermost bone of the pinkie toe HP:0003086 Acromesomelia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003086 UMLS:C1864365 Small hands and feet. HP:0100237 Proximal foot symphalangism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100237 UMLS:C4022185 HP:0040006 Mortality/Aging biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040006 UMLS:C4022499 HP:0100238 Synostosis involving bones of the upper limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100238 UMLS:C4022184 Fusion involving bones of the upper limbs An abnormal union between bones or parts of bones of the upper limbs. HP:0100235 Synostosis involving bones of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100235 UMLS:C4022186 Fusion involving bones of the toes HP:0040004 Abnormality of corneal shape biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040004 UMLS:C4022500 HP:0100233 Stippling of the epiphysis of the proximal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100233 UMLS:C4022188 Speckled calcifications in the end part of the innermost bone of the pinky toe|Speckled calcifications in the end part of the innermost bone of the pinkie toe|Speckled calcifications in the end part of the innermost bone of the little toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 5th toe. HP:0040009 Hyperparakeratosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040009 SNOMEDCT_US:125554003|UMLS:C1265968 Abnormal keratinization of the epidermal stratum coreum (horny layer) with increased keratin formation, preservation of the nuclei in the superficial cells, and absence of the stratum granulosum. HP:0100234 Triangular epiphysis of the proximal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100234 UMLS:C4022187 Triangular end part of the innermost bone of the pinky toe|Triangular end part of the innermost bone of the pinkie toe|Triangular end part of the innermost bone of the little toe HP:0100231 Pseudoepiphysis of the proximal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100231 UMLS:C4022190 HP:0040007 Absent pigmentation of chest biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040007 UMLS:C4022498 Lack of skin coloring on chest Lack of skin pigmentation (coloring) of the chest. HP:0040008 Aplasia of facial bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040008 UMLS:C4280300|UMLS:C4022497|UMLS:C4280301|UMLS:C1385254 Aplasia of facial skeleton|Missing facial bones|Agenesis of facial bones|Absence of facial bones|Failure of development of facial skeleton|Failure of development of facial bones HP:0100232 Small epiphysis of the proximal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100232 UMLS:C4022189 Small end part of the innermost bone of the pinky toe|Small end part of the innermost bone of the pinkie toe|Small end part of the innermost bone of the little toe HP:0030682 Left ventricular noncompaction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030682 UMLS:C1960469 Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer. HP:0030683 Vaginitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030683 SNOMEDCT_US:30800001|MSH:D014627|UMLS:C0042267 Vulvovaginitis Inflammation of the vagina that can result from a spectrum of conditions that cause vaginal and sometimes vulvar symptoms, such as itching, burning, irritation, odor, and vaginal discharge. HP:0100230 Ivory epiphysis of the proximal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100230 UMLS:C4022191 Increased bone density of end part of the innermost bone of the pinky toe|Increased bone density of end part of the innermost bone of the pinkie toe|Increased bone density of end part of the innermost bone of the little toe HP:0030684 Abnormal adiponectin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030684 UMLS:C4073126 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. HP:0030685 Decreased adiponectin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030685 UMLS:C4073127 A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue. HP:0030680 Abnormality of cardiovascular system morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030680 UMLS:C4049796 Cardiovascular malformations Any structural anomaly of the heart and great vessels. HP:0030681 Abnormal morphology of myocardial trabeculae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030681 UMLS:C4073289 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). HP:0030686 Increased adiponectin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030686 UMLS:C4073128 An elevated circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue. HP:0030687 Abnormal glucagon level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030687 UMLS:C4073129 A deviation from the normal concentration of glucagon in the blood circulation. HP:0030688 Increased glucagon level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030688 UMLS:C1295677|SNOMEDCT_US:131106002 An elevated concentration of glucagon in the blood circulation. HP:0030689 Decreased glucagon level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030689 UMLS:C1295678|SNOMEDCT_US:131107006 A reduced concentration of glucagon in the blood circulation. HP:0003095 Septic arthritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003095 MSH:D001170|UMLS:C0003869|SNOMEDCT_US:372939007|SNOMEDCT_US:396234004|UMLS:C4280547 Infected joint HP:0003093 Limited hip extension biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003093 UMLS:C3553368 Restricted hip extension|Limited hip extension Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward. HP:0003099 Fibular overgrowth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003099 UMLS:C1864298 Overgrowth of calf bone Relatively increased growth of the fibula compared to that of the tibia. HP:0003097 Short femur biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003097 SNOMEDCT_US:93255008|UMLS:C0345375 Femoral hypoplasia|Hypoplasia of the femora|Short femurs|Short thighbone An abnormal shortening of the femur. HP:0004319 Decreased circulating aldosterone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004319 UMLS:C0020595|UMLS:C0857899|SNOMEDCT_US:60086000|MSH:D006994|UMLS:C1846226 Decreased serum aldosterone|Decreased aldosterone|Mineralocorticoid insufficiency|Low blood aldosterone level|Hypoaldosteronism|Decreased aldosterone production Abnormally reduced levels of aldosterone. HP:0006977 Grammar-specific speech disorder biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006977 UMLS:C4024956 Grammar-specific speech disorder HP:0030613 Abnormal foveal morphology on macular OCT biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030613 UMLS:C4073083 HP:0031944 Pleural thickening biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031944 An increase in the thickness of the pleura, generally related to scarring of the pleural tissue. HP:0030614 Foveal photoreceptor layer loss on macular OCT biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030614 UMLS:C4073084 HP:0004313 Decreased circulating antibody level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004313 UMLS:C4048270|SNOMEDCT_US:119250001|UMLS:C0086438|MSH:D000361 Decreased antibody level in blood|Reduced immunoglobulin levels|Immunoglobulin deficiency|Decreased serum immunoglobulin|Decreased immunoglobulin level|Hypogammaglobulinemia An abnormally decreased level of immunoglobulin in blood. HP:0006978 Dysmyelinating leukodystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006978 UMLS:C3278204 HP:0031945 Elevated N,N-dimethylglycine level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031945 An increased concentration of N,N-dimethylglycine in the circulation. HP:0004312 Abnormal reticulocyte morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004312 UMLS:C4025358 Abnormality of reticulocytes A reticulocyte abnormality. HP:0030615 Foveal photoreceptor outer segment loss on macular OCT biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030615 UMLS:C4073085 HP:0031946 Elevated urinary N,N-dimethylglycine level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031946 An increased concentration of N,N-dimethylglycine in the urine. HP:0006979 Sleep-wake cycle disturbance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006979 UMLS:C1833362 Sleep-wake cycle disturbance Any abnormal alteration of an individual's circadian rhythm that affects the timing of sleeping and being awake. HP:0005648 Bilateral ulnar hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005648 UMLS:C4025166 Underdevelopment of the ulna on both sides. HP:0030616 Foveal retinal pigment epithelial loss on macular OCT biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030616 UMLS:C4073086 HP:0004311 Abnormal macrophage morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004311 UMLS:C4021661 Abnormality of macrophages|Abnormality of histiocytes An abnormality of macrophages. HP:0031947 Tongue tremor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031947 Jerky movements of the tongue An unintentional, oscillating to-and-fro muscle movement affecting the tongue. HP:0005643 Short 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005643 UMLS:C4021628 Brachydactyly of third toes|Short third toe|Short 3rd toe Underdevelopment (hypoplasia) of the third toe. HP:0031941 Abnormal portal venous system morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031941 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. HP:0030610 Photoreceptor outer segment loss on macular OCT biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030610 UMLS:C4073080 HP:0031942 Congenital absence of portal vein biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031942 Missing portal vein|CAPV Anomaly where the intestinal and the splenic venous drainage bypass the liver and drain into systemic veins through other possible venous shunts. HP:0030611 Retinal pigment epithelial loss on macular OCT biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030611 UMLS:C4073081 HP:0006976 Necrotizing encephalopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006976 UMLS:C1396481 A type of encephalopathy (brain disease, damage, or malfunction accompanied by an altered mental state) that is characterized by evidence of necrosis of brain tissue. HP:0004315 Decreased circulating IgG level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004315 SNOMEDCT_US:190981001|UMLS:C0162539|SNOMEDCT_US:123785006|MSH:D017099 Decreased immunoglobulin G|Decreased IgG level in blood|Reduced IgG levels|IgG deficiency|Decreased gamma-globin expression|Decreased IgG level|Decreased serum IgG An abnormally decreased level of immunoglobulin G (IgG) in blood. HP:0005645 Intervertebral disk calcification biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0005645 UMLS:C0410607|SNOMEDCT_US:240211000 Multiple intervertebral disk calcifications|Intervertebral disc calcification The presence of abnormal calcium deposition of the intervertebral disk. HP:0031943 Akathisia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031943 A state of motor restlessness, usually in the lower extremities, that is often but not always accompanied by a subjective sense of inner restlessness, an urge to move, and anxiety or dysphoria. HP:0030612 Abnormal retinal morphology on macular OCT biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030612 UMLS:C4073082 HP:0006970 Periventricular leukomalacia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006970 MSH:D007969|UMLS:C0023529|SNOMEDCT_US:230769007 HP:0005640 Abnormal vertebral segmentation and fusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005640 UMLS:C4025167 HP:0031948 Snowball lesion of corpus callosum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031948 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. HP:0030617 Abnormal OCT-measured foveal thickness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030617 UMLS:C4073087 HP:0031949 Recurrent bacterial upper respiratory tract infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031949 Recurrent bacterial URI An increased susceptibility to bacterial upper respiratory tract infections as manifested by a history of recurrent bacterial upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). HP:0030618 Increased OCT-measured foveal thickness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030618 UMLS:C4073088 HP:0030619 Reduced OCT-measured foveal thickness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030619 UMLS:C4073089 HP:0031950 Usual interstitial pneumonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031950 Temporal and spatial heterogeneity in lungs based on presence of fibrosis and honeycombing. HP:0030624 Subretinal hyporeflective spaces on macular OCT biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030624 UMLS:C4073094 HP:0006988 Alobar holoprosencephaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006988 UMLS:C0431363|MSH:D016142|SNOMEDCT_US:253137003 A type of holoprosencephaly characterized by the presence of a single ventricle and no separation of the cerebral hemisphere. The single midline ventricle is often greatly enlarged. HP:0004325 Decreased body weight biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004325 UMLS:C1262477|UMLS:C1844806|SNOMEDCT_US:262285001|MSH:D015431|MSH:D013851|UMLS:C0041667|SNOMEDCT_US:89362005|SNOMEDCT_US:248342006|SNOMEDCT_US:161832001 Decreased weight|Low body weight|Decreased body weight|Low weight|Weight less than 3rd percentile Abnormally low body weight. HP:0031955 Antalgic gait biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031955 Limp To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position. HP:0031956 Elevated serum aspartate aminotransferase biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031956 Elevated serum glutamic oxaloacetic transaminase|Aspartate aminotransferase increased|Elevated serum AST An abnormally high concentration in the circulation of aspartate aminotransferase (AST). HP:0006989 Dysplastic corpus callosum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006989 UMLS:C0431369 Dysgenesis of corpus callosum|Dysplasia of corpus callosum Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium. HP:0030625 Hyporeflective spaces on macular OCT biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030625 UMLS:C4073095 HP:0004324 Increased body weight biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004324 MSH:D015430|SNOMEDCT_US:161831008|SNOMEDCT_US:8943002|SNOMEDCT_US:262286000|UMLS:C0043094 Increased body weight|Weight gain Abnormally increased body weight. HP:0004323 Abnormality of body weight biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004323 UMLS:C4025357|UMLS:C0878621 Abnormality of habitus|Abnormality of body weight An abnormal increase or decrease of weight or an abnormal distribution of mass in the body. HP:0030626 Foveal intraretinal hyporeflective spaces on macular OCT biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030626 UMLS:C4073096 HP:0031957 Spastic hemiparetic gait biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031957 Wernicke-Mann gait Spastic hemiparesis is characterized by a dominance of the tonus in the upper limb flexor muscles: the arm is held in an adducted posture and is bent and rotated inwards, the forearm is pronated and the hand and the fingers are flexed. The leg is slightly bent at the hip, the knee cannot be extended fully at the end of the stance phase and the foot is inverted and in a plantar flexed position. Gait is slow, with a wide base and asymmetrical with a shortened weight-bearing phase on the paretic side. During the swing phase, the paretic leg performs a lateral movement (circumduction) which is characteristic of this gait disorder, also termed Wernicke-Mann gait. Spastic gait problems typically worsen on attempts to walk faster. HP:0005659 Thoracic kyphoscoliosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005659 UMLS:C4015465 HP:0004322 Short stature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004322 UMLS:C0349588|SNOMEDCT_US:237836003 Stature below 3rd percentile|Short stature|Small stature|Height less than 3rd percentile|Decreased body height 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). HP:0030627 Foveal hyporeflective spaces on macular OCT biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030627 UMLS:C4073097 HP:0031958 Spastic paraparetic gait biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031958 A type of spastic gait in which the legs are usually slightly bent at the hip and in an adducted position. The knees are extended or slightly bent and the feet are in a plantar flexion position. This posture requires circumduction of the legs during walking. The gait may appear stiff (spastic gait disorder) or stiff as well as insecure (spastic ataxic gait disorder). In spastic paraparetic gait, each leg appears to be dragged forward. If the muscle tone in the adductors is marked, the resulting gait disorder is referred to as scissor gait. HP:0004329 Abnormal posterior eye segment morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004329 UMLS:C4025354 Abnormality of the posterior segment of the globe|Abnormality of the posterior segment of the eye|Abnormality of the posterior segment of the eyeball|Abnormal morphology of the posterior segment of the globe HP:0031951 Nocturnal seizures biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031951 Sleep seizures Seizures that occur while the affected individual is sleeping. HP:0006984 Distal sensory loss of all modalities biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006984 UMLS:C1836527 HP:0005653 Moderate generalized osteoporosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005653 UMLS:C4025163 Moderate generalised osteoporosis Moderate osteoporosis. HP:0030620 Inner retinal layer loss on macular OCT biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030620 UMLS:C4073090 HP:0004328 Abnormal anterior eye segment morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004328 UMLS:C4025355 Abnormal anterior segment morphology|Abnormality of the anterior segment of the eye|Abnormality of the anterior segment of the globe|Abnormality of the anterior segment of the eyeball 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). HP:0030621 Foveal inner retinal layer loss on macular OCT biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030621 UMLS:C4073091 HP:0031952 Neurogenic claudication biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031952 Lumbar spinal stenoses may induce symptoms following an individually typical latency on standing or when walking due to swelling of the cauda equina, which leads to compression. This is referred to as neurogenic claudication. The symptoms of lumbar spinal stenosis can be explained by an increase in lumbar lordosis and spinal canal stenosis in an upright position compared to the sitting position or if spondylolisthesis is present by a shift of the vertebrae while standing and walking. Following an individually characteristic distance, walking becomes associated with deep muscular pain and with neurological deficits, such as sensory deficits and paresis in the lower limbs, which resolve within minutes when the affected person sits or lies down. Activities performed in a flexed posture, such as cycling often cause less problems than walking. For the same reason, walking uphill may be tolerated better than walking downhill. Clinical neurological examination at rest may be entirely normal but there is usually pain on hyperextension of the lumbar spine. HP:0004327 Abnormal vitreous humor morphology biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0004327 UMLS:C4025356 Abnormal vitreous humour morphology Any structural anomaly of the vitreous body. HP:0005655 Multiple digital exostoses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005655 UMLS:C4025162 Multiple exostoses originating in the fingers and toes. HP:0006986 Upper limb spasticity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006986 SNOMEDCT_US:394680009|UMLS:C1273957 Uncontrollable movement in upper arms HP:0031953 Cautious gait biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031953 Senile gait Cautious gait refers to an excessive degree of age-related changes in walking and fear of falling. The walking difficulties seem out of proportion when considering the patient's actual sensory or motor deficits. The gait appears slow, with a wider base than normal, reduced arm swing bilaterally and a slightly stooped posture. This type of gait change often occurs after the first time a patient has fallen. HP:0030622 Abnormal foveal pit on macular OCT biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030622 UMLS:C4073092 HP:0004326 Cachexia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004326 UMLS:C0006625|MSH:D002100|SNOMEDCT_US:238108007|SNOMEDCT_US:285384003 Wasting syndrome Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease. HP:0005656 Positional foot deformity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005656 UMLS:C4025161 A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies. HP:0031954 Dystonic gait biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031954 Dystonic gait disorders frequently appear bizarre, particularly because activity increases dystonic tonus and posture. The abnormal posture of the foot in dystonic gait typically involves inversion, plantar flexion and tonic extension of the big toe. In many patients complex types of walking, such as walking backwards and running are paradoxically less impaired than walking forward and may seem completely unaffected. Sensory tricks, for instance, if the affected individual rests a hand on his or her neck, may improve or even normalize dystonic gait in some patients. HP:0030623 Intraretinal hyporeflective spaces on macular OCT biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030623 UMLS:C4073093 HP:0006980 Progressive leukoencephalopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006980 UMLS:C1855010 Leukoencephalopathy, progressive Leukoencephalopathy that gets more severe with time. HP:0005650 Cutaneous syndactyly between fingers 2 and 5 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005650 UMLS:C4025165 A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints. HP:0005652 Cortical sclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005652 UMLS:C4025164 Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity. HP:0006983 Slowly progressive spastic quadriparesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006983 UMLS:C4024955 HP:0031959 Leg dystonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031959 A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the legs. HP:0004321 Bladder fistula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004321 MSH:D001747|UMLS:C0005690|SNOMEDCT_US:68666001 The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin. HP:0030628 Foveal subretinal hyporeflective spaces on macular OCT biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030628 UMLS:C4073098 HP:0004320 Vaginal fistula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004320 MSH:D014624|UMLS:C0042253|SNOMEDCT_US:45135002 The presence of a fistula of the vagina. HP:0030629 Perifoveal ring of hyperautofluorescence biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030629 UMLS:C4073099 HP:0031960 Arm dystonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031960 A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms. HP:0031961 Abnormal serum anion gap biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031961 Any deviation from the normal value of the serum anion gap, which is calculated from the electrolytes measured in the chemical laboratory, is defined as the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration. HP:0030630 Irregular central macular autofluorescence biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030630 UMLS:C4073100 HP:0006959 Proximal spinal muscular atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006959 UMLS:C4024957 Proximal spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. HP:0006955 Olivopontocerebellar hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006955 UMLS:C1859341 Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus. HP:0030635 Retinal dystrophy with early macular involvement biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030635 UMLS:C4049066 HP:0006956 Dilation of lateral ventricles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006956 UMLS:C1856409 Lateral ventricle dilatation|Enlarged lateral ventricles|Dilatation of lateral cerebral ventricles HP:0005625 Osteoporosis of vertebrae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005625 UMLS:C4025170 Osteoporosis affecting predominantly the vertebrae. HP:0031967 Cloudy urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031967 Turbid urine The appearance of the urine having visible material in suspension, i.e., appearing cloudy. HP:0030636 Occult macular dystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030636 Occult macular dystrophy is a, typically hereditary, abnormality of the macula associated with progressive foveal cone dysfunction and no apparent fundoscopic, full-field electroretinogram (ERG), or fluorescein angiogram abnormalities. HP:0030637 Congenital stationary cone dysfunction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030637 UMLS:C0543968 Cone dysfunction syndrome|Cone dysfunction Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia. HP:0006957 Loss of ability to walk biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006957 UMLS:C1849097 Loss of ability to walk HP:0005626 Posterior fusion of lumbosacral vertebrae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005626 UMLS:C4025169 Bony fusion of the posterior part of the L5 vertebral body with the sacrum. HP:0005627 Type D brachydactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005627 MSH:C562420|UMLS:C0220664 Brachydactyly type D This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes. HP:0006958 Abnormal auditory evoked potentials biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006958 SNOMEDCT_US:102971006|UMLS:C0522216 Abnormal brainstem auditory-evoked potentials An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex. HP:0030638 Congenital stationary night blindness with normal fundus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030638 UMLS:C4073105 HP:0031969 Reduced blood urea nitrogen biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031969 Reduced BUN An abnormally low concentration of urea nitrogen in the blood. HP:0031962 Elevated serum anion gap biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031962 An abnormally high value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration). HP:0005620 Hypermobility of interphalangeal joints biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005620 UMLS:C4025172 Increased mobility of hinge joints The ability of the interphalangeal joints to move beyond their normal range of motion. HP:0006951 Retrocerebellar cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006951 UMLS:C1845370 HP:0030631 Hyperautofluorescent macular lesion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030631 UMLS:C4073101 Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging. HP:0031963 Decreased serum anion gap biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031963 An abnormally low value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration). HP:0005621 Trapezoidal shaped vertebral bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005621 UMLS:C4025171 HP:0030632 Hypoautofluorescent macular lesion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030632 UMLS:C4073102 Hypo-autofluorescent macular lesion Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging. HP:0005622 Broad long bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005622 UMLS:C4021630 Broad long bones|Widened long bones|Wide 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. HP:0031964 Elevated serum alanine aminotransferase biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031964 Elevated serum ALT|Alanine aminotransferase increased|Elevated serum glutamic-pyruvic transaminase An abnormally high concentration in the circulation of alanine aminotransferase (ALT), which is an enzyme that catalyzes the transfer of amino groups to form the hepatic metabolite oxaloacetate. ALT is found abundantly in the cytosol of the hepatocyte. ALT activity in the liver is about 3000 times that of serum activity. Thus, in the case of hepatocellular injury or death, release of ALT from damaged liver cells increases measured ALT activity in the serum. Although it is generally thought to be specific to the liver, it is also found in the kidney, and, in much smaller quantities, in heart and skeletal muscle cells. HP:0030633 Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030633 UMLS:C4073103 HP:0005623 Absent ossification of calvaria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005623 UMLS:C4021629 Absent ossification of skull vault|Absent bone maturation of skullcap Absent ossification of the calvaria (vault of the skull). HP:0031965 Increased RBC distribution width biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031965 Increased red blood cell distribution width Red blood cell distribution width (RDW) is a simple parameter of the standard full blood count and a measure of heterogeneity in the size of circulating erythrocytes. It is provided by automated hematology analyzers and it reflects the range of the red cell size. It is calculated by dividing the standard deviation of erythrocyte volume by the mean corpuscular volume (MCV) and multiplied by 100 to convert to a percentage. HP:0030634 Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030634 UMLS:C4073104 HP:0030639 Congenital stationary night blindness with abnormal fundus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030639 UMLS:C4073106 HP:0031970 Abnormal blood urea nitrogen concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031970 Abnormal BUN concentration Any deviation from the normal concentration of urea nitrogen in the blood. HP:0004309 Ventricular preexcitation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004309 SNOMEDCT_US:195060002|UMLS:C0559106 Ventricular pre-excitation|Preexcitation|Pre-excitation syndrome An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway. HP:0030640 Complete congenital stationary night blindness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030640 UMLS:C4048798 HP:0031971 Subaortic ventricular septal bulge biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031971 A localized hypertrophy of the subaortic segment of the ventricular septum has been frequently described in elderly persons, and variously termed subaortic ventricular septal bulge (VSB), sigmoid-shaped septum, localized or discrete upper septal hypertrophy. HP:0004308 Ventricular arrhythmia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004308 UMLS:C0085612|SNOMEDCT_US:44103008 Ventricular arrhythmias HP:0031972 Presyncope biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031972 Presyncope is a state of lightheadedness, muscular weakness, blurred vision, and feeling faint. Presyncope is most often cardiovascular in cause. HP:0030641 Incomplete congenital stationary night blindness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030641 UMLS:C4073107 HP:0005639 Hyperextensible hand joints biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005639 UMLS:C1856877 The ability of the joints of the hand to move beyond their normal range of motion. HP:0004303 Abnormal muscle fiber morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004303 UMLS:C4021663 Abnormality of muscle fibers|Abnormal muscle fibre morphology|Abnormal skeletal 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. HP:0030646 Peripheral biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030646 SNOMEDCT_US:14414005|UMLS:C0205100 HP:0031977 Increased vertical cup-to-disc ratio - 0.9 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031977 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3). HP:0030647 Paracentral biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030647 UMLS:C4073110 HP:0031978 Increased vertical cup-to-disc ratio - 1.0 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031978 Ratio of the height of the cup of the optic nerve head to the height of the disc is 1.0 (The normal cup-to-disc ratio is 0.3). HP:0004302 Functional motor deficit biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004302 UMLS:C4025360 Functional motor problems HP:0031979 Abnormal urine carbohydrate level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031979 Any deviation from the normal concentration of a carbohydrate in the urine. HP:0030648 Midperipheral biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030648 UMLS:C4073111 Mid-peripheral HP:0005638 Decreased anterioposterior diameter of lumbar vertebral bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005638 UMLS:C4025168 HP:0030649 Pericentral biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030649 UMLS:C4073112 HP:0004307 Abnormal anatomic location of the heart biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004307 UMLS:C4025359 Thickening of the left ventricle wall with congenital onset. HP:0006962 Gait instability, worse in the dark biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006962 UMLS:C1837016 Unstable walking, worse in the dark HP:0031973 Increased vertical cup-to-disc ratio biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031973 An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc. HP:0030642 Fundus albipunctatus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030642 SNOMEDCT_US:68222009|UMLS:C0311338|MSH:C562733 HP:0004306 Abnormal endocardium morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004306 UMLS:C4021662 Abnormality of the endomycoardium|Abnormality of the endocardium An abnormality of the endocardium. HP:0005632 Absent forearm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005632 UMLS:C1408532 Absent forearm|Absent forearms HP:0031974 Increased vertical cup-to-disc ratio - 0.6 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031974 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.6 (The normal cup-to-disc ratio is 0.3). HP:0030643 Vitelliform-like retinal lesions biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030643 UMLS:C4073108 HP:0031975 Increased vertical cup-to-disc ratio - 0.7 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031975 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.7 (The normal cup-to-disc ratio is 0.3). HP:0004305 Involuntary movements biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004305 SNOMEDCT_US:102542000|UMLS:C0235086 Involuntary muscle contractions|Involuntary movements Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face. HP:0030644 Blind-spot enlargment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030644 UMLS:C4073109 Blind spot enlargment HP:0006964 Cerebral cortical neurodegeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006964 UMLS:C1859863 HP:0006965 Acute necrotizing encephalopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006965 UMLS:C1855020 HP:0031976 Increased vertical cup-to-disc ratio - 0.8 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031976 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3). HP:0030645 Central biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030645 SNOMEDCT_US:26216008|UMLS:C0205099 Applies to an abnormality that is located close to the median plane or midline of the body or of the referenced structure. HP:0006960 Choroid plexus calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006960 UMLS:C1863184 Calcified choroid plexus The presence of calcium deposition in the choroid plexus. HP:0006961 Jerky head movements biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006961 UMLS:C1855568 Head jerking|Jerking head movements HP:0031900 obsolete Abnormal serum tryptase concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031900 HP:0003027 Mesomelia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003027 UMLS:C0549306 Symmetric mesomelic limb shortness|Mesomelic shortening of limbs|Disproportionately short middle portion of limb|Mesomelic limb shortening Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments. HP:0004358 Abnormality of superoxide metabolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004358 UMLS:C4025340 HP:0004357 Abnormal circulating leucine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004357 UMLS:C4025341 Any deviation from the normal circulation of leucine in the blood circulation. HP:0003026 Short long bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003026 UMLS:C1854912 Short tubular bones|shortened long tubular bones|Long bone shortening|Short long bone One or more abnormally short long bone. HP:0031901 Elevated total serum tryptase biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031901 An abnormally elevated concentration of total tryptase (alpha and beta tryptase) in the blood circulation. HP:0031902 obsolete Decreased serum mast cell beta-tryptase concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031902 HP:0004356 Abnormality of lysosomal metabolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004356 UMLS:C4025342 HP:0003025 Metaphyseal irregularity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003025 UMLS:C1838662 Metaphyseal irregularities|Irregular wide portion of a long bone|Metaphyseal fraying|Irregular metaphyses|Frayed, irregular metaphyses|Frayed, irregular, metaphyses Irregularity of the normally smooth surface of the metaphyses. HP:0031903 Abnormal circulating selenium concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031903 Abnormal serum selenium concentration Any deviation from the normal circulating concentration of selenium. HP:0004355 obsolete Abnormality of proteoglycan metabolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004355 HP:0005686 Patchy osteosclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005686 UMLS:C1855845 Patchy increase of bone mineral density|Uneven increase in bone density Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays. HP:0005687 Deformed humeral heads biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005687 UMLS:C4025154 Deformed head of long bone in upper arm HP:0003029 Enlargement of the ankles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003029 UMLS:C1838664 Enlargement of the ankles HP:0005688 Dysplastic distal thumb phalanges with a central hole biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005688 UMLS:C4025153 HP:0003028 Abnormality of the ankles biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003028 UMLS:C4025660 Abnormality of the ankles HP:0005689 Dermatoglyphic ridges abnormal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005689 UMLS:C4025152 HP:0004359 Abnormal circulating fatty-acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004359 UMLS:C4020830|UMLS:C4021656 Fatty acids abnormal|Abnormality of fatty acid metabolism A deviation from the normal concentration of a fatty acid in the blood circulation. HP:0005682 Talocalcaneal synostosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005682 UMLS:C4255214|UMLS:C4025155 Fusion of foot joint|Fusion of the subtalar joint HP:0031908 Micrographia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031908 Abnormally small sized handwriting defined formally as an impairment of a fine motor skill manifesting mainly as a progressive or stable reduction in amplitude during a writing task. HP:0031909 Unicornuate uterus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031909 A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn. HP:0005684 Distal arthrogryposis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005684 UMLS:C0265213|SNOMEDCT_US:24269006 An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function. HP:0004354 Abnormal circulating carboxylic acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004354 UMLS:C4025344 Any deviation from the normal concentration of a carboxylic acid in the blood circulation. HP:0031904 Abnormal total hemolytic complement activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031904 Abnormal CH50 Any deviation from the normal total hemolytic complement activity in the circulation. HP:0003023 Bowing of limbs due to multiple fractures biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003023 UMLS:C1850178 Bowed limbs due to multiple fractures Curvature of the shafts of the long bones due to multiple fractures. HP:0003022 Hypoplasia of the ulna biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003022 UMLS:C1862132|UMLS:C1860614|MSH:C538069 Ulnar hypoplasia|Hypoplastic ulna|Short ulna|Underdeveloped ulna|Underdeveloped inner large forearm bone|Short ulnae Underdevelopment of the ulna. HP:0004353 Abnormal circulating pyrimidine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004353 UMLS:C4025345 Any deviation from the normal concentration of a pyrimidine in the blood circulation. HP:0031905 Increased total hemolytic complement activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031905 An abnormally elevated total hemolytic complement activity in the circulation. HP:0031906 Decreased total hemolytic complement activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031906 An abnormally reduced total hemolytic complement activity in the circulation. HP:0004352 Abnormal circulating purine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004352 UMLS:C4025346 Abnormal circulating purine level Any deviation from the normal concentration of a purine in the blood circulation. HP:0003021 Metaphyseal cupping biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003021 UMLS:C1837082 Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance. HP:0005680 Tongue-like lumbar vertebral deformities biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005680 UMLS:C4025156 A tongue-like protusion from the anterior aspect of lumbar vertebral bodies. HP:0031907 Anti-mitochondrial M2 antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031907 AMA-M2 positive|Anti-pyruvate dehydrogenase antibody positivity The presence of M2 anti-mitochondrial antibody (immunoglobulins) in the serum. HP:0005681 Juvenile rheumatoid arthritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005681 UMLS:C3714757|SNOMEDCT_US:410795001 Rheumatoid arthritis, juvenile|Juvenile RA|Juvenile idiopathic arthritis HP:0003020 Enlargement of the wrists biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003020 UMLS:C1838663 Enlargement of the wrists HP:0004369 Decreased circulating purine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004369 UMLS:C4025331 Decreased purine levels|Decreased purine level Abnormally reduced concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. HP:0003038 Fibular hypoplasia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003038 UMLS:C1832119 Hypoplastic fibula|Short fibula|Short calf bone|Short fibulae Underdevelopment of the fibula. HP:0031911 Abnormal fifth cranial nerve physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031911 HP:0003037 Enlarged joints biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003037 UMLS:C1859111 Prominent joints|Enlarged joints Increase in size of one or more joints. HP:0031912 Trigeminal anesthesia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031912 Trigeminal anaesthesia Decreased or absent sensation in the distribution of the trigeminal nerve, which provides tactile, proprioceptive, and nociceptive sensation in the area of the face and mouth. HP:0004368 Increased circulating purine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004368 UMLS:C4025332 Increased purine level|Increased purine levels Abnormally elevated concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. HP:0031913 Rhombencephalosynapsis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031913 Rhombencephalosynapsis is a rare brain malformation defined by midline fusion of the cerebellar hemispheres with partial or complete loss of the intervening vermis. HP:0004367 obsolete Abnormality of glycoprotein metabolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004367 HP:0004366 Abnormality of glycolysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004366 UMLS:C4025334 An abnormality of glycolysis. HP:0031914 Fluctuating biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031914 Varying irregularly over time in severity, amount, or amplitude. HP:0031910 Abnormal cranial nerve physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031910 A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem. HP:0031919 Juvenile type ovarian granulosa cell tumor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031919 Ovarian juvenile granulosa cell tumour|Ovarian juvenile granulosa cell tumor|Juvenile type ovarian granulosa cell tumour 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. HP:0004361 Abnormality of circulating leptin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004361 UMLS:C4025339 An abnormal concentration of leptin in the blood. HP:0004360 Abnormality of acid-base homeostasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004360 MSH:D000137|UMLS:C0001118 Acid base imbalance An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH. HP:0005694 Partial fusion of proximal row of carpal bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005694 UMLS:C3152021 Partial fusion of innermost row of wrist bones HP:0005696 Postaxial polydactyly type A biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005696 SNOMEDCT_US:715704001|UMLS:C3887487|MSH:C562429 Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal. HP:0003034 Diaphyseal sclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003034 SNOMEDCT_US:318761000119105|SNOMEDCT_US:34643004|MSH:D003966|UMLS:C0011989 Craniodiaphyseal osteosclerosis|Diaphyseal osteosclerosis|Increased bone density in shaft of long bone An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity. HP:0004365 Abnormal circulating tryptophan concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004365 UMLS:C4025335 Abnormality of tryptophan metabolism Any deviation from the normal concentration of tryptophan in the blood circulation. HP:0031915 Stable biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031915 This modifier can be applied to a phenotypic feature that does not vary in severity or amount over time. HP:0004364 Abnormal circulating nitrogen compound concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004364 UMLS:C4025336 Any deviation from the normal concentration of a nitrogen compound in the blood circulation. HP:0004363 Abnormal circulating calcium concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004363 Abnormal blood calcium levels|Abnormal circulating Ca2+ concentration|Abnormal circulating Ca concentration|Abnormal blood calcium concentration Any deviation from the normal concentration of calcium in the blood circulation. HP:0031917 Digital ulcer biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031917 An open sore on the surface of the skin of a finger or toe. HP:0031918 Ovarian sex cord-stromal tumor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031918 Ovarian sex cord-stromal tumour A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. HP:0005692 Joint hyperflexibility biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005692 UMLS:C3553764 Joints move beyond expected range of motion Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles. HP:0003031 Ulnar bowing biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003031 UMLS:C1865847 Curving of inner forearm bone|Bowed ulna|Curved ulna Bending of the diaphysis (shaft) of the ulna. HP:0004362 Abnormality of enteric ganglion morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004362 UMLS:C4025338 Abnormality of the enteric ganglia 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. HP:0031922 Renal artery duplication biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031922 Accessory renal artery|Double renal artery The renal arteries carry blood from the aorta to the kidney; normally one renal artery is present on each side of the body. Renal artery duplication refers to the presence of two rather than one renal artery on a given side of the body. HP:0004336 Myelin outfoldings biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004336 UMLS:C1843168 Irregular myelin foldings|Excessive focal folding of myelin sheaths The presence of excessive redundant myelin in the peripheral nerve sheath. HP:0006999 Basal ganglia gliosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006999 UMLS:C2750915|UMLS:C1864114 Gliosis in the basal ganglia Focal proliferation of glial cells in the basal ganglia. HP:0003005 Ganglioneuroma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003005 SNOMEDCT_US:116371000119107|SNOMEDCT_US:53801007|MSH:D005729|UMLS:C0017075|SNOMEDCT_US:128919000 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. HP:0031923 Hematocolpos biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031923 Haematocolpos Accumulation of blood in the vagina usually due to vaginal obstruction. HP:0003003 Colon cancer biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003003 MSH:D003110|SNOMEDCT_US:363406005|UMLS:C0007102 Colon cancer HP:0004334 Dermal atrophy biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0004334 MEDDRA:10040799|SNOMEDCT_US:399979006|SNOMEDCT_US:400190005|UMLS:C0151514 Skin degeneration|Skin atrophy|Atrophic skin Partial or complete wasting (atrophy) of the skin. HP:0031924 Rope sign biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031924 The presence of linear erythematous palpable cords, often on the lateral trunk. HP:0031925 Rosette biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031925 A halo or spoke-wheel arrangement of cells surrounding a central core or hub. The central hub may consist of an empty-appearing lumen or a space filled with cytoplasmic processes. The cytoplasm of each of the cells in the rosette is often wedge-shaped with the apex directed toward the central core; the nuclei of the cells participating in the rosette are peripherally positioned and form a ring or halo around the hub. HP:0003002 Breast carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003002 NCIT:C2916|MSH:D001943|UMLS:C0678222|SNOMEDCT_US:254838004 Breast cancer The presence of a carcinoma of the breast. HP:0004333 Bone-marrow foam cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004333 UMLS:C1856560 Large vacuolated foam cells on bone marrow biopsy|Bone marrow foam cells|Large vacuolated foam cells ('NP cells') on bone marrow biopsy The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance. HP:0003009 Enhanced neurotoxicity of vincristine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003009 UMLS:C4025661 HP:0005665 Massively thickened long bone cortices biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005665 UMLS:C4025160 Extreme thickening of the cortex of long bones. HP:0004339 Abnormal circulating sulfur amino acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004339 UMLS:C4021660 Abnormal circulating sulphur amino acid concentration|Abnormality of sulfur-containing amino acids Any deviation from the normal concentration of a sulfur amino acid in the blood circulation. HP:0031920 Malignant ovarian granulosa cell tumor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031920 Malignant ovarian granulosa cell tumour An aggressive granulosa cell tumor that arises from the ovary. HP:0004338 Abnormal circulating aromatic amino acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004338 UMLS:C4025352 Abnormality of aromatic amino acid family metabolism Any deviation from the normal concentration of a aromatic amino acid in the blood circulation. HP:0005667 Os odontoideum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005667 SNOMEDCT_US:445242006|UMLS:C2919848 Separation of the odontoid process from the body of the axis. HP:0031921 Gastrocnemius myalgia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031921 Calf myalgia|Calf muscle pain Pain of the gastrocnemius muscle. HP:0003006 Neuroblastoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003006 MSH:D009447|NCIT:C3270|SNOMEDCT_US:432328008|UMLS:C0027819|SNOMEDCT_US:87364003 Cancer of early nerve cells Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum. HP:0004337 Abnormality of amino acid metabolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004337 UMLS:C1328440 Amino acid levels abnormal Abnormality of an amino acid metabolic process. HP:0005661 Salmonella osteomyelitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005661 UMLS:C0152491|SNOMEDCT_US:6803002 Salmonella bone infection Osteomyelitis caused by infection with the bacteria, salmonella. HP:0006992 Anterior basal encephalocele biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006992 UMLS:C1850961 HP:0006994 Diffuse leukoencephalopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006994 UMLS:C1868514 HP:0004332 Abnormal lymphocyte morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004332 SNOMEDCT_US:250284007|UMLS:C0427546 Abnormal lymphocytes|Abnormality of cells of the lymphoid lineage An abnormality of lymphocytes. HP:0003001 Glomus jugular tumor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003001 SNOMEDCT_US:127030001|MSH:D005925|UMLS:C0017671|SNOMEDCT_US:32037004 Glomus jugular tumour|Glomus jugulare tumors|Glomus jugulare tumor HP:0031926 Homer Wright rosette biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031926 A type of rosette in which the central lumen or hub is filled with fiber-like processes. HP:0004331 Decreased skull ossification biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0004331 UMLS:C4280533|SNOMEDCT_US:253980008|UMLS:C0432073 Deficient skull ossification|Poorly ossified skull bones|Decreased bone formation of skull|Ossification defect of skull|Decreased calcification of skull|Poorly ossified skull|Hypoossification of skull|Decreased mineralization of skull|Poorly mineralized skull A reduction in the magnitude or amount of ossification of the skull. HP:0031927 Flexner-Wintersteiner rosette biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031927 The tumor cells that form the Flexner-Wintersteiner rosette circumscribe a central lumen that contains small cytoplasmic extensions of the encircling cells; however, unlike the center of the Homer Wright rosette, the central lumen does not contain the fiber-rich neuropil. HP:0004330 Increased skull ossification biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0004330 UMLS:C0020496|SNOMEDCT_US:17401000119104|UMLS:C4072851|UMLS:C4072850 Increased calcification of skull|Hyperostosis of skull|Sclerosis of bones of skull|Increased Mineralization of skull|Sclerosis of skull|Hyperossification of skull An increase in the magnitude or amount of ossification of the skull. HP:0031928 True ependymal rosette biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031928 A type of rosette in which a halo of cells surrounds an empty lumen. HP:0006990 Myelin-dependent gliosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006990 UMLS:C4024954 A type of gliosis that occurs in the vicinity of injured neurons. HP:0031929 Perivascular pseudorosette biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031929 A type of rosette in which a spoke-wheel arrangement of cells with tapered cellular processes radiates around a wall of a centrally placed vessel. HP:0003016 Metaphyseal widening biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003016 UMLS:C1849039 Wide metaphyses|Broad wide portion of long bone|Widened long bone metaphyses|Widened metaphyses Abnormal widening of the metaphyseal regions of long bones. HP:0005679 Dupuytren contracture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005679 SNOMEDCT_US:274142002|SNOMEDCT_US:410813000|SNOMEDCT_US:203045001|UMLS:C0013312|MSH:D004387|SNOMEDCT_US:203047009 An abnormality of the hand resulting from contracture of the palmar fascia with a fixed flexion deformity of the metacarpophalangeal (MCP) joints and the proximal interphalangeal (PIP) joints. HP:0004347 Weakness of muscles of respiration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004347 UMLS:C4025347 Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles. HP:0030602 Abnormal fundus autofluorescence imaging biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030602 UMLS:C4073073 Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical practice to provide a density map of lipofuscin, the predominant ocular fluorophore, in the retinal pigment epithelium. Autofluorescent patterns result from the complex interaction of fluorophores such a lipofuscin, which release an autofluorescent signal, and elements such as melanin and rhodopsin, which absorb the excitation beam and attenuate autofluorescence. Other structures such as retinal vessels and the crystalline lens may also influence autofluorescence through blocking and interference. HP:0031933 Aorto-right ventricular tunnel biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031933 Right ventricle to aorta tunnel The presence of an extracardiac channel that connects the ascending aorta above the sinotubular junction to the cavity of the right ventricle. HP:0003015 Flared metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003015 UMLS:C1850135 Metaphyses flared|Flared, widened metaphyses|Flared wide portion of long bone|marked metaphyseal flaring of long bones|Metaphyseal flaring of long bones|Metaphyseal flaring|Splayed metaphyses|Metaphyseal splaying The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. HP:0030603 Abnormal optical coherence tomography biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030603 UMLS:C3665728 HP:0031934 Abnormal descending aorta morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031934 A structural abnormality of the part of the aorta that begins at the aortic arch and then descends through the chest and abdomen. HP:0004345 Ganglioside accumulation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004345 UMLS:C4025348 Defects in the lysosomal glycosidases or specific co-activators, result in accumulation of the substrates, such as glycosphingolipids, including gangliosides in GM1 gangliosidosis (Tay-Sachs disease) and GM2 gangliosidosis (Sandhoff disease). HP:0031935 Ascending aorta hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031935 Significant luminal narrowing of a long segment of or the entire ascending aorta. HP:0030604 Abnormal fundus fluorescein angiography biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030604 UMLS:C4073074 An abnormality observed by retinal fluorescein angiography, which involves the intravenous injection of fluorescein dye followed by fluorescent imaging of the fundus immediately after injection and for up to ten minutes thereafter. It can be used to study various retinal abnormalities including especially anomalies of the choroidal and retinal circulation. HP:0003013 Bulging epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003013 UMLS:C1833329 Bulging end part of bone A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant). HP:0031936 Delayed ability to walk biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031936 Delayed walking A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months. HP:0004344 Abnormality of cerebrosidase metabolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004344 UMLS:C4025349 HP:0030605 Abnormal indocyanine green angiography biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030605 UMLS:C4073075 HP:0031930 Neurocytic rosette biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031930 Pineocytomatous rosette A type of rosette that is similar to the Homer Wright rosette, but the central fiber-rich neuropil island is larger and more irregular. HP:0003019 Abnormality of the wrist biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003019 UMLS:C4021744 Abnormality of the wrist|Abnormalities of the wrists Abnormality of the wrist, the structure connecting the hand and the forearm. HP:0005676 Rudimentary postaxial polydactyly of hands biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005676 UMLS:C4025158 HP:0031931 Ocular flutter biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031931 Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation. HP:0004349 Reduced bone mineral density biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004349 UMLS:C2674432 Low solidness and mass of the bones|Decreased bone mineral density|Decreased bone mineral density Z score A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones. HP:0005678 Anterior atlanto-occipital dislocation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005678 UMLS:C4025157 HP:0030601 Abnormal posterior segment imaging biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030601 UMLS:C4073072 HP:0031932 Aorto-left ventricular tunnel biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031932 Left ventricle to aorta tunnel Aorto-left ventricular tunnel (ALVT) is a congenital extracardiac channel connecting the ascending aorta above the sino-tubular junction to either left ventricular cavity. HP:0004348 Abnormality of bone mineral density biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004348 UMLS:C4021657 Abnormality of bone mineralisation and ossification This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ. HP:0005671 Bilateral intracranial calcifications biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005671 UMLS:C4025159 Deposition of calcium salts on both sides of the brain. HP:0004343 Abnormal glycosphingolipid metabolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004343 UMLS:C4025350 Abnormality of glycosphingolipid metabolism An abnormality of glycosphingolipid metabolism. HP:0031937 Tachylalia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031937 Tachylogia Extreme rapidity of speech. HP:0030606 Abnormal OCT-measured macular thickness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030606 UMLS:C4073076 HP:0004342 Abnormality of galactoside metabolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004342 UMLS:C4025351 Abnormality of galactoside metabolism. A galactoside is a glycoside (a suger moiety bound to some other moiety) containing galactose. HP:0031938 Abnormal conus terminalis morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031938 Abnormal conus medullaris morphology Any structural anomaly of the conus terminalis, which is the distal bulbous part of the spinal cord at the location where the spinal cord tapers and ends (usually between the L1 and L2 lumbar vertebrae). HP:0003011 Abnormality of the musculature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003011 UMLS:C4021745 Muscular abnormality Abnormality originating in one or more muscles, i.e., of the set of muscles of body. HP:0030607 Reduced OCT-measured macular thickness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030607 UMLS:C4073077 HP:0030608 Increased OCT-measured macular thickness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030608 UMLS:C4073078 HP:0003010 Prolonged bleeding time biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003010 UMLS:C0151529 Prolonged bleeding time|Increased bleeding time Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding. HP:0031939 Conus terminalis arteriovenous malformation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031939 HP:0004341 Abnormality of vitamin B12 metabolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004341 UMLS:C4021658 Abnormality of the vitamin B12 metabolism HP:0030609 Photoreceptor layer loss on macular OCT biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030609 UMLS:C4073079 Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography. HP:0004340 Abnormality of vitamin B metabolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004340 UMLS:C4021659 Abnormality of B-vitamin metabolism HP:0006904 Late-onset spinocerebellar degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006904 UMLS:C1856604 HP:0006906 Congenital intracerebral calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006906 UMLS:C4024966 The presence of calcium deposition within brain structures that is present already at the time of birth. HP:0006901 Impaired thermal sensitivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006901 UMLS:C4024968 HP:0006903 Congenital peripheral neuropathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006903 UMLS:C4024967 HP:0006937 Impaired distal tactile sensation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006937 UMLS:C4021583 Decreased touch sensation in extremities|Decreased distal touch sense 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. HP:0005606 Hyperpigmented nevi and streak biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005606 UMLS:C3805692 HP:0006938 Impaired vibration sensation at ankles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006938 UMLS:C1854372 Decreased vibration sense at ankles|Decreased vibration sense in feet|Impaired vibration sensation at ankles A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles. HP:0005607 Abnormal tracheobronchial morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005607 Fyler:4232|UMLS:C4021631 Tracheobronchial anomalies HP:0005608 Bilobate gallbladder biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005608 UMLS:C1846422 Bilobed gallbladder|Gallbladder duplication|Double gallbladder The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium. HP:0005609 Gallbladder dysfunction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005609 UMLS:C0232769|SNOMEDCT_US:51047007 Gallbladder dysfunction HP:0005602 Progressive vitiligo biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005602 UMLS:C3806428 HP:0005603 Numerous congenital melanocytic nevi biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005603 UMLS:C3806415 HP:0006934 Congenital nystagmus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006934 SNOMEDCT_US:64635004|MSH:D020417|UMLS:C0700501 Nystagmus, congenital Nystagmus dating from or present at birth. HP:0005605 Large cafe-au-lait macules with irregular margins biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005605 UMLS:C4025174 Large hypermelanotic macules with jagged borders. HP:0006930 Frontoparietal cortical dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006930 UMLS:C4024959 The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe. HP:0006931 Lipoma of corpus callosum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006931 UMLS:C1333160 HP:0005600 Congenital giant melanocytic nevus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005600 SNOMEDCT_US:254815002|MSH:C536819|SNOMEDCT_US:10291008|UMLS:C1842036 Giant pigmented mole|Giant pigmented nevus|Giant pigmented hairy nevus The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child. HP:0006932 Transient psychotic episodes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006932 UMLS:C4024958 HP:0005617 Bilateral camptodactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005617 UMLS:C4021830 HP:0006949 Episodic peripheral neuropathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006949 UMLS:C1848695 HP:0005619 Thoracolumbar kyphosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005619 UMLS:C1855418 Thoracolumbar gibbus deformity|Thoracolumbar gibbus Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance. HP:0006944 Abolished vibration sense biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006944 UMLS:C1837520 Apallesthesia A complete loss of the ability to perceive vibration. HP:0005613 Aplasia/hypoplasia of the femur biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005613 UMLS:C1851310 Hypoplastic to absent femora|Hypoplastic/aplastic femora|Absent/underdeveloped thighbone|Absent/small thighbone Absence or underdevelopment of the femur. HP:0006946 Recurrent meningitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006946 UMLS:C0746495 An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis. HP:0005616 Accelerated skeletal maturation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005616 UMLS:C0545053|SNOMEDCT_US:123982003 Advanced bone age|Early bone maturation An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. HP:0005612 Arthrogryposis-like hand anomaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005612 UMLS:C4025173 HP:0006943 Diffuse spongiform leukoencephalopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006943 UMLS:C1858857 HP:0006919 Abnormal aggressive, impulsive or violent behavior biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006919 UMLS:C4024963 Aggressive/violent behavior|Abnormal aggressive, impulsive or violent behaviour HP:0006915 Inability to walk by childhood/adolescence biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006915 UMLS:C1859200 Inability to walk by childhood/adolescence HP:0006916 Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006916 UMLS:C1832339|UMLS:C4024964 Intraaxonal accumulation of curvilinear profiles Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons. HP:0006918 Diffuse cerebral sclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006918 MSH:D002549|UMLS:C0007795|SNOMEDCT_US:49692006 HP:0006913 Frontal cortical atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006913 UMLS:C4024965 Frontal cortex degeneration Atrophy of the frontal cortex. HP:0006926 Metachromatic leukodystrophy variant biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006926 UMLS:C4024961 HP:0006927 Unilateral polymicrogyria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006927 UMLS:C4024960|SNOMEDCT_US:715905006 Excessive number of small gyri (convolutions) on the surface of one side of the brain. HP:0006929 Hypoglycemic encephalopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006929 UMLS:C0149877|SNOMEDCT_US:64624009 Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage. HP:0006921 Axial muscle stiffness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006921 UMLS:C4024962 Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature. HP:0100127 Irregular epiphysis of the proximal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100127 UMLS:C4022294 Irregular end part of the innermost bone of the 2nd toe HP:0100128 Ivory epiphysis of the proximal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100128 UMLS:C4022293 Increased bone density of end part of the innermost bone of the 2nd toe HP:0100125 Enlarged epiphysis of the proximal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100125 UMLS:C4022296 Enlarged end part of the innermost bone of the 2nd toe HP:0100126 Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100126 UMLS:C4022295 Fragmentation of the end part of the innermost bone of the 2nd toe HP:0100123 Bracket epiphysis of the proximal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100123 UMLS:C4022298 Bracket shaped end part of the innermost bone of the 2nd toe HP:0100124 Cone-shaped epiphysis of the proximal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100124 UMLS:C4022297 Cone-shaped end part of the innermost bone of the 2nd toe HP:0100121 Triangular epiphysis of the middle phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100121 UMLS:C4022300 Triangular end part of the middle bone of the 2nd toe HP:0100122 Absent epiphysis of the proximal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100122 UMLS:C4022299 Absent end part of the innermost bone of the 2nd toe HP:0100120 Stippling of the epiphysis of the middle phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100120 UMLS:C4022301 Speckled calcifications in of the end part of the middle bone of the 2nd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 2nd toe. HP:0100129 Pseudoepiphysis of the proximal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100129 UMLS:C4022292 HP:0100138 Enlarged epiphysis of the distal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100138 UMLS:C4022283 Enlarged end part of the outermost bone of the 3rd toe HP:0100139 Fragmentation of the epiphysis of the distal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100139 UMLS:C4022282 Fragmentation of the end part of the outermost bone of the 3rd toe HP:0100136 Bracket epiphysis of the distal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100136 UMLS:C4022285 Bracket shaped end part of the outermost bone of the 3rd toe HP:0100137 Cone-shaped epiphysis of the distal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100137 UMLS:C4022284 Cone-shaped end part of the outermost bone of the 3rd toe HP:0100134 Abnormality of the axillary hair biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100134 UMLS:C4022287 Abnormality of the growth of the axillary hair. Axillary hair is part of the secondary sexual hair, which normally ensues during puberty. HP:0100135 Absent epiphysis of the distal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100135 UMLS:C4022286 Absent end part of the outermost bone of the 3rd toe HP:0100132 Triangular epiphysis of the proximal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100132 UMLS:C4022289 Triangular end part of the innermost bone of the 2nd toe HP:0100133 Abnormality of the pubic hair biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100133 UMLS:C4022288 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. HP:0100130 Small epiphysis of the proximal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100130 UMLS:C4022291 Small end part of the innermost bone of the 2nd toe HP:0100131 Stippling of the epiphysis of the proximal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100131 UMLS:C4022290 Speckled calcifications in the end part of the innermost bone of the 2nd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 2nd toe. HP:0100149 Enlarged epiphysis of the middle phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100149 UMLS:C4022272 Enlarged end part of the middle bone of the 3rd toe HP:0100147 Bracket epiphysis of the middle phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100147 UMLS:C4022274 Bracket shaped end part of the middle bone of 3rd toe HP:0100148 Cone-shaped epiphysis of the middle phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100148 UMLS:C4022273 Cone-shaped end part of the middle bone of the 3rd toe HP:0100145 Triangular epiphysis of the distal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100145 UMLS:C4022276 Triangular end part of the outermost bone of the 3rd toe HP:0100146 Absent epiphysis of the middle phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100146 UMLS:C4022275 Absent end part of the middle bone of the 3rd toe HP:0100143 Small epiphysis of the distal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100143 UMLS:C4022278 Small end part of the outermost bone of the 3rd toe HP:0100144 Stippling of the epiphysis of the distal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100144 UMLS:C4022277 Speckled calcifications in the end part of the outermost bone of the 3rd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 3rd toe. HP:0100141 Ivory epiphysis of the distal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100141 UMLS:C4022280 Increased bone density of end part of the outermost bone of the 3rd toe HP:0100142 Pseudoepiphysis of the distal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100142 UMLS:C4022279 HP:0100140 Irregular epiphysis of the distal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100140 UMLS:C4022281 Irregular end part of the outermost bone of the 3rd toe HP:0410005 Cleft hard palate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410005 SNOMEDCT_US:448915004|UMLS:C0432090 Cleft bony palate|Cleft of hard palate HP:0410004 obsolete Cleft secondary palate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410004 HP:0410003 Cleft maxillary alveolus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410003 UMLS:C0432084|UMLS:C4280276|SNOMEDCT_US:109546001 Cleft primary palate|Cleft alveolar process of maxilla|Alveolar cleft|Cleft anterior maxilla Alveolar cleft is a tornado-shaped bone defect in the maxillary arch. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine. HP:0410009 Abnormality of the somatic nervous system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410009 UMLS:C4073188 Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements. HP:0410008 Abnormality of the peripheral nervous system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410008 UMLS:C4073187 Abnormality of the peripheral nervous system Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord. HP:0410007 obsolete Abnormality of cartilage morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410007 HP:0410006 Abnormality of ophthalmic artery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410006 UMLS:C4073185 Ophthalmic artery anomaly Abnormality of the first branch of the internal carotid artery. HP:0410000 Abnormality of vomer biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410000 UMLS:C4020914 Abnormality of vomer bone|Defect of vomer An abnormality of the vomer. HP:0100158 Bracket epiphysis of the proximal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100158 UMLS:C4022263 Bracket shaped end part of the innermost bone of 3rd toe HP:0100159 Cone-shaped epiphysis of the proximal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100159 UMLS:C4022262 Cone-shaped end part of the innermost bone of the 3rd toe HP:0100156 Triangular epiphysis of the middle phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100156 UMLS:C4022265 Triangular end part of the middle bone of the 3rd toe HP:0100157 Absent epiphysis of the proximal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100157 UMLS:C4022264 Absent end part of the innermost bone of the 3rd toe HP:0100154 Small epiphysis of the middle phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100154 UMLS:C4022267 Small end part of the middle bone of the 3rd toe HP:0100155 Stippling of the epiphysis of the middle phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100155 UMLS:C4022266 Speckled calcifications in the end part of the middle bone of the 3rd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 3rd toe. HP:0100152 Ivory epiphysis of the middle phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100152 UMLS:C4022269 Increased bone density of end part of the middle bone of the 3rd toe HP:0100153 Pseudoepiphysis of the middle phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100153 UMLS:C4022268 HP:0100150 Fragmentation of the epiphysis of the middle phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100150 UMLS:C4022271 Fragmentation of the end part of the middle bone of the 3rd toe HP:0100151 Irregular epiphysis of the middle phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100151 UMLS:C4022270 Irregular end part of the middle bone of the 3rd toe HP:0040179 Decreased level of platelet-activating factor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040179 UMLS:C4073144 Decreased level of PAF HP:0100169 Absent epiphysis of the distal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100169 UMLS:C4022252 Absent end part of the outermost bone of the 4th toe HP:0100167 Triangular epiphysis of the proximal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100167 UMLS:C4022254 Triangular end part of the innermost bone of the 3rd toe HP:0100168 Fragmented epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100168 UMLS:C4022253 Fragmented end part of bone Fragmented appearance of the epiphyses. HP:0100165 Small epiphysis of the proximal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100165 UMLS:C4022256 Small end part of the innermost bone of the 3rd toe HP:0100166 Stippling of the epiphysis of the proximal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100166 UMLS:C4022255 Speckled calcifications in of the end part of the innermost bone of the 3rd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 3rd toe. HP:0100163 Ivory epiphysis of the proximal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100163 UMLS:C4022258 Increased bone density of end part of the innermost bone of the 3rd toe HP:0100164 Pseudoepiphysis of the proximal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100164 UMLS:C4022257 HP:0100161 Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100161 UMLS:C4022260 Fragmentation of the end part of the innermost bone of the 3rd toe HP:0100162 Irregular epiphysis of the proximal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100162 UMLS:C4022259 Irregular end part of the innermost bone of the 3rd toe HP:0100160 Enlarged epiphysis of the proximal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100160 UMLS:C4022261 Enlarged end part of the innermost bone of the 3rd toe HP:0410027 Alveolar bone loss around teeth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410027 Bone loss around teeth A decrease in the amount of alveolar bone around the root of a tooth. HP:0410026 Abnormality of the periodontium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410026 Any abnormality of the periodontium. HP:0040170 Abnormality of hair growth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040170 UMLS:C4073136 HP:0410028 Recurrent oral herpes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410028 Recurrent herpes labialis Recurrent episodes of oral herpes, typically characterized by blisters or ulcers on the gums, lips and/or tongue caused by herpes virus. HP:0040173 Abnormality of the tongue muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040173 UMLS:C4073139 Abnormality of lingual muscle|Abnormality of the tongue muscle HP:0040174 Abnormality of extrinsic muscle of tongue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040174 UMLS:C4073140 Abnormality of extrinsic lingual muscle HP:0040171 Decreased serum testosterone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040171 UMLS:C4073137|UMLS:C1295654|SNOMEDCT_US:131078003 Decreased serum testosterone level|Low serum testosterone levels|Low serum testosterone level|Decreased serum testosterone levels|Decreased testosterone HP:0040172 Abnormality of occipitofrontalis muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040172 UMLS:C4073138 HP:0040177 Abnormal level of platelet-activating factor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040177 UMLS:C4073142 Abnormal level of PAF HP:0410023 Abnormal distribution of cell junction proteins in buccal mucosal cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410023 An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43. HP:0410022 Vaginal fish odor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410022 Vaginal fish odor|Vaginal fish odour A fish odor in the vaginal area, that is characteristic of bacterial vaginosis (BV), and is due to trimethylamine (TMA). HP:0040178 Increased level of platelet-activating factor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040178 UMLS:C4073143 Increased level of PAF HP:0040175 Platelet-activating factor acetylhydrolase deficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040175 UMLS:C3280315|MSH:C566640 Reduced level of platelet-activating factor acetylhydrolase. HP:0410021 Musty odor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410021 Musty odor|Musty odour Pungent body odor. HP:0410020 Fish odor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410020 Fish odour|Fishy odor|Fishy body odor Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylamine (TMA) in the urine, sweat, and breath of affected individuals. HP:0040176 Abnormal circulating phospholipid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040176 UMLS:C4073141 Abnormal level of phospholipids Any deviation from the normal concentration of a phospholipid in the blood circulation. HP:0100178 Stippling of the epiphysis of the distal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100178 UMLS:C4022243 Speckled calcifications in the end part of the outermost bone of the 4th toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 4th toe. HP:0100179 Triangular epiphysis of the distal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100179 UMLS:C4022242 Triangular end part of the outermost bone of the 4th toe HP:0100176 Pseudoepiphysis of the distal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100176 UMLS:C4022245 HP:0100177 Small epiphysis of the distal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100177 UMLS:C4022244 Small end part of the outermost bone of the 4th toe HP:0100174 Irregular epiphysis of the distal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100174 UMLS:C4022247 Irregular end part of the outermost bone of the 4th toe HP:0100175 Ivory epiphysis of the distal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100175 UMLS:C4022246 Increased bone density of end part of the outermost bone of the 4th toe HP:0100172 Enlarged epiphysis of the distal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100172 UMLS:C4022249 Enlarged end part of the outermost bone of the 4th toe HP:0100173 Fragmentation of the epiphysis of the distal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100173 UMLS:C4022248 Fragmentation of the end part of the outermost bone of the 4th toe HP:0100170 Bracket epiphysis of the distal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100170 UMLS:C4022251 Bracket shaped end part of the outermost bone of the 4th toe HP:0100171 Cone-shaped epiphysis of the distal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100171 UMLS:C4022250 Cone-shaped end part of the outermost bone of the 4th toe HP:0410016 Abnormality of cranial ganglion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410016 UMLS:C4073195 An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system of the cranium. HP:0410015 Abnormality of ganglion of peripheral nervous system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410015 UMLS:C4073194 An abnormality of nerve cell cluster or a group of nerve cell bodies located in the peripheral autonomic nervous system. HP:0410014 Abnormality of ganglion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410014 UMLS:C4073193 An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system. HP:0410013 Abnormality of the submandibular region biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410013 UMLS:C4073192 Any abnormality of the submandibular region, the region between the mandible and the hyoid bone contains the submandibular and sublingual glands, suprahyoid muscles, submandibular ganglion, and lingual artery. HP:0040180 obsolete Hyperkeratosis pilaris biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040180 HP:0040181 Chapped lip biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040181 SNOMEDCT_US:402294001|SNOMEDCT_US:238751002|UMLS:C0424489|SNOMEDCT_US:16459000|MSH:D019557|UMLS:C0263449|SNOMEDCT_US:248182008 Common cheilitis|Cheilitis simplex|Chapped lip|Perioral dermatitis|Chapped lips|Dry lips Cracking, fissuring, and peeling of the skin of the lips. HP:0410019 Epigastric pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410019 Epigastrium pain Pain that is localized to the region of the upper abdomen immediately below the ribs. HP:0410018 Recurrent ear infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410018 Frequent ear infections|Recurrent ear infections Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections. HP:0410017 Otitis externa biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410017 Swimmer's ear Inflammation or infection of the external auditory canal (EAC), the auricle, or both. HP:0040184 Oral bleeding biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040184 SNOMEDCT_US:22490002|MSH:D006472|UMLS:C0029163 Oral hemorrhage|Oral bleeding HP:0040185 Macrothrombocytopenia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040185 UMLS:C2751260 Macrothrombozytopenia HP:0040182 Inappropriate sinus tachycardia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040182 UMLS:C1881170|SNOMEDCT_US:425582007 Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands. HP:0040183 Encopresis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040183 UMLS:C2945606|SNOMEDCT_US:302690004 Stool soiling|Stool holding HP:0410012 Abnormal mouth floor morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410012 UMLS:C4073191 Abnormality of the mouth floor|Abnormality of the floor of mouth Any abnormality of the mouth floor. HP:0040188 Osteochondrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040188 MSH:D055034|SNOMEDCT_US:19579005|UMLS:C0029429 Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification. HP:0040189 Scaling skin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040189 UMLS:C0237849|SNOMEDCT_US:14411002|SNOMEDCT_US:271767006 Scaling skin|Desquamation|flaking skin|scaly skin|peeling skin Refers to the loss of the outer layer of the epidermis in large, scale-like flakes. HP:0410011 Abnormality of masticatory muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410011 UMLS:C4073190 Abnormality of muscles of mastication Any abnormality of the masticatory muscle. HP:0410010 Abnormality of somatic nerve plexus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410010 UMLS:C4073189 Any abnormality of the somatic nerve plexus. HP:0040186 Maculopapular exanthema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040186 UMLS:C0423791|SNOMEDCT_US:47725002|SNOMEDCT_US:247471006 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. HP:0040187 Neonatal sepsis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040187 SNOMEDCT_US:206376005|MSH:D000071074|UMLS:C0456103 Systemic inflammatory response to infection in newborn babies. HP:0100189 Stippling of the epiphysis of the middle phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100189 UMLS:C4022232 Speckled calcifications in the end part of the middle bone of the 4th toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 4th toe. HP:0100187 Pseudoepiphysis of the middle phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100187 UMLS:C4022234 HP:0100188 Small epiphysis of the middle phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100188 UMLS:C4022233 Small end part of middle long bone of 4th toe HP:0100185 Irregular epiphysis of the middle phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100185 UMLS:C4022236 Irregular end part of the middle bone of the 4th toe HP:0100186 Ivory epiphysis of the middle phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100186 UMLS:C4022235 Increased bone density of end part of the middle bone of the 4th toe HP:0100183 Enlarged epiphysis of the middle phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100183 UMLS:C4022238 Enlarged end part of the middle bone of the 4th toe HP:0100184 Fragmentation of the epiphysis of the middle phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100184 UMLS:C4022237 Fragmentation of the end part of the middle bone of the 4th toe HP:0100181 Bracket epiphysis of the middle phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100181 UMLS:C4022240 Bracket shaped end part of the middle bone of the 4th toe HP:0100182 Cone-shaped epiphysis of the middle phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100182 UMLS:C4022239 Cone-shaped end part of the middle bone of the 4th toe HP:0100180 Absent epiphysis of the middle phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100180 UMLS:C4022241 Absent end part of the middle bone of the 4th toe HP:0410049 Abnormality of radial ray biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410049 Radial ray deformity|Radial ray anomaly|Deformity of radial ray|Radial ray abnormality HP:0040191 Rectus femoris muscle atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040191 UMLS:C2083352 Atrophy of the rectus femoris muscles HP:0040192 APUdoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040192 SNOMEDCT_US:253008000|UMLS:C0003650|MSH:D001079|SNOMEDCT_US:74926005 amine precursor uptake and decarboxylation tumours An endocrine tumor arising from an APUD cell. HP:0040190 White scaling skin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040190 UMLS:C4073146 White scaly skin|White scaling skin HP:0040195 Decreased head circumference biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040195 UMLS:C0424688|SNOMEDCT_US:271611007 Decreased head circumference An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean. HP:0040196 Mild microcephaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040196 UMLS:C1836806 Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD <= OFC < -2 SD). HP:0040193 obsolete Pinealoblastoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040193 HP:0040194 Increased head circumference biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040194 UMLS:C4083076 Increased head circumference An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. HP:0040199 obsolete Flat midface biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040199 HP:0040197 Encephalomalacia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040197 SNOMEDCT_US:58762006|MSH:D004678|UMLS:C0014068 Cerebral softening Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury. HP:0410043 Abnormal neural tube morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410043 Fyler:4339 Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord). HP:0040198 Non-medullary thyroid carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040198 MSH:C536915|UMLS:C3501843 Nonmedullary thyroid carcinoma|Thyroid cancer, nonmedullary HP:0410042 Abnormal liver morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410042 Fyler:4447 Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage. HP:0100198 Pseudoepiphysis of the proximal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100198 UMLS:C4022223 HP:0100199 Small epiphysis of the proximal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100199 UMLS:C4022222 Small end part of the innermost bone of the 4th toe HP:0100196 Irregular epiphysis of the proximal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100196 UMLS:C4022225 Irregular end part of the innermost bone of the 4th toe HP:0100197 Ivory epiphysis of the proximal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100197 UMLS:C4022224 Increased bone density of end part of the innermost bone of the 4th toe HP:0100194 Enlarged epiphysis of the proximal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100194 UMLS:C4022227 Enlarged end part of the innermost bone of the 4th toe HP:0100195 Fragmentation of the epiphysis of the proximal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100195 UMLS:C4022226 Fragmentation of the end part of the innermost bone of the 4th toe HP:0100192 Bracket epiphysis of the proximal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100192 UMLS:C4022229 Bracket shaped end part of the innermost bone of 4th toe HP:0100193 Cone-shaped epiphysis of the proximal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100193 UMLS:C4022228 Cone-shaped end part of the innermost bone of the 4th toe HP:0100190 Triangular epiphysis of the middle phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100190 UMLS:C4022231 Triangular end part of the middle bone of the 4th toe HP:0100191 Absent epiphysis of the proximal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100191 UMLS:C4022230 Absent end part of the innermost bone of the 4th toe HP:0410035 Abnormal T cell activation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410035 Abnormal T lymphocyte activation|Abnormal T-lymphocyte activation|Abnormal T-cell activation Any abnormality in the activation of T cells, i.e. the change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. HP:0410030 Cleft lip biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410030 Cleft lip|Cleft of the lip A gap in the lip or lips. HP:0410034 Bilateral alveolar cleft of maxilla biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410034 Nonmidline alveolar cleft of the maxilla. HP:0410033 Unilateral alveolar cleft of maxilla biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410033 One sided alveolar cleft of the maxilla. HP:0410032 obsolete Cleft of uvula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410032 HP:0410031 Submucous cleft of soft and hard palate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410031 Soft and hard-palate submucous clefts are characterized by bony defects in the midline of the soft and hard palate that are covered by the lining (ie mucous membrane) of the roof of the mouth. HP:0040137 Comedonal acne biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040137 UMLS:C4022418 Comedogenic acne A type of acne in which open and closed comedones comprise the majority of the lesions, with substantially fewer papules and pustules. HP:0040138 Mucinous histiocytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040138 SNOMEDCT_US:87412005|UMLS:C0334126 Histiocytosis, mucinous 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. HP:0040135 Abnormal transferrin saturation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040135 UMLS:C4022419 Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity. HP:0003191 Cleft ala nasi biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003191 UMLS:C1844537 Alar clefts|Notched nasal alae|Cleft nasal alae|Nostril coloboma|Cleft nostril|Ala nasi, cleft The presence of a notch in the margin of the ala nasi. HP:0410070 Increased level of ribitol in urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410070 An increase in the level of ribitol in the urine. Ribotol is a crystalline pentose alcohol (C5H12O5) and is a metabolic end product formed by the reduction of ribose. HP:0040139 Lipogranulomatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040139 SNOMEDCT_US:189099001|SNOMEDCT_US:416439000|UMLS:C1704214|SNOMEDCT_US:36279001 Yellow nodules of lipoid material are deposited in the skin and mucosae. This gives rise to granulomatous reactions. HP:0410069 Increased level of propylene glycol in blood biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410069 Increased level of propane-1,2-diol in blood An increase in the level of propylene glycol in the blood. HP:0410068 Increased level of L-glutamic acid in blood biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410068 An increase in the level of L-glutamic acid in the blood. HP:0003189 Long nose biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003189 UMLS:C1839798 Increased nasal height|Long nose|Increased nasal length|Increased height of nose|Nasal elongation|Increased length of nose|Elongated 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. HP:0410063 Increased level of galactonate in red blood cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410063 Increased level of galactonate in erythrocytes|Increased level of galactonate in RBCs An increase in the level of galactonate in the red blood cells. HP:0003184 Decreased hip abduction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003184 UMLS:C1836589 Limited hip abduction Reduced ability to move the femur outward to the side. HP:0410062 Increased level of galactitol in urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410062 An increase in the level of galactitol in the urine. HP:0003183 Wide pubic symphysis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003183 UMLS:C1857190 Wide symphysis of pubis Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones. HP:0040130 Abnormal serum iron concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040130 UMLS:C0235760 HP:0003182 Shallow acetabular fossae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003182 UMLS:C1854910|UMLS:C1860796 Shallow acetabula|Shallow acetabular fossa|Shallow acetabulae|Shallow acetabulum HP:0410061 Increased level of galactitol in plasma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410061 An increase in the level of galactitol in the plasma. HP:0410060 Decreased level of D-mannose in urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410060 A decrease in the level of D-mannose in the urine. HP:0040133 Abnormal circulating ferritin concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040133 UMLS:C0853228 Abnormal serum ferritin|Abnormal plasma ferritin A deviation from the normal circulating concentration of ferritin. Ferritin concentration can be measured in serum or plasma. HP:0410067 Increased level of L-fucose in urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410067 An increase in the level of L-fucose in the urine. HP:0003187 Breast hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003187 UMLS:C0266013|SNOMEDCT_US:8915006 Underdeveloped breasts Underdevelopment of the breast. HP:0410066 Increased level of hippuric acid in urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410066 Increased level of N-benzoylglycine in urine An increase in the level of hippuric acid in the urine. HP:0040134 Abnormal hepatic iron concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040134 UMLS:C4022420 Abnormal liver iron level|Abnormal liver iron concentration HP:0410065 Increased level of hippuric acid in blood biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410065 Increased level of N-benzoylglycine in blood An increase in the level of hippuric acid in the blood. HP:0040131 Abnormal motor nerve conduction velocity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040131 UMLS:C4021031 HP:0003186 Inverted nipples biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003186 UMLS:C0269269|SNOMEDCT_US:82231009 Invaginated nipples|Inverted nipples The presence of nipples that instead of pointing outward are retracted inwards. HP:0410064 Increased level of galactitol in red blood cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410064 Increased level of galactitol in erythrocytes An increase in the level of galactitol in the red blood cells. HP:0003185 Short greater sciatic notch biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003185 UMLS:C1866689 Shortened sacroiliac notches|Small sacroiliac notch|Short sacroiliac notch The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch. HP:0040132 Abnormal sensory nerve conduction velocity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040132 UMLS:C4022421 HP:0040148 Cortical myoclonus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040148 SNOMEDCT_US:698835006|UMLS:C3698239 Cortical myoclonus mainly affects the distal upper limbs and face, which reflects the largest cortical representations of these body areas. It is often focal, but may be multifocal, bilateral or generalized, as a consequence of intracortical and transcallosal spreading of abnormal activity. It typically occurs on voluntary action and may affect speech and gait. Cortical myoclonic jerks are stimulus sensitive, typically to touch, but sensitivity to visual stimuli is also described. Most patients with cortical myoclonus have both positive myoclonus and NM, occurring either independently or together as a complex of the two kinds of myoclonus. If cortical myoclonus is prolonged and lasts for hours, days or weeks, it is called epilepsia partials continua and is considered to be a rare form of focal epileptic status. Focal cortical myoclonus almost always points to an underlining lesion of the sensori-motor cortex, which produces hyperexcitability (e.g. vascular, inflammatory or neoplastic). HP:0040149 Woolly scalp hair biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040149 UMLS:C4280293|UMLS:C4280292|UMLS:C4015203|UMLS:C4280291 Kinky scalp hair texture|Afro-textured scalp hair|Nappy scalp hair texture|Wooly scalp hair The presence of woolly hair on the scalp. The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. HP:0040146 D-2-hydroxyglutaric acidemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040146 UMLS:C4022415 HP:0040147 L-2-hydroxyglutaric acidemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040147 UMLS:C3888081 HP:0410059 Increased level of D-threitol in urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410059 An increase in the level of D-threitol in the urine. HP:0410058 Increased level of D-threitol in CSF biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410058 Increased level of D-threitol in cerebrospinal fluid An increase in the level of D-threitol in the cerebrospinal fluid. HP:0410057 Increased level of D-threitol in plasma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410057 An increase in the level of D-threitol in the plasma. HP:0410052 Increased level of allantoin in serum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410052 An increase in the level of allantoin in the serum. HP:0040140 Degeneration of the striatum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040140 UMLS:C4022417 HP:0040141 Tardive dyskinesia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040141 UMLS:C0686347|MSH:D000071057 HP:0003194 Short nasal bridge biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003194 UMLS:C1854689 Decreased length of nasal bridge|Decreased length of bridge of nose|Short bridge of nose|Short nasal bridge Decreased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. HP:0410051 Increased level of 3-hydroxy-3-methylglutaric acid in urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410051 An increase in the level of 3-hydroxy-3-methylglutaric acid in the urine. HP:0003193 Allergic rhinitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003193 MSH:D065631|UMLS:C2607914|SNOMEDCT_US:61582004|UMLS:C0847614 Hayfever|Hay fever|Nasal allergies It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea. HP:0410050 Decreased level of 1,5 anhydroglucitol in serum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410050 Decreased level of 1,5-anhydroglucitol in serum|Decreased level of 1,5-AG in serum|Decreased level of 1,5-anhydro-D-glucitol in serum A decrease in the level of 1,5 anhydroglucitol in the serum. 1,5-Anhydrosorbitol is a validated marker of short-term glycemic control. This substance is derived mainly from food, is well absorbed in the intestine, and is distributed to all organs and tissues. HP:0003199 Decreased muscle mass biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003199 UMLS:C1837108 Decreased muscle mass HP:0040144 L-2-hydroxyglutaric aciduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040144 SNOMEDCT_US:237961001|UMLS:C1855995 An increase in the level of L-2-hydroxyglutaric acid in the urine. HP:0410056 Decreased level of erythritol in CSF biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410056 Decreased level of erythritol in cerebrospinal fluid A decrease in the level of erythritol in the cerebrospinal fluid. HP:0003198 Myopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003198 MSH:D009135|UMLS:C0026848|SNOMEDCT_US:129565002 Myopathic changes|Muscle tissue disease A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. HP:0040145 Dicarboxylic acidemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040145 UMLS:C4022416 HP:0410055 Decreased level of erythritol in urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410055 A decrease in the level of erythritol in the urine. HP:0040142 Reduced 5-oxoprolinase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040142 SNOMEDCT_US:26132002|UMLS:C0268525|MSH:C535322 5-oxoprolinase deficiency Decreased level of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate. HP:0410054 Decreased level of GABA in serum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410054 Decreased level of gamma-aminobutyric acid in serum A decrease in the level of GABA in the serum. HP:0003196 Short nose biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003196 UMLS:C1854114|SNOMEDCT_US:249310005|UMLS:C0426414 Hypoplastic nose|Decreased length of nose|Nasal hypoplasia|Short nose|Small nose|Shortened nose Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. HP:0040143 Dystopic os odontoideum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040143 UMLS:C3552843 Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process. With orthotopic os odontoideum, the ossicle moves with the anterior arch of the atlas, while the dystopic type consists of an ossicle near the basion, or one that is fused with the clivus HP:0410053 Increased level of GABA in serum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410053 Increased level of gamma-aminobutyric acid in serum An increase in the level of GABA in the serum. HP:0040159 Abnormal spaced incisors biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040159 UMLS:C4022410 Abnormal spaced incisors|Abnormality of spacing of incisors|Abnormality of spacing of front teeth HP:0040157 Abnormal intermamillary distance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040157 UMLS:C4022412 HP:0040158 Short intermamillary distance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040158 UMLS:C4022411 HP:0003168 Dibasicaminoaciduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003168 UMLS:C4025643 An increased level of a dibasic amino acid in the urine. Dibasic amino acids are usually refered to simply as basic aminoacids because they contain basic side chains at neutral pH. These are arginine (Arg), lysine (Lys), and histidine (His). HP:0004499 Chronic rhinitis due to narrow nasal airway biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004499 UMLS:C4025318 Chronic nasal inflammation due to narrow nasal airway HP:0003167 Carnosinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003167 UMLS:C3495558|SNOMEDCT_US:410051001 High urine carnosine levels An increased concentration of carnosine in the urine. HP:0004493 Craniofacial hyperostosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0004493 UMLS:C4280517|UMLS:C4280516|UMLS:C1868085|UMLS:C4280518 Excessive growth of craniofacial bones|Enlargement of craniofacial bones|Overgrowth of craniofacial bones|Hyperostosis of craniofacial bones|Excessive bone growth of the skull and face|Hypertrophy of craniofacial bones|Increased ossification of craniofacial bones|Thick craniofacial bones Excessive growth of the craniofacial bones. HP:0040151 Epiblepharon of lower lid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040151 UMLS:C1851583|MSH:C565051 HP:0003162 Fasting hypoglycemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003162 MSH:D007003|SNOMEDCT_US:6974005|UMLS:C0271708 Low blood sugar when fasting HP:0003161 4-Hydroxyphenylpyruvic aciduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003161 UMLS:C1848678 Hydroxyphenylpyruvic aciduria Increased concentration of pyruvic acid in the urine. HP:0004492 Widely patent fontanelles and sutures biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004492 UMLS:C1849300 Widely patent fontanels and sutures An abnormally increased width of the cranial fontanelles and sutures. HP:0004491 Large posterior fontanelle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004491 UMLS:C1855233 Large posterior fontanel An enlargement of the posterior fontanelle relative to age-dependent norms. HP:0003160 Abnormal isoelectric focusing of serum transferrin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003160 UMLS:C2749688 Abnormal transferrin isoelectric focusing|Abnormal isoelectric focusing of serum transferrin Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded. HP:0004490 Calvarial hyperostosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004490 MSH:C537963|UMLS:C4280519|UMLS:C1863351|UMLS:C4280520 Increased ossification of calvarial bones|Thick calvarial bones|Overgrowth of skullcap|Overgrowth of calvarial bones|Hyperostosis of calvarial bones|Excessive growth of calvarial bones|Hypertrophy of calvarial bones|Enlargement of calvarial bones Excessive growth of the calvaria. HP:0040150 Epiblepharon of upper lid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040150 UMLS:C1851582|MSH:C565051 HP:0040155 Elevated urinary 3-hydroxybutyric acid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040155 UMLS:C4022414 An increased amount of 3-hydroxybutyric acid in the urine. HP:0003166 Increased urinary taurine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003166 UMLS:C3806447 Increased urinary taurine Increased concentration of taurine in the urine. HP:0003165 Elevated circulating parathyroid hormone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003165 UMLS:C0857973 Elevated serum parathyroid hormone level|Elevated serum parathyroid hormone|Elevated circulating PTH level|Increased serum parathyroid hormone|Elevated serum pth An abnormal increased concentration of parathyroid hormone. HP:0004496 Posterior choanal atresia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004496 MSH:C562435|UMLS:C0220723 Absence or abnormal closure of the posterior portion of the choana (the posterior nasal aperture). HP:0040156 Elevated urinary carboxylic acid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040156 UMLS:C4022413 An increased amount of carboxylic acid in the urine. HP:0004495 Thin anteverted nares biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004495 UMLS:C1834056 HP:0003164 Hypothalamic gonadotropin-releasing hormone deficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003164 UMLS:C4025644 Hypothalamic GNRH deficiency HP:0003163 Elevated urinary delta-aminolevulinic acid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003163 UMLS:C1848702 Elevated urinary delta-aminolevulinic acid An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine. HP:0040154 Acne inversa biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040154 UMLS:C0162836|MSH:D017497|SNOMEDCT_US:59393003 Pyoderma fistulans significa|Smoker's boils|Hidradenitis suppurativa|Verneuil's disease A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses. HP:0040168 obsolete Focal seizures, afebril biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040168 HP:0040169 Loose anagen hair biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040169 UMLS:C3554793 HP:0003180 Flat acetabular roof biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003180 UMLS:C1837485 Horizontal acetabular roof|Horizontal acetabular roofs|Horizontal acetabulae|Flattened acetabular roof|Flat acetabular roofs Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does. HP:0003179 Protrusio acetabuli biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003179 UMLS:C0409495|SNOMEDCT_US:59606006 Protrusio acetabulae Intrapelvic bulging of the medial acetabular wall. HP:0410074 Increased level of xylitol in urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410074 An increase in the level of xylitol in the urine. HP:0003173 Hypoplastic pubic bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003173 UMLS:C1865030 Hypoplastic pubic bones|Hypoplastic pubis Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone. HP:0040162 Orthokeratosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040162 SNOMEDCT_US:708474007|UMLS:C1843359 Formation of an anuclear keratin layer HP:0003172 Abnormality of the pubic bone biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003172 UMLS:C4021738 Abnormality of the pubic bone|Abnormality of the pubis|Abnormality of the pubic bones An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (publis, ilium, ischium) of the hip bone. HP:0040163 Abnormal pelvis bone morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040163 UMLS:C4073132 Abnormal shape of pelvis bone HP:0410073 Increased level of ribose in CSF biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410073 Increased level of ribose in cerebrospinal fluid An increase in the level of ribose in the cerebrospinal fluid. HP:0040160 Generalized osteoporosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040160 MSH:D010024|UMLS:C0029456|SNOMEDCT_US:64859006|UMLS:C3805887 Generalised osteoporosis|Generalized osteoporosis with pathologic fractures HP:0410072 Increased level of ribose in urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410072 An increase in the level of ribose in the urine. HP:0410071 Increased level of ribitol in CSF biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410071 Increased level of ribitol in cerebrospinal fluid An increase in the level of ribitol in the cerebral spinal fluid. HP:0003170 Abnormality of the acetabulum biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003170 UMLS:C4021739 Acetabular abnormality|Abnormality of the hipbone socket An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint. HP:0040161 Localized osteoporosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040161 UMLS:C1398367 Localised osteoporosis HP:0003177 Squared iliac bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003177 UMLS:C1838186 Square iliac bones|Squaring of iliac bones A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance. HP:0040166 Abnormality of the periosteum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040166 UMLS:C4073134 HP:0040167 Facial papilloma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040167 SNOMEDCT_US:240533004|UMLS:C0343643 Facial wart|Facial verruca HP:0003175 Hypoplastic ischia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003175 UMLS:C1859447 Hypoplastic ischii|Hypoplastic ischium|Hypoplastic ischial bones Underdevelopment of the ischium, which forms the lower and back part of the hip bone. HP:0040164 Lipomas of eyelids biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040164 UMLS:C4073133 Fatty tumors on the eyelids. Fatty tumors on the eyelids. HP:0003174 Abnormality of the ischium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003174 SNOMEDCT_US:93008005|UMLS:C0685661 Abnormality of the ischial bones|Anomaly of the ischium An anomaly of the ischium, which forms the lower and back part of the hip bone. HP:0040165 Periostitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040165 UMLS:C0031111|SNOMEDCT_US:41910004|MSH:D010522 Periostalgia Inflammation of the periosteum HP:0410075 Increased level of xylitol in CSF biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0410075 Increased level of xylitol in cerebrospinal fluid An increase in the level of xylitol in the cerebrospinal fluid. HP:0030770 Craniorachischisis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030770 SNOMEDCT_US:32219008|MSH:D009436|UMLS:C0152426 A neural tube defect in which both the brain and spinal cord remain open to varying degrees. HP:0030771 Mallet finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030771 SNOMEDCT_US:64298006|UMLS:C0158473 Mallet finger refers to a condition in which the end joint of a finger bends but will not straighten by itself. In this situation, the joint can be pushed straight but will not hold that position on its own. HP:0030772 Proximal femoral focal deficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030772 SNOMEDCT_US:205211001|UMLS:C0431996 Proximal femoral focal deficiency is a deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb. HP:0030773 Internuclear ophthalmoplegia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030773 MSH:D015835|UMLS:C0152134|SNOMEDCT_US:49823009 An abnormality of conjugate lateral gaze in which the affected eye shows impairment of adduction. The pathognomonic clinical sign of internuclear ophthalmoplegia is an impaired adduction while testing horizontal saccades on the side of the lesion in the ipsilateral medial longitudinal fascicule. HP:0030778 Modic type III vertebral endplate changes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030778 UMLS:C4280775 Modic type 3 vertebral endplate changes An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1 and T2-weighted sequences. Modic type III signals are thought to correspond to subchondral sclerosis seen on plain radiographs. HP:0030779 Ethmocephaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030779 UMLS:C0266680|SNOMEDCT_US:55709000 Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears. HP:0030774 Mitochondrial swelling biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030774 UMLS:C0026244|MSH:D008933|SNOMEDCT_US:125429001 The mitochondrial matrix refers to the substance occupying the space enclosed by the inner membrane of a mitochondrion, which contains enzymes, DNA, granules, and inclusions of protein crystals, glycogen, and lipid. Mitochondrial swelling refers to an increase in size of the mitochondrial matrix. This phenomenon is thought to be related to a permeabilized inner membrane that originates a large swelling in the mitochondrial matrix. Mitochondrial swelling may distend the outer membrane until it ruptures. HP:0030775 Modic type vertebral endplate changes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030775 UMLS:C4280778 An abnormal magnetic resonance tomography signal from a vertebral endplate according to a widely used classification published by Dr. Michael Modic. HP:0030776 Modic type I vertebral endplate changes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030776 UMLS:C4280777 Modic type 1 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. HP:0030777 Modic type II vertebral endplate changes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030777 UMLS:C4280776 Modic type 2 vertebral endplate changes An abnormal magnetic resonance tomography signal from a vertebral endplate with a high signal on T1-weighted sequences and high- or isointense signal on T2 sequences. Modic type II signals are thought to indicate fatty replacement in the bone marrow. HP:0040104 Osseous stenosis of the external auditory canal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040104 UMLS:C4022437 HP:0040102 Osseous atresia of the external auditory canal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040102 UMLS:C4022439 HP:0040103 Cutaneous stenosis of the external auditory canal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040103 UMLS:C4022438 HP:0040108 Morphological abnormality of the anterior semicircular canal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040108 UMLS:C4022435 HP:0040109 Morphological abnormality of the utricle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040109 UMLS:C4022434 HP:0040106 Morphological abnormality of the lateral semicircular canal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040106 UMLS:C4021034 Morphological abnormality of the horizontal semicircular canal HP:0040107 Morphological abnormality of the posterior semicircular canal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040107 UMLS:C4022436 HP:0030781 Increased circulating free fatty acid level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030781 UMLS:C4280773 A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues. HP:0030782 Abnormal serum interleukin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030782 UMLS:C4280772 Abnormal serum IL level An abnormal amount of any of the interleukins, a class of cytokines, in the circulation. HP:0030783 Increased circulating interleukin 6 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030783 UMLS:C4280771 Increased serum IL-6|Increased serum interleukin-6 An increased concentration of interleukin-6 in the circulation. HP:0030784 Anomia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030784 MSH:D000849|SNOMEDCT_US:10325006|UMLS:C0003113 Amnesic aphasia|Amnestic aphasia|Anomic aphasia|Nominal aphasia An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name. HP:0030780 Abnormality of the protein C anticoagulant pathway biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030780 UMLS:C4280774 An anomaly of the protein C anticoagulant pathway, which serves as a major system for controlling thrombosis, limiting inflammatory responses, and potentially decreasing endothelial cell apoptosis in response to inflammatory cytokines and ischemia. A natural anticoagulant system denoted the protein C pathway exerts its anticoagulant effect by regulating the activity of FVIIIa and FVa. The vitamin K-dependent protein C is the key component of the pathway. Activated protein C (APC) cleaves and inhibits coagulation cofactors FVIIIa and FVa, which result in downregulation of the activity of the coagulation system. The endothelial protein C receptor stimulates the T-TM-mediated activation of protein C on the endothelial cell surface. The two cofactors, protein S and the intact form of FV, enhance the anticoagulant activity of APC. HP:0030789 Excessive cerumen biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030789 UMLS:C1382811 An increased quantity of earwax. HP:0030785 Mediastinal cystic lymphangioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030785 UMLS:C4280770 Intrathoracic cystic hygroma|Thoracic cystic lymphangioma A lymphangioma (congenital malformation consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures) located within the mediastinum, i.e., the central compartment of the thoracic cavity that is surrounded by loose connective tissue. Mediastinal lymphangioma is a slow growing mass with benign features, and accounts for 1% of all mediastinal tumors. HP:0030786 Photopsia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030786 SNOMEDCT_US:56170001|UMLS:C0085635 Perceived flashes of light. HP:0030787 Cerumen abnormality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030787 UMLS:C4280769 Any anomaly of the cerumen (ear wax), the yellowish waxy substance secreted in the ear canal. HP:0030788 Impacted cerumen biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030788 UMLS:C0021092|SNOMEDCT_US:18070006 Blockage of the external auditory canal by a buildup of earwax. HP:0040100 Abnormality of the vestibular window biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040100 UMLS:C4021035 Abnormality of the oval window HP:0040101 Cutaneous atresia of the external auditory canal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040101 UMLS:C4022440 HP:0100105 Irregular epiphysis of the distal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100105 UMLS:C4022316 Irregular end part of the outermost bone of the 2nd toe HP:0040115 Abnormality of the Eustachian tube biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040115 UMLS:C0262475|SNOMEDCT_US:204250005 HP:0100106 Ivory epiphysis of the distal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100106 UMLS:C4022315 Increased bone density of end part of the outermost bone of the 2nd toe HP:0040116 Aplasia of the Eustachian tube biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040116 SNOMEDCT_US:75231006|UMLS:C0266616 Absent eustachian tube HP:0100103 Enlarged epiphysis of the distal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100103 UMLS:C4022318 Enlarged end part of the outermost bone of the 2nd toe HP:0040113 Old-aged sensorineural hearing impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040113 UMLS:C0033074|MSH:D011304|SNOMEDCT_US:49526009 Presbycusis HP:0100104 Fragmentation of the epiphysis of the distal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100104 UMLS:C4022317 Fragmentation of the end part of the outermost bone of the 2nd toe HP:0040114 Absence of the reflex of the tensor tympani muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040114 UMLS:C4022430 HP:0100101 Bracket epiphysis of the distal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100101 UMLS:C4022320 Bracket shaped end part of the outermost bone of the 2nd toe HP:0040119 Unilateral conductive hearing impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040119 UMLS:C4022428 HP:0100102 Cone-shaped epiphysis of the distal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100102 UMLS:C4022319 Cone-shaped end part of the outermost bone of the 2nd toe HP:0040117 Atresia of the Eustachian tube biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040117 UMLS:C1388953 HP:0100100 Absent epiphysis of the distal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100100 UMLS:C4022321 Absent end part of the outermost bone of the 2nd toe HP:0040118 Stenosis of the Eustachian tube biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040118 UMLS:C0271469|SNOMEDCT_US:80101003 HP:0030792 Jaw neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030792 MSH:D007573|SNOMEDCT_US:126634001|UMLS:C0022364 A tumor originating in the jaw (mandible or maxilla). HP:0030793 Jaw swelling biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030793 UMLS:C4280766 Abnormal enlargement in the upper jaw (maxilla) or in the lower jaw (mandible). HP:0030794 Abnormal C-peptide level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030794 UMLS:C4280765 Abnormal C peptide level An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion. HP:0030795 Reduced C-peptide level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030795 UMLS:C4280764 Reduced C peptide level A decreased concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with reduced insulin secretion. HP:0030790 Abnormal cerumen color biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030790 UMLS:C4280768 Abnormal cerumen colour|Abnormal cerumen pigmentation An anomolous earwax color. Earwax (cerumen) is usually light to dark brown or orange in color. HP:0030791 Abnormal jaw morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030791 UMLS:C4280767 A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla. HP:0030796 Increased C-peptide level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030796 UMLS:C4280763 Increased C peptide level An elevated concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with increased insulin secretion. HP:0030797 Reduced volume of central subdivision of bed nucleus of stria terminalis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030797 UMLS:C4280762 A diminished volume of the central part of the bed nucleus of the stria terminalis. HP:0030798 Abnormality of the bed nucleus of stria terminalis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030798 UMLS:C4280761 The stria terminalis is a slender, compact fiber bundle that connects the amygdala (amygdaloid body) with the hypothalamus and other basal forebrain regions. The bed nucleus of the stria terminalis is a limbic forebrain structure that receives heavy projections from, among other areas, the basolateral amygdala, and projects in turn to hypothalamic and brainstem target areas that mediate many of the autonomic and behavioral responses to aversive or threatening stimuli. This term refers to an anomaly of the bed nucleus. HP:0030799 Scaphocephaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030799 UMLS:C0265534|SNOMEDCT_US:4191007|MSH:D003398 Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis. HP:0100109 Stippling of the epiphysis of the distal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100109 UMLS:C4022312 Speckled calcifications in the end part of the outermost bone of the 2nd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd toe. HP:0040111 Bilateral external ear deformity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040111 UMLS:C4022432 HP:0040112 Abnormal number of tubercles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040112 UMLS:C4022431 HP:0100107 Pseudoepiphysis of the distal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100107 UMLS:C4022314 HP:0040110 Morphological abnormality of the saccule biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040110 UMLS:C4022433 HP:0100108 Small epiphysis of the distal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100108 UMLS:C4022313 Small end part of the outermost bone of the 2nd toe HP:0040126 Abnormal vitamin B12 level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040126 UMLS:C4021032 Abnormal serum cobalamin level A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins. HP:0100116 Irregular epiphysis of the middle phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100116 UMLS:C4022305 Irregular end part of the middle bone of the 2nd toe HP:0100117 Ivory epiphysis of the middle phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100117 UMLS:C4022304 Increased bone density of end part of the middle bone of the 2nd toe HP:0040127 Abnormal sweat homeostasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040127 UMLS:C4022423 An abnormality of the composition of sweat or the levels of its components. HP:0100114 Enlarged epiphysis of the middle phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100114 UMLS:C4022307 Enlarged end part of the middle bone of the 2nd toe HP:0040124 Patent tuba eustachii biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040124 UMLS:C4021033 Open tuba eustachii HP:0100115 Fragmentation of the epiphysis of the middle phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100115 UMLS:C4022306 Fragmentation of the end part of the middle bone of the 2nd toe HP:0100112 Bracket epiphysis of the middle phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100112 UMLS:C4022309 Bracket shaped end part of the middle bone of the 2nd toe HP:0100113 Cone-shaped epiphysis of the middle phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100113 UMLS:C4022308 Cone-shaped end part of the middle bone of the 2nd toe HP:0100110 Triangular epiphysis of the distal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100110 UMLS:C4022311 Triangular end part of the outermost bone of the 2nd toe HP:0040128 Abnormal sweat electrolytes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040128 UMLS:C4022422 HP:0040129 Abnormal nerve conduction velocity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040129 UMLS:C1866772 Nerve conduction abnormalities|Abnormal nerve conduction|Abnormal nerve conduction velocities HP:0100111 Absent epiphysis of the middle phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100111 UMLS:C4022310 Absent end part of the middle bone of the 2nd toe HP:0040122 Impairment of the the acoustic reflex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040122 UMLS:C4022425 HP:0040123 Impairment of the reflex of the tensor tympani muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040123 UMLS:C4022424 HP:0100118 Pseudoepiphysis of the middle phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100118 UMLS:C4022303 HP:0040120 Abnormality of the reflex of the tensor tympani muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040120 UMLS:C4022427 HP:0100119 Small epiphysis of the middle phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100119 UMLS:C4022302 Small end part of the middle bone of the 2nd toe HP:0040121 Abnormality of the acoustic reflex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0040121 UMLS:C4022426 Abnormal auditory reflex|Abnormal middle-ear-muscles (MEM) reflex|Abnormality of stapedial reflex An abnormality in the reflexive contraction of the middle-ear muscles in response to sound stimulation. HP:0003109 Hyperphosphaturia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003109 UMLS:C0948023|SNOMEDCT_US:22450000|UMLS:C0268079 High urine phosphate levels|Phosphaturia An increased excretion of phosphates in the urine. HP:0005767 1-2 toe complete cutaneous syndactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005767 UMLS:C4025140 HP:0005768 2-4 toe cutaneous syndactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005768 UMLS:C4021622 Webbed second, third and fourth toes|Webbed 2nd, 3rd and 4th toes|Soft tissue syndactyly of toes 2, 3, and 4 A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4. HP:0004434 Decreased serum complement C8 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004434 UMLS:C3151082 C8 deficiency A reduced level of the complement component C8 in circulation. HP:0003103 Abnormal cortical bone morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003103 UMLS:C4021741 Abnormal compact bone morphology|Abnormality of cortical bone An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones. HP:0030735 Ureterovesical junction obstruction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030735 UMLS:C2609249 Blockage at the level of the bladder and the ureter caused by stenosis of the ureteral valves or failure of a narrow juxtavesical ureteral segment to dilate due to segmented fibrosis or localized absence of muscle. HP:0004433 Secretory IgA deficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004433 SNOMEDCT_US:234554004|MSH:C562869|UMLS:C0398709 Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens. HP:0030736 Sacrococcygeal teratoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030736 UMLS:C0559459|SNOMEDCT_US:281561000 A teratoma arising in the sacro-coccygeal region. HP:0005769 Fifth finger distal phalanx clinodactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005769 UMLS:C4280477|UMLS:C4025139 Curvature of outermost bone of pinky finger|Curvature of outermost bone of little finger|Curvature of outermost bone of pinkie finger Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger). HP:0003102 Increased carrying angle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003102 UMLS:C1855478 An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm. HP:0004432 Agammaglobulinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004432 UMLS:C0001768|MSH:D000361|SNOMEDCT_US:119249001 Agammaglobulinaemia A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured. HP:0030737 Altman type I sacrococcygeal teratoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030737 UMLS:C4280795 A type of sacrococcygeal teratoma that is predominantly external and projects from the sacrococcygeal region and presents with distortion of the buttocks. HP:0004439 Craniofacial dysostosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004439 UMLS:C0010273|MSH:D003394|SNOMEDCT_US:28861008 Crouzon syndrome A characteristic appearance resulting from defective ossification of craniofacial bones. HP:0003108 Hyperglycinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003108 SNOMEDCT_US:236477004|MSH:C563009|UMLS:C0543541|UMLS:C0341706 Glycinuria|High urine glycine levels An increased concentration of glycine in the urine. HP:0030730 Parietal meningocele biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030730 UMLS:C4280797 A herniation of meninges through a congenital bone defect in the skull in the parietal region. HP:0003107 Abnormal circulating cholesterol concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003107 UMLS:C4025656 Abnormality of cholesterol metabolism|Abnormal cholesterol homeostasis Any deviation from the normal concentration of cholesterol in the blood circulation. HP:0004438 Hyperostosis frontalis interna biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004438 SNOMEDCT_US:82054006|UMLS:C4280526|UMLS:C4280525|UMLS:C4280524|MSH:D006957|UMLS:C0020494|UMLS:C4280527 Thick inner surface of the frontal bone|Hypertrophy of the internal surface of the frontal bone|Excessive growth of inner surface of the frontal bone|Thick internal surface of the frontal bone|Increased ossification of the internal surface of the frontal bone|Overgrowth of the inside of the frontal bone|Overgrowth of the inner surface of the frontal bone|Enlargement of the inner surface of the frontal bone|Hyperostosis of the internal surface of the frontal bone Bony overgrowth of the internal (endosteal) surface of the frontal bone. HP:0030731 Carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030731 NCIT:C2916|MSH:D002277|UMLS:C0007097|SNOMEDCT_US:68453008 A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus). HP:0005764 Polyarticular arthritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005764 UMLS:C0162323|SNOMEDCT_US:416956002|MSH:D001168|SNOMEDCT_US:417373000 HP:0030732 Dysplastic tricuspid valve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030732 UMLS:C4255215 Tricuspid valve dysplasia A congenital malformation of the tricuspid valve characterized by leaflet deformation. HP:0004437 Cranial hyperostosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004437 UMLS:C1832451|UMLS:C4280529|UMLS:C4280531|UMLS:C4280528|UMLS:C4280530 Overgrowth of skull bones|Hyperostosis of cranial vault|Enlargement of skull bones|Excessive growth of skull bones|Increased ossification of cranial bones|Hyperostosis of cranial bones|Hypertrophy of cranial bones|Thick skull bones Excessive growth of the bones of cranium, i.e., of the skull. HP:0003106 Subperiosteal bone resorption biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003106 UMLS:C1848541 Subperiosteal erosions Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone. HP:0005765 Sacral meningocele biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005765 SNOMEDCT_US:95478002|UMLS:C0521556 HP:0005766 Disproportionate shortening of the tibia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005766 UMLS:C3806516 Marked shortening of tibia|Disproportionate shortening of the shinbone|Disproportionate shortening of the shankbone HP:0030733 Vesicoallantoic abdominal wall defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030733 UMLS:C4280796 An abdominal wall defected related to a developmental anomaly of the allantois, which is an embryonic structure that develops as a diverticulum off the yolk sac at about 16 days post fertilization. During further development, the allantois becomes incorporated into the body of the embryo, connecting the ventral aspect of the urogenital sinus (which will develop into the upper pole of the urinary bladder) to the external portion of the umbilicus. Upon further development, the lumen of the allantois becomes obliterated and forms a thick fibrous cord called the urachus, which connects the apex of the bladder to the umbilicus. In adults, the urachus is known as the median umbilical ligament. Failure of the allantoic cavity to obliterate can result of one of four conditions: 1) congenital patent urachus (a completely open connection between bladder and umbilicus); 2) vesicourachal diverticulum (a diverticulum off the bladder but not communicating with the umbilicus); umbilical cyst and sinus (not communicating with the bladder); and 4) alternating urachal sinus. An abdominal wall defect can be associated with a urachal cyst. HP:0003105 Protuberances at ends of long bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003105 UMLS:C1851418 Protuberances at ends of long bones The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones. HP:0003100 Slender long bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003100 UMLS:C1833144 Gracile long bones|Slender, gracile long tubular bones|Slender long bone|Slender long bones|Thin gracile long bones|Long bones slender|Thin long bones|Thin, gracile long bones Reduced diameter of a long bone. HP:0004431 Complement deficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004431 UMLS:C0272242|SNOMEDCT_US:24743004 An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins. HP:0030738 Altman type II sacrococcygeal teratoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030738 UMLS:C4280794 A type of sacrococcygeal teratoma that is predominantly external but has a large intrapelvic component. HP:0004430 Severe combined immunodeficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004430 SNOMEDCT_US:31323000|MSH:D016511|UMLS:C0085110 Immunodeficiency, severe combined A combined immunodeficiency primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems. HP:0030739 Altman type III sacrococcygeal teratoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030739 UMLS:C4280793 A type of sacrococcygeal teratoma that is predominantly intrapelvic with a small external, buttock mass. HP:0030740 Anomalous muscle bundle of the right ventricle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030740 UMLS:C4280792 Right ventricular anomalous muscle bundle An accessory (not normally present) muscle bundle in the right ventricle which obstructs the right ventricular outflow tract. HP:0003115 Abnormal EKG biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003115 SNOMEDCT_US:102594003|UMLS:C0522055 Abnormal EKG|EKG abnormality|Abnormal electrocardiogram|Abnormal ECG Abnormal rhythm of the heart. HP:0004446 Stomatocytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004446 UMLS:C0677598 Red cell stomatocytosis|erythrocyte stomatocytes The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear. HP:0030745 Dilatation of the ductus arteriosus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030745 UMLS:C0398357|SNOMEDCT_US:233990006 Congenital ductus arteriosus aneurysm|Ductus arteriosus aneurysm A saccular or fusiform dilation and elongation of the ductus arteriosus. HP:0030746 Intraventricular hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030746 UMLS:C0240059|SNOMEDCT_US:23276006 Intraventricular haemorrhage Bleeding into the ventricles of the brain. HP:0004445 Elliptocytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004445 SNOMEDCT_US:191169008|MSH:D004612|SNOMEDCT_US:250242004|UMLS:C0427480|SNOMEDCT_US:178935009|UMLS:C0013902 Elliptocyte|Ovalocytosis|Ovalocytes|Hereditary elliptocytosis The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear. HP:0003114 obsolete Abnormal cardiological findings biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003114 HP:0004444 Spherocytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004444 UMLS:C0553720|SNOMEDCT_US:17235000 The presence of erythrocytes that are sphere-shaped. HP:0030747 Preterm intraventricular hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030747 UMLS:C4280789 Preterm intraventricular haemorrhage Intraventricular hemorrhage that occurs in a premature infant. HP:0003113 Hypochloremia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003113 SNOMEDCT_US:10399008|UMLS:C0085680|UMLS:C0595901 Low blood chloride levels An abnormally decreased chloride concentration in the blood. HP:0030748 Grade I preterm intraventricular hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030748 UMLS:C0475737|SNOMEDCT_US:276650005 Grade I preterm intraventricular haemorrhage|Germinal matrix hemorrhage Intraventricular hemorrhage that occurs in a preterm infant and that is restricted to subependymal region/germline matrix which is seen in the caudothalamic groove. HP:0004443 Lambdoidal craniosynostosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0004443 MSH:D003398|UMLS:C1833340|SNOMEDCT_US:109417006 Lambdoid suture craniosynostosis|Lambdoid suture synostosis A kind of craniosynostosis affecting the lambdoidal suture. HP:0003112 Abnormal circulating amino acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003112 UMLS:C4025653 Abnormality of serum amino acid levels|Abnormality of serum amino acid level The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation. HP:0003119 Abnormal circulating lipid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003119 SNOMEDCT_US:370992007|UMLS:C4025650|UMLS:C0242339|MSH:D050171 Dyslipidemia Any deviation from the normal concentration of a lipid in the blood circulation. HP:0030741 Mediastinal teratoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030741 NCIT:C6438|UMLS:C1334682 Teratoma of the mediastinum A teratoma located within the mediastinum (the cavity between the pleural sacs that contains the heart and all of the thoracic viscera except the lungs). HP:0003118 Increased circulating cortisol level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003118 UMLS:C0342443|UMLS:C0001622|SNOMEDCT_US:47270006|SNOMEDCT_US:237735008|UMLS:C4025651|MSH:D000308|SNOMEDCT_US:275437005 Cushing syndrome|Hypercortisolism|Increased cortisol production|Increased circulating cortisol level Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features. HP:0030742 Glial remnants posterior to lens biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030742 SNOMEDCT_US:370483001|UMLS:C1299892 Mittendorf dot This anomaly, also known as Mittendorf dot, is a benign, nonprogressive recognizable lesion that does not cause visual impairment. However, it can resemble a pathological congenital or acquired cataract lesion which may enlarge and cause visual impairment. The dot appears as a black speck that ranges in size from the dot made by a sharp pencil point to the size of a poppy seed. It is usually well defined, although occasionally there may be irregular, fine lines radiating outward from the dot. HP:0005775 Multiple skeletal anomalies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005775 UMLS:C4025138 HP:0030743 Glial remnants anterior to the optic disc biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030743 UMLS:C4280791 Bergmeister papilla Persistance of a posterior remnant of the hyaloid artery located at the optic disc. HP:0005776 Carpal bone malsegmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005776 UMLS:C4025137 HP:0003117 Abnormal circulating hormone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003117 UMLS:C4025652 Abnormality of circulating hormone level An abnormal concentration of a hormone in the blood. HP:0004448 Fulminant hepatic failure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004448 SNOMEDCT_US:197270009|SNOMEDCT_US:235884008|UMLS:C0162557|MSH:D017114 Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver. HP:0004447 Poikilocytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004447 SNOMEDCT_US:165479004|UMLS:C0221281 The presence of abnormally shaped erythrocytes. HP:0003116 Abnormal echocardiogram biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003116 SNOMEDCT_US:169241000|UMLS:C0476369 Abnormal echocardiography|Abnormal echocardiogram An abnormality detectable by sonography of the heart (echocardiography). HP:0030744 Hyaloid vascular remnant and retrolental mass biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030744 UMLS:C4280790 A type of persistance of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract. HP:0005772 Aplasia/Hypoplasia of the tibia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005772 UMLS:C1969181 Absent/hypoplastic tibia|Absent/small shinbone|Absent/underdeveloped shinbone|Aplastic/hypoplastic tibia|Absent/underdeveloped shankbone|Absent/small shankbone Absence or underdevelopment of the tibia. HP:0005773 Short forearm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005773 UMLS:C1855299 Short forearm Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm. HP:0030749 Grade II preterm intraventricular hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030749 UMLS:C4280788 Grade II preterm intraventricular haemorrhage Intraventricular hemorrhage that occurs in a preterm infant and that has extension into normal-sized ventricles and typically fills less than 50% of the volume of the ventricle. HP:0003111 Abnormal blood ion concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003111 SNOMEDCT_US:237840007|UMLS:C4025654|UMLS:C1704431 Electrolyte disorders|Abnormality of ion homeostasis Abnormality of the homeostasis (concentration) of a monoatomic ion. HP:0004442 Sagittal craniosynostosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0004442 UMLS:C0432123|SNOMEDCT_US:109418001 Craniosynostosis, sagittal|Craniosynostosis, sagittal suture|Early closure of midline skull joint|Sagittal suture synostosis|Midline skull joint closes early A kind of craniosynostosis affecting the sagittal suture. HP:0003110 Abnormality of urine homeostasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003110 UMLS:C4025655 Pee issues|Urine issues An abnormality of the composition of urine or the levels of its components. HP:0004440 Coronal craniosynostosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0004440 UMLS:C1856266 Craniosynostosis of coronal suture|Coronal suture synostosis|Coronal suture craniosynostosis Premature closure of the coronal suture of skull. HP:0004419 Recurrent thrombophlebitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004419 UMLS:C3550150 Recurrent phlebitis|Recurrent thrombosis Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein). HP:0030750 Grade III preterm intraventricular hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030750 UMLS:C4280787 Grade III preterm intraventricular haemorrhage Intraventricular hemorrhage that occurs in a preterm infant and that has extension into dilated ventricles. HP:0004418 Thrombophlebitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004418 SNOMEDCT_US:64156001|UMLS:C0040046|MSH:D013924 Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein). HP:0030751 Grade IV preterm intraventricular hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030751 UMLS:C4280786 Grade IV preterm intraventricular haemorrhage Intraventricular hemorrhage that occurs in a preterm infant and that shows parenchymal extension. HP:0030756 Erythrodontia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030756 UMLS:C4280783 Red teeth Reddish, brown opalescent discoloration of teeth in normal light. HP:0005745 Congenital foot contractures biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005745 UMLS:C4025144 HP:0030757 Tooth abscess biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030757 SNOMEDCT_US:299709002|UMLS:C0518988 Dentoalveolar abscess|Dental abscess A pocket of pus located within a region of a tooth. HP:0005746 Osteosclerosis of the base of the skull biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005746 UMLS:C4021624 Osteosclerosis of the skull base An increase in bone density affecting the basicranium (base of the skull). HP:0030758 Periapical tooth abscess biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030758 UMLS:C4280782 A tooth abscess that occurs at the tip of the root (apex) of a tooth. HP:0004411 Deviated nasal septum biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0004411 UMLS:C0549397|SNOMEDCT_US:126660000 Deviated nasal septum|Deviated septum of nose|Crooked nasal septum|Crooked septum of nose Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum. HP:0005747 Easily subluxated first metacarpophalangeal joints biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005747 UMLS:C4025143 HP:0030759 Adipocyte hypertrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030759 UMLS:C4280781 Fat cell 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. HP:0004417 Intermittent claudication biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004417 MSH:D007383|UMLS:C0021775|SNOMEDCT_US:63491006 Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still. HP:0030752 Dacryocystocele biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030752 UMLS:C0155241|SNOMEDCT_US:42758002 Timo cyst A nasolacrimal duct obstruction presenting as a grey-blue cystic swelling just below the medial canthus. Believed to be a result of concomitant upper obstruction of the Rosenmuller valve and lower obstruction of the Hasner valve. HP:0030753 Intrauterine fetal demise of one twin after midgestation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030753 UMLS:C4280785 Intrauterine foetal demise of one twin after midgestation|Single-twin demise Loss of one twin occurring after midgestation (17 weeks gestation). HP:0004416 Precocious atherosclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004416 UMLS:C4021654|UMLS:C4280264 Premature plaque build-up in arteries|Premature atherosclerosis HP:0004415 Pulmonary artery stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004415 UMLS:C0238397|SNOMEDCT_US:95441000|Fyler:1622|MSH:D000071079 Narrowing of lung artery An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. HP:0005743 Avascular necrosis of the capital femoral epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005743 ICD-10:M91.1|SNOMEDCT_US:240241003|UMLS:C0023234|SNOMEDCT_US:111255008|MSH:D007873 Legg-Calve-Perthes syndrome|Coxa plana|Osteochondrosis of the femoral head|Perthes-like femoral head changes|Legg-Perthes disease|Morbus Legg-Calve-Perthes|Osteonecrosis of the femoral head Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature. HP:0030754 Allantoic cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030754 MSH:D014496|SNOMEDCT_US:17234001|UMLS:C0041915 A swelling formed at the base of umbilicus associated with a patent urachus which results from an allantoic remnant. The urachus is a fibrous remnant of the allantois which communicates from the apex of the urinary bladder to the umbilicus. Failed obliteration of the urachus can lead to various abnormalities: urachal cyst, urachal diverticulum, sinus or patent urachus - the most common type. Allantoic cysts in infants with patent urachus can be formed due to the drainage of urine into the umbilical cord, or in uncommon situations, after leakage of hypo-osmotic urine into the Wharton's jelly. HP:0030755 Craniofacial teratoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030755 NCIT:C3403|UMLS:C4280784 A teratoma located in the craniofacial region. HP:0004414 Abnormality of the pulmonary artery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004414 SNOMEDCT_US:198914002|SNOMEDCT_US:128588008|SNOMEDCT_US:36110001|UMLS:C0009681 Abnormality of lung artery An abnormality of the pulmonary artery. HP:0005744 obsolete Generalized osteoporosis with pathologic fractures biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005744 HP:0030760 Renal fibrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030760 SNOMEDCT_US:197660000|UMLS:C0151650 Kidney fibrosis Renal fibrosis is the consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. HP:0030761 obsolete Renal glomerular fibrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030761 HP:0030762 Mesangiolysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030762 UMLS:C4054531 Partial or complete dissolution of the mesangial matrix, identified by reduced staining on a periodic acid-Schiff (PAS) or silver stain. HP:0004429 Recurrent viral infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004429 UMLS:C1837066 Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection. HP:0030767 Epignathus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030767 SNOMEDCT_US:31248004|UMLS:C0266725 Epignathus is a teratoma originating from the upper jaw, usually connected with the sphenoid bone or hard palate. HP:0005756 Neonatal epiphyseal stippling biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005756 UMLS:C4021623 Speckled calcifications in bone end parts in neonates|Epiphyseal stippling in neonates The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period. HP:0004423 Cranium bifidum occultum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004423 UMLS:C1868598|MSH:C566826|SNOMEDCT_US:718099006 HP:0004422 Biparietal narrowing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004422 UMLS:C4280532|UMLS:C1854418 Decreased width of the skull A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull). HP:0005758 Basilar impression biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005758 UMLS:C0032209|SNOMEDCT_US:86587003|MSH:D010985 Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum. HP:0030769 Exencephaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030769 SNOMEDCT_US:84461004|MSH:D009436|UMLS:C0266453 A malformation of the neural tube with a large amount of protruding brain tissue and absence of calvarium. HP:0005759 Small flat posterior fossa biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005759 UMLS:C4025141 Small and flat posterior fossa of skull|Small and flat posterior skull bones An abnormally small and flat configuration of the posterior cranial fossa. HP:0004421 Elevated systolic blood pressure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004421 UMLS:C1840374 Elevated systolic BP Abnormal increase in systolic blood pressure. HP:0004428 Elfin facies biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0004428 SNOMEDCT_US:69288002|UMLS:C0332606 Elf-like facial features|Elf-like facial appearance|Leprechaun facies This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations. HP:0005752 Flattened moderately deformed vertebrae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005752 UMLS:C4025142 HP:0030763 Amniotic Sheet biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030763 UMLS:C4280779 Amniotic shelf A sheet like projection that can result from uterine synechiae that has been encompassed by the expanding chorion and amnion. HP:0030764 Ochronosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030764 MSH:D009794|UMLS:C0028817|SNOMEDCT_US:410042009 Brown or blue-gray discoloration of the skin that can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved. HP:0030765 Sleep terror biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030765 UMLS:C0037320|MSH:D020184|SNOMEDCT_US:89675003 Sleep terrors|Pavor nocturnus|Night terror Episodes of intense fear, screaming and flailing although affected individuals are still asleep. HP:0004426 Abnormality of the cheek biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004426 UMLS:C4025324 Anomaly of the cheeks|Abnormality of the cheek|Deformity of the cheeks|Malformation of the cheeks|Abnormality of the cheeks An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. "Buccal" means relating to the cheek. The cheek is part of the midface HP:0004425 Flat forehead biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004425 UMLS:C1857485 Flat forehead|Frontal flattening|Flattened forehead A forehead with abnormal flatness. HP:0030766 Ear pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030766 SNOMEDCT_US:16001004|SNOMEDCT_US:162356005|MSH:D004433|UMLS:C0013456 Otalgia|Ear pain|Pain in the ear Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia). HP:0005750 Contractures of the joints of the lower limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005750 UMLS:C1859523 Contractures, lower limbs HP:0004420 Arterial thrombosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004420 SNOMEDCT_US:65198009|UMLS:C0151942 Blood clot in artery The formation of a blood clot inside an artery. HP:0003148 Elevated serum acid phosphatase biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003148 UMLS:C1839866 Elevated serum acid phosphatase|Acid phosphatase elevated HP:0004478 Ethmoidal encephalocele biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004478 UMLS:C1843495 HP:0003146 Hypocholesterolemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003146 SNOMEDCT_US:61336008|UMLS:C0151718 Decreased circulating cholesterol level An decreased concentration of cholesterol in the blood. HP:0004476 Aplasia cutis congenita over parietal area biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004476 UMLS:C1863492 Absent cutis congenita over parietal area A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area. HP:0003145 Decreased adenosylcobalamin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003145 UMLS:C1848556 Decreased ADOCBL Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12. HP:0003149 Hyperuricosuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003149 UMLS:C0948643 High urine uric acid level An abnormally high level of uric acid in the urine. HP:0003140 T-wave inversion in the right precordial leads biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003140 UMLS:C4025646 HP:0004471 Aplasia cutis congenita over the scalp vertex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004471 UMLS:C1970112 Absent cutis congenita of vertex|Aplasia cutis congenita of vertex A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline. HP:0004470 Atretic occipital cephalocele biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004470 UMLS:C1836600 A congenital defect in the occipital region of the skull, covered by skin of the scalp and containing meninges or remnants of glial or neural tissues. HP:0003144 Increased serum serotonin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003144 UMLS:C0877243 Increased serum serotonin A increased concentration of serotonin in the blood. HP:0004474 Persistent open anterior fontanelle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004474 UMLS:C1849537 Front fontanelle stays open|Anterior fontanelle open in adults|Persistent, open anterior fontanel The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age. HP:0003142 Excessive purine production biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003142 UMLS:C4025645 HP:0003141 Increased LDL cholesterol concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003141 SNOMEDCT_US:398036000|UMLS:C0549399|MSH:D006938|UMLS:C0020445|SNOMEDCT_US:190773008 Hyperbetalipoproteinemia|Increased circulating low-density lipoprotein cholesterol|Increased beta-lipoproteins|Increased circulating low-density lipoprotein levels|Increased LDL cholesterol|Increased circulating LDL level|Increased plasma LDL levels|Increased LDLc concentration An elevated concentration of low-density lipoprotein cholesterol in the blood. HP:0004472 Mandibular hyperostosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004472 UMLS:C4280523|UMLS:C4280522|UMLS:C4025321|UMLS:C4280521 Thick lower jaw bone|Thick mandibular bone|Increased ossification of mandibular bone|Overgrowth of mandibular bone|Hyperostosis of lower jaw|Hyperostosis of mandibular bone|Increased ossification of lower jaw|Increased ossification of mandible|Excessive growth of mandibular bone Hyperostosis (bony overgrowth) of the mandible. HP:0003159 Hyperoxaluria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003159 MSH:D006959|UMLS:C0020500|SNOMEDCT_US:367621000119107 Increased level of oxalate in urine|High urine oxalate levels Increased excretion of oxalates in the urine. HP:0003158 Hyposthenuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003158 SNOMEDCT_US:76023003|UMLS:C0232831 Reduced urinary osmolality An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine. HP:0004488 Macrocephaly at birth biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0004488 UMLS:C1836599 Large skull present at birth|Big cranium present since birth|Big head present at birth|Head circumference large for gestational age|Congenital large skull|Large head present at birth|Congenital large cranium|Big skull present at birth|Large cranium present since birth|Large head present since birth|Big skull present since birth|Large cranium present at birth|Congenital large head|Congenital macrocephaly|Large skull present since birth|Big head present since birth|Big cranium present at birth The presence of an abnormally large skull with onset at birth. HP:0004487 Acrobrachycephaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004487 SNOMEDCT_US:711039004|UMLS:C1863395 An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures. HP:0004482 Relative macrocephaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004482 SNOMEDCT_US:3961000119101|UMLS:C1849075 Macrocephaly, relative|Relatively large head|Disproportionately large head A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account. HP:0030709 Myelocystocele biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030709 SNOMEDCT_US:414667000|SNOMEDCT_US:203994003|UMLS:C0025312|MSH:D008591 Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst. HP:0003150 Glutaric aciduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003150 SNOMEDCT_US:28987007|UMLS:C0268594 Glutarate aciduria|Increased glutarate level in urine|Glutaricaciduria An increased concentration of glutaric acid in the urine. HP:0004481 Progressive macrocephaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004481 UMLS:C1859896 Macrocephaly, progressive|Progressively abnormally enlarging skull|Progressively abnormally enlarging cranium The progressive development of an abnormally large skull. HP:0003155 Elevated alkaline phosphatase biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003155 UMLS:C0750857 Hyperphosphatasia|Increased alkaline phosphatase|Increased serum alkaline phosphatase|High serum alkaline phosphatase|Elevated alkaline phosphatase|Elevated ALP|Hyperphosphatasemia|Greatly elevated alkaline phosphatase Abnormally increased serum levels of alkaline phosphatase activity. HP:0004485 Cessation of head growth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004485 UMLS:C4025319 Skull stopped growing|Head stopped growing|Cranium stopped growing Stagnation of head growth seen as flattening of the head circumference curve. HP:0030706 Ranula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030706 MSH:D011900|UMLS:C2242813|SNOMEDCT_US:14919007 Sublingual cyst|Sublingual ptyalocele A ranula is a mucocele that occurs in the floor of the mouth and usually involve the major salivary glands. Specifically, the ranula originates in the body of the sublingual gland, in the ducts of the sublingual gland, in the Wharton's duct of the submandibular gland or infrequently from the minor salivary glands at this location. HP:0003154 Increased circulating ACTH level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003154 UMLS:C4021740 Increased plasma ACTH|Increased circulating ACTH level|High blood corticotropin levels An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood. HP:0003153 Cystathioninuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003153 SNOMEDCT_US:13003007|UMLS:C0220993 High urine cystathionine levels An elevated urinary concentration of cystathionine. HP:0004484 Craniofacial asymmetry biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004484 UMLS:C4025320 Abnormality of craniofacial shape|Uneven craniofacial structures|Malformation of craniofacial shape Asymmetry of the bones of the skull and the face. HP:0030707 Unilateral lung agenesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030707 UMLS:C4082952|MSH:C562992 Unilateral pulmonary agenesis Lack of development of one lung. HP:0030708 Myeloschisis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030708 SNOMEDCT_US:360530005|UMLS:C0266507 The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane. HP:0003152 obsolete Increased serum 1,25-dihydroxyvitamin D3 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003152 HP:0005789 Generalized osteosclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005789 UMLS:C1843331|UMLS:C4280476 Generalised osteosclerosis|Increased bone density in skeletal bones|Osteosclerosis, diffuse symmetrical|Diffuse, symmetrical osteosclerosis An abnormal increase of bone mineral density with generalized involvement of the skeleton. HP:0003126 Low-molecular-weight proteinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003126 UMLS:C1839606 Tubular proteinuria Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD). HP:0030712 Uterine synechiae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030712 MSH:D006175|SNOMEDCT_US:48236007|UMLS:C0156372 Asherman syndrome Adhesions or scar tissue that form inside the cavity of the uterus. HP:0003125 Reduced factor VIII activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003125 MSH:D006467|SNOMEDCT_US:234440005|UMLS:C3494187|UMLS:C4025649 Factor VIII deficiency Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. HP:0030713 Vein of Galen aneurysmal malformation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030713 MSH:C536535|SNOMEDCT_US:253194008|UMLS:C0431420 Vein of Galen malformation|Median prosencephalic arteriovenous fistula|Vein of Galen aneurysm Gross dilatation of the vein of Galen, being fed by large anomalous vessel or vessels arising from the carotid or basilar circulation. HP:0003124 Hypercholesterolemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003124 SNOMEDCT_US:13644009|MSH:D006937|UMLS:C0595929|SNOMEDCT_US:166830008|UMLS:C0020443 High cholesterol|Increased total cholesterol|Elevated serum cholesterol|Elevated total cholesterol An increased concentration of cholesterol in the blood. HP:0030714 Subchorionic thrombohematoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030714 UMLS:C1390676 Breus' mole A large maternal clot that separates the chorionic plate from the villous chorion. HP:0004454 Abnormal middle ear reflexes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004454 UMLS:C1970887 HP:0030715 Bronchial atresia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030715 SNOMEDCT_US:50513008|UMLS:C0265776 Congenital bronchial atresia A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis. HP:0004459 Exostosis of the external auditory canal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004459 UMLS:C0155411|SNOMEDCT_US:19560007 External auditory canal exostoses A benign bony growth projecting outward from a bone surface within the external auditory canal. HP:0030710 Lipomeningocele biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030710 UMLS:C0431344|SNOMEDCT_US:253120005 A form of closed neural tube defect in which the spinal tissue lies within the spinal cord having a junction between the spinal cord and the lipoma. Intact skin covers the defect. Neurologic findings first appear during the second year of life. HP:0005787 Lumbar platyspondyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005787 UMLS:C4025136 A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the lumbar spine. HP:0003128 Lactic acidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003128 UMLS:C0001125|SNOMEDCT_US:190882007|UMLS:C0347959|SNOMEDCT_US:91273001|MSH:D000140 Lactic acidemia|Lacticacidemia|Hyperlacticacidemia|Increased lactate in body|Lacticacidosis An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids. HP:0004458 Dilatated internal auditory canal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004458 UMLS:C2676973 Bulbous internal auditory canal|Enlarged internal auditory canal The presence of a dilated inner part of external acoustic meatus. HP:0003127 Hypocalciuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003127 UMLS:C0020599|SNOMEDCT_US:86353007 Low urine calcium levels An abnormally decreased calcium concentration in the urine. HP:0005788 Abnormal cervical myelogram biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005788 UMLS:C4025135 HP:0030711 Hydrocolpos biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030711 UMLS:C1399870|MSH:D052202 Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction. HP:0005781 Contractures of the large joints biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005781 UMLS:C1859698 HP:0004453 Overfolding of the superior helices biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004453 UMLS:C1865304 Overfolding of superior helix A condition in which the superior portion of the helix is folded over to a greater degree than normal. HP:0030716 Acrania biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030716 UMLS:C0702169|MSH:D009436|SNOMEDCT_US:203923004 Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly. HP:0004452 Abnormality of the middle ear ossicles biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0004452 UMLS:C1836678 Malformed ossicles|Ossicular malformation An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea). HP:0003121 Limb joint contracture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003121 UMLS:C1969879 Limb contractures A contrqacture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs. HP:0030717 Meconium peritonitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030717 UMLS:C0270250|SNOMEDCT_US:57341009 Peritonitis caused by intrauterine intestinal rupture and spillage of fetal meconium into the fetal peritoneal cavity. Intra-peritoneal meconium usually calcifies, sometimes within 24 hours. Ultrasound findings may include intraabdominal calcifications. HP:0004451 Postauricular skin tag biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004451 UMLS:C4025323 Skin tag behind the ear|Postauricular acrochordon|Postauricular fibroepithelial polyp A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear). HP:0030718 Right atrial enlargement biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030718 Fyler:1771|UMLS:C0748427|SNOMEDCT_US:67751000119106|Fyler:2859 Right atrial dilatation|Enlarged heart right atrium|Dilated right atrium Increase in size of the right atrium. HP:0004450 Preauricular skin furrow biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004450 UMLS:C1852411 Preauricular skin groove|Preauricular skin sulcus|Skin groove in front of the ear|Skin sulcus in front of the ear|Preauricular skin furrows A groove of the skin immediately in front of the ear. HP:0005780 Absent fourth finger distal interphalangeal crease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005780 UMLS:C4021621 No fourth finger distal interphalangeal crease Absence of the distal interphalangeal flexion creases of the fourth finger. HP:0030719 Unguarded tricuspid valve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030719 UMLS:C0344745|SNOMEDCT_US:253381001 Rudimentary tricuspid valve leaflets|Unguarded tricuspid valve orifice A form of agenesis of the tricuspid valve in which (although the normal orifice between the right atrium and right ventricle exists) there is no tricuspid valvular tissue. HP:0004468 Anomalous tracheal cartilage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004468 UMLS:C1863406 Abnormal tracheal cartilaginous ring An abnormality of the C-shaped rings of hyaline cartilage, normally 16 to 20 in number, that occupy the anterior two-thirds of the circumference of the trachea (the posterior portion of the ring is completed by fibrous and smooth muscle tissue). HP:0003137 Prolinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003137 UMLS:C0268534|SNOMEDCT_US:53124003 An increased concentration of proline in the urine. HP:0030723 Congenital megalourethra biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030723 UMLS:C4280800 Dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa. HP:0004467 Preauricular pit biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004467 UMLS:C0546969|SNOMEDCT_US:1955003|MSH:C563015|SNOMEDCT_US:204271000|UMLS:C0266610|UMLS:C0266625|SNOMEDCT_US:204272007 Ear pit|Pit in front of the ear|Preauricular fistulas|Preauricular pits|Preauricular sinus|Preauricular earpits Small indentation anterior to the insertion of the ear. HP:0030724 Central nervous system cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030724 UMLS:C0349606|MSH:D020863|SNOMEDCT_US:277333006 CNS cyst|Cyst of the central nervous system A fluid-filled sac (cyst) located within the central nervous system. HP:0030725 Neurenteric cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030725 UMLS:C0027806|SNOMEDCT_US:253127008|SNOMEDCT_US:41353005|MSH:D009436 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. HP:0004466 Prolonged brainstem auditory evoked potentials biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004466 UMLS:C4025322 HP:0030726 Spinal neurenteric cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030726 UMLS:C4280799 A neurenteric cyst located in the spine. HP:0003134 Abnormality of peripheral nerve conduction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003134 UMLS:C4020690 Abnormal peripheral nerve transmission|Sensory and motor nerve conduction abnormalities An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS). HP:0030720 Subchorionic septal cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030720 UMLS:C4280801 Cyst on the surface of the placenta consisting of amnion and chorion. HP:0003139 Panhypogammaglobulinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003139 UMLS:C1328587 Panypogammaglobulinemia A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes. HP:0030721 Tetraphocomelia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030721 UMLS:C1849370 Phocomelia involving all four extremities. HP:0005798 Posterior radial head dislocation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005798 MSH:C566728|UMLS:C1867398 A dislocation of the head of the radius from its socket in the elbow joint in an posterior direction. HP:0003138 Increased blood urea nitrogen biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003138 UMLS:C0151539 Increased blood urea nitrogen|Increased BUN An increased amount of nitrogen in the form of urea in the blood. HP:0030722 Ectopic liver biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030722 SNOMEDCT_US:253813000|UMLS:C0431603 Ectopic liver is a rare developmental anomaly in which liver tissue is situated outside the liver. Thus, ectopic liver refers to autonomous islands of normal liver parenchyma located outside the liver. The term ectopic liver is also used, to include liver appendices attached to the native liver by a thin stalk although being fully separated from the latter. HP:0004469 Chronic bronchitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004469 UMLS:C0008677|MSH:D029481|SNOMEDCT_US:63480004 Chronic inflammation of the bronchi. HP:0005792 Short humerus biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0005792 UMLS:C1832117 Hypoplastic humerus|Short upper arms|Humeral hypoplasia|Short humerus|Humeral shortening|Short humeri|Short long bone of upper arm Underdevelopment of the humerus. HP:0005793 Shortening of all distal phalanges of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005793 UMLS:C4025132 Shortening of all outermost bone of the toes Abnormally short distal phalanx of toe of all toes. HP:0005794 obsolete Arterial disease of legs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005794 HP:0004464 Postauricular pit biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0004464 UMLS:C0395905|SNOMEDCT_US:43887004 Posterior auricular sinus|Postauricular earpits|Postauricular fistula|Pit behind the ear|Posterior auricular pit Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit. HP:0003133 Abnormality of the spinocerebellar tracts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003133 UMLS:C4025647 An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract. HP:0030727 Intracranial neurenteric cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030727 UMLS:C4280680 A neurenteric cyst located within the skull. HP:0004463 Absent brainstem auditory responses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004463 UMLS:C1836742 No auditory brainstem response Lack of measurable response to stimulation of auditory evoked potentials. HP:0030728 Meromelia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030728 UMLS:C0265549|SNOMEDCT_US:60220000 Partial absence of a free limb (excluding girdle). It can refer to the proximal, middle or distal segment of the upper or lower limb. The deficiency may be transverse or longitudinal. Thus, meromelia is a lack of a part, but not all, of one or more limbs with the presence of a hand or foot. HP:0005790 Short mandibular condyles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005790 UMLS:C4280475|UMLS:C4025134|UMLS:C4280474 Decreased height of condylar process of mandible|Short condylar head of mandible|Bilateral hypoplasia of condylar process of mandible|Short condylar neck of mandible|Decreased length of condylar process of mandible|Bilateral hypoplasia of mandibular condylar head|Short condylar process of mandible|Bilateral hypoplasia of mandibular condylar neck HP:0003131 Cystinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003131 UMLS:C0010691|MSH:D003555|SNOMEDCT_US:85020001 High urine cystine levels An increased concentration of cystine in the urine. HP:0030729 Frontoethmoidal meningocele biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030729 UMLS:C4280798 Frontoethmoid meningocele A herniation of meninges through a congenital bone defect in the skull at the junction of the frontal and ethmoidal bones. HP:0005791 Cortical thickening of long bone diaphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005791 UMLS:C4025133 Abnormal thickening of the cortex of the diaphyseal region of long bones. HP:0003130 Abnormal peripheral myelination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003130 UMLS:C4025648 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. HP:0004461 Congenital earlobe sinuses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004461 UMLS:C1969394 Pits in the earlobes at the location where ears are typically pierced for earrings. HP:0005723 Shoe-shaped sella turcica biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005723 UMLS:C4025147 HP:0005725 Nonopposable triphalangeal thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005725 MSH:C536562|UMLS:C2931238 A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand. HP:0005726 Thumbs hypoplastic with bulbous tips biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005726 UMLS:C4025146 Short thumbs with bulbous tips HP:0005720 Shortening of all metacarpals biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005720 UMLS:C4025149 Abnormal reduction in length of all metacarpal bones. HP:0005722 Hyperextensible thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005722 UMLS:C4025148 Double jointed thumb The ability of the thumb joints to move beyond their normal range of motion. HP:0004409 Hyposmia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0004409 SNOMEDCT_US:83156004|UMLS:C2364082 Decreased smell sensation|Sense of smell impaired A decreased sensitivity to odorants (that is, a decreased ability to perceive odors). HP:0004408 Abnormality of the sense of smell biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0004408 UMLS:C4021655 Abnormal sense of smell|Abnormality of olfaction|Smell defect|Abnormality of the sense of smell An anomaly in the ability to perceive and distinguish scents (odors). HP:0004407 Bony paranasal bossing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004407 UMLS:C1857499 HP:0005739 Posterior subluxation of radial head biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005739 UMLS:C3149878 Partial dislocation of the head of the radius in the posterior direction. HP:0004401 Meconium ileus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004401 UMLS:C0398349|UMLS:C2939175|UMLS:C3553397|SNOMEDCT_US:206523001|SNOMEDCT_US:86092005|SNOMEDCT_US:233662009 Meconium ileus on ultrasonography|Distal intestinal obstruction syndrome|Meconium ileus in neonates Obstruction of the intestine due to abnormally thick meconium. HP:0005736 Short tibia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005736 UMLS:C1855277|UMLS:C1850259 Shortening of the shankbone|Shortening of the tibia|Short tibiae|Short shinbone|Shortening of the shinbone|Short skankbone|Hypoplasia of the tibia|Hypoplastic tibia Underdevelopment (reduced size) of the tibia. HP:0004400 Abnormality of the pylorus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004400 UMLS:C4025326 An abnormality of the pylorus. HP:0004406 Spontaneous, recurrent epistaxis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004406 UMLS:C3809715 Spontaneous, recurrent nosebleed|Recurring nosebleed|Recurrent epistaxis|Recurrent epistaxes HP:0004405 Prominent nipples biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0004405 UMLS:C1855513 Prominent nipples HP:0005731 Cortical irregularity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005731 UMLS:C4025145 An abnormal irregularity of cortical bone. HP:0004404 Abnormal nipple morphology biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0004404 SNOMEDCT_US:700153004|UMLS:C3839073 Abnormality of the nipple An abnormality of the nipple. HP:0005733 Spinal stenosis with reduced interpedicular distance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005733 UMLS:C4021625 Spinal stenosis due to short pedicles An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging). HP:0004403 Proximal esophageal atresia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004403 UMLS:C4025325 HP:0005709 2-3 toe cutaneous syndactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005709 UMLS:C0432040|SNOMEDCT_US:205145001 Webbed skin of 2nd-3rd toes|Complete cutaneous syndactyly of second and third toes|Cutaneous 2,3 toe syndactyly|Cutaneous syndactyly of second and third toes HP:0005707 Bilateral triphalangeal thumbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005707 UMLS:C4021627 Bilateral digitalized thumb A bilateral form of triphalangeal thumb. HP:0005701 Multiple enchondromatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005701 UMLS:C0014084|MSH:D004687|SNOMEDCT_US:268274005 HP:0005700 Increased bone density with cystic changes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005700 UMLS:C4025151 HP:0005716 Lethal skeletal dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005716 UMLS:C4021626 Lethal dwarfism identifiable at birth HP:0005715 Flattened knee epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005715 UMLS:C4025150 Flattened end part of knee bone HP:0003704 Scapuloperoneal weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003704 UMLS:C1842161 Neurogenic scapuloperoneal syndrome HP:0003707 Calf muscle pseudohypertrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003707 UMLS:C1839666 Pseudohypertrophy of the calves Enlargement of the muscles of the calf due to their replacement by connective tissue or fat. HP:0003701 Proximal muscle weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003701 SNOMEDCT_US:249939004|UMLS:C0221629|UMLS:C1838869 Proximal limb weakness|Weakness in muscles of upper arms and upper legs|Proximal limb muscle weakness|Proximal neurogenic muscle weakness|Muscle weakness, proximal A lack of strength of the proximal muscles. HP:0003700 Generalized amyotrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003700 UMLS:C1389113 Diffuse skeletal muscle wasting|Muscular atrophy, generalized|Diffuse muscle wasting|Generalised amyotrophy|Generalized muscle degeneration|Generalized muscle atrophy|Muscle atrophy, generalized|Diffuse muscle atrophy|Muscle atrophy, diffuse|Diffuse amyotrophy Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles. HP:0003717 Minimal subcutaneous fat biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003717 UMLS:C1859442 Minimal fat below the skin HP:0003716 Generalized muscular appearance from birth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003716 UMLS:C1837799 Generalised muscular appearance from birth HP:0003715 Myofibrillar myopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003715 MSH:C580316|UMLS:C2678065|SNOMEDCT_US:699269005 Myofibrillar changes Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins. HP:0003719 Muscle mounding biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003719 UMLS:C1853702 HP:0003713 Muscle fiber necrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003713 UMLS:C1850848 Muscle fibre necrosis Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers. HP:0003712 Skeletal muscle hypertrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003712 UMLS:C2265792 Increased skeletal muscle cells|Muscle hypertrophy|Hypertrophic muscles|Muscular hypertrophy Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells). HP:0003710 Exercise-induced muscle cramps biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003710 UMLS:C1855578 Muscle cramps with exertion|Exercise-induced muscle cramping|Muscle cramps on exercise|Muscle cramps following exercise|Muscle cramps on exertion|Exercise-induced muscle cramps Sudden and involuntary contractions of one or more muscles brought on by physical exertion. HP:0100886 Abnormality of globe location biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100886 UMLS:C4021946 Abnormality of globe position|Abnormality of eyeball position|Abnormality of eyeball location An abnormality in the placement of the ocular globe (eyeball). HP:0100887 Abnormality of globe size biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100887 UMLS:C4021945 Abnormality of eyeball size|Eye size difference An abnormality in the size of the ocular globe (eyeball). HP:0100884 Compensatory scoliosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100884 UMLS:C0343292|SNOMEDCT_US:203645000 A scoliosis which is the results of a difference in leg length (which might be due to hemihypertrophy or hemihypotrophy of a leg) and the resulting tilting of the pelvis. If untreated this will lead to the development of scoliosis over time. HP:0100885 Lateral venous anomaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100885 UMLS:C4020945 Lateral marginal vein of Servelle|Vein of servelle Persistence of the embryonic dorsal or sciatic vein system that normally should have involuted around the tenth to twelfth week of intrauterine life. HP:0100882 Fibrous hamartoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100882 SNOMEDCT_US:22257004|SNOMEDCT_US:56364004|UMLS:C0265979 Fibrous hamartoma of infancy A rare, benign soft tissue tumor that typically occurs within the first two years of life. HP:0100883 Chorangioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100883 SNOMEDCT_US:237268002|MSH:D006391|SNOMEDCT_US:699948001|UMLS:C0677608|SNOMEDCT_US:2099007 Placental hamartoma Hamartoma-like growth in the placenta consisting of blood vessels. HP:0100880 Nephrogenic rest biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100880 SNOMEDCT_US:405933007|UMLS:C1320468 Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney. HP:0100881 Congenital mesoblastic nephroma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100881 MSH:D018201|UMLS:C1332965 Congenital mesoblastic nephroma is a type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life. It contains fibroblastic cells (connective tissue cells), and may spread to the other kidney or to nearby tissue. HP:0025093 Peripapillary exudate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025093 Peripapillary exudation A retinal exudate in the area surrounding the optic nerve head. HP:0025094 Disciform macular scar biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025094 A subretinal scar with a disc-like shape in the region of the macula. HP:0025095 Sneeze biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025095 A sudden violent, spasmodic, audible expiration of breath through the nose and mouth. HP:0025096 Paroxysmal sneezing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025096 Unprovoked explosive pathological sneezing. HP:0025097 Eyelid myoclonus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025097 Blepharoclonus|Eyelid myoclonia Marked, involuntary jerking of the eyelids. HP:0025098 Dysgenesis of the hypothalamus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025098 Hypothalamic dysgenesis Structural abnormality of the hypothalamus related to defective development. HP:0100888 Interdigital loops biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100888 UMLS:C4021944 HP:0025099 Dysgenesis of the thalamus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025099 Thalamic dysgenesis Structural abnormality of the thalamus related to defective development. HP:0100889 Abnormality of the ductus choledochus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100889 UMLS:C4020944 Abnormality of the common bile duct An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder. HP:0100898 Connective tissue nevi biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100898 UMLS:C0334083|SNOMEDCT_US:22858003|MSH:C562737|SNOMEDCT_US:400091006 Connective tissue nevi are hamartomas in which one or several components of the dermis is altered. HP:0100896 Rectal polyposis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100896 UMLS:C0034887|SNOMEDCT_US:39772007 Rectal polyps|Multiple rectal polyps The presence of multiple rectal hyperplastic/adenomatous polyps. HP:0100893 Prominent xiphoid process biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100893 UMLS:C4020942 Prominent xiphisternum Increased prominence of the xiphoid process of the sternum. HP:0100894 Broad xiphoid process biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100894 UMLS:C4020901 Broad xiphisternum Increased side-to-side width of the xiphoid process of the sternum. HP:0025090 Abnormal large intestinal mucosa morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025090 A structural anomaly of the mucous lining of the large intestine. HP:0100891 Bifid xiphoid process biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100891 UMLS:C4020943 Bifid xiphisternum A cleft of the xiphoid process of the sternum. HP:0025092 Epidermal acanthosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025092 Thickening of upper layer of skin|Acanthotic epidermis|Acanthosis Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin). HP:0100892 Abnormality of the xiphoid process biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100892 UMLS:C4021943 An abnormality of the xiphoid process of the sternum. HP:0100890 Cyst of the ductus choledochus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100890 UMLS:C0008340|SNOMEDCT_US:440471007|SNOMEDCT_US:398197009|MSH:D015529|SNOMEDCT_US:397868007 Choledochal cyst HP:0025082 Abnormal cutaneous elastic fiber morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025082 Abnormal cutaneous elastic fibre morphology Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils. HP:0025083 Elevated dermal desmosine content biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025083 An increased amount of desmosine measure in the skin. Desmosine is a cross-linking amino acid formed from lysyl residues in elastin. HP:0025084 Folliculitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025084 Follicular pustule Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule. HP:0025085 Bloody diarrhea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025085 Bloody diarrhea|Bloody stool|Blood in stool|Bloody bowel movement|Bloody diarrhoea Passage of many stools containing blood. HP:0025086 Bloody mucoid diarrhea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025086 Bloody mucoid diarrhoea Passage of many stools containing blood and mucus. HP:0025087 Delayed recoil upon stretching of skin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025087 Area of skin requiring an increased amount of time to return to its original shape after being stretched. HP:0100899 Sclerosis of finger phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100899 UMLS:C4020941 Sclerosis of the phalanges of the hand|Increased bone density in the finger bone An elevation in bone density in one or more phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity. HP:0025088 Onychomadesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025088 Complete shedding (separation) of the nail from the proximal matrix. Onychomadesis is the proximal separation of the nail plate from the nail matrix due to a temporary cessation of nail growth. HP:0025089 Feculent vomiting biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025089 Stercoraceous vomiting|Fecal vomiting|Vomiting fecal matter Vomiting of material that is of fecal origin. HP:0025080 Orthokeratotic hyperkeratosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025080 A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei. HP:0025081 Darier's sign biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025081 A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier's sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP. HP:0025079 Pancreatic abscess biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025079 Pancreas abscess A circumscribed area of pus or necrotic debris in the parenchyma of the pancreas. HP:0025071 U wave inversion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025071 Direction of the U wave opposite to the T wave (i.e., below baseline) in leads with upright T waves. HP:0025072 Prominent U wave biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025072 Increased U wave amplitude Increased amplitude of the U wave, defined as an amplitude grerater than 1-2mm or 25 percent of the height of the T wave. HP:0025073 Exercise-induced U wave inversion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025073 U wave inversion that is induced by exercise stress testing. HP:0025074 Abnormal QRS complex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025074 An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram. HP:0025075 Increased QRS voltage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025075 Elevation of the voltage (height) of the QRS complex. There are several criteria in use, but the most common is the Sokolov-Lyon criterion (S wave depth in V1 + tallest R wave height in V5-V6 greater than 35 mm). HP:0025076 Abnormal QRS voltage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025076 Abnormal amplitude of the QRS complex of the electrocardiogram (EKG). HP:0025077 Decreased QRS voltage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025077 Reduced amplitude (height) of the QRS complex of the electrocardiogram (EKG), defined as amplitudes of all the QRS complexes in the limb leads are less than 5 mm or amplitudes of all the QRS complexes in the precordial leads less than 10 mm. HP:0025078 Electrical alternans biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025078 The QRS complexes of the electrocardiogram alternate in height. HP:0025070 Abnormal U wave biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025070 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. HP:0025068 Incomitant strabismus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025068 Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort. HP:0025069 Concomitant strabismus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025069 Comitant strabismus Strabismus in which the angle of deviation of the squiting eye remains the same in relation to the other eye, in all directions of gaze, and whichever eye is fixing. HP:0025060 Multifocal splenic abscess biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025060 Multilocular splenic abscess Multiple abscess lesions in the spleen. HP:0025061 Unifocal splenic abscess biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025061 Solitary splenic abscess|Unilocular splenic abscess Single (solitary) abscess in the spleen. HP:0025062 Geophagia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025062 Geophagy The practice of eating earth or soil-like substrates such as clay or chalk. HP:0025063 Scaphoid abdomen biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025063 The anterior abdominal wall is sunken and presents a concave rather than a convex contour. OBO:hp#obsolete_synonym discarded/obsoleted synonym biolink:OntologyClass hp http://purl.obolibrary.org/obo/hp#obsolete_synonym HP:0025064 Thalamic hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025064 Thalamic haemorrhage Bleeding in the thalamus. HP:0025065 Abnormal mean corpuscular volume biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025065 Abnormal MCV|Abnormal erythrocyte volume A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters. HP:0025066 Decreased mean corpuscular volume biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025066 Reduced erythrocyte volume|Decreased MCV|Microcytosis A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters). HP:0100920 Sclerosis of 4th finger phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100920 UMLS:C4020935 Sclerosis of the phalanges of the 4th finger|Increased bone density in ring finger bone An elevation in bone density in one or more phalanges of the fourth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity. HP:0002377 obsolete Paraganglioma-related cranial nerve palsy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002377 HP:0001046 Intermittent jaundice biolink:PhenotypicFeature hp secondary_consequence http://purl.obolibrary.org/obo/HP_0001046 UMLS:C4025805 Intermittent yellow skin|Intermittent yellowing of skin|Intermittent icterus Jaundice that is sometimes present, sometimes not. HP:0025013 Decerebrate rigidity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025013 Decerebrate posturing A type of rigidity that is manifested by an exaggerated extensor posture of all extremities. HP:0002378 Hand tremor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002378 UMLS:C0239842 Tremor of hand|tremors in hands|Hand tremor|Tremor of hands An unintentional, oscillating to-and-fro muscle movement affecting the hand. HP:0001047 Atopic dermatitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001047 SNOMEDCT_US:24079001|SNOMEDCT_US:200775004|UMLS:C0011615|UMLS:C4280605|MSH:D003876 Atopic dermatitis, chronic|Dermatitis, Atopic|Baby eczema Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage. HP:0025014 Subcutaneous spheroids biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025014 Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray. HP:0002375 Hypokinesia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002375 UMLS:C0086439|MSH:D018476|SNOMEDCT_US:255385008|SNOMEDCT_US:43994002 Decreased spontaneous movement|Decreased spontaneous movements|Decreased muscle movement Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency. HP:0025015 Abnormal vascular morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025015 HP:0002376 Developmental regression biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002376 UMLS:C1855019|UMLS:C1850493|UMLS:C1859678|SNOMEDCT_US:609225004|UMLS:C1836830|UMLS:C1857121|UMLS:C1855996|UMLS:C1855009|UMLS:C1836550 Psychomotor regression, progressive|Psychomotor regression in infants|Neurodevelopmental regression|Mental deterioration in childhood|Psychomotor regression|Psychomotor regression beginning in infancy|Loss of developmental milestones Loss of developmental skills, as manifested by loss of developmental milestones. HP:0025016 Abnormal capillary morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025016 A structural anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues. HP:0001045 Vitiligo biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001045 SNOMEDCT_US:56727007|MSH:D014820|UMLS:C0042900 Blotchy loss of skin color HP:0025017 Capillary fragility biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025017 Reduced resistance to rupture of capillary blood vessels. Capillary fragility may manifest as a bleeding diathesis with spontaneous ecchymoses (bruises). HP:0025018 Abnormal capillary physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025018 A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues. HP:0100929 Sclerosis of 5th toe phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100929 UMLS:C4020927 Increased bone density in pinky toe bone|Increased bone density in pinkie toe bone|Sclerosis of the phalanges of the 5th toe|Increased bone density in little toe bone An elevation in bone density in one or more phalanges of the fifth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. HP:0025019 Arterial rupture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025019 Sudden breakage of an artery leading to leakage of blood from the circulation. HP:0001048 Cavernous hemangioma biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001048 MEDDRA:10055899|SNOMEDCT_US:33377007|MSH:D006392|SNOMEDCT_US:56975005|SNOMEDCT_US:416824008|UMLS:C0018920|NCIT:C3086 Collection of dilated blood vessels that forms mass|Cavernous haemangioma|Cavernous angioma The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma. HP:0001049 Absent dorsal skin creases over affected joints biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001049 UMLS:C1861400 HP:0100927 Sclerosis of 3rd toe phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100927 UMLS:C4020929 Sclerosis of the phalanges of the 3rd toe|Increased bone density in 3rd toe bone 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. HP:0100928 Sclerosis of 4th toe phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100928 UMLS:C4020928 Increased bone density in 4th toe bone|Sclerosis of the phalanges of the 4th toe 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. HP:0002370 Poor coordination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002370 UMLS:C0563243 Poor coordination HP:0100925 Sclerosis of foot bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100925 UMLS:C4020931 Sclerosis of bones of the feet|Increased bone density in foot bone An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity. HP:0100926 Sclerosis of 2nd toe phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100926 UMLS:C4020930 Sclerosis of the phalanges of the 2nd toe|Increased bone density in 2nd toe bone 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. HP:0100923 Clavicular sclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100923 UMLS:C3554669 Increased bone density in collarbone|Osteosclerosis of the clavicles|Osteosclerosis of the clavicle An increase in bone density within the clavicle. HP:0002373 Febrile seizure (within the age range of 3 months to 6 years) biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002373 MSH:D003294|SNOMEDCT_US:41497008|UMLS:C0009952 Seizures, febrile, in early childhood|Febrile convulsion|Fever induced seizures|Febrile seizures|Seizures, generalized, associated with fever A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years. HP:0001042 High axial triradius biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001042 UMLS:C4025806 HP:0100924 Sclerosis of toe phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100924 UMLS:C4020932 Increased bone density in the toe bone|Sclerosis of the phalanges of the toes 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. HP:0025010 Foveal atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025010 Partial or complete loss of foveal tissue that was once present. HP:0002374 Diminished movement biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002374 UMLS:C4025710 Diminished movement HP:0001043 Prominent scalp veins biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001043 UMLS:C1856542 Prominent scalp veins HP:0100921 Sclerosis of 5th finger phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100921 UMLS:C4020934 Increased bone density in pinky finger bone|Sclerosis of the phalanges of the 5th finger|Increased bone density in pinkie finger bone|Increased bone density in little finger bone 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. HP:0002371 Loss of speech biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002371 UMLS:C0542223 Loss of speech HP:0001040 Multiple pterygia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001040 UMLS:C1867448 HP:0025011 Pyriform aperture stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025011 Narrowing of the anterior nasal aperture (piriform or pyriform aperture), which is a pear-shaped opening in the skull that forms the bony inlet of the nose. HP:0001041 Facial erythema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001041 UMLS:C0239488|SNOMEDCT_US:20255002|MSH:D012393|UMLS:C0005874|SNOMEDCT_US:271811009|SNOMEDCT_US:398909004|UMLS:C4020880|MSH:D001821|UMLS:C0035854 Blushing|Rosacea|Blushed cheeks|Ruddy face|Red in the face|Red face Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin. HP:0100922 Sclerosis of thumb phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100922 UMLS:C4020933 Sclerosis of the phalanges of the thumb|Increased bone density in thumb bone HP:0002372 Normal interictal EEG biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002372 UMLS:C1843146 Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis. HP:0025012 Status cribrosum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025012 Diffusely widened perivascular spaces in the basal ganglia, affecting especially the corpus striatum. Status cribrosum is usually symmetrical, with the perivascular spaces showing CSF signal and without diffusion restriction. The word cribriform means sievelike, with multiple perforations. HP:0100930 Sclerosis of hallux phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100930 UMLS:C4020926 Increased bone density in big toe bone|Sclerosis of the phalanges of the hallux An elevation in bone density in one or more phalanges of the big toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. HP:0100931 Sclerosis of the proximal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100931 UMLS:C4021927 Increased bone density in the innermost bone of the 2nd toe An elevation in bone density in the proximal phalanx of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. HP:0001057 Aplasia cutis congenita biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001057 UMLS:C0265989|SNOMEDCT_US:254237003|SNOMEDCT_US:74223008|MEDDRA:10002963|UMLS:C0282160|MSH:D004476|SNOMEDCT_US:35484002 Absence of part of skin at birth|Congenital absence of skin|Congenital scars|Cutis aplasia A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs. HP:0002389 Cavum septum pellucidum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002389 UMLS:C1840380 Widened cavum septum pellucidum|Large cavum septi pellucidi|Persistent cavum septum pellucidum If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space. HP:0001058 Poor wound healing biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001058 UMLS:C1851789 Poor wound healing A reduced ability to heal cutaneous wounds. HP:0001055 Erysipelas biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001055 UMLS:C0014733|SNOMEDCT_US:51510002|UMLS:C0014714|SNOMEDCT_US:44653001|MEDDRA:10015145|MSH:D004886|MSH:D004881 St. Anthony's Fire Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system. HP:0025004 Hallux rigidus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025004 SNOMEDCT_US:6654000|UMLS:C0264134|MSH:D020859 Arthritis of the big toe Osteoarthritis of the metatarsophalangeal joint of the first toe. HP:0001056 Milia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001056 SNOMEDCT_US:254679001|SNOMEDCT_US:254683001|SNOMEDCT_US:37719003|UMLS:C0345996 Millium cyst|Milk spot Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin. HP:0025005 Thickening of glomerular capillary wall biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025005 Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself. HP:0025006 Abnormal glomerular capillary morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025006 Abnormalities of the glomerular capillary wall A structural anomaly of the capillary blood vessels in the renal glomerulus. HP:0025007 Ectopic fovea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025007 Ectopic macula An abnormal anatomic position of the fovea, the small, central pit composed of closely packed cones that is located in the macula of the retina. HP:0001059 Pterygium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001059 MSH:D011625|UMLS:C0033999|SNOMEDCT_US:77489003 Pterygia|Surfer's eye Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits. HP:0025008 Tracheal tug on inspiration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025008 Downward movement of the trachea during inspiration due to downward traction on the tracheobronchial tree. HP:0025009 Forward slanting upper incisors biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025009 Proclination of the upper incisors|Forward directed upper incisors|Protruding upper incisors The upper incisors deviate from the normal angle of being roughly parallel to the surface of the face and instead slant outwards. HP:0100938 Sclerosis of the middle phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100938 UMLS:C4021920 Increased bone density in the middle bone of the pinkie toe|Increased bone density in the middle bone of the little toe|Increased bone density in the middle bone of the pinky toe HP:0002380 Fasciculations biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002380 MSH:D005207|SNOMEDCT_US:82470000|UMLS:C0015644 Muscle fasciculation|Fasciculation|Muscle twitch Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units. HP:0100939 Sclerosis of the distal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100939 UMLS:C4021919 Increased bone density in the outermost bone of the 2nd toe HP:0001050 Plethora biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001050 SNOMEDCT_US:75246004|UMLS:C0232370 HP:0002381 Aphasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002381 MSH:D001037|UMLS:C0003537|SNOMEDCT_US:87486003 Losing words|Difficulty finding words|Loss of words An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write. HP:0100936 Sclerosis of the middle phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100936 UMLS:C4021922 Increased bone density in the middle bone 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. HP:0100937 Sclerosis of the middle phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100937 UMLS:C4021921 Increased bone density in the middle bone of the 4th toe HP:0002384 Focal impaired awareness seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002384 SNOMEDCT_US:4103001|UMLS:C0270834|UMLS:C0149958 Partial seizure with impairment of awareness|Localized seizure with impaired awareness|Partial dyscognitive seizure|Focal seizure with impairment of awareness|Focal dyscognitive seizure|Localized seizure with loss of awareness|Focal seizures with impairment of consciousness or awareness|Localized dyscognitive seizure|Localised seizure with loss of awareness|Complex partial seizure|Dyscognitive seizures|Localised dyscognitive seizure|Focal seizure with loss of awareness|Complex focal seizures|Localised seizure with impaired awareness|Complex partial seizures|Focal impaired awareness seizures|Partial seizure with loss of awareness Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure. HP:0001053 Hypopigmented skin patches biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001053 UMLS:C1836735 Patchy loss of skin color HP:0100934 Sclerosis of the proximal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100934 UMLS:C4021924 Increased bone density in the innermost bone of the pinkie toe|Increased bone density in the innermost bone of the little toe|Increased bone density in the innermost bone of the pinky toe HP:0002385 Paraparesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002385 MSH:D020335|SNOMEDCT_US:1845001|UMLS:C0221166 Partial paralysis of legs Weakness or partial paralysis in the lower limbs. HP:0001054 Numerous nevi biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001054 UMLS:C1849677 Multiple pigmented nevi|Numerous moles HP:0100935 Sclerosis of the middle phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100935 UMLS:C4021923 Increased bone density in the middle bone of the 2nd toe HP:0100932 Sclerosis of the proximal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100932 UMLS:C4021926 Increased bone density in the innermost bone 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. HP:0001051 Seborrheic dermatitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001051 UMLS:C0036508|SNOMEDCT_US:50563003|SNOMEDCT_US:86708008|UMLS:C3806554|MSH:D012628 Dysseborrheic dermatitis|Seborrheic eczema|Seborrhea Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk. HP:0001052 Nevus flammeus biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001052 MEDDRA:10067193|SNOMEDCT_US:254211001|SNOMEDCT_US:416377005|MSH:D019339|UMLS:C0235752 port-wine stain|Nevus simplex A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin. HP:0100933 Sclerosis of the proximal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100933 UMLS:C4021925 Increased bone density in the innermost bone of the 4th toe HP:0002383 Encephalitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002383 UMLS:C0014038|SNOMEDCT_US:45170000|MSH:D004660 Brain inflammation HP:0100941 Sclerosis of the distal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100941 UMLS:C4021917 Increased bone density in the outermost bone of the 4th toe HP:0100942 Sclerosis of the distal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100942 UMLS:C4021916 Increased bone density in the outermost bone of the little toe|Increased bone density in the outermost bone of the pinkie toe|Increased bone density in the outermost bone of the pinky toe HP:0100940 Sclerosis of the distal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100940 UMLS:C4021918 Increased bone density in the outermost bone of the 3rd toe An elevation in bone density in the distal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. HP:0003687 Centrally nucleated skeletal muscle fibers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003687 UMLS:C1842170 Centralized sarcomeric nuclei|Centrally nucleated skeletal muscle fibres|Centralized nuclei|Central nuclei An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells). HP:0002355 Difficulty walking biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002355 MSH:D051346|UMLS:C0311394|SNOMEDCT_US:228158008 Difficulty walking|Difficulty in walking|Walking disability Reduced ability to walk (ambulate). HP:0001024 Skin dimple over apex of long bone angulation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001024 UMLS:C1855815 HP:0001025 Urticaria biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001025 SNOMEDCT_US:64305001|MEDDRA:10046735|UMLS:C0042109|SNOMEDCT_US:247472004|MSH:D014581|SNOMEDCT_US:126485001 Hives Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure. HP:0002356 Writer's cramp biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002356 UMLS:C0154676|MSH:D020821|SNOMEDCT_US:52008007 Writer's cramp A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument. HP:0001022 Albinism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001022 UMLS:C0333913|SNOMEDCT_US:18064000|MSH:D000417|SNOMEDCT_US:15890002|UMLS:C0001916 Achromasia|Albinism An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina). HP:0002353 EEG abnormality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002353 SNOMEDCT_US:274521009|UMLS:C0151611 EEG abnormalities|Abnormal EEG|Abnormal electroencephalogram|Electroencephalogram abnormal|Electroencephalogram abnormalities Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp. HP:0002354 Memory impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002354 MSH:D008569|UMLS:C0233794|UMLS:C0542476|UMLS:C0751295|SNOMEDCT_US:386807006|SNOMEDCT_US:55533009 Forgetfulness|Memory impairment|Poor memory|Memory problems|Memory loss An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. HP:0001028 Hemangioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001028 UMLS:C0018916|NCIT:C3085|SNOMEDCT_US:253053003|SNOMEDCT_US:2099007|SNOMEDCT_US:400210000|MSH:D006391 Hemangiomata|Strawberry mark 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). HP:0002359 Frequent falls biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002359 UMLS:C0850703 Frequent falls HP:0001029 Poikiloderma biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001029 UMLS:C0392777|MEDDRA:10057041|SNOMEDCT_US:402685001|SNOMEDCT_US:70114006 Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias. HP:0002357 Dysphasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002357 UMLS:C0973461|SNOMEDCT_US:20301004|MSH:D001037 HP:0001026 Penetrating foot ulcers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001026 UMLS:C4025809 Penetrating foot ulcers HP:0003689 Multiple mitochondrial DNA deletions biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003689 UMLS:C3277376 Multiple mtDNA deletions The presence of multiple deletions of mitochondrial DNA (mtDNA). HP:0001027 Soft, doughy skin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001027 UMLS:C1849043 Soft, doughy skin A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough. HP:0003688 Cytochrome C oxidase-negative muscle fibers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003688 UMLS:C4021724 Decreased activity of cytochrome C oxidase in muscle tissue|Cytochrome C oxidase-negative muscle fibres|Cytochrome c oxidase deficiency in skeletal muscle|Decreased skeletal muscle cytochrome c oxidase activity An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue. HP:0100947 Sclerosis of middle toe phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100947 UMLS:C4020924 Sclerosis of the middle phalanges of the toes|Increased bone density in middle toe bone 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. HP:0100948 Sclerosis of distal toe phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100948 UMLS:C4020923 Sclerosis of the distal phalanges of the toes|Increased bone density in the outermost bone of the toes An elevation in bone density in one or more distal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity. HP:0100945 Sclerosis of the 1st metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100945 UMLS:C4021913 Increased bone density in the 1st long bone of foot HP:0003683 Large beaked nose biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003683 UMLS:C4025579 Large beaked nose HP:0002352 Leukoencephalopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002352 MSH:D056784|SNOMEDCT_US:22811006|UMLS:C0270612 This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells. HP:0100946 Sclerosis of proximal toe phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100946 UMLS:C4020925 Increased bone density in innermost toe bone|Sclerosis of the proximal phalanges of the toes An elevation in bone density in one or more proximal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity. HP:0003682 Variable progression rate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003682 UMLS:C1970284 HP:0100943 Sclerosis of the proximal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100943 UMLS:C4021915 Increased bone density in the innermost bone of the big toe HP:0003680 Nonprogressive biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003680 UMLS:C3839460|SNOMEDCT_US:702322003 Non-progressive|Does not worsen|Nonprogressive disorder|Nonprogressive course|Stationary HP:0100944 Sclerosis of the distal phalanx of the hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100944 UMLS:C4021914 Increased bone density in the outermost bone of the big toe HP:0002350 Cerebellar cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002350 UMLS:C1847762 Cerebellar cysts HP:0100952 Enlarged sylvian cistern biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100952 UMLS:C4020921 Enlarged lateral fissure|Enlarged lateral sulcus|Enlarged sylvian fissure An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure). HP:0100953 Enlarged interhemispheric fissure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100953 UMLS:C4020920 Enlarged longitudinal fissure|Enlarged longitudinal cerebral fissure|Enlarged great longitudinal fissure HP:0100950 Decreased 3-hydroxyacyl-CoA dehydrogenase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100950 SNOMEDCT_US:237999008|MSH:C566945|UMLS:C1969443 Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency|Long chain 3 hydroxyacyl coA dehydrogenase deficiency|Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency HP:0100951 Enlarged fossa interpeduncularis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100951 UMLS:C4020922 Enlarged interpeduncular cistern|Enlarged basal cistern HP:0002366 Abnormal lower motor neuron morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002366 UMLS:C1865412 Lower motor neuron disease|Lower motor neuron manifestations|Lower motor neuron signs Any structural anomaly of the lower motor neuron. HP:0003698 Difficulty standing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003698 UMLS:C0241237|SNOMEDCT_US:249902000 Difficulty in standing|Standing instability HP:0001036 Parakeratosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001036 MSH:D010241|SNOMEDCT_US:65068000|SNOMEDCT_US:200766001|UMLS:C0030436 Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes. HP:0002367 Visual hallucinations biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002367 SNOMEDCT_US:64269007|UMLS:C0233763|MSH:D006212 Visual hallucinations HP:0003697 Scapuloperoneal amyotrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003697 UMLS:C1842162 Scapuloperoneal atrophy Muscular atrophy in the distribution of shoulder girdle and peroneal muscles. HP:0001033 Facial flushing after alcohol intake biolink:PhenotypicFeature hp secondary_consequence http://purl.obolibrary.org/obo/HP_0001033 UMLS:C4025808 Facial flushing after alcohol intake HP:0003696 Absent epiphysis of the distal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003696 UMLS:C4025577 Absent end part of the outermost bone of the little finger|Absent end part of the outermost bone of the pinkie finger|Absent end part of the outermost bone of the pinky finger Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger. HP:0001034 Hypermelanotic macule biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001034 UMLS:C1842774 Hyperpigmented macules|Hyperpigmented spots|Hyperpigmented skin patches A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size. HP:0002365 Hypoplasia of the brainstem biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002365 UMLS:C1842688 Underdeveloped brainstem|Small brainstem|Hypoplastic brain stem|Hypoplastic brainstem|Brainstem hypoplasia Underdevelopment of the brainstem. HP:0001039 Atheroeruptive xanthoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001039 UMLS:C4025807 HP:0001038 Warfarin-induced skin necrosis biolink:PhenotypicFeature hp secondary_consequence http://purl.obolibrary.org/obo/HP_0001038 UMLS:C1867638 HP:0003690 Limb muscle weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003690 SNOMEDCT_US:713514005|UMLS:C0587246 Limb weakness|Limb muscle weakness Reduced strength and weakness of the muscles of the arms and legs. HP:0100958 Narrow foramen obturatorium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100958 UMLS:C4021910 Decreased width of the foramen obturatorium. The foramen obturatorium (also known as the obturator foramen) is a hole located between the ischium and pubis bones of the pelvis. HP:0100959 Dense metaphyseal bands biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100959 UMLS:C4020919 Transverse metaphyseal bands|Dense metaphyseal lines Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones. They appear on radiographs as bone that is more radiopaque that the adjacent diaphyseal cortex. HP:0002362 Shuffling gait biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002362 SNOMEDCT_US:43005009|MSH:D020233|UMLS:C0231688 Shuffled walk A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground. HP:0001031 Subcutaneous lipoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001031 UMLS:C1403035|NCIT:C3192 The presence of subcutaneous lipoma. HP:0003694 Late-onset proximal muscle weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003694 UMLS:C4025578 Lack of strength of the proximal musculature occurring late in the clinical course. HP:0100957 Abnormal renal medulla morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100957 UMLS:C4021911 Abnormality of the renal medulla Any structural abnormality of the medulla of the kidney. HP:0003693 Distal amyotrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003693 UMLS:C1848736 Distal muscle atrophy, upper and lower limbs|Distal amyotrophy, especially of the hands and feet|Distal muscle atrophy|Distal muscle wasting|Distal limb muscle atrophy|Distal muscle degeneration|Distal muscular atrophy|Amyotrophy of distal limb muscles|Muscle atrophy, distal Muscular atrophy affecting muscles in the distal portions of the extremities. HP:0001032 Absent distal interphalangeal creases biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001032 UMLS:C1861349 Distal finger flexion creases absent|Aplasia of the distal interphalangeal creases|Absence of skin creases over distal interphalangeal joints Absence of the distal interphalangeal flexion creases of the fingers. HP:0002363 Abnormality of brainstem morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002363 UMLS:C1850601 Abnormal shape of brainstem|Abnormality of the brainstem An anomaly of the brainstem. HP:0002360 Sleep disturbance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002360 UMLS:C0037317|SNOMEDCT_US:53888004 Trouble sleeping|Sleep disturbances|Difficulty sleeping|Sleep dysfunction 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. HP:0100954 Open operculum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100954 UMLS:C2675973 Underdevelopment of the operculum. HP:0001030 Fragile skin biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001030 SNOMEDCT_US:247427007|MEDDRA:10040851|UMLS:C0241181 Fragile skin|Skin fragility Skin that splits easily with minimal injury. HP:0003691 Scapular winging biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003691 SNOMEDCT_US:17211005|UMLS:C4072849|MEDDRA:10067628|UMLS:C0240953 Winged scapulae|Scapular weakness|Winged shoulder blade|Winged scapulas|Scapula alata Abnormal protrusion of the scapula away from the surface of the back. HP:0100955 Giant cell granuloma of mandible biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100955 UMLS:C4021912 HP:0002361 Psychomotor deterioration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002361 UMLS:C1836842 Psychomotor degeneration Loss of previously present mental and motor abilities. HP:0100963 Hyperesthesia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100963 SNOMEDCT_US:14151009|UMLS:C0020453|MSH:D006941 Hyperaesthesia HP:0100961 Enlarged hippocampus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100961 UMLS:C4021908 Increase in size of the hippocampus. HP:0100962 Shyness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100962 UMLS:C0037020|MSH:D012792 Shyness HP:0100960 Asymmetric ventricles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100960 UMLS:C4021909 HP:0001090 Abnormally large globe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001090 UMLS:C1855852|UMLS:C0423221|UMLS:C4280603|SNOMEDCT_US:246920008 Large eyeballs|Megalophthalmos|Large eyes|Increased size of eyes|Increased size of palpebral fissures|Large of palpebral fissures Diffusely large eye (with megalocornea) without glaucoma. HP:0025057 Abnormality of olfactory lobe morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025057 A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell. HP:0025058 Hypothalamic atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025058 Atrophy of the hypothalamus|Partial or complete wasting (loss) of hypothalamus tissue that was once present. HP:0001088 Brushfield spots biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001088 UMLS:C4280604|UMLS:C1303007|SNOMEDCT_US:400960002 Speckled iris|Iris brushfield spots The presence of whitish spots in a ring-like arrangement at the periphery of the iris. HP:0025059 Splenic abscess biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025059 A circumscribed area of pus or necrotic debris in the parenchyma of the spleen. HP:0001089 Iris atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001089 UMLS:C0423319|SNOMEDCT_US:95709007 Iris degeneration Loss of iris tissue (atrophy) HP:0001082 Cholecystitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001082 SNOMEDCT_US:76581006|MSH:D002764|UMLS:C0008325 Gallbladder inflammation The presence of inflammatory changes in the gallbladder. HP:0001083 Ectopia lentis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001083 SNOMEDCT_US:74969002|UMLS:C0013581|MSH:D007906|UMLS:C0023309|MSH:D004479 Lens dislocation|Abnormality of lens position Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation. HP:0025050 Elevated brain creatine level by MRS biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025050 Elevated brain creatine level by magnetic resonance spectroscopy An increase in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS). HP:0025051 Reduced brain creatine level by MRS biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025051 Low brain creatine phosphate|Reduced brain creatine level by magnetic resonance spectroscopy A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS). HP:0001080 Biliary tract abnormality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001080 MSH:D001660|UMLS:C0549613|UMLS:C0005424|SNOMEDCT_US:105997008 Biliary tract disease An abnormality of the biliary tree. HP:0001081 Cholelithiasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001081 MSH:D002769|SNOMEDCT_US:266474003|UMLS:C0008350 Gallstones Hard, pebble-like deposits that form within the gallbladder. HP:0025052 Abnormal brain N-acetyl aspartate level by MRS biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025052 Abnormal brain N-acetyl aspartate level by magnetic resonance spectroscopy A deviation from normal in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS). HP:0025053 Elevated brain N-acetyl aspartate level by MRS biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025053 Elevated brain N-acetyl aspartate level by magnetic resonance spectroscopy An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS). HP:0001087 Developmental glaucoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001087 UMLS:C0020302|SNOMEDCT_US:204113001|SNOMEDCT_US:413728006|MSH:D006871 Pediatric glaucoma|Infantile glaucoma|Childhood glaucoma Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma. HP:0001084 Corneal arcus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001084 UMLS:C0003742|SNOMEDCT_US:111522004|SNOMEDCT_US:231925004|MSH:D001112|UMLS:C0339268|SNOMEDCT_US:231924000 Corneal annulus|Anterior embryotoxon|Arcus senilis|Arcus lipoidis|Gerontoxon|Arcus juvenilis A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years. HP:0001085 Papilledema biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001085 SNOMEDCT_US:73221001|UMLS:C0030353|MSH:D010211|SNOMEDCT_US:248487006|SNOMEDCT_US:423341008 Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure. HP:0025046 Reduced brain lactate level by MRS biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025046 Reduced brain lactate level by magnetic resonance spectroscopy A decrease in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS). HP:0025047 Abnormal brain choline level by MRS biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025047 Abnormal brain choline level by magnetic resonance spectroscopy A deviation from normal in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS). HP:0025048 Reduced brain choline level by MRS biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025048 Reduced brain choline level by magnetic resonance spectroscopy An decrease in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS). HP:0001099 Fundus atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001099 UMLS:C2673929 HP:0025049 Abnormal brain creatine level by MRS biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025049 Abnormal brain creatine level by magnetic resonance spectroscopy HP:0001093 Optic nerve dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001093 UMLS:C2676026 The presence of developmental dysplasia of the optic nerve. HP:0001094 Iridocyclitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001094 UMLS:C0022073|SNOMEDCT_US:77971008|MSH:D015863 A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body. HP:0025040 Thalamic edema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025040 Oedema of the thalamus|Edema of the thalamus|Thalamic oedema Swelling within the thalamus due to the accumulation of fluid. HP:0001092 Absent lacrimal punctum biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001092 SNOMEDCT_US:204208005|UMLS:C0344509|UMLS:C1867060|SNOMEDCT_US:253217007|MSH:C566703 Aplasia of lacrimal puncta|Lacrimal punctum, absence|Lacrimal puncta aplasia|Absent lacrimal gland puncta|Agenesis of the lacrimal punctum|Absent lacrimal puncta|Absent lacrimal openings No identifiable superior and/or inferior lacrimal punctum. HP:0025041 Thalamic calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025041 Calcium deposition in the thalamus. HP:0001097 Keratoconjunctivitis sicca biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001097 UMLS:C0013238|UMLS:C0043349|MSH:D007638|MSH:D015352|UMLS:C2930821|MSH:D014985|SNOMEDCT_US:46152009|MSH:C531719|UMLS:C0022575|SNOMEDCT_US:363677007|SNOMEDCT_US:302896008 Keratitis sicca|Dry eyes|Dry eye syndrome|Xerophthalmia Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids. HP:0025042 Abnormality of mesenteric lymph nodes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025042 A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery. HP:0001098 Abnormal fundus morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001098 UMLS:C4025804 Abnormality of the fundus Any structural abnormality of the fundus of the eye. HP:0025043 Enlarged mesenteric lymph node biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025043 Increase in size of one or more mesenteric lymph nodes. HP:0025044 Lung abscess biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025044 A circumscribed area of pus or necrotic debris in lung parenchyma, which leads to a cavity, and after formation of bronchopulmonary fistula, can manifest as an air-fluid level inside the cavity. HP:0001095 Hypertensive retinopathy biolink:PhenotypicFeature hp secondary_consequence http://purl.obolibrary.org/obo/HP_0001095 UMLS:C0152132|SNOMEDCT_US:6962006|MSH:D058437 HP:0025045 Abnormal brain lactate level by MRS biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025045 Abnormal lactate level by magnetic resonance spectroscopy A deviation from normal of the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS). HP:0001096 Keratoconjunctivitis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001096 UMLS:C0022573|SNOMEDCT_US:88151007|MSH:D007637 Inflammation of the cornea and conjunctiva. HP:0025035 Abnormal proerythroblast morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025035 Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers. HP:0001069 Episodic hyperhidrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001069 UMLS:C1857171 Hyperhidrosis, episodic|Sporadic excessive sweating Intermittent episodes of abnormally increased perspiration. HP:0025037 Hypothalamic gliosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025037 Focal proliferation of glial cells in the hypothalamus. HP:0001067 Neurofibromas biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001067 NCIT:C3272|SNOMEDCT_US:81669005|UMLS:C0162678|MSH:D017253|SNOMEDCT_US:19133005 Neurofibromata|Neurofibromatosis|multiple neurofibromas The presence of multiple cutaneous neurofibromas. HP:0025038 Intratesticular abscess biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025038 Testicular abscess A collection of pus within a testicle. Ultrasonographic features include shaggy, irregular walls, intratesticular location, low-level internal echoes, and occasionally, hypervascular margins. HP:0002398 Degeneration of anterior horn cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002398 UMLS:C1843505 Degeneration of alpha-motor neurons in anterior horn cells of the spinal cord|Anterior horn cell loss|Spinal cord anterior horn cell degeneration|Degeneration of spinal cord anterior horn cells|Progressive loss of anterior horn cells|Loss of spinal cord anterior horn cells HP:0025039 Basal ganglia edema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025039 Edema of the basal ganglia|Oedema of the basal ganglia|Basal ganglia oedema Swelling within the basal ganglia due to the accumulation of fluid. HP:0001060 Axillary pterygium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001060 UMLS:C1844738 Axillary pterygia Presence of a cutaneous membrane (flap) in the armpit. HP:0001061 Acne biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001061 UMLS:C0702166|SNOMEDCT_US:11381005|MEDDRA:10000496 Breaking out|Acne A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts). HP:0002392 EEG with polyspike wave complexes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002392 UMLS:C4021757 EEG: spike and multispike waves, 3-4 hz The presence of complexes of repetitive spikes and waves in EEG. HP:0002390 Spinal arteriovenous malformation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002390 UMLS:C0348023|SNOMEDCT_US:261482004 HP:0025030 Enteric neuronal degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025030 Degenerative enteric neuropathy 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. HP:0002395 Lower limb hyperreflexia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002395 UMLS:C1836696 Leg hyperreflexia|Overactive lower leg reflex|Increased deep tendon reflexes in the lower limbs|Hyperreflexia in the lower limbs|Brisk lower extremity reflexes|Hyperreflexia in lower limbs HP:0025031 Abnormality of the digestive system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025031 HP:0002396 Cogwheel rigidity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002396 UMLS:C0151564|MSH:D009127|SNOMEDCT_US:55630000 A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched). HP:0001065 Striae distensae biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001065 SNOMEDCT_US:201067006|UMLS:C0152459|MEDDRA:10040925|SNOMEDCT_US:47212006|SNOMEDCT_US:201066002|MSH:D057896 Purplish striae|Striae atrophicae|Stretch marks|Striae cutis distensae|Striae Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders. HP:0025032 Abnormality of digestive system physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025032 A functional anomaly of the digestive system. HP:0001062 Atypical nevus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001062 MSH:D004416|UMLS:C0205748|SNOMEDCT_US:254818000|SNOMEDCT_US:61814002 Dysplastic Nevus|Atypical mole A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink. HP:0025033 Abnormality of digestive system morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025033 A structural anomaly of the digestive system. HP:0001063 Acrocyanosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001063 UMLS:C0221347|SNOMEDCT_US:25003006 Persistent blue color of hands, feet, or parts of face HP:0025034 Abnormal morphology of erythroid progenitor cell biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025034 Abnormal form of the progenitor cells committed to the erythroid lineage. HP:0025024 Megarectum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025024 An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or muscular abnormalities, which remains after disimpaction of the rectum. HP:0025025 Rectovestibular fistula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025025 Vestibular fistula A congenital malformation characterized by an abnormal connection (fistula) between the rectum and the vulval vestibule, at the lower aspect of the vaginal opening. HP:0025026 H-type rectovestibular fistula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025026 Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract. HP:0025027 Osteoma cutis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025027 Miliary osteoma|Osteomatosis|Cutaneous osteosis The term osteoma refers to the anomalous presence of ossification (bone formation) in the interior of the dermis or epidermis. The dermal or subcutaneous bone formation presents as stony hard nodules. The osteomata appear as irregular, hardened small nodules that are well circumscribed and generally of the same color as the skin. HP:0025028 Abnormality of enteric nervous system morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025028 A structural anomaly of nerves of the enteric nervous system. HP:0025029 Abnormality of enteric neuron morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025029 HP:0001071 Angiokeratoma corporis diffusum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001071 SNOMEDCT_US:124464003|UMLS:C0002986|SNOMEDCT_US:16652001|MSH:D000795 Fabry syndrome HP:0001072 Thickened skin biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001072 UMLS:C4020878|SNOMEDCT_US:69943009|UMLS:C0334008|SNOMEDCT_US:17417006|MEDDRA:10040936 Pachydermia|Thick skin|Thickened skin|Diffusely thickened skin Laminar thickening of skin. HP:0001070 Mottled pigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001070 UMLS:C4020879|UMLS:C0860439 Mottled skin coloring|Stippled pigmentation Patchy and irregular skin pigmentation. HP:0001075 Atrophic scars biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001075 UMLS:C0162154|SNOMEDCT_US:239172000|SNOMEDCT_US:409766009 Sunken or indented skin due to damage|Thin, atrophic scars Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin. HP:0025020 Elevated prostate-specific antigen level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025020 An increased concentration of prostate specific antigen (PSA) in the circulation. HP:0001076 Glabellar hemangioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001076 UMLS:C1854408 Glabellar capillary hemangioma HP:0025021 Abnormal erythrocyte sedimentation rate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025021 Abnormal Westergren sedimentation rate|Abnormal ESR A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling. HP:0025022 Decreased erythrocyte sedimentation rate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025022 Decreased ESR|Low ESR A reduced erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling. HP:0001073 Cigarette-paper scars biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001073 UMLS:C1851828 'cigarette paper scarring'|Cigarette paper scarring|Cigarette-paper scars Thin (atrophic) and wide scars. HP:0025023 Rectal atresia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025023 Atresia of the rectum A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum. HP:0001074 Atypical nevi in non-sun exposed areas biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001074 UMLS:C4021837 HP:0004959 Descending thoracic aorta aneurysm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004959 Fyler:2754|UMLS:C4025266 Dilatation of the descending thoracic aorta An abnormal localized widening (dilatation) of the descending thoracic aorta. HP:0003621 Juvenile onset biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003621 UMLS:C4025588 Signs and symptoms begin before 15 years of age Onset of signs or symptoms of disease between the age of 5 and 15 years. HP:0004952 Pulmonary arteriovenous fistulas biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004952 SNOMEDCT_US:111289009|UMLS:C0155675|MSH:C562404 A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed. HP:0004950 Peripheral arterial stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004950 UMLS:C0085096|MSH:D016491|MSH:D058729|SNOMEDCT_US:399957001|UMLS:C1704436|SNOMEDCT_US:400047006 Peripheral artery occlusive disease|Arterial disease of legs|Occlusive vascular disease|Peripheral vascular disease|Occlusive arterial disease|Peripheral artery disease Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication. HP:0004955 Generalized arterial tortuosity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004955 UMLS:C3279191|UMLS:C1836651 Generalised arterial tortuosity|Arterial tortuosity, generalized|Arterial tortuosity, general|Generalized twisted arteries Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries. HP:0003623 Neonatal onset biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003623 UMLS:C1855106 Onset in neonatal period|Onset in first weeks of life|Neonatal onset Onset of signs or symptoms of disease within the first 28 days of life. HP:0004954 obsolete Dilatation of the descending aorta biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004954 HP:0004953 obsolete Dilatation of abdominal aorta biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004953 HP:0002308 Arnold-Chiari malformation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002308 UMLS:C0003803|SNOMEDCT_US:253184003|MSH:D001139 Chiari malformation Arnold-Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow. HP:0003639 Elevated urinary epinephrine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003639 UMLS:C1868393 Increased urinary epinephrine An increased concentration of adrenaline in the urine. HP:0004969 Peripheral pulmonary artery stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004969 UMLS:C0345030|SNOMEDCT_US:253631001 Narrowing of peripheral lung artery|peripheral pulmonary stenosis|Peripheral pulmonic stenosis Stenosis of a peripheral branch of the pulmonary artery. HP:0002307 Drooling biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002307 SNOMEDCT_US:62718007|UMLS:C0037036|SNOMEDCT_US:275295002|UMLS:C0013132|SNOMEDCT_US:53827007|MSH:D012798 Dribbling|Drooling|Sialorrhea Habitual flow of saliva out of the mouth. HP:0004968 Recurrent cerebral hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004968 UMLS:C4025264 Recurrent hemorrhagic stroke|Recurrent cerebral haemorrhage Recurrent bleeding into the parenchyma of the brain. HP:0003637 Reduced 4-Hydroxyphenylpyruvate dioxygenase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003637 UMLS:C4025587 Reducted HPPD activity An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase level. HP:0004963 Calcification of the aorta biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004963 UMLS:C1096249 Calcification, that is, pathological deposition of calcium salts in the aorta. HP:0002300 Mutism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002300 UMLS:C0026884|MSH:D009155|SNOMEDCT_US:88052002 Inability to speak|Muteness HP:0002301 Hemiplegia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002301 UMLS:C0018991|SNOMEDCT_US:50582007|MSH:D006429 Paralysis on one side of body Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body. HP:0004962 Thoracic aorta calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004962 UMLS:C1969292 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. HP:0004961 Pulmonary artery sling biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004961 UMLS:C1856123 An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum. HP:0004960 Absent pulmonary artery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004960 UMLS:C0265905|SNOMEDCT_US:86252004 Absent lung artery|Missing pulmonary artery A congenital defect with aplasia (absence) of one of the right or left pulmonary artery. HP:0002304 Akinesia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002304 UMLS:C0085623|SNOMEDCT_US:33994004 Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily. HP:0002305 Athetosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002305 UMLS:C1845265|SNOMEDCT_US:44913001|UMLS:C0004158|MSH:D001264|SNOMEDCT_US:58593005 Athetoid movements|Involuntary writhing movements in fingers, hands, toes, and feet|Involuntary writhing movements A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest. HP:0004966 Medial calcification of large arteries biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004966 UMLS:C4025265 Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries. HP:0003635 Loss of subcutaneous adipose tissue in limbs biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003635 UMLS:C1837764 Loss of subcutaneous adipose tissue from extremities|Loss of fat tissue below the skin in limbs Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg. HP:0003634 Amyoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003634 UMLS:C0432185|SNOMEDCT_US:205532005 Absent muscles since birth|Congenital absence of muscles Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue. HP:0004964 Pulmonary arterial medial hypertrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004964 UMLS:C1504382 Hypertrophy of the pulmonary artery wall Increase in mass of the tunica media of the arteries in the pulmonary circulation. HP:0004938 Tortuous cerebral arteries biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004938 UMLS:C1836791 Twisted cerebral arteries Excessive bending, twisting, and winding of a cerebral artery. HP:0003607 4-hydroxyphenylacetic aciduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003607 UMLS:C1848680|MSH:C535315 Increased concentration of 4-hydroxyphenylacetic acid in the urine. HP:0004937 Pulmonary artery aneurysm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004937 SNOMEDCT_US:194892009|UMLS:C0155676 An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery. HP:0003606 Absent urinary urothione biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003606 UMLS:C4025591 Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine. HP:0004936 Venous thrombosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004936 SNOMEDCT_US:111293003|MSH:D020246|UMLS:C0042487 Blood clot in vein Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow. HP:0004935 Pulmonary artery atresia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004935 SNOMEDCT_US:204443008|SNOMEDCT_US:10930001|UMLS:C0265908 Pulmonary atresia A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery. HP:0003609 Foam cells with lamellar inclusion bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003609 UMLS:C4025590 The presence of foam cells that contain lamellar inclusion bodies. HP:0004930 Abnormality of the pulmonary vasculature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004930 UMLS:C4025271 Abnormality of the lung blood vessels HP:0004934 Vascular calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004934 UMLS:C0342649|MSH:D061205|SNOMEDCT_US:237897009 Abnormal calcification of the vasculature. HP:0004933 Ascending aortic dissection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004933 UMLS:C1836653 Type A aortic dissection A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space. HP:0004931 Arteriosclerosis of small cerebral arteries biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004931 UMLS:C4280505|UMLS:C4025270 Hardened artery wall in small cerebral arteries Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain. HP:0004948 Vascular tortuosity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004948 UMLS:C2673776 Twisted blood vessels Abnormal twisting of arteries or veins. HP:0004947 Arteriovenous fistula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004947 UMLS:C0003855|SNOMEDCT_US:439470001|MSH:D001164|SNOMEDCT_US:128617001 Arteriovenous fistulas An abnormal connection between an artery and vein. HP:0003616 Premature separation of centromeric heterochromatin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003616 UMLS:C1849316 HP:0003610 Fibroblast metachromasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003610 UMLS:C1835008 Increased cytoplasmic staining of fibroblasts with toluidine blue. HP:0004941 Extrahepatic portal hypertension biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004941 UMLS:C4025268 Increased pressure in the pre-hepatic portal vein. HP:0004940 Generalized arterial calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004940 UMLS:C4025269 Generalised arterial calcification Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body. HP:0004945 Extracranial internal carotid artery dissection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004945 UMLS:C4025267 A separation (dissection) of the layers of the extracranial portion of the internal carotid artery wall. HP:0003614 Trimethylaminuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003614 SNOMEDCT_US:237959005|UMLS:C0342739|MSH:C536561 High urine trimethylamine levels Increased concentration of trimethylamine in the urine. HP:0004944 Dilatation of the cerebral artery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004944 SNOMEDCT_US:128608001|UMLS:C0751003|UMLS:C1290398|MSH:D002532 Intracranial aneurysm|Brain aneurysm|Cerebral aneurysm|Cerebral artery aneurysm The presence of a localized dilatation or ballooning of a cerebral artery. HP:0003613 Antiphospholipid antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003613 UMLS:C4019436 Antiphospholipid antibodies|Phospholipid antibody positivity|Antiphospholipid antibody The presence of circulating autoantibodies to phospholipids. HP:0003612 Positive ferric chloride test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003612 UMLS:C4025589 Positive FeCl3 test If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood. HP:0004943 Accelerated atherosclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004943 UMLS:C4280504|UMLS:C1849618 Accelerated plaque build-up in arteries Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors. HP:0004942 Aortic aneurysm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004942 UMLS:C0003486|MSH:D001014|Fyler:2301|Fyler:2708|SNOMEDCT_US:67362008 Bulge in wall of large artery that carries blood away from heart|Aortic dilatation 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. HP:0001008 Accumulation of melanosomes in melanocytes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001008 UMLS:C1843389 HP:0002339 Abnormal caudate nucleus morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002339 UMLS:C4025711 Abnormality of the caudate nucleus Any structural abnormality of the caudate nucleus. HP:0001009 Telangiectasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001009 UMLS:C1138421|SNOMEDCT_US:112641009|SNOMEDCT_US:247479008|MSH:D013684|UMLS:C0039446 Telangiectases|Spider veins|Cutaneous telangiectasia Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips. HP:0003665 Amyotrophy of the musculature of the pelvis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003665 UMLS:C4025581 Muscular atrophy affecting the muscles of the pelvis. HP:0002333 Motor deterioration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002333 UMLS:C1866284 Progressive degeneration of movement Loss of previously present motor (i.e., movement) abilities. HP:0001002 obsolete Decreased subcutaneous fat biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001002 HP:0002334 Abnormality of the cerebellar vermis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002334 UMLS:C4025712 An anomaly of the vermis of cerebellum. HP:0001003 Multiple lentigines biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001003 UMLS:C1328931|UMLS:C0036651|SNOMEDCT_US:72100002 Liver spots Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots. HP:0001000 Abnormality of skin pigmentation biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001000 UMLS:C1260926 Abnormal pigmentation|Abnormality of skin pigmentation|Abnormal skin color|Pigmentation anomaly|Abnormality of pigmentation|Pigmentary skin changes|Abnormal skin pigmentation|Pigmentary changes An abnormality of the pigmentation of the skin. HP:0002331 Recurrent paroxysmal headache biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002331 UMLS:C1854337 Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality. HP:0002332 Lack of peer relationships biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002332 UMLS:C1845337 Lack of peer relationships HP:0004993 Slender long bones with narrow diaphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004993 UMLS:C2675547 Slender long bones with narrow shaft Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones. HP:0001001 Abnormality of subcutaneous fat tissue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001001 UMLS:C4025813 Abnormality of fatty tissue below the skin HP:0001006 obsolete Hypotrichosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001006 HP:0001007 Hirsutism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001007 MSH:D006628|UMLS:C0019572|SNOMEDCT_US:399939002 Excessive hairiness Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). HP:0001004 Lymphedema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001004 UMLS:C0240278|SNOMEDCT_US:30213001|UMLS:C1835229|SNOMEDCT_US:234097001|UMLS:C0024236|MSH:D008209 Onset of lymphedema around puberty|Lymphatic obstruction|Swelling caused by excess lymph fluid under skin|Lymphoedema Localized fluid retention and tissue swelling caused by a compromised lymphatic system. HP:0002335 Agenesis of cerebellar vermis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002335 UMLS:C0431399|SNOMEDCT_US:716997004|MSH:C536293|SNOMEDCT_US:253175003 Cerebellar vermis aplasia|Vermian agenesis Congenital absence of the vermis of cerebellum. HP:0001005 Dermatological manifestations of systemic disorders biolink:PhenotypicFeature hp secondary_consequence http://purl.obolibrary.org/obo/HP_0001005 UMLS:C4025812 HP:0004997 Multicentric ossification of proximal humeral epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004997 UMLS:C1857192 HP:0002330 Paroxysmal drowsiness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002330 UMLS:C4025713 Attacks of disabling daytime drowsiness and low alertness. HP:0004991 Rhizomelic arm shortening biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004991 UMLS:C1969532 Disproportionate shortening of the proximal segment of the arm (i.e. the humerus). HP:0004990 Epiphyseal streaking biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004990 UMLS:C1858039 HP:0001019 Erythroderma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001019 MSH:D003873|SNOMEDCT_US:396350005|SNOMEDCT_US:399992009|UMLS:C0011606|SNOMEDCT_US:400005007|SNOMEDCT_US:396349005|SNOMEDCT_US:200948000 Red scaly skin caused by inflammatory skin disease|Exfoliative dermititis|Generalized erythrodermia|Generalized erythroderma An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever. HP:0002344 Progressive neurologic deterioration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002344 UMLS:C1854838 Neurologic deterioration|Progressive mental deterioration|Neurologic deterioration, progressive|Progressive neurodegeneration|Worsening neurological symptoms HP:0001013 Eruptive xanthomas biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001013 SNOMEDCT_US:238952003|UMLS:C0221252 Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur. HP:0003676 Progressive biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003676 UMLS:C1864985|SNOMEDCT_US:252157006|UMLS:C0205329|SNOMEDCT_US:255314001 Worsens with time|Progressive disorder HP:0001014 Angiokeratoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001014 MSH:D000794|UMLS:C0002985|SNOMEDCT_US:26810009 Angiokeratomas A vascular lesion defined histologically as one or more dilated blood vessels lying directly subepidermal and showing an epidermal proliferative reaction. Clinically, angiokeratoma presents as a small, raised, dark-red spot. HP:0002345 Action tremor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002345 SNOMEDCT_US:30721006|UMLS:C0234376|MSH:D014202|UMLS:C4020853 Ataxic tremor A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement. HP:0002342 Intellectual disability, moderate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002342 UMLS:C0026351|SNOMEDCT_US:61152003 Mental retardation, moderate|Moderate mental deficiency|Moderate mental retardation|IQ between 34 and 49 Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49. HP:0003674 Onset biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003674 UMLS:C0206132|MSH:D017668 Age of onset|Age symptoms begin The age group in which disease manifestations appear. HP:0001011 obsolete Diaphoresis (with pheochromocytoma) biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001011 HP:0001012 Multiple lipomas biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001012 MSH:D008067|UMLS:C0023798|UMLS:C0745730|NCIT:C3192|SNOMEDCT_US:93163002|SNOMEDCT_US:404062002|SNOMEDCT_US:46720004 Multiple fatty lumps|Lipomas|Lipomatosis The presence of multiple lipomas (a type of benign tissue made of fatty tissue). HP:0002343 Normal pressure hydrocephalus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002343 MSH:D006850|SNOMEDCT_US:30753002|UMLS:C0020258 Normal-pressure hydrocephalus A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture. HP:0001017 Anemic pallor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001017 UMLS:C4025811 Anaemic pallor A type of pallor that is secondary to the presence of anemia. HP:0003679 Pace of progression biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003679 UMLS:C4025580 HP:0002349 Focal aware seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002349 UMLS:C0234974|MSH:D004828|SNOMEDCT_US:79348005|SNOMEDCT_US:117891000119100 Focal seizure without impairment of awareness|Focal seizure without impairment of consciousness or awareness|Partial seizure without impairment of awareness|Focal seizure with retained awareness|Partial seizure with retained awareness|Simple partial seizure|Simple partial seizures|Focal seizures without impairment of consciousness or awareness|Focal aware seizures A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile. HP:0001018 Abnormal palmar dermatoglyphics biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001018 UMLS:C4025810 An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand. HP:0002346 Head tremor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002346 UMLS:C0239882 Head tremor An unintentional, oscillating to-and-fro muscle movement affecting head movement. HP:0001015 Prominent superficial veins biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001015 UMLS:C1837785 Prominent veins A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal. HP:0003678 Rapidly progressive biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003678 UMLS:C1838681|UMLS:C1850776 Rapidly progressive disorder|Rapid progression|Worsening quickly HP:0003677 Slow progression biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003677 UMLS:C1854494 Slow disease progression|Slowly progressive disorder|Slowly progressive|Signs and symptoms worsen slowly with time HP:0002340 Caudate atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002340 UMLS:C1858116 Caudate degeneration HP:0002341 Cervical cord compression biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002341 UMLS:C0852866 Cervical cord compression myelopathy 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. HP:0001010 Hypopigmentation of the skin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001010 SNOMEDCT_US:18655006|SNOMEDCT_US:23006000|UMLS:C0162835|SNOMEDCT_US:201284005|MSH:D017496|SNOMEDCT_US:89031001 Skin hypopigmentation|Hypopigmented skin|Hypopigmentation|Patchy lightened skin A reduction of skin color related to a decrease in melanin production and deposition. HP:0003649 Abnormality of glycoside metabolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003649 UMLS:C4025584 Abnormality of glycoside metabolism. HP:0002317 Unsteady gait biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002317 SNOMEDCT_US:394616008|UMLS:C0231686|MSH:D020233|SNOMEDCT_US:22631008 Gait instability|Unsteady walk HP:0004979 Metaphyseal sclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004979 UMLS:C3552526 Increased bone density in wide portion of long bone|Sclerotic metaphyses Abnormally increased density of metaphyseal bone. HP:0003648 Lacticaciduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003648 UMLS:C4025585 High urine lactic acid levels|Increased urine lactate An increased concentration of lactic acid in the urine. HP:0002318 Cervical myelopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002318 SNOMEDCT_US:202664003|UMLS:C0149645 HP:0004974 Coarctation of abdominal aorta biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004974 UMLS:C4025263 Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta. HP:0002311 Incoordination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002311 SNOMEDCT_US:302289002|UMLS:C0520966|SNOMEDCT_US:281016006|MSH:D001259 Limb incoordination|Incoordination|Difficulties in coordination|Incoordination of limb movements HP:0003643 Sulfite oxidase deficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003643 SNOMEDCT_US:367368009|UMLS:C0268624|MSH:C538141 Abnormally reduced sulfite oxidase level. HP:0002312 Clumsiness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002312 UMLS:C0233844|SNOMEDCT_US:7006003 Clumsiness Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects. HP:0003642 Type I transferrin isoform profile biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003642 UMLS:C1837899 Isoelectric focusing of serum transferrin consistent with CDG type I|Abnormal isoelectric focusing of serum transferrin, type I pattern|Type 1 transferrin isoform profile Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. HP:0003641 Hemoglobinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003641 UMLS:C0019048|MSH:D006456|SNOMEDCT_US:68600005 Hemoglobin in urine The presence of free hemoglobin in the urine. HP:0004972 Elevated mean arterial pressure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004972 UMLS:C1840376 An abnormal increase in the average blood pressure in an individual during a single cardiac cycle. HP:0004971 Pulmonary artery hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004971 SNOMEDCT_US:54682008|Fyler:2966|UMLS:C0265910 Underdeveloped lung artery|Underdeveloped pulmonary artery Underdevelopment of the pulmonary artery. HP:0003640 Foam cells in visceral organs and CNS biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003640 UMLS:C1843373 HP:0002310 Orofacial dyskinesia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002310 MSH:D020820|SNOMEDCT_US:49386006|UMLS:C0152115 Orofacial dyskinesias HP:0002315 Headache biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002315 UMLS:C0018681|MSH:D006261|SNOMEDCT_US:25064002 Headache|Headaches Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. HP:0003647 Electron transfer flavoprotein-ubiquinone oxidoreductase defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003647 UMLS:C4025586 A deficiency of the electron transfer flavoprotein-ubiquinone oxidoreductase. HP:0100909 Sclerosis of the proximal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100909 UMLS:C4021933 Increased bone density in innermost bone of the middle finger HP:0004977 Bilateral radial aplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004977 UMLS:C1848840 Bilateral absence of radius Missing radius bone on both sides associated with congenital failure of development. HP:0003646 Bicarbonaturia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003646 UMLS:C1839865 Increased urine HCO3 concentration|Increased urine bicarbonate concentration Abnormally increased concentration of hydrogencarbonate in the urine. HP:0100907 Sclerosis of the middle phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100907 UMLS:C4021935 Increased bone density in the middle bone of the pinkie finger|Increased bone density in the middle bone of the little finger|Increased bone density in the middle bone of the pinky finger HP:0003645 Prolonged partial thromboplastin time biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003645 UMLS:C0240671|SNOMEDCT_US:409675001 Prolonged activated partial thromboplastin time|Abnormal partial thromboplastin time|Delayed thromboplastin generation|Partial thromboplastin time prolonged|Prolonged PTT Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms. HP:0004976 Knee dislocation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004976 MSH:D031221|SNOMEDCT_US:58320001|UMLS:C0159970 Dislocations of the knees|Knee dislocations HP:0002313 Spastic paraparesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002313 UMLS:C0037771|MSH:D020336|SNOMEDCT_US:312444006 HP:0002314 Degeneration of the lateral corticospinal tracts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002314 UMLS:C1846566 Degeneration of lateral corticospinal tracts Deterioration of the tissues of the lateral corticospinal tracts. HP:0004975 Erlenmeyer flask deformity of the femurs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004975 UMLS:C1855895 Erlenmeyer flask shaped thighbone|Erlenmeyer flask femora|Erlenmeyer flask deformity of distal femur Flaring of distal femur. HP:0100908 Sclerosis of the proximal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100908 UMLS:C4021934 Increased bone density in the innermost bone of the index finger HP:0100905 Sclerosis of the middle phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100905 UMLS:C4021937 Increased bone density in the middle bone of the middle finger HP:0100906 Sclerosis of the middle phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100906 UMLS:C4021936 Increased bone density in the middle bone of the ring finger HP:0100903 Sclerosis of the distal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100903 UMLS:C4021939 Increased bone density in the outermost pinky finger bone|Increased bone density in the outermost little finger bone|Increased bone density in the outermost pinkie finger bone HP:0100904 Sclerosis of the middle phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100904 UMLS:C4021938 Increased bone density in the middle bone of the index finger HP:0004970 Ascending tubular aorta aneurysm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004970 Fyler:2310|Fyler:2701|SNOMEDCT_US:253645007|UMLS:C0345049 Ascending aorta dilation|Dilatation of ascending aorta|Aneurysm of the ascending tubular aorta|Ascending aortic dilation|Ascending aortic aneurysm|Bulging of wall of large artery located above heart An abnormal localized widening (dilatation) of the tubular part of the ascending aorta. HP:0100901 Sclerosis of the distal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100901 UMLS:C4021941 Increased bone density in the outermost bone of the middle finger HP:0100902 Sclerosis of the distal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100902 UMLS:C4021940 Increased bone density in the outermost bone of the ring finger HP:0100900 Sclerosis of the distal phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100900 UMLS:C4021942 Increased bone density in the outermost bone of the index finger HP:0002329 Drowsiness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002329 UMLS:C0013144|SNOMEDCT_US:271782001|SNOMEDCT_US:79519003|MSH:D012894 Drowsiness|Sleepy Excessive daytime sleepiness. HP:0002322 Resting tremor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002322 MSH:D014202|SNOMEDCT_US:25082004|UMLS:C0234379 Resting tremor|Rest tremor|Parkinsonian tremor|Tremor at rest A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse. HP:0003654 Reduced dihydropyrimidine dehydrogenase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003654 UMLS:C4025582|UMLS:C1959620|MSH:D054067|SNOMEDCT_US:77365006 Dihydropyrimidine dehydrogenase deficiency An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) level. HP:0002323 Anencephaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002323 Fyler:4332|SNOMEDCT_US:89369001|UMLS:C0002902|MSH:D000757 Fetal anencephaly|Embryonic anencephaly Anencephaly is a developmental anomaly characterized by a fetus that has no calvarium, with a lack of most or all of the fetus' brain tissue. Anencephaly belongs to a collective group known as neural tube defects (NTD) and is a result of the neural tube failing to close in its rostral end during fetal development. HP:0003653 Cellular metachromasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003653 UMLS:C4025583 Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans. HP:0003652 Recurrent myoglobinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003652 UMLS:C1838877|MSH:C564018 Myoglobinuria, episodic|Myoglobinuria, recurrent Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue. HP:0003651 Foam cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003651 SNOMEDCT_US:16980002|MSH:D005487|UMLS:C0016390 Lipid-laden histiocytes|Foamy macrophages|Foamy histiocytes|Presence of foam cells The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance. HP:0002321 Vertigo biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002321 UMLS:C0042571|SNOMEDCT_US:399090003|SNOMEDCT_US:404640003|SNOMEDCT_US:271789005|SNOMEDCT_US:399153001|UMLS:C0012833|MSH:D014717|MSH:D004244 Dizzy spell|Dizziness An abnormal sensation of spinning while the body is actually stationary. HP:0002326 Transient ischemic attack biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002326 UMLS:C0917805|MSH:D002546 Mini stroke|Transient ischemic attacks|Transient ischaemic attack|TIA HP:0003658 Hypomethioninemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003658 UMLS:C1848555 Decreased serum methionine|Decreased plasma methionine A decreased concentration of methionine in the blood. HP:0003657 Granular osmiophilic deposits (GROD) in cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003657 UMLS:C1859833 HP:0002324 Hydranencephaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002324 MSH:D006832|SNOMEDCT_US:30023002|UMLS:C0020225 Hydrancephaly A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue. HP:0003656 Decreased beta-glucocerebrosidase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003656 UMLS:C1842710 Decreased lysosomal acid glucosylceramidase activity Reduced level of the enzyme beta-glucosidase, an enzyme that catalyzes the hydrolysis of glucosylceramide into ceramide and glucose. HP:0004987 Mesomelic leg shortening biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004987 UMLS:C1969178 Mesomelic lower limb shortening|Mesomelia of the lower limbs Shortening of the middle parts of the leg in relation to the upper and terminal segments. HP:0100918 Sclerosis of 2nd finger phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100918 UMLS:C4020937 Increased bone density in 2nd finger bone|Sclerosis of the phalanges of the 2nd finger 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. HP:0100919 Sclerosis of 3rd finger phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100919 UMLS:C4020936 Increased bone density in middle finger bone|Sclerosis of the phalanges of the 3rd finger An elevation in bone density in one or more phalanges of the third finger. Sclerosis is normally detected on a radiograph as an area of increased opacity. HP:0003655 Reduced level of N-acetylglucosaminyltransferase II biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003655 UMLS:C4021725 Deficient N-acetylglucosaminyltransferase II An abnormality of glycoprotein metabolism related to a decreased level of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity. HP:0004986 obsolete Rudimentary to absent fibulae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004986 HP:0100916 Sclerosis of middle finger phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100916 UMLS:C4020939 Increased bone density in middle finger bone of hand|Sclerosis of the middle phalanges of the hand 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. HP:0100917 Sclerosis of proximal finger phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100917 UMLS:C4020938 Sclerosis of the proximal phalanges of the hand|Increased bone density in innermost finger bone An elevation in bone density in one or more proximal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity. HP:0100914 Sclerosis of the 1st metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100914 UMLS:C4021928 Increased bone density in 1st long bone of hand HP:0100915 Sclerosis of distal finger phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100915 UMLS:C4020940 Increased bone density in outermost finger bone|Sclerosis of the distal phalanges of the hand An elevation in bone density in one or more distal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity. HP:0100912 Sclerosis of the distal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100912 UMLS:C4021930 Increased bone density in the outermost bone of the thumb An elevation of bone density in the distal phalanx of the thumb. HP:0004981 Prominent styloid process of ulna biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004981 UMLS:C4025262 HP:0004980 Metaphyseal rarefaction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004980 UMLS:C1832146 Rarefaction of the metaphyses Reduction in density of metaphyseal bony tissue. HP:0100913 Sclerosis of the proximal phalanx of the thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100913 UMLS:C4021929 Increased bone density in the innermost bone of the thumb An elevation of bone density in the proximal phalanx of the thumb. HP:0100910 Sclerosis of the proximal phalanx of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100910 UMLS:C4021932 Increased bone density in the innermost bone of the ring finger HP:0100911 Sclerosis of the proximal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100911 UMLS:C4021931 Increased bone density in innermost pinky finger bone|Increased bone density in innermost little finger bone|Increased bone density in innermost pinkie finger bone HP:0003826 Stillbirth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003826 SNOMEDCT_US:237364002|MSH:D005313|SNOMEDCT_US:276507005|MSH:D050497|UMLS:C0015927|UMLS:C0595939 Fetal death|Stillbirth|Stillborn Death of the fetus in utero after at least 20 weeks of gestation. HP:0003829 Incomplete penetrance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003829 UMLS:C1836598 Reduced penetrance A situation in which mutation carriers do not show clinically evident phenotypic abnormalities. HP:0003828 Variable expressivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003828 UMLS:C1866862|UMLS:C1861403 Highly variable severity|Variable severity A variable severity of phenotypic features. HP:0002506 Diffuse cerebral atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002506 UMLS:C0598275 Cerebral atrophy, diffuse Diffuse unlocalised atrophy affecting the cerebrum. HP:0002507 Semilobar holoprosencephaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002507 UMLS:C0751617|SNOMEDCT_US:253138008|MSH:D016142 A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly. HP:0003837 Soft-tissue ossification around the shoulders biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003837 UMLS:C4025561 Calcification of the soft-tissue around the shoulders Formation of calcified tissue in the soft tissues surrounding the shoulder. HP:0003836 Stippled calcification of the shoulder biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003836 UMLS:C4025562 HP:0002504 Calcification of the small brain vessels biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002504 UMLS:C4025703 Deposition of calcium salts within small blood vessels of the brain. HP:0003835 Shoulder subluxation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003835 UMLS:C0434744|SNOMEDCT_US:263051004 Partial shoulder dislocation A partial dislocation of the shoulder joint. HP:0002505 Progressive inability to walk biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002505 UMLS:C1836843 Progressive inability to walk HP:0002508 Brainstem dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002508 UMLS:C1855677 Malformation of brainstem structures|Brainstem hypoplasia/dysplasia A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord. HP:0003839 Abnormality of upper limb epiphysis morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003839 UMLS:C4021722 Abnormal shape of end part of upper limb long bones|Abnormality involving the epiphyses of the upper limbs|Epihyseal plate abnormality of the upper limbs HP:0002509 Limb hypertonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002509 UMLS:C1838391 Increased muscle tone of arm or leg HP:0003834 Shoulder dislocation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003834 MSH:D012783|SNOMEDCT_US:125615005|UMLS:C0037005|SNOMEDCT_US:417076003 Shoulder dislocation A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation. HP:0002503 Spinocerebellar tract degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002503 UMLS:C1866751 Spinocerebellar degeneration|Degeneration of the spinocerebellar tracts HP:0003833 Laterally deficient tibial plateaux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003833 UMLS:C4025563 HP:0002500 Abnormality of the cerebral white matter biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002500 UMLS:C4020851|MSH:D049292|UMLS:C0948163 Abnormality of subcortical white matter|Cortical white matter abnormalities seen on MRI|Cerebral white matter abnormalities|White matter abnormalities|White matter alterations|Leukoaraiosis An abnormality of the cerebral white matter. HP:0003832 Abnormality of the tibial plateaux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003832 UMLS:C4025564 HP:0003831 Age-dependent penetrance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003831 UMLS:C1835978 Age dependent penetrance A situation in which phenotypic abnormalities become evident with age. HP:0002501 Spasticity of pharyngeal muscles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002501 UMLS:C1853398 HP:0400008 Menometrorrhagia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0400008 SNOMEDCT_US:314631008|SNOMEDCT_US:351814001|UMLS:C0232943 Prolonged/excessive menses and bleeding at irregular intervals. HP:0400007 Polymenorrhea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0400007 UMLS:C0032519|SNOMEDCT_US:52754008|MSH:D008599 Frequent menses; menstrual cycles lasting less than 21 days. HP:0400004 Long ear biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0400004 UMLS:C1848657 Long ear|Long ears Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. HP:0400003 Focal absence of the external ear biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0400003 UMLS:C4021874 Absence of a localized portion of the ear that cannot be described by a more precise term (e.g., absent ear lobe). HP:0400005 Short ear biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0400005 UMLS:C3551041 Short ears|Short ear Median longitudinal ear length less than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. HP:0400000 Tall chin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0400000 UMLS:C4021875|SNOMEDCT_US:471397004|UMLS:C3532221 Vertical excess of chin|Tall chin|Increased height of chin|Increased height of menton region|Long chin|Long lower third of face|Vertical hyperplasia of chin Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin. HP:0003805 Rimmed vacuoles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003805 UMLS:C1853932 'rimmed' vacuoles on biopsy|'rimmed vacuoles' on biopsy Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions. HP:0003803 Type 1 muscle fiber predominance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003803 UMLS:C1854387 Type I muscle fiber predominance|Type 1 muscle fibre predominance An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy). HP:0400002 Extra concha fold biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0400002 UMLS:C4020915 Concha, Extra Fold Folds or ridges within the concha that are distinct from the crus helix. HP:0400001 Chin with vertical crease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0400001 UMLS:C4020916 Chin, vertical crease|Vertical chin skin cleft|Vertical menton crease|Cleft chin|Chin with vertical sulcus|Chin with vertical furrow|Chin with vertical crease|Chin with vertical groove Vertical crease fold situated below the vermilion border of the lower lip and above the fatty pad of the chin with the face at rest. HP:0003809 Reduced intrathoracic adipose tissue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003809 UMLS:C1837797 An abnormally reduced amount of adipose tissue in the thoracic cavity. HP:0003808 Abnormal muscle tone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003808 UMLS:C0852413 Abnormal muscle tone HP:0003800 Muscle abnormality related to mitochondrial dysfunction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003800 UMLS:C4025566 HP:0003819 Death in childhood biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003819 UMLS:C1843392 Death in childhood Death in during childhood, defined here as between the ages of 2 and 10 years. HP:0003812 Phenotypic variability biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003812 UMLS:C1839039|UMLS:C1837514|UMLS:C1850667|UMLS:C1866210 Highly variable phenotype, even within families|Highly variable clinical phenotype|Variable phenotypic severity|Highly variable phenotype|Highly variable phenotype and severity|Clinical heterogeneity|Variable phenotype A variability of phenotypic features. HP:0003811 Neonatal death biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003811 SNOMEDCT_US:276506001|UMLS:C0410916|MSH:D066087 Neonatal lethal Death within the first 28 days of life. HP:0003810 Late-onset distal muscle weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003810 UMLS:C4025565 HP:0100765 Abnormality of the tonsils biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100765 UMLS:C4021975 An abnormality of the tonsils. HP:0100766 Abnormal lymphatic vessel morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100766 UMLS:C4021974 Abnormality of the lymphatic vessels A structural anomaly of the vessel that contains or conveys lymph fluid. HP:0100763 Abnormality of the lymphatic system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100763 UMLS:C4021976|MSH:D008206|SNOMEDCT_US:111590001|SNOMEDCT_US:3305006|SNOMEDCT_US:234087005|SNOMEDCT_US:362971004|UMLS:C0024228 Lymphatic disease An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively. HP:0100764 Lymphangioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100764 SNOMEDCT_US:69044001|SNOMEDCT_US:253057002|NCIT:C8965|SNOMEDCT_US:254836000|SNOMEDCT_US:400178008|MSH:D008202|UMLS:C0024221 Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor. HP:0100761 Visceral angiomatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100761 UMLS:C4021977 HP:0100762 Hemobilia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100762 UMLS:C0018994|MSH:D006431|SNOMEDCT_US:66556007 Haemobilia Bleeding into the biliary tree. HP:0100760 Clubbing of toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100760 UMLS:C0009081|MSH:D003025|SNOMEDCT_US:249808002|SNOMEDCT_US:53148007|SNOMEDCT_US:397932003|UMLS:C3887489 Clubbed toes Terminal broadening of the toes (distal phalanges of the toes). HP:0100769 Synovitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100769 MSH:D013585|SNOMEDCT_US:416209007|UMLS:C0039103 HP:0100767 Abnormal placenta morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100767 UMLS:C1306893|SNOMEDCT_US:33552005|SNOMEDCT_US:169957005 Placental issue|Abnormality of the placenta 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. HP:0100768 Choriocarcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100768 SNOMEDCT_US:44769000|SNOMEDCT_US:188188009|MSH:D002822|UMLS:C0008497 A malignant, trophoblastic and aggressive cancer, usually of the placenta. It is characterized by early hematogenous spread to the lungs and belongs to the far end of the spectrum of gestational trophoblastic disease (GTD), a subset of germ cell tumors. HP:0100776 Recurrent pharyngitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100776 UMLS:C0747556 Recurrent sore throat|Pharyngitis, recurrent An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis. HP:0100777 Exostoses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100777 SNOMEDCT_US:416189003|MSH:D005096|SNOMEDCT_US:80400009|UMLS:C1442903 Formation of new noncancerous bone on top of existing bone 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. HP:0100774 Hyperostosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100774 MSH:D015576|SNOMEDCT_US:203514008|UMLS:C0020492|SNOMEDCT_US:13814009 Bone overgrowth|Bone Hypertrophy Excessive growth or abnormal thickening of bone tissue. HP:0100775 Dural ectasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100775 UMLS:C1851712 A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level. HP:0100773 Cartilage destruction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100773 UMLS:C4021973 Cartilage destruction HP:0100770 Hyperperistalsis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100770 UMLS:C0232474|UMLS:C0857071|SNOMEDCT_US:80306002|SNOMEDCT_US:271838002 Stomach churning Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine. HP:0100771 Hypoperistalsis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100771 SNOMEDCT_US:77853002|UMLS:C4020700|UMLS:C0232475 Intestinal hypoperistalsis Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract. HP:0100778 Cryoglobulinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100778 MSH:D003449|UMLS:C0010403|SNOMEDCT_US:30911005 Cryoprecipitable immune complexes Increased level of cryoglobulins in the blood. Cryoglobulins are abnormal immunoglobulins, especially IGG or IGM, that precipitate spontaneously when serum is cooled below 37 degrees Celsius. HP:0100779 Urogenital sinus anomaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100779 UMLS:C4021972 A rare birth defect in women where the urethra and vagina both open into a common channel. HP:0100787 Prostate neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100787 MSH:D011471|SNOMEDCT_US:126906006|UMLS:C0033578 HP:0100788 Fused lips biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0100788 UMLS:C4021970 Fused lips|Adhesion of upper and lower lips|Fusion of upper and lower lips Lack of separation of the upper and lower lips. HP:0100785 Insomnia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100785 SNOMEDCT_US:193462001|UMLS:C0917801|MSH:D007319 Difficulty staying or falling asleep|Fragmented sleep HP:0100786 Hypersomnia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100786 SNOMEDCT_US:77692006|UMLS:C0917799|MSH:D006970 Excessive sleepiness HP:0100783 Breast aplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100783 UMLS:C0266009|SNOMEDCT_US:111324004 Congenital absence of breast|Absent breast|Mammary gland aplasia Failure to develop and congenital absence of the breast. HP:0100784 Peripheral arteriovenous fistula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100784 UMLS:C4021971 HP:0100781 Abnormality of the sacroiliac joint biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100781 UMLS:C0262621 An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone). HP:0100780 Conjunctival hamartoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100780 UMLS:C4021849 A hamartoma (disordered proliferation of mature tissues) of the conjunctiva. HP:0025192 Subtentorial periventricular white matter hyperdensity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025192 Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the fourth cerebral ventricle (which is located beneath the tentorium of the cerebellum). HP:0025193 Posterolateral diaphragmatic hernia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025193 Bochdalek hernia A posterolateral defect in the diaphragm, commonly referred to as a Bochdalek hernia, which is often accompanied by herniation of the stomach, intestines, liver, and/or spleen into the chest cavity. HP:0025194 Morgagni diaphragmatic hernia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025194 Morgagni hernia An anterior retrosternal or parasternal hernia that can result in the herniation of liver or intestines into the chest cavity. HP:0025195 Central diaphragmatic hernia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025195 Central hernia A congenital diaphragm defect involving the central tendinous (e.g., amuscular) portion of the diaphragm, whereby the entire rim of diaphragmatic musculature is present. HP:0025196 Increased total iron binding capacity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025196 An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity. HP:0025197 Inclusion body fibromatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025197 Infantile digital fibromatosis|Digital fibrous tumor of Reye|Infantile digital fibroma A benign tumor made up of mostly myofibroblasts that appears almost exclusively on the digits of the hands and feet, rarely involving the thumb or big toe. The lesion displays a proliferation of bland intradermal spindle cells arranged in whorls, fascicles, or a storiform pattern in a collagenous background of varying degrees. Also usually present are perpendicular tumor cell fascicles that extend to the epidermis. The small intracytoplasmic inclusions are said to appear similar to red blood cells. The inclusion bodies have been shown to be made up of densely packed vimentin and actin filaments. The tumor often causes a dome-shaped elevation of the overlying structures, forming a protuberant or polypoid nodule. The overlying epidermis can display a host of changes, including acanthosis, hyperkeratosis, parakeratosis, rete ridge flattening, entrapment of adnexal structures, and, rarely, ulceration. HP:0025198 Inflammatory cap polyp biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025198 A non-malignant sessile or pedunculated polyp in the colon and rectum that displays a cap of inflammatory granulation tissue with fibrinopurulent exudate that covers the polyp. HP:0100789 Torus palatinus biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0100789 UMLS:C0266981|SNOMEDCT_US:46752004|UMLS:C0447996|SNOMEDCT_US:244683008|UMLS:C1840236|SNOMEDCT_US:697945009 Palate exostoses|Prominent midpalatal ridge|Palatal torus|Maxillary torus|Palatal tori A bony protrusion present on the midline of the hard palate. HP:0100798 Fingernail dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100798 UMLS:C4020952 Abnormal fingernail development|Dysplastic fingernails An abnormality of the development of the fingernails. HP:0100799 Neoplasm of the middle ear biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100799 SNOMEDCT_US:127006003|UMLS:C0345617|NCIT:C3262 Middle ear tumor|Neoplasia of the middle ear A tumor (abnormal growth of tissue) of the middle ear. HP:0100796 Orchitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100796 SNOMEDCT_US:274718005|UMLS:C0029191|MSH:D009920 Inflammation of testicles Testicular inflammation. HP:0100797 Toenail dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100797 UMLS:C3276623 Dysplastic toenails|Abnormal toenail development An abnormality of the development of the toenails. HP:0100795 Abnormally straight spine biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0100795 UMLS:C4021969 Abnormally straight spine The absence of the normal curvature of the vertebral column. HP:0025190 Bilateral tonic-clonic seizure with generalized onset biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025190 Generalized tonic-clonic seizures without focal onset|Generalised-onset tonic-clonic seizure|Primary generalised tonic-clonic seizure|Primarily generalised tonic-clonic seizures|Bilateral tonic-clonic seizure with generalised onset|Generalized tonic-clonic seizure without partial onset|Primary generalised tonic-clonic seizures|Primarily generalized tonic-clonic seizures|Generalized tonic-clonic seizure without focal onset|Primary generalized tonic-clonic seizures|Generalised tonic-clonic seizure without partial onset|Generalised tonic-clonic seizure without focal onset|Generalized-onset tonic-clonic seizure|Generalised tonic-clonic seizures without focal onset|Primary generalized tonic-clonic seizure 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. HP:0100792 Acantholysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100792 UMLS:C0000887|SNOMEDCT_US:441837004|SNOMEDCT_US:43327007|UMLS:C0241128|MSH:D000051 Nikolsky's sign The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes. HP:0025191 obsolete Segmental myoclonic seizures biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025191 HP:0100790 Hernia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100790 MSH:D006547|SNOMEDCT_US:414403008|UMLS:C0019270|SNOMEDCT_US:52515009 Hernias HP:0025181 Abdominal aseptic abscess biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025181 An abscess-like lesion located within the abdomen. The lesions are localized in the spleen, liver, abdominal lymph nodes. The lesions represent visceral sterile collections of mature neutrophils that do not respond to antibiotics but regress quickly when treated with corticosteroids, but relapses occur frequently. HP:0025182 Localized area of pendulous skin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025182 Localised area of pendulous skin A confined region of lax skin that hangs below the level of the surrounding skin. Histopatholigically, there is a loss of elastic fibers in the dermis of the affected region. HP:0025186 Marcus Gunn jaw winking synkinesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025186 Trigemino-oculomotor synkinesis|Marcus Gunn jaw-winking syndrome|Pterygoid-levator synkinesis Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing. HP:0025188 Retinal vasculitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025188 Inflammation of retinal blood vessels as manifested by perivascular sheathing or cuffing, vascular leakage and/or occlusion. HP:0025134 Increased serum estradiol biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025134 Increased estradiol level|Increased serum oestradiol An elevation above normal limits of the concentration of estradiol in the circulation. HP:0001167 Abnormality of finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001167 UMLS:C2674737 Abnormalities of the fingers|Abnormality of finger An anomaly of a finger. HP:0025135 Abnormal serum estriol biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025135 A deviation from normal concentration of estriol in the circulation. HP:0025136 Increased serum estriol biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025136 An elevation above normal limits of estriol concentration in the circulation. HP:0002497 Spastic ataxia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002497 UMLS:C1849156|MSH:C564815 HP:0001166 Arachnodactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001166 UMLS:C0003706|MSH:D054119|SNOMEDCT_US:62250003 Long, slender fingers|Long slender fingers|Spider fingers Abnormally long and slender fingers ("spider fingers"). HP:0025137 Decreased serum estriol biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025137 A reduction below normal limits of estriol in the circulation. HP:0025138 Abnormal serum estrone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025138 A deviation from the normal concentration of circulating estrone. HP:0025139 Increased serum estrone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025139 An elevation above normal limits of the concentration of estrone in the circulation. HP:0100808 Gastric diverticulum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100808 MSH:D013273|UMLS:C0038355|SNOMEDCT_US:75198005 Stomach diverticulum An outpouching of the gastric wall. HP:0001169 Broad palm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001169 UMLS:C0264142|SNOMEDCT_US:48251003 Broad palm|Wide palm|Broad hand|Broad hands For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length. HP:0100809 Scalp tenderness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100809 UMLS:C4073183|SNOMEDCT_US:75851004|UMLS:C0151206|UMLS:C0240940|MEDDRA:10039521 Scalp pain|Scalp hypersensitivity|Allodynia of scalp|Scalp tenderness Pain or discomfort of the scalp elicited by palpation. HP:0100806 Sepsis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100806 UMLS:C0036690|MSH:D018805 Infection in blood stream Systemic inflammatory response to infection. HP:0002490 Increased CSF lactate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002490 UMLS:C1167918 Increased CSF lactic acid|Increased cerebrospinal fluid lactate|Hyperlactatorachia Increased concentration of lactate in the cerebrospinal fluid. HP:0100807 Long fingers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100807 UMLS:C1858091 Long fingers The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand. HP:0002491 Spasticity of facial muscles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002491 UMLS:C4280570|UMLS:C1853404|UMLS:C4280571 Spasticity of the facial muscles|Increased stiffness of facial muscles|Increased tone of facial muscles Spasticity of one or more muscles innervated by the facial nerve. HP:0100804 Ungual fibroma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100804 UMLS:C0442880|SNOMEDCT_US:264561009 Periungual fibroma|Koenen tumor|Koenen's tumor|Parungual fibromas Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold) or subungual (originating under the nail plate). HP:0100805 obsolete Precocious menopause biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100805 HP:0100802 Malposition of the stomach biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100802 UMLS:C1402983 Gastric malposition|Abnormal stomach location|Gastric ectopia Abnormal anatomical location of the stomach. This feature may be due to intestinal malrotation. HP:0001163 Abnormality of the metacarpal bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001163 UMLS:C4021785 Abnormality of the long bone of hand|Anomaly of the metacarpal bones An abnormality of the metacarpal bones. HP:0002494 Abnormal rapid eye movement sleep biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002494 UMLS:C0392188|SNOMEDCT_US:69020003 Abnormal REM sleep Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tonus except for the eye and middle-ear muscles. There are then phases of rapid eye movements. HP:0025130 Decreased small intestinal mucosa lactase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025130 Lactase deficiency Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges. HP:0025131 Finger swelling biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025131 Swelling of fingers|Swollen fingers|Swollen finger Enlargement of the soft tissues of one or more fingers. HP:0100803 Abnormality of the periungual region biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100803 UMLS:C4021966 An abnormality of the region around the nails of the fingers or toes. HP:0002495 Impaired vibratory sensation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002495 SNOMEDCT_US:130980003|UMLS:C1295585 Decreased vibratory sense|Hypopallesthesia|Impaired vibratory sense|Impaired vibratory sensation|Decreased vibration sense|Diminished vibratory sense A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient. HP:0001161 Hand polydactyly biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001161 MEDDRA:10036064|SNOMEDCT_US:81793007|UMLS:C0158733 Supernumerary finger|Finger polydactyly|Extra finger|Polydactyly of the hand A kind of polydactyly characterized by the presence of a supernumerary finger or fingers. HP:0100800 Aplasia/Hypoplasia of the pancreas biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100800 UMLS:C4021968 Absent/small pancreas|Absent/underdeveloped pancreas A congenital underdevelopment (aplasia or hypoplasia) of the pancreas. HP:0002492 Morphological abnormality of the corticospinal tract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002492 UMLS:C4025704|UMLS:C4020852 Abnormality of the corticospinal tract|Involvement of the corticospinal pathways Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord. HP:0025132 Abnormal circulating estrogen level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025132 Abnormal circulating oestrogen level|Abnormal estrogen level A deviation from normal concentration of the hormone estrogen in the blood circulation. HP:0002493 Upper motor neuron dysfunction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002493 UMLS:C1839042|UMLS:C1504405 Corticospinal tract dysfunction|Pyramidal tract dysfunction A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs. HP:0025133 Abnormal serum estradiol biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025133 A deviation from normal concentrations of estradiol in the circulation. HP:0100801 Pancreatic aplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100801 UMLS:C4021967 Absent pancreas Aplasia of the pancreas. HP:0001162 Postaxial hand polydactyly biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001162 SNOMEDCT_US:205131007|UMLS:C0431904 Postaxial polydactyly of hands|Polydactyly affecting the 5th finger|Postaxial polydactyly of hand|Extra little finger|Extra pinkie finger|Extra pinky finger|Postaxial polydactyly of fingers Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger). HP:0100810 Pointed helix biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100810 UMLS:C4020951 Spock ear|Pointed ear|Elfin ear|Spock's ear|Vulcan ear HP:0025123 White streaks/specks on enamel. biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025123 Areas of white discoloration visible on the surface of the teeth (enamel) in the form of streaks or specks. HP:0001178 Ulnar claw biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001178 UMLS:C4025799 An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm. HP:0025124 Fragile teeth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025124 Enamel with tendency to chip|Spontaneous tooth fracture A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma. HP:0001176 Large hands biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001176 UMLS:C0426870|SNOMEDCT_US:249752003 large hand|Disproportionately large hands|Large hands HP:0025125 White lesion of the oral mucosa biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025125 White lesions of the oral mucosa are generally caused by a condition that increases the thickness of the epithelium. This increases the distance to the vascular bed and thereby tends to change the usual reddish color of the oral mucosa to white. Common causes include hyperkeratosis (thickening of the keratin layer), acanthosis (thickening of the spinous cell layer), increased edema in the epithelium (leukoedema), and reduced vascularity of the underlying lamina propria. Additionally, fibrin caps or surface ulcerations and collapsed bullae can appear white. HP:0001177 Preaxial hand polydactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001177 SNOMEDCT_US:445216006|SNOMEDCT_US:205135003|MSH:C536332|UMLS:C1395852 thumb polydactyly|Preaxial polydactyly of hands|Extra thumb|Polydactyly affecting the thumb|Supernumerary thumb Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits. HP:0025126 Oral hairy leukoplakia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025126 A corrugated white lesion of the oral mucosa that usually occurs on the lateral or ventral surfaces of the tongue and may have a shaggy or frayed appearance. HP:0025127 Actinic keratosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025127 Solar 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. HP:0025128 Reduced intraabdominal adipose tissue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025128 An abnormally reduced amount of adipose tissue in the abdominal cavity. HP:0100819 Intestinal fistula biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0100819 MEDDRA:10022647|MSH:D007412|UMLS:C0021833|SNOMEDCT_US:38851006 An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract. HP:0025129 Abnormal small intestinal mucosa morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025129 A structural anomaly of the mucous lining of the small intestine. HP:0100817 Renovascular hypertension biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100817 MSH:D006978|UMLS:C0020545|SNOMEDCT_US:123799005 Hypertension due to renal artery hyperplasia The presence of hypertension related to stenosis of the renal artery. HP:0001171 Split hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001171 UMLS:C0221373|SNOMEDCT_US:299034005 Split-hand|Ectrodactyly of the hand|Split hand|Claw-hand deformities|Claw hand|Hand ectrodactyly|Claw hands|Claw hand deformities 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. HP:0100818 Long thorax biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0100818 SNOMEDCT_US:298710001|UMLS:C0575484 Long rib cage Increased inferior to superior extent of the thorax. HP:0100816 Lip hyperpigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100816 UMLS:C4021963 Increased pigmentation on the lips|Hyperpigmentation of lip vermillion|Darkening of skin of the lips HP:0100813 Testicular torsion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100813 MSH:D013086|SNOMEDCT_US:81996005|SNOMEDCT_US:49198006|UMLS:C0037856 Spermatic cord torsion Testicular torsion is when the spermatic cord to a testicle twists, cutting off the blood supply. The most common symptom is acute testicular pain. HP:0100814 Blue nevus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100814 UMLS:C4020699|MSH:D049328|SNOMEDCT_US:40467008|UMLS:C0265985 Congenital dermal melanocytosis|Mongolian spot HP:0001172 Abnormal thumb morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001172 UMLS:C0575897|MSH:C536903|SNOMEDCT_US:299130003 Thumb deformity|Abnormality of the thumbs|Abnormality of the thumb An abnormal structure of the first digit of the hand. HP:0025121 obsolete Simple partial occipital seizures biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025121 HP:0100811 Aplasia/Hypoplasia of the colon biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100811 UMLS:C4021964 Absent/underdeveloped colon|Absent/small colon Congenital absence or underdevelopment of the colon. HP:0025122 Sawtooth acanthosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025122 Sawtoothed acanthosis A type of epidermal acanthosis characterized by a jagged (sawtooth) appearance of the rete ridges of the epidermis. HP:0100812 Halitosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0100812 SNOMEDCT_US:79879001|MSH:D006209|UMLS:C0018520|MEDDRA:10006326 Bad breath|Foetor ex ore Noticeably unpleasant odors exhaled in breathing. HP:0100820 Glomerulopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100820 SNOMEDCT_US:197679002|UMLS:C0268731 Diseased glomeruli Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron. HP:0100821 Urethrocele biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100821 UMLS:C0238502|ICD-9:618.03|SNOMEDCT_US:12068006 The prolapse of the female urethra into the vagina. HP:0025112 Sound sensitivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025112 Noise sensitivity Decreased tolerance to sound. HP:0001145 obsolete Chorioretinopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001145 HP:0002476 Primitive reflex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002476 UMLS:C1838319 Primitive reflexes|Archaic reflex The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant. HP:0025113 Misophonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025113 An adverse response (dislike) to sound no matter what volume the sound is, characterized by a strong negative reaction to soft sounds that can sometimes be further triggered by seeing the source of the offending sound. HP:0001146 obsolete Pigmentary retinal degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001146 HP:0002474 Expressive language delay biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002474 UMLS:C0454641|UMLS:C1847610|UMLS:C4280573|SNOMEDCT_US:229734008 Deficit in expressive language|Communication delay A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. HP:0025114 Hypergranulosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025114 Hypergranulosis is an increased thickness of the stratum granulosum. HP:0001144 Orbital cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001144 UMLS:C0155285|SNOMEDCT_US:31021007 Cyst of eye socket|Orbital cysts 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). HP:0002475 Myelomeningocele biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002475 SNOMEDCT_US:414667000|SNOMEDCT_US:203994003|UMLS:C0025312|MSH:D008591|Fyler:4309 Spina bifida cystica|Meningomyelocele Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column. HP:0025115 Civatte bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025115 Colloid bodies of Civatte|Cytoid bodies|Hyaline bodies|Colloid 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 HP:0001149 Lattice corneal dystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001149 UMLS:C0155127|SNOMEDCT_US:1192004|MSH:D028227|SNOMEDCT_US:361199007 Biber haab dimmer dystrophy The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea. HP:0025116 Fetal distress biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025116 Foetal distress An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile. HP:0025117 Rete ridge flattening biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025117 Flattened rete pegs|Flattened rete ridges Rete pegs (or ridges) are the epithelial extensions that project into the underlying connective tissue in both skin and mucous membranes. Rete ridge flattening refers to the loss of these projections so that the skin epithelium acquires a relatively flat appearance. HP:0002478 Progressive spastic quadriplegia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002478 UMLS:C1859736 Progressive spastic quadriparesis HP:0025118 Lip discoloration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025118 Lightening or darkening of the lips from their usual coloring. HP:0001147 Retinal exudate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001147 UMLS:C0240897|SNOMEDCT_US:39832008 Retinal exudates Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina. HP:0025119 Violet lip discoloration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025119 An alteration of the color of the lip to take on a violet color. This term does not include cyanosis. HP:0100828 Increased T cell count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100828 UMLS:C4021960 Increase in T cell count|Increase in T cell number An abnormal increase in the total number of T cells detected in the blood. HP:0100829 Galactorrhea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100829 UMLS:C3665358|MSH:D005687 Galactorrhoea|Spontaneous milk flow from breast Spontaneous flow of milk from the breast, unassociated with childbirth or nursing. HP:0100826 Neoplasm of the nail biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100826 UMLS:C4021961|NCIT:C3262 Nail tumor A tumor (abnormal growth of tissue) of the nail. HP:0100827 Lymphocytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100827 SNOMEDCT_US:67023009|UMLS:C0024282|MSH:D008218 High lymphocyte count Increase in the number or proportion of lymphocytes in the blood. HP:0001141 Severely reduced visual acuity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001141 SNOMEDCT_US:397541004|UMLS:C1301509 Severe visual impairment|Severely impaired vision|Marked vision impairment|Severe reduction in visual acuity|Severe visual loss|Severe vision loss 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). HP:0002472 Small cerebral cortex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002472 UMLS:C1837503 Decreased volume of cerebral cortex Reduced size of the cerebral cortex. HP:0001142 Lenticonus biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001142 SNOMEDCT_US:253221000|UMLS:C0239119 A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly. HP:0100825 Cheilitis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0100825 SNOMEDCT_US:7847004|MSH:D002613|UMLS:C0007971|UMLS:C4280288 Red and sore lips|Inflammation of the lips Inflammation of the lip. HP:0100822 Rectocele biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100822 MSH:D020047|ICD-9:618.04|SNOMEDCT_US:62730001|SNOMEDCT_US:447072005|UMLS:C0149771 A Rectocele results from a tear in the rectovaginal septum (which is normally a tough, fibrous, sheet-like divider between the rectum and vagina). Rectal tissue bulges through this tear and into the vagina as a hernia. There are two main causes of this tear: childbirth, and hysterectomy. HP:0025110 Placoid macular lesion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025110 Yellow/white, sharply delineated lesion, typically of inflammatory nature, involving the macula. HP:0002470 Nonprogressive cerebellar ataxia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002470 UMLS:C1845029 HP:0001140 Limbal dermoid biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001140 SNOMEDCT_US:5131000119107|UMLS:C1867616|UMLS:C0496897|SNOMEDCT_US:92097004 Benign eye tumor|Epibulbar dermoid|Epibulbar dermoids A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid). HP:0100823 Genital hernia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100823 UMLS:C4021962 HP:0100831 Abnormality of vitamin K metabolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100831 UMLS:C4021958 Abnormality of vitamin K metabolism Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade. HP:0100832 Vitreous floaters biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100832 UMLS:C0016242|SNOMEDCT_US:420999000|SNOMEDCT_US:15013002|SNOMEDCT_US:162278001|UMLS:C1720491 Flitting flies|Mouches volantes|Spots in front of eyes|Eye floaters|Vitreous condensations|Myodesopsia|Vitreous opacities|Vitreous debris|Vitreous veils|Myodeopsia Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent. HP:0100830 Round ear biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100830 UMLS:C4021959 Round ear HP:0025109 Reduced red cell pyruvate kinase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025109 Reduced erythrocyte pyruvate kinase activity Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate. HP:0001156 Brachydactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001156 UMLS:C0221357|MSH:D059327|SNOMEDCT_US:43476002 Short fingers or toes|Brachydactyly syndrome 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. HP:0002487 Hyperkinetic movements biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002487 SNOMEDCT_US:45352006|SNOMEDCT_US:44548000|UMLS:C0424295|UMLS:C0037763|MSH:D013035|MSH:D006948 Hyperkinesia|Muscle spasms|Hyperkinesis Motor hyperactivity with excessive movement of muscles of the body as a whole. HP:0025101 Dysgenesis of the hippocampus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025101 Hippocampal dysgenesis Structural abnormality of the hippocampus related to defective development. HP:0002488 Acute leukemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002488 SNOMEDCT_US:91855006|UMLS:C0085669|SNOMEDCT_US:24072005|UMLS:C4280572 Acute leukaemia|Acute blood cancer|Acute leukemias A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts). HP:0025102 Dysgenesis of the basal ganglia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025102 Basal ganglia dysgenesis Structural abnormality of the basal ganglia related to defective development. HP:0025103 Umbilicated nodule biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025103 A type of skin nodule that has a small depression that resembles a navel (i.e., is umbilicated). HP:0002486 Myotonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002486 SNOMEDCT_US:3434004|UMLS:C0027125|MSH:D009222 Delayed relaxation of muscle fibers after contraction An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation. HP:0001155 Abnormality of the hand biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001155 SNOMEDCT_US:299033004|UMLS:C0018564|MSH:D006226 Hand anomalies|Abnormal hands|Hand deformities|Abnormality of the hand An abnormality affecting one or both hands. HP:0025104 Capillary malformation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025104 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). HP:0025105 Nevus anemicus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025105 Naevus anaemicus A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots. HP:0025106 Nevus roseus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025106 A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life. HP:0025107 Cutis marmorata telangiectatica congenita biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025107 A congenital vascular malformation that presents as localized or generalized erythematous-telangiectatic lesions with a reticular pattern; the lesions are almost always present at birth or develop in the first days of life. Cutis marmorata telangiectatica congenita (CMTC) appears as marble-like pattern (mottling) on the surface of the skin. In contrast to cutis marmorata, the marbling is more severe and always visible. HP:0025108 Angioma serpentinum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025108 Angioma serpiginosum consists of punctate, tightly packed telangiectatic lesions. Characteristic histopathological features are dilated and tortuous capillaries involving the uppermost part of the dermis. HP:0001159 Syndactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001159 Fyler:4174|MSH:D013576|SNOMEDCT_US:373413006|UMLS:C0039075 Webbed fingers or toes Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism". HP:0100839 Hepatic agenesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100839 UMLS:C0266258|SNOMEDCT_US:3650004 Failed liver development|Liver agenesis Absence of the liver owing to a failure of the liver to develop. HP:0002480 Hepatic encephalopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002480 SNOMEDCT_US:13920009|UMLS:C0019151|MSH:D006501|SNOMEDCT_US:449902003 Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes. HP:0100837 Atrophodermia vermiculata biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100837 SNOMEDCT_US:400126005|SNOMEDCT_US:400059005|UMLS:C0263428|MSH:C537412 Vermiculata atrophoderma Symmetrical vermiform facial atrophy that affects mainly the forehead, the chin, the ear lobes and helices. Atrophodermia vermiculata is characterized by erythema and follicular plugs on the cheeks, developing into painless reticular impressions. HP:0100838 Recurrent cutaneous abscess formation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100838 UMLS:C4021957 An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses. HP:0100835 Benign neoplasm of the central nervous system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100835 UMLS:C0347509|SNOMEDCT_US:92048008 Benign neoplasm of the CNS HP:0002483 Bulbar signs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002483 UMLS:C1856507 HP:0001152 Saccadic smooth pursuit biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001152 UMLS:C1836479 Saccadic pursuit movements|Saccadic slow pursuit An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements. HP:0001153 Septate vagina biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001153 UMLS:C0266411|SNOMEDCT_US:47054003 Double vagina The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases. HP:0100836 Malignant neoplasm of the central nervous system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100836 UMLS:C0348374|SNOMEDCT_US:372062007 Malignant neoplasm of the CNS A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns. HP:0100833 Neoplasm of the small intestine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100833 NCIT:C3262|SNOMEDCT_US:126832004|UMLS:C0345832 Small intestine tumor The presence of a neoplasm of the small intestine. HP:0001150 obsolete Choroidal sclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001150 HP:0001151 Impaired horizontal smooth pursuit biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001151 UMLS:C1866753 Impaired horizontal visual pursuit|Abnormal horizontal ocular pursuit An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects. HP:0100834 Neoplasm of the large intestine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100834 SNOMEDCT_US:126837005|NCIT:C3262|UMLS:C0009404|MSH:D015179 Large intestine tumor The presence of a neoplasm of the large intestine. HP:0025100 Abnormal morphology of the hippocampus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025100 Abnormality of hippocampus morphology Any structural anomaly of the hippocampus, HP:0100842 Septo-optic dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100842 SNOMEDCT_US:7611002|UMLS:C0338503|MSH:D025962 De Morsier syndrome Underdevelopment of the optic nerve and absence of the septum pellucidum. HP:0100843 obsolete Glioblastoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100843 HP:0100840 Aplasia/Hypoplasia of the eyebrow biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100840 UMLS:C2266639|UMLS:C3551430|UMLS:C1848765|UMLS:C4021956 Hypotrophic eyebrow|Sparse or absent eyebrows|Sparse to absent eyebrows|Agenesis of eyebrow|Sparse/absent eyebrows|Missing eyebrow|Absence of eyebrow|Lack of eyebrow Absence or underdevelopment of the eyebrow. HP:0100841 Microgastria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100841 SNOMEDCT_US:83714006|UMLS:C0266150 A developmental anomaly wtih a small tubular or saccular midline stomach. HP:0025180 Centrilobular ground-glass opacification on pulmonary HRCT biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025180 Centrilobular groundglass opacity|Centrilobular groundglass opacification A hazy area of increased attenuation in centrilobular areas of the lung with preserved bronchial and vascular markings seen on a computer tomography scan. Centrilobular refers to a location that is central within secondary pulmonary lobules. HP:0025178 Subpleural interstitial thickening biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025178 Subpleural scarring Increase in thickness of the subpleural interstitium. HP:0025179 Ground-glass opacification on pulmonary HRCT biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025179 A descriptive term that is applied to computer tomography imaging and that refers to a hazy area of increased attenuation in the lung with preserved bronchial and vascular markings. HP:0025170 Neuronal/glioneuronal neoplasm of the central nervous system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025170 Neuronal and mixed neuronal-glial tumor|Neuronal/glioneuronal neoplasm of the CNS|Glioneuronal tumor A central nervous system neoplasm with neuronal and, less consistently, glial differentiation. HP:0025171 Rosette-forming glioneuronal tumor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025171 Rosette-forming glioneuronal tumor of the fourth ventricle|Rosette-forming glioneuronal tumour|Rosette-forming glioneuronal neoplasm A tumor of the central nervous system that has components of both neurocytic and glial areas, whereby usually the glial component of the tumour predominates. Rossette-forming glioneuronal tumors (RGNT) have biphasic cytoarchitecture with two elements; neurocytic rosettes resembling Homer-Wright rosettes, and astrocytic component resembling a pilocytic astrocytoma. RGNTs are low-grade tumors that lack histopathological signs of malignancy. HP:0100848 Neoplasm of the male external genitalia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100848 NCIT:C3262|UMLS:C4020950 Neoplasia of the male external genitalia A tumor (abnormal growth of tissue) of the male external genitalia. HP:0025172 Smooth septal thickening on pulmonary HRCT biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025172 Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a smooth appearance of the interlobular septa. HP:0025173 Nodular septal thickening on pulmonary HRCT biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025173 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. HP:0100849 Neoplasm of the scrotum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100849 NCIT:C3262|SNOMEDCT_US:126905005|UMLS:C0341790 Neoplasia of the scrotum|Scrotum tumor A tumor (abnormal growth of tissue) of the scrotum. HP:0025174 Irregular septal thickening on pulmonary HRCT biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025174 Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with an irregular appearance of the interlobular septa. THis feature is often associated with distortion of lung architecture. HP:0025175 Honeycomb lung biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025175 Extensive interstitial fibrosis with alveolar disruption and bronchiolectasis. HP:0100847 Palmoplantar pustulosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100847 MSH:D011565|UMLS:C0030246|MEDDRA:10050185|SNOMEDCT_US:27520001 Palmoplantar pustules|Pustulosis palmaris et plantaris|Pustulosis of palms and soles A chronic, relapsing, pustular eruption that is localized to the palms and soles. HP:0025176 Intralobular interstitial thickening biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025176 A fine reticular pattern on high-resolution computeed tomography, with the visible lines separated by a few millimeters. Regions of the lung with intralobular interstitial thickening characteristically show a fine lacelike or netlike appearance. HP:0100844 Pancreatic fistula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100844 UMLS:C0030290|MSH:D010185|SNOMEDCT_US:25803005 HP:0100845 Anaphylactic shock biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100845 MSH:D000707|SNOMEDCT_US:39579001|UMLS:C0002792 Anaphylaxis An acute hypersensitivity reaction due to exposure to a previously encountered antigen. HP:0025177 Peribronchovascular interstitial thickening biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025177 Thickening of the peribronchovascular interstitium, a connective tissue sheath that surrounds the central bronchi and pulmonary arteries. The peribronchovascular interstitium extends from the level of the pulmonary hila into the peripheral lung. This feature may be ascertained on high-resolution computer tomography. HP:0100853 Hypoplastic areola biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0100853 UMLS:C3276032 Hypoplastic areolae Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple. HP:0100854 Aplasia of the musculature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100854 UMLS:C4021955 Absent musculature Absence of the musculature. HP:0100851 Abnormal emotion/affect behavior biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100851 UMLS:C4020949 Abnormal emotion/affect behaviour An abnormality of emotional behaviour. HP:0100852 Abnormal fear/anxiety-related behavior biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100852 UMLS:C4018849 Abnormal fear/anxiety-related behaviour An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response. HP:0100850 Neoplasm of the penis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100850 MSH:D010412|SNOMEDCT_US:126896003|NCIT:C3262|UMLS:C0030849 Penis tumor|Neoplasia of the penis A tumor (abnormal growth of tissue) of the penis. HP:0025167 Fragmented elastic fibers in the dermis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025167 Fragmented elastic fibres in the dermis Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers. HP:0025168 Left ventricular diastolic dysfunction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025168 Abnormal function of the left ventricule during left ventricular relaxation and filling. HP:0025169 Left ventricular systolic dysfunction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025169 Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent. HP:0025160 Abnormal temper tantrums biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025160 A temper tantrum is an emotional outburst usually triggered by a sense of frustration and manifested as whining and crying, screaming, kicking, hitting, and breath holding. Temper tantrums are normal in toddlers and young children and usually happen between the ages of one to three years. Temper tantrums may be considered abnormal if they occur at an unusually high frequency, are of unusual severity, or occur at an old age than usual. HP:0025161 Frequent temper tantrums biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025161 Temper tantrums that occur more frequently than usual. HP:0100859 Dilatation of superior mesenteric artery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100859 UMLS:C0264974|SNOMEDCT_US:65498003 Superior mesenteric artery aneurysm Abnormal outpouching or sac-like dilatation in the wall of the superior mesenteric artery . HP:0025162 Severe temper tantrums biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025162 Temper tantrums whose severity is more severe than usual. For instance, a temper tantrum might be considered to be severe if a child loses control so completely that the child cannot control the tantrum on its own, continuing until it becomes exhausted or a parent intervenes. HP:0025163 Abnormality of optic chiasm morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025163 A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves. HP:0100857 Flat sella turcica biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100857 UMLS:C4021952 An abnormally flat sella turcica. HP:0100858 Dilatation of celiac artery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100858 SNOMEDCT_US:111290000|UMLS:C0264969 Celiac artery aneurysm|Dilatation of coeliac artery Abnormal outpouching or sac-like dilatation in the wall of the celiac artery. HP:0025164 Increased number of elastic fibers in the dermis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025164 Increased number of elastic fibres in the dermis An elevated number of elastic fibers, that is of bundles of proteins and glycoproteins in the extracellular matrix in the reticular dermis. Elastic fibers can stretch and recoil back to their original length. This feature can be appreciated on histology with hematoxylin and eosin or other staining methods. HP:0100855 Triceps hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100855 UMLS:C4021954 Underdeveloped triceps|Small triceps Hypoplasia of the triceps muscle. HP:0025165 Clumping of elastic fibers in the dermis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025165 Clumping of elastic fibres in the dermis Formation of clumps or aggregates that make up small protuberances from elastic fibers within the dermis (especially the reticular dermis). HP:0100856 Poorly ossified vertebrae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100856 UMLS:C4021953 Decreased ossification of the vertebral bodies. HP:0025166 Thickened elastic fibers in the dermis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025166 Thickened elastic fibres in the dermis An increase of the diameter of elastic fibers in the dermis. HP:0100864 Short femoral neck biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0100864 UMLS:C1836184 Short femoral necks|Short neck of thighbone|Hypoplastic femoral neck|Hypoplasia of the femoral neck An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). HP:0100865 Broad ischia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100865 UMLS:C1836868 Increased width of the ischium, which forms the lower and back part of the hip bone. HP:0100862 Aplasia of the femoral head biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100862 UMLS:C4021950 Absent femoral head HP:0100863 Aplasia of the femoral neck biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100863 UMLS:C4021949 Absent neck of thighbone HP:0100860 Dilatation of Inferior mesenteric artery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100860 SNOMEDCT_US:195289005|UMLS:C0340625 Inferior mesenteric artery aneurysm Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery . HP:0100861 Sclerotic vertebral body biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100861 UMLS:C4021951 Vertebral body sclerosis Increase in bone density of the vertebral body. HP:0025156 Dependency on intravenous nutrition biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025156 Dependency on IV nutrition Inability to be weaned from intravenous (parenteral) nutrition, as judged by the hydration status (urine output, blood urea nitrogen, creatinine, urine sodium concentration), ability to maintain weight, stool output, and serum electrolyte status. HP:0025157 Increased urinary sedoheptulose biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025157 An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group. HP:0001187 Hyperextensibility of the finger joints biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001187 UMLS:C1844577 Hyperextensible digits|Hyperextensible finger|Finger joint hyperextensibility|Hyperextensible fingers The ability of the finger joints to move beyond their normal range of motion. HP:0025158 Hyperautofluorescent retinal lesion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025158 Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging. HP:0001188 Hand clenching biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001188 UMLS:C0239815 Clenched hands|Hand clenching An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. HP:0025159 Hypoautofluorescent retinal lesion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025159 Hypo-autofluorescent retinal lesion Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging. HP:0001181 Adducted thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001181 UMLS:C3554617 Adducted thumbs|Inward turned thumb In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger. HP:0001182 Tapered finger biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001182 UMLS:C0426886|SNOMEDCT_US:249768009 Tapering fingers|Distally tapering fingers|Tapered finger|Tapered fingers|Tapered fingertips The gradual reduction in girth of the finger from proximal to distal. HP:0025150 Hypoganglionosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025150 Sparse and small myenteric ganglia HP:0001180 Hand oligodactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001180 SNOMEDCT_US:71358006|UMLS:C0728895 Hand has less than 5 fingers A developmental defect resulting in the presence of fewer than the normal number of fingers. HP:0025151 Ganglioneuromatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025151 Hyperplastic submucosal and myenteric plexus containing an increased number of ganglion cells, glial cells and nerve fibers. HP:0025152 Poor visual behavior for age biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025152 Poor visual behaviour for age|Abnormal visual behavior for age|Abnormal visual behaviour for age Lack of visual responsiveness or decrease in visual capabilities suggesting a lack of visual responsiveness or decrease in visual capabilities in an infant or young child in which visual behavior fails to meet normal developmental milestones. HP:0100869 Palmar telangiectasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100869 UMLS:C4020948 Telangiectases of palms and soles|Teleangiectases of palms The presence of telangiectases on the skin of palm of hand. HP:0025153 Transient biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025153 Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration. HP:0100866 Short iliac bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100866 UMLS:C1849063 Short pelvis bones Underdevelopment of the iliac bones. HP:0025154 Portosystemic collateral veins biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025154 Collateral biliary circulation|Collateral biliary veins Presence of biliary veins that serve as a collateral channel to the systemic circulation HP:0100867 Duodenal stenosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0100867 UMLS:C0238093|UMLS:C1860791|MSH:C535720|MEDDRA:10050094|SNOMEDCT_US:73120006 Duodenal stenosis/atresia The narrowing or partial blockage of a portion of the duodenum. HP:0025155 Abnormality of hepatobiliary system physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025155 A functional anomaly of the hepatobiliary system HP:0100875 Hemimacroglossia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100875 UMLS:C4021947|UMLS:C4280287 Increased size of half of the tongue|Hypertrophy of half of the tongue|Hemiglossal hypertrophy|Hyperplasia of half of the tongue|Large half of tongue|Hemiglossal hyperplasia Increased length and width of one half of the tounge. HP:0100876 Infra-orbital crease biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0100876 UMLS:C1857280 Crease in skin under the eye|Infraorbital creases|Underorbital skin creases|Groove in skin under the eye|Infraorbital crease Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma. HP:0100874 Thick hair biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0100874 UMLS:C4073184 Increased hair density|Increased follicular density|Thick hair Increased density of hairs, i.e., and elevated number of hairs per unit area. HP:0100871 Abnormality of the palm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100871 UMLS:C4021948 Abnormality of the palm An abnormality of the palm, that is, of the front of the hand. HP:0100872 Abnormality of the plantar skin of foot biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100872 UMLS:C4020946 Minor feet anomalies An abnormality of the plantar part of foot, that is of the soles of the feet. HP:0100870 Plantar telangiectasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100870 UMLS:C4020947 Teleangiectases of soles|Plantar teleangiectasia|Telangiectases of soles Telangiectases (small dilated blood vessels) located on the skin of sole of foot. HP:0025145 Rigors biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025145 Rigours Severe chills with violent shivering. A rigor is an episode of shaking or exaggerated shivering which can occur with a high fever. HP:0025146 Foveal degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025146 Deterioration of the tissue of the fovea, i.e.,the region of sharpest vision within the macula of the retina. HP:0025147 Beaten bronze macular sheen biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025147 Beaten-bronze macular sheen|Beaten metal macular appearance|Beaten-bronze macular appearance A shiny appearance of the macula, which is often called a beaten bronze appearance. HP:0001199 Triphalangeal thumb biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001199 UMLS:C0241397|SNOMEDCT_US:205308004|MSH:C573898 Accessory phalanx of the thumb|Triphalangy of thumb|Finger-like thumb|Digitalized thumb|Triphalangeal thumbs A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb. HP:0025148 Dark choroid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025148 A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid). HP:0025149 Atrophic muscularis propria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025149 Degenerative enteric myopathy|Autonomic visceral myopathy Partial or complete wasting (loss) of muscularois propria tissue that was once present. The atrophy may involve a marked vacuolar degeneration of myocytes, loss of muscle fibers and some cases a highly characteristic honeycomb fibrosis. HP:0001193 Ulnar deviation of the hand or of fingers of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001193 UMLS:C4048199 HP:0001191 Abnormality of the carpal bones biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001191 UMLS:C1840535 Abnormal wrist bones|Anomalous carpal bones|Carpal bone anomalies|Abnormal carpal bones An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate). HP:0025140 Decreased serum estrone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025140 A reduction below normal limits of the concentration of estrone in the circulation. HP:0001196 Short umbilical cord biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001196 SNOMEDCT_US:59795007|UMLS:C0266786 Short umbilical cord Decreased length of the umbilical cord. HP:0100879 Enlarged ovaries biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100879 SNOMEDCT_US:66998000|UMLS:C0392039 Enlarged ovaries HP:0025141 Gingival calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025141 Gingival calcifications Ectopic deposition of calcium salts found in the gingiva. HP:0025142 Constitutional symptom biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025142 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. HP:0001197 Abnormality of prenatal development or birth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001197 UMLS:C4025797 Abnormality of prenatal development or birth An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. HP:0100877 Renal diverticulum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100877 UMLS:C2315541|SNOMEDCT_US:433036004 Caliceal diverticulum|Pelvic diverticulum|Renal pelvic diverticulum Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system. HP:0025143 Chills biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025143 Chills A sudden sensation of feeling cold. HP:0001194 Abnormalities of placenta or umbilical cord biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001194 UMLS:C4025798 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). HP:0001195 Single umbilical artery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001195 MSH:D058529|UMLS:C1384670|SNOMEDCT_US:204470001 Two-vessel cord|Two vessel cord|2 vessel umbilical cord|Only one artery in umbilical cord instead of two|2 vessel cord|Two vessel umbilical cord Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord. HP:0025144 Shivering biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0025144 Shuddering|Shivering Involuntary contraction or twitching of the muscles. HP:0100878 Enlarged uterus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100878 SNOMEDCT_US:198319004|UMLS:C0151994 Enlarged uterus HP:0002418 Abnormality of midbrain morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002418 UMLS:C4021755 Abnormality of the midbrain|Abnormality of the mesencephalon|Abnormal shape of midbrain An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct. HP:0002419 Molar tooth sign on MRI biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002419 UMLS:C1865060 'molar tooth sign' on brain imaging'|Molar tooth sign|'molar tooth' sign on imaging An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth. HP:0003749 Pelvic girdle muscle weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003749 SNOMEDCT_US:249941003|UMLS:C0427064 Pelvic girdle weakness|Hip girdle weakness|Hip-girdle muscle weakness|Hip girdle muscle weakness Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis. HP:0002416 Subependymal cysts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002416 UMLS:C1833431 Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life. HP:0002410 Aqueductal stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002410 MSH:D006849|UMLS:C2936786 Aqueduct of Sylvius stenosis|Aqueduct stenosis|Narrowing of aqueduct of Sylvius Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum. HP:0003741 Congenital muscular dystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003741 SNOMEDCT_US:240059009|UMLS:C0699743 Muscular dystrophy, congenital HP:0002411 Myokymia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002411 SNOMEDCT_US:27678003|MSH:D020385|UMLS:C0684219 Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle. HP:0003740 Myotonia with warm-up phenomenon biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003740 UMLS:C4025575 Myotonia that occurs after a period of rest and decreases with continuing exercise. HP:0002414 Spina bifida biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002414 SNOMEDCT_US:67531005|Fyler:4157|UMLS:C0080178|MSH:D016135 Split spine 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. HP:0002415 Leukodystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002415 SNOMEDCT_US:192781003|UMLS:C0023520 Degeneration of white matter of brain Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies. HP:0003745 Sporadic biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003745 UMLS:C1853237 Isolated cases|No previous family history Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected. HP:0003744 Genetic anticipation with paternal anticipation bias biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003744 UMLS:C4025574|UMLS:C1834002 Paternal anticipation bias A type of genetic anticipation observed predominantly upon transmission from affected males. HP:0003743 Genetic anticipation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003743 MSH:D020132|UMLS:C0600498 A mode of inheritance in which the severity of a disorder increases or the age of onset decreases as the disorder is passed from one generation to the next. HP:0002427 Motor aphasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002427 SNOMEDCT_US:328681008|UMLS:C0917814|SNOMEDCT_US:229665008|SNOMEDCT_US:229654003|UMLS:C0003550|MSH:D001039 Broca's aphasia|Loss of expressive speech|Expressive aphasia Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it. HP:0003759 Hypoplasia of lymphatic vessels biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003759 UMLS:C4025570 Underdeveloped lymphatic vessels Congenital underdevelopment of lymph vessels. HP:0003758 Reduced subcutaneous adipose tissue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003758 UMLS:C1857657|UMLS:C0424631|SNOMEDCT_US:248316006 Decreased subcutaneous adipose tissue|Scanty adipose tissue|Reduced fat tissue below the skin|Decreased subcutaneous fat|Reduced subcutaneous fat A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness. HP:0002421 Poor head control biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002421 UMLS:C1836038 Poor head control Difficulty to maintain correct position of the head while standing or sitting. HP:0003752 Episodic flaccid weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003752 UMLS:C4025572 Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching. HP:0003750 Increased muscle fatiguability biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003750 UMLS:C0242979|SNOMEDCT_US:80449002|UMLS:C4025573|MSH:D018763 Muscle fatigue An abnormal, increased fatiguability of the musculature. HP:0002425 Anarthria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002425 SNOMEDCT_US:48257004|UMLS:C0234517 Loss of articulate speech A defect in the motor ability that enables speech. HP:0003756 Skeletal myopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003756 SNOMEDCT_US:75047002|UMLS:C1533847 HP:0002423 Long-tract signs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002423 UMLS:C1865903 Long tract signs HP:0003755 Type 1 fibers relatively smaller than type 2 fibers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003755 UMLS:C4025571 Type 1 fibres relatively smaller than type 2 fibres The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers. HP:0003725 Firm muscles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003725 UMLS:C1850656 HP:0003729 Enteroviral dermatomyositis syndrome biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003729 UMLS:C3806660 HP:0003720 Generalized muscle hypertrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003720 UMLS:C3805639 Generalized increase in muscle cell size|Generalised muscle hypertrophy Hypertrophy (increase in size) of muscle cells in a generalized (not localized) distribution. HP:0003724 Shoulder girdle muscle atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003724 UMLS:C1847766 Shoulder girdle muscle wasting|Shoulder girdle atrophy|Shoulder-girdle muscle atrophy Amyotrophy affecting the muscles of the shoulder girdle. HP:0003722 Neck flexor weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003722 UMLS:C1843637 Neck flexion weakness|Neck flexor muscle weakness Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior). HP:0003739 Myoclonic spasms biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003739 UMLS:C3806442 HP:0003738 Exercise-induced myalgia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003738 UMLS:C1850830 Muscle pain with exercise|Muscle pain on exercise|Muscle pain, exercise-induced|Exercise-induced muscle pain The occurrence of an unusually high amount of muscle pain following exercise. HP:0002408 Cerebral arteriovenous malformation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002408 MSH:D002538|SNOMEDCT_US:234142008|Fyler:2201|UMLS:C0917804 Cerebral AV malformation An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain. HP:0003737 Mitochondrial myopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003737 UMLS:C0162670|SNOMEDCT_US:16851005|MSH:D017240 A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers. HP:0002406 Limb dysmetria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002406 UMLS:C4280577|UMLS:C1854489 Uncoordinated limb movement A type of dysmetria involving the limbs. HP:0003736 Autophagic vacuoles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003736 UMLS:C0544966 The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue. HP:0003731 Quadriceps muscle weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003731 SNOMEDCT_US:300948004|UMLS:C0577655 Quadriceps weakness Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris). HP:0003730 EMG: myotonic runs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003730 UMLS:C4020837|UMLS:C4025576 EMG: spontaneous, repetitive electrical activity Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG). HP:0002403 Positive Romberg sign biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002403 UMLS:C0240914|SNOMEDCT_US:298310004 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. HP:0002404 Thickened superior cerebellar peduncle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002404 UMLS:C4021756 Thick cerebellar peduncles Increased width of the superior cerebellar peduncle. HP:0003733 Thigh hypertrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003733 UMLS:C1846674 Increased thigh size Muscle hypertrophy affecting the thighs. HP:0002401 Stroke-like episode biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002401 UMLS:C1857287 Stroke-like episodes|Strokelike episodes No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours. HP:0001129 Large central visual field defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001129 UMLS:C4025800 Large central loss of field of vision HP:0001123 Visual field defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001123 UMLS:C3887875|SNOMEDCT_US:12184005 Partial loss of field of vision|Visual field defects HP:0002454 Eye of the tiger anomaly of globus pallidus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002454 UMLS:C4025705 The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity if the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. HP:0003785 Decreased CSF homovanillic acid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003785 UMLS:C4280803 Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine. HP:0003784 Type 1 collagen overmodification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003784 UMLS:C1970463 HP:0001122 obsolete Aplasia/Hypoplasia of the choroid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001122 HP:0003783 Externally rotated/abducted legs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003783 UMLS:C1970461 HP:0002453 Abnormal globus pallidus morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002453 UMLS:C4025706 An abnormality of the globus pallidus. HP:0001128 Trichiasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001128 MSH:D058457|SNOMEDCT_US:60332004|UMLS:C0221259 Trichiasis of eyelid eyelashes|Ingrown eyelashes|Introversion of eyelashes Inversion and rubbing of the eyelashes against the globe of the eye. HP:0003789 Minicore myopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003789 UMLS:C1850674|MSH:C564969 Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers. HP:0002459 obsolete Dysautonomia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002459 HP:0001125 Transient unilateral blurring of vision biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001125 UMLS:C1865332 Transient unilateral blurred vision|Hemianopic blurring|Hemianoptic blurring of vision Transient blurring of vision associated with the aura phase of migraine. HP:0001126 Cryptophthalmos biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001126 SNOMEDCT_US:400951005|UMLS:C0311249 Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity. HP:0003787 Type 1 and type 2 muscle fiber minicore regions biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003787 UMLS:C4025568 Type 1 and type 2 muscle fibre minicore regions Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers. HP:0002457 Abnormal head movements biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002457 UMLS:C0476217|SNOMEDCT_US:271799000 Abnormal head movements HP:0002450 Abnormal motor neuron morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002450 UMLS:C4025707 Abnormal shape of motor neuron Any structural anomaly that affects the motor neuron. HP:0003782 Eunuchoid habitus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003782 UMLS:C4025569 A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more). HP:0003781 Excessive salivation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003781 SNOMEDCT_US:62718007|UMLS:C0037036|SNOMEDCT_US:53827007|SNOMEDCT_US:275295002|UMLS:C0013132|MSH:D012798 Watery mouth|Ptyalism|Mouth watering|Hypersalivation|Oversalivation|Excessive salivation|Excessive production of saliva Excessive production of saliva. HP:0002451 Limb dystonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002451 UMLS:C0751093|MSH:D004421 A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs. HP:0001120 Abnormality of corneal size biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001120 UMLS:C4025802 Any abnormality of the size or morphology of the cornea. HP:0002465 Poor speech biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002465 UMLS:C4280574|UMLS:C1848207 Difficulty speaking|Poor speech|Problems speaking HP:0003797 Limb-girdle muscle atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003797 UMLS:C1404521|UMLS:C1842552 Wasting of limb-girdle muscle|Limb-girdle myopathy Muscular atrophy affecting the muscles of the limb girdle. HP:0001134 Anterior polar cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001134 UMLS:C1855179|MSH:C538282 Polar cataract, anterior A polar cataract that affects the anterior pole of the lens. HP:0003796 Irregular iliac crest biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003796 UMLS:C1855180 Irregularity of the iliac crest, which is the superior border of the wing of the ilium. HP:0001135 Chorioretinal dystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001135 UMLS:C1857627 HP:0002463 Language impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002463 UMLS:C0023015|MSH:D007806|SNOMEDCT_US:62305002 Language disorder|Language impairment Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations. HP:0001132 Lens subluxation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001132 UMLS:C0023316|SNOMEDCT_US:65814009|MSH:D007906 Partially dislocated lens Partial dislocation of the lens of the eye. HP:0003795 Short middle phalanx of toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003795 UMLS:C4021723 Short middle phalanges of toes|Short middle bones (feet) Developmental hypoplasia (shortening) of middle phalanx of toe. HP:0002464 Spastic dysarthria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002464 SNOMEDCT_US:229684006|UMLS:C0454596|MSH:D004401 Rigid dysarthria A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality. HP:0001133 Constriction of peripheral visual field biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001133 UMLS:C0235095|SNOMEDCT_US:1151008|SNOMEDCT_US:267628004 Limited peripheral vision|Concentric narrowing of visual field|Constricted visual field|Constricted visual fields|Visual field constriction 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. HP:0001138 Optic neuropathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001138 UMLS:C3887709|SNOMEDCT_US:82108004 Damaged optic nerve HP:0001139 Choroideremia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001139 SNOMEDCT_US:75241009|MSH:D015794|UMLS:C0008525 HP:0001136 Retinal arteriolar tortuosity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001136 UMLS:C1843517 Tortuous retinal arterioles The presence of an increased number of twists and turns of the retinal arterioles. HP:0003799 Marked delay in bone age biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003799 UMLS:C1868549 Markedly retarded bone age|Marked retardation in skeletal maturation|Marked delay in bone age HP:0003798 Nemaline bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003798 UMLS:C3808039 Nemaline rods Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces. HP:0001137 Alternating esotropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001137 SNOMEDCT_US:39837002|UMLS:C0152205 Alternating cross eyes Esotropia in which either eye may be used for fixation. HP:0002461 Dense calcifications in the cerebellar dentate nucleus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002461 UMLS:C1859273 HP:0001131 Corneal dystrophy biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001131 SNOMEDCT_US:5587004|UMLS:C0010036 An abnormality of the cornea that is characterized by opacity of one or parts of the cornea. HP:0003791 Deposits immunoreactive to beta-amyloid protein biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003791 UMLS:C1853934 HP:0002460 Distal muscle weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002460 SNOMEDCT_US:249942005|UMLS:C0427065|UMLS:C1864696 Muscle weakness, distal|Weakness of distal muscles|Distal limb muscle weakness|Weakness of outermost muscles|Distal paresis|Distal limb weakness|Muscle weakness, distal limbs, due to neuronopathy|Distal limb muscle weakness due to peripheral neuropathy|Distal muscular weakness Reduced strength of the musculature of the distal extremities. HP:0001107 Ocular albinism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001107 UMLS:C0078917|MSH:D016117|SNOMEDCT_US:26399002 Absent pigmentation in the eye|Albinism, Ocular An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina. HP:0002438 Cerebellar malformation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002438 UMLS:C4025708 HP:0002439 Frontolimbic dementia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002439 UMLS:C1836151 HP:0003764 Nevus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003764 SNOMEDCT_US:21119008|MSH:D009508|UMLS:C0027962|SNOMEDCT_US:51697005|SNOMEDCT_US:400096001|MSH:D009506|UMLS:C0027960 Nevi|Naevi|Mole|Naevus A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin. HP:0001101 Iritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001101 UMLS:C0022081|SNOMEDCT_US:65074000|MSH:D007500 Inflammation of iris Inflammation of the iris. HP:0003763 Bruxism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003763 UMLS:C0006325|MSH:D002012|SNOMEDCT_US:90207007|SNOMEDCT_US:191983006 Teeth grinding Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep. HP:0001102 Angioid streaks of the fundus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001102 UMLS:C0002982|MSH:D000793 Laquer cracks of the retina|Angioid streaks|Knapp streaks|Angioid streaks of the retina|Angioid streaks, retina Irregular lines in the deep retina that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch's membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but are frequently idiopathic. HP:0003762 Uterus didelphys biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003762 UMLS:C0266393|SNOMEDCT_US:22504001|SNOMEDCT_US:15545001|UMLS:C0152240 Double uterus A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis. HP:0001100 Heterochromia iridis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001100 SNOMEDCT_US:247033008|MSH:C538115|UMLS:C0423318 Different colored eyes|Heterochromia irides Heterochromia iridis is a difference in the color of the iris in the two eyes. HP:0003761 Calcinosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003761 MSH:D002114|SNOMEDCT_US:6595006|UMLS:C0006663 Calcium buildup in soft tissues of body Formation of calcium deposits in any soft tissue. HP:0001105 Retinal atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001105 UMLS:C0521694|UMLS:C0035304|MSH:D012162|SNOMEDCT_US:95695004|SNOMEDCT_US:405722004 Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. HP:0003768 Periodic paralysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003768 UMLS:C1279412|SNOMEDCT_US:198030008 Episodic paralysis Episodes of muscle weakness. HP:0002436 Occipital meningocele biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002436 UMLS:C1848652|SNOMEDCT_US:445468002 A herniation of meninges through a congenital bone defect in the skull in the occipital region. HP:0001106 Periorbital hyperpigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001106 UMLS:C1844606 Dark circles around the eyes|Pigmentation around the eyes|Dark circles under the eyes|Periorbital melanosis|Darkening around the eyes|Infraorbital pigmentation|Idiopathic cutaneous hyperchromia at the orbital region Increased pigmentation of the skin in the region surrounding the orbit of the eye. HP:0001103 Abnormal macular morphology biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001103 SNOMEDCT_US:312999006|UMLS:C0730362 Abnormality of the macula|Macula abnormality|Macular abnormality A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina. HP:0002435 Meningocele biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002435 MSH:D008588|SNOMEDCT_US:171131006|UMLS:C0025299 Protrusion of the meninges through a defect of the vertebral column. HP:0003765 Psoriasiform dermatitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003765 MSH:D011565|UMLS:C0033860|SNOMEDCT_US:9014002 Psoriasis A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales). HP:0001104 Macular hypoplasia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001104 UMLS:C1849412 Underdevelopment of the macula lutea. HP:0003760 Percussion-induced rapid rolling muscle contractions biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003760 UMLS:C4280804 Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle. HP:0001118 Juvenile cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001118 UMLS:C0302254|SNOMEDCT_US:399336001 A type of cataract that is not apparent at birth but that arises in childhood or adolescence. HP:0001119 Keratoglobus biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0001119 UMLS:C3887531 Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea. HP:0001112 Leber optic atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001112 SNOMEDCT_US:58610003|UMLS:C0917796|MSH:D029242 Leber optic degeneration|Leber optic atrophy features Degeneration of retinal ganglion cells and their axons. HP:0003774 Stage 5 chronic kidney disease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003774 UMLS:C2316810|SNOMEDCT_US:433146000 End stage renal disease|Renal failure, endstage|End-stage renal failure|End-stage renal disease|Chronic renal failure|End stage renal failure|Stage 5 chronic kidney disease A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. HP:0002444 Hypothalamic hamartoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002444 UMLS:C0342418|MSH:C537158|SNOMEDCT_US:237714006 The presence of a hamartoma of the hypothalamus. HP:0001113 obsolete Early cataracts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001113 HP:0002442 Dyscalculia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002442 UMLS:C4280576|UMLS:C1411876|SNOMEDCT_US:47916000 Difficulty making arithmetical calculations A specific learning disability involving mathematics and arithmetic. HP:0001116 Macular coloboma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001116 UMLS:C1852767|MSH:C535968 Coloboma of the macula A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented. HP:0003779 Antegonial notching of mandible biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003779 UMLS:C1844509 Large antegonial notch of mandible|Deep antegonial notch of mandible HP:0002448 Progressive encephalopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002448 UMLS:C4280575|UMLS:C1838578 Progressive brain disease HP:0001117 Sudden loss of visual acuity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001117 UMLS:C4280600|UMLS:C4025803|UMLS:C4072828 Sudden decrease in vision|Sudden central visual loss Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy. HP:0003778 Short mandibular rami biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003778 UMLS:C4280545|UMLS:C1841648 Decreased size of mandibular ramus|Decreased height of mandibular ramus|Underdeveloped mandibular rami|Short mandibular ramus|Short body and ramus of mandible HP:0003777 Pili torti biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003777 MSH:C562485|SNOMEDCT_US:17170005|UMLS:C0263491 Flattened and twisted hair Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope. HP:0002445 Tetraplegia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002445 SNOMEDCT_US:11538006|MSH:D011782|UMLS:C0034372 Paralysis of all four limbs|Quadriplegia Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord. HP:0001114 Xanthelasma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001114 SNOMEDCT_US:75594004|UMLS:C0155210|SNOMEDCT_US:6400008|MSH:D014973|UMLS:C4280602|SNOMEDCT_US:63103006|UMLS:C0302314|UMLS:C4280601 Xanthelasma of periocular region|Fatty deposits on eyelids|Xanthelasma of eyelid|Xanthoma of eyelid|Xanthoma of periocular region|Xanthelasma palpebrarum|Xanthoma|Fatty deposits in skin around the eyes The presence of xanthomata in the skin of the eyelid. HP:0001115 Posterior polar cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0001115 UMLS:C1850191 Polar cataract, posterior A polar cataract that affects the posterior pole of the lens. HP:0002446 Astrocytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002446 MSH:D005911|SNOMEDCT_US:81415000|UMLS:C3887640 Increase in astrocyte number Proliferation of astrocytes in the area of a lesion of the central nervous system. HP:0003771 Pulp stones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003771 SNOMEDCT_US:57602001|UMLS:C1527284|UMLS:C4280546|MSH:D003784|UMLS:C4280259 True pulp stones|True denticles|Pulp denticles|Pulp stones|False pulp stones|Pulp calcifications|False denticles Multiple punctate calcifications in the dental pulp. HP:0004804 Congenital hemolytic anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004804 SNOMEDCT_US:42601008|MSH:D000745|UMLS:C4020827|UMLS:C0002881|SNOMEDCT_US:38911009 Congenital hemolytic anaemia|Congenital haemolytic anemia|Neonatal hemolytic anemia A form of hemolytic anemia with congenital onset. HP:0004809 Neonatal alloimmune thrombocytopenia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004809 MSH:D054098|SNOMEDCT_US:240305000|UMLS:C3853779 Low platelet count associated with maternal platelet-specific alloantibodies. HP:0004808 Acute myeloid leukemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004808 SNOMEDCT_US:91861009|SNOMEDCT_US:17788007|UMLS:C0023467|SNOMEDCT_US:413443009|MSH:D015470 Acute myelogenous leukemia|AML|Acute myeloid leukaemia|Acute myeloblastic leukemia|Acute myelocytic leukemia A form of leukemia characterized by overproduction of an early myeloid cell. HP:0004802 Episodic hemolytic anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004802 UMLS:C1859495 Episodic hemolytic anaemia|Episodic hemolysis A form of hemolytic anemia that occurs in repeated episodes. HP:0004800 Duodenal diverticula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004800 SNOMEDCT_US:197083003|UMLS:C0341266 HP:0100644 Melanonychia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100644 SNOMEDCT_US:402633003|UMLS:C1142305|MEDDRA:10058330 Brown or black discoloration of the nails. HP:0100645 Cystocele biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100645 ICD-9:618.00|SNOMEDCT_US:252005008|UMLS:C1394494 Dropped bladder|Bladder prolapse|Bladder hernia|Prolapsed bladder Anterior vaginal wall prolapse with bulging of the bladder into the vagina. HP:0100642 Neoplasm of the adrenal medulla biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100642 NCIT:C3262|UMLS:C0596046|SNOMEDCT_US:127023007 Medullar adrenal neoplasia The presence of a neoplasm of the adrenal medulla. HP:0100643 Abnormality of nail color biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100643 UMLS:C4020960 Abnormality of nail colour|Nail dyschromia|Abnormality of nail color An anomaly of the color of the nail. HP:0100640 Laryngeal cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100640 UMLS:C0339880|SNOMEDCT_US:195867000 Presence of a cyst (sac-like structure) located in the larynx. HP:0100641 Neoplasm of the adrenal cortex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100641 SNOMEDCT_US:127022002|SNOMEDCT_US:18365006|MSH:D000306|NCIT:C3262|UMLS:C0001618 Cortical adrenal neoplasia The presence of a neoplasm of the adrenal cortex. HP:0100648 Neoplasm of the tongue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100648 MSH:D014062|UMLS:C0040411|NCIT:C3262|SNOMEDCT_US:126778001 A tumor (abnormal growth of tissue) of the tongue. HP:0100649 Neoplasm of the oral cavity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100649 SNOMEDCT_US:235075007|SNOMEDCT_US:126797001|MSH:D009062|UMLS:C0026640|UMLS:C4280289|UMLS:C0149744|NCIT:C3262|SNOMEDCT_US:1071000119107 Lesion of oral cavity|Tumor of oral cavity A tumor (abnormal growth of tissue) of the oral cavity. HP:0100646 Thyroiditis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100646 UMLS:C0040147|SNOMEDCT_US:82119001|MSH:D013966 Thyroid gland inflammation Inflammation of the thyroid gland. HP:0100647 Graves disease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100647 UMLS:C0018213|SNOMEDCT_US:353295004|SNOMEDCT_US:55807009|MSH:D006111 Morbus Basedow An autoimmune disease where the thyroid is overactive, producing an excessive amount of thyroid hormones (a serious metabolic imbalance known as hyperthyroidism and thyrotoxicosis). This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients. HP:0100656 Thoracoabdominal wall defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100656 UMLS:C4022002 Thoracoabdominal schisis 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. HP:0100653 Optic neuritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100653 MSH:D009902|SNOMEDCT_US:66760008|UMLS:C0029134 Inflammation of the optic nerve. HP:0100654 Retrobulbar optic neuritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100654 SNOMEDCT_US:230507009|MSH:D009902|UMLS:C0085582 Retrobulbar neuritis Optic neuritis that occurs in the section of the optic nerve located behind the eyeball. HP:0100651 Type I diabetes mellitus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100651 SNOMEDCT_US:46635009|UMLS:C0011854|MSH:D003922 Type 1 diabetes|Type I diabetes|Insulin-dependent diabetes mellitus|Diabetes mellitus Type I|Juvenile diabetes mellitus A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin. HP:0100650 Vaginal neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100650 NCIT:C3262|UMLS:C0750081|UMLS:C0042258|SNOMEDCT_US:126921000|MSH:D014625 Vaginal neoplasia|Vaginal tumor A tumor (abnormal growth of tissue) of the vagina. HP:0100659 Abnormality of the cerebral vasculature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100659 UMLS:C4022001 Abnormality of the cerebral blood vessels An anomaly of the cerebral blood vessels. HP:0100657 Thoracoabdominal eventration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100657 UMLS:C0266682|SNOMEDCT_US:44518003 Celosomia|Kelosomia Congenital protrusion of the abdominal or thoracic viscera, usually with a defect of the sternum and ribs as well as of the abdominal walls. HP:0100658 Cellulitis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0100658 SNOMEDCT_US:128936008|UMLS:C0007642|MSH:D017192|MSH:D002481|SNOMEDCT_US:385627004|SNOMEDCT_US:128045006|UMLS:C0162627 Skin infection|Bacterial infection of skin|Skin infections A bacterial infection and inflammation of the skin und subcutaneous tissues. HP:0100665 Angioedema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100665 SNOMEDCT_US:400075008|SNOMEDCT_US:41291007|MSH:D000799|UMLS:C0002994 Angiooedema|Quincke edema|Angioneurotic oedema Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis. HP:0100662 Chondritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100662 UMLS:C0008439|SNOMEDCT_US:46176001 Cartilage inflammation Inflammation of cartilage. HP:0100663 Synotia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100663 SNOMEDCT_US:77471004|UMLS:C0266677 A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw. HP:0100660 Dyskinesia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100660 UMLS:C0013384|SNOMEDCT_US:9748009|MSH:D020820 Dyskinesis|Dyskinesias|Disorder of involuntary muscle movements A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements. HP:0100661 Trigeminal neuralgia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100661 UMLS:C0040997|MSH:D014277|SNOMEDCT_US:31681005 Tic douloureux A neuropathic disorder characterized by episodes of intense pain in the face, originating from the trigeminal nerve. One, two, or all three branches of the nerve may be affected. HP:0002199 Hypocalcemic seizures biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002199 UMLS:C1855841 Low calcium seizures|Seizures due to hypocalcemia HP:0002193 Pseudobulbar behavioral symptoms biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002193 UMLS:C4025720 Pseudobulbar behavioural symptoms Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc. HP:0002194 Delayed gross motor development biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002194 UMLS:C1837658|SNOMEDCT_US:430099007 Gross motor delay|Developmental delay, gross motor|Delayed gross motor skills|Limited gross motor development|Delayed motor skills A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling. HP:0002191 Progressive spasticity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002191 UMLS:C1859520 Spasticity, progressive Spasticity that increases in degree with time. HP:0002197 Generalized-onset seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002197 UMLS:C0234533|SNOMEDCT_US:246545002|UMLS:C1833488|MSH:D012640 Generalised onset seizure|Generalized seizures|Generalised-onset seizure|Generalized-onset seizures|Generalized onset seizure|Primary generalized seizure A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex. HP:0002198 Dilated fourth ventricle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002198 UMLS:C1847117 Enlarged fourth ventricle An abnormal dilatation of the fourth cerebral ventricle. HP:0100668 Intestinal duplication biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100668 UMLS:C0266166|UMLS:C4020702|SNOMEDCT_US:3845008 Gut duplication|Bowel duplication A developmental disorder in which there is a duplication the entire intestine or of a portion of the intestine. HP:0002195 Dysgenesis of the cerebellar vermis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002195 UMLS:C4025719 Defective development of the vermis of cerebellum. HP:0100669 Abnormal pigmentation of the oral mucosa biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100669 UMLS:C4020959 Abnormal pigmentation of the oral mucosa/gingivae|Abnormal pigmentation of oral mucous membrane|Abnormal color of the oral mucosa|Abnormal pigmentation of oral cavity An abnormality of the pigmentation of the mucosa of the mouth. HP:0002196 Myelopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002196 SNOMEDCT_US:48522003|UMLS:C0037928|MSH:D013118 HP:0100677 Vulval varicose vein biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100677 SNOMEDCT_US:48868008|UMLS:C0155796 Varicosity of veins in the vulval region. HP:0100678 Premature skin wrinkling biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0100678 MEDDRA:10040954|MSH:D015595|UMLS:C0037301|SNOMEDCT_US:247434009 Wrinkled skin|Premature skin wrinkling The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms. HP:0100675 Vaginal pyocele biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100675 UMLS:C4022000 HP:0100676 Vaginal lymphocele biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100676 UMLS:C4021999 HP:0100673 Vaginal hydrocele biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100673 MSH:D006848|SNOMEDCT_US:55434001|UMLS:C1720771|SNOMEDCT_US:386152007|SNOMEDCT_US:26614003 HP:0100674 Vaginal hematocele biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100674 UMLS:C1456401 HP:0100671 Abnormal trabecular bone morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100671 UMLS:C4020957 Abnormality of bone trabeculation|Abnormal shape of spongy bone Abnormal structure or form of trabecular bone. HP:0100672 Vaginal hernia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100672 SNOMEDCT_US:397786004|UMLS:C1442998 The presence of a hernia of the vagina. HP:0100670 Coarse metaphyseal trabecularization biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100670 UMLS:C4020958 Rough trabeculation of bone|Coarse trabeculation at metaphyses|Rough bone trabeculation Coarse appearance of the components of the network of osseous tissue that makes up the cancellous structure of a bone, i.e., thickening of the (usually fine) white lines that are produced by trabeculae in radiograms. HP:0100679 Lack of skin elasticity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100679 UMLS:C4021998|SNOMEDCT_US:297957009|UMLS:C0558242 Tight skin HP:0100689 Decreased corneal thickness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100689 UMLS:C1096274|SNOMEDCT_US:423459005 Thin cornea A decreased anteroposterior thickness of the cornea. HP:0100686 Enthesitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100686 SNOMEDCT_US:359643005|UMLS:C1282952 Inflammation of sharpey fibers HP:0100687 Polyotia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100687 SNOMEDCT_US:35547002|UMLS:C0266611 The presence of an extra auricle on one or both sides of the head. HP:0100684 Salivary gland neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100684 UMLS:C0036095|MSH:D012468|UMLS:C0220636|NCIT:C3262|SNOMEDCT_US:255072001|SNOMEDCT_US:235132004 Cancer of salivary gland|Salivary gland neoplasia|Tumor of salivary gland A tumor (abnormal growth of tissue) of a salivary gland. HP:0100685 Abnormal Sharpey fiber morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100685 UMLS:C4021997|UMLS:C4020701 Enthesis abnormality|Abnormal Sharpey fibre morphology|Abnormality of Sharpey fibers An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone. HP:0100682 Tracheal atresia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100682 SNOMEDCT_US:53189005|UMLS:C0265766 A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking. HP:0100681 Esophageal duplication biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100681 SNOMEDCT_US:66865009|UMLS:C0266135 A developmental disorder in which there is a duplication of a portion of the muscle and submucosa of the esophagus without epithelial duplication. HP:0100699 Scarring biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100699 SNOMEDCT_US:48677004|UMLS:C0008767|MSH:D002921 Scar tissue|Scarring HP:0100697 Neurofibrosarcoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100697 MSH:D018319|NCIT:C3798|SNOMEDCT_US:404037002|SNOMEDCT_US:77418004|UMLS:C0206729|SNOMEDCT_US:19897006|UMLS:C0751690|MSH:D009442 Malignant schwannoma|Malignant peripheral nerve sheath tumor|Neurosarcoma A form of malignant cancer of the connective tissue surrounding nerves. Given its origin and behavior, it is classified as a sarcoma. HP:0100698 Subcutaneous neurofibromas biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100698 SNOMEDCT_US:425327002|UMLS:C1827970 The presence of Neurofibromas in the subcutis. HP:0100695 Lipedema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100695 MSH:D065134|UMLS:C0398370|SNOMEDCT_US:234102003 Excess deposit and expansion of adipose tissue in an unusual pattern which cannot be lost through diet and exercise . HP:0100693 Iridodonesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100693 SNOMEDCT_US:118166004|UMLS:C0423320 Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens. HP:0100694 Tibial torsion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100694 SNOMEDCT_US:249785006|UMLS:C0426900 Tibial torsion is inward twisting (medial rotation) (PATO:0002155) of the tibia. HP:0100691 Abnormality of the curvature of the cornea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100691 UMLS:C4021995 HP:0100692 Increased corneal curvature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100692 UMLS:C4020956 Steep corneal curvature An increase in the degree of curvature of the cornea compared to normal. HP:0100690 Mosaic central corneal dystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100690 UMLS:C4021996 HP:0002135 Basal ganglia calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002135 UMLS:C1389280 Calcification of the basal ganglia|Basal ganglia calcifications|Basal ganglion calcification The presence of calcium deposition affecting one or more structures of the basal ganglia. HP:0004798 Recurrent infection of the gastrointestinal tract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004798 UMLS:C1854495|SNOMEDCT_US:715852004|UMLS:C4082764 Recurrent infection of the gastrointestinal tract|Gastrointestinal infections|Gastrointestinal infections, recurrent|Recurrent gastrointestinal infections|Recurrent infection of the GI tract Recurrent infection of the gastrointestinal tract. HP:0003467 Atlantoaxial instability biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003467 SNOMEDCT_US:202820009|UMLS:C0410653 Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly. HP:0002136 Broad-based gait biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002136 UMLS:C0856863 Wide based walk|Wide-based gait|Broad based gait|Wide based gait An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia. HP:0004797 Multiple small bowel atresias biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004797 UMLS:C1857476 The presence of multiple areas of atresia affecting the small intestine. HP:0003466 Paradoxical increased cortisol secretion on dexamethasone suppression test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003466 UMLS:C1968855 HP:0004796 Gastrointestinal obstruction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004796 UMLS:C0236124|SNOMEDCT_US:126765001 Obstruction in digestive tract|Gastrointestinal obstruction|GI obstruction HP:0002133 Status epilepticus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002133 MSH:D013226|UMLS:C0038220|SNOMEDCT_US:230456007 Repeated seizure without recovery|Prolonged seizure|Repeated seizures without recovery between them Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures. HP:0003465 Elevated 8(9)-cholestenol biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003465 UMLS:C1840014 HP:0002134 Abnormality of the basal ganglia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002134 SNOMEDCT_US:70835005|UMLS:C0004782|MSH:D001480 Basal ganglia disease|Anomaly of the basal ganglia Abnormality of the basal ganglia. HP:0004795 Hamartomatous stomach polyps biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004795 UMLS:C1862304 Polyp-like protrusions which are histologically hamartomas located in the stomach. HP:0003464 obsolete Abnormal cholesterol homeostasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003464 HP:0002139 Arrhinencephaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002139 MSH:D016142|UMLS:C0078982 HP:0003469 Peripheral dysmyelination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003469 UMLS:C4025610 Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination. HP:0003468 Abnormal vertebral morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003468 SNOMEDCT_US:205043005|UMLS:C4020840|Fyler:4108|UMLS:C0158775|SNOMEDCT_US:74877002|UMLS:C4020839 Abnormal vertebral bodies|Vertebral anomalies|Abnormal vertebrae|Multiple vertebral anomalies|Abnormality of the vertebrae An abnormality of one or more of the vertebrae. HP:0002138 Subarachnoid hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002138 UMLS:C0038525|MSH:D013345|SNOMEDCT_US:21454007 Subarachnoid haemorrhage Hemorrhage occurring between the arachnoid mater and the pia mater. HP:0004799 Jejunoileal diverticula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004799 UMLS:C4025290 HP:0004790 Hypoplasia of the small intestine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004790 UMLS:C4025291 Underdeveloped small intestine Underdevelopment of the small intestine. HP:0003463 Increased extraneuronal autofluorescent lipopigment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003463 UMLS:C1859828 Lipopigment in extraneuronal cells Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. HP:0002131 Episodic ataxia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002131 MSH:C580065|SNOMEDCT_US:421455009|UMLS:C1720189 Paroxysmal ataxia|Intermittent cerebellar ataxia Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days. HP:0004794 Malrotation of small bowel biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004794 UMLS:C1860244 Malrotation of the small intestine A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel. HP:0003462 Elevated 8-dehydrocholesterol biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003462 UMLS:C1840013 HP:0002132 Porencephalic cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002132 MSH:D065708|UMLS:C4082173 Cavity within brain A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system. HP:0004792 Rectoperineal fistula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004792 UMLS:C0240880 The presence of a fistula between the perineum and the rectum. HP:0003461 Increased urinary O-linked sialopeptides biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003461 UMLS:C1836533 Excretion of peptides conjugated to sialic acid in the urine. HP:0004791 Esophageal ulceration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004791 UMLS:C0151970|SNOMEDCT_US:30811009 Oesophagus ulceration|Esophagus ulcer Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus. HP:0003460 Decreased circulating total IgA biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003460 UMLS:C4025611 Total immunoglobulin A deficiency|Decreased total IgA in blood Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L). HP:0003477 Peripheral axonal neuropathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003477 UMLS:C0270921|UMLS:C1263857|SNOMEDCT_US:128208007|SNOMEDCT_US:60703000 Axonal peripheral neuropathy|Axonal neuropathy An abnormality characterized by disruption of the normal functioning of peripheral axons. HP:0002144 Tethered cord biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002144 MSH:D009436|UMLS:C0080218|SNOMEDCT_US:70534000 Occult spinal dysraphism During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord. HP:0002145 Frontotemporal dementia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002145 UMLS:C0338451|MSH:D057180|SNOMEDCT_US:230270009 A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders. HP:0002148 Hypophosphatemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002148 MSH:D017674|SNOMEDCT_US:4996001|UMLS:C0085682 Low blood phosphate level|Hypophosphataemia An abnormally decreased phosphate concentration in the blood. HP:0002149 Hyperuricemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002149 MSH:D033461|UMLS:C0740394|SNOMEDCT_US:35885006 High blood uric acid level|Hyperuricaemia An abnormally high level of uric acid in the blood. HP:0003470 Paralysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003470 MSH:D010243|SNOMEDCT_US:44695005|UMLS:C0522224 Paralysis|Inability to move 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. HP:0003474 Sensory impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003474 SNOMEDCT_US:398026008|UMLS:C0020580|SNOMEDCT_US:59073000|MSH:D006987|SNOMEDCT_US:397974008 Hypoaesthesia|Hypoesthesia 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. HP:0002143 Abnormality of the spinal cord biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002143 UMLS:C4025722|SNOMEDCT_US:48522003|UMLS:C0037928|MSH:D013118 Abnormality of the spinal cord|Spinal cord pathology|Spinal cord disease An abnormality of the spinal cord (myelon). HP:0003473 Fatigable weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003473 UMLS:C0947912 Myasthenia|Proximal muscle weakness due to defect at the neuromuscular junction|Fatigable weakness of limb muscles|Myasthenic weakness|Generalized muscle weakness due to defect at the neuromuscular junction 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. HP:0002140 Ischemic stroke biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002140 UMLS:C0948008|SNOMEDCT_US:422504002 Ischaemic stroke Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured. HP:0003472 Hypocalcemic tetany biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003472 SNOMEDCT_US:190869004|UMLS:C0151940 Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms. HP:0002141 Gait imbalance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002141 UMLS:C1836150 Abnormality of balance|Abnormality of equilibrium|Imbalanced walk HP:0100700 Abnormal arachnoid mater morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100700 UMLS:C4020955 Abnormality of the arachnoid mater|Abnormality of the arachnoidea An abnormality of the Arachnoid mater. HP:0002119 Ventriculomegaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002119 UMLS:C3278923 Enlarged ventricular system|Dilated ventricles|Enlarged cerebral ventricles|Enlarged ventricles|Cerebral ventricular dilatation|Dilated cerebral ventricles|Ventricular dilatation|Large cerebral ventricles and cisternae|Dilated cerebral ventricle An increase in size of the ventricular system of the brain. HP:0003445 EMG: neuropathic changes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003445 UMLS:C4021727 EMG: neurogenic changes|EMG: neurogenic findings|EMG: neurogenic abnormalities The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials). HP:0002113 Pulmonary infiltrates biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002113 UMLS:C0235896 Lung infiltrates|Pulmonic infiltration HP:0003444 EMG: chronic denervation signs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003444 UMLS:C4025614 Evidence of chronic denervation on electromyography. HP:0003443 Decreased size of nerve terminals biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003443 UMLS:C4025615 A reduction in the size of nerve terminals. HP:0002111 obsolete Restrictive deficit on pulmonary function testing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002111 HP:0003449 Cold-induced muscle cramps biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003449 UMLS:C1861675 Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures. HP:0004779 Brittle scalp hair biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004779 UMLS:C4025296 Brittle scalp hair Fragile, easily breakable scalp hair. HP:0002118 Abnormality of the cerebral ventricles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002118 UMLS:C4025724 Abnormality of the cerebral ventricles. HP:0003448 Decreased sensory nerve conduction velocity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003448 UMLS:C1849148 Decreased sensory NCV|Decreased sensory nerve conduction velocities Reduced speed of conduction of the action potential along a sensory nerve. HP:0003447 Axonal loss biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003447 UMLS:C1832338 A reduction in the number of axons in the peripheral nervous system. HP:0100709 Reduction of oligodendroglia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100709 UMLS:C4021852 HP:0100707 Abnormal astrocyte morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100707 UMLS:C4021991 Abnormality of the astrocytes An abnormality of astrocytes. HP:0100708 Abnormal microglia morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100708 UMLS:C4021990 Abnormality of the microglia An abnormality of the microglial cells. They are also known as brain-resident macrophages or hortega cells. HP:0100705 Abnormal glial cell morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100705 UMLS:C4021993 Abnormality of the glial cells An abnormality of the glia cell. HP:0100706 Abnormal oligodendroglia morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100706 UMLS:C4021992 Abnormality of the oligodendroglia One of the three types of glia cells that, with the nerve cells, compose the central nervous system and are characterized by sheetlike processes that wrap around individual axons to form the myelin sheath of nerve fibers. HP:0100703 Tongue thrusting biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100703 SNOMEDCT_US:424583005|SNOMEDCT_US:110343009|UMLS:C1829460 Tongue thrusting HP:0100704 Cerebral visual impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100704 SNOMEDCT_US:68574006|UMLS:C0155320|UMLS:C4048268|MSH:D019575|SNOMEDCT_US:413924001 Cortical blindness|Cortical visual impairment|CVI|Cortical/cerebral visual impairment A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye. HP:0002110 Bronchiectasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002110 MSH:D001987|UMLS:C0006267|SNOMEDCT_US:12295008 Permanent enlargement of the airways of the lungs Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. HP:0003440 Horizontal sacrum biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003440 UMLS:C1850558 HP:0004771 Premature graying of body hair biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004771 UMLS:C1849125 Premature graying of body hair|Premature greying of body hair HP:0100701 Abnormal pia mater biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100701 UMLS:C4021994 Abnormality of the pia mater An abnormality of the pia mater. HP:0100702 Arachnoid cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100702 MSH:D016080|SNOMEDCT_US:33595009|UMLS:C0078981 Fluid-filled sac located in membrane surrounding brain or spinal cord|Arachnoid cysts An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid. HP:0100710 Impulsivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100710 UMLS:C0021125|MSH:D007175 Impulsive|Impulsivity Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; difficulty establishing or following plans; a sense of urgency and self-harming behavior under emotional distress. HP:0100711 Abnormal thoracic spine morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100711 UMLS:C4021989 Abnormality of the thoracic spine An abnormality of the thoracic vertebral column. HP:0004787 Fulminant hepatitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004787 UMLS:C0302809|SNOMEDCT_US:427044009 Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice. HP:0003456 Low urinary cyclic AMP response to PTH administration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003456 UMLS:C1864105 HP:0003455 Elevated circulating long chain fatty acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003455 UMLS:C1859241 Elevated long chain fatty acids|Increased serum long-chain fatty acids|Elevated serum long-chain fatty acids Increased concentration of long-chain fatty acids in the blood circulation. HP:0004786 Jejunal diverticula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004786 UMLS:C4025293 HP:0003454 Platelet antibody positive biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003454 UMLS:C1858980 Platelet antibody The presence in the serum of autoantibodies directed against thrombocytes. HP:0004785 Malrotation of colon biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004785 SNOMEDCT_US:6477005|UMLS:C0266196 An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis. HP:0002123 Generalized myoclonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002123 UMLS:C4021759|SNOMEDCT_US:37356005|SNOMEDCT_US:267581004|MSH:D020191|MSH:D004831|UMLS:C0751778|SNOMEDCT_US:192992007|UMLS:C0014550 Myoclonus seizures|Generalized myoclonic seizures|Generalised myoclonic seizures|Myoclonic epilepsy, progressive|Generalised myoclonic seizure|Generalised epileptic myoclonus|Generalized epileptic myoclonus A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. HP:0004784 Juvenile gastrointestinal polyposis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004784 UMLS:C4025294 Juvenile GI polyposis The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps. HP:0003453 Antineutrophil antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003453 UMLS:C1858981 Neutrophil antibody positive|Antineutrophil antibodies The presence of autoantibodies in the serum that react against neutrophils. HP:0003459 Polyclonal elevation of IgM biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003459 UMLS:C4025612 A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis. HP:0003458 EMG: myopathic abnormalities biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003458 UMLS:C4021726 EMG: myopathy|EMG: myopathic changes|Myopathic electromyogram The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials. HP:0002126 Polymicrogyria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002126 UMLS:C0266464|SNOMEDCT_US:4945003|MSH:D065706 More grooves in brain Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds). HP:0004789 Lactose intolerance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004789 UMLS:C0022951|MSH:D007787|SNOMEDCT_US:700094005|SNOMEDCT_US:267425008 Lactose intolerance|Milk intolerance An inability to digest lactose. HP:0003457 EMG abnormality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003457 UMLS:C0476403|SNOMEDCT_US:274523007 Electromyogram abnormal|Abnormal electromyography finding|EMG abnormalities|Abnormal EMG Abnormal results of investigations using electromyography (EMG). HP:0004788 Intestinal lymphedema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004788 UMLS:C4025292 Fluid retention and edema in the intestine caused by a compromised lymphatic system. HP:0002127 Abnormal upper motor neuron morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002127 UMLS:C4025723 Abnormal shape of upper motor neuron Any structural anomaly that affects the upper motor neuron. HP:0100718 Uterine rupture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100718 MSH:D014597|SNOMEDCT_US:34430009|UMLS:C0042143 HP:0100719 Lens coloboma biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0100719 SNOMEDCT_US:204134008|UMLS:C0344516 A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence. HP:0100716 Self-injurious behavior biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100716 MSH:D016728|UMLS:C0085271|SNOMEDCT_US:248062006 Self-harm|Self-injurious behaviour|Autoagression|Self-injurious behavior|Self injury|Self-injurious behaviors Aggression towards oneself. HP:0100717 Abnormality of the cementum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100717 UMLS:C4021987 HP:0004783 Duodenal polyposis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004783 UMLS:C0578477|SNOMEDCT_US:301797007 Multiple duodenal polyps Presence of multiple polyps in the duodenum. HP:0002120 Cerebral cortical atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002120 SNOMEDCT_US:278849000|UMLS:C0235946 Cortical atrophy|Cerebral cortex atrophy|Decrease in size of the outer layer of the brain due to loss of brain cells Atrophy of the cortex of the cerebrum. HP:0003452 Increased serum iron biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003452 SNOMEDCT_US:165624002|UMLS:C0151900 HP:0002121 Generalized non-motor (absence) seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002121 MSH:D004832|SNOMEDCT_US:79631006|SNOMEDCT_US:432241000124101|SNOMEDCT_US:50866000|SNOMEDCT_US:230413002|UMLS:C0014553 Brief seizures with staring spells|Absence seizures|Generalised non-motor (absence) seizure|Petit mal seizures|Generalised non-motor seizure|Petit mal seizure|Absence seizure|Petit mal 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. HP:0003451 Increased rate of premature chromosome condensation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003451 UMLS:C4025613 An increased rate of premature chromosome condensation. HP:0004782 obsolete Hypotrichosis of the scalp biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004782 HP:0100712 Abnormal lumbar spine morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100712 UMLS:C4021988 Abnormality of the lumbar spine Any structural abnormality of the lumbar vertebral column. HP:0003450 Axonal regeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003450 UMLS:C1854454 Regenerative activity on nerve biopsy The presence of axonal regeneration following a previous axonal lesion. HP:0004780 Elbow hypertrichosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004780 UMLS:C4025295 Hypertrichosis cubiti|Pilosity of elbow|Hairy elbow|Hairy elbow syndrome Excessive, increased hair growth located in the elbow region. HP:0100721 Mediastinal lymphadenopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100721 SNOMEDCT_US:52324001|UMLS:C0520743 Swollen lymph nodes in center of chest Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes. HP:0100720 Hypoplasia of the ear cartilage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100720 UMLS:C4021986 Underdeveloped ear cartilage HP:0002179 Opisthotonus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002179 SNOMEDCT_US:8652009|UMLS:C0151818 Opisthotonos HP:0002171 Gliosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002171 SNOMEDCT_US:359580009|MSH:D005911|SNOMEDCT_US:81415000|UMLS:C0017639 Cerebral gliosis|Excess astrocytes in brain Gliosis is the focal proliferation of glial cells in the central nervous system. HP:0100729 Large face biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100729 UMLS:C2748652 Big face|Large face|Large facies HP:0002172 Postural instability biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002172 UMLS:C1843921 Abnormal retropulsion test|Imbalance|Balance impairment A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps. HP:0100727 Histiocytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100727 UMLS:C0019618|SNOMEDCT_US:65396000|MSH:D015614|SNOMEDCT_US:60657004 An excessive number of histiocytes (tissue macrophages). HP:0002170 Intracranial hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002170 MSH:D020300|UMLS:C0151699|SNOMEDCT_US:1386000 Bleeding within the skull|Intracranial haemorrhage Hemorrhage occurring within the skull. HP:0100728 Germ cell neoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100728 UMLS:C4021985|NCIT:C3708 HP:0100725 Lichenification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100725 SNOMEDCT_US:19940005|SNOMEDCT_US:402237006|UMLS:C0023653 Thickening and hardening of the epidermis seen with exaggeration of normal skin lines. HP:0002176 Spinal cord compression biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002176 MSH:D013117|SNOMEDCT_US:71286001|UMLS:C0037926 Pressure on spinal cord External mechanical compression of the spinal cord. HP:0100726 Kaposi's sarcoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100726 SNOMEDCT_US:49937004|UMLS:C0036220|MSH:D012514|SNOMEDCT_US:109385007 A systemic disease which can present with cutaneous lesions with or without internal involvement. Tumors are caused by Human herpesvirus 8 (HHV8), also known as Kaposi's sarcoma-associated herpesvirus (KSHV). HP:0100723 Gastrointestinal stroma tumor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100723 SNOMEDCT_US:128755003|UMLS:C0238198|MSH:D046152|SNOMEDCT_US:420120006 Gastrointestinal stromal tumors|GI stroma tumor|Gastrointestinal stroma tumour|Gastrointestinal stromal tumor|GIST HP:0002173 Hypoglycemic seizures biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002173 UMLS:C0877056 HP:0002174 Postural tremor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002174 SNOMEDCT_US:56610005|UMLS:C0234378|MSH:D014202 Tremor, postural A type of tremors that is triggered by holding a limb in a fixed position. HP:0100724 Hypercoagulability biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100724 UMLS:C0398623|SNOMEDCT_US:234467004|MSH:D019851|SNOMEDCT_US:76612001 Blood hyperviscosity|Thrombophilia An abnormality of coagulation associated with an increased risk of thrombosis. HP:0100732 Pancreatic fibrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100732 SNOMEDCT_US:25942009|UMLS:C0267952 HP:0100733 Neoplasm of the parathyroid gland biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100733 UMLS:C0030521|SNOMEDCT_US:127020005|MSH:D010282|NCIT:C3262 Parathyroid neoplasia A tumor (abnormal growth of tissue) of the parathyroid gland. HP:0100730 Bronchogenic cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100730 SNOMEDCT_US:268194008|SNOMEDCT_US:9550003|UMLS:C0006281|MSH:D001994 A rare congenital cystic lesion of the lungs in the mediastinum. HP:0100731 Transverse facial cleft biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100731 UMLS:C4020954 Lateral facial cleft A horizontal cleft of the face, varying from slight widening of the mouth, to a cleft extending to the ear. HP:0002190 Choroid plexus cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002190 SNOMEDCT_US:230790004|UMLS:C0338597 A cyst occurring within the choroid plexus within a cerebral ventricle. HP:0002188 Delayed CNS myelination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002188 UMLS:C4021758 Delay in central nervous system myelination Delayed myelination in the central nervous system. HP:0002189 obsolete Excessive daytime sleepiness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002189 HP:0002183 Phonophobia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002183 MSH:D012001|SNOMEDCT_US:313387002|UMLS:C0751466 Fear of loud sounds An abnormally heightened sensitivity to loud sounds. HP:0002180 Neurodegeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002180 MSH:D009410|UMLS:C0524851|MSH:D019636|UMLS:C4020854|UMLS:C0027746 Progressive neurodegenerative disorder|Neurodegenerative disease|Ongoing loss of nerve cells|Neuro-degenerative disease Progressive loss of neural cells and tissue. HP:0100738 Abnormal eating behavior biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100738 UMLS:C4021982 Abnormal eating behavior|Abnormal eating behaviour Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption. HP:0002181 Cerebral edema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002181 MSH:D001929|SNOMEDCT_US:2032001|UMLS:C1527311|UMLS:C0006114 Brain oedema|Swelling of brain|Cerebral oedema|Brain edema|Brain swelling Abnormal accumulation of fluid in the brain. HP:0100739 Bulimia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100739 UMLS:C0006370|MSH:D002032|SNOMEDCT_US:78004001 Binge and purge A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these). HP:0100736 Abnormal soft palate morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100736 UMLS:C4021984 Abnormality of the velum palatinum|Abnormality of the velum|Abnormality of the soft palate|Abnormality of the muscular palate An abnormality of the soft palate. HP:0002186 Apraxia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002186 MSH:D001072|UMLS:C0003635|SNOMEDCT_US:68345001|SNOMEDCT_US:6950007 Apraxias A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements. HP:0100737 Abnormal hard palate morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100737 UMLS:C4021983 Abnormality of the hard palate|Abnormality of the secondary palate HP:0002187 Intellectual disability, profound biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002187 UMLS:C0020796|MSH:D008607|SNOMEDCT_US:31216003|UMLS:C3161330 Profound mental retardation|IQ less than 20|Mental retardation, profound Profound mental retardation is defined as an intelligence quotient (IQ) below 20. HP:0100734 Abnormality of vertebral epiphysis morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100734 UMLS:C4020953 Abnormal shape of the end part of the vertebra bone|Abnormality of the vertebral epiphyses An anomaly of one or more epiphyses of one or more vertebrae. HP:0002185 Neurofibrillary tangles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002185 MSH:D016874|SNOMEDCT_US:85775002|UMLS:C0085400 Paired helical filaments|Neurofibrillary tangles composed of disordered microtubules in neurons Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form. HP:0100735 Hypertensive crisis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100735 SNOMEDCT_US:706882009|UMLS:C0020546 HP:0100743 Neoplasm of the rectum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100743 SNOMEDCT_US:126847008|UMLS:C0034885|NCIT:C3262|MSH:D012004 Rectal tumor HP:0100744 Abnormality of the humeroradial joint biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100744 UMLS:C4021981 HP:0100742 Vascular neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100742 MSH:D009383|UMLS:C0282607|NCIT:C3262|SNOMEDCT_US:126736007|UMLS:C0027668|MSH:D019043|SNOMEDCT_US:699605009|SNOMEDCT_US:115235003 Blood vessel tumor A benign or malignant neoplasm (tumour) originating in the vascular system. HP:0002157 Azotemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002157 UMLS:C0242528|SNOMEDCT_US:445009001|MSH:D053099 Azotaemia An increased concentration of nitrogen compounds in the blood. HP:0003489 Acute episodes of neuropathic symptoms biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003489 UMLS:C1867971 HP:0002155 Hypertriglyceridemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002155 UMLS:C1522137 Increased serum triglycerides|Increased circulating Tg levels|Increased triglycerides|Increased plasma triglycerides|Increased plasma Tg levels An abnormal increase in the level of triglycerides in the blood. HP:0003487 Babinski sign biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003487 UMLS:C0034935|SNOMEDCT_US:366575004|SNOMEDCT_US:246586009 Extensor plantar responses|Extensor plantar reflexes|Extensor plantar response|Positive Babinski sign Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract. HP:0002156 Homocystinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002156 SNOMEDCT_US:11282001|MSH:D006712|UMLS:C0019880 High urine homocystine levels An increased concentration of homocystine in the urine. HP:0002159 Heparan sulfate excretion in urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002159 UMLS:C1854827 Heparan sulphate excretion in urine An increased concentration of heparan sulfates in the urine. HP:0003481 Segmental peripheral demyelination/remyelination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003481 UMLS:C1843077 Segmental demyelination/remyelination A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves. HP:0002150 Hypercalciuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002150 UMLS:C0020438|SNOMEDCT_US:71938000|MSH:D053565 Elevated urine calcium levels|Hypercalcinuria HP:0100749 Chest pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100749 SNOMEDCT_US:29857009|MSH:D002637|UMLS:C0008031 Thoracic pain|Chest pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. HP:0002153 Hyperkalemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002153 MSH:D006947|SNOMEDCT_US:238142003|UMLS:C0020461|SNOMEDCT_US:14140009|SNOMEDCT_US:166689004 Elevated serum potassium levels An abnormally increased potassium concentration in the blood. HP:0100747 Macrodactyly of toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100747 MSH:C537719|UMLS:C2931596 Foot macrodactyly A type of Macrodactyly affecting one or several toes. HP:0100748 Muscular edema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100748 UMLS:C4021979 Muscular oedema HP:0002154 Hyperglycinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002154 SNOMEDCT_US:64654004|UMLS:C0268559 Elevated blood glycine levels|Hyperglycinaemia An elevated concentration of glycine in the blood. HP:0003484 Upper limb muscle weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003484 UMLS:C1698196|SNOMEDCT_US:713512009 Weak arm|Decreased arm strength Weakness of the muscles of the arms. HP:0100745 Abnormality of the humeroulnar joint biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100745 UMLS:C4021980 An anomaly of the joint between the trochlear notch of ulna and the trochlea of humerus, which is part of the elbow joint. HP:0002151 Increased serum lactate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002151 UMLS:C1836440 Higher than normal levels of lactate in blood|Increased blood lactate Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35). HP:0100746 Macrodactyly of finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100746 UMLS:C0574044|SNOMEDCT_US:297195000|MSH:C537720 Macrodactyly of hands A type of Macrodactyly affecting one or several fingers. HP:0002152 Hyperproteinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002152 UMLS:C0267988|SNOMEDCT_US:37064009 An increased concentration of proteins in the blood. HP:0003482 EMG: axonal abnormality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003482 UMLS:C4025609 Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials. HP:0100754 Mania biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100754 SNOMEDCT_US:231494001|UMLS:C0338831|MSH:D001714 Manic A state of abnormally elevated or irritable mood, arousal, and or energy levels. HP:0100755 Abnormality of salivation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100755 UMLS:C4021978 Abnormality of salivation|Abnormal spit HP:0100752 Abnormal liver lobulation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100752 SNOMEDCT_US:253811003|UMLS:C0345286 Hepatic anomalous lobulation|Anomalous liver lobulation Formation of abnormal lobules (small masses of tissue) in the liver. HP:0100753 Schizophrenia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100753 SNOMEDCT_US:191526005|UMLS:C0036341|MSH:D012559|SNOMEDCT_US:58214004 A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7%. HP:0100750 Atelectasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100750 SNOMEDCT_US:46621007|UMLS:C0004144|MSH:D001261 Pulmonary atelectasis|Partial or complete collapse of part or entire lung Collapse of part of a lung associated with absence of inflation (air) of that part. HP:0100751 Esophageal neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100751 MSH:D004938|UMLS:C0014859|NCIT:C3262|SNOMEDCT_US:126817006 Esophageal tumor A tumor (abnormal growth of tissue) of the esophagus. HP:0002168 Scanning speech biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002168 UMLS:C0278184|SNOMEDCT_US:77420001|UMLS:C0522198|SNOMEDCT_US:102935005 Explosive speech HP:0002169 Clonus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002169 UMLS:C0009024|SNOMEDCT_US:36649002 Involuntary rhythmic muscular contractions and relaxations 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. HP:0002166 Impaired vibration sensation in the lower limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002166 UMLS:C1849134 Decreased lower limb vibratory sense|Distal vibratory impairment of the lower limbs|Diminished vibratory sensation in the legs|Distal sensory loss, especially vibratory sense|Decreased vibratory sense in the lower limbs|Impaired vibration sensation in the lower limbs|Decreased vibratory sense in lower limbs|Decreased vibratory sense in the lower extremities A decrease in the ability to perceive vibration in the legs. HP:0003498 Disproportionate short stature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003498 UMLS:C0878659|UMLS:C1846797 Short stature, disproportionate|Short stature, severe disproportionate A kind of short stature in which different regions of the body are shortened to differing extents. HP:0002167 Neurological speech impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002167 MSH:D013064|UMLS:C0037822 Speech impediment|Speech impairment|Speech disorder HP:0002160 Hyperhomocystinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002160 UMLS:C3806347 Homocystinemia|Elevated blood homocystine An increased concentration of homocystine in the blood. HP:0003492 High urinary gonadotropin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003492 UMLS:C4025606 An elevated concentration of a gonadotropin hormone (stimulating hormone or luteinizing hormone) in the urine, consistent with the diagnosis of primary hypogonadism. HP:0002161 Hyperlysinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002161 UMLS:C0268553|MSH:D020167|SNOMEDCT_US:58558003 Elevated blood lysine An increased concentration of lysine in the blood. HP:0003491 Elevated urine pyrophosphate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003491 UMLS:C4025607 An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate. HP:0003490 obsolete Defective dehydrogenation of isovaleryl CoA and butyryl CoA biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003490 HP:0002164 Nail dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002164 UMLS:C1834405 Atypical nail growth|Onychodysplasia|Dysplastic nails The presence of developmental dysplasia of the nail. HP:0003496 Increased circulating IgM level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003496 UMLS:C1839972 Increased IgM levels|Increased levels of IgM An abnormally increased level of immunoglobulin M in blood. HP:0100758 Gangrene biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100758 SNOMEDCT_US:372070002|UMLS:C0017086|SNOMEDCT_US:36024000|MSH:D005734 Death of body tissue due to lack of blood flow or infection A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis). HP:0003495 GM2-ganglioside accumulation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003495 UMLS:C1848920 Cellular accumulation of GM2 gangliosides. HP:0100759 Clubbing of fingers biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0100759 SNOMEDCT_US:30760008|MSH:D010005|MEDDRA:10016680|UMLS:C0009080 Clubbed fingers|Finger clubbing|Clubbing of fingers|Clubbing (hands) Terminal broadening of the fingers (distal phalanges of the fingers). HP:0002165 Pterygium of nails biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002165 SNOMEDCT_US:110987009|UMLS:C0406438 Nail pterygium Inward advance of skin over the nail plate. HP:0002162 Low posterior hairline biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002162 UMLS:C1855728 Low posterior hair line|Low hairline at back of neck Hair on the neck extends more inferiorly than usual. HP:0003494 obsolete Loss of heterozygosity, multiple chromosomes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003494 HP:0100757 Pancreatoblastoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100757 UMLS:C0334489|SNOMEDCT_US:53618008|MSH:C537162 A rare pediatric carcinoma of the pancreas. HP:0003493 Antinuclear antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003493 UMLS:C0151480|SNOMEDCT_US:165850001 Antinuclear antibody positive|Serum antinuclear antibody|Antinuclear antibodies|Elevated antinuclear antibody The presence of autoantibodies in the serum that react against nuclei or nuclear components. HP:0004717 Axial malrotation of the kidney biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004717 UMLS:C4025300 An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney. HP:0004719 Hyperechogenic kidneys biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004719 UMLS:C3275899 Increased echogenicity of the renal parenchyma|Echogenic kidneys An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal. HP:0004713 Reversible renal failure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004713 UMLS:C1843276 Reversible kidney failure|Reversible renal failure Acute renal failure with resolution of manifestations. HP:0004712 Renal malrotation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004712 SNOMEDCT_US:49008000|UMLS:C0238210 Abnormal rotation of the kidneys|Malrotation of the kidney An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney. HP:0004729 Acute tubulointerstitial nephritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004729 MSH:C564356|UMLS:C1843274 Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. HP:0004727 Impaired renal concentrating ability biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004727 UMLS:C1859819 Urine concentration defect|Urine concentrating defect A defect in the ability to concentrate the urine. HP:0004724 Calcium nephrolithiasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004724 UMLS:C1855801 Ca2+ nephrolithiasis|Ca kidney stone|Ca2+ kidney stone|Ca nephrolithiasis|Calcium kidney stone The presence of calcium-containing calculi (stones) in the kidneys. HP:0004722 Thickened glomerular basement membrane biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004722 UMLS:C0445347|SNOMEDCT_US:264932002 Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney. HP:0004704 Short fifth metatarsal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004704 UMLS:C4021649 Hypoplasia of the fifth metatarsal bone|Short 5th long bone of foot Short (hypoplastic) fifth metatarsal bone. HP:0003429 CNS hypomyelination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003429 UMLS:C0544820|UMLS:C4025616|SNOMEDCT_US:111007000 hypomyelination Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis. HP:0004759 obsolete Nodular calcific aortic valve disease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004759 HP:0003423 Thoracolumbar kyphoscoliosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003423 UMLS:C1859335 Dorsolumbar kyphosis HP:0004754 Permanent atrial fibrillation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004754 UMLS:C2586056|UMLS:C0694539|SNOMEDCT_US:426749004|SNOMEDCT_US:440028005 Chronic atrial fibrillation AF that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent. HP:0003422 Vertebral segmentation defect biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003422 UMLS:C0432163|SNOMEDCT_US:205455005 Abnormal spinal segmentation An abnormality related to a defect of vertebral separation during development. HP:0004752 Congenital atrioventricular dissociation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004752 UMLS:C4025299 A form of atrioventricular (AV) dissociation (i.e., the atria and the ventricles are under the control of two separate pacemakers) with congenital onset. HP:0003421 obsolete Platyspondyly (childhood) biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003421 HP:0004751 Paroxysmal ventricular tachycardia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004751 SNOMEDCT_US:66657009|UMLS:C0030591 Episodes of ventricular tachycardia Episodes of ventricular tachycardia that have a sudden onset and ending. HP:0004758 Effort-induced polymorphic ventricular tachycardia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004758 UMLS:C4025298 Exercise-induced polymorphic ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration. HP:0003427 Thenar muscle weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003427 UMLS:C1832276 HP:0004757 Paroxysmal atrial fibrillation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004757 SNOMEDCT_US:282825002|UMLS:C0235480|MSH:D001281 Atrial fibrillation, paroxysmal Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously. HP:0003426 First dorsal interossei muscle atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003426 UMLS:C1832278 HP:0004756 Ventricular tachycardia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004756 SNOMEDCT_US:25569003|Fyler:7160|MSH:D017180|UMLS:C0042514 A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms). HP:0004755 Supraventricular tachycardia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004755 UMLS:C1698480|UMLS:C0039240|SNOMEDCT_US:6456007|MSH:D013617 Supraventricular tachyarrhythmia|SVT Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles. HP:0002108 Spontaneous pneumothorax biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002108 UMLS:C0149781|MSH:D011030|SNOMEDCT_US:80423007 Spontaneous collapsed lung Pneumothorax occurring without traumatic injury to the chest or lung. HP:0002109 obsolete Abnormality of the bronchi biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002109 HP:0002102 Pleuritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002102 MSH:D010998|UMLS:C0032231|SNOMEDCT_US:196075003 Pleurisy|Inflammation of tissues lining lungs and chest Inflammation of the pleura. HP:0003434 Sensory ataxic neuropathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003434 UMLS:C1843859 HP:0002103 Abnormal pleura morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002103 UMLS:C4025726 Abnormality of the pleura An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls. HP:0004764 Myxomatous mitral valve degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004764 SNOMEDCT_US:253395003|UMLS:C0264885|SNOMEDCT_US:42069006 Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view. HP:0002100 Recurrent aspiration pneumonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002100 UMLS:C0747651|SNOMEDCT_US:430969000 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. HP:0004763 Paroxysmal supraventricular tachycardia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004763 UMLS:C4280507|SNOMEDCT_US:67198005|UMLS:C0030590 Episodic supraventricular tachycardia|Episodic rapid heart beat An episodic form of supraventricular tachycardia with abrupt onset and termination. HP:0003431 Decreased motor nerve conduction velocity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003431 UMLS:C1858729 Reduced motor nerve conduction velocity|Decreased motor NCV|Decreased motor nerve conduction velocities A type of decreased nerve conduction velocity that affects the motor neuron. HP:0004762 Hypoplasia of right ventricle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004762 Fyler:1821|UMLS:C4082954 Small right heart chamber|Underdeveloped right heart chamber|Heart right ventricle hypoplasia Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells. HP:0002101 Abnormal lung lobation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002101 UMLS:C0685695|SNOMEDCT_US:91842005 Defective lung lobation|Lung segmentation defects A developmental defect in the formation of pulmonary lobes. HP:0003438 Absent Achilles reflex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003438 UMLS:C0558845|MSH:D012021|SNOMEDCT_US:274818004 Absent ankle reflexes Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed. HP:0002107 Pneumothorax biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002107 MSH:D011030|SNOMEDCT_US:36118008|UMLS:C0032326 Collapsed lung Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung. HP:0004768 Sparse anterior scalp hair biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004768 UMLS:C1866246 Thin scalp hair at front of head|Sparse scalp hair at front of head Decreased number of head hairs per unit area on the anterior region of the scalp. HP:0002104 Apnea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002104 SNOMEDCT_US:248583008|MSH:D001049|UMLS:C0003578|SNOMEDCT_US:1023001 Apnoea|Apneic episodes|Absence of spontaneous respiration 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. HP:0003436 Prolonged miniature endplate currents biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003436 UMLS:C1864238 Prolonged miniature endplate potentials|Prolonged MEPP|Prolonged MEPC An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction. HP:0002105 Hemoptysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002105 MSH:D006469|SNOMEDCT_US:6686005|SNOMEDCT_US:66857006|UMLS:C0019079 Coughing up blood or blood-stained mucus|Haemoptysis|Coughing up blood Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs. HP:0003435 Cold-induced hand cramps biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003435 UMLS:C1832279 HP:0004761 Post-angioplasty coronary artery restenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004761 UMLS:C2676505 HP:0004760 obsolete Congenital septal defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004760 HP:0003409 Distal sensory impairment of all modalities biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003409 UMLS:C1836527 Distal sensory loss to all modalities HP:0004737 Global glomerulosclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004737 UMLS:C1865276 Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50%. HP:0003406 Peripheral nerve compression biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003406 UMLS:C1851414 HP:0003401 Paresthesia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003401 MSH:D010292|UMLS:C0030554|SNOMEDCT_US:91019004 Pins and needles feeling|Tingling|Paresthesias Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. HP:0004732 Impaired renal uric acid clearance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004732 UMLS:C1969371 A reduction in the ability of the kidneys to remove uric acid from the serum. HP:0003400 Basal lamina onion bulb formation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003400 UMLS:C1866637 Basal lamina 'onion bulb' formations on nerve biopsy A type of onion bulb formation prominently affecting the area of the basal lamina. HP:0003405 Diffuse axonal swelling biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003405 UMLS:C1865417 HP:0004736 Crossed fused renal ectopia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004736 UMLS:C1835796 Ectopic kidney with fusion A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys. HP:0003403 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003403 UMLS:C4020841|UMLS:C4021728 EMG: decrement at repetitive stimulation|EMG: decremental response of CMAP to repetitive nerve stimulation A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation. HP:0004734 Renal cortical microcysts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004734 UMLS:C1865877 Cortical microcysts|Multiple renal cortical microcysts|Multiple small renal cortical cysts Cysts of microscopic size confined to the cortex of the kidney. HP:0003402 Decreased miniature endplate potentials biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003402 UMLS:C1853952 Small miniature endplate currents|Small miniature endplate potentials|Decreased MEPP An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction. HP:0003419 Low back pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003419 MSH:D017116|UMLS:C0024031|SNOMEDCT_US:279039007 Lower back pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back. HP:0004749 Atrial flutter biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004749 UMLS:C0004239|SNOMEDCT_US:5370000|MSH:D001282 A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit. HP:0003418 Back pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003418 MSH:D001416|SNOMEDCT_US:161891005|UMLS:C0004604 Back pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. HP:0003417 Coronal cleft vertebrae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003417 UMLS:C1834954 Coronal vertebral clefts|Vertebral coronal clefts|coronal cleft of vertebrae|Coronal clefts Frontal schisis (cleft or cleavage) of vertebral bodies. HP:0004743 Chronic tubulointerstitial nephritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004743 SNOMEDCT_US:60926001|UMLS:C0238304 Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. HP:0004742 Abnormal renal collecting system morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004742 UMLS:C1851303 Abnormal collecting system|Abnormality of the renal collecting system|Renal collecting system anomalies An abnormality of the renal collecting system. HP:0003411 Proximal femoral metaphyseal irregularity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003411 UMLS:C1836320 Irregular proximal femoral metaphyses Irregularity of the normally smooth surface of the proximal metaphysis of the femur. HP:0003416 Spinal canal stenosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0003416 UMLS:C1861329 Spinal stenosis|Narrow spinal canal An abnormal narrowing of the spinal canal. HP:0004746 Glomerular subendothelial electron-dense deposits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004746 MSH:D015432|UMLS:C0268743|SNOMEDCT_US:59479006 Dense deposit disease|Membranoproliferative glomerulonephritis type II Electron dense deposits at the glomerular basement membrane, HP:0003414 Atlantoaxial dislocation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003414 UMLS:C0263905|SNOMEDCT_US:263042007|SNOMEDCT_US:45179004 Atlanto-axial subluxation|Atlantoaxial subluxation Partial dislocation of the atlantoaxial joint. HP:0003413 Atlantoaxial abnormality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003413 UMLS:C4025617 An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae. HP:0004916 Generalized distal tubular acidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004916 UMLS:C4025275 Generalised distal tubular acidosis HP:0004915 Impairment of galactose metabolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004915 UMLS:C4021643 Impaired galactose metabolism An impairment of galactose metabolism. HP:0004914 Recurrent infantile hypoglycemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004914 UMLS:C4021644 Episodic infantile hypoglycemia|Recurrent low blood sugar in infant Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period. HP:0004913 Intermittent lactic acidemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004913 UMLS:C1844917 An intermittent (discontinuous) form of lactic acidemia. HP:0004919 Galactose intolerance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004919 SNOMEDCT_US:190745006|MSH:D005693|SNOMEDCT_US:190749000|UMLS:C0016952 HP:0004918 Hyperchloremic metabolic acidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004918 UMLS:C1969073 Non-gap acidosis A form of metabolic acidosis with increased serum chloride levels. HP:0004912 Hypophosphatemic rickets biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004912 UMLS:C1704375|SNOMEDCT_US:66266003|MSH:D063730 HP:0004911 Episodic metabolic acidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004911 UMLS:C1859516 Recurrent episodes of acidosis Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids. HP:0004910 Bicarbonate-wasting renal tubular acidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004910 UMLS:C1858626 HCO3-wasting renal tubular acidosis|Renal bicarbonate wasting HP:0004927 Pulmonary artery dilatation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004927 SNOMEDCT_US:251047005|UMLS:C0428851 An abnormal widening of the diameter of the pulmonary artery. HP:0004926 Orthostatic hypotension due to autonomic dysfunction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004926 UMLS:C1868528 HP:0004925 Chronic lactic acidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004925 UMLS:C1839437 A chronic form of lactic acidemia. HP:0004924 Abnormal oral glucose tolerance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004924 UMLS:C1847425 Abnormal glucose oral tolerance test An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose. HP:0004929 obsolete Coronary atherosclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004929 HP:0004928 obsolete Peripheral arterial stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004928 HP:0004923 Hyperphenylalaninemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004923 UMLS:C0751435|MSH:D010661|SNOMEDCT_US:68528007 An increased concentration of L-phenylalanine in the blood. HP:0004922 Atypical hyperphenylalaninemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004922 UMLS:C4025273 HP:0004921 Abnormal magnesium concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004921 UMLS:C4020826|UMLS:C4025274 Abnormality of magnesium homeostasis|Abnormal magnesium metabolism|Abnormal Mg concentration An abnormality of magnesium ion homeostasis. HP:0004920 Phenylpyruvic acidemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004920 UMLS:C1849926 HP:0004905 Low levels of vitamin A biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004905 UMLS:C0042842|MSH:D014802|SNOMEDCT_US:72000004 Vitamin A deficiency A reduced concentration of vitamin A. HP:0004904 Maturity-onset diabetes of the young biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004904 SNOMEDCT_US:609561005|UMLS:C0342276|MSH:C562772 Maturity onset diabetes of the young|MODY 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. HP:0004902 Congenital lactic acidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004902 UMLS:C4025276 A form of lactic acidemia with congenital onset. HP:0004909 Hypokalemic hypochloremic metabolic alkalosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004909 UMLS:C0740896 HP:0004906 Hypernatremic dehydration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004906 UMLS:C1850544|SNOMEDCT_US:427784006 HP:0004901 Exercise-induced lactic acidemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004901 UMLS:C4025277 Exercise-induced lactic acidosis A form of lactic acidemia that occurs following exercise or exertion. HP:0004900 Severe lactic acidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004900 UMLS:C1839436 A severe form of lactic acidemia. HP:0100523 Liver abscess biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100523 SNOMEDCT_US:27916005|MSH:D008100|UMLS:C0023885 Liver abscess|Hepatic abscess The presence of an abscess of the liver. HP:0100524 Limb duplication biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0100524 UMLS:C0265551|SNOMEDCT_US:34488005 Dimelia|Limb duplication Congenital duplication of all or part of a limb. HP:0100521 Neoplasm of the thymus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100521 MSH:D013953|SNOMEDCT_US:127231009|NCIT:C3262|UMLS:C3714644 A tumor (abnormal growth of tissue) of the thymus. HP:0100522 Thymoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100522 SNOMEDCT_US:444231005|NCIT:C3411|UMLS:C0040100|SNOMEDCT_US:128856005|MSH:D013945 A tumor originating from the epithelial cells of the thymus. HP:0100520 Oliguria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100520 UMLS:C0028961|MSH:D009846|SNOMEDCT_US:718403007|SNOMEDCT_US:83128009 Low output of urine, clinically classified as an output below 300-500ml/day. HP:0100529 Abnormal blood phosphate concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100529 UMLS:C4022032 Abnormality of phosphate homeostasis An abnormality of phosphate homeostasis or concentration in the body. HP:0100527 Neoplasia of the pleura biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100527 NCIT:C3262|UMLS:C4022033 HP:0100528 Pleuropulmonary blastoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100528 NCIT:C3732|MSH:C537516|UMLS:C1266144|SNOMEDCT_US:128763002|SNOMEDCT_US:707670009 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. HP:0100525 Urachus fistula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100525 SNOMEDCT_US:398320008|UMLS:C0345344|SNOMEDCT_US:50986000 Persistence of the urachal canal with drainage of urine from the bladder through the persistent allantois canal to the umbilicus. HP:0100526 Neoplasm of the lung biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100526 SNOMEDCT_US:126713003|NCIT:C3262|MSH:D008175|UMLS:C0024121 Lung cancer|Lung tumor Tumor of the lung. HP:0100534 Episcleritis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0100534 SNOMEDCT_US:815008|MSH:D015423|UMLS:C0014583 Inflammation of the thin layer on top of the white part of eye Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye. HP:0100535 Tibiofibular diastasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100535 UMLS:C4022029 HP:0100532 Scleritis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0100532 SNOMEDCT_US:78370002|MSH:D015423|UMLS:C0036416 Inflammation of the outer white part of the eye Inflammation of the sclera. HP:0100533 Inflammatory abnormality of the eye biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100533 UMLS:C4020969 Ocular inflammation|Inflammatory abnormality of the eye Inflammation of the eye, parts of the eye or the periorbital region. HP:0100530 Abnormal calcium-phosphate regulating hormone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100530 UMLS:C4022031 Abnormal Ca-PHOS regulating hormone level|Abnormal Ca2+ PO4 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. HP:0100531 Wind-swept deformity of the knees biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100531 UMLS:C4022030 Wind-swept deformity of the knees The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other. HP:0100538 Abnormality of the supraorbital ridges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100538 UMLS:C4022027 Malformation of the supraorbital margins|Deformity of the supraorbital margins|Abnormality of the brow of the face|Malformation of the supraorbital ridges|Deformity of the supraorbital ridges An anomaly of the supraorbital portion of the frontal bones. HP:0100539 Periorbital edema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100539 SNOMEDCT_US:267041004|SNOMEDCT_US:109245003|UMLS:C0149754|UMLS:C0151205|UMLS:C0424810|SNOMEDCT_US:49563000 Periorbital oedema|Periorbital cellulitis Edema affecting the region situated around the orbit of the eye. HP:0100536 Abnormality of the fascia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100536 UMLS:C4022028 An abnormality of fascia. HP:0100537 Fasciitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100537 SNOMEDCT_US:36948007|UMLS:C0015645|MSH:D005208 Inflammation of the fascia Inflammation of fascia, the tissue under the skin and over the muscle. HP:0100545 Arterial stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100545 UMLS:C0038449|SNOMEDCT_US:68109007 Narrowing of an artery Narrowing or constriction of the inner surface (lumen) of an artery. HP:0100546 Carotid artery stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100546 MSH:D016893|UMLS:C0007282|SNOMEDCT_US:64586002 Narrowing of carotid artery|Carotid stenosis Narrowing of the carotid arteries. HP:0100543 Cognitive impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100543 SNOMEDCT_US:386806002|UMLS:C0338656|UMLS:C0683322|MSH:D060825 Cognitive impairment|Intellectual impairment|Cognitive defects|Cognitive abnormality|Abnormality of cognition|Mental impairment|Cognitive deficits Abnormality in the process of thought including the ability to process information. HP:0100544 Neoplasm of the heart biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100544 NCIT:C3262|SNOMEDCT_US:387842002|MSH:D006338|UMLS:C0018809 Cardiac neoplasm|Cardiac neoplasia|Heart tumor A tumor (abnormal growth of tissue) of the heart. HP:0100541 Femoral hernia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0100541 UMLS:C0019288|MSH:D006550|MEDDRA:10016434|SNOMEDCT_US:50063009 Crural hernia A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal. HP:0100542 Abnormal localization of kidney biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100542 UMLS:C4020968 Abnormal localisation of kidneys An abnormal site of the kidney. HP:0100540 Palpebral edema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100540 UMLS:C0162285|SNOMEDCT_US:89091004 Edema of the eyelids|Puffy eyelids|Swelling of eyelids|Puffy lids|Fullness of eyelids|Eyelid edema|Palpebral oedema Edema in the region of the eyelids. HP:0100547 Abnormality of forebrain morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100547 UMLS:C4020967 Abnormal shape of forebrain|Abnormality of the forebrain An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. HP:0100548 Exstrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100548 SNOMEDCT_US:110407002|UMLS:C0015338 Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall. HP:0100556 Hemiatrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100556 UMLS:C0333662|SNOMEDCT_US:34087007 Asymmetric limb shortening|Hemiatrophy of the body Undergrowth of the limbs that affects only one side. HP:0100557 Hemiatrophy of lower limb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100557 SNOMEDCT_US:709411004|UMLS:C0431934 Asymmetric lower limb shortening Unilateral atrophy (reduction in size) of a leg. HP:0100554 Hemihypertrophy of upper limb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100554 SNOMEDCT_US:253920006|UMLS:C0431810 Overgrowth of one arm Overgrowth of only one arm. HP:0100555 Asymmetric growth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100555 UMLS:C4022025 Uneven or disproportionate growth of one body part compared to another A growth pattern that displays an abnormal difference between the left and the right side. HP:0100552 Neoplasm of the tracheobronchial system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100552 UMLS:C4022026|NCIT:C3262 HP:0100553 Hemihypertrophy of lower limb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100553 UMLS:C0431928|SNOMEDCT_US:205369009 Overgrowth of one leg Overgrowth of only one leg. HP:0100550 Tendon rupture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100550 UMLS:C0151937|SNOMEDCT_US:415749005 Tendon rupture|Rupture of tendons|Ruptured tendon|Tendon/muscle rupture Breakage (tear) of a tendon. HP:0100551 Neoplasm of the trachea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100551 NCIT:C3262|UMLS:C0040582|MSH:D014134|SNOMEDCT_US:126703006 Tracheal neoplasm A neoplasm of the trachea. HP:0100558 Hemiatrophy of upper limb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100558 SNOMEDCT_US:253921005|UMLS:C0431814 Asymmetric upper limb shortening|Hemihypotrophy of upper limb Unilateral atrophy (reduction in size) of an arm. HP:0100559 Lower limb asymmetry biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100559 UMLS:C0023221|SNOMEDCT_US:45939007|MSH:D007870 Left and right leg differ in length or width|Leg length discrepancy A difference in length or diameter between the left and right leg. HP:0100568 Neoplasm of the endocrine system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100568 SNOMEDCT_US:387922007|UMLS:C0014132|NCIT:C3262|MSH:D004701|SNOMEDCT_US:387927001 Endocrine neoplasia A tumor (abnormal growth of tissue) of the endocrine system. HP:0100565 Hydromyelia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100565 SNOMEDCT_US:11197005|SNOMEDCT_US:74740003|UMLS:C0152444 Dilation of central canal from incomplete fusion of the posterior columns or persistence of the primitive large canal of the embryo. HP:0100566 Amyelia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100566 SNOMEDCT_US:78784005|UMLS:C0266510 Absent spinal cord Congenital absence of the spinal cord. HP:0100563 Diastomatomyelia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100563 UMLS:C4022023 Coexistence of two hemicords, at variable levels, causing splaying of the posterior vertebral elements. Results in neurological deficits in lower limb or perineum. HP:0100564 Triplomyelia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100564 UMLS:C4022022 Triplication of spinal cord Triplication of the spinal cord - extremely rare. HP:0100561 Spinal cord lesion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100561 UMLS:C0241224 HP:0100562 Diplomyelia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100562 UMLS:C1260890|SNOMEDCT_US:360527003 Duplication of spinal cord Duplication of the spinal cord. HP:0100560 Upper limb asymmetry biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0100560 UMLS:C4022024 Unequal size of arms Difference in length or size between the right and left arm. HP:0100569 Abnormally ossified vertebrae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100569 UMLS:C4020966 Abnormal bone maturation of vertebra|Abnormal vertebral ossification|Abnormality of ossification/mineralisation of vertebrae An abnormality of the formation and mineralization of one or more vertebrae. HP:0100578 Lipoatrophy biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0100578 UMLS:C1280433|MEDDRA:10024604|SNOMEDCT_US:248315005 Atrophy of fat|Loss of fat tissue in localized area Localized loss of fat tissue. HP:0100579 Mucosal telangiectasiae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100579 UMLS:C4022020 Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs. HP:0100576 Amaurosis fugax biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0100576 MSH:D020757|UMLS:C0149793|SNOMEDCT_US:88032003 A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition. HP:0100577 Urinary bladder inflammation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100577 MSH:D003556|SNOMEDCT_US:38822007|UMLS:C0010692 Urinary bladder inflammation|Cystitis of the urinary bladder Inflammation of the urinary bladder. HP:0100574 Biliary tract neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100574 UMLS:C4020709|SNOMEDCT_US:126853008|MSH:D001661|NCIT:C3262|UMLS:C0005426 Neoplasia of the biliary tract A tumor (abnormal growth of tissue) of the biliary system. HP:0100575 Neoplasm of the gallbladder biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100575 SNOMEDCT_US:126854002|UMLS:C4020708|UMLS:C0016978|NCIT:C3262|MSH:D005706 Neoplasia of the gallbladder The presence of a neoplasm of the gallbladder. HP:0100572 Fibrous cardiac diverticulum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100572 UMLS:C4020964 Congenital ventricular aneurysm A fibrous cardiac diverticulum refers to an aneurysm and usually appears as an isolated congenital anomaly. HP:0100573 Muscular cardiac diverticulum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100573 UMLS:C4022021 HP:0100570 Carcinoid tumor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100570 SNOMEDCT_US:443492008|MSH:D002276|SNOMEDCT_US:189607006|UMLS:C0007095 Carcinoid|Carcinoid tumors|Carcinoid tumour A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin. HP:0100571 Cardiac diverticulum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100571 UMLS:C4020965 Ventricular diverticulum A cardiac diverticulum is a rare congenital malformation which is either fibrous or muscular. HP:0100589 Urogenital fistula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100589 UMLS:C0853877 The presence of a fistula affecting the genitourinary system. HP:0100587 Abnormality of the preputium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100587 UMLS:C4022016 HP:0100588 Paraphimosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100588 SNOMEDCT_US:13758004|UMLS:C0030483|MSH:D010263 The foreskin becomes trapped behind the glans penis, and cannot be pulled back to its normal flaccid position covering the glans penis. HP:0100585 Telangiectasia of the skin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100585 UMLS:C4022018 Teleangiectasia of the skin Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions. HP:0100586 Sterile pyuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100586 UMLS:C4022017 Aseptic leukocyturia Patients who routinely have greater than 20 leukocytes per microliter, but have abacterial urine, are said to have sterile pyuria. HP:0100583 Corneal perforation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100583 MSH:D057112|UMLS:C0339293|SNOMEDCT_US:74895004|UMLS:C0948060 Iridocele A rupture of the cornea through which a portion of the iris protrudes. HP:0100584 Endocarditis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100584 SNOMEDCT_US:56819008|MSH:D004696|UMLS:C0014118 An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves. HP:0100581 Dilatation of renal calices biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100581 UMLS:C4022019 Megacalicosis|Caliceal dilatation|Caliectasis An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine. HP:0100582 Nasal polyposis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100582 MSH:D009298|UMLS:C0027430|SNOMEDCT_US:52756005 Polys of nose|Nasal polyps|Polyposis nasi Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis. HP:0100580 Barrett esophagus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100580 MSH:D001471|SNOMEDCT_US:302914006|UMLS:C0004763 Barrett's esophagus|Barret syndrome|Endobrachyesophagus|Barrett oesophagus An abnormal change (metaplasia) in the cells of the inferior portion of the esophagus. The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. Columnar epithelium refers to a cell type that is typically found in more distal parts of the gastrointestinal system. HP:0100598 Pulmonary edema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100598 UMLS:C0034063|SNOMEDCT_US:19242006|MSH:D011654 Wet lung|Excess fluid in lungs|Pulmonary oedema|Lung edema Fluid accumulation in the lungs. HP:0100599 Bifid penis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100599 UMLS:C0345322|SNOMEDCT_US:253851000 Penile duplication|Diphallia Two penile structures, separated from the tip to the base of the shaft. HP:0100596 Absent nares biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100596 UMLS:C4020707|UMLS:C4020963 Aplasia/Hypoplasia of the nares|Abouphalia|Missing nostrils|Aplasia of the nares The nostrils (the paired channels of the nose) are not present. HP:0100594 Esophageal web biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0100594 UMLS:C0267080|SNOMEDCT_US:19216006|SNOMEDCT_US:22395006 Thin (2-3mm) membranes of normal esophageal tissue consisting of mucosa and submucosa that can be congenital or acquired. Congenital webs commonly appear in the middle and inferior third of the esophagus, and they are more likely to be circumferential with a central or eccentric orifice. Acquired webs are much more common than congenital webs and typically appear in the cervical area (postcricoid). Clinical symptoms of this condition are selective (solid more than liquids) dysphagia, thoracic pain, nasopharyngeal reflux, aspiration, perforation and food impaction (the last two are very rare). HP:0100595 Camptocormia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0100595 SNOMEDCT_US:13534001|MSH:C537968|UMLS:C0264162 An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders. HP:0100592 Peritoneal abscess biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100592 UMLS:C0267756|SNOMEDCT_US:73962000 The presence of an abscess of the peritoneum. HP:0100593 Calcification of cartilage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100593 UMLS:C4022015 HP:0100590 Rectal fistula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100590 SNOMEDCT_US:80736008|UMLS:C0034884|MSH:D012003 The presence of a fistula affecting the rectum. HP:0002256 Small bowel diverticula biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002256 MEDDRA:10013533|UMLS:C0267498|SNOMEDCT_US:8114009 HP:0003587 Insidious onset biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003587 SNOMEDCT_US:367326009|UMLS:C1298634|SNOMEDCT_US:61751001|UMLS:C0332164 Gradual onset Gradual, very slow onset of disease manifestations. HP:0002257 Chronic rhinitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002257 UMLS:C0008711|SNOMEDCT_US:86094006 Chronic inflammation of the nasal mucosa. HP:0002254 Intermittent diarrhea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002254 UMLS:C0239181 Episodic diarrhea|Intermittent diarrhoea Repeated episodes of diarrhea separated by periods without diarrhea. HP:0003584 Late onset biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003584 UMLS:C4025592 A type of adult onset with onset of symptoms after the age of 60 years. HP:0002253 Colonic diverticula biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002253 MSH:D043963|MSH:D004241|UMLS:C0012819|UMLS:C0012811|SNOMEDCT_US:398050005|MEDDRA:10009993 Colon diverticula|Colonic diverticulosis The presence of multiple diverticula of the colon. HP:0002250 Abnormal large intestine morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002250 UMLS:C4025715 Abnormality of the large intestine Any abnormality of the large intestine. HP:0002251 Aganglionic megacolon biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002251 MEDDRA:10027110|MSH:D006627|SNOMEDCT_US:367495003|UMLS:C0025160|SNOMEDCT_US:33995003|UMLS:C0019569|MSH:D008531|SNOMEDCT_US:204739008 Enlarged colon lacking nerve cells|Hirschsprung disease|Hirschsprung megacolon|Megacolon|Congenital 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. HP:0003581 Adult onset biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003581 UMLS:C1853562 Symptoms begin in adulthood|Onset in early adulthood|Onset in adulthood Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. HP:0002267 Exaggerated startle response biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002267 SNOMEDCT_US:19557000|UMLS:C1740801|UMLS:C0234166|UMLS:C1848918|UMLS:C1836014|MSH:D000071017 Increased startle response|Hyperekplexia|Exaggerated acoustic startle response An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face. HP:0002268 Paroxysmal dystonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002268 MSH:D004421|SNOMEDCT_US:230310003|UMLS:C0393588 Episodic dystonia A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes. HP:0002265 Large fleshy ears biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002265 UMLS:C3808403 Large fleshy ears HP:0003596 Middle age onset biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003596 UMLS:C1969363 A type of adult onset with onset of symptoms at the age of 40 to 60 years. HP:0002266 Focal clonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002266 UMLS:C0752323|MSH:D020938 Partial clonic seizure|Localised clonic seizure|Localized clonic seizure|Focal clonic seizures|Segmental clonic seizure A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive. HP:0002269 Abnormality of neuronal migration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002269 UMLS:C1837249|MSH:D054081 Migrational brain disorder|Neuronal migration disorder|Heterotopias/abnormal migration|Abnormal neuronal migration An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain. HP:0002263 Exaggerated cupid's bow biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002263 UMLS:C1850629 Cupid's bow, accentuated|Prominent cupid-bow of upper lip|Cupid bow upper lip|Exaggerated cupid's bow|Cupid-bow shaped upper lip More pronounced paramedian peaks and median notch of the Cupid's bow. HP:0003593 Infantile onset biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003593 UMLS:C1848924 Infantile onset|Onset in infancy|Onset in first year of life Onset of signs or symptoms of disease between 28 days to one year of life. HP:0002234 Early balding biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002234 UMLS:C4025718 Early balding Loss of scalp hair at an earlier than normal age. HP:0003566 Increased serum prostaglandin E2 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003566 UMLS:C3150358 Elevated prostaglandin E2 An increased concentration of prostaglandin E2 in the blood. HP:0004897 Stress/infection-induced lactic acidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004897 UMLS:C4025278 Metabolic crises during febrile infections A form of lactic acidemia that occurs in relation to stress or infection. HP:0002235 Pili canaliculi biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002235 UMLS:C1860608 Uncombable hair. HP:0003565 Elevated erythrocyte sedimentation rate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003565 SNOMEDCT_US:165468009|UMLS:C0151632 Raised erythrocyte sedimentation rate|High ESR|Increased erythrocyte sedimentation rate|Elevated sedimentation rate|High erythrocyte sedimentation rate|Elevated ESR An increased erythrocyte sedimentation rate (ESR). The ESR a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. HP:0002232 Patchy alopecia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002232 UMLS:C0002171|SNOMEDCT_US:68225006|UMLS:C1862862|MSH:D000506|MSH:C531609 Alopecia areata|Patchy baldness Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches. HP:0003564 Folate-dependent fragile site at Xq28 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003564 UMLS:C1839785 The presence of a folate sensitive fragile site at chromosome Xq28. HP:0003563 Decreased LDL cholesterol concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003563 UMLS:C0020597|SNOMEDCT_US:190786004|UMLS:C0853085|MSH:D006995 Hypobetalipoproteinemia|Decreased LDL|Decreased circulating low-density lipoprotein levels|Decreased LDLc concentration An decreased concentration of low-density lipoprotein cholesterol in the blood. HP:0004894 Laryngotracheal stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004894 UMLS:C3806280 HP:0002239 Gastrointestinal hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002239 SNOMEDCT_US:74474003|UMLS:C0017181|MSH:D006471 Gastrointestinal bleeding|GI hemorrhage|Gastrointestinal haemorrhage Hemorrhage affecting the gastrointestinal tract. HP:0003568 Decreased glucosephosphate isomerase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003568 SNOMEDCT_US:124669001|UMLS:C1291611 Phosphohexose isomerase deficiency|Glucosephosphate isomerase deficiency|Decreased glucose phosphate isomerase activity A decreased level of glucose-6-phosphate isomerase. HP:0002236 Frontal upsweep of hair biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002236 UMLS:C2675540|UMLS:C1185616|UMLS:C3275754 Upswept frontal hairline|Upswept frontal hair pattern|Frontal Cowlick|Frontal upsweep of hair|Cowlick|Upswept frontal hair Upward and/or sideward growth of anterior hair. HP:0004898 Persistent lactic acidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004898 UMLS:C3554538 A continuous form of lactic acidemia. HP:0003562 Abnormal metaphyseal vascular invasion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003562 UMLS:C3277127 HP:0002230 Generalized hirsutism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002230 UMLS:C1849211 Excessive hairiness over body|Generalised hirsutism Abnormally increased hair growth over much of the entire body. HP:0002231 Sparse body hair biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002231 UMLS:C1862863 Limited body hair|Sparse to absent body hair|Sparse body hair|Little body hair Sparseness of the body hair. HP:0003561 Birth length less than 3rd percentile biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003561 UMLS:C1855650 Birth length < 3rd percentile|Birth length <3rd percentile HP:0003560 Muscular dystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003560 SNOMEDCT_US:193225000|SNOMEDCT_US:73297009|UMLS:C0026850|MSH:D009136|UMLS:C1864711 Muscle biopsy shows dystrophic changes The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities. HP:0004891 Recurrent infections due to aspiration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004891 UMLS:C3806285 Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration. HP:0004890 Elevated pulmonary artery pressure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004890 UMLS:C3805917 Elevated lung artery pressure|increased pulmonary artery pressure An abnormally elevated blood pressure in the circulation of the pulmonary artery. HP:0003577 Congenital onset biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003577 UMLS:C1836142|UMLS:C2752013 Symptoms present at birth|Onset at birth|Onset in utero|Prenatal onset|Intrauterine onset A phenotypic abnormality that is present at birth. HP:0002245 Meckel diverticulum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002245 SNOMEDCT_US:37373007|MEDDRA:10027055|MSH:D008467|UMLS:C0025037|SNOMEDCT_US:127962001 Meckel's diverticulum is a congenital diverticulum located in the distal ileum. HP:0002246 Abnormal duodenum morphology biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002246 UMLS:C4025716 Abnormality of the duodenum An abnormality of the duodenum, i.e., the first section of the small intestine. HP:0002243 Protein-losing enteropathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002243 MSH:D011504|SNOMEDCT_US:66972006|UMLS:C0033680|SNOMEDCT_US:22542007 Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract. HP:0003575 Increased intracellular sodium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003575 UMLS:C4025593 High intracellular Na|Increased intracellular Na+ levels An abnormally increased sodium concentration in the cytosol. HP:0003574 Positive regitine blocking test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003574 UMLS:C4025594 A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension. HP:0002244 Abnormality of the small intestine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002244 UMLS:C4025717 An abnormality of the small intestine. HP:0002249 Melena biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002249 SNOMEDCT_US:267055007|SNOMEDCT_US:269899009|UMLS:C0025222|SNOMEDCT_US:249627005|SNOMEDCT_US:35064005|SNOMEDCT_US:2901004|UMLS:C0474585|MSH:D008551 Black feces The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding. HP:0002247 Duodenal atresia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002247 MEDDRA:10013812|Fyler:4406|SNOMEDCT_US:51118003|MSH:C535720|UMLS:C0266174 Absence or narrowing of first part of small bowel A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum. HP:0002248 Hematemesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002248 MSH:D006396|UMLS:C0018926|SNOMEDCT_US:8765009 Vomitting blood The vomiting of blood. HP:0003573 Increased total bilirubin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003573 UMLS:C0741494|SNOMEDCT_US:176271000119108 High bili total|Increased bilirubin Increased concentration of total (conjugated and unconjugated) bilirubin in the blood. HP:0003572 Low plasma citrulline biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003572 UMLS:C1839532 A decreased concentration of citrulline in the blood. HP:0002242 Abnormal intestine morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002242 MSH:D007410|UMLS:C0021831|SNOMEDCT_US:85919009 Abnormality of the intestine|Enteropathy An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. HP:0003571 Propionic acidemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003571 UMLS:C0268579|MSH:D056693|SNOMEDCT_US:69080001|SNOMEDCT_US:124718009 Increased concentration of proprionic acid in the blood circulation. HP:0002240 Hepatomegaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002240 UMLS:C0019209|MSH:D006529|SNOMEDCT_US:80515008 Enlarged liver Abnormally increased size of the liver. HP:0003570 Molybdenum cofactor deficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003570 SNOMEDCT_US:29692004|UMLS:C0268119|MSH:C535811 Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase. HP:0100600 Penoscrotal transposition biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100600 UMLS:C1868854|SNOMEDCT_US:312005008|MSH:C536650 Prepenile scrotum A partial or complete positional exchange between the penis and the scrotum, with positioning of the scrotum superior to the penis. HP:0100601 Eclampsia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100601 MSH:D004461|UMLS:C0013537|SNOMEDCT_US:15938005 An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders. HP:0002298 Absent hair biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002298 UMLS:C0574763|SNOMEDCT_US:297991008 Absent hair HP:0002299 Brittle hair biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002299 UMLS:C4072837|UMLS:C0263490|SNOMEDCT_US:25159003|UMLS:C1851868|UMLS:C1970705 Easily breakable hair|Fragile hair|Brittle hair|Reduced tensile strength of hair|Fractured hair Fragile, easily breakable hair, i.e., with reduced tensile strength. HP:0002292 Frontal balding biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002292 MSH:D000505|UMLS:C4083212|UMLS:C1864584|SNOMEDCT_US:87872006 Male pattern baldness|Frontal balding Absence of hair in the anterior midline and/or parietal areas. HP:0100608 Metrorrhagia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100608 UMLS:C0025874|SNOMEDCT_US:64996003|SNOMEDCT_US:237130006|MSH:D008796|SNOMEDCT_US:19155002 Abnormal uterus bleeding|Intermenstrual bleeding|Menstrual spotting Bleeding at irregular intervals. HP:0100609 obsolete Hypermenorrhea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100609 HP:0002293 Alopecia of scalp biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002293 SNOMEDCT_US:298000004|SNOMEDCT_US:278040002|MSH:D000505|SNOMEDCT_US:56317004|UMLS:C1850535|UMLS:C0574769|UMLS:C0002170 Absence of scalp hair|Missing scalp hair|Baldness|Pathologic hair loss from scalp|Scalp hair loss HP:0002290 Poliosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002290 UMLS:C0221262|SNOMEDCT_US:14240001 White patch|Patch of white hair Circumscribed depigmentation of the hair of the head or the eyelashes. HP:0100606 Neoplasm of the respiratory system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100606 SNOMEDCT_US:448708002|NCIT:C3262|UMLS:C0035244|SNOMEDCT_US:126667002|MSH:D012142 Respiratory system tumor A tumor (abnormal growth of tissue) of the respiratory system. HP:0100607 Dysmenorrhea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100607 MSH:D004412|SNOMEDCT_US:289900009|SNOMEDCT_US:431416001|UMLS:C0013390|SNOMEDCT_US:266599000 Painful menstruation Pain during menstruation that interferes with daily activities. HP:0100604 Neoplasm of the lip biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100604 MSH:D008048|NCIT:C3262|UMLS:C4020706|SNOMEDCT_US:126770008|UMLS:C0023761 Tumor of the lip|Neoplasia of the lip|Lip tumor A tumor (abnormal growth of tissue) of the lip. HP:0002296 Progressive hypotrichosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002296 UMLS:C1857048 Progressively reduced or lacking hair growth. HP:0100605 Neoplasm of the larynx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100605 MSH:D007822|NCIT:C3262|SNOMEDCT_US:126692004|UMLS:C0023055 HP:0002297 Red hair biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002297 UMLS:C0239803|SNOMEDCT_US:297997007 Ginger hair color|Red head (hair color)|Red hair color|Red hair HP:0100602 Preeclampsia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100602 SNOMEDCT_US:398254007|MSH:D011225|UMLS:C0032914|SNOMEDCT_US:15394000 Pre-eclampsia Pregnancy-induced hypertension in association with significant amounts of protein in the urine. HP:0100603 Toxemia of pregnancy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100603 SNOMEDCT_US:15394000|SNOMEDCT_US:398254007|UMLS:C0032914|MSH:D011225 Toxaemia of pregnancy|Hypertensive disorder of pregnancy Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia. HP:0100611 Multiple glomerular cysts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100611 UMLS:C4022013|UMLS:C4020705 Glomerulocystic kidney disease The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule. HP:0100612 Odontogenic neoplasm biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0100612 SNOMEDCT_US:3833004|SNOMEDCT_US:127578009|MSH:D009808|UMLS:C0028880|NCIT:C3286 Odontogenic tumor Neoplasm involving odontogenic cells, an odontogenic tumor. HP:0100610 Maternal hyperphenylalaninemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100610 UMLS:C4022014 High blood phenylalanine level in mother A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy. HP:0100619 Sertoli cell neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100619 NCIT:C39976|UMLS:C4020704 Sertoli cell neoplasia The presence of a neoplasm of the testis with origin in a Sertoli cell. HP:0100617 Testicular seminoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100617 NCIT:C9309|SNOMEDCT_US:36741007|SNOMEDCT_US:443675005|SNOMEDCT_US:255107005|MSH:D018239|UMLS:C0036631 The presence of a seminoma, an undifferentiated germ cell tumor of the testis. HP:0100618 Leydig cell neoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100618 UMLS:C4022011|NCIT:C3188 The presence of a neoplasm of the testis with origin in a Leydig cell. HP:0100615 Ovarian neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100615 UMLS:C0919267|SNOMEDCT_US:123843001|MSH:D010051|NCIT:C3262 Neoplasm of the ovaries|Ovarian neoplasia|Neoplasm of the ovary|Ovarian tumor|Ovarian cancer A tumor (abnormal growth of tissue) of the ovary. HP:0100616 Testicular teratoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100616 UMLS:C0238451|MSH:C562472|NCIT:C3403 The presence of a teratoma of the testis. HP:0100613 Death in early adulthood biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100613 UMLS:C4022012 Death in early adulthood Death between the age of 16 and 40 years. HP:0100614 Myositis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100614 SNOMEDCT_US:26889001|SNOMEDCT_US:128496001|MSH:D009220|UMLS:C0027121 Muscle inflammation A general term for inflammation of the muscles without respect to the underlying cause. HP:0100622 Maternal seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100622 UMLS:C4022010 Maternal seizures A seizure during pregnancy. HP:0100623 Abnormality of corpus cavernosum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100623 UMLS:C4022009 HP:0100620 Germinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100620 MSH:D018237|SNOMEDCT_US:28307001|UMLS:C0206660 A type of undifferentiated germ cell tumor that may be benign or malignant. HP:0100621 Dysgerminoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100621 MSH:D004407|SNOMEDCT_US:60718004|NCIT:C2996|UMLS:C0013377 The presence of a dysgerminoma, i.e., an undifferentiated germ cell tumor of the ovary. HP:0002277 Horner syndrome biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002277 UMLS:C0019937|SNOMEDCT_US:271730003|SNOMEDCT_US:192915005|MSH:D006732|SNOMEDCT_US:12731000 Oculosympathetic palsy|Horner's syndrome An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection. HP:0002270 Abnormality of the autonomic nervous system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002270 UMLS:C4025714 An abnormality of the autonomic nervous system. HP:0002271 obsolete Autonomic dysregulation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002271 HP:0100628 Esophageal diverticulum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100628 SNOMEDCT_US:414133009|MSH:D004936|UMLS:C0014854|SNOMEDCT_US:204667006 Esophageal pouch The presence of a diverticulum of the esophagus. HP:0100629 Midline facial cleft biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100629 UMLS:C4022007 Midline facial cleft A congenital malformation with a cleft (gap or opening) in the midline of the face. HP:0100626 Chronic hepatic failure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100626 UMLS:C2936476|SNOMEDCT_US:235886005|MSH:D058625 Chronic liver failure HP:0100627 Displacement of the urethral meatus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100627 UMLS:C4020961 Displacement of the external urethral orifice|Displacement of the male external urethral orifice A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina). HP:0002275 Poor motor coordination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002275 UMLS:C1848453 Poor motor coordination HP:0100624 Corpus cavernosum sclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100624 UMLS:C4022008 HP:0100625 Enlarged thorax biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100625 UMLS:C4020962 Wide rib cage|Wide thorax HP:0002273 Tetraparesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002273 UMLS:C0270790|SNOMEDCT_US:91327001|MSH:D011782 Quadriparesis Weakness of all four limbs. HP:0100633 Esophagitis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0100633 MSH:D004941|SNOMEDCT_US:16761005|UMLS:C0014868|MEDDRA:10030216 Inflammation of the esophagus|Oesophagitis Inflammation of the esophagus. HP:0100634 Neuroendocrine neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100634 SNOMEDCT_US:255046005|MSH:D018358|UMLS:C0206754|SNOMEDCT_US:128928004 Neuroendocrine neoplasia A tumor that originates from a neuroendocrine cell. HP:0100631 Neoplasm of the adrenal gland biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100631 NCIT:C3262|UMLS:C0001624|SNOMEDCT_US:127021009|MSH:D000310 Adrenal neoplasia A tumor (abnormal growth of tissue) of the adrenal gland. HP:0100632 Pulmonary sequestration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100632 SNOMEDCT_US:18620009|UMLS:C4020703|UMLS:C0006288|MSH:D001998 Cystic lung lesion The presence of a piece lung tissue which is not attached to the pulmonary blood supply and does not communicate with the other lung tissue (not connected to the standard bronchial airways and not performing a function in respiration). HP:0100630 Neoplasia of the nasopharynx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100630 SNOMEDCT_US:126680004|MSH:D009303|UMLS:C0027439|NCIT:C3262 Nasopharyngeal neoplasm|Neoplasm of the nasopharynx|Tumor of the nasopharynx HP:0002289 Alopecia universalis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002289 SNOMEDCT_US:86166000|UMLS:C0263505|MSH:C537055 Alopecia, complete|Universal alopecia Loss of all hair on the entire body. HP:0002287 Progressive alopecia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002287 UMLS:C1851885 Progressive loss of hair. HP:0002281 obsolete Gray matter heterotopias biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002281 HP:0002282 Gray matter heterotopia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002282 UMLS:C0008519|SNOMEDCT_US:128490007|MSH:D002828|SNOMEDCT_US:416286003|SNOMEDCT_US:417338002 Gray matter heterotopias|Heterotopia|Heterotopias|Grey matter heterotopia|Neuronal heterotopia Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter. HP:0100639 Erectile dysfunction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100639 Abnormal erection|Erectile abnormalities A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological. HP:0002280 Enlarged cisterna magna biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002280 UMLS:C1853377 Large cisterna magna|Mega 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. HP:0100637 obsolete Neoplasia of the nose biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100637 HP:0002286 Fair hair biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002286 UMLS:C1849221|SNOMEDCT_US:297995004|UMLS:C0239801 Towhead (hair color)|Sandy hair color|Fair hair|Flaxen hair color|Light colored hair|Fair hair color|Straw colored hair|Blond hair A lesser degree of hair pigmentation than would otherwise be expected. HP:0100638 Neoplasm of the pharynx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100638 NCIT:C3262|UMLS:C0031347|MSH:D010610|SNOMEDCT_US:126685009 Tumor of the pharynx|Neoplasia of the pharynx|Pharyngeal neoplasm A neoplasm originating in the pharynx. HP:0002283 Global brain atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002283 UMLS:C0241816 Generalized brain atrophy|Generalized cerebral atrophy|Diffuse brain atrophy|Generalized brain degeneration Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size. HP:0100635 Carotid paraganglioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100635 UMLS:C4022005 A paraganglioma (a neuroendocrine neoplasm) originating in a carotid artery. HP:0100636 Pulmonary paraglioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100636 UMLS:C4022004 A rare paranglioma of the lung, tumors that arise from extra-adrenal chromaffin cells. HP:0003508 Proportionate short stature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003508 UMLS:C0878660 Short stature, proportionate|Proportionate small stature A kind of short stature in which different regions of the body are shortened to a comparable extent. HP:0004839 Pyropoikilocytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004839 SNOMEDCT_US:9434008|UMLS:C0520739|MSH:C563004 hereditary pyropoikilocytosis A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn. HP:0004836 Acute promyelocytic leukemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004836 UMLS:C0023487|SNOMEDCT_US:28950004|MSH:D015473|SNOMEDCT_US:110004001 Acute promyelocytic leukaemia A type of acute myeloid leukemia in which abnormal promyelocytes predominate. HP:0004831 Recurrent thromboembolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004831 UMLS:C0749398|UMLS:C4025286 Recurrent thromboembolic disease 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. HP:0004835 Microspherocytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004835 UMLS:C4025285 The presence of erythrocytes that are sphere-shaped and reduced in size. HP:0003502 Mild short stature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003502 UMLS:C3150077|UMLS:C4020838 short stature, mild|Relative short stature A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex. HP:0004848 Ph-positive acute lymphoblastic leukemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004848 SNOMEDCT_US:425688002|SNOMEDCT_US:426955004|UMLS:C1960397 Philadelphia-positive acute lymphoblastic leukemia|Ph-positive acute lymphoblastic leukaemia A subset of acute lymphoblastic leukemia that results from a reciprocal translocation between the ABL-1 oncogene and a breakpoint cluster region (BCR), resulting in a fusion gene, BCR-ABL, that encodes an oncogenic protein with constitutively active tyrosine kinase activity. HP:0003517 Birth length greater than 97th percentile biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003517 UMLS:C1839271 Fetal overgrowth HP:0003510 Severe short stature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003510 SNOMEDCT_US:422065006|SNOMEDCT_US:237836003|UMLS:C0013336|MSH:D004392|SNOMEDCT_US:237837007 Dwarfism|Short stature, extreme|Proportionate dwarfism|Severe short stature|Short stature, severe A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. HP:0004841 Reduced factor XII activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004841 UMLS:C0015526|SNOMEDCT_US:46981006|MSH:D005175 Factor XII deficiency|Hageman factor deficiency Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade. HP:0004840 Hypochromic microcytic anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004840 SNOMEDCT_US:44666001|MSH:C536357|UMLS:C0271901 Hypochromic, microcytic anemia|Hypochromic microcytic anaemia A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes. HP:0004846 Prolonged bleeding after surgery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004846 UMLS:C4021646 Protracted bleeding after surgery|Prolonged bleeding after surgery|Excessive bleeding during surgery Bleeding that persists longer than the normal time following a surgical procedure. HP:0003514 Deficiency or absence of cytochrome b(-245) biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003514 UMLS:C1844390 Deficiency or absence of cytochrome b HP:0004845 Acute monocytic leukemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004845 MSH:D007948|UMLS:C0023465|SNOMEDCT_US:413441006|SNOMEDCT_US:22331004 Acute monoblastic leukemia|Acute monocytic leukaemia|AML-M5|AMoL The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation. HP:0003513 Reduced ratio of renal calcium clearance to creatinine clearance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003513 UMLS:C4025605 Reduced ration of kidney calcium clearance to creatinine clearance|Reduced ration of renal Ca2+ to creatinine clearance|Reduced ration of renal Ca clearance to creatinine clearance A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01. HP:0004844 Coombs-positive hemolytic anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004844 SNOMEDCT_US:74789008|UMLS:C0520736 Direct Coombs positive|Coombs-positive hemolytic anaemia A type of hemolytic anemia in which the Coombs test is positive. HP:0004817 Drug-sensitive hemolytic anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004817 UMLS:C4025289 Drug-sensitive hemolytic anaemia A form of hemolytic anemia that is triggered by ingestion of certain drugs. HP:0004814 Fava bean-induced hemolytic anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004814 UMLS:C4021648 Hemolytic anemia following ingestion of fava beans|Fava bean-induced hemolytic anaemia A kind of hemolytic anemia that is induced by the ingestion of fava beans. HP:0004819 Normocytic hypoplastic anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004819 UMLS:C1835875 Normocytic hypoplastic anaemia A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits). HP:0004818 Paroxysmal nocturnal hemoglobinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004818 UMLS:C0024790|MSH:D006457|SNOMEDCT_US:1963002 Paroxysmal nocturnal haemoglobinuria HP:0004813 Post-transfusion thrombocytopenia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004813 MSH:C562868|UMLS:C0398648|UMLS:C1868252|SNOMEDCT_US:73162004 Post-transfusion purpura Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages. HP:0004812 B Acute Lymphoblastic Leukemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004812 Pre-B-cell acute lymphoblastic leukemia|B Acute Lymphoblastic Leukaemia A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood. HP:0004810 Congenital hypoplastic anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004810 SNOMEDCT_US:234371002|SNOMEDCT_US:52951008|MSH:D000742|UMLS:C0002876|UMLS:C1260899|SNOMEDCT_US:88854002|MSH:D029503 Congenital hypoplastic anaemia|Congenital dyserythropoietic anemia A type of hypoplastic anemia with congenital onset. HP:0004828 Refractory anemia with ringed sideroblasts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004828 UMLS:C1264195|ICD-O:M9982/3|SNOMEDCT_US:128846006|SNOMEDCT_US:109998009 Refractory anaemia with ringed sideroblasts|Myelodysplasia with sideroblastosis A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow being abnormal iron-stuffed cells called ringed sideroblasts. HP:0004826 Folate-unresponsive megaloblastic anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004826 UMLS:C4025287 Folate-unresponsive megaloblastic anaemia A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia. HP:0004825 Increased hemoglobin oxygen affinity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004825 UMLS:C4021647 Increased hemoglobin O2 affinity|Increased haemoglobin oxygen affinity|Increased Hb O2 affinity|Increased Hb oxygen affinity An abnormal increase in the binding affinity of hemoglobin for oxygen. HP:0004820 Acute myelomonocytic leukemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004820 UMLS:C0023479|SNOMEDCT_US:110005000|MSH:D015479|SNOMEDCT_US:277601005|SNOMEDCT_US:30962008 Acute myelomonocytic leukaemia An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. HP:0004823 Anisopoikilocytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004823 UMLS:C2675920 A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes. HP:0004822 Atypical elliptocytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004822 UMLS:C1857010|MSH:C565598 HP:0004821 Hypersegmentation of neutrophil nuclei biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004821 UMLS:C4025288 Hypersegmentation of neutrophil nuclei in peripheral blood|Hypermature neutrophils An excessive division of the lobes of the nucleus of a neutrophil. HP:0002218 Silver-gray hair biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002218 UMLS:C1836576 Silver-gray hair|Silvery-gray hair|Silver-gray hair color Hypopigmented hair that appears silver-gray. HP:0002219 Facial hypertrichosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002219 UMLS:C1851400|MSH:C565029 Increased facial hair growth Excessive, increased hair growth located in the facial region. HP:0003549 Abnormality of connective tissue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003549 UMLS:C4025596 Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). HP:0002212 Curly hair biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002212 SNOMEDCT_US:225570000|UMLS:C0558165 Curly hair HP:0004875 Neonatal inspiratory stridor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004875 UMLS:C4025281 HP:0002213 Fine hair biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002213 SNOMEDCT_US:247546006|UMLS:C0423867 Thin hair texture|Fine hair texture|Thin hair shaft|Thinned hair|Fine hair|Fine hair shaft|Thin hair Hair that is fine or thin to the touch. HP:0003542 Increased serum pyruvate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003542 UMLS:C1849488 Increased serum pyruvic acid An increased concentration of pyruvate in the blood. HP:0004872 Incisional hernia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004872 UMLS:C4021645|SNOMEDCT_US:241556001|SNOMEDCT_US:236037000|MSH:D000069290|UMLS:C0267716 Recurrent abdominal hernia An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound. HP:0003541 Urinary glycosaminoglycan excretion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003541 UMLS:C4025598 Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit. HP:0002211 White forelock biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002211 UMLS:C0344312|SNOMEDCT_US:247564004 Poliosis of forelock hair|Poliosis of anterior hair|White part of hair above forehead A triangular depigmented region of white hairs located in the anterior midline of the scalp. HP:0004879 Intermittent hyperventilation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004879 SNOMEDCT_US:423427003|UMLS:C1828017 Episodic hyperventilation|Intermittent overbreathing Episodic hyperventilation. HP:0002216 Premature graying of hair biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002216 UMLS:C0263498|SNOMEDCT_US:387833009 Premature greying of hair|Early graying|Premature graying of the hair|Premature hair graying|Premature greying|Premature graying|Premature graying of hair Development of gray hair at a younger than normal age. HP:0003548 Subsarcolemmal accumulations of abnormally shaped mitochondria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003548 UMLS:C4025597 An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology. HP:0003547 Shoulder girdle muscle weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003547 UMLS:C0748691|SNOMEDCT_US:249940002|UMLS:C0427063 Weak shoulder muscles|Muscle weakness, shoulder-girdle|Shoulder weakness|Shoulder girdle weakness The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders. HP:0002217 Slow-growing hair biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002217 UMLS:C1832348 Slow-growing hair|Slow rate of hair growth|Slow growing hair|Slow speed of hair growth Hair whose growth is slower than normal. HP:0004878 Intercostal muscle weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004878 UMLS:C0240017 Dependence on diaphragmatic breathing|Muscle weakness between ribs Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall. HP:0003546 Exercise intolerance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003546 UMLS:C0424551|SNOMEDCT_US:267044007 Decreased ability to exercise|Poor exercise tolerance|Low exercise endurance|Inability to exercise A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender. HP:0002215 Sparse axillary hair biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002215 UMLS:C1858574 Sparse scalp, axillary, and pubic hair|Limited armpit hair|Sparse axillary and pubic hair|Little underarm hair|sparse to absent axillary hair Reduced number or density of axillary hair. HP:0004876 Spontaneous neonatal pneumothorax biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004876 UMLS:C1857021 Neonatal pneumothorax Pneumothorax occurring neonatally without traumatic injury to the chest or lung. HP:0004871 Perineal fistula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004871 UMLS:C0561921|SNOMEDCT_US:284077005 The presence of a fistula between the bowel and the perineum. HP:0003540 Impaired platelet aggregation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003540 UMLS:C1855853 Platelet aggregation defect|Deficient platelet aggregation|Defective 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. HP:0004870 Chronic hemolytic anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004870 UMLS:C1387532|SNOMEDCT_US:707480001 Chronic hemolytic anaemia|hemolytic anemia, chronic An chronic form of hemolytic anemia. HP:0002229 obsolete Alopecia areata biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002229 HP:0002223 Absent eyebrow biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002223 UMLS:C4280582|UMLS:C4280581|SNOMEDCT_US:422441003|SNOMEDCT_US:253208007|UMLS:C0431448|UMLS:C0578682 Agenesis of eyebrows|Absent eyebrows|Missing eyebrows|Aplasia of eyebrows|Absent eyebrow|Loss of eyebrows|Failure of development of eyebrows Absence of the eyebrow. HP:0003555 Muscle fiber splitting biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003555 UMLS:C1836057 Fibre splitting|Fiber splitting|Muscle fibre splitting Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches. HP:0004886 Congenital laryngeal stridor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004886 UMLS:C0265763|SNOMEDCT_US:55490007 HP:0004885 Episodic respiratory distress biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004885 UMLS:C1844945 Episodic difficulty breathing|respiratory distress, episodic HP:0002224 Woolly hair biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002224 SNOMEDCT_US:52564001|UMLS:C4072836|UMLS:C4072835|UMLS:C4073292|MEDDRA:10048017|UMLS:C0343073 Kinked hair|Wooly hair|Kinky hair texture|Afro-textured hair|Nappy hair texture The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. HP:0003554 Type 2 muscle fiber atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003554 UMLS:C1864580 Type 2 muscle fibre atrophy|Type 2 fiber atrophy Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy. HP:0002221 Absent axillary hair biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002221 UMLS:C1859392 Absence of axillary hair. HP:0003553 obsolete Cellulitis due to immunodeficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003553 HP:0003552 Muscle stiffness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003552 UMLS:C0221170|SNOMEDCT_US:16046003 A condition in which muscles cannot be moved quickly without accompanying pain or spasm. HP:0002227 White eyelashes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002227 UMLS:C1836736|UMLS:C4280578 White eyelashes|Pale eyelashes|Blonde eyelashes|Depigmented eyelashes|Grey eyelashes White color (lack of pigmentation) of the eyelashes. HP:0003559 Muscle hyperirritability biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003559 UMLS:C1853701 HP:0003558 Viral infection-induced rhabdomyolysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003558 UMLS:C4025595 Rhabdomyolysis induced by a viral infection. HP:0004889 Intermittent episodes of respiratory insufficiency due to muscle weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004889 UMLS:C3807025 HP:0003557 Increased variability in muscle fiber diameter biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003557 UMLS:C1843700 Increased variability in muscle fiber size|Increased fiber size variation|Increased variability in muscle fibre diameter|Variation in muscle fiber size|Increased variation in fiber size|Increased variation in muscle fiber size An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy. HP:0002225 Sparse pubic hair biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002225 UMLS:C1858573 sparse to absent pubic hair|Sparse pubic hair|Decreased sexual hair Reduced number or density of pubic hair. HP:0002226 White eyebrow biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002226 UMLS:C4280579|UMLS:C1836737|UMLS:C4280580 Depigmented eyebrow|Pale eyebrow|Blonde eyebrow|Grey eyebrow|White eyebrow|Hypopigmented eyebrow White color (lack of pigmentation) of the eyebrow. HP:0004887 Respiratory failure requiring assisted ventilation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004887 UMLS:C4025279 Respiratory distress requiring endotracheal intubation|Respiratory distress necessitating mechanical ventilation|Respiratory distress requiring mechanical ventilation A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation. HP:0003551 Difficulty climbing stairs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003551 SNOMEDCT_US:282195009|UMLS:C0239067 Difficulty walking up stairs Reduced ability to climb stairs. HP:0002220 Melanin pigment aggregation in hair shafts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002220 UMLS:C1843390 HP:0003550 Predominantly lower limb lymphedema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003550 UMLS:C1835228 Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs. HP:0004881 Episodic hypoventilation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004881 UMLS:C1844946 Episodic slow breathing|Episodic under breathing HP:0004880 Respiratory infections in early life biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004880 UMLS:C4025280 Increased susceptibility to respiratory infections in early life, as manifested by recurrent episodes of respiratory infections. HP:0003529 Parathormone-independent increased renal tubular calcium reabsorption biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003529 UMLS:C4025604 Parathormone-independent increased renal tubular Ca reabsorption|Parathormone-independent increased renal tubular Ca2+ reabsorption An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels. HP:0003528 Elevated calcitonin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003528 UMLS:C1868394 Elevated calcitonin HP:0004859 Amegakaryocytic thrombocytopenia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004859 UMLS:C0398639|SNOMEDCT_US:234482009 Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes. HP:0003527 Hyperprostaglandinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003527 UMLS:C1866498 High urine prostaglandin levels An increased concentration of prostaglandin in the urine. HP:0003521 Disproportionate short-trunk short stature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003521 UMLS:C1846435 Disproportionate short-trunked short stature|Short-trunked dwarfism|Disproportionate short-trunked dwarfism A type of disproportionate short stature characterized by a short trunk but a average-sized limbs. HP:0004852 Reduced leukocyte alkaline phosphatase biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004852 UMLS:C1850780 Reduced leukocyte ALP|Low leukocyte alkaline phosphatase Decreased alkaline phosphatase measured within leukocytes. HP:0004851 Folate-responsive megaloblastic anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004851 UMLS:C2749656 Folate-responsive megaloblastic anaemia A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate. HP:0004850 Recurrent deep vein thrombosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004850 SNOMEDCT_US:710167004|UMLS:C1735901 Recurrent venous thrombosis|Recurrent deep vein blood clot Repeated episodes of the formation of a blot clot in a deep vein. HP:0004857 Hyperchromic macrocytic anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004857 UMLS:C3854594 Hyperchromic macrocytic anaemia A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin. HP:0003526 Orotic acid crystalluria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003526 UMLS:C3278626 Formation of crystals owing to an increased concentration of orotic acid in the urine. HP:0004856 Normochromic microcytic anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004856 SNOMEDCT_US:4984008|UMLS:C0271902 Normochromic microcytic anaemia A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes. HP:0003524 Decreased methionine synthase activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003524 UMLS:C1848580 Methionine synthase deficiency|Reduced methionine synthase activity|Methionine synthase activity decreased|Decreased activity of methionine synthase A reduction in methionine synthase activity. HP:0004855 Reduced protein S activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004855 MSH:D018455|SNOMEDCT_US:1563006|UMLS:C4025284|UMLS:C0242666 Protein S deficiency An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C. HP:0004854 Intermittent thrombocytopenia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004854 UMLS:C1839167 Reduced platelet count that occurs sporadically, i.e., it comes and goes. HP:0002209 Sparse scalp hair biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002209 UMLS:C1873509|UMLS:C1857042 Reduction in the number of scalp follicles|Scalp hair, thinning|Decreased number of scalp follicles|Sparse scalp hair|Reduced/lack of hair on scalp|Scalp hypotrichosis|Sparse, thin scalp hair|Hypotrichosis on scalp|sparse-absent scalp hair|Thin scalp hair Decreased number of hairs per unit area of skin of the scalp. HP:0002207 Diffuse reticular or finely nodular infiltrations biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002207 UMLS:C1843428 HP:0002208 Coarse hair biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0002208 UMLS:C0277959|SNOMEDCT_US:48610005|UMLS:C4072834 Rough hair texture|Coarse hair|Coarse hair texture Hair shafts are rough in texture. HP:0003538 Increased serum iduronate sulfatase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003538 UMLS:C4025599|UMLS:C2673363 Increased serum iduronate sulfatase An increased level of iduronate-2-sulfatase activity in the blood. HP:0004864 Refractory sideroblastic anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004864 UMLS:C0002896|SNOMEDCT_US:41841004|MSH:D000756 Refractory sideroblastic anaemia A type of sideroblastic anemia that is not responsive to treatment. HP:0003533 Reduced acetaldehyde dehydrogenase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003533 UMLS:C4025601 Delayed oxidation of acetaldehyde Decreased level of acetaldehyde dehydrogenase (ADH). ADH and alcohol dehydrogenase (ALDH) are the primary enzymes involved in alcohol metabolism. HP:0002202 Pleural effusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002202 UMLS:C0032227|MSH:D010996|SNOMEDCT_US:60046008 Fluid around lungs The presence of an excessive amount of fluid in the pleural cavity. HP:0004863 Compensated hemolytic anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004863 UMLS:C4025283 Compensated hemolytic anaemia HP:0003532 Ornithinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003532 UMLS:C4025602 An increased concentration of ornithine in the urine. HP:0002200 Pseudobulbar signs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002200 UMLS:C1838579 Pseudobulbar symptoms 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. HP:0003530 Elevated circulating glutaric acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003530 UMLS:C4025603 Glutarate acidemia|Glutaric acidemia An increased concentration of glutaric acid in the blood. HP:0004861 Refractory macrocytic anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004861 UMLS:C2675059 Refractory macrocytic anaemia HP:0002205 Recurrent respiratory infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002205 UMLS:C3806482 Frequent respiratory infections|Recurrent respiratory infections|respiratory infections, recurrent|Multiple respiratory infections|Susceptibility to respiratory infections An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. HP:0003537 Hypouricemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003537 SNOMEDCT_US:4519003|UMLS:C0221333 Low blood uric acid levels An abnormally low level of uric acid in the blood. HP:0003536 Decreased fumarate hydratase activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003536 UMLS:C1853903 An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity. HP:0002206 Pulmonary fibrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002206 UMLS:C0034069|MSH:D011658|SNOMEDCT_US:51615001 Replacement of normal lung tissues by fibroblasts and collagen. HP:0002203 Respiratory paralysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002203 MSH:D012133|SNOMEDCT_US:64228003|UMLS:C0035232 Inability to move the muscles of respiration. HP:0003535 3-Methylglutaconic aciduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003535 UMLS:C3696376|MSH:C579867|SNOMEDCT_US:237950009 3-Methylglutaconicaciduria An increased amount of 3-methylglutaconic acid in the urine. HP:0004866 Impaired ADP-induced platelet aggregation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004866 UMLS:C4025282 Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP. HP:0002204 Pulmonary embolism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0002204 SNOMEDCT_US:59282003|MSH:D011655|UMLS:C0034065 Blood clot in artery of lung An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery. HP:0003534 Reduced xanthine dehydrogenase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0003534 UMLS:C0268118|SNOMEDCT_US:124147007|UMLS:C4025600|MSH:C562584|SNOMEDCT_US:72682008 Xanthine dehydrogenase deficiency An abnormal reduction in xanthine dehydrogenase level. HP:0004860 Thiamine-responsive megaloblastic anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004860 UMLS:C0271972|SNOMEDCT_US:12907000 Thiamine-responsive megaloblastic anaemia A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine. HP:0005092 Streaky metaphyseal sclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005092 UMLS:C4025253 Streak increase in bone density in wide portion of wide bone The presence of streaks (bands) of abnormally increased density of metaphyseal bone. HP:0005093 Absent proximal radial epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005093 UMLS:C1855301 Absence of the proximal radial epiphysis. HP:0031380 Abnormal B cell proliferation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031380 Any abnormality in the multiplication or reproduction of B cells, which results in the expansion of a cell population. HP:0031381 Decreased lymphocyte proliferation in response to mitogen biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031381 Reduced lymphocyte proliferation to mitogen A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA). HP:0030050 Narcolepsy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030050 UMLS:C0027404|SNOMEDCT_US:60380001|MSH:D009290 An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis. HP:0005090 Lateral femoral bowing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005090 UMLS:C1866737 A lateral bending or abnormal curvature of the femur. HP:0031386 Increased micromegakaryocyte count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031386 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. HP:0030055 Hyperconvex toenail biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030055 UMLS:C4022661 When viewed on end (with the tip of the toe pointing toward the examiner's eye) the curve of the toenail forms a tighter curve of convexity. HP:0030056 Uncombable hair biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030056 UMLS:C1860607 Uncombable hair Hair that is disorderly, stands out from the scalp, and cannot be combed flat. HP:0031387 Increased multinucleated megakaryocyte count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031387 The presence of abnormally high numbers of multinucleated megakaryocytes in the bone marrow. HP:0031388 Megakaryocyte nucleus hyperlobulation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031388 The presence of megakaryocytes in the bone marrow whose nuclei are more lobulated than expected for the size of the nucleus. HP:0030057 Autoimmune antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030057 UMLS:C4022660 The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues. HP:0031389 Abnormal MHC II surface expression biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031389 A deviation from the normal level of major histocompatibility complex class II molecules expressed at the cell surface. HP:0030058 Sickled erythrocytes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030058 UMLS:C2237347 An irreversible distortion of the morphology of an erythrocyte such that the cells are elongated and curved, resembling the blade of a sickle (the hand-held agricultural tool traditionally used to harvest grains). HP:0030051 Tip-toe gait biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030051 UMLS:C1843570 Walking on tiptoes An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait. HP:0031382 Decreased lymphocyte proliferation in response to anti-CD3 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031382 Defective lymphocyte proliferation to anti-CD3|Defective proliferation of lymphocytes following anti-CD3 stimulation A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3. HP:0031383 Abnormal lymphocyte surface marker expression biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031383 Abnormal amount of a protein that is normally present on the cell surface of lymphocytes. HP:0030052 Inguinal freckling biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030052 UMLS:C1834297 Freckles in groin region The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. HP:0031384 Reduced T cell CD40 expression biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031384 A deficiency in the expression of the CD40 ligand on the surface of activated T-lymphocytes. HP:0030053 Stiff skin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030053 UMLS:C3276815 Stiff skin|Indurated skin An induration (hardening) of the skin HP:0031385 Megakaryocyte nucleus hypolobulation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031385 The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus. HP:0030054 Perifollicular fibrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030054 UMLS:C2748531 Presence of excess fibrous connective tissue surrounding hair follicules. HP:0030059 Mitochondrial depletion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030059 UMLS:C4022659 An abnormal reduction in mitochondrial DNA content of cells. HP:0005089 Abnormal metaphyseal trabeculation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005089 UMLS:C1857139 An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone. HP:0005084 Anterior radial head dislocation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005084 UMLS:C2674451 Anterior dislocation of radial head A dislocation of the head of the radius from its socket in the elbow joint in an anterior direction. HP:0005085 Limited knee flexion/extension biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005085 UMLS:C1968606 A limited ability of the knee joint to perform extension and flexion. HP:0005086 Knee osteoarthritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005086 UMLS:C0409959|MSH:D020370|SNOMEDCT_US:239873007 HP:0031390 Reduced MHC II surface expression biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031390 A reduction from the normal level of major histocompatibility complex class II molecules expressed at the cell surface. HP:0031391 Elevated MHC II surface expression biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031391 An increase above the normal level of major histocompatibility complex class II molecules expressed at the cell surface. HP:0030060 Nervous tissue neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030060 UMLS:C0027665|MSH:D009380 A neoplasm derived from nervous tissue (not necessarily a neoplasm located in the nervous system). HP:0030061 Neuroectodermal neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030061 UMLS:C0206093|SNOMEDCT_US:253096008|SNOMEDCT_US:73676002|MSH:D017599 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. HP:0031392 Abnormal proportion of CD4-positive T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031392 Abnormal proportion of CD4-positive, alpha-beta T cells|Abnormal proportion of CD4+ T cells Any abnormality in the proportion of CD4-positive T cells relative to the total number of T cells. HP:0030066 Ependymoblastoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030066 SNOMEDCT_US:21589007|UMLS:C0700367|MSH:D018242|SNOMEDCT_US:715901002 A highly malignant embryonal tumor of infancy and young childhood characterized by neuroectodermal elements organized in distinctive multilayered rosettes. Ependymoblastomas are large lesions that occur in the supratentorial compartment, typically displaying a physical connection to the ventricular system. HP:0031397 Decreased proportion of naive T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031397 Reduced proportion of naive T cells|Decreased proportion of naive thymus-derived, alpha-beta T cells An abnormally decreased proportion of naive T cells relative to the total number of T cells. HP:0030067 Peripheral primitive neuroectodermal neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030067 MSH:D018241|SNOMEDCT_US:703707001|SNOMEDCT_US:73676002|SNOMEDCT_US:253096008|UMLS:C0684337 A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone. HP:0031398 Increased proportion of naive T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031398 Elevated proportion of naive T cells|Increased proportion of naive thymus-derived, alpha-beta T cells An abnormally increased proportion of naive T cells relative to the total number of T cells. HP:0030068 Olfactory esthesioneuroblastoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030068 UMLS:C0206717|SNOMEDCT_US:68614005|MSH:D018304|SNOMEDCT_US:422886007|SNOMEDCT_US:76060004 A malignant olfactory neuroblastoma arising from the olfactory epithelium of the superior nasal cavity and cribriform plate. HP:0031399 Abnormal proportion of double-negative alpha-beta regulatory T cell biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031399 Abnormal DN Treg distribution|Abnormal CD4-negative, CD8-negative, alpha-beta regulatory T cell distribution|Abnormal double-negative alpha-beta regulatory T cell distribution|Abnormal Double negative Treg distribution An abnormal proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells. HP:0030069 Primary central nervous system lymphoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030069 UMLS:C0280803|SNOMEDCT_US:21964009|SNOMEDCT_US:307649006 Primary CNS lymphoma A form of extranodal, high-grade non-Hodgkin B-cell neoplasm, usually large cell or immunoblastic type that originates in the brain, leptomeninges, spinal cord, or eyes and typically remains confined to the CNS. HP:0030062 Craniopharyngioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030062 MSH:D003397|UMLS:C0010276|SNOMEDCT_US:189179009|SNOMEDCT_US:40009002 A benign pituitary-region neoplasm that originates from Rathke's pouch. Craniopharyngiomas are benign slow growing tumours that are located within the sellar and para sellar region of the central nervous system. HP:0031393 Abnormal proportion of CD8-positive T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031393 Abnormal proportion of CD8-positive, alpha-beta T cells|Abnormal proportion of CD8+ T cells Any abnormality in the proportion of CD8 T cells relative to the total number of T cells. HP:0030063 Neuroepithelial neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030063 MSH:D018302|UMLS:C0206715 A neoplasm composed of neural epithelium, not necessarily a neoplasm located in the neural epithelium or neuroepithelium. HP:0031394 Abnormal CD4:CD8 ratio biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031394 Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes. HP:0030064 Neurocytoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030064 UMLS:C1622510|MSH:D018306|SNOMEDCT_US:128858006 A benign brain tumor composed of neural elements which most often arise from the septum pellucidum and the walls of the lateral ventricles. HP:0030065 Primitive neuroectodermal tumor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030065 SNOMEDCT_US:55045006|UMLS:C0206663|MSH:D018242|SNOMEDCT_US:39781001|SNOMEDCT_US:699028006 Primitive neuroectodermal tumour 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. HP:0031396 Abnormal proportion of naive T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031396 Abnormal proportion of naive thymus-derived, alpha-beta T cells|Abnormal naive T cell proportion Any abnormality in the proportion of naive T cells relative to the total number of T cells. HP:0005099 Severe hydrops fetalis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005099 UMLS:C1866048 Severe hydrops HP:0005096 Distal femoral bowing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005096 UMLS:C1860107 A bending or abnormal curvature of the distal portion of the femur. HP:0030070 Central primitive neuroectodermal tumor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030070 UMLS:C3887678|SNOMEDCT_US:39781001 Central primitive neuroectodermal tumour A primitive neuroectodermal neoplasm that occurs in the central nervous system. HP:0005070 Proximal radial head dislocation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005070 UMLS:C1865570 A dislocation of the head of the radius from its socket in the elbow joint in an proximal direction. HP:0030071 Medulloepithelioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030071 SNOMEDCT_US:39005004|UMLS:C0334596|SNOMEDCT_US:715903004|MSH:D018242 A primitive neuroectodermal tumor that originates from the cells of the embryonic medullary canal. HP:0030072 Paranasal sinus neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030072 NCIT:C3262|UMLS:C0030470|SNOMEDCT_US:126675008|MSH:D010255 Neoplasm of the paranasal sinuses|Tumor of the paranasal sinuses A tumor that originates in the paranasal sinus. HP:0005072 Hyperextensibility at wrists biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005072 UMLS:C1850853 Increased wrist mobility|Increased laxity of wrists The ability of the wrist joints to move beyond their normal range of motion. HP:0030077 Bronchial neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030077 UMLS:C0006264|NCIT:C3262|MSH:D001984|SNOMEDCT_US:126705004 A tumor originating in a bronchus. HP:0030078 Lung adenocarcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030078 SNOMEDCT_US:254626006|MSH:C538231|UMLS:C0152013|NCIT:C2852 HP:0030079 Cervix cancer biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030079 SNOMEDCT_US:363354003|MSH:D002583|UMLS:C4048328|NCIT:C3262 A tumor of the uterine cervix. HP:0030073 obsolete Pharyngeal neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030073 HP:0030074 Chemodectoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030074 SNOMEDCT_US:127028003|UMLS:C0007279|MSH:D002345|SNOMEDCT_US:30699005 Chemodectomas A usually benign neoplasm originating in the chemoreceptor tissue of the carotid body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract. HP:0030075 Ductal carcinoma in situ biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030075 MSH:D002285|SNOMEDCT_US:373176000|UMLS:C0007124|SNOMEDCT_US:278053004|SNOMEDCT_US:109889007|SNOMEDCT_US:86616005 Presence of abnormal cells inside a milk duct, that is, non-invasive breast cancer. Ductal carcinoma in situ is considered to be a precursor lesion to invasive breast cancer. HP:0030076 Lobular carcinoma in situ biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030076 UMLS:C0279563|MSH:D000071960|SNOMEDCT_US:109888004 HP:0006397 Lateral displacement of patellae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006397 UMLS:C1860156 HP:0005066 Cone-shaped epiphyses fused within their metaphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005066 UMLS:C4025255 Cone-shaped end part of long bone fused within their wide portion of wide bone HP:0006398 Flat distal femoral epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006398 UMLS:C4021599 Flattened distal femoral epiphyses|Flat end part of outermost thighbone An abnormal flattening of the distal epiphysis of femur. HP:0005067 Proximal fibular overgrowth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005067 UMLS:C2673395 Overgrowth of innermost part of calf bone Overgrowth of the proximal part of the fibula. HP:0005068 Absent styloid process of ulna biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005068 UMLS:C4025254 HP:0005069 Rhizo-meso-acromelic limb shortening biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005069 UMLS:C2673654 HP:0005063 Fragmented, irregular epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005063 UMLS:C1867494 Fragmented, irregular end part of bone HP:0006394 Limited pronation/supination of forearm biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0006394 UMLS:C1861331 Limited pronation/supination of forearm A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation). HP:0030080 Burkitt lymphoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030080 SNOMEDCT_US:397400006|SNOMEDCT_US:277571004|UMLS:C0006413|SNOMEDCT_US:77381001|SNOMEDCT_US:22197008|MSH:D002051|SNOMEDCT_US:118617000 A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. HP:0030081 Punctate periventricular T2 hyperintense foci biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030081 UMLS:C4022658 Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter. HP:0030082 Abnormal drinking behavior biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030082 UMLS:C4022657 Abnormal drinking behaviour|Abnormal drinking behavior Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption. HP:0030083 Salt craving biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030083 UMLS:C0240928 Salt craving An excessive desire to eat salt (sodium chloride) or salty foods. HP:0030088 Increased serum testosterone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030088 UMLS:C0241358|UMLS:C4072885 High serum testosterone levels|Increased serum testosterone levels|High serum testosterone level|Increased testosterone An elevated circulating testosterone level in the blood. HP:0030089 Abnormal muscle fiber protein expression biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030089 UMLS:C4022653 Abnormal muscle fibre protein expression An anomalous amount of protein present in or on the surface of muscle fibers. This feature may be appreciate upon immunohistochemical investigation of muscle biopsy tissue. HP:0030084 Clinodactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030084 SNOMEDCT_US:17268007|UMLS:C4280304|UMLS:C0265610 Curvature of digit|Permanent curving of the finger An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). HP:0030085 Abnormal CSF lactate level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030085 UMLS:C4022656 Abnormal concentration of lactate in the cerebrospinal fluid. HP:0030086 Reduced CSF lactate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030086 UMLS:C4022655 Hypolactatorachia Decreased concentration of lactate in the cerebrospinal fluid. HP:0030087 Abnormal serum testosterone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030087 UMLS:C0580454|UMLS:C4022654|SNOMEDCT_US:166458009 Abnormal testosterone level An anomalous concentration of testosterone in the blood. HP:0030011 Imperforate hymen biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030011 MSH:C562397|SNOMEDCT_US:65937002|UMLS:C0152436 A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina. HP:0032674 Cutaneous wound biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032674 Skin wound A cutaneous wound is a defined as a disruption of normal anatomic structure and function of the skin that occured owing to an injury of the skin. Wound healing is a dynamic, interactive processinvolving soluble mediators, blood cells, extracellularmatrix, and parenchymal cells. Wound healing has three phases: inflammation, tissue formation, and tissue remodeling, that overlap in time. HP:0031342 Duodenal arteriovenous malformation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031342 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the duodenum. HP:0032673 Focal non-convulsive status epilepticus without coma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032673 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. HP:0030012 Abnormal female reproductive system physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030012 UMLS:C4022678|UMLS:C4020714 Abnormal female reproductive system physiology|Abnormal female genital system physiology HP:0031343 Jejunal arteriovenous malformation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031343 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the jejunum. HP:0032676 Chronic cutaneous wound biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032676 Chronic nonhealing cutaneous wound A cutaneous wound that has failed to proceed through the orderly and timely process to produce an atomic and functional integrity, or proceeded through the repair process without establishing a sustained anatomic and functional result. HP:0031344 Pelvic arteriovenous malformation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031344 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the pelvis. HP:0030013 obsolete Endometriosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030013 HP:0031345 Colonic arteriovenous malformation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031345 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the colon. HP:0030014 Female sexual dysfunction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030014 UMLS:C1112442 A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity HP:0032675 Acute cutaneous wound biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032675 A cutaneous wound that is proceeding through an orderly and timely reparative process that results in sustained restoration of the anatomic and functional integrity of the skin. HP:0032670 Tonic status epilepticus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032670 Tonic status epilepticus is a type of status epilepticus characterized by focal or bilateral limb stiffening or elevation, which may be electrographically generalized or focal. HP:0031340 Abnormal lysosomal morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031340 A structural anomaly of lysosomes, membrane-enclosed organelles that contain an array of enzymes capable of catabolizing proteins, nucleic acids, carbohydrates, and lipids. HP:0032672 Autonomic status epilepticus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032672 Autonomic status epilepticus is a type of non-convulsive status epilepticus without coma with prominent autonomic features regardless of whether it is electrographically generalized or focal. HP:0031341 Gastric arteriovenous malformation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031341 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the stomach. HP:0032671 Non-convulsive status epilepticus without coma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032671 A type of status epilepticus without prominent motor symptoms in the absence of coma. HP:0030010 Hydrometrocolpos biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030010 UMLS:C0269209|SNOMEDCT_US:60023006 Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina. HP:0030019 Increased female libido biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030019 UMLS:C4022675 Increased female sex drive Elevated sexual desire in female HP:0030015 Female anorgasmia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030015 UMLS:C0033948|SNOMEDCT_US:60103007|UMLS:C4022677 Female orgasmic disorder The persistent of recurrent difficulty, delay in, or absence of attaining orgasm following sufficient sexual stimulation and arousal. HP:0031346 Rectal arteriovenous malformation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031346 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the rectum. HP:0032678 Eyelid myoclonia seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032678 An eyelid myoclonia seizure is a type of generalized myoclonic seizure which may or may not be associated with loss of awareness. HP:0031347 Uterine arteriovenous malformation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031347 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the uterus. HP:0032677 Generalized-onset motor seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032677 Generalized onset motor seizure|Generalised-onset motor seizure|Generalised 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. HP:0030016 Dyspareunia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030016 SNOMEDCT_US:71315007|MSH:D004414|UMLS:C1384606 Recurrent or persistent genital pain associated with sexual intercourse. HP:0031348 Dextrotransposition of the great arteries biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031348 Fyler:0700|Fyler:700 D-TGA|D-loop transposition of the great arteries A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA. HP:0030017 Vaginismus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030017 MSH:D052065|UMLS:C2004487|SNOMEDCT_US:79012001 Myalgia of pelvic floor|Pelvic floor myalgia Recurrent or persistent involuntary spasms of the musculature of the outer third of the vagina that interferes with vaginal penetration, and which causes personal distress. HP:0030018 Decreased female libido biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030018 UMLS:C4022676 Decreased female sex drive Dminished sexual desire in female. HP:0032679 Focal non-motor seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032679 Partial seizure without motor onset|Focal seizure without motor onset A type of focal-onset seizure characterized by non-motor signs or symptoms (or behaviour arrest) as its initial semiological manifestation. HP:0031349 Levotransposition of the great arteries biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031349 L-TGA A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the left of the pulmonary artery. HP:0032685 Focal cognitive seizure with auditory agnosia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032685 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. HP:0031353 Otitis media with effusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031353 Fluid behind eardrum Otitis media characterized by thick or sticky fluid behind the tympanic membrane. HP:0030022 Question mark ear biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030022 UMLS:C3888103 Question mark ear|Cosman ear|Question mark ears|Constricted ear Cleft between the helix and the lobe. HP:0030023 Quelprud nodule biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030023 UMLS:C4022673 Small cartilaginous prominence on the posterior concha. HP:0031354 Sleep onset Insomnia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031354 Difficulty initiating sleep, that is, increased sleep onset latency. HP:0032684 Focal aware cognitive seizure with auditory agnosia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032684 A focal cognitive seizure with auditory agnosia characterized by retained awareness throughout the seizure. HP:0032687 Focal cognitive seizure with memory impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032687 Amnestic seizure|Amnestic aura A focal cognitive seizure characterized by transient memory impairment as the initial semiological manifestation whilst other cognitive functions and awareness are preserved at seizure onset. The memory impairment may be an inability to recall events occurring prior to the seizure (retrograde amnesia), or failure to encode new memories for events occurring during the seizure (anterograde amnesia). HP:0030024 Pretragal ectopia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030024 SNOMEDCT_US:204245004|UMLS:C0266609 Accessory Tragus|Pretragal Duplication|Extra cartilage in front of the ear Variably shaped, cartilage-containing tissue anterior to the external auditory meatus. HP:0031355 Maintenance insomnia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031355 Abnormal difficulty in staying asleep. Affected individuals tend to wake up at night and have difficulty returning to sleep. HP:0031356 Terminal insomnia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031356 Late insomnia A type of insomnia characterized by waking up (too) early in the morning. HP:0032686 Focal aware cognitive seizure with memory impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032686 A focal cognitive seizure with memory impairment characterized by retained awareness throughout the seizure. HP:0030025 Auricular pit biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030025 UMLS:C4022672 Small indentation in the lower part of the ascending helix, concha, or in the crus helix. HP:0032681 Focal aware cognitive seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032681 A focal aware cognitive seizure during which awareness is retained throughout the seizure. HP:0032680 Focal cognitive seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032680 Partial cognitive seizure|Psychic auras|Cognitive seizure|Cognitive aura 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. HP:0031350 Cardiac sarcoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031350 A malignant soft tissue neoplasm that arises from the heart. HP:0032683 obsolete Focal aware cognitive seizure with impaired attention biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032683 HP:0031351 Calcified amorphous tumor of the heart biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031351 Calcified amorphous tumour of the heart A non-neoplastic cardiac tumor characterized by calcification and eosinophilic amorphous material in the background of dense collagenous fibrous tissue. HP:0032682 Focal aware non-motor seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032682 Focal non-motor aware seizure A focal non-motor seizure in which awareness is retained throughout the seizure. HP:0031352 Chest tightness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031352 Tightness in chest An unpleasant sensation of tightness or pressure in the chest. HP:0030021 Auricular tag biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030021 UMLS:C4022674 Small protrusion within the pinna. HP:0032689 Focal cognitive seizure with dissociation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032689 A focal cognitive seizure characterized by an experience of being disconnected from, though aware of, self or environment as the initial semiological manifestation. HP:0030026 Squared superior portion of helix biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030026 UMLS:C4022671 Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual. HP:0031357 Glomeruloid hemangioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031357 A histologically distinctive, cutaneous, benign vascular tumor that is characterized by a solitary or multiple blue-red papules and histologically resembles renal glomeruli. HP:0030027 Abnormality of the nasal cartilage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030027 UMLS:C4022670 Anomaly of nasal cartilage|Abnormality of cartilage of nose|Malformation of cartilage of nose|Abnormality of the nasal cartilage|Deformity of cartilage of nose|Deformity of nasal cartilage|Anomaly of cartilage of nose|Malformation of nasal cartilage A morphological anomaly of the nasal cartilage. HP:0031358 Vegetative state biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031358 Absence of wakefulness and conscience, but (in contrast to coma) with involuntary opening of the eyes and movements (such as teeth grinding, yawning, or thrashing of the extremities). HP:0032688 Focal aware cognitive seizure with dissociation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032688 A focal cognitive seizure with dissociation characterized by retained awareness throughout the seizure. HP:0030028 Absent nasal cartilage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030028 MSH:C562753|UMLS:C4082198|UMLS:C4022669|SNOMEDCT_US:232381002 Missing cartilage of nose|Failure of development of nasal cartilage|Agenesis of cartilage of nose|Missing nasal cartilage|Absent cartilage of nose|Agenesis of nasal cartilage|Failure of development of cartilage of nose|Absent nasal cartilage Lack of a palpable nasal cartilage. HP:0031359 Cutaneous sclerotic plaque biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031359 A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter that is characterized by hardening (sclerosis) of the affected skin area (related to collagen thickening). HP:0030029 Splayed fingers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030029 UMLS:C4021057 Splayed fingers|Spreading of the fingers Divergence of digits along the A/P axis (in the plane of the palm). HP:0032690 Focal aware cognitive seizure with dyscalculia/acalculia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032690 A focal cognitive seizure with dyscalculia and or acalculia characterized by retained awareness throughout the seizure. HP:0032696 Focal cognitive seizure with receptive dysphasia/aphasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032696 A focal cognitive seizure characterized by receptive dysphasia / aphasia as the initial semiological manifestation. HP:0031364 Ecchymosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031364 Ecchymoses A purpuric lesion that is larger than 1 cm in diameter. HP:0030033 Small finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030033 UMLS:C0575827|SNOMEDCT_US:299058009 Small finger Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual. HP:0030034 Glomerular basement membrane lamellation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030034 UMLS:C3278307 Lamellation of the glomerular basement membrane|Lamellated/basket-woven thickened glomerular basement membranes Presence of abnormal additional layers of the basement membrane of the glomerulus. HP:0031365 Macular purpura biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031365 Flat purpura Purpura that is flat (non-palpable, not raised). HP:0032695 obsolete Illusory auras biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032695 HP:0030035 Struvite nephrolithiasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030035 UMLS:C4021056 Struvite kidney stones Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones). HP:0031366 Palate neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031366 A neoplasm that affects the hard palate, soft palate, or uvula. HP:0032698 Focal cognitive seizure with conduction dysphasia/aphasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032698 A focal cognitive seizure characterized by conduction dysphasia / aphasia as the initial semiological manifestation. HP:0032697 obsolete Focal cognitive seizure with deja vu/jamais vu biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032697 A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation. HP:0031367 Metaphyseal striations biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031367 Striated metaphysis Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis). HP:0030036 Isothenuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030036 UMLS:C4022665 Inability of the kidneys to produce either concentrated or dilute urine. HP:0031360 Yellow skin plaque biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031360 A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter and that has a yellow color. HP:0032692 Focal cognitive seizure with forced thinking biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032692 A focal cognitive seizure characterized by forced thinking as the initial semiological manifestation. HP:0031361 Zebra bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031361 Intralysosomal, osmiophilic, lamellated and sometimes concentric cytoplasmic inclusions comprised of broad transversely-stacked myelinoid membranes and said to resemble a zebra in electron microscopic images. HP:0030030 Absent ray biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030030 UMLS:C4022668 The absence of all phalanges of a digit and the associated metacarpal /metatarsal. HP:0032691 Focal cognitive seizure with dyscalculia/acalculia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032691 A focal cognitive seizure characterized by dyscalculia / acalculia as the initial semiological manifestation. HP:0031362 Sex-limited autosomal recessive inheritance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031362 A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes in a sex-specific manner (i.e. only in males or only in females). HP:0030031 Small toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030031 UMLS:C4022667 Small toe Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual. HP:0032694 Focal cognitive seizure with dyslexia/alexia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032694 A focal cognitive seizure characterized by dyslexia / alexia as the initial semiological manifestation. HP:0031363 Palpable purpura biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031363 A type of purpura in which the lesions are raised (and can therefore be appreciated upon palpation). HP:0030032 Partial absence of foot biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030032 UMLS:C4022666 Partial absence of foot An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals. HP:0032693 Focal cognitive seizure with neglect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032693 A focal cognitive seizure characterized by neglect as the initial semiological manifestation. HP:0030037 Bifid ureter biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030037 UMLS:C3887498 Incomplete duplication of the ureter. HP:0031368 Intestinal perforation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031368 A hole (perforation) in the wall of the intestine. HP:0030038 Enchondroma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030038 SNOMEDCT_US:31186001|UMLS:C1704356|MSH:D002812|SNOMEDCT_US:423699002 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. HP:0031369 Colon perforation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031369 Perforation of the colon A hole (perforation) in the wall of the colon. HP:0032699 Focal cognitive seizure with dysgraphia/agraphia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032699 A focal cognitive seizure characterized by dysgraphia / agraphia as the initial semiological manifestation. HP:0030039 Fused thoracic vertebrae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030039 UMLS:C4022664 A congenital anomaly characterized by a joining (fusion) of two or more thoracic vertebral bodies with one another. HP:0031370 Small intestinal perforation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031370 A hole (perforation) in the wall of the small intestine. HP:0030044 Flexion contracture of digit biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030044 UMLS:C1839864 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. HP:0031375 Refractory biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031375 Applies to a sign or symptom that is difficult to treat or cure. HP:0030045 Serpentine fibula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030045 UMLS:C3805325 S-shaped calf bone Elongated curved (S-shaped) fibulae. HP:0030046 Hypoglycosylation of alpha-dystroglycan biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030046 UMLS:C4015098 A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue. HP:0031377 Abnormal cell proliferation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031377 Any abnormality in the multiplication or reproduction of cells, which may result in the expansion of a cell population. HP:0030047 Abnormality of lateral ventricle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030047 UMLS:C4022662 A morphological anomaly of the lateral ventricle. HP:0031378 Abnormal lymphocyte proliferation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031378 Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population. HP:0031371 Rectal perforation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031371 A hole (perforation) in the wall of the rectum. HP:0030040 Fused lumbar vertebrae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030040 UMLS:C4022663 A congenital anomaly characterized by a joining (fusion) of two or more lumbar vertebral bodies with one another. HP:0031372 Cold paresis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031372 Increased muscle weakness upon exposure to cold temperatures. HP:0030041 Schmorl's node biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030041 SNOMEDCT_US:45181002|UMLS:C0410632 Schmorl's nodes A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra. HP:0031373 Stiff tongue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031373 Tongue stiffness Increased rigidity and reduced mobility of the tongue. HP:0030042 Incomplete ossification of pubis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030042 SNOMEDCT_US:373940002|UMLS:C0685678 Incomplete maturation of the pubic bone Failure to complete ossification (maturation and calcification) of the pubic bone. HP:0031374 Ankle weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031374 Reduced strength of the muscles that lift or otherwise move the foot at the ankle. HP:0030043 Hip subluxation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030043 SNOMEDCT_US:263057000|UMLS:C0434785 Subluxation involving the hip joint|Partial hip dislocation A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket. HP:0030048 Colpocephaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030048 SNOMEDCT_US:253160006|UMLS:C0431384|MSH:C535973 Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles. HP:0031379 Abnormal T cell proliferation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031379 Any abnormality in the multiplication or reproduction of T cells, which results in the expansion of a cell population. HP:0030049 Brain abscess biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030049 SNOMEDCT_US:441806004|UMLS:C0006105|MSH:D001922 Brain abscess A collection of pus, immune cells, and other material in the brain. HP:0032630 Intratubular light-chain casts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032630 The presence of casts containing immunoglobulin light chains within the lumina of the renal tubules. HP:0032632 Renal papillary necrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032632 Premature death of cells in the renal papilla (the apex of a renal pyramid which projects into the cavity of a calyx of the kidney and through which collecting ducts discharge urine). Histologically, one observes pale tissue with typical appearance of coagulative necrosis, affecting the renal papillae. Necrosis can be identified by pyknotic nuclei and simplified, flattened epithelium of proximal tubules. The tubular and glomerular basement membranes are still visible without viable nuclei. HP:0031300 Abnormal circulating properdin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031300 A deviation from the normal concentration of properdin in the blood. HP:0031301 Peripheral arterial calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031301 Peripheral artery calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall. HP:0032631 Intratubular hemoglobin casts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032631 Intratubular haemoglobin casts A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. On H&E (red granular), PAS (purple), trichrome (red granular), Hall (yellow brown). Stain positively for Hemoglobin A. HP:0006339 Conical mandibular incisor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006339 UMLS:C4280449|UMLS:C4280450|UMLS:C4020818 Pointed mandibular incisor|Conoid mandibular incisor|Pointed mandibular incisors|Lower front shark tooth|Peg shaped lower front tooth|Peg shaped mandibular incisor|Cone shaped lower front tooth An abnormal conical morphology of the primary or permanent mandibular incisors. HP:0005008 Large joint dislocations biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005008 UMLS:C4025260 Large joint dislocations HP:0032638 Elevated urine mevalonic acid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032638 Elevated urine mevalonate|Mevalonate aciduria|Elevated urine mevalonate levels An abnormally increased amount of mevanolate in the urine. Mevanolate is that hydroxy monocarboxylic acid anion that is the conjugate base of mevalonic acid. HP:0031306 Intracranial arterial calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031306 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in an artery that is located within the skull (intracranial). HP:0032637 Renal interstitial edema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032637 Renal interstitial oedema Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density. HP:0005009 Dumbbell-shaped humerus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005009 UMLS:C4025259 Dumbbell-shaped long bone in upper arm The humerus is shortened and displays flaring (widening) of the metaphyses. HP:0031307 Internal carotid artery calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031307 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the internal carotid artery. HP:0031308 Vertebral artery calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031308 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the vertebral artery. HP:0032639 Elevated leukocyte cystine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032639 An increased concentration of cystine within white blood cells. HP:0031309 Cerebral artery calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031309 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a cerebral artery. HP:0006335 Persistence of primary teeth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006335 SNOMEDCT_US:57650002|UMLS:C0266050 Deciduous teeth retention|Persistent primary dentition|Retained baby teeth|Failure to lose baby teeth|Failure to exfoliate primary teeth|Failure to exfoliate deciduous teeth|Retained deciduous teeth|Persistence of deciduous teeth|Delayed loss of deciduous teeth|Persistent primary teeth|Delayed loss of baby teeth|Retained primary teeth|Persistent deciduous dentition|Delayed loss of primary teeth Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth. HP:0032634 Intratubular myoglobin cast biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032634 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. HP:0007667 Peripheral cystoid retinal degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007667 UMLS:C1839362 Cystic retinal degeneration|Peripheral cystoid degeneration Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is very common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly. HP:0031302 Lower extremity peripheral arterial calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031302 Lower extremity peripheral artery calcification An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the leg. HP:0005004 Flattened proximal radial epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005004 UMLS:C1849065 An abnormally flat form of the proximal epiphysis of the radius. HP:0008998 Pectoralis hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008998 UMLS:C1846477 Small pec muscle|Hypoplastic pectoral muscle|Underdeveloped pec muscle Underdevelopment of the pectoral muscle. HP:0005005 Femoral bowing present at birth, straightening with time biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005005 UMLS:C1833754 Bowing of thighbone at birth, straightening with time Congenital onset bending or abnormal curvature of the femur that normalizes with age. HP:0031303 Femoral arterial calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031303 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the femoral artery. HP:0006336 Short dental roots biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006336 UMLS:C2678330 Decreased length of dental roots|Decreased length of tooth roots|Underdeveloped dental roots|Short dental roots|Underdeveloped tooth roots|Short tooth roots Short dental root. HP:0008997 Proximal muscle weakness in upper limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008997 UMLS:C1866012 A lack of strength of the proximal muscles of the arms. HP:0032633 Intratubular hyaline casts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032633 Intratubular Tamm-Horsfall (uromodulin) casts A type of acellular urinary cast located within the distal tubules of the kidney and that is composed only of Tamm-Horsfall glycoprotein. Correspondingly, these casts have a low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends. HP:0032636 Tubulointerstitial viral infiltration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032636 Renal tubulointerstitial viral inclusions Infiltration of viruses into renal tubulointerstitial tissues as demonstrated on renal biopsy by viral inclusions which can be seen on routine stains or with immunohistochemistry. HP:0006337 Premature eruption of permanent teeth biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0006337 UMLS:C4021601 Premature eruption of adult teeth|Early eruption of adult teeth|Early eruption of permanent teeth|Precocious eruption of secondary teeth|Precocious eruption of secondary dentition Premature tooth eruption of the permanent dentition. HP:0031304 Iliac arterial calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031304 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the iliac artery. HP:0006338 Malformation of mandibular premolar biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006338 UMLS:C4025061 Malformation of lower premolar|Malformation of mandibular bicuspid An abnormality of the morphology of secondary premolar tooth. HP:0031305 Tibial arterial calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031305 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the tibial artery. HP:0032635 Tubulointerstitial microganismal infiltration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032635 Infiltration of microorganisms into renal tubulointerstitial tissues as observed by appropriate staining procedures, e.g., bacteria on a bacterial stain (Brown and Hopps) or fungi on PAS or silver stain. HP:0007668 Impaired pursuit initiation and maintenance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007668 UMLS:C1969722 HP:0007663 Reduced visual acuity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007663 UMLS:C0234632|SNOMEDCT_US:13164000 Decreased central vision|Poor visual acuity|Decreased visual acuity|Decreased clarity of vision HP:0008994 Proximal muscle weakness in lower limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008994 UMLS:C1866010 Muscle weakness, proximal, lower limbs A lack of strength of the proximal muscles of the legs. HP:0005001 Recurrent patellar dislocation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005001 UMLS:C0409412|SNOMEDCT_US:202246002 Recurrent dislocation of patellas Patellar dislocation occurring repeated times. HP:0008993 Increased intraabdominal fat biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008993 UMLS:C1835390 An abnormal increase in the amount of intraabdominal fat tissue. HP:0006332 Supernumerary maxillary incisor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006332 UMLS:C4025062 Extra upper front tooth The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor. HP:0006333 Crowded maxillary incisors biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006333 UMLS:C4021602 Crowded upper incisors|Overlapped upper front teeth|Overlapped maxillary incisors|Crowded upper front teeth A type of dental misalignment with crowded central incisors, i.e., of maxillary secondary incisor, or of maxillary central primary incisor. HP:0007665 Curly eyelashes biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0007665 UMLS:C2673670 Curly eyelashes Abnormally curly or curved eyelashes. HP:0006334 Hypoplasia of the primary teeth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006334 UMLS:C1855694 Underdevelopment of milk teeth|Decreased size of milk teeth|Small baby teeth|Decreased size of deciduous teeth|Small primary teeth|Underdevelopment of baby teeth|Decreased size of baby teeth|Hypoplastic deciduous teeth|Underdevelopment of primary teeth|Small milk teeth|Decreased size of primary teeth Developmental hypoplasia of the primary teeth. HP:0005003 Aplasia/Hypoplasia of the capital femoral epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005003 UMLS:C4025261 Absent/underdeveloped end part of innermost thighbone|Absent/small end part of innermost thighbone Absence or underdevelopment of the proximal epiphysis of the femur. HP:0007661 Abnormality of chorioretinal pigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007661 UMLS:C4024819 HP:0006330 Rotated maxillary central incisors biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006330 UMLS:C4025063 Twisted upper front teeth|Rotated upper front teeth|Rotated upper central incisors|Turned upper front teeth HP:0008991 Exercise-induced leg cramps biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008991 UMLS:C4024607 Sudden and involuntary contractions of one or more muscles of the leg brought on by physical exertion. HP:0032641 Renal interstitial granulomas biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032641 Renal interstitial granulomata Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present. HP:0031310 Basilar artery calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031310 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the basilar artery. HP:0032640 Elevated circulating CCL18 level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032640 Increased C-C motif chemokine ligand 18 concentration An increased concentration of C-C motif chemokine ligand 18 in the blood circulation. HP:0031311 Middle cerebral artery calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031311 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the middle cerebral artery. HP:0032643 Renal interstitial non-necrotizing granulomas biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032643 Renal interstitial non-necrotizing granulomata Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis. HP:0032642 Renal interstitial necrotizing granulomas biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032642 Renal interstitial necrotizing granulomata An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation. HP:0005019 Diaphyseal thickening biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005019 UMLS:C1835473 Thickening of shaft or central part of long bones HP:0031317 Fatty replacement of ventricular myocardial tissue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031317 Intramyocardial fat infiltration|Fatty infiltration of cardiac ventricle Presence of an increased amount of fat tissue within a cardiac ventricle with corresponding reduction of muscle tissue. HP:0032649 Skewfoot biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032649 Skew foot|Skew-foot A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occurunder the metatarsal heads and thehead of the plantar-flexed talus. HP:0032648 Tubularization of Bowman capsule biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032648 The presence of cuboidal to columnar epithelium (height greater than width) lining the Bowman capsule, in an absence of adjacent segmental sclerosis, crescents, or collapsing variant of focal segmental glomerulosclerosis; scored as present or absent in at least one glomerulus. HP:0031318 Myofiber disarray biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031318 Myocardial fiber disarray A nonparallel arrangement of cardiac myocytes. HP:0031319 Cardiomyocyte hypertrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031319 Myocyte cellular hypertrophy An abnormal increase in the volume of cardiac myocytes. HP:0007678 Lacrimal duct stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007678 UMLS:C0238300|SNOMEDCT_US:231841004 Nasolacrimal duct stenosis|Narrowing of the tear duct Narrowing of a tear duct (lacrimal duct). HP:0032645 Renal interstitial mononuclear cell infiltration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032645 Presence of interstitial mononuclear leukocytes, i.e., white blood ceclls with a single round nucleus, including lymphocytes and monocytes but not including granulocytes (which have multilobed nuclei). HP:0006346 Screwdriver-shaped incisors biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006346 UMLS:C4025058 Screwdriver shaped front teeth|Screwdriver-shaped incisors An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape. HP:0031313 Abdominal aortic calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031313 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in abdominal aorta. HP:0007677 Vitelliform-like macular lesions biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007677 UMLS:C0339510|MSH:D057826|SNOMEDCT_US:90036004|UMLS:C4024817 Vitelliform macular lesions|Vitelliform macular dystrophy Vitelliform maculopathy is a sharply demarcated lesion caused by the accumulation of material, often lipofuscin in the subretinal space underlying the macula. HP:0031314 Carotid artery calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031314 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a carotid artery. HP:0006347 Microdontia of primary teeth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006347 UMLS:C1855694|UMLS:C1856203 Decreased width of deciduous teeth|Microdontia of deciduous teeth|Decreased size of primary tooth|Decreased width of milk teeth|Small deciduous teeth|Decreased width of primary tooth|Decreased width of baby teeth Decreased size of the primary teeth. HP:0032644 Renal interstitial deposits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032644 Abnormal accumulation of a metabolite, protein, or protein-derived substance in the interstitial region of the kidney. HP:0031315 External carotid artery calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031315 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the external carotid artery. HP:0032647 Renal tubular epithelial cell apoptosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032647 Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells arre rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris. HP:0005017 Polyarticular chondrocalcinosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005017 UMLS:C4025258 HP:0006349 Agenesis of permanent teeth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006349 SNOMEDCT_US:109444001|UMLS:C1290511|SNOMEDCT_US:234948008|UMLS:C0457756|MSH:C563203 Absent permanent teeth|Agenesis of permanent dentition|Failure of development of permanent teeth|Missing teeth|Failure of development of secondary teeth|Absence of permanent teeth|Agenesis of secondary dentition A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth. HP:0031316 Abnormal ventricular myocardium morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031316 A structural anomaly of the muscle layer of the heart wall of a cardiac ventricle. HP:0032646 Renal interstitial xanthogranulomatous inflammation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032646 Inflammation of interstitial tissues of the kidney consisting of foamy macrophages admixed with plasma cells, lymphocytes and neutrophils and occasional giant cells. HP:0005011 Mesomelic arm shortening biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005011 UMLS:C1862087 Mesomelia of the upper limbs|Upper limb brachymesomelia Shortening of the middle parts of the arm in relation to the upper and terminal segments. HP:0006342 Peg-shaped maxillary lateral incisors biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006342 UMLS:C4025060 Cone shaped upper lateral incisors|Conical maxillary lateral incisors|Conoid upper lateral incisors|Peg shaped upper lateral incisors|Pointed upper lateral incisors|Peg laterals Peg-shaped upper lateral secondary incisor tooth. HP:0006344 Abnormality of primary molar morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006344 UMLS:C4025059 Abnormality of deciduous molar morphology|Abnormality of shape of baby molar|Abnormality of shape of primary molar An abnormality of morphology of primary molar. HP:0007676 Hypoplasia of the iris biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0007676 SNOMEDCT_US:95714006|UMLS:C0344539 Underdeveloped iris|Hypoplastic iris|Iris hypoplasia Congenital underdevelopment of the iris. HP:0005013 Dysplastic distal radial epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005013 UMLS:C1862131 Abnormally developed (dysplastic) distal epiphysis of the radius. HP:0007675 Progressive night blindness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007675 UMLS:C4024818 Progressive night blindness HP:0007670 Abnormal vestibulo-ocular reflex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007670 UMLS:C4021571 Abnormal vestibuloocular reflex An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude. HP:0005010 Osteomyelitis leading to amputation due to slow healing fractures biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005010 UMLS:C1864975 HP:0032652 Elevated CSF chitotriosidase 1 level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032652 Increased concentration of chitotriosidase 1 in cerebrospinal fluid. HP:0031320 Cardiomyocyte mitochondrial proliferation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031320 An abnormal increase in the number of mitochondria per cardiac myocyte. HP:0031321 Myocardial immune cell infiltration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031321 An increase in the number of immune cells in myocardial tissue (which can be assumed to have migrated into the myocardium). HP:0032651 Elevated CSF chitinase-3-like protein 1 level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032651 Increased concentration of chitinase-3-like protein 1 in cerebrospinal fluid. HP:0032654 Impaired flow-mediated arterial dilatation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032654 Endothelial dysfunction Flow-mediated dilatation is a noninvasive tests of endothelial function that leverages ultrasound to measure arterial diameter and its response to an increase in shear stress, which normally causes endothelium-dependent dilatation. This term pertains to an abnormal reduction in the magnitude of dilatation. Flow-mediated dilatation is usually measured at the brachial artery. HP:0031322 Myocardial lymphocytic infiltration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031322 An increase in the number of lymphocytes in myocardial tissue. HP:0031323 Myocardial eosinophilic infiltration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031323 An increase in the number of eosinophils in myocardial tissue. HP:0032653 Elevated lactate:pyruvate ratio biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032653 An abnormal increase in the molar ratio of lactate to pyruvate in the blood circulation. HP:0032650 Elevated CSF glial fibrillary acidic protein level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032650 Increased concentration of glial fibrillary acidic protein in cerebrospinal fluid. HP:0031328 Perivascular cardiac fibrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031328 A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in perivascular spaces. HP:0007649 Congenital hypertrophy of retinal pigment epithelium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007649 SNOMEDCT_US:232074003|UMLS:C0339555 Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium. HP:0031329 Interstitial cardiac fibrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031329 A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces. HP:0032659 Non-convulsive status epilepticus with coma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032659 Subtle status epilepticus A type of status epilepticus without prominent motor symptoms and in the presence of coma. HP:0007648 Punctate cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007648 UMLS:C1969675|SNOMEDCT_US:40714009|UMLS:C0271165 Punctate lenticular opacities A type of cataract with punctate opacities of the lens. HP:0031324 Myocardial multinucleated giant cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031324 The presence of extremely large cells with multiple nuclei. The so-called giant cells are thought to be of macrophage origin. HP:0032656 Febrile status epilepticus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032656 Fever-induced status epilepticus A seizure lasting 30 minutes without fully regaining consciousness, provoked by fever (temperature greater than 38.0 degrees Celcius) at the time of seizure-onset, without a prior history of afebrile seizure and with no evidence of an acute central nervous system infection or insult. HP:0006313 Widely spaced primary teeth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006313 UMLS:C4021603 Wide gaps between primary teeth|Widely spaced milk teeth|Widely spaced baby teeth|Generalized spacing of primary teeth|Wide gaps between baby teeth|Widely spaced deciduous teeth Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia. HP:0031325 Myocardial granulomatous infiltrates biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031325 The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the myocardium. HP:0032655 Decreased adipose tissue tocopherol level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032655 A reduced concentration of tocopherol in fat tissue. HP:0006315 Single median maxillary incisor biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0006315 UMLS:C1840235|SNOMEDCT_US:707609006|MSH:C537342 Single maxillary central incisor|Only one upper front tooth|Single central upper incisor|Solitary median maxillary central incisor|Solitary midline maxillary central incisor|Single median incisor|Single median maxillary central incisor|Single midline upper front tooth|Solitary median maxillary central incisor syndrome|Single midline maxillary incisor|Single central incisor The presence of a single, median maxillary incisor, affecting both the primary maxillary incisor and the permanent maxillary incisor. HP:0032658 Status epilepticus with prominent motor symptoms biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032658 Status epilepticus with prominent motor signs during the prolonged seizure. HP:0031326 Monoclonal light chain cardiac amyloidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031326 A type of cardiac amyloidosis related to deposition of an immunoglobulin light chain. The current gold standard of amyloid typing is to determine the precursor protein using laser microdissection mass spectrometry. HP:0007647 Congenital extraocular muscle anomaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007647 UMLS:C4024823 Congenital abnormality of the extraocular muscles. HP:0008978 Necrotizing myopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008978 UMLS:C4024608 HP:0007646 Absent lower eyelashes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007646 UMLS:C4024824 Atrichia of lower eyelashes|Aplasia of lower eyelashes|Agenesis of lower eyelashes|Absent lower eyelashes|Failure of development of lower eyelashes Lack of eyelashes on the lower lid. HP:0006316 Irregularly spaced teeth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006316 UMLS:C1845878 Variability of spacing between teeth|Irregular dental spacing|Irregularly spaced teeth|Variability of dental spacing Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth. HP:0031327 Transthyretin cardiac amyloidosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031327 TTR cardiac amyloidosis A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining. HP:0032657 Elevated circulating lyso-globotriaosylsphingosine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032657 An abnormal increase in the level of globotriaosylsphingosine (Lyso-Gb3) in the blood circulation. HP:0007641 Dyschromatopsia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007641 UMLS:C0858618 Color blindness|Colour blindness A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments. HP:0008972 Decreased activity of mitochondrial respiratory chain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008972 UMLS:C4024609|UMLS:C1835995|UMLS:C3276441 Decreased activities of mitochondrial-encoded respiratory chain complexes|Decreased activity of mitochondrial respiratory complexes Decreased activity of the mitochondrial respiratory chain. HP:0006311 Generalized microdontia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006311 UMLS:C4025065 Decreased width of all teeth|Hypotrophy of all teeth|Generalised microdontia|Decreased size of all teeth|Decreased tooth mass|Tooth mass insufficiency A generalized form of microdontia. HP:0007643 Peripheral tractional retinal detachment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007643 UMLS:C4024825 Peripheral traction retinal detachment|Tractional retinal detachment at the periphery of the retina Tractional retinal detachment at the periphery of the retina. HP:0007642 Congenital stationary night blindness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007642 UMLS:C3551052|UMLS:C4048798|UMLS:C0339535|SNOMEDCT_US:232061009|UMLS:C1306122|MSH:C536122|MSH:C537743|SNOMEDCT_US:193687000 Night blindness, congenital stationary, complete|Congenital night blindness|Night blindness, stationary|Static congenital hemeralopia|Night blindness, congenital|Night blindness, congenital stationary|Night blindness since birth A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset. HP:0008970 Scapulohumeral muscular dystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008970 SNOMEDCT_US:240074006|UMLS:C0410192|MSH:C562932 HP:0031331 Abnormal cardiomyocyte morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031331 Abnormal cardiac muscle cell 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. HP:0032663 Focal motor status epilepticus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032663 Status epilepticus with focal motor signs originating within networks limited to one hemisphere. Involves musculature in any form. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement. HP:0030000 EMG: repetitive nerve stimulation abnormality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030000 UMLS:C4022681 Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz. HP:0032662 Focal-onset seizure evolving into bilateral convulsive status epilepticus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032662 Secondarily generalised tonic-clonic status epilepticus|Partial onset seizure evolving into convulsive status epilepticus|Secondarily generalized tonic-clonic status epilepticus|Focal onset seizure evolving into bilateral convulsive status epilepticus|Focal-onset seizure evolving into generalized convulsive status epilepticus|Partial-onset seizure evolving into convulsive status epilepticus|Secondarily generalized convulsive status epilepticus A type of bilateral convulsive seizure of focal onset (which could be with awareness or impaired awareness, either motor or non- motor) that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus. HP:0030001 Lagopthalmos biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030001 UMLS:C4022680 Eyelids stay open|Inability to close the eyelids A condition in which the eyelids do not close to cover the eye completely. HP:0031332 Cardiomyocyte degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031332 Deterioration of cardiomyocyte characterized by abnormal features such as loss of myofilaments, occurrence of cellular sequestration, decreased mitochondrial sizes and cellular debris. HP:0032665 Repeated focal motor seizures biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032665 Jacksonian status epilepticus A type of focal motor status epilepticus characterized by repeated motor, typically clonic events repeatedly affecting the same segments of the body with spread of clonic movements through contiguous body parts unilaterally, and repeating over a sufficiently prolonged period to reach a diagnosis of status epilepticus. HP:0030002 Nocturnal lagophthalmos biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030002 UMLS:C1563118|SNOMEDCT_US:417740005 Inability to close the eyelids at night|Eyelids stay open at night The inability to close the eyelids during sleep. HP:0031333 Myocardial sarcomeric disarray biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031333 Myocardial sarcomere disarray A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and actin that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes. HP:0032664 Adversive status epilepticus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032664 A type of focal motor status epilepticus characterized by continuous neck or body rotation and conjugate gaze deviation in a direction contralateral to the responsible epileptic focus. This includes some forms of tonic status epilepticus. HP:0030003 Paralytic lagophthalmos biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030003 UMLS:C0155197|SNOMEDCT_US:59890007 A type of lagophthalmos that occurs in association with facial nerve palsy. HP:0031334 Cardiomyocyte inclusion bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031334 Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes. HP:0032661 Generalized convulsive status epilepticus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032661 Generalised convulsive status epilepticus A type of bilateral convulsive seizure of generalized onset that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus. HP:0031330 Perivascular myocardial immune cell infiltration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031330 An increase in the number of immune cells in myocardial tissue concentrated in the spaces surrounding blood vessels. HP:0032660 Convulsive status epilepticus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032660 Tonic-clonic status epilepticus A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between. comment: source: seeAlso: Tonic-clonic status epilepticus HP:0030008 Cervical agenesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030008 UMLS:C0266404|SNOMEDCT_US:37687000 Cervical aplasia|Absent cervix|Aplasia of the cervix Congenital absence of the cervix. HP:0031339 Abnormal cadiomyocyte dystrophin staining biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031339 Anomalous staining of dystrophin in cardiomyocytes. HP:0006329 Alveolar process hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006329 SNOMEDCT_US:708494003|UMLS:C4280453|UMLS:C3872671|UMLS:C4280452|UMLS:C1848905|UMLS:C4280451 Deficiency of alveolar process of jaw|Small alveolar ridge|Underdevelopment of alveolar process of jaw|Deficiency of alveolar ridge|Decreased size of alveolar process of jaw|Hypoplasia of alveolar ridge|Decreased size of alveolar ridge|Small alveolar process of jaw|Underdevelopment of alveolar ridge|Hypotrophic alveolar ridge|Hypoplastic alveolar bone|Hypotrophic alveolar process of jaw Underdevelopment of the alveolar process (also known as alveolar bone). HP:0007659 obsolete Decreased retinal pigmentation with dispersion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007659 HP:0030009 Cervical insufficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030009 SNOMEDCT_US:17382005|MSH:D002581|UMLS:C0007871 Incompetent cervix A cervix that shows a painless dilation and shortening during the second trimester of pregnancy with resultant recurrent pregnancy loss or delivery is considered incompetent HP:0030004 Cicatricial lagophthalmos biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030004 SNOMEDCT_US:9042000|UMLS:C0155199 Eyelids stay open due to scarring|Inability to close the eyelids due to scarring A type of lagophthalmos that occurs following trauma or surgery. HP:0007656 Lacrimal gland aplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007656 UMLS:C4024822 Absent tear gland A congenital defect of development characterized by absence of the lacrimal gland. HP:0031335 Abnormal cardiomyocyte mitochondrial morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031335 An anomaly of the structure of mitochondria within cardiomyocytes. HP:0032667 Myoclonic status epilepticus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032667 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. HP:0031336 Intranuclear cardiomyocyte mitochondria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031336 Abnormal localization of mitochondria within the nuclei of cardiomyocytes. HP:0030005 Capillary leak biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030005 UMLS:C0343084|UMLS:C1382398|SNOMEDCT_US:1608005|MSH:D019559|SNOMEDCT_US:87730004 Systemic capillary leak syndrome|Increased capillary permeability An acute phenomenon characterized by hypotension and anasarca due to the loss of plasma volume into peripheral tissues, with evidence of decreased plasma volume (hemoconcentration) and protein loss from the intravascular space (hypoalbuminemia) during acute episodes. HP:0008986 Agenesis of the diaphragm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008986 SNOMEDCT_US:702613006|UMLS:C0221360|SNOMEDCT_US:72424001 Absent diaphragm|Agenesis of diaphragm Congenital lack, i.e., aplasia of the diaphragm. HP:0032666 Hyperkinetic status epilepticus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032666 Status epilepticus characterized by continuous hyperkinetic proximal limb or axial muscles producing irregular sequential ballistic movements such as pedaling pelvic thrusting, thrashing, or rocking movements. HP:0007655 Eversion of lateral third of lower eyelids biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007655 UMLS:C1835801 HP:0030006 Single fiber EMG abnormality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030006 UMLS:C4022679 Single fibre EMG abnormality Abnormality in single fiber EMG recording, a technique that allows identification of action potentials (APs) from individual muscle fibers. HP:0007658 Large hyperpigmented retinal spots biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007658 UMLS:C4024820 HP:0006326 Buried teeth encased in mucopolysaccharide biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006326 UMLS:C4025064 Unerupted dentition due to mucopolysaccharidoses|Impacted teeth due to mucopolysaccharidoses|Unerupted teeth due to mucopolysaccharidoses|Failure of tooth eruption due to mucopolysaccharidoses|Failure of dental eruption due to mucopolysaccharidoses HP:0032669 Myoclonic status epilepticus with coma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032669 A type of myoclonic status epilepticus in the presence of coma. HP:0031337 Abnormal cardiomyocyte connexin43 staining biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031337 Anomalous staining of Connexin43 in cardiomyocytes. Connexin43 (Cx43) is the primary gap junction protein in the working myocardium. Cx43 exhibits increased localization at the lateral membranes of cardiomyocytes in a variety of heart diseases. HP:0031338 Abnormal cardiomyocyte plakoglobin staining biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031338 Anomalous staining of plakoglobin in cardiomyocytes. Plakoglobin is a component of desmosomes in cardiomyocytes. HP:0030007 EMG: positive sharp waves biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030007 SNOMEDCT_US:251527008|UMLS:C0429349 These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform. HP:0007657 Diffuse nuclear cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007657 UMLS:C4024821 Opacity of the entire lens nucleus. HP:0008988 Pelvic girdle muscle atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008988 UMLS:C0240679 Pelvic girdle muscle wasting Muscular atrophy affecting the muscles that attach to the pelvic girdle (the gluteal muscles, the lateral rotators, adductor magnus, adductor brevis, adductor longus, pectineus, and gracilis muscles). HP:0032668 Myoclonic status epilepticus without coma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032668 A type of myoclonic status epilepticus in the absence of coma. HP:0006321 Multiple non-erupting secondary teeth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006321 UMLS:C1848904 Multiple unerupted permanent teeth|Multiple non-erupting permanent teeth|Multiple non-erupting adult teeth|Multiple unerupted adult teeth|Failure of eruption of multiple adult teeth|Failure of eruption of multiple permanent teeth HP:0007651 Ectropion of lower eyelids biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007651 UMLS:C4020808|UMLS:C0521736|SNOMEDCT_US:95758006 Lower eyelid folded out|Everted lower eyelids|Lower eyelid turned out HP:0008985 Increased intramuscular fat biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008985 UMLS:C1835389 Increased IM fat|Increased intramuscular fat An abnormal increase in the amount of intramuscular fat tissue. HP:0007654 obsolete Retinal striation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007654 HP:0006323 Premature loss of primary teeth biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0006323 SNOMEDCT_US:122483006|SNOMEDCT_US:39034005|UMLS:C0266052 Premature loss of deciduous teeth|Premature exfoliation of deciduous teeth|Early loss of baby teeth|Premature loss of baby teeth|Premature deciduous tooth loss|Early loss of primary teeth|Early loss of deciduous teeth|Premature exfoliation of primary teeth Loss of the primary (also known as deciduous) teeth before the usual age. HP:0008984 Neck muscle hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008984 UMLS:C1969000|UMLS:C4280409|UMLS:C4280408 Deficiency of neck muscle|Hypotrophic neck muscle|Decreased size of neck muscle|Underdevelopment of neck muscle|Small neck muscle Underdevelopment of muscles of the neck. HP:0008981 Calf muscle hypertrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008981 UMLS:C1843057 Calf hypertrophy|Increased size of calf muscles|Muscular hypertrophy of the calf muscles Muscle hypertrophy affecting the calf muscles. HP:0007650 Progressive ophthalmoplegia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007650 UMLS:C2062713 HP:0006380 Knee flexion contracture biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0006380 UMLS:C0409355|SNOMEDCT_US:202289003 Knee flexion deformity|Knee flexion contractures|Flexion deformity of the knee|Contractures of the knees|Flexion contracture of knees|Contractures of knees|Knee contractures|Knee contracture|Flexion contractures of knees|Flexion contractures at both knees|Inability to straighten knee A bent (flexed) knee joint that cannot be straightened actively or passively. HP:0005050 Anterolateral radial head dislocation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005050 UMLS:C1968610 Anterior/lateral radial head dislocation A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction. HP:0006381 Rudimentary fibula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006381 UMLS:C1844706 Small to absent calf bone|Rudimentary to absent fibulae|Small to absent fibula Absent or nearly absent fibula. (Does not include aplastic) HP:0006379 Proximal tibial hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006379 UMLS:C1856029 Proximal tibial hypopolasia HP:0005048 Synostosis of carpal bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005048 UMLS:C1836193 Fusion of wrist bones HP:0006375 Dumbbell-shaped femur biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006375 UMLS:C4025052 Dumbbell-shaped thighbone The femur is shortened and displays flaring (widening) of the metaphyses. HP:0006376 Limited elbow flexion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006376 UMLS:C1856922 HP:0005045 Diaphyseal cortical sclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005045 UMLS:C1833739 An elevation in bone density of the cortex of one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity. HP:0006378 Osteolysis of patellae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006378 UMLS:C4025051 HP:0006371 Broad long bone diaphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006371 UMLS:C4025053 Broad shaft of long bone|Wide shaft of long bone Increased width of the diaphysis of long bones. HP:0005041 Irregular capital femoral epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005041 UMLS:C4020825 Irregular end part of innermost thighbone|Irregular proximal femoral epiphyses|Irregular capital femoral epiphyses Irregular surface of the normally relatively smooth capital femoral epiphysis. HP:0005042 Irregular, rachitic-like metaphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005042 UMLS:C1866700 HP:0005043 Proximal humeral metaphyseal irregularity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005043 UMLS:C1865128 Irregular proximal humeral metaphyses Irregularity of the normally smooth surface of the metaphysis at the proximal end of the humerus (at the shoulder). HP:0006390 Anterior tibial bowing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006390 UMLS:C1861937 Anterior bowing of tibia An abnormal anterior bending or curvature of the tibia. HP:0005060 Limited elbow flexion/extension biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005060 UMLS:C1968605 HP:0006391 Overtubulated long bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006391 UMLS:C1848769 Overconstriction, or narrowness of the diaphysis and metaphysis of long bones. HP:0006392 Increased density of long bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006392 UMLS:C1849307 Increased density of long bones An abnormal increase in the bone density of the long bones. HP:0032605 High renal tubular epithelial cell N/C ratio biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032605 High N/C ratio of renal tubular epithelial cells At least one tubular epithelial cell with average sized cytoplasmic area and a nuclear area 3 times greater than average sized nuclei. HP:0032604 Renal tubular epithelial cell mitosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032604 Tubular epithelial cells in any mitotic phase, identified by distinctively visible chromosome in either prophase, metaphase, anaphase or telophase configuration. HP:0032607 Renal tubular epithelial cell swelling biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032607 Tubular cross section lined entirely by tubular epithelium with convex apical cell membrane (i.e., cells are shaped like an upside down U, and lack a distinct smaller protrusion seen in blebbing as defined above) resulting in apparent complete closure of the lumen. HP:0032606 Renal tubular epithelial lipofuscin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032606 Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules. HP:0032601 Multinucleation of renal tubular epithelial cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032601 Tubular epithelial cells with greater than 3 nuclei in a single epithelial cell, often overlapping with each other in a single plane of view. HP:0005059 Arthralgia/arthritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005059 UMLS:C4025256 Joint pain/Joint inflammation HP:0032600 Renal tubular epithelial cell hyaline droplets biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032600 Tubular epithelium with round strongly PAS-positive cytoplasmic droplet material in at least one tubular epithelial cell. HP:0032603 Renal tubular epithelial cell simplification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032603 Tubular cross section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush border involving greater than 50 percent of the tubular cells in cross section, resulting in an apparent increase in the size of the lumen, without the presence of casts. HP:0032602 Prominent nucleoli of renal tubular epithelial cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032602 Tubular epithelium with nucleoli clearly visible at 100-fold magnification. HP:0006386 Hypoplastic distal radial epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006386 UMLS:C1969286 Underdevelopment of the distal epiphysis of the radius. HP:0006387 Wide distal femoral metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006387 UMLS:C1849309 Broad outermost wide portion of thighbone|Wide distal metaphysis of femur Increased width of the distal part of the shaft (metaphysis) of the femur. HP:0006389 Limited knee flexion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006389 UMLS:C1839512 Reduced ability to flex (bend) the knee joint. HP:0032609 Endocrine-type tubular atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032609 Renal tubular atrophy, endocrine-type|Endocrinization pattern of tubular atrophy A type of renal tubular atrophy characterized by endocrine-like appearance of tubules, which are small and have narrow lumina, clear cells, and relatively thin basement membranes. HP:0006383 Progressive bowing of long bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006383 UMLS:C1857137 Progressive bending or abnormal curvature of a long bone. HP:0032608 Thyroidization-type tubular atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032608 A type of renal tubular atrophy characterized by a thyroid-like appearance, with small round tubules with markedly flattened, simplified epithelium and uniform intratubular casts. HP:0006384 Club-shaped distal femur biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006384 UMLS:C1857505 Club-shaped distal femora|Club-shaped outermost end of thighbone An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis. HP:0005054 Metaphyseal spurs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005054 UMLS:C1832988 Bony outgrowths that extend laterally from the margin of the metaphysis. HP:0006385 Short lower limbs biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0006385 SNOMEDCT_US:249786007|UMLS:C0426901 Short lower limbs|Short legs Shortening of the legs related to developmental hypoplasia of the bones of the leg. HP:0007690 Map-dot-fingerprint corneal dystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007690 SNOMEDCT_US:32935005|UMLS:C0271285 HP:0032610 Tubulointerstitial mycobacterial infiltration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032610 Renal tubulointerstitial mycobacterial organisms Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation. HP:0032616 Renal interstitial immunoglobulin deposits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032616 Renal interstitial immunoglobulin deposition Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining). HP:0032615 Abnormal diffusion weighted cerebral MRI morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032615 MRI diffusion abnormality of the cerebrum|Diffusion weighted imaging (DWI) abnormality|Diffusion weighted magnetic resonance imaging (DWI) abnormality A diffusion abnormality observed in diffusion-weighted magnetic resonance imaging (MRI) of the brain. Molecular diffusion refers to the notion that any type of molecule in a fluid (eg, water) is randomly displaced as the molecule is agitated by thermal energy. Restricted diffusion of water appears bright on diffusion-weighted images. HP:0032618 Renal necrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032618 Renal parenchymal necrosis Cell death (necrosis) affecting one or more parts of the kidney. HP:0032617 Renal interstitial hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032617 Renal interstitial haemorrhage A focal collection of 20 or more red blood cells within the interstitium, that is irregular in shape (i.e., collections do not conform to the shape of tubules or capillary networks), without surrounding endothelium or tubular epithelium, and is in an area of intact core. HP:0005026 Mesomelic/rhizomelic limb shortening biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005026 UMLS:C1866239 HP:0006357 Premature loss of permanent teeth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006357 UMLS:C1969738 Early loss of secondary dentition|Premature loss of secondary teeth|Early loss of adult teeth|Premature loss of adult teeth|Early loss of permanent teeth Premature loss of the permanent teeth. HP:0032612 Triphalangeal hallux biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032612 A hallux (big toe) with three phalanges in a single, proximo-distal axis. HP:0006358 Shovel-shaped maxillary central incisors biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006358 UMLS:C1833168 Shovel-shaped upper front teeth Incisors with a thick marginal ridge surrounding a deep lingual fossa are termed shovel-shaped incisors. HP:0007688 Undetectable light- and dark-adapted electroretinogram biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007688 UMLS:C4021570 Absent cone and rod functions by electroretinogram|Absent rod-and cone-mediated responses on ERG Absence of the combined rod-and-cone response on electroretinogram. HP:0032611 Renal tubular epithelial cell hemosiderin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032611 Tubular epithelial cells containing cytoplasmic hemosiderin, brown-golden granular pigment. HP:0005028 Widened proximal tibial metaphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005028 UMLS:C1836187 Wide innermost wide portion of shinbone bone|Wide innermost wide portion of shankbone bone HP:0032614 Renal glomerular amyloid deposition biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032614 Amyloid deposits located in the glomeruli in a focal segmental, diffuse segmental or diffuse global fashion. This abnormality can be accompanied by mesangial involvement and in later stages also involvement of the peripheral capillaries. HP:0032613 Renal interstitial amyloid deposits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032613 Renal interstitial amyloidosis|Renal interstitial amyloid|Renal interstitial amyloid deposition Deposition of amyloid in the interstitial tissue of the kidney. Amyloid is is made up of 10 nm (on average) fibrils that are most commonly composed of monoclonal light chains (AL), transthyretin (TTR), amd LECT2, or occur in the setting of long standing systemic inflammation. HP:0006353 Hypoplasia of the tooth germ biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006353 UMLS:C4025055 Underdevelopment of tooth bud|Hypoplastic tooth buds|Underdevelopment of tooth germ|Decreased size of tooth bud|Hypotrophic tooth germ|Small tooth germ|Decreased size of tooth germ|Small tooth bud Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth. HP:0007685 Peripheral retinal avascularization biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007685 UMLS:C1851406 HP:0006355 Agenesis of mandibular central incisor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006355 UMLS:C1840225|UMLS:C4025054 Missing mandibular central incisor|Absence of mandibular central incisor|Absence of lower central incisor|Missing lower central incisor|Failure of development of mandibular central incisor Agenesis of lower secondary incisor or lower primary incisor. HP:0007687 Unilateral ptosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007687 UMLS:C1866806 Dropping of one upper eyelid A unilateral form of ptosis. HP:0005025 Hypoplastic distal humeri biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005025 UMLS:C1968607 Underdevelopment of the distal portion of the humerus. HP:0007686 Abnormal pupillary function biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007686 UMLS:C0917967|SNOMEDCT_US:72124005|MSH:D011681 A functional abnormality of the pupil. HP:0006350 Obliteration of the pulp chamber biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006350 UMLS:C4025057|UMLS:C4280448|UMLS:C4020817 Small pulp chamber of tooth|Narrowing of pulp chamber of tooth|Crescent/chevron-shaped pulp chambers|Pulp canal obliteration|Reduced size of pulp chamber of tooth Obliteration of the pulp chambers owing to mineralization of the dental pulp. HP:0032619 Perinephric abscess biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032619 A perinephric abscess is a collection of suppurative material in the perinephric space (i.e., the connective and adipose tissues surrounding the kidney). HP:0007680 Depigmented fundus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007680 UMLS:C4024816 HP:0005021 Bilateral elbow dislocations biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005021 UMLS:C3278429 Dislocated elbows on both sides HP:0006352 Failure of eruption of permanent teeth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006352 UMLS:C4025056|UMLS:C4280447 Unerupted adult teeth|Unerupted permanent teeth|Unerupted permanent dentition|Unerupted adult dentition|Failure of eruption of adult teeth Lack of tooth eruption of the secondary dentition. HP:0006370 Distal ulnar epiphyseal stippling biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006370 UMLS:C4021600 Distal ulnar epiphyseal calcifications The presence of abnormal punctate (speckled, dot-like) calcifications in the distal epiphysis of the ulna. HP:0032621 Hyperchromasia of renal tubular epithelial cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032621 Condensed chromatin of renal tubular epithelial cells At least one tubular cross section with all tubular epithelial nuclei having a chromatin pattern resembling normal mature lymphocytes. HP:0032620 Intrarenal abscess biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032620 Renal parenchymal abcess|Renal abscess An encapsulated collection of pus and necrotic material within the renal parenchyma. The destruction of renal parenchyma is associated with suppurative/neutrophil-rich inflammation and necrosis. HP:0032627 Intratubular leukocyte casts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032627 Casts that contain white blood cells and are located within the tubuli of the kidney. HP:0032626 Intratubular vancomycin casts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032626 Intratubular casts composed of vancomycin aggregates and uromodulin. HP:0032629 Intratubular dihydroxyadenuria crystals biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032629 Intratubular crystals composed of 2,8-dihydroxyadenine are small needle-shaped brownish crystals that are highly birefringent under polarized light and black by Jones methenamine silver. HP:0032628 Renal intratubular crystals biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032628 HP:0032623 Renal intratubular casts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032623 Tubular 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. HP:0005037 Proximal radio-ulnar synostosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005037 UMLS:C2676443 An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna. HP:0006368 Forearm reduction defects biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006368 UMLS:C1849327 HP:0032622 Tubular luminal dilatation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032622 Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen. HP:0006369 Irregular patellae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006369 UMLS:C1836870 Irregular patellar contour|Irregular patellar margins An alteration of the normally relatively smooth margins of the kneecap in radiographic images leading to an irregular contour. HP:0005039 Multiple long-bone exostoses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005039 UMLS:C1835583 Multiple exostoses of long tubular bones Multiple exostoses originating in long bones. HP:0032625 Intratubular erythrocyte cast biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032625 Casts that contain red blood cells and are located within the tubuli of the kidney. HP:0032624 Intratubular bilirubin casts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032624 A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. On H&E (red brown), PAS (amaranth purple), trichrome (red with ragged contours), Hall (olive-emerald green). HP:0005033 Distal ulnar hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005033 UMLS:C1833145 Hypoplastic distal ulna|Distal shortening of ulna Underdevelopment of the distal portion of the ulna. HP:0007695 Abnormal pupillary light reflex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007695 UMLS:C1970591 An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye. HP:0005035 Shortening of all phalanges of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005035 UMLS:C4025257 Short toe bones Developmental hypoplasia (shortening) of all phalanges of the foot. HP:0006366 Adductor longus contractures biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006366 UMLS:C1859524 HP:0007698 obsolete Retinal pigment epithelial atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007698 HP:0006367 Crumpled long bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006367 UMLS:C1970497 Crumpled long bones An crumpled radiographic appearance of the long bones, as if the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta. HP:0007697 Hypoplasia of the lower eyelids biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007697 UMLS:C4280420|UMLS:C4280270|UMLS:C4024814 Decreased size of lower eyelid|Underdevelopment of lower eyelid|Hypotrophic lower eyelid|Small lower eyelid|Short lower eyelid Underdevelopment of the lower eyelid. HP:0005036 Unilateral ulnar hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005036 UMLS:C1837832 Underdevelopment of the ulna on only one side. HP:0007692 obsolete Nonnuclear polymorphic congenital cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007692 HP:0006361 Irregular femoral epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006361 UMLS:C1850658 Irregular thighbone end part HP:0007691 obsolete Short curly eyelashes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007691 HP:0006362 Varus deformity of humeral neck biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006362 UMLS:C1854948 HP:0008915 Childhood-onset truncal obesity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008915 UMLS:C1859846 Truncal obesity apparent in childhood Truncal obesity with onset during childhood, defined as between 2 and 10 years of age. HP:0008929 Asymmetric short stature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008929 UMLS:C4024614 HP:0008921 Neonatal short-limb short stature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008921 UMLS:C1850171 Short-limb dwarfism identifiable at birth|Short-limb dwarfism identifiable neonatally|Dwarfism, neonatal short-limbed|Short limb dwarfism recognizable at birth|Neonatal short-limbed dwarfism|Short-limbed dwarfism identifiable at birth A type of short-limbed dwarfism that is manifest beginning in the neonatal period. HP:0008922 Childhood-onset short-trunk short stature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008922 UMLS:C3148833 Disproportionate short-trunk short stature, identifiable in childhood|Short-trunk dwarfism identifiable during childhood|Childhood-onset short-trunk short stature A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood. HP:0008909 Lethal short-limbed short stature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008909 UMLS:C2674171 Lethal micromelic dwarfism|Lethal short-limbed dwarfism HP:0008905 Rhizomelia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0008905 UMLS:C1866730 Short stature, rhizomelic|Rhizomelic short stature|Rhizomelic limb shortening|Disproportionately short upper portion of limb|Rhizomelic shortening|Symmetrical rhizomelic limb shortening|Rhizomelic short limbs|Rhizomelic dwarfism Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). HP:0007627 Mandibular condyle aplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007627 UMLS:C4280429|UMLS:C4280432|UMLS:C4280436|UMLS:C4280431|UMLS:C4280435|UMLS:C0399570|UMLS:C4280430|UMLS:C4280434|UMLS:C4280433|UMLS:C4280437|SNOMEDCT_US:235119009 Absence of the condylar process of mandible|Underdevelopment of condylar head of mandible|Failure of development of condylar head of mandible|Failure of development of the condylar process of mandible|Underdevelopment of condylar neck of mandible|Absence of the condylar head of mandible|Agenesis of condylar head of mandible|Absence of the condylar neck of mandible|Failure of development of condylar neck of mandible|Agenesis of condylar process of mandible|Underdevelopment of condylar process of mandible|Agenesis of condylar neck of mandible HP:0007626 Mandibular osteomyelitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007626 UMLS:C1290708|SNOMEDCT_US:109695005 Lower jaw bone infection|Osteomyelitis, especially of the mandible Osteomyelitis of the lower jaw. HP:0007628 Mandibular condyle hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007628 UMLS:C4280425|UMLS:C0399572|UMLS:C4280424|UMLS:C4280428|UMLS:C4280423|UMLS:C4280427|UMLS:C4280426|SNOMEDCT_US:235120003 Hypoplasia of condylar process of mandible|Hypoplasia of condylar head of mandible|Hypoplasia of condylar neck of mandible|Small mandibular condyle|Small condylar head of mandible|Decreased size of mandibular condyle|Hypotrophic mandibular condyle|Hypoplasia of subcondylar region of mandible|Hypoplasia of mandibular condyle|Small condylar neck of mandible|Decreased size of condylar process of mandible|Hypotrophic condylar process of mandible HP:0008959 Distal upper limb muscle weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008959 UMLS:C3150620 Reduced strength of the distal musculature of the arms. HP:0007623 Pigmentation anomalies of sun-exposed skin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007623 UMLS:C4024826 Abnormal pigmentation in sun-exposed skin HP:0008954 Intrinsic hand muscle atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008954 UMLS:C1864716 Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles. HP:0008953 Pectoralis major hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008953 UMLS:C1840086 Pectoralis major muscle hypoplasia Underdevelopment of the pectoralis major. HP:0008956 Proximal lower limb amyotrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008956 UMLS:C1836767 Wasting of thigh muscle|Thigh muscle atrophy|Proximal lower limb muscle atrophy|Amyotrophy involving the thigh|Amyotrophy of the thigh musculature Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh. HP:0008955 Progressive distal muscular atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008955 UMLS:C4024613 Progressive muscular atrophy affecting muscles in the distal portions of the extremities. HP:0008952 Shoulder muscle hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008952 UMLS:C1969001 Underdeveloped shoulder muscle Underdevelopment of muscles of the shoulder. HP:0007621 Telangiectasia of extensor surfaces biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007621 UMLS:C4024827 HP:0007620 Cutaneous leiomyoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007620 NCIT:C3157|UMLS:C0346064|SNOMEDCT_US:254767008 Cutaneous leiomyomas|Cutaneous leiomyomata The presence of leiomyoma of the skin. HP:0008969 Leg muscle stiffness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008969 UMLS:C4024610 HP:0008968 Muscle hypertrophy of the lower extremities biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008968 UMLS:C1850663 Muscle hypertrophy primarily affecting the legs. HP:0006308 Atrophy of alveolar ridges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006308 UMLS:C1855642|UMLS:C4280454|UMLS:C4280455 Flattening of alveolar ridges|Alveolar bone loss|Resorption of alveolar processes of jaw|Atrophy of alveolar processes of jaw|Atrophy of alveolar margins|Resorption of alveolar margins|Flattening of alveolar processes of jaw|Shrinking of alveolar ridges|Resorption of alveolar ridges|Flattening of alveolar margin|Flattening of gum ridges|Shrinking of gum ridges HP:0006302 Dagger-shaped pulp calcifications biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006302 UMLS:C4025067 Dagger shaped pulp denticles|Dagger shaped pulp stones Dagger-shaped calcifications in the dental pulp. HP:0007634 Nonarteritic anterior ischemic optic neuropathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007634 UMLS:C1852242 Nonarteritic anterior ischaemic optic neuropathy An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates. HP:0007633 Bilateral microphthalmos biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007633 UMLS:C4280421|UMLS:C1843496|UMLS:C4280422 Abnormally small eyeball on both sides|Microphthalmia, bilateral|Bilateral nanophthalmos|Decreased size of globes of eyes|Decreased size of eyeballs A developmental anomaly characterized by abnormal smallness of both eyes. HP:0008964 Nonprogressive muscular atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008964 UMLS:C4024611 Muscular atrophy that does not display a progression in severity with time. HP:0008967 Exercise-induced muscle stiffness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008967 UMLS:C1855579 Exercise-induced muscle stiffness|Muscle stiffness, exercise-induced|Muscle stiffness with exercise A type of muscle stiffness that occurs following physical exertion. HP:0006304 Widely-spaced incisors biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006304 UMLS:C0399545|SNOMEDCT_US:196409003 Diastema between front teeth|Diastema between incisors|Widely spaced front teeth|Gap between front teeth|Anterior diastema of teeth HP:0008963 Tibialis muscle weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008963 UMLS:C4024612 Muscle weakness affecting the tibialis anterior muscle. HP:0008962 Calf muscle hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008962 UMLS:C3805450 Underdeveloped calf muscles|Hypoplastic calf muscles Underdevelopment of the muscuklature of the calf. HP:0007609 Hypoproteinemic edema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007609 UMLS:C4024832 Hypoproteinemic oedema An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia). HP:0007608 Abnormal palmar dermal ridges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007608 UMLS:C4024833 HP:0008936 Muscular hypotonia of the trunk biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008936 UMLS:C1853743 Axial hypotonia|Low muscle tone in trunk|Truncal hypotonia Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk. HP:0007605 Excessive wrinkling of palmar skin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007605 UMLS:C4021572 Redundant, wrinkled skin of palms HP:0008935 Generalized neonatal hypotonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008935 UMLS:C1845123 Generalised neonatal hypotonia|Generalized low muscle tone in neonate|Hypotonia, neonatal, generalized Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature. HP:0007607 Hypohidrotic ectodermal dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007607 SNOMEDCT_US:7731005|SNOMEDCT_US:239007005|MSH:D053358|UMLS:C0162359 HP:0007606 Multiple cutaneous malignancies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007606 UMLS:C4024834 HP:0007601 Midline facial capillary hemangioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007601 UMLS:C1840310 HP:0007603 Freckles in sun-exposed areas biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007603 UMLS:C1859923 Freckles in sun-exposed areas HP:0007602 Complex palmar dermatoglyphic pattern biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007602 UMLS:C4024835 HP:0007616 Nevus flammeus nuchae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007616 UMLS:C4024829|UMLS:C0860468|UMLS:C4280438 Angel's kiss|Port-wine stain on neck|Stork bite|Salmon patch Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns. HP:0008947 Infantile muscular hypotonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008947 UMLS:C1860834 Infantile hypotonia|Hypotonia in infancy|Hypotonia early|Decreased muscle tone in infant|Hypotonia, early Muscular hypotonia (abnormally low muscle tone) manifesting in infancy. HP:0008946 Pelvic girdle amyotrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008946 UMLS:C4021528 Hip 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. HP:0007618 Subcutaneous calcification biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0007618 SNOMEDCT_US:17141001|UMLS:C0263625 Skin calcification Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument). HP:0008948 Proximal upper limb amyotrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008948 UMLS:C1866013 Proximal muscle atrophy in upper limbs|Proximal upper limb muscle atrophy Muscular atrophy affecting proximally located muscles of the arms. HP:0007617 Fine, reticulate skin pigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007617 UMLS:C4024828 HP:0008942 Acute rhabdomyolysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008942 UMLS:C3807306 Rhabdomyolysis, acute An acute form of rhabdomyolysis. HP:0008945 Loss of ability to walk in early childhood biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008945 UMLS:C1835993 HP:0008944 Distal lower limb amyotrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008944 UMLS:C3806644|UMLS:C1836451|UMLS:C1866863 Lower limb atrophy|Lower limb degeneration|Muscle atrophy, lower limb, distal|Lower limb muscle hypotrophy|Lower leg amyotrophy Muscular atrophy of distal leg muscles. HP:0007613 Spinous keratoses of palms and soles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007613 UMLS:C4024830 HP:0007610 Blotching pigmentation of the skin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007610 UMLS:C4024831 HP:0008940 Generalized lymphadenopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008940 SNOMEDCT_US:274741002|UMLS:C0476486 Generalized swelling of lymph nodes|Generalised lymphadenopathy|Swollen lymph nodes affecting all regions of the body A generalized form of lymphadenopathy. HP:0030170 Cystic artery pseudoaneurysm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030170 UMLS:C4022601 Presence of a pseudoaneurysm in the artery that supplies the gallbladder and cystic duct with blood. A pseudoaneurysm, also known as a false aneurysm, forms when blood leaks through a breach of the arterial wall but is contained by the adventitia or surrounding perivascular soft tissue. HP:0030171 Perirenal hematoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030171 UMLS:C0473124|SNOMEDCT_US:197824007 A collection of clotted blood surrounding the kidney. HP:0030176 Asymmetric peripheral demyelination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030176 UMLS:C4022598 Loss of myelin from peripheral nerves in a pattern that differs between right and left. HP:0030177 Abnormality of peripheral nervous system electrophysiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030177 UMLS:C0853150 Abnormal nerve conduction study An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles. HP:0030178 Abnormality of central nervous system electrophysiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030178 UMLS:C4022597 Abnormality of CNS electrophysiology HP:0030179 Abnormal peripheral action potential amplitude biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030179 UMLS:C4022596 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. HP:0030172 Peripheral amyelination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030172 UMLS:C4022600 Congenital absence of the myelin sheath on a nerve. HP:0030173 Peripheral hypermyelination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030173 UMLS:C4021049 Increased peripheral myelination Increased amount of peripheral myelination. HP:0030174 Increased peripheral myelin thickness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030174 UMLS:C4022599 Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion. HP:0030175 Myelin tomacula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030175 UMLS:C4020904 Tomacula The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage). HP:0030180 Oppenheim reflex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030180 UMLS:C1532837|SNOMEDCT_US:414949005 Oppenheim sign 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). HP:0030181 Gordon reflex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030181 UMLS:C4021048 Gordon sign Dorsal extension of the big toe, sometimes accompanied by fanning of the other toes, elicited by compressing the calf muscles (a normal response is no movement of the big toe). HP:0030182 Tetraplegia/tetraparesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030182 UMLS:C4022595 Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength. HP:0030187 Titubation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030187 UMLS:C0231690|SNOMEDCT_US:78691002 Nodding movement of the head or body. HP:0030188 Tremor by anatomical site biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030188 UMLS:C4022593 Tremor of a body part Tremor classified by the affected body part. HP:0030183 Impaired visually enhanced vestibulo-ocular reflex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030183 UMLS:C4021047 VVOR impairment|Visually enhanced vestibulo-ocular reflex impairment The vestibulo-ocular reflex is responsible for the stabilization of the retinal image during movement. The visual vestibular ocular reflex (VVOR) or visual enhanced VOR, maintains ocular stability during head motion by generating compensatory eye movement opposite to head movement, and is a major component of visual vestibular interaction. This feature is an impairment of this reflex, manifested as the combined impairment of the three compensatory eye movement reflexes, namely the vestibulo-ocular reflex (VOR), smooth pursuit (SP) and optokinetic reflex (OKR). HP:0030185 Isometric tremor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030185 UMLS:C4022594|UMLS:C4280303 Dystonia tremor An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist). HP:0030186 Kinetic tremor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030186 MSH:D014202|MSH:D020329|UMLS:C0270736|SNOMEDCT_US:30721006|UMLS:C0234376|SNOMEDCT_US:609558009 Essential tremor Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor. HP:0005190 Proximal finger joint hyperextensibility biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005190 UMLS:C4025242 HP:0030190 Oral motor hypotonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030190 UMLS:C4022592 Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior. HP:0030191 Abnormal peripheral nervous system synaptic transmission biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030191 UMLS:C4021046 Abnormal PNS synaptic transmission An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system. HP:0005191 Congenital knee dislocation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005191 UMLS:C0265669|SNOMEDCT_US:59068006 Dislocated knee since birth HP:0030192 Fatigable weakness of bulbar muscles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030192 UMLS:C4022591 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. HP:0005193 Restricted large joint movement biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005193 UMLS:C4025241 HP:0030193 Fatigable weakness of chewing muscles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030193 UMLS:C4022590 A type of weakness of the muscles involved in chewing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. HP:0030198 Fatigable weakness of distal limb muscles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030198 UMLS:C4022585 A type of weakness of a skeletal muscle of distal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. HP:0030199 Fatigable weakness of neck muscles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030199 UMLS:C4022584 A type of weakness of a skeletal muscle in the neck that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. HP:0030194 Fatigable weakness of speech muscles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030194 UMLS:C4022589 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. HP:0030195 Fatigable weakness of swallowing muscles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030195 UMLS:C4022588 A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. HP:0030196 Fatigable weakness of respiratory muscles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030196 UMLS:C4022587 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. HP:0030197 Fatigable weakness of skeletal muscles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030197 UMLS:C4022586 A type of weakness of skeletal muscle that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. HP:0005187 Progressive joint destruction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005187 UMLS:C4025243 HP:0005183 Pericardial lymphangiectasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005183 UMLS:C1856140 An abnormal dilatation of lymph vessels in the pericardium. HP:0005184 Prolonged QTc interval biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005184 UMLS:C1560305 A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations. HP:0005185 Global systolic dysfunction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005185 UMLS:C1847397 A reduced ejection fraction and an enlarged left ventricle chamber, the latter by an increased resistance to filling with increased filling pressures. Systolic dysfunction is clinically associated with left ventricular failure in the presence of marked cardiomegaly. HP:0005186 Synovial hypertrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005186 MSH:D013585|UMLS:C0410574|SNOMEDCT_US:240206002 HP:0005198 Stiff interphalangeal joints biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005198 UMLS:C4025237 Stiff hinge joints Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity. HP:0005199 Aplasia of the abdominal wall musculature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005199 UMLS:C3149223 Absent abdominal musculature Absence of the abdominal musculature. HP:0005194 Flattened metatarsal heads biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005194 UMLS:C4025240 Flattened head of long bone of foot Abnormally flat shape of the heads of the metatarsal bones. HP:0005195 Polyarticular arthropathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005195 UMLS:C4025239 HP:0005197 Generalized morning stiffness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005197 UMLS:C4025238 Generalised morning stiffness A sensation of stiffness in the joints that occurs following waking up in the morning. HP:0032795 Generalized myoclonic-tonic-clonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032795 Generalized-onset myoclonic-tonic-clonic seizure|generalized onset myoclonic-tonic-clonic seizure|Generalised-onset myoclonic-tonic-clonic seizure|Generalised onset myoclonic-tonic-clonic seizure|Generalised myoclonic-tonic-clonic seizure A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterised by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus. HP:0031463 Esophageal squamous papilloma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031463 A rare benign epithelial tumor that is usually asymptomatic but can present with pyrosis and epigastric discomfort with or without dysphagia. Histopathologically, esophageal squamous papilloma has fingerlike projections lined with acanthotic stratified squamous epithelium with conservation of normal cellular with or without cellular atypia. HP:0030132 Absence of large von Willibrand factor multimers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030132 UMLS:C4022616 Absence of large von Willebrand Factor multimers on gel electrophoresis. HP:0032794 Myoclonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032794 A myoclonic seizure is a type of motor seizure characterised by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. HP:0031464 Genital blistering biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031464 The presence of one or more bullae on the skin of the genital region, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. HP:0030133 Abnormal presence of ultra-large von Willebrand factor multimers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030133 UMLS:C4022615 Detection of abnormal ultra-large von Willebrand factor multimers. HP:0030134 Total absence von Willebrand factor multimers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030134 UMLS:C4022614 Complete absence of all von Willebrand factor multimers. HP:0031465 Abnormal vasa vasorum morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031465 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. HP:0032797 Focal aware sensory seizure with olfactory features biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032797 Seizures characterized by olfactory phenomena at onset - usually an odor, which is often unpleasant. HP:0031466 Impairment in personality functioning biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031466 A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning. HP:0032796 Focal impaired awareness cognitive seizure with left-right confusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032796 A focal cognitive seizure with left-right confusion characterized by impairment of awareness at some point during the seizure. HP:0030135 Absence of intermediate von Willibrand factor multimers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030135 UMLS:C4022613 Lack of intermediate von Willebrand Factor multimers on gel electrophoresis. HP:0032791 Focal impaired awareness cognitive seizure with anomia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032791 A focal cognitive seizure with anomia characterized by impairment of awareness at some point during the seizure. HP:0032790 Focal impaired awareness behavior arrest seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032790 Focal impaired awareness behaviour arrest seizure A focal behavior arrest seizure characterised by impaired awareness at some point during the seizure. HP:0031460 Benign muscle neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031460 A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue [NCIT:C4882]. HP:0032793 Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032793 A focal cognitive seizure with receptive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure. HP:0031461 Intramuscular Myxoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031461 IM Myxoma A benign tumor that is usually solitary, painless, palpable mass that is firm in consistency and slightly movable and often fluctuant. It can occur in any location, but tends to involve the muscles of the thighs, buttocks, and shoulders. On microscopic examination, there is abundant mucoid material and relative hypo cellularity and loose reticulin fibers. Vascular structures are sparse. The cells have a stellate shape with small hyper chromatic pyknotic nuclei and scanty cytoplasm. Some myxomas may show focal areas of hyper cellularity. However absence of nuclear atypia, mitotic figures or necrosis helps to rule out malignancy. HP:0030130 Impaired von Willibrand factor collagen binding activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030130 UMLS:C4022618 Reduced ability of von Willibrand factor (vWF) to bind collagen. Abnormal response to collagen as manifested by reduced or lacking ability of plasma von WIllebrand Factor to bind collagen. An ELISA-based assay is typically used; the test is sensitive to loss of von Willebrand Factor high molecular weight multimers. HP:0032792 Tonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032792 A tonic seizure is a type of motor seizure characterised by unilateral or bilateral limb stiffening or elevation, often with neck stiffening. HP:0031462 Musculotendinous retraction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031462 Abnormal reduction in length of a tendon which tends to pull (retract) the attached muscle tissue with shortening of the muscle fibers often accompanied by atrophy and fatty degeneration of the affected muscle tissue. HP:0030131 Abnormal von Willebrand factor multimer distribution biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030131 UMLS:C4022617 Deviation from the normal von Willebrand factor multimer pattern. HP:0031467 Negative affectivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031467 A stable tendency to experience negative emotions, i.e., a disposition to experience aversive emotional states. HP:0030136 Enhanced ristocetin cofactor assay activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030136 UMLS:C4022612 Abnormal response to ristocetin as manifested by increased aggregation of platelets upon addition of low-dose ristocetin to platelet-rich plasma. HP:0032799 Focal impaired awareness hemiclonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032799 A focal hemiclonic seizure in which awareness is impaired at some point during the seizure. HP:0031468 Separation insecurity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031468 Fears of rejection by and/or separation from significant others, associated with fears of excessive dependency and complete loss of autonomy. HP:0030137 Prolonged bleeding following circumcision biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030137 UMLS:C4022611 Prolonged bleeding following circumcision Bleeding that persists for a longer than usual time following circumcision. HP:0032798 Focal impaired awareness cognitive seizure with neglect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032798 A focal cognitive seizure with neglect characterized by impairment of awareness at some point during the seizure. HP:0031469 Low self esteem biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031469 Negative opinion about oneself characterized by low self-confidence and exaggeratedly critical feelings about oneself. HP:0030138 Excessive bleeding from superficial cuts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030138 UMLS:C4022610 Excessive bleeding from superficial cuts An abnormally increased degree of bleeding following a superfical injury to the surface of the skin. HP:0030139 Excessive bleeding after a venipuncture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030139 UMLS:C4022609 An abnormal high amount of bleeding following the procedure of taking a blood sample. HP:0030143 Hyperactive bowel sounds biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030143 SNOMEDCT_US:18101008|UMLS:C0232694 Increased bowel sounds An increased amount of bowel sounds. HP:0031474 Pulmonary chondroma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031474 A benign cartilaginous tumors of the lung. HP:0031475 Status epilepticus without prominent motor symptoms biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031475 Nonconvulsive status epilepticus There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma. HP:0030144 Hypoactive bowel sounds biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030144 SNOMEDCT_US:15280003|UMLS:C0232695 Decreased bowel sounds An decreased amount of bowel sounds. HP:0030145 Lack of bowel sounds biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030145 UMLS:C4022606 Lack of bowel sounds Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope. HP:0031476 Abnormal buccal mucosa cell morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031476 Any structural anomaly of the cells of the mucosa of the oral cavity in the region of the cheek (buccal mucosa cells). HP:0030146 Abnormal liver parenchyma morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030146 UMLS:C4022605 A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells. HP:0031477 obsolete Abnormal mitral valve morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031477 HP:0030140 Oral cavity bleeding biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030140 UMLS:C4022608 Oral cavity bleeding|Oral cavity hemorrhage|Bleeding from mouth Recurrent or excessive bleeding from the mouth. HP:0031472 Risk taking biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031472 Engagement in dangerous, risky, and potentially self-damaging activities, unnecessarily and without regard to consequences; lack of concern for one's limitations and denial of the reality of personal danger. HP:0030141 Abnormality of the posterior hairline biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030141 UMLS:C4022607 Abnormality of hairline at back of head An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair. HP:0031473 Hostility biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031473 Persistent or frequent angry feelings; anger or irritability in response to minor slights and insults. HP:0030142 Abnormal bowel sounds biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030142 UMLS:C0159060|SNOMEDCT_US:60612008 Abnormal bowel sounds An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis. HP:0030147 Truncal titubation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030147 UMLS:C2674512 Tremor of the trunk in an anterior-posterior plane at 3-4 Hz. HP:0031478 Abnormal mitral valve annulus morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031478 Any structural anomaly of the annulus of the mitral valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach. HP:0030148 Heart murmur biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030148 MSH:D006337|UMLS:C0018808|SNOMEDCT_US:414786004|SNOMEDCT_US:88610006|SNOMEDCT_US:421493004 Cardiac murmurs|Cardiac murmur|Heart murmur|Heart murmurs An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart. HP:0031479 Dilatation of the mitral annulus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031479 An increase in the diameter of the ring (annulus) of the mitral valve. HP:0030149 Cardiogenic shock biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030149 SNOMEDCT_US:89138009|UMLS:C0036980|MSH:D012770 Cardiovascular shock Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume. HP:0031480 Abnormal mitral valve leaflet morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031480 Any structural anomaly of the leaflets (also known as cusps) of the mitral valve. HP:0030154 Gallbladder perforation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030154 SNOMEDCT_US:25345001|UMLS:C0156215 Gall bladder perforation Rupture of the wall of the gallbladder. HP:0031485 Subperiosteal bone formation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031485 Periosteal reaction The formation of new bone along the cortex and underneath the periosteum of a bone. HP:0030155 Scrotal pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030155 UMLS:C0236078|SNOMEDCT_US:20502007 Scrotal pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the scrotum. HP:0031486 Vascular malformation of the lip biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031486 An anomaly of blood vessels located in the lip. HP:0030156 Bence Jones Proteinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030156 UMLS:C0004968|SNOMEDCT_US:274771005 The presence of free monoclonal immunoglobulin light chains in the urine. HP:0031487 Capillary malformation of the lip biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031487 A vascular malformation located in the lip that is characterized by ectatic papillary dermal capillaries and postcapillary venules in the upper reticular dermis. HP:0030157 Flank pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030157 MSH:D021501|SNOMEDCT_US:247355005|UMLS:C0016199 Flank pain|Kidney pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank. HP:0031488 Arteriovenous malformation of the lip biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031488 Atypical connection between arteries and veins A vascular malformation located in the lip that is characterized by direct blood shunting from an artery to a vein due to the absence of a capillary bed. The artery and vein can be directly connected by a fistula or indirectly connected by an abnormal vessel channel termed a nidus. HP:0030150 Plasmacytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030150 UMLS:C0549295 An abnormally increased number of plasma cells in tissues, exudates, or blood HP:0031481 Abnormal mitral valve physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031481 Any functional anomaly of the mitral valve. HP:0030151 Cholangitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030151 MSH:D002761|SNOMEDCT_US:82403002|UMLS:C0008311 Bile duct inflammation Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both. HP:0031482 Abnormal regional left ventricular contraction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031482 A wall motion abnormality observed upon left ventricular contraction that affects a specific region of the left ventricle. HP:0031483 Reduced contraction of the left ventricular apex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031483 Reduced wall motion (contraction) of the apex of the left ventricle. This manifestation can be observed on echocardiography. HP:0030152 obsolete Biliary tract neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030152 HP:0030153 Cholangiocarcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030153 UMLS:C0206698|NCIT:C3262|MSH:D018281|SNOMEDCT_US:312104005|SNOMEDCT_US:70179006 Bile duct cancer Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension. HP:0031484 Cold-induced hemolysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031484 A form of hemolytic anemia that can be triggered by cold temperatures. HP:0030158 Cervical ectropion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030158 UMLS:C0269189|SNOMEDCT_US:79342006|SNOMEDCT_US:61253004|MSH:D002579|UMLS:C0007869 Cervical erosion|Cervical ectopy Cervical ectropion occurs when eversion of the endocervix exposes columnar epithelium to the vaginal milieu HP:0031489 Venous malformation of the lip biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031489 A vascular malformation located in the lip that is related to abnormal vascular morphogenesis. HP:0030159 Cervical polyp biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030159 SNOMEDCT_US:123841004|MSH:D002583|SNOMEDCT_US:65576009|UMLS:C0007855|UMLS:C0007873 Cervical tumor Abnormal growth of tissue projecting from a mucous membrane of the endocervix. HP:0031490 Hemangioma of the lip biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031490 A vascular malformation located in the lip that is related to vascular endothelial cell hyperplasia. HP:0030160 Cervicitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030160 SNOMEDCT_US:37610005|MSH:D002575|UMLS:C0007860 Uterine cervix inflammation|Uterine cervicitis Inflammation of the uterine cervix. HP:0031491 Continuous spike and waves during slow sleep biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031491 CSWS Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep. HP:0031496 Mucinous cystic neoplasm of the pancreas biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031496 Mucin-producing and septated cyst-forming epithelial neoplasia of the pancreas with a distinctive ovarian-type stroma. HP:0030165 Temporal artery tortuosity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030165 UMLS:C4022602 The presence of an increased number of twists and turns of the temporal artery. HP:0031497 Mucinous colorectal carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031497 A subtype of colorectal carcinoma with mucin lakes. HP:0030166 Night sweats biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030166 SNOMEDCT_US:42984000|UMLS:C0028081 Night sweats|Nocturnal hyperhidrosis Occurence of excessive sweating during sleep. HP:0031498 Mucinous gastric carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031498 A poorly differentiated type of gastric carcinoma with a substantial amount of extracellular mucus (over 50% of tumor volume) within the tumor. HP:0030167 Antimitochondrial antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030167 UMLS:C4021051 Serum antimitochrondrial antibodies The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria. HP:0031499 Appendiceal mucinous neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031499 An epithelial neoplasm originating in the appendix and often associated with cystic dilation of the appendix due to accumulation of gelatinous material, morphologically referred to as mucoceles. HP:0030168 Dilated superficial abdominal veins biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030168 UMLS:C4021050 Dilatation of the superficial abdominal veins Increase in diameter of the veins located underneath the skin of the abdomen. HP:0030161 Vaginal pruritus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030161 SNOMEDCT_US:34363003|UMLS:C0042256 A sensation of itching in the vagina. HP:0031492 Epithelial neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031492 A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas [NCIT:C3709]. HP:0030162 Glomerulomegaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030162 UMLS:C4022604 Abnormally large size of glomeruli. HP:0031493 Glandular cell neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031493 A tumor that arises from a gland cell. HP:0030163 Abnormal vascular physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030163 UMLS:C4022603 Abnormality of vascular function. HP:0031494 Ovarian mucinous tumor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031494 Mucinous neoplasm of the ovary|Ovarian mucinous tumour Ovarian mucinous neoplasms consist of borderline tumors (tumors of low malignant potential, or LMP tumors), intraepithelial (non-invasive) carcinoma, and invasive carcinoma. HP:0031495 Mucinous neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031495 HP:0030164 Jaw claudication biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030164 SNOMEDCT_US:43922008|UMLS:C0239064 Jaw pain while chewing Pain in the jaw or ear induced by chewing or otherwise moving the jaw. HP:0030169 Gastric varix biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030169 MSH:D004932|UMLS:C0017145|SNOMEDCT_US:91109007 Gastric varices Extreme dilation of the submucusoal veins in the stomach. HP:0032751 Focal impaired awareness emotional seizure with crying biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032751 Focal emotional seizure with crying in which awareness is partially or fully impaired at some point during the seizure. HP:0031420 Small yellow foveal lesion with surrounding gray zone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031420 Small yellow foveal lesion with surrounding grey zone|Light induced retinopathy|Solar retinopathy|Solar retinitis|Laser pointer-induced retinopathy|Photic retinopathy|Laser pointer-induced maculopathy A lesion that is observed following light damage to the macula. Damage to the retinal by exposure to intense visible light, usually the sun. Intense light exposure such as staring at the sun causes fine structural anomalies in the outer segments of the photoreceptors and the retinal pigment epithelium (RPE) cells of the macula. Symptoms usually develop within 1 to 4 h after exposure and include decreased vision, metamorphopsia, micropsia, and central or paracentral scotomas. Fundus examination typically shows a small yellow spot with a surrounding gray zone in the foveolar or parafoveolar area. Spontaneous evolution leads to the improvement of visual acuity. HP:0032750 Focal impaired awareness emotional seizure with laughing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032750 Focal emotional seizure with laughing in which awareness is partially or fully impaired at some point during the seizure. HP:0031421 Small superior frontal cortex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031421 Reduced size of the superior frontal portion of the cerebral cortex. HP:0032753 Focal impaired awareness emotional seizure with agitation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032753 A focal emotional seizure with agitation in which awareness is partially or fully impaired at some point during the seizure. HP:0031422 Abnormal morphology of the cerebellar cortex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031422 Any structural anomaly of the cortex of the cerebellum. HP:0032752 Focal impaired awareness emotional seizure with fear/anxiety/panic biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032752 Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is partially or fully impaired at some point during the seizure. HP:0031427 Abnormal circulating osteocalcin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031427 A deviation from the normal concentration of osteocalcin in the blood circulation. HP:0032759 Focal sensory seizure with vestibular features biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032759 Vestibular aura|Partial vestibular seizure|Focal vestibular seizure A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation as its first clinical manifestation. HP:0005129 Congenital hypertrophy of left ventricle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005129 UMLS:C1855901 HP:0032758 Focal aware myoclonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032758 A type of focal myoclonic seizure during which awareness is fully retained throughout. HP:0031428 Increased circulating osteocalcin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031428 An elevated level of osteocalcin in the blood. HP:0031429 Decreased circulating osteocalcin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031429 A reduced level of osteocalcin in the blood. HP:0032755 Focal impaired awareness autonomic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032755 Partial autonomic seizure with altered responsiveness|Focal autonomic seizure with altered responsiveness|Localized autonomic seizure with altered responsiveness A focal autonomic seizure characterised by impaired awareness at some point within the seizure. HP:0031423 Small cerebellar cortex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031423 Reduced size of the cerebellar cortex. HP:0006456 Irregular proximal tibial epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006456 UMLS:C4025045 Irregular innermost shankbone end part|Irregular innermost shinbone end part Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular. HP:0031424 Abnormal circulating beta-C-terminal telopeptide level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031424 Abnormal circulating beta-CrossLaps level|Abnormal circulating beta-CTx level A deviation from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation, a marker of the rate of bone turnover. HP:0032754 Focal aware sensory seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032754 A focal sensory seizure during which awareness is retained throughout the seizure. HP:0007787 Posterior subcapsular cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007787 UMLS:C0858617|SNOMEDCT_US:315353005 Posterior subcapsular opacities of the lens|Posterior subcapsular cataracts A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule. HP:0031425 Increased circulating beta-C-terminal telopeptide level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031425 Increased circulating beta-CrossLaps level|Increased circulating beta-CTx level A abnormal elevation above the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation. HP:0032757 Focal aware hemiclonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032757 A focal hemiclonic seizure in which awareness is retained throughout. HP:0006459 Dorsal subluxation of ulna biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006459 UMLS:C1851988 Partial dislocation of the ulna in the dorsal direction. HP:0032756 Focal impaired awareness cognitive seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032756 A focal cognitive seizure in which awareness is partially or fully impaired at some point during the seizure. HP:0031426 Decreased circulating beta-C-terminal telopeptide level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031426 Decreased circulating beta-CrossLaps level|Decreased circulating beta-CTx level A reduction from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation. HP:0005121 Posterior scalloping of vertebral bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005121 UMLS:C1850196 Posterior vertebral body scalloping An excessive concavity of the posterior surface of one or more vertebral bodies. HP:0007783 obsolete Butterfly retinal pigment epithelial dystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007783 HP:0006453 Lateral displacement of the femoral head biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006453 UMLS:C1855758 Laterally displaced femoral heads A developmental anomaly with lateral displacement of the femoral head. HP:0006454 Delayed patellar ossification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006454 UMLS:C4280446|UMLS:C4021597 Delayed bone maturation of the knee cap|Delayed patellae ossification Formation of bone in the patella later than normal. HP:0007786 obsolete Lacunar retinal depigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007786 HP:0007780 Cortical pulverulent cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007780 UMLS:C4021568 Cataracts, cortical pulverulent A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens. HP:0006450 Multicentric ossification of proximal femoral epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006450 UMLS:C1857193 HP:0007782 obsolete Peripheral retinal cone degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007782 HP:0005120 Abnormal cardiac atrium morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005120 UMLS:C4025246 Abnormality of cardiac atrium morphology|Abnormality of heart atrium Any structural abnormality of a cardiac atrium. HP:0031430 Oligoclonal T cell expansion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031430 The presence of a population of T cells with a restricted T cell receptor (TCR) repertoire derived from a limited number of TCR clones. HP:0032762 Focal autonomic seizure with pallor/flushing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032762 A type of focal autonomic seizure characterized by changes of the skin as the initial semiological feature. HP:0032761 Focal aware autonomic seizure with pallor/flushing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032761 A focal autonomic seizure with pallor / flushing characterized by retained awareness throughout the seizure. HP:0030100 Abnormal muscle fiber alpha sarcoglycan biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030100 UMLS:C4022645 Abnormal muscle fibre alpha sarcoglycan Deviation from normal in the amount of alpha sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. HP:0031431 Persistent repetition of words biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031431 Repetitive use of words, phrases, intonation, or sounds of speech, often of the speech of others. HP:0030101 Absent muscle fiber alpha sarcoglycan biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030101 UMLS:C4022644 Absent muscle fibre alpha sarcoglycan Lack of alpha sarcoglycan in muscle. Immunohistochemistry reveals absent alpha sarcoglycan protein in the muscle biopsy. HP:0032764 Focal autonomic seizure with erection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032764 A type of focal autonomic seizure characterised by penile erection as the intial semiological feature. HP:0031432 Persistent repetition of actions biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031432 Repeated and inappropriate mechanical repetition of actions. HP:0030102 Reduced muscle fiber alpha sarcoglycan biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030102 UMLS:C4022643 Reduced muscle fibre alpha sarcoglycan A decreased amount of alpha sarcoglycan in muscle. Immunohistochemistry reveals reduced alpha sarcoglycan protein in the muscle biopsy. HP:0032763 Focal autonomic seizure with pupillary dilation/constriction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032763 A type of focal autonomic seizure characterized by pupillary dilatation or contraction as the initial semiological feature. HP:0031433 Alexithymia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031433 Unaware of others' emotions A deficit in emotional awareness characterized by difficulties in recognizing and expressing feelings and emotions manifested as a limited ability to respond to facial clues or other signs of emotions in others often accompanied by detached connections to others. HP:0032760 Focal sensory seizure with hot-cold sensations biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032760 A seizure characterized by sensations of feeling hot or cold as its first clinical manifestation. HP:0030107 Reduced muscle fiber beta sarcoglycan biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030107 UMLS:C4022638 Reduced muscle fibre beta sarcoglycan Immunohistochemistry reveals reduced beta sarcoglycan protein in the muscle biopsy. HP:0031438 Abnormal sex hormone-binding globulin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031438 A deviation from the normal concentration in the circulation of sex hormone-binding globulin, a circulating glycoprotein that transports testosterone and other steroids in the blood. HP:0032769 Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032769 An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by retained awareness throughout the seizure. HP:0031439 Abnormal angiostatin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031439 A deviation from the normal concentration in the circulation of angiostatin, an endogenous angiogenesis inhibitor, which blocks the growth of new blood vessels. HP:0030108 Reduced muscle fiber gamma sarcoglycan biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030108 UMLS:C4022637 Reduced muscle fibre gamma sarcoglycan Immunohistochemistry reveals reduced gamma sarcoglycan protein in the muscle biopsy. HP:0030109 Absent muscle fiber gamma sarcoglycan biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030109 UMLS:C4022636 Absent muscle fibre gamma sarcoglycan Immunohistochemistry shows complete lack of gamma sarcoglycan protein in the muscle biopsy. HP:0030103 Abnormal muscle fiber beta sarcoglycan biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030103 UMLS:C4022642 Abnormal muscle fibre beta sarcoglycan Deviation from normal in the amount of beta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. HP:0031434 Abnormal speech prosody biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031434 An anomaly of the expressive patterns of speech that involve intonation, stress pattern, loudness variations, pausing, articulatory force, and rhythm. HP:0007799 Conjunctival whitish salt-like deposits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007799 UMLS:C1968901 The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis. HP:0006467 Limited shoulder movement biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0006467 UMLS:C1851313 Limited shoulder movement A limitation of the range of movement of the shoulder joint. HP:0005136 Mitral annular calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005136 UMLS:C1835130 Premature calcification of mitral annulus Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus. HP:0032766 Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032766 A type of focal autonomic seizure characterized by changes in respiratory rate as the initial semiological feature. HP:0030104 Abnormal muscle fiber gamma sarcoglycan biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030104 UMLS:C4022641 Abnormal muscle fibre gamma sarcoglycan Deviation from normal in the amount of gamma sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. HP:0031435 Monotonic speech biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031435 A speech pattern characterized by abnormally reduced or lacking variability of the pitch of the voice. HP:0007798 obsolete Foveal dystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007798 HP:0032765 Focal autonomic seizure with urge to urinate/defecate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032765 A type of focal autonomic seizure characterized by an urge to unripe or defecate as the initial semiological feature. HP:0032768 Focal aware autonomic seizure with pupillary dilation/constriction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032768 A focal autonomic seizure with pupillary dilation / constriction characterized by retained awareness throughout the seizure. HP:0030105 Abnormal muscle fiber delta sarcoglycan biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030105 UMLS:C4022640 Abnormal muscle fibre delta sarcoglycan Deviation from normal in the amount of delta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. HP:0031436 Increased pitch variability of speech biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031436 A speech pattern characterized by abnormally elevated variability of the pitch of the voice. HP:0030106 Absent muscle fiber beta sarcoglycan biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030106 UMLS:C4022639 Absent muscle fibre beta sarcoglycan Immunohistochemistry shows complete lack of beta sarcoglycan protein in the muscle biopsy. HP:0032767 Focal autonomic seizure with piloerection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032767 A type of focal autonomic seizure characterized by piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) as the initial semiological feature. HP:0031437 Pregnancy exposure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031437 Exposure during pregnancy Exposure of pregnant women to toxins from any source, such as environmental toxins or chemicals, that may potentially cause problems such as miscarriage, preterm delivery, low birth weight, and, in some cases, developmental delays in infants. HP:0005132 Pericardial constriction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005132 UMLS:C0240709 Compression of the heart caused by rigid, thickened, or fused pericardial membranes. HP:0007795 Anterior cortical cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007795 UMLS:C1857308 A cataract that affects the anterior part of the cortex of the lens. HP:0006463 Rickets of the lower limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006463 UMLS:C1833323 HP:0005133 Right ventricular dilatation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005133 Fyler:2333|Fyler:1827|SNOMEDCT_US:253522006|UMLS:C0344893 Dilated heart right ventricle Enlargement of the chamber of the right ventricle. HP:0005134 Absence of the pulmonary valve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005134 UMLS:C0265831|SNOMEDCT_US:6996004 Absent pulmonary valve Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries. HP:0007797 Retinal vascular malformation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007797 UMLS:C1861791 HP:0006465 Periosteal thickening of long tubular bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006465 UMLS:C1834345 Thickening of the periosteum of long bone. HP:0006466 Ankle flexion contracture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006466 UMLS:C1837407 Ankle contractures|Contractures of the ankles|Ankle 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. HP:0005135 Abnormal T-wave biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005135 UMLS:C4025245 T-wave abnormalities|EKG: T-wave abnormalities An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles. HP:0007791 Patchy atrophy of the retinal pigment epithelium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007791 UMLS:C4024800 Wasting (atrophy) of the retinal pigment epithelium present in small, isolated areas. HP:0006460 Increased laxity of ankles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006460 UMLS:C1850854 HP:0006461 Proximal femoral epiphysiolysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006461 MSH:D060048|UMLS:C0149887 Slipped end part of innermost thighbone|Slipped capital femoral epiphyses|Slipped capilal femoral epiphysis Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt. HP:0007793 Granular macular appearance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007793 UMLS:C4024799 Macular retinal pigment epithelial mottling Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea. HP:0005130 obsolete Restrictive heart failure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005130 HP:0006462 Generalized bone demineralization biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006462 UMLS:C1833326 Generalised bone demineralization A generalized decrease in bone mineral density. HP:0007792 Microsaccadic pursuit biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007792 UMLS:C1843892 HP:0032773 Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032773 A type of focal autonomic seizure characterized by changes in heart rate as the initial semiological feature. HP:0030110 Absent muscle fiber delta sarcoglycan biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030110 UMLS:C4022635 Absent muscle fibre delta sarcoglycan Immunohistochemistry shows complete lack of delta sarcoglycan protein in the muscle biopsy. HP:0031441 Abnormal tricuspid valve annulus morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031441 Any structural anomaly of the annulus of the tricuspid valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach. HP:0031442 Abnormal tricuspid chordae tendinae morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031442 Any structural anomaly of the chordae tendinae of the tricuspid valve. The chordae tendineae connect the papillary muscles to the tricuspid valve. HP:0030111 Reduced muscle fiber delta sarcoglycan biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030111 UMLS:C4022634 Reduced muscle fibre delta sarcoglycan Abnormally reduced amount of delta sarcoglycan in muscle. HP:0032772 Focal impaired awareness autonomic seizure with piloerection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032772 A Focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by impaired awareness at some point during the seizure. HP:0031443 Abnormal tricuspid valve leaflet morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031443 Any structural anomaly of the leaflets (also known as cusps) of the tricuspid valve. HP:0032775 Focal impaired awareness autonomic seizure with hypoventilation/hyperventilation/altered respiration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032775 An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by impaired awareness at some point during the seizure. HP:0030112 Abnormal muscle fiber alpha dystroglycan biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030112 UMLS:C4022633 Abnormal muscle fibre 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. HP:0030113 Abnormal muscle fiber dysferlin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030113 UMLS:C4022632 Abnormal muscle fibre dysferlin A deviation from normal in the expression of dysferlin in muscle tissue. Dysferlin is an ubiquitous 230-KDa transmembrane protein involved in calcium-mediated sarcolemma resealing. HP:0031444 Dilatation of the tricuspid annulus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031444 An increase in the diameter of the ring (annulus) of the tricuspid valve. HP:0032774 Focal impaired awareness autonomic seizure with urge to urinate/defecate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032774 A focal autonomic seizure with urge to urinate / defecate characterized by impaired awareness at some point during the seizure. HP:0032771 Focal autonomic seizure with lacrimation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032771 A type of focal autonomic seizure characterized by lacrimation as the initial semiological feature. HP:0031440 obsolete Abnormal tricuspid valve morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031440 HP:0032770 Focal aware autonomic seizure with erection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032770 A focal autonomic seizure with erection characterized by retained awareness throughout the seizure. HP:0006438 Enlargement of the distal femoral epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006438 UMLS:C1843105 Large distal femoral epiphyses|Enlargement of the outermost thighbone end part An abnormal enlargement of the distal epiphysis of the femur. HP:0031449 Perineal hemangioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031449 Hemangioma, a benign tumor of the vascular endothelial cells, located in the perineal region, i.e., the region between the anus and the genitals. HP:0005107 Abnormal sacrum morphology biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0005107 UMLS:C4025250 Abnormality of the sacrum An abnormality of the sacral bone. HP:0030118 Reduced muscle fiber emerin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030118 UMLS:C4022627 Reduced muscle fibre emerin Immunohistochemistry reveals reduced emerin protein in the muscle biopsy. HP:0030119 Abnormal muscle fiber calpain-3 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030119 UMLS:C4022626 Abnormal muscle fibre 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. HP:0006439 Radioulnar dislocation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006439 UMLS:C2673394 Dislocated radioulnar joints HP:0005108 Abnormality of the intervertebral disk biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0005108 UMLS:C4025249 Abnormality of the intervertebral disc An abnormality of the intervertebral disk. HP:0007769 Peripheral retinal degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007769 SNOMEDCT_US:405721006|UMLS:C1320640|SNOMEDCT_US:61536007 HP:0005109 Abnormality of the Achilles tendon biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005109 UMLS:C4021642 Abnormality of the calcaneal tendon|Abnormality of the Achilles tendon An abnormality of the Achilles tendon. HP:0005103 Calcification of the auricular cartilage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005103 UMLS:C1408806 Petrified ear|Cartilaginous ossification of pinnae|Ear cartilage calcification|Ossification of pinnae Ossification affecting the external ear cartilage. HP:0007766 Optic disc hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007766 UMLS:C1298695|SNOMEDCT_US:373650004 Hypoplastic optic disks Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve. HP:0031445 Oral mucosa nodule biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031445 A palpable, solid lesion greater than 5mm in diameter. that is located in the mucosa of the mouth. HP:0030114 Absent muscle fiber dysferlin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030114 UMLS:C4022631 Absent muscle fibre dysferlin Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy. HP:0006434 Hypoplasia of proximal radius biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006434 UMLS:C1859477 Proximal radial shortening Proximal radial shortening owing to a congenital defect of development. HP:0032777 Focal impaired awareness autonomic seizure with pallor/flushing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032777 A focal autonomic seizure with pallor / flushing characterized by impaired awareness at some point during the seizure. HP:0005104 Hypoplastic nasal septum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005104 UMLS:C1861328 Hypoplasia of septum of nose|Small nasal septum|Decreased size of nasal septum|Small septum of nose|Decreased size of septum of nose Underdevelopment of the nasal septum. HP:0031446 Erosion of oral mucosa biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031446 Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion. HP:0007765 Deep anterior chamber biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007765 UMLS:C0423280|SNOMEDCT_US:246991003 Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased. HP:0032776 Focal aware autonomic seizure with lacrimation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032776 HP:0030115 Reduced muscle fiber dysferlin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030115 UMLS:C4022630 Reduced muscle fibre dysferlin Immunohistochemistry reveals reduced dysferlin protein in the muscle biopsy. HP:0030116 Abnormal muscle fiber emerin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030116 UMLS:C4022629 Abnormal muscle fibre emerin A deviation from normal of the amount of the inner nuclear membrane protein emerin in muscle tissue. HP:0006436 obsolete Shortening of the tibia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006436 HP:0005105 Abnormal nasal morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005105 Fyler:4870|UMLS:C4025252 Abnormal nose morphology|Abnormal of shape of nose|Abnormal of nasal shape|Abnormal of morphology of nose HP:0007768 Central retinal vessel vascular tortuosity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007768 UMLS:C4021569 Tortuosity of main retinal vessels The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules). HP:0032779 Focal impaired awareness autonomic seizure with pupillary dilation/constriction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032779 A focal autonomic seizure with pupillary dilation / constriction characterized by impaired awareness at some point during the seizure. HP:0031447 Penile freckling biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031447 Multiple pigmented macules located on the skin of the penis. HP:0030117 Absent muscle fiber emerin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030117 UMLS:C4022628 Absent muscle fibre emerin Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy. HP:0005106 Abnormality of the vertebral endplates biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005106 UMLS:C4025251 Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs. HP:0032778 Focal impaired awareness autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032778 A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by impaired awareness at some point during the seizure. HP:0031448 Herpetiform vesicles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031448 Multiple vesicles distributed in multiple distinct groups consisting of multiple adjacent vesicles. HP:0006437 Disproportionate prominence of the femoral medial condyle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006437 UMLS:C1834392 HP:0006431 Proximal femoral metaphyseal abnormality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006431 UMLS:C4025047 Abnormal wide portion of innermost thighbone An anomaly of the metaphysis of the proximal femur (close to the hip). HP:0007761 Pericentral scotoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007761 SNOMEDCT_US:404650002|UMLS:C1321308 A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point. HP:0005100 Premature birth following premature rupture of fetal membranes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005100 UMLS:C1851833 Premature birth following premature rupture of foetal membranes HP:0006432 Trapezoidal distal femoral condyles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006432 UMLS:C1843983 HP:0005101 High-frequency hearing impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005101 SNOMEDCT_US:232326009|UMLS:C0018780|SNOMEDCT_US:48758008|MSH:D006316 Progressive high frequency hearing loss|Hearing loss, high-frequency|Progressive high-frequency hearing loss|High-frequency deafness|High frequency hearing loss A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz). HP:0007763 Retinal telangiectasia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0007763 UMLS:C0154835|SNOMEDCT_US:84884003 Dilatation of small blood vessels of the retina. HP:0005102 Cochlear degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005102 UMLS:C1849095 Progressive cochlear degeneration Deterioration or loss of the tissues of the cochlea. HP:0006433 Radial dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006433 UMLS:C4025046 Radial longitudinal deficiency|Dysplastic radii 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. HP:0007760 Crystalline corneal dystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007760 MSH:C535475|SNOMEDCT_US:39662004|SNOMEDCT_US:419395007|UMLS:C0271287 HP:0030121 Reduced muscle fiber calpain-3 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030121 UMLS:C4022624 Reduced muscle fibre calpain-3 Western blot reveals reduced calpain-3 protein in the muscle biopsy tissue. HP:0032784 Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032784 An autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by retained awareness throughout the seizure. HP:0031452 Lichenoid skin lesion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031452 Mutliple skin lesions resembling those characteristic of the disease lichen planus. These lesions are violaceous (reddish-purple), shiny, isolated, flat-topped papules and plaques. HP:0031453 Oral lichenoid lesion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031453 Mutliple lesions of the oral mucosa resembling those characteristic of the disease lichen planus. These are symmetric reticular lesions that resemble a white, lacelike network, as well as by papules, plaques, erythematous lesions, and erosions. HP:0032783 Focal aware autonomic seizure with piloerection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032783 A focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by retained awareness throughout the seizure. HP:0030122 Reduced muscle fiber perlecan biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030122 UMLS:C4022623 Reduced muscle fibre perlecan Immunohistochemistry reveals reduced perlecan protein in the muscle biopsy. Perlecan is a basement membrane-specific heparan sulfate proteoglycan core protein (HSPG) also known as heparan sulfate proteoglycan 2 (HSPG2). HP:0032786 Migrating focal seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032786 Migrating partial seizure A migrating focal seizure is a seizure that involves different body parts, usually without overlap, in a consecutive manner so that the offset of a seizure in one part coincides with its onset in another, even shifting multiple times between the sides of the body. They can be associated with autonomic manifestations. HP:0031454 Apocrine hidrocystoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031454 A cystic lesions that forms a benign tumor of an apocrine sweat gland. HP:0030123 Abnormal muscle fiber lamin A/C biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030123 UMLS:C4022622 Abnormal muscle fibre lamin A/C A deviation from the normal amount of lamin A/C in muscle tissue. The LMNA gene gives rise to at least three splicing isoforms including the two main isoforms, lamin A and lamin C. These are constitutive components of the fibrous nuclear lamina and have different roles, ranging from mechanical nuclear membrane maintenance to gene regulation. HP:0031455 Presacral ganglioneuroma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031455 A gangioleneuroma originating from sympathetic ganglion cells in the abdomen. HP:0030124 Reduced muscle fiber lamin A/C biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030124 UMLS:C4022621 Reduced muscle fibre lamin A/C A decreased amount of lamin A/C in muscle tissue. This feature can be shown by immunohistochemistry of Western blotting of muscle tissue. HP:0032785 Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032785 A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by retained awareness throughout the seizure. HP:0032780 Focal impaired awareness autonomic seizure with erection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032780 A focal autonomic seizure with erection characterized by impairment of awareness at some point during the seizure. HP:0032782 Focal impaired awareness autonomic seizure with lacrimation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032782 A focal autonomic seizure with lacrimation characterized by impaired awareness at some point during the seizure. HP:0031450 Polycyclic biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031450 A distribution of skin lesions resembling multiple merged circles. For instance, this can be seen with multiple urticarial wheals as the individual, circular wheals resolve and merge. HP:0031451 Lower extremity subcutanous fat hypertrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031451 An abnormal increase in the amount of subcutaneous fat in the legs. HP:0030120 Absent muscle fiber calpain-3 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030120 UMLS:C4022625 Absent muscle fibre calpain-3 Western blot shows complete lack of calpain-3 protein in the muscle biopsy tissue. HP:0032781 Focal aware autonomic seizure with urge to urinate/defecate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032781 A focal autonomic seizure with urge to urinate / defecate characterized by retained awareness throughout the seizure. HP:0030129 Impaired ristocetin cofactor assay activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030129 UMLS:C4022619 Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin to platelet-poor plasma. HP:0006449 Distal radial epiphyseal osteolysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006449 UMLS:C1850145 HP:0032788 Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032788 A focal autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by impaired awareness at some point during the seizure. HP:0031456 Ectopic pregnancy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031456 A pregnancy in which the fertilized egg inserts in a location outside of the main cavity of the uterus (usually in the Fallopian tube). HP:0030125 Sacralization of the fifth lumbar vertebra biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030125 UMLS:C4021052 L5 sacralization A congenital anomaly, in which the transverse process of the last lumbar vertebra (L5) fuses to the sacrum on one side or both, or to ilium, or both. HP:0007777 Chorioretinal scar biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007777 UMLS:C0008512|SNOMEDCT_US:53854005 Fibrous connective tissue resulting from incomplete healing of a wound (i.e., a scar) located in the choroid and retina or the eye. HP:0005114 obsolete Abnormalities of the peripheral arteries biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005114 HP:0032787 Focal impaired awareness sensory seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032787 A focal sensory seizure in which awareness is partially or fully impaired at some point during the seizure. HP:0007776 Sparse lower eyelashes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007776 UMLS:C1835148 Hypotrichosis of lower eyelashes|Sparse lower eyelashes|Partial absence of lower eyelashes|Thin lower eyelashes|Scanty lower eyelashes HP:0031457 Pulmonary opacity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031457 Any lesion observed on an imaging study of the lung that is associated with increased density (usually showing as increased whiteness in the image). HP:0006446 Dysplastic patella biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006446 UMLS:C1849580 HP:0005115 Supraventricular arrhythmia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005115 SNOMEDCT_US:72654001|UMLS:C0428974 arrhythmias, Supraventricular 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. HP:0030126 Abnormality of the endometrium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030126 UMLS:C4022620 An anomaly of the inner mucous membrane of the uterus. HP:0030127 Endometriosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030127 SNOMEDCT_US:129103003|UMLS:C0014175|MSH:D004715|SNOMEDCT_US:396224008 The growth of endometrial tissue outside the uterus. HP:0005116 Arterial tortuosity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005116 UMLS:C3279191 Abnormal tortuous (i.e., twisted) form of arteries. HP:0031458 Adenoiditis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031458 An inflammation of the adenoid tissue. HP:0007779 Anterior segment of eye aplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007779 UMLS:C1853234 HP:0005117 Elevated diastolic blood pressure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005117 UMLS:C1840375 Elevated diastolic BP Abnormal increase in diastolic blood pressure. HP:0031459 Soft tissue neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031459 A tumor (abnormal growth of tissue) that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms. HP:0007778 Posterior retinal neovascularization biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007778 UMLS:C4024803 Posterior retinal neovascularisation|Neovascularization of peripheral and posterior retina A type of retinal neovascularization that affects the posterior pole of the retina. HP:0032789 Focal aware behavior arrest seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032789 Focal aware behaviour arrest seizure A focal behavior arrest seizure characterised by retained awareness throughout the seizure. HP:0005110 Atrial fibrillation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005110 UMLS:C0004238|MSH:D001281|SNOMEDCT_US:49436004 Quivering upper heart chambers resulting in irregular heartbeat An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute. HP:0006441 Lateral humeral condyle aplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006441 UMLS:C1833878 HP:0007773 Vitreoretinopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007773 UMLS:C1850109 Vitreoretinal abnormality|Vitreoretinal degeneration Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. HP:0005111 obsolete Dilatation of the ascending aorta biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005111 HP:0007772 Impaired smooth pursuit biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0007772 UMLS:C1837458|UMLS:C1848530 Abnormality of visual tracking|Abnormal visual pursuit|Impairment of visual pursuit An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion. HP:0006442 Hypoplasia of proximal fibula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006442 UMLS:C1859478 Small innermost upper end of calf bone|Underdeveloped innermost upper end of calf bone Underdevelopment or shortening of the end of the fibula (calf bone) nearest the knee. HP:0006443 Patellar aplasia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0006443 UMLS:C1868578 Absent patellae|Absent kneecap|Absent patella|Absent patellas|Aplastic patellae Absence of the patella. HP:0005112 Abdominal aortic aneurysm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005112 UMLS:C4025248 Dilatation of the abdominal aorta An abnormal localized widening (dilatation) of the abdominal aorta. HP:0007774 Hypoplasia of the ciliary body biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007774 UMLS:C1836890 Underdevelopment of the ciliary body. HP:0005113 Aortic arch aneurysm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005113 Fyler:2706|UMLS:C1851119 Dilatation of the aortic arch|Aortic arch dilatation An abnormal localized widening (dilatation) of the aortic arch. HP:0007770 Hypoplasia of the retina biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007770 UMLS:C1854685 Underdeveloped retina|Retinal hypoplasia HP:0006440 Increased density of long bone diaphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006440 UMLS:C1844516 Increased density of shaft of long bone HP:0005170 Complete heart block with broad QRS complexes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005170 UMLS:C1861987 A type of third degree heart block in which the escape rhythm arises at a relatively low part of the conduction system (below the atrioventricular node), which produces a wide QRS complex. HP:0032715 Focal bilateral motor seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032715 A type of focal motor seizure (it commences in one hemisphere) involving bilateral muscle groups rapidly at seizure onset. HP:0032714 Focal impaired awareness bilateral motor seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032714 A focal bilateral motor seizure characterized by impairment of awareness at some point during the seizure. HP:0032717 Focal impaired awareness motor seizure with dystonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032717 Focal motor impaired awareness seizure with dystonia A focal motor seizure with dystonia characterized by impaired awareness at some point during the seizure. HP:0032716 Focal impaired awareness non-motor seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032716 Focal non-motor impaired awareness seizure A focal non-motor seizure characterized by impaired awareness at some point during the seizure. HP:0032711 Focal aware clonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032711 A type of focal clonic seizure during which awareness is fully retained throughout. HP:0032710 Focal aware cognitive seizure with receptive dysphasia/aphasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032710 A focal cognitive seizure with receptive dysphasia / aphasia characterized by retained awareness throughout the seizure. HP:0032713 Focal impaired awareness motor seizure with version biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032713 Focal motor impaired awareness seizure with version A focal motor seizure with version characterized by impaired awareness at some point during the seizure. HP:0032712 Focal impaired awareness motor seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032712 Focal motor impaired awareness seizure A type of focal motor seizure in which awareness is partially or fully impaired at some point during the seizure. HP:0006496 Aplasia/hypoplasia involving bones of the upper limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006496 UMLS:C4025035 Absent/small bones of the upper limbs|Absent/underdeveloped bones of the upper limbs Absence (due to failure to form) or underdevelopment of the bones of the upper limbs. HP:0005165 Shortened PR interval biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005165 SNOMEDCT_US:49578007|UMLS:C0520878 Shortened PR interval on EKG|Electrocardiographic short PR interval|Short P-R interval Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long. HP:0006498 Aplasia/Hypoplasia of the patella biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006498 UMLS:C1868577|MSH:C535568 Aplastic or hypoplastic patellae|Absent/small kneecap|Hypoplastic or absent patella|Small to absent patellae|Absent/hypoplastic patella|Absent or hypoplastic patellae|Absent/underdeveloped kneecap|Patellar aplasia/hypoplasia Absence or underdevelopment of the patella. HP:0006499 Abnormality of femoral epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006499 UMLS:C4025034 Abnormality of thighbone end part An anomaly of a growth plate of a femur. HP:0005168 Elevated right atrial pressure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005168 UMLS:C1867421 An abnormal increase in magnitude of the pressure in the right atrium. HP:0032719 Focal impaired awareness motor seizure with dysarthria/anarthria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032719 Focal motor impaired awareness seizure with dysarthria/anarthria A focal motor seizure with dysarthria / anarthria characterized by impaired awareness at some point during the seizure. HP:0006492 Aplasia/Hypoplasia of the fibula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006492 UMLS:C1856732 Absent/small calf bone|Fibular aplasia/hypoplasia|Hypoplastic/aplastic fibulae|Absent/underdeveloped calf bone Absence or underdevelopment of the fibula. HP:0005162 Abnormal left ventricular function biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005162 UMLS:C0023212|MSH:D006333|UMLS:C0553982|SNOMEDCT_US:85232009|SNOMEDCT_US:275514001 Left ventricular dysfunction|Left ventricular failure|Left-sided heart failure|Impaired left ventricular function|Left ventricular impairment Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole. HP:0006493 Aplasia/hypoplasia involving bones of the lower limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006493 UMLS:C4025037 Absent/underdeveloped lower limb bones|Absent/small lower limb bones Absence (due to failure to form) or underdevelopment of the bones of the lower limbs. HP:0032718 Focal motor seizure with dystonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032718 A focal motor seizure in which the initial semiological manifestation is the sustained contraction of both agonist and antagonist muscles producing athetoid or twisting movements, which produces abnormal postures. HP:0006494 Aplasia/Hypoplasia involving bones of the feet biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006494 UMLS:C4025036 Absent/small foot bones|Absent/underdeveloped foot bones HP:0006495 Aplasia/Hypoplasia of the ulna biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006495 UMLS:C1865571 Hypoplasia or unilateral/bilateral absence of ulna|Absent-hypoplastic ulnae|Absence/underdevelopment of inner forearm bone|ulnar hypoplasia/aplasia|Absent/small ulna Absence or underdevelopment of the ulna. HP:0005164 Dysplastic pulmonary valve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005164 UMLS:C1866206 A congenital malformation of the pulmonary valve characterized by leaflet deformation. HP:0005180 Tricuspid regurgitation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005180 UMLS:C0040961|SNOMEDCT_US:111287006|MSH:D014262|Fyler:1161 Tricuspid valve regurgitation|Tricuspid insufficiency Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium. HP:0005181 Premature coronary artery atherosclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005181 UMLS:C1867743 Premature coronary artery disease Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45. HP:0005182 Bicuspid pulmonary valve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005182 Fyler:1601|SNOMEDCT_US:253599005|UMLS:C0344987 The presence of a bicuspid pulmonary valve. HP:0032720 Focal motor seizure with dysarthria/anarthria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032720 A type of focal motor seizure characterized by difficulty with articulation of speech, due to impaired coordination of muscles involved in speech sound production as the initial semiological manifestation. Receptive and expressive language functions are intact, however speech is poorly articulated and is less intelligible. HP:0032726 Focal impaired awareness hyperkinetic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032726 A focal hyperkinetic seizure in which awareness is partially or fully impaired at some point during the seizure. HP:0032725 Focal impaired awareness clonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032725 A type of focal clonic seizure during which awareness is partially or fully impaired at some point in the seizure. HP:0032728 Focal impaired awareness atonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032728 A focal atonic seizure in which awareness is partially or fully impaired at some point during the seizure. HP:0032727 Focal emotional seizure with agitation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032727 Focal emotional seizure with agitation is characterized by the presence of psychomotor agitation as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures. HP:0032722 Focal aware tonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032722 A type of focal tonic seizure during which awareness is fully retained throughout. HP:0032721 Focal motor seizure with paresis/paralysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032721 A focal motor seizure characterized by weakness or complete paralysis of a muscle or group of muscles as the initial semiological manifestation. HP:0032724 Focal impaired awareness tonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032724 A focal tonic seizure in which awareness is partially or fully impaired at some point during the seizure. HP:0032723 Focal aware motor seizure with dystonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032723 Focal motor aware seizure with dystonia A focal motor seizure with dystonia characterized by retained awareness throughout the seizure. HP:0005176 Dysplastic aortic valve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005176 UMLS:C1866207 A congenital malformation of the aortic valve characterized by leaflet deformation. HP:0005177 Premature arteriosclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005177 UMLS:C1848486|UMLS:C4280503 Premature hardening of arteries Arteriosclerosis occurring at an age that is younger than usual. HP:0005178 Complete heart block with narrow QRS complexes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005178 UMLS:C1841661 A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex. HP:0005172 Left posterior fascicular block biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005172 UMLS:C0264913|SNOMEDCT_US:62026008 Left posterior hemiblock Conduction block in the posterior division of the left bundle branch of the bundle of His. HP:0005173 obsolete Calcific aortic valve stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005173 HP:0032729 Focal emotional seizure with pleasure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032729 Focal emotional seizure with pleasure is characterized by the presence of a positive emotional experience with pleasure, bliss, joy, enhanced personal well-being, heightened self-awareness or ecstasy. HP:0005174 Membranous subvalvular aortic stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005174 UMLS:C1848978 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. HP:0006480 Premature loss of teeth biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0006480 UMLS:C0232513|UMLS:C0399385|SNOMEDCT_US:234974002|SNOMEDCT_US:42756003 Premature exfoliation of teeth|Premature tooth loss|Premature teeth loss|Early tooth loss|Loss of teeth Premature loss of teeth not related to trauma or neglect. HP:0032731 Focal aware hyperkinetic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032731 A type of focal hypermotor seizure during which awareness is fully retained throughout. HP:0032730 Focal impaired awareness myoclonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032730 A focal myoclonic seizure in which awareness is partially or fully impaired at some point during the seizure. HP:0031405 Poroma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031405 A benign, well circumscribed sweat gland neoplasm with eccrine or apocrine differentiation. It usually presents as a solitary, dome-shaped papule, nodule, or plaque on acral sites. It is characterized by a proliferation of uniform basaloid cells in the dermis and it is associated with the presence of focal ductal and cystic structures [NCIT:C27273]. HP:0032737 Focal emotional seizure with paranoia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032737 Focal emotional seizure with paranoia is characterized by the presence of paranoia as an expressed or observed emotion at the outset of the seizure. HP:0032736 Focal emotional seizure with anger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032736 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. HP:0031406 Abnormal cytokine signaling biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031406 Abnormal cytokine signalling 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. HP:0031407 Impaired cytokine signaling biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031407 Impaired cytokine signalling|Cytokine signaling defect A defect or impairment in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription. HP:0032739 Focal emotional seizure with fear/anxiety/panic biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032739 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. HP:0032738 Focal aware emotional seizure with fear/anxiety/panic biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032738 Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is retained throughout. HP:0031408 Increased proportion of CD25+ mast cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031408 An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain). HP:0005147 Bidirectional ventricular ectopy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005147 UMLS:C1969410 HP:0031401 Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031401 An abnormally decreased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells. HP:0032733 Focal aware motor seizure with dysarthria/anarthria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032733 Focal motor aware seizure with dysarthria/anarthria A focal motor seizure with dysarthria / anarthria characterized by retained awareness throughout the seizure. HP:0006479 Abnormality of the dental pulp biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006479 UMLS:C4025042 Endodontic abnormality|Abnormality of tooth pulp An abnormality of the dental pulp. HP:0031402 Reduced antigen-specific T cell proliferation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031402 Impaired activated T cell proliferation|Antigen-specific T cell proliferation defect|Impaired cellular adaptive immune response|Impaired Ag-specific T cell proliferation Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus. HP:0005148 Pulmonary valve defects biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005148 UMLS:C1860165 Any defect in the valve connecting the heart and the pulmonary artery. HP:0032732 Focal aware motor seizure with paresis/paralysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032732 Focal motor aware seizure with paresis/paralysis A focal motor seizure with paresis / paralysis characterized by retained awareness throughout the seizure. HP:0032735 Focal aware emotional seizure with anger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032735 Focal emotional seizure with anger in which awareness is retained throughout. HP:0031403 Impaired pathogen-specific CD8 cytoxicity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031403 Pathogen-specific CD8 cytoxicity defect Impaired response of CD8 T cells to pathogens. CD8 T cells direct the killing of a target cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors. HP:0031404 Impaired antigen-specific response biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031404 Impaired adaptive immune response An impaired immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). HP:0032734 Focal aware emotional seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032734 A focal emotional seizure during which awareness is retained throughout the seizure. HP:0005143 Anomalous origin of right pulmonary artery from ascending aorta biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005143 UMLS:C0345037|SNOMEDCT_US:253634009 The right pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery. HP:0005144 Ventricular septal hypertrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005144 UMLS:C1845019 Thickened interventricular septum The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle. HP:0006476 Abnormality of the pancreatic islet cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006476 UMLS:C4025043 An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin. HP:0005145 Coronary artery stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005145 UMLS:C0242231|SNOMEDCT_US:233970002|MSH:D023921 Narrowing of coronary artery Abnormal narrowing of the coronary artery. HP:0005146 Cardiac valve calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005146 UMLS:C1856483 Calcifications of the cardiac valves Abnormal calcification of a cardiac valve. HP:0006477 Abnormality of the alveolar ridges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006477 UMLS:C0341007|SNOMEDCT_US:235013007|UMLS:C4280445 Abnormality of alveolar margin|Abnormality of dentoalveolar ridges|Abnormality of alveolar processes of jaw|Defect in alveolar ridge|Abnormality of gum ridge Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth. HP:0006470 Thin long bone diaphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006470 UMLS:C1859449 Thin shaft of long bone|Thin diaphyses of long bones Decreased width of the diaphysis of long bones. HP:0031409 Abnormal lymphocyte physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031409 Any anomaly of lymphocyte function. HP:0006471 Fixed elbow flexion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006471 UMLS:C4025044 HP:0005141 obsolete Episodes of ventricular tachycardia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005141 HP:0006473 Anterior bowing of long bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006473 UMLS:C1850644 An abnormal anterior curvature of a long bone. HP:0006490 Abnormality of lower-limb metaphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006490 UMLS:C4025039 Abnormality of the wide portion of the lower-limb bone HP:0005160 Total anomalous pulmonary venous return biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005160 Fyler:900|Fyler:0900|UMLS:C0036400|SNOMEDCT_US:39905002|SNOMEDCT_US:111323005|MSH:D012587 Total anomalous pulmonary venous drainage|Total anomalous pulmonary venous connection Total anomalous pulmonary venous return refers to a congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium. HP:0006491 Abnormality of the tibial metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006491 UMLS:C4025038 Abnormality of the wide portion of shankbone|Abnormality of the wide portion of shinbone HP:0032740 Focal aware autonomic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032740 Partial autonomic seizures without altered responsiveness|Focal autonomic seizures without altered responsiveness|Localized autonomic seizures without altered responsiveness A focal autonomic seizure characterised by retained awareness throughout the seizure. HP:0031410 Abnormal distribution of CD56 bright/dim natural killer cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031410 Abnormal distribution of CD56 bright/dim NK cells An abnormal distribution in the number of CD56 bright NK cells, as measured by flow cytometry. CD56, an adhesion molecule mediating homotypic adhesion, is used as a functional marker for NK cells. HP:0032742 Focal aware emotional seizure with pleasure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032742 Focal emotional seizure with pleasure in which awareness is retained throughout. HP:0031411 Abnormal chromosome morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031411 Fyler:4013 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. HP:0032741 Focal aware emotional seizure with paranoia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032741 Focal emotional seizure with paranoia in which awareness is retained throughout. HP:0032748 Focal impaired awareness emotional seizure with anger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032748 Focal emotional seizure with anger in which awareness is partially or fully impaired at some point during the seizure. HP:0031416 Abnormal nasal mucus secretion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031416 Any deviation from the normal quantity of secretion of nasal mucus, a thick viscous liquid produced by the mucous membranes of the nose. HP:0031417 Rhinorrhea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031417 Runny Nose|Nasal Discharge Increased discharge of mucus from the nose. HP:0032747 Focal impaired awareness emotional seizure with pleasure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032747 Focal emotional seizure with pleasure in which awareness is partially or fully impaired at some point during the seizure. HP:0031418 Increased body mass index biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031418 Increased BMI Abnormally increased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of overweight compared to averages. HP:0032749 Focal impaired awareness emotional seizure with paranoia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032749 Focal emotional seizure with paranoia in which awareness is partially or fully impaired at some point during the seizure. HP:0031419 Reduced sex -hormone binding protein level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031419 Reduced androgen-binding protein level A decreased concentration of sex-hormone binding protein in the circulation. HP:0031412 Abnormal telomere morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031412 HP:0006489 Abnormality of the femoral metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006489 UMLS:C4280444|UMLS:C4025040 Abnormality of the wide portion of the femoral bone An anomaly of the femoral metaphysis. HP:0032744 Focal aware emotional seizure with agitation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032744 Focal emotional seizure with agitation in which awareness is retained throughout. HP:0032743 Focal aware emotional seizure with crying biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032743 Focal emotional seizure with crying (dacrystic)in which awareness is retained throughout. HP:0031413 Short telomere length biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031413 An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur. HP:0031414 High serum calcifediol biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031414 High serum 25-hydroxycholecalciferol|High serum calcidiol An increased concentration of calcifediol in the blood. Calcifediol is also known as 25-hydroxycholecalciferol or 25-Hydroxyvitamin D3. HP:0032746 Focal impaired awareness emotional seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032746 A focal emotional seizure in which awareness is partially or fully impaired at some point during the seizure. HP:0031415 High serum calcitriol biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031415 UMLS:C1833331 Increased serum 1,25-dihydroxyvitamin D3|High serum 1,25-dihydroxycholecalciferol|High serum 1,25-dihydroxyvitamin D3|Increased serum calcitriol An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3. HP:0032745 Focal aware emotional seizure with laughing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032745 Focal emotional seizure with laughing in which awareness is retained throughout. HP:0006485 Agenesis of incisor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006485 UMLS:C4020816|UMLS:C4083290|UMLS:C4020815 Missing front tooth|Absence of front tooth|Failure of development of incisor|Missing incisors|Absence of incisors Agenesis of incisor. HP:0006486 Abnormality of the dental root biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006486 UMLS:C4025041 Abnormality of the dental root|Abnormality of tooth root An abnormality of the dental root. HP:0005155 Ventricular escape rhythm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005155 UMLS:C0232216|SNOMEDCT_US:81898007 Idioventricular escape rhythm A ventircular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes (at least 120 ms). HP:0006487 Bowing of the long bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006487 UMLS:C1855340 Diaphyseal bowing|Bowing of long bones|Diaphyseal bowing of long bones|Bowing of the long bones|Camptomelia|Bowed long bones A bending or abnormal curvature of a long bone. HP:0005156 Hypoplastic left atrium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005156 Fyler:3040|UMLS:C1970625 Left atrium hypoplasia|Underdeveloped left heart atrium Underdeveloped, small left heart atrium HP:0005157 Concentric hypertrophic cardiomyopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005157 UMLS:C0238044 Symmetric, concentric, hypertrophic cardiomyopathy Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy. HP:0006488 Bowing of the arm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006488 UMLS:C0426863 Bowing of the arm|Bending of the arm A bending or abnormal curvature affecting a long bone of the arm. HP:0006481 Abnormality of primary teeth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006481 UMLS:C4021596 Abnormality of baby teeth|Abnormality of deciduous teeth|Abnormality of milk teeth Any abnormality of the primary tooth. HP:0005150 Abnormal atrioventricular conduction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005150 UMLS:C4025244 An impairment of the electrical continuity between the atria and ventricles. HP:0005151 Preductal coarctation of the aorta biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005151 UMLS:C0265878|SNOMEDCT_US:13867009 Proximal aortic coarctation Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch. HP:0006482 Abnormality of dental morphology biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0006482 MSH:D014071|UMLS:C0262444|UMLS:C0040427|SNOMEDCT_US:422775003 Abnormally shaped teeth|Dental malformations|Malformation of teeth|Misshapen teeth|Dental deformity|Abnormality of shape of tooth|Malformed teeth|Deformity of teeth|Abnormality of dental shape|Misshapened teeth An abnormality of the morphology of the tooth. HP:0006483 Abnormal number of teeth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006483 SNOMEDCT_US:335443002|UMLS:C1290508 Abnormal number of teeth|Abnormal complement of teeth|Abnormal tooth count The presence of an altered number of of teeth. HP:0005152 Histiocytoid cardiomyopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005152 UMLS:C1708371|MSH:C535584 Oncocytic cardiomyopathy|Myocardial or conduction system hamartoma|Infantile xanthomatous cardiomyopathy|Foamy myocardial transformation|Isolated cardiac lipidosis|Infantile cardiomyopathy with histiocytoid changes|Focal lipid cardiomyopathy|Arachnocytosis of the myocardium A type of cardiomyopathy characterized pathologically by hamartomatous lesions of cardiac Purkinje cells. HP:0007708 Absent inner eyelashes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007708 UMLS:C4024812 Absent inner eyelashes HP:0007707 Congenital aphakia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007707 UMLS:C1853230|MSH:C537786 Lens agenesis Absence of the crystalline lens of the eye as a result of a developmental defect. HP:0007709 Band-shaped corneal dystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007709 UMLS:C0155120|MSH:C562399|SNOMEDCT_US:35055000 HP:0007704 Paroxysmal involuntary eye movements biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007704 UMLS:C1847515 Abnormal eye movements, paroxysmal Sudden-onset episode of abnormal, involuntary eye movements. HP:0007703 Abnormality of retinal pigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007703 UMLS:C1862475|SNOMEDCT_US:421689001|UMLS:C1720508 Abnormality of the retinal pigment epithelium|Abnormality of RPE|Abnormal retinal pigmentation|Retinal pigmentary anomaly|Abnormality of retinal pigment epithelium HP:0007705 Corneal degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007705 SNOMEDCT_US:111521006|UMLS:C0155118 HP:0007700 Ocular anterior segment dysgenesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007700 SNOMEDCT_US:65075004|UMLS:C0266525 Anterior chamber cleavage disorder|Anterior segment developmental abnormality|Anterior chamber malformation|Anterior segment dysgenesis|Anterior chamber mesodermal anomalies|Anterior segment mesencyhmal dysgenesis|Anterior segment ocular dysgenesis|Anterior chamber cleavage defect Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin. HP:0007702 obsolete Pigmentary retinal deposits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007702 HP:0007715 Weak extraocular muscles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007715 UMLS:C1859436 HP:0007717 Chronic irritative conjunctivitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007717 UMLS:C4024810 A chronic irritative conjunctivitis, which commonly presents with general irritation and redness of the eyes, with a burning, dry, or foreign-body sensation of the eyes. HP:0007716 Uveal melanoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007716 MSH:C536494|UMLS:C0220633|NCIT:C3224 Intraocular melanoma A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid). HP:0007710 Peripheral vitreous opacities biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007710 UMLS:C4024811 HP:0007713 obsolete Juvenile zonular cataracts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007713 HP:0007712 obsolete Choroidal dystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007712 HP:0032704 Focal aware cognitive seizure with illusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032704 A focal cognitive seizure with illusion characterized by retained awareness throughout the seizure. HP:0032703 obsolete Hallucinatory aura biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032703 HP:0032706 Focal aware cognitive seizure with left-right confusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032706 A focal cognitive seizure with left-right confusion characterized by retained awareness throughout the seizure. HP:0032705 Focal aware cognitive seizure with forced thinking biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032705 A focal cognitive seizure with forced thinking characterized by retained awareness throughout the seizure. HP:0032700 Focal cognitive seizure with left-right confusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032700 A focal cognitive seizure characterized by left-right confusion as the initial semiological manifestation. HP:0032702 Focal cognitive seizure with expressive dysphasia/aphasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032702 A focal cognitive seizure characterized by expressive dysphasia / aphasia as the initial semiological manifestation. HP:0032701 Focal cognitive seizure with anomia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032701 A focal cognitive seizure characterized by anomia as the initial semiological manifestation. HP:0032708 Focal aware cognitive seizure with anomia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032708 A focal cognitive seizure with anomia characterized by retained awareness throughout the seizure. HP:0032707 Focal aware cognitive seizure with dyslexia/alexia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032707 A focal cognitive seizure with dyslexia / alexia characterized by retained awareness throughout the seizure. HP:0032709 Focal aware cognitive seizure with dysgraphia/agraphia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032709 A focal cognitive seizure with dysgraphia / agraphia characterized by retained awareness throughout the seizure. HP:0007748 obsolete Irido-fundal coloboma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007748 HP:0006417 Broad femoral metaphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006417 UMLS:C1864854 Broad wide portion of thigh bone HP:0007747 Monocular horizontal nystagmus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007747 UMLS:C4024807 HP:0007744 obsolete Iridoretinal coloboma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007744 HP:0006413 Broad tibial metaphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006413 UMLS:C2678328 Broad wide portion of shankbone|Broad wide portion of shinbone HP:0006414 Distal tibial bowing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006414 UMLS:C4021598 Bowing of the distal tibia|Tibial bowing at ankle A bending or abnormal curvature of the distal portion of the tibia. HP:0006415 Cortically dense long tubular bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006415 UMLS:C1849276 Increased density of the compact bone of long bone. HP:0007740 Long eyelashes in irregular rows biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007740 UMLS:C1850640 Long eyelashes in irregular rows HP:0007759 Opacification of the corneal stroma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007759 UMLS:C1856661|SNOMEDCT_US:246957002|UMLS:C0423250 Cloudy corneas|Corneal stromal opacity|Cloudy cornea Reduced transparency of the stroma of cornea. HP:0007758 obsolete Congenital visual impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007758 HP:0006429 Broad femoral neck biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006429 UMLS:C1849016 Broadening of femoral neck|Widened femoral necks|Wide neck of thigh bone|Wide femoral neck An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). HP:0007755 Juvenile epithelial corneal dystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007755 MSH:D053559|UMLS:C0339277|SNOMEDCT_US:1674008 HP:0006423 Peg-like central prominence of distal tibial metaphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006423 UMLS:C1846160 HP:0007754 Macular dystrophy biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0007754 UMLS:C0730292 Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident. HP:0006424 Elongated radius biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006424 UMLS:C4025048 Increased length of the radius. HP:0007757 obsolete Hypoplasia of choroid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007757 HP:0006426 Rudimentary to absent tibiae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006426 UMLS:C1968943 HP:0007756 obsolete Slitlike anterior chamber angles in children biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007756 HP:0007750 Hypoplasia of the fovea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007750 UMLS:C2673946|UMLS:C4072863 Dull foveal reflex|Foveal hypoplasia Underdevelopment of the fovea centralis. HP:0006420 Asymmetric radial dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006420 UMLS:C1969396 The presence of asymmetric developmental dysplasia of the radius. HP:0007728 Congenital miosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007728 SNOMEDCT_US:400962005|MSH:C537550|UMLS:C1303009 Abnormal (non-physiological) constriction of the pupil of congenital onset. HP:0007727 Opacification of the corneal epithelium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007727 UMLS:C1849198 Superficial corneal opacities Lack of transparency of the corneal epithelium. HP:0007722 Retinal pigment epithelial atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007722 UMLS:C1840457 Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging. HP:0007721 Saccular conjunctival dilatations biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007721 UMLS:C3277464 Saccular conjunctival aneurysms Presence of multiple dilatations (sac-like outpouchings) in the blood vessels of the conjunctiva. HP:0007720 Flat cornea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007720 UMLS:C0344529|SNOMEDCT_US:204145006 Cornea plana Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age. HP:0006409 Progressive leg bowing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006409 UMLS:C1855191 Progressive bending or abnormal curvature of the leg. HP:0007737 Bone spicule pigmentation of the retina biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007737 UMLS:C1836926 Fundus with peripheral bony spicules|Retinal 'bone corpuscle' pigmentation|Retinal pigmented bone spicules|Bone corpuscle fundus pigmentation|Retinal bone corpuscle pigmentation Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone). HP:0006406 Club-shaped proximal femur biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006406 UMLS:C1968611 Club-shaped innermost end of thighbone An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis. HP:0007736 obsolete Pericentral retinal dystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007736 HP:0006407 Irregular distal femoral epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006407 UMLS:C4025050 Irregular outermost thighbone end part Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular. HP:0007739 obsolete Mildly reduced visual acuity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007739 HP:0007738 Uncontrolled eye movements biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007738 UMLS:C1854686 HP:0006408 Distal tapering femur biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006408 UMLS:C4025049 Tapering of outermost end of thighbone HP:0007733 Laterally curved eyebrow biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007733 UMLS:C1846266 HP:0007732 Lacrimal gland hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007732 UMLS:C1863200 Hypoplastic lacrimal gland|Underdeveloped tear gland Underdevelopment of the lacrimal gland. HP:0006402 Distal shortening of limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006402 UMLS:C1840307 Short outer part of limbs HP:0007734 Enlarged lacrimal glands biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007734 UMLS:C1867030 Enlarged tear gland Abnormally big lacrimal glands. HP:0007731 Chorioretinal dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007731 UMLS:C4024809 Abnormal development of the choroid and retina. HP:0007730 Iris hypopigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007730 UMLS:C0154920|SNOMEDCT_US:247032003|SNOMEDCT_US:70397008 Reduced iris pigmentation|Light eye color An abnormal reduction in the amount of pigmentation of the iris. HP:0006400 Absent knee epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006400 UMLS:C1859462 Absent knee end part HP:0030091 Absent muscle fiber merosin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030091 UMLS:C4021055 Absent merosin staining in muscle biopsy|Absent muscle fibre merosin|Absent muscle fiber laminin alpha 2 Lack of merosin protein in the muscle biopsy. HP:0030092 Reduced muscle fiber merosin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030092 UMLS:C4022651 Reduced muscle fibre merosin A reduced amount of merosin in muscle fibers. This feature is usually assessed by immunohistochemical examination of muscle biopsy tissue. HP:0030093 Abnormal muscle fiber laminin beta 1 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030093 UMLS:C4022650 Abnormal muscle fibre laminin beta 1 A deviation from normal of the amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1. HP:0030094 Reduced muscle fiber laminin beta 1 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030094 UMLS:C4022649 Reduced muscle fibre laminin beta 1 A reduced amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1. HP:0030090 Abnormal muscle fiber merosin expression biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030090 UMLS:C4022652 Abnormal muscle fibre 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. HP:0030099 Reduced muscle fiber alpha dystroglycan biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030099 UMLS:C4022646 Reduced muscle fibre 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. HP:0030095 Reduced muscle collagen VI biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030095 UMLS:C4021054 Reduced collagen 6 in muscle A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle. HP:0030096 Abnormal muscle fiber dystrophin expression biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030096 UMLS:C4022648 Abnormal muscle fibre dystrophin expression A deviation from normal in the amount of dystrophin in muscle fiber tissue. Dystrophin is located at the muscle sarcolemma in a membrane-spanning protein complex that connects the cytoskeleton to the basal lamina. HP:0030097 Absent muscle dystrophin expression biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030097 UMLS:C4022647 Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy. HP:0030098 Reduced muscle dystrophin expression biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030098 UMLS:C4021053 Reduced dystrophin staining in muscle A decreased amount of dystrophin in muscle fiber tissue. HP:0006180 Crowded carpal bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006180 UMLS:C1863317 Crowded wrist bones HP:0032470 Monilethrix biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032470 The hair shaft has a beaded appearance due to the presence of elliptical nodes that have the diameter of normal hair and are medullated, regularly separated by internodes that are narrow, devoid of medulla and are the site of fracture. HP:0031144 Coarsened hepatic echotexture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031144 The appearance of the liver in sonographic images is normally uniform. This term applies when there is an irregular or non-uniform appearance of the liver parenchyma in liver sonography. HP:0032476 Abnormal circulating vitamin B6 level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032476 An abnormal concentration of vitamin B6 in the blood circulation. HP:0032475 6-layered lissencephaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032475 HP:0031145 Starry sky appearance on hepatic sonography biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031145 An abnormal echotexture visible in liver ultrasound manifesting as a diffuse hyperechoic liver echotexture with multiple, small hypoechoic lesions. The appearance is said to resemble a starry sky (multiple white spots on a dark background). HP:0032478 Lateral spinal meningocele biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032478 Protrusion of the arachnoid and dura through spinal foramina. HP:0031146 Impaired oral bolus formation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031146 An abnormality of swallowing characterized by reduced tongue coordination to form bolus after chewing. Food material spreads over the oral cavity instead of being concentrated into a bolus that is easily swallowed. HP:0032477 Elevated circulating vitamin B6 level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032477 An abnormally increased concentration of vitamin B6 in the blood circulation. HP:0032472 Abnormal urine urobilinogen level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032472 An abnormal concentration of urobilinogen in the urine. HP:0031140 Abnormal liver sonography biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031140 An abnormal appearance of the liver or any of its components on sonography (ultrasound). HP:0032471 Focal polymicrogyria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032471 Polymicrogyria affecting one or multiple small areas of the cerebral cortex. HP:0031141 Increased hepatic echogenicity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031141 Hyperechogenic liver Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device. HP:0031142 Abnormal hepatic echogenicity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031142 Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen). HP:0032473 Decreased urine urobilinogen biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032473 An abnormally reduced concentration of urobilinogen in the urine. HP:0031143 Decreased hepatic echogenicity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031143 Hypoechogenic liver Reduced echogenicity of liver tissue on sonography, manifested as an increased amount of black on the screen of the sonography device. HP:0032479 Preimplantation lethality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032479 Preimplantation embryonic lethality It is estimated that about 40-70 percent of human embryos produced in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) are viable embryos, whereas others arrest at different early stages of development. The phenotype of preimplantation lethality is inferred if IVF and ICSI cycles fail because all of an individual's embryos are arrested at early stages of development. HP:0006179 Pseudoepiphyses of second metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006179 UMLS:C1862693 Extra bone on end of second long bone of hand|Pseudoepiphysis of the 2nd metacarpal HP:0006174 Metacarpal diaphyseal endosteal sclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006174 UMLS:C1840419 Increase in bone density in the diaphyseal (shaft) region of a metacarpal bone. HP:0006175 Proximal phalangeal periosteal thickening biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006175 UMLS:C4280463|UMLS:C1834348 Thickening of connective tissue of innermost finger bone HP:0006176 Two carpal ossification centers present at birth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006176 UMLS:C1839285 Two carpal ossification centres present at birth HP:0006191 Deep palmar crease biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0006191 UMLS:C1857539 Deep palm line|Deep palmar creases Excessively deep creases of the palm. HP:0006192 Tapered phalanx of finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006192 UMLS:C4025084 Tapered finger bone Phalanges of the fingers becoming thinner toward the distal end. HP:0006193 Thimble-shaped middle phalanges of hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006193 UMLS:C4025083 Thimble-shaped middle bones of hand The middle phalanx of finger resembles a thimble, a small metal cap to protect the finger while sewing that has a broad (proximal) base and narrower top, whereby both base and top are flat. HP:0032481 Abnormal pituitary glycoprotein hormone alpha subunit level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032481 Any deviation from the normal concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). HP:0031150 Vitreomacular adhesion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031150 VMA Perifoveal vitreous separation with remaining vitreomacular attachment and unperturbed foveal morphologic features. It is an OCT finding that is almost always the result of normal vitreous aging, which may lead to pathologic conditions. HP:0032480 Beta-aminoisobutyric aciduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032480 An increased amount of beta-aminoisobutyric acid in the urine. Beta-aminoisobutyric acid is a non-protein amino acid originating from the catabolism of thymine and valine. HP:0006190 Radially deviated wrists biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006190 UMLS:C1861316 HP:0032487 Reduced fecal osmolality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032487 Reduced faecal osmolality Abnormally low concentration of feces as assessed by the total number of solute particles per kilogram. HP:0031155 Increased Arden ratio of electrooculogram biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031155 Increased Arden ratio of EOG An abnormal increase in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record. HP:0032486 Elevated fecal osmolality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032486 Elevated faecal osmolality Abnormally high concentration of feces as assessed by the total number of solute particles per kilogram. HP:0031156 Decreased platelet glycoprotein Ib biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031156 Decreased platelet cell membrane concentration of glycoprotein Ib. HP:0032489 Elevated fecal pH biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032489 Elevated faecal pH Abnormally high fecal pH, i.e., abnormal alkalinity of feces. HP:0031157 Carotid cavernous fistula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031157 Caroticocavernous fistula An abnormal connection between a carotid artery and the cavernous sinus. HP:0031158 Widened atrophic scar biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031158 An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility. HP:0032488 Abnormal fecal pH biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032488 Abnormal faecal pH Any deviation from the normal pH of feces. The pH reflects the acidity or alkalinity of a solution on a logarithmic scale on which 7 is neutral, whereby lower values are more acid and higher values more alkaline. HP:0032483 Abnormal fecal test result biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032483 Abnormal faecal test result Abnormal level of metabolite or other abnormal analyte result in a stool test. HP:0031151 Vitreomacular traction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031151 VMT Vitreomacular traction is characterized by anomalous posterior vitreous detachment accompanied by anatomic distortion of the fovea, which may include pseudocysts, macular schisis, cystoid macular edema, and subretinal fluid. Vitreomacular traction can be subclassified by the diameter of vitreous attachment to the macular surface as measured by OCT, with attachment of 1500 micrometers or less defined as focal and attachment of more than 1500 micrometers as broad. HP:0031152 Full-thickness macular hole biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031152 FTMH Full-thickness macular hole (FTMH) is defined as a foveal lesion with interruption of all retinal layers from the internal limiting membrane to the retinal pigment epithelium. Full-thickness macular hole is primary if caused by vitreous traction or secondary if directly the result of pathologic characteristics other than vitreomacular traction. Full-thickness macular hole is subclassified by size of the hole as determined by OCT and the presence or absence of vitreomacular traction. HP:0032482 Decreased pituitary glycoprotein hormone alpha subunit level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032482 Decreased pituitary glycoprotein polypeptide alpha subunit level|Decreased pituitary glycoprotein alpha subunit level An reduced concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). HP:0031153 Membranous vitreous appearance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031153 Membranous vitreous phenotype|Membranous anomaly|Membranous vitreous Vitreous humor of the eye displaying consisting of a vestigial gel in the retrolental space bounded by a convoluted membrane. HP:0032485 Abnormal fecal osmolality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032485 Abnormal faecal osmolality Abnormal concentration of feces as assessed by the total number of solute particles per kilogram. HP:0031154 Beaded vitreous appearance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031154 Vitreous humor of the eye displaying beaded bundles of irregular diameters. HP:0032484 Elevated fecal sodium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032484 Elevated faecal sodium An elevated concentration of sodium in feces. HP:0031159 Thinning of Descemet membrane biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031159 A reduction in the thickness of Descemet's membrane. HP:0006189 Prominent interdigital folds biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006189 UMLS:C1866000 HP:0006184 Decreased palmar creases biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0006184 UMLS:C1857483 Shallow palm line|Hypoplastic palmar creases|Shallow palmar creases|Poorly formed palmar creases Poorly defined or shallow palmar creases. HP:0006185 Enlarged proximal interphalangeal joints biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006185 UMLS:C1861350 Enlarged innermost hinge joint HP:0006187 Fusion of midphalangeal joints biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006187 UMLS:C1861332 HP:0007490 Linear arrays of macular hyperkeratoses in flexural areas biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007490 UMLS:C1866031 HP:0032490 Decreased fecal pH biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032490 Decreased faecal pH Abnormally low fecal pH, i.e., abnormal acidity of feces. HP:0032492 Anti-myelin oligodendrocyte glycoprotein antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032492 Anti-MOG antibody positivity Presence of antibodies in the serum that react against myelin oligodendrocyte glycoprotein. HP:0006160 Irregular metacarpals biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006160 UMLS:C4025086 Irregular long bones of hand Irregular morphology of one or more metacarpal bones. HP:0031160 Myelokathexis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031160 Impaired egress of mature neutrophils from bone marrow causing neutropenia. HP:0032491 Increased circulating argininosuccinic acid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032491 An increased level of the non-proteinogenic amino acid argininosuccinic acid in the blood circulation. HP:0006161 Short metacarpals with rounded proximal ends biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006161 UMLS:C1856471 Short long bone of hand with rounded innermost ends HP:0031161 Reduced brain glutamate level by MRS biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031161 An decrease in the level of glutamate (Glu) in the brain identified by magnetic resonance spectroscopy (MRS). HP:0031166 Eyelid myokymia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031166 Myokymia orbicularis|Orbicularis myokymia Involuntary, fine, continuous, undulating contractions of the eyelid. HP:0031167 Triggered by ingestion of potassium-rich food biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031167 Triggered by ingestion of K-rich food|Potassium-rich food triggered symptoms Applies to a sign or symptom that is provoked or brought about by eating or drinking foods rich in potassium. HP:0032497 Reduced terminal:vellus ratio biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032497 A terminal:vellus ratio under 4:1 is characteristic of androgenetic alopecia. HP:0032499 Giant neutrophil granules biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032499 The presence of abnormally large granules in neutrophils. This finding can be appreciated on a peripheral blood smear. The finding is characteristic of Chediak Higashi syndrome. The giant granules are derived from azurophil granules, whereas peroxidase-negative granules are not involved in their formation. HP:0031169 Postterm pregnancy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031169 A pregnancy that extends to 42 weeks of gestation or beyond. HP:0031162 Impaired oropharyngeal swallow response biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031162 Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars. HP:0032493 Increased circulating trypsinogen biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032493 Increased immunoreactive trypsinogen An abnormally high concentration of trypsinogen in the blood circulation. HP:0031163 Low femoral bone density biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031163 Low femur bone density Reduced bone mineral density of the femur. HP:0031164 Growth arrest lines biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031164 Harris lines|Growth resumption lines Growth arrest lines are alternating transverse rings of sclerosis at the metaphysis of a long bone. HP:0032496 Elevated terminal:vellus ratio biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032496 An increased proportion of terminal hairs compared to vellus hairs. HP:0031165 Multifocal seizures biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031165 Multifocal onset seizures Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations). HP:0032495 Abnormal terminal:vellus ratio biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032495 A deviation from the normal proportion of terminal to vellus hairs. HP:0006159 Mesoaxial hand polydactyly biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0006159 UMLS:C4021606 Central hand polydactyly|Interdigital finger polydactyly The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly. HP:0006155 Long phalanx of finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006155 UMLS:C4025087 Long finger bone Increased length of multiple or a single phalanx of finger. HP:0006156 Ulnar deviation of thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006156 SNOMEDCT_US:299137000|UMLS:C0575904|UMLS:C4280465 Curved thumb deviated towards palm|Ulnar deviation of the 1st finger Bending or curvature of a thumb towards the ulnar side (towards the ring finger). HP:0007486 Cavernous hemangioma of the face biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007486 UMLS:C1332863|NCIT:C3086 HP:0007489 Diffuse telangiectasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007489 SNOMEDCT_US:125279001|UMLS:C1265776 Diffuse telangiectases|Telangiectases, random body distribution Telangiectases (small dilated blood vessels) with a diffuse localization. HP:0006157 Prominent palmar flexion creases biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006157 UMLS:C1865131|UMLS:C4280464 Prominent life line HP:0007488 Diffuse skin atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007488 UMLS:C4024863 HP:0006158 obsolete Finger joint hyperextensibility biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006158 HP:0007483 Depigmentation/hyperpigmentation of skin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007483 UMLS:C4024864 HP:0006152 Proximal symphalangism of hands biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006152 UMLS:C4021607 Fused innermost hinge joints|Proximal interphalangeal joint synostoses 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. HP:0007482 Generalized papillary lesions biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007482 UMLS:C4024865 Generalised papillary lesions HP:0007485 Absence of subcutaneous fat biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007485 UMLS:C4024855|UMLS:C0241267 Lack of fatty tissue below the skin|General absence of subcutaneous fat|Absent fat below the skin Lack of subcutaneous adipose tissue. HP:0006153 Disharmonious carpal bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006153 UMLS:C2675549 Disharmonious wrist bone HP:0031170 Female fetal virilization biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031170 Female foetal virilization Fetal masculinization of female external genitalia. HP:0006170 Chess-pawn distal phalanges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006170 UMLS:C1862097 Chess-pawn shaped outermost bone A morphological abnormality of distal phalanges such that they have the appearance of chess pawns. HP:0031171 Femoral spur biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031171 Spurring of femur A bony projection (spur, osteophyte) originating from the femur, often in the medial femoral neck. HP:0006172 Flattened, squared-off epiphyses of tubular bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006172 UMLS:C1834961 Flattened, squared-off end part of tubular bones HP:0031172 Sectoral retinitis pigmentosa biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031172 A variant of retinitis pigmentosa in which there is a regional distribution of the retinal degeneration. HP:0031177 Finger flexor weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031177 Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion. HP:0031178 Fixed head retroflexion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031178 Head is bent in the posterior direction in a permanent fashion. HP:0031179 Nuchal rigidity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031179 Meningism Resistance of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated. HP:0031173 Tibial spur biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031173 Spurring of tibiae A bony projection (spur, osteophyte) originating from the tibia. HP:0031174 Double-layered patella biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031174 An anomaly of the patella characterized by two layers visible on lateral knee X-ray such that one layer is in front of the other in the sagittal orientation (See Figure 2A and 3B of PMID:12966518). This finding persists into adulthood. HP:0031175 Absent cervical vertebra biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031175 A developmental defect characterized by agenesis of one or more vertebral bodies of the cervical spine. HP:0031176 Absent thoracic vertebra biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031176 A developmental defect characterized by agenesis of one or more vertebral bodies of the thoracic spine. HP:0006166 Tubular metacarpal bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006166 UMLS:C1859369 Cylindrical shaped long bones of hand HP:0006167 Prominent proximal interphalangeal joints biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006167 UMLS:C4025085 Prominent innermost hinge joints HP:0007497 Focal friction-related palmoplantar hyperkeratosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007497 UMLS:C1835654 Hyperkeratosis, palmoplantar, focal friction-related Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction. HP:0006169 Decreased mobility 3rd-5th fingers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006169 UMLS:C1833882 Decreased mobility 3rd-5th fingers HP:0007499 Recurrent staphylococcal infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007499 UMLS:C4024862 Recurrent staphylococcal infections Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections. HP:0006162 Soft tissue swelling of interphalangeal joints biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006162 UMLS:C1854913 Soft tissue swelling of hinge joints HP:0007494 Discrete 2 to 5-mm hyper- and hypopigmented macules biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007494 UMLS:C1851552 HP:0006163 Enlarged metacarpophalangeal joints biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006163 UMLS:C1859700 HP:0007495 Prematurely aged appearance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007495 UMLS:C1857656 Prematurely aged appearance|Precociously senile appearance HP:0006165 Proportionate shortening of all digits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006165 UMLS:C1862157 Proportionate shortening of all digits HP:0032432 Increased HDL3c concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032432 An elevation above the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm. HP:0031100 Decreased inhibin B level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031100 A reduced concentration of inhibin B in the blood. HP:0031101 Abnormal antimullerian hormone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031101 Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases. HP:0032431 Decreased HDL3b concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032431 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. HP:0031102 Increased antimullerian hormone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031102 Increased plasma AMH An elevation above the normal range of the antimullerian hormone in the circulation. HP:0032434 Delayed umbilical cord separation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032434 Separation of the umbilical cord occurs at an abnormally late timepoint. HP:0031103 Decreased antimullerian hormone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031103 Decreased plasma AMH A reduction below the normal range of the antimullerian hormone in the circulation. HP:0032433 Decreased HDL3c concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032433 A reduction below the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm. HP:0032430 Increased HDL3b concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032430 An elevation above the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm. HP:0031108 Triceps weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031108 A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements. HP:0032439 Airborn particle hypersensitivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032439 An abnormally increased sensitivity to airborn particles. This can be diagnosed on the basis of the medical history, taking into account seasonality or a relationship to the concentration of airborn particles in the environment of the affected individual. Aerosol challenge is a gold standard of establishment of the symptom. There exist particle hypersensitivity (diesel exhaust, metals, inorganic material) vs. allergen (including pollen dander, etc) hypersensitivity. The responses are usually different and testing for allergen hypersensitivity is done in concert with serum IgE and or skin testing to the suspected allergen. HP:0031109 Agalactia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031109 Lactation incapacity Failure of secretion of milk following childbirth associated with an inability to breastfeed an infant. HP:0032436 Abnormal C-reactive protein level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032436 Any deviation from the normal concentration of C-reactive protein in the blood circulation. HP:0031104 Insulin receptor antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031104 The presence of autoantibodies (immunoglobulins) in the serum that react against the insulin receptor. HP:0031105 Abnormal uterus morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031105 Any anomaly of the structure of the uterus HP:0032435 Neonatal omphalitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032435 Omphalitis An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period. HP:0031106 T-shaped uterus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031106 An abnormality of the uterus characterized by a normal uterine outline but with an abnormal T-shaped uterine cavity with narrowing cavity due to thickened lateral walls with a correlation 2/3 uterine corpus and 1/3 cervix. The abnormlaity is said to resemble the letter T in hysterosalpingographic imaging. HP:0032438 Platelet anisocytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032438 Abnormally increased variability in the size of platelets. HP:0032437 Reduced C-reactive protein level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032437 An abnormal decrease of the C-reactive protein level in serum. HP:0031107 Decreased fibular diameter biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031107 Thin fibula Reduced width of the cross sectional diameter of the fibula. HP:0031111 Cutaneous hamartoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031111 Skin hamartoma A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the skin. HP:0032443 Past medical history biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032443 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. HP:0032442 Blood group O biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032442 ABO phenotype O, corresponding to the genotype OO. HP:0032445 Pulmonary cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032445 Lung cyst A round circumscribed space within a lung that is surrounded by an epithelial or fibrous wall of variable thickness. A cyst usually has a thin and regular wall (less than 2 mm) and contains air, although some may contain fluid. HP:0032444 Status post organ transplantation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032444 s/p organ transplantation The affected individual has received an organ transplant previous to the current medical encounter. HP:0032441 Blood group AB biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032441 ABO phenotype AB, corresponding to the genotype AB. HP:0031110 Twin-to-twin transfusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031110 Twin to twin transfusion syndrome As a result of sharing a single placenta, the blood supplies of monochorionic twin fetuses can become connected, so that they share blood circulation: although each fetus uses its own portion of the placenta, the connecting blood vessels within the placenta allow blood to pass from one twin to the other.Depending on the number, type and direction of the interconnecting blood vessels (anastomoses), blood can be transferred disproportionately from one twin (the donor) to the other (the recipient). This state of transfusion causes the donor twin to have decreased blood volume, retarding the donor's development and growth. The blood volume of the recipient twin is increased, which can strain the fetus's heart and eventually lead to heart failure. HP:0032440 Blood group B biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032440 ABO phenotype B, corresponding to the genotype BO or BB. HP:0031119 Bicuspid aortic valve with right-left cusp fusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031119 A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and left cusps (RL fusion pattern). This results in two leaflefts with an anterior-posterior leaflet orientation (also called the typical pattern). There is thus one completely developed noncoronary cusp, two completely developed commissures, and one raphe between the underdeveloped left and right coronary cusps extending to the corresponding malformed commissure. HP:0032447 Pulmonary bleb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032447 A bleb is a small gas-containing space within the visceral pleura or in the subpleural lung, not larger than 1 cm in diameter. CT findings show a bleb as a thin-walled cystic air space contiguous with the pleura. HP:0032446 Pulmonary bulla biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032446 Pulmonary bullae Pulmonary bullae are rounded focal regions of emphysema with a thin wall which measure more than 1 cm in diameter. They are often subpleural in location and are typically larger in the apices. In some cases, bullae can be very large and result in compression of adjacent lung tissue. A giant bulla is arbitrarily defined as one that occupies at least one third of the volume of a hemithorax. When large, bullae can simulate pneumothorax. The most common cause is paraseptal emphysema but bullae may also be seen in association with centrilobular emphysema. HP:0032449 Abnormal dermoepidermal hemidesmosome morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032449 An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane. HP:0031117 Purely bicuspid aortic valve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031117 A type of bicuspid aortic valve (BAV) characterized by two equal-sized cusps, with no raphe and only two commissures. There is a lateral arrangement of the free edge of the cusps. Note that this differs from some other forms of BAV in which there are three commissures and two of the three cusps are joined by a raphe forming two functional leaflets. This type of BAV often is associated with aortic stenosis. HP:0032448 Achlorhydria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032448 A condition in which production of hydrochloric acid in the stomach is absent. HP:0031118 Single raphe bicuspid aortic valve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031118 A type of bicuspid aortic valvue (BAV) characterized by the presence of a single raphe that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps, resulting in two leaflets of unequal size. HP:0032454 Labial melanotic macule biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032454 Labial melanotic freckle Flat, distinct, discolored area on the lip less than 1 cm wide not associated with a change in the thickness or texture. HP:0031122 Two-raphe bicuspid aortic valve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031122 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. HP:0032453 Abnormal lip pigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032453 Abnormal coloring of the lip, whereby the lip discolored, blotchy, or darker or lighter than normal. HP:0031123 Recurrent gastroenteritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031123 Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis. HP:0032456 Unlayered lissencephaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032456 A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and grey matter. HP:0031124 Decreased platelet thromboxane A2 receptor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031124 Decreased cell membrane concentration of thromboxane A2 receptor that is stimulated by thromboxane A2 (TBXA2). HP:0031125 Decreased platelet alpha-2A-adrenergic receptor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031125 Decreased cell membrane concentration of alpha-2A adrenergic receptor that is stimulated by epinephrine. HP:0032455 Reduced granulocyte CD18 level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032455 Reduced level of CD18 on the granulocyte surface. This feature can be assessed by flow cytometry. HP:0032450 Positive blood arsenic test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032450 Detection of arsenic in the blood circulation. HP:0032452 Oral melanoacanthoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032452 Oral melanoacanthoma usually presents as an asymptomatic, ill-defined, rapidly enlarging, macular pigmentation. Although most lesions are heavily pigmented, the coloration may or may not be uniform. Any mucosal site may be affected, but buccal mucosal involvement is most common. Although typically solitary, rare patients may present with multifocal lesions. HP:0031120 Bicuspid aortic valve with right-noncoronary cusp fusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031120 A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and noncoronary cusps (RN fusion pattern). This results in two leaflets with right-left leaflet orientation (also called the atypical pattern). There is thus one completely developed left cusp, two completely developed commissures, and one raphe between the underdeveloped right and noncoronary coronary cusps extending to the corresponding malformed commissure. HP:0032451 Oral melanotic macule biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032451 Melanotic macule of oral mucosa Flat, distinct, discolored area of oral mucosal membrane less than 1 cm wide not associated with a change in the thickness or texture of the affected mucosal membrane. The lesions are small, solitary, well-circumscribed and often uniformly pigmented. HP:0031121 Bicuspid aortic valve with left-noncoronary cusp fusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031121 A type of bicuspid aortic valve (BAV) characterized by a single raphe between the left and noncoronary cusps (LN fusion pattern). There is thus one completely developed right cusp, two completely developed commissures, and one raphe between the underdeveloped left and noncoronary coronary cusps extending to the corresponding malformed commissure. HP:0031126 Impaired clot retraction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031126 Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration. HP:0032458 Narrowing of medullary canal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032458 Narrowing of the marrow cavity|Narrowing of bone marrow canal|Narrowing of bone medullary canal|Medullary cavity obliteration A reduction in diameter and volume of the central cavity of bone where red or yellow bone marrow is located. HP:0032457 2-3-layered lissencephaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032457 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. HP:0031127 Impaired convulxin-induced platelet aggregation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031127 Abnormal response to convulxin as manifested by reduced or lacking aggregation of platelets upon addition of convulxin. HP:0031128 Impaired collagen-related peptide-induced platelet aggregation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031128 Abnormal response to collagen-related peptide (CRP) as manifested by reduced or lacking aggregation of platelets upon addition of CRP. HP:0032459 Abnormal phosphoribosylpyrophosphate synthetase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032459 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. HP:0031129 Impaired phorbol myristate acetate-induced platelet aggregation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031129 Abnormal response to phorbol myristate acetate (PMA) as manifested by reduced or lacking aggregation of platelets upon addition of PMA. HP:0031133 Increased annexin V binding to platelet phosphatidylserine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031133 Elevated binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry. HP:0032465 Bladder trabeculation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032465 Trabecular bladder Muscular projections that protrude into the lumen of the bladder, criss-crossing the walls of the bladder on its inner surface. HP:0031134 Cor triatrium sinister biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031134 A developmental anomaly of the heart characterized by the presence of three atria because the left atrium is divided by an abnormal septum. HP:0032464 Ureteral hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032464 Hypoplasia of the ureter|Ureter hypoplasia Underdevelopment of the ureter. HP:0032467 Past obstetric history biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032467 Maternal medical history Information about past pregnancies including gravidity (number of times a woman has been pregnant, regardless of the outcome), parity (total number of births), gestational age of births, and medical conditions related to past pregnancies. HP:0031135 Triggered by physical trauma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031135 Physical trauma triggered symptoms Applies to a sign or symptom that is provoked or brought about by exposure to a trauma (injury to tissue). HP:0032466 Aplasia of the olfactory bulb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032466 Aplastic olfactory bulb|Olfactory bulb aplasia Lack of formation (congenital absence) of the olfactory bulb. HP:0031136 Decreased acrosin in sperm head biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031136 A reduced amount of the enzyme acrosin in the sperm head acrosome. The acrosome is an organelle in the anterior half of the head of spermatozoa, and acrosin is a protease that contributes to the digestation of the zona pellucida in the fertilization process. HP:0032461 obsolete Tiger-tail banding biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032461 HP:0032460 Decreased phosphoribosylpyrophosphate synthetase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032460 Abnormally reduced level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate. HP:0031130 Impaired calcium ionophore-induced platelet aggregation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031130 Impaired Ca ionophore-induced platelet aggregation|Impaired Ca2+ ionophore-induced platelet aggregation Abnormal response to calcium Ionophore (such as A23187) as manifested by reduced or lacking aggregation of platelets upon addition of the ionophore. HP:0031131 Abnormal platelet phosphatidylserine exposure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031131 An abnormality of phosphatidylserine (PS) on activated platelets. PS is normally located on the cytoplasmic face of the resting platelet membrane but appears on the plasma-oriented surface of discrete membrane vesicles that derive from activated platelets. Thrombin, the central molecule of coagulation, is produced from prothrombin by a complex (prothrombinase) between factor Xa and its protein cofactor (factor V(a)) that forms on platelet-derived membranes. This complex enhances the rate of activation of prothrombin to thrombin by roughly 150,000 fold relative to factor X(a) in solution. The negatively charged surface of PS-containing platelet-derived membranes is at least partly responsible for this rate enhancement. HP:0032463 Reduced circulating fibronectin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032463 Decreased plasma fibronectin A reduction below the normal concentration of fibronectin the the blood circulation. HP:0031132 Impaired annexin V binding to platelet phosphatidylserine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031132 Reduced binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry. HP:0032462 Increased circulating palmitate level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032462 An elevation beyond the normal concentration of palmitate (palmitic acid) in the blood circulation. HP:0031137 Storage in hepatocytes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031137 Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material. HP:0032469 Anti-asialoglycoprotein receptor antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032469 Presence of autoantibodies against the asialoglycoprotein receptor (ASGPR) in the blood circulation. HP:0032468 History of stillbirth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032468 One or more previous pregnancies resulted in stillbirth, defined as death of a fetus in the later stages of pregnancy (definitions in the literature vary, with cut-offs ranging from 20 to 28 weeks gestation). HP:0031138 Abnormal B-type natriuretic peptide level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031138 A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP). HP:0031139 Frog-leg posture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031139 A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog. HP:0007429 Few cafe-au-lait spots biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007429 UMLS:C4024881 The presence of two to five cafe-au-lait macules. HP:0007428 Telangiectasia of the oral mucosa biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007428 UMLS:C4024882 Angioectasia of the oral mucous membrane|Spider veins of the oral mucosa|Telangiectasia of the oral mucous membrane|Angioectasia of the oral mucosa Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa. HP:0008756 Bowing of the vocal cords biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008756 UMLS:C0396064|SNOMEDCT_US:232448002 Bowing (abnormal curvature) of the vocal folds. HP:0007425 Hyperextensible skin of face biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007425 UMLS:C4024883 Hyperelastic face skin|Stretchable face skin HP:0008755 Laryngotracheomalacia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008755 SNOMEDCT_US:308232009|UMLS:C0585984 HP:0007427 Reticulated skin pigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007427 UMLS:C3279601|UMLS:C3279575 Reticular pigmentation pattern|Reticulate skin pigmentation HP:0008757 Unilateral vocal cord paralysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008757 MSH:D014826|UMLS:C0751575 Unilateral paralysis of the vocal cord A loss of the ability to move the vocal fold on one side. HP:0008752 Laryngeal cartilage malformation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008752 UMLS:C4021530 Vocal impairment, severe, due to laryngeal cartilage abnormalities A malformation of the laryngeal cartilage. HP:0007421 Telangiectases of the cheeks biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007421 UMLS:C3554587 Telangiectasia on the cheeks Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks. HP:0008751 Laryngeal cleft biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008751 UMLS:C1840311|MSH:C537875|SNOMEDCT_US:232461002 Laryngotracheal cleft|Laryngotracheoesophageal cleft i Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esopahagus. HP:0007420 Spontaneous hematomas biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007420 UMLS:C1697453 Spontaneous development of hematomas (hematoma) or bruises without significant trauma. HP:0008754 Laryngeal calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008754 UMLS:C1859158 Laryngeal calcifications Calcification (abnormal deposits of calcium) in the laryngeal tissues. HP:0008753 Aplasia of the epiglottis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008753 UMLS:C4024628 Absent epiglottis Absence of the epiglottis. HP:0008750 Laryngeal atresia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008750 UMLS:C0265756|SNOMEDCT_US:64981002 Congenital absence of the lumen of the larynx. HP:0032401 Aspartic aciduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032401 A increased concentration of aspartic acid in the urine. HP:0032400 Dysgyria with thickened cortex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032400 An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation and a thickened cortex intermediate between pachygyria and polymicrogyria. HP:0032407 Bilateral perisylvian polymicrogyria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032407 A type of perisylvian polymicrogyria that affects both sides of the brain. HP:0006108 Tapered metacarpals biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006108 UMLS:C4025091 Tapered long bones of hand Metacarpal that becomes thinner toward the distal end. HP:0032406 Unilateral perisylvian polymicrogyria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032406 A type of perisylvian polymicrogyria that largely affects one side of the brain. HP:0006109 Absent phalangeal crease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006109 UMLS:C1862479|UMLS:C4020821 Absent interphalangeal creases|Aplasia of the interphalangeal creases Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers). HP:0007439 Generalized keratosis follicularis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007439 UMLS:C4024879 Generalised keratosis follicularis HP:0032409 Subcortical band heterotopia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032409 A form of subcortical heterotopia with mislocalized gray matter within the white matter.It is defined as longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter. It is part of the lissencephaly spectrum. HP:0032408 Breast mass biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032408 Breast lump A breast lump is any discrete mass in a breast noticed by the patient, significant other, or physician. HP:0032403 Asparaginuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032403 Increased urine asparagine level|Increased level of asparagine in urine An increased concentration of asparagine in the urine. HP:0008767 Self-mutilation of tongue and lips due to involuntary movements biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008767 UMLS:C1860219 Self-mutilation of tongue and lips due to involuntary movements HP:0007436 Hair-nail ectodermal dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007436 UMLS:C4024880 HP:0007435 Diffuse palmoplantar keratoderma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007435 UMLS:C0022584|MSH:D015776|SNOMEDCT_US:400123002 HP:0007438 Mottled pigmentation of the trunk and proximal extremities biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007438 UMLS:C1851551 HP:0032405 Increased urinary phosphoserine level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032405 Increased level of phosphoserine in urine An increased level of phosphoserine in the urine. HP:0006106 Absent trapezoid bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006106 UMLS:C1847191 HP:0008768 Inappropriate sexual behavior biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008768 UMLS:C0474420|SNOMEDCT_US:248099006 Inappropriate sexual behavior|Inappropriate sexual behaviour HP:0007437 Multiple cutaneous leiomyomas biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007437 NCIT:C3157|UMLS:C1708350|MSH:C535516 The presence of multiple leiomyomas of the skin. HP:0006107 Fingerpad telangiectases biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006107 UMLS:C1861248 Finger pad telangiectases|Small dilated blood vessels in fingerpads Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers. HP:0032404 Testicular mass biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032404 An abnormal bulge or lump in a testis. A testicular mass has a long differential diagnosis including testicular torsion, epididymitis, acute orchitis, strangulated hernia and testicular cancer. HP:0007432 Intermittent generalized erythematous papular rash biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007432 UMLS:C2749995 Intermittent generalised erythematous papular rash HP:0008763 No social interaction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008763 UMLS:C1849683 No social interaction HP:0007431 Congenital ichthyosiform erythroderma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007431 SNOMEDCT_US:268282005|SNOMEDCT_US:254156001|UMLS:C0079583|MSH:D016113 Ichthyosis, congenital|Congenital ichthyosis An ichthyosiform abnormality of the skin with congenital onset. HP:0006101 Finger syndactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006101 SNOMEDCT_US:249769001|UMLS:C0221352|SNOMEDCT_US:34048007|SNOMEDCT_US:268251006 Partial 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". HP:0008762 Repetitive compulsive behavior biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008762 UMLS:C1969697 Repetitive compulsive behaviour|Repetitive compulsive behavior HP:0008765 Auditory hallucinations biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008765 SNOMEDCT_US:45150006|MSH:D006212|UMLS:C0233762 Hearing sounds|Hallucinations of sound HP:0007434 Plaque-like facial hemangioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007434 UMLS:C1847884 Hemangioma, facial, plaque-like Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology. HP:0007430 Generalized edema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007430 SNOMEDCT_US:271808008|UMLS:C1850534 Generalized tissue edema|Generalised oedema Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. HP:0008760 Violent behavior biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008760 SNOMEDCT_US:248004009|UMLS:C0424323 Violent behavior|Violent behaviour HP:0032410 Bilateral generalized polymicrogyria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032410 Bilateral generalised polymicrogyria|Diffuse polymicrogyria Symmetric generalized polymicrogyria with no obvious gradient or region of maximal severity; may have abnormal high signal in white matter. HP:0032412 Anterior predominant subcortical band heterotopia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032412 Frontal subcortical band heterotopia|Subcortical band heterotopia anterior predominant Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible in the frontal and temporal lobes. HP:0032411 Posterior predominant subcortical band heterotopia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032411 Occipital subcortical band heterotopia|Subcortical band heterotopia posterior predominant Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the occipital cortex. HP:0007407 Excessive skin wrinkling on dorsum of hands and fingers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007407 UMLS:C1837467 Excessive skin wrinkling on back of hands and fingers HP:0008738 Partially duplicated kidney biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008738 UMLS:C4024630 Partially duplicated kidney The presence of a partially duplicated kidney. HP:0032418 Abnormal HDL subfraction concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032418 An abnormal concentration of an HDL subfraction, which can be determined by methods such as electrophoresis followed by densitometric determination of the areas under the peaks. Large HDL subfractions are defined as HDL1 (greater than 12 nm), HDL2b (9.7-12 nm), and HDL2a (8.8-9.69 nm). Small HDL subfractions are defined as HDL3a (8.2-8.79 nm), HDL3b (7.8-8.19 nm), and HDL3c (7.20-7.79 nm). HP:0007406 Hyperpigmentation of eyelids biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007406 UMLS:C0854438|MSH:C562400|SNOMEDCT_US:41115008|UMLS:C4280440|UMLS:C0155211 Brown eyelids|Pigmentation of eyelids|Dark eyelids HP:0032417 Periglomerular fibrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032417 PMID:32866505 Periglomerular fibrotic thickening Circumferential fibrosis in the interstitium surrounding Bowman's capsule HP:0007409 obsolete Absence of subcutaneous fat over entire body except buttocks, hips, and thighs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007409 HP:0007408 Tegumentary leishmaniasis susceptibility biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007408 UMLS:C2748501 Increased susceptibility to infection by the protozan parasite of the genus Leishmania. HP:0008739 Labial pseudohypertrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008739 UMLS:C1835380 HP:0032419 Abnormal HDL2a concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032419 Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm. HP:0008734 Decreased testicular size biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008734 SNOMEDCT_US:276411001|UMLS:C0241355 Testicular hypoplasia|Decreased testicular size|Hypoplastic testes|Small testis|Small testes Reduced volume of the testicle (the male gonad). HP:0032414 Hydroxylysinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032414 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. HP:0007403 Hypertrophy of skin of soles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007403 UMLS:C1867617 Thick skin of soles HP:0032413 Diffuse subcortical band heterotopia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032413 Subcortical band heterotopia diffuse Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the whole brain. HP:0008733 Dysplastic testes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008733 UMLS:C1837380 HP:0007402 Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007402 UMLS:C4024886 HP:0032416 Retinal microaneurysm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032416 A localized dilation of microvasculature formed due to disruption of the internal elastic lamina of a retinal capillary blood vessel. The lesions present as small circular, red dots having distinct margins and are no larger than a blood vessel width at the disk margin. This expansion disturbs the normal flow pattern, changing shear force and pressure along the vessel. Shear force plays a key role in promoting the differentiation and proliferation of endothelial cells. HP:0008736 Hypoplasia of penis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008736 UMLS:C0266435|SNOMEDCT_US:34911001 Underdeveloped penis HP:0007404 Nonepidermolytic palmoplantar keratoderma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007404 UMLS:C1833030|MSH:C563422 HP:0032415 Parasagittal parieto-occipital polymicrogyria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032415 Polymicrogyria in parasagittal and mesial aspects of parieto-occipital cortex. HP:0008730 Female external genitalia in individual with 46,XY karyotype biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008730 UMLS:C1848178 Males with female external genitalia The presence of female external genitalia in a person with a male karyotype. HP:0007401 Macular atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007401 UMLS:C1288283|SNOMEDCT_US:238828009|MSH:D057088 Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. HP:0008732 Renal hypophosphatemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008732 UMLS:C4024631 Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion. HP:0007400 Irregular hyperpigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007400 UMLS:C1860236 HP:0032421 Decreased HDL2a concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032421 A reduction below the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm. HP:0032420 Increased HDL2a concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032420 An elevation above the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm. HP:0032423 Decreased HDL2b concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032423 A reduction below the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm. HP:0032422 Abnormal HDL2b concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032422 Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2B particle is defined as an HDL particle with a size of 9.7-12 nm. HP:0007418 Alopecia totalis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007418 UMLS:C0263504|SNOMEDCT_US:19754005 Total alopecia Loss of all scalp hair. HP:0008749 Laryngeal hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008749 UMLS:C0431527|SNOMEDCT_US:253736003 Hypoplastic larynx Underdevelopment of the larynx. HP:0032429 Decreased HDL3a concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032429 A reduction below the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm. HP:0007417 Discoid lupus rash biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007417 UMLS:C0024138|SNOMEDCT_US:200938002|MSH:D008179|SNOMEDCT_US:238927000 Discoid lupus erythematosus Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy. HP:0032428 Increased HDL3a concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032428 An elevation above the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm. HP:0032425 Abnormal HDL3a concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032425 Any deviation from the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm. HP:0007414 Neonatal wrinkled skin of hands and feet biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007414 UMLS:C4024884 Wrinkled skin of hands and feet in newborn HP:0007413 Nevus flammeus of the forehead biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007413 UMLS:C1848850 Port-wine stain on forehead Naevus flammeus localised in the skin of the forehead. HP:0008744 Abnormal aryepiglottic fold morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008744 UMLS:C1849357 Abnormal aryepiglottic folds|Abnormality of the aryepiglottic fold An abnormality of the aryepiglottic fold. HP:0032424 Increased HDL2b concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032424 An elevation above the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm. HP:0032427 Abnormal HDL3c concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032427 Any deviation from the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm. HP:0008747 Cartilaginous ossification of larynx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008747 UMLS:C1855622 Ossification affecting the set of cartilages of larynx. HP:0032426 Abnormal HDL3b concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032426 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. HP:0007410 Palmoplantar hyperhidrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007410 SNOMEDCT_US:403375001|UMLS:C1274743|MSH:C563185 Excessive sweating of palms and soles|Hyperhidrosis of palms and soles An abnormally increased perspiration on palms and soles. HP:0008740 Longitudinal vaginal septum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008740 UMLS:C1841680 Vertical vaginal septum The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication. HP:0007412 Macular hyperpigmented dermopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007412 UMLS:C4024885 HP:0008743 Coronal hypospadias biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008743 SNOMEDCT_US:429641000124109|UMLS:C1394030|UMLS:C4020787 Subcoronal hypospadias A mild form of hypospadias in which the urethra opens just under the corona glandis. HP:0007411 Hypoplastic-absent sebaceous glands biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007411 UMLS:C1844617 HP:0008742 Prominent prostate median bar biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008742 UMLS:C4024629 HP:0007470 Periarticular subcutaneous nodules biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007470 UMLS:C3806306 Subcutaneous nodules that are located in the vicinity of joints. HP:0007469 Palmoplantar cutis gyrata biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007469 UMLS:C1851797 Cutis gyrata of palms and soles Cutis gyrata of palms and soles. HP:0007468 Perifollicular hyperkeratosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0007468 UMLS:C4024867 Increased amount of keratin (visible as white scales) surrounding hair follicles. HP:0007465 Honeycomb palmoplantar keratoderma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007465 UMLS:C1866032 HP:0008796 Externally rotated hips biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008796 UMLS:C1846339 Externally rotated hips HP:0007464 Sparse facial hair biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007464 UMLS:C2017869 Sparse facial hair Reduced number or density of facial hair. HP:0006134 Enlarged metacarpal epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006134 UMLS:C1865035 Enlarged end part of long bone of hand Abnormally large size of the metaphyseal epiphyses. HP:0006135 Decreased finger mobility biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006135 UMLS:C1862133 Decreased finger movement|Decreased finger mobility HP:0008798 Widened greater sciatic notch biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008798 UMLS:C4024620 Widening of the sacrosciatic notch|Widened sacrosciatic notch The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a increase in the lateral dimension of the notch. HP:0007466 Midfrontal capillary hemangioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007466 UMLS:C1859339 HP:0006136 Bilateral postaxial polydactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006136 UMLS:C1855003 HP:0008797 Early ossification of capital femoral epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008797 UMLS:C4024621 Developmental acceleration of ossification of the proximal epiphysis of the femur. HP:0007461 Hemangiomatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007461 SNOMEDCT_US:47669001|SNOMEDCT_US:254785001|UMLS:C1384590 HP:0007460 Autoamputation of digits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007460 UMLS:C1852289 HP:0008794 Dysplastic iliac wings biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008794 UMLS:C1837487 HP:0007462 Bitot spots of the conjunctiva biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007462 UMLS:C0423178|UMLS:C4024868|SNOMEDCT_US:246871006 Bitot's spots Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot. HP:0007481 Hyperpigmented nevi biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007481 UMLS:C0746889 HP:0007480 Decreased sweating due to autonomic dysfunction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007480 UMLS:C1868527 HP:0006150 Swan neck-like deformities of the fingers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006150 UMLS:C1849152 A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke. HP:0007479 Congenital nonbullous ichthyosiform erythroderma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007479 UMLS:C0079154|MSH:D017490|SNOMEDCT_US:205550003|SNOMEDCT_US:268245001|SNOMEDCT_US:267372009 Ichthyosis lammellaris|Nonbullous congenital ichthyosiform erythroderma|Collodion baby|Congenital non-bullous ichthyosis|Congenital lamellar ichthyosis|Nonbullous congenital ichthyosis|Ichthyosis, congenital, nonblistering The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales. HP:0006149 Increased laxity of fingers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006149 UMLS:C1850855 HP:0007476 Anhidrotic ectodermal dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007476 SNOMEDCT_US:7731005|UMLS:C1706004|MSH:D004476 HP:0006144 Shortening of all proximal phalanges of the fingers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006144 UMLS:C4025089 Shortening of all innermost bones of the fingers Congenital hypoplasia of proximal phalanx of finger or all fingers. HP:0006145 Central Y-shaped metacarpal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006145 UMLS:C1848597 Y-shaped central long bones of hand A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal. HP:0007475 Congenital bullous ichthyosiform erythroderma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007475 UMLS:C0079153|SNOMEDCT_US:239071005|SNOMEDCT_US:254167000|MSH:D017488 Epidermolytic hyperkeratosis|Bullous congenital ichthyosiform erythroderma An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet. HP:0006146 Broad metacarpal epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006146 UMLS:C4025088 Broad end part of long bone of hand Increased side-to-side width of the metacarpal epiphyses. HP:0007477 Abnormal dermatoglyphics biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0007477 UMLS:C0432333|SNOMEDCT_US:83145004 Dermatoglyphic abnormalities|Abnormal fingerprints An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles. HP:0006147 Progressive fusion 2nd-5th pip joints biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006147 UMLS:C1861310 HP:0006140 Premature fusion of phalangeal epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006140 UMLS:C1855620 Premature fusion of end part of digital bone Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth. HP:0007471 Axillary and groin hyperpigmentation and hypopigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007471 UMLS:C4024866 HP:0007473 Crusting erythematous dermatitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007473 UMLS:C1868496 HP:0006143 Abnormal finger flexion creases biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006143 UMLS:C1859481 HP:0006119 Proximal tapering of metacarpals biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0006119 UMLS:C1854749 Pointed innermost long bone of hand|Pointed proximal metacarpals Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance. HP:0007447 Diffuse palmoplantar hyperkeratosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007447 UMLS:C4021575 Hyperkeratosis, diffuse palmoplantar HP:0007446 Palmoplantar blistering biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007446 UMLS:C4024876 A type of blistering that affects the skin of the palms of the hands and the soles of the feet. HP:0008777 Abnormal vocal cord morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008777 UMLS:C0262665 Abnormality of the vocal cords An abnormality of the vocal cord. HP:0007449 Confetti-like hypopigmented macules biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007449 UMLS:C1851705 HP:0006118 Shortening of all distal phalanges of the fingers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006118 UMLS:C4021608 Brachytelephalangy|Shortening of all outermost bones of the fingers Hypoplasia of all of the distal phalanx of finger. HP:0007448 Hyperkeratosis over edematous areas biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007448 UMLS:C1835253 HP:0008774 Aplasia/Hypoplasia of the inner ear biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008774 UMLS:C4024625 Absent/small inner ear|Absent/underdeveloped inner ear Aplasia or developmental hypoplasia of the inner ear. HP:0007443 Partial albinism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007443 SNOMEDCT_US:6479008|UMLS:C0080024|MSH:D016116|SNOMEDCT_US:718122005 Partial absent skin pigmentation|Congenital partial albinism on face, trunk, or limbs|Congenital partial leucoderma 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. HP:0008773 Aplasia/Hypoplasia of the middle ear biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008773 UMLS:C4021529 Absent/underdeveloped middle ear|Middle ear hypoplasia/aplasia|Hypoplastic/aplastic middle ear structures|Absent/small middle ear Aplasia or developmental hypoplasia of all or part of the middle ear. HP:0006112 Expanded phalanges with widened medullary cavities biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006112 UMLS:C1969287 HP:0008776 Abnormal renal artery morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008776 UMLS:C4024624 Abnormal kidney artery|Abnormality of the renal artery Any structural abnormality of the renal artery. HP:0006114 Multiple palmar creases biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006114 UMLS:C1861872 Multiple palm lines The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease). HP:0008775 Abnormal prostate morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008775 UMLS:C0747987 Abnormality of the prostate An abnormality of the prostate. HP:0008770 Obsessive-compulsive trait biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008770 UMLS:C1834433 Obsessive-compulsive traits|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. HP:0008772 Aplasia/Hypoplasia of the external ear biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008772 UMLS:C4024626 Absent/small external ear|Absent/underdeveloped external ear The presence of aplasia or developmental hypoplasia of all or part of the external ear. HP:0007441 Hyperpigmented/hypopigmented macules biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007441 UMLS:C4024877 HP:0008771 Aplasia/Hypoplasia of the ear biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008771 UMLS:C4024627 Absent/underdeveloped ear|Absent/small ear The presence of aplasia or developmental hypoplasia of the ear. HP:0007440 Generalized hyperpigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007440 UMLS:C4024878 Generalised hyperpigmentation HP:0006110 Shortening of all middle phalanges of the fingers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006110 UMLS:C1856912 Short, hypoplastic middle phalanx of finger, affecting all fingers. HP:0008789 Cone-shaped capital femoral epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008789 UMLS:C1846157 Cone-shaped end part of innermost thighbone A cone-shaped deformity of the proximal epiphysis of the femur. HP:0007458 Focal hyperextensible skin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007458 UMLS:C4024870 HP:0007457 Prominent veins on trunk biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007457 UMLS:C4024871 Prominent thoracic and abdominal veins. HP:0008788 Delayed pubic bone ossification biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0008788 UMLS:C1861528|UMLS:C1866710|UMLS:C4280411 Delayed maturation fo pubic bone|Absent pubic ossification in infancy|Delayed mineralization of pubic bone Delayed maturation and calcification of the pubic bone. HP:0006127 Long proximal phalanx of finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006127 UMLS:C4025090 Long innermost finger bone Increased length of the proximal phalanx of finger. HP:0006129 Drumstick terminal phalanges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006129 UMLS:C1844822 Drumstick shaped digital bones Rounding and broadening of the tufts of the distal phalanges. HP:0007459 Generalized anhidrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007459 UMLS:C4024869 Generalized anhydrosis|Generalized inability to sweat|Generalised anhidrosis HP:0008785 Delayed ossification of pubic rami biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008785 UMLS:C1865363 Delayed maturation and calcification of the rami (branches) of the pubic bone. HP:0007453 Flexural lichenification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007453 UMLS:C4024873 Lichenification affecting primarily flexural areas of the skin. HP:0008784 Wide capital femoral epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008784 UMLS:C4024622 Wide end part of innermost thighbone Abnormally wide morphology of the proximal epiphysis of the femur. HP:0007456 Progressive reticulate hyperpigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007456 UMLS:C4024872 HP:0007455 Adermatoglyphia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007455 UMLS:C1852150|MSH:C565010 HP:0008786 Iliac crest serration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008786 UMLS:C1857186 Lacy appearance of iliac crest|Irregular lacy iliac crest Irregularities of the iliac crest that produce the appearance of a lace border around it. HP:0007450 Increased groin pigmentation with raindrop depigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007450 UMLS:C4024875 HP:0008780 Congenital bilateral hip dislocation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008780 UMLS:C0158713|SNOMEDCT_US:10155006 HP:0007452 Midface capillary hemangioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007452 UMLS:C1849377 Midfacial capillary hemangioma HP:0008783 Wide proximal femoral metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008783 UMLS:C4024623 Wide metaphysis of innermost thighbone Increased width of the proximal part of the shaft (metaphysis) of the femur. HP:0006121 Acral ulceration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006121 UMLS:C1860099 A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe. HP:0007451 Ipsilateral lack of facial sweating biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007451 UMLS:C4024874 HP:0008716 Urethrovaginal fistula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008716 UMLS:C0269133|SNOMEDCT_US:50477003 Urethrovaginal fistulae The presence of a fistula between the vagina and the urethra. HP:0008715 Testicular dysgenesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008715 SNOMEDCT_US:253847002|UMLS:C0302885 HP:0008718 Unilateral renal dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008718 UMLS:C0431697|SNOMEDCT_US:204951002 A unilateral form of developmental dysplasia of the kidney. HP:0008717 Unilateral renal atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008717 SNOMEDCT_US:424998002|UMLS:C1827184 Unilateral kidney wasting|Kidney degeneration on one side A unilateral form of atrophy of the kidney. HP:0008711 Benign prostatic hyperplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008711 UMLS:C1704272|MSH:D011470|SNOMEDCT_US:266569009|UMLS:C0005001 Benign prostatic hypertrophy The presence of non-malignant hyperplasia of the prostate. HP:0008714 Ureterovesical stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008714 UMLS:C4024633 HP:0008726 Hypoplasia of the vagina biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008726 SNOMEDCT_US:253836009|UMLS:C1442988|UMLS:C0345309 Hypoplastic vagina|Underdeveloped vagina|Rudimentary vagina Developmental hypoplasia of the vagina. HP:0008729 Absence of labia majora biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008729 UMLS:C1849575 Absent vaginal lips HP:0008723 Gonadal dysgenesis with female appearance, male biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008723 UMLS:C4020788|UMLS:C4024632 Xy female gonadal dysgenesis Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation. HP:0008722 Urethral diverticulum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008722 SNOMEDCT_US:90531003|UMLS:C0152443 The presence of a diverticulum (sac or pouch) in the wall of the urethra. HP:0008724 Hypoplasia of the ovary biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008724 UMLS:C0685840|SNOMEDCT_US:93279005|UMLS:C1835452 Hypoplastic ovary|Underdeveloped ovary Developmental hypoplasia of the ovary. HP:0008720 Primary testicular failure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008720 UMLS:C1384582|SNOMEDCT_US:370997001|SNOMEDCT_US:48723006 HP:0008708 Partial development of the penile shaft biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008708 UMLS:C1837379 HP:0008705 Ureteral triplication biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008705 UMLS:C4024635 HP:0008707 Absent scrotum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008707 SNOMEDCT_US:249233008|UMLS:C0426320 Absent scrotum Congenital absence of the scrotum. HP:0008706 Distal urethral duplication biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008706 UMLS:C4024634 HP:0008703 Gonadal calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008703 UMLS:C4024636 Deposition of calcium salts in gonadal tissue. HP:0008702 Absent internal genitalia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008702 UMLS:C4024637 HP:0032391 Subcortical heterotopia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032391 A form of heterotopia were the mislocalized gray matter is located deep within the white matter. HP:0031060 Impaired ability to dress oneself biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031060 This applies to an individual who needs help with dressing or needs to be completely dressed. HP:0032390 Periventricular ribbonlike heterotopia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032390 Heterotopia that forms a continuous wavy line along the ventricular wall. HP:0031061 Impaired toileting ability biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031061 This term applies to an individual who requires help transferring to the toilet, cleaning self or who uses bedpan or commode. HP:0032393 Diffuse ribbon-like subcortical heterotopia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032393 Subcortical heterotopia consisting of a bilateral and symmetric single continuous, undulating ribbon-like layer of gray matter located in the frontal, parietal and occipital lobes. It has no visible connection to the overlying cortex. HP:0032392 Nodular subcortical heterotopia in peritrigonal regions biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032392 Solid nodular heterotopia situated in the region of the peritrigonal optic pathway posterior to the deep gray nuclei. HP:0031062 Impaired transferring ability biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031062 Applies to an individual who needs help in moving from bed to chair or requires a complete transfer. HP:0031067 Empty ovarian follicle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031067 Empty follicle syndrome A failure to collect oocytes after an apparently normal controlled ovarian hyperstimulation cycle for in vitro fertilization. HP:0032399 Dysgyria with normal cortical thickness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032399 An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation but with a normal thickness of the cortex. HP:0032398 Dysgyria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032398 An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation. HP:0031068 Increased femoral torsion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031068 Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion exceeds this range. HP:0031069 Abnormal femoral torsion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031069 Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range. HP:0031063 Impaired feeding ability biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031063 Applies to an individual who needs partial or total help with feeding or requires parenteral feeding. HP:0032395 Curvilinear subcortical heterotopia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032395 Giant heterotopia Large subcortical heterotopia of variable morphology wiht streaks and swirls. These always connect to the overlying cortex in at least one, but usually in multiple, locations. Spaces with the signal intensity of CSF are usually seen within the heterotopia. HP:0031064 Impaired continence biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031064 Partial or total incontinence of bowel or bladder. HP:0032394 Mesial parasagittal subcortical heterotopia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032394 Subcortical heterotopia extending along the mesial aspect of the lateral ventricles, with direct connection to mesial polymicrogyria-like cortex at the anterior and posterior limits of the heterotopia. HP:0032397 Citrullinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032397 An increased concentration of citrulline in the urine. HP:0031065 Abnormal ovarian morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031065 HP:0031066 Abnormal ovarian physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031066 Any anomaly of ovarian function. HP:0032396 Transmantle columnar heterotopia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032396 Linear heterotopia spanning from the cerebral mantle from the pia to the ependyma. HP:0031070 Decreased femoral torsion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031070 Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion is below this range. HP:0031071 Abnormal endocrine morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031071 Any anomaly of the structure of an organ ofthe endocrine system. HP:0031072 Abnormal endocrine physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031072 Any anomaly of the function of the endocrine system. HP:0031073 Abnormal response to endocrine stimulation test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031073 An anomalous response to a test that is designed to probe the function of the endocrine system. HP:0031078 Impaired cortisol response to corticotropin releasing hormone stimulation test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031078 Failure of cortisol levels to respond adequately (by increasing) to the corticotropin releasing hormone stimulation test. HP:0031079 Impaired growth-hormone response to insulin stimulation test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031079 Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT). HP:0031074 Abnormal response to ACTH stimulation test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031074 Abnormal response to corticotropin stimulation test|Abnormal response to adrenocorticotropic-hormone stimulation test An anomolous response to stimulation by adminstration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline. HP:0031075 Abnormal response to insulin tolerance test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031075 An anomalous response to the insulin tolerance test (ITT), in which insulin is administered intravenously and blood glucose and potentially other compounds are measured at intervals. Insulin administration is intended to induce extreme hypoglycemia (bloodgluoce below 40 mg/dl), which in turn induces release of adrenocorticotropic hormone (ACTH) and growth hormone (GH). ACTH induces the adrenal gland to release cortisol, which together with GH opposes the action of insulin on the blood glucose level. HP:0031076 Impaired cortisol response to insulin stimulation test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031076 Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT). HP:0031077 Abnormal response to corticotropin releasing hormone stimulation test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031077 Abnormal response to CRH stimulation test An anomalous response to the corticotropin releasing hormone (CRH) stimulation test. Normally,CRH is released by the hypothalamus to induce adrenocorticotropic hormone (ACTH) release by the anterior pituitary. In the stimulation test, CRH is administered intravenously and ACTH and cortisol are measured at intervals. HP:0031081 Impaired cortisol response to glucagon stimulation test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031081 Failure of cortisol levels to respond adequately (by increasing) to the glucagon stimulation test. HP:0031082 Impaired growth-hormone response to glucagon stimulation test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031082 Failure of growth hormone levels to respond adequately (by increasing) to the glucagon stimulation test. HP:0031083 Abnormal response to human chorionic gonadotrophin stimulation test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031083 Abnormal response to hCG stimulation test An anomalous response to intravenous stimulation by human chorionic gonadotrophin. Stimulation with hCG stimulates testicular Leydig cells to secrete androgens via the Leydig hormone receptors. HP:0031084 Excessive insulin response to glucagon test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031084 An abnormally high increase in insulin levels following a glucagon stimulation test. HP:0031080 Abnormal response to glucagon stimulation test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031080 An anomalous response to the glucagon stimulation test, which like the insulin tolerance test (ITT) stimulates the release of both adrenocorticotropic hormone (ACTH) and growth hormone (GH). HP:0031089 Palatal edema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031089 Palate edema|Palatal oedema Swelling related to fluid accumulation within the palate. HP:0031085 Decreased prealbumin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031085 A reduced concentration of prealbumin in the blood. Prealbumin, also known as transthyretin, has a half-life in plasma of about 2 days, much shorter than that of albumin. Prealbumin is therefore more sensitive to changes in protein-energy status than albumin, and its concentration closely reflects recent dietary intake rather than overall nutritional status. HP:0031086 Ectopic ovary biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031086 Undescended ovary Undescended or ectopic ovaries are characterized by the attachment of the upper pole of the ovary to an area above the level of the common iliac vessels. HP:0031087 Absent pubertal growth spurt biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031087 Absent adolescent growth spurt The abrupt and transient increase in the annual growth rate normally observed in adolescent individuals does not occur. HP:0031088 Vaginal dryness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031088 Persistent vaginal dryness. HP:0031092 Spindle-shaped finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031092 Swelling of the hand at the knuckles, that gives the fingers a spindle shape (i.e., a round stick with tapered end and a broader base). HP:0031093 Abnormal breast morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031093 Any anomaly of the structure of the breast. HP:0031094 Abnormal breast physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031094 Any anomaly of the function of the breast. HP:0031095 Abnormal humerus morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031095 Any anomaly of the structure of the humerus. HP:0031090 Finger dactylitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031090 Sausage fingers Fingers appear swollen and plump owing to inflammation of the complete finger. HP:0031091 Toe dactylitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031091 Sausage toes Toes appear swollen and plump owing to inflammation of the complete toe. HP:0031096 Delayed vertebral ossification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031096 A decrease in the amount of mineralized bone in one or more vertebrae compared with that expected for a given developmental age. HP:0031097 Abnormal thyroid-stimulating hormone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031097 Abnormal thyrotropin level|Abnormal circulating thyrotropin concentration|Abnormal TSH 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. HP:0031098 Decreased thyroid-stimulating hormone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031098 Decreased plasma TSH|Decreased thyrotropin 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. HP:0031099 Abnormal circulating inhibin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031099 Any deviation from the normal concentration of inhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone. HP:0032591 Renal interstitial hemosiderin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032591 Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney. HP:0032590 Renal neutrophilic tubulitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032590 Infiltration of the renal tubular epithelium by neutrophils. HP:0031260 Triangular tibia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031260 A short, dysplastic tibia with a triangular shape. Instead of the normal shaft configuration of the tibia, the tibia forms a triangle with the longest side corresponding to the proximal-distal dimension, and the apex of the triangle directed laterally. HP:0031265 Abnormal glomerular visceral epithelial cell morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031265 Abnormal podocyte morphology|Abnormal visceral epithelial cell morphology Any structural anomaly of the podocyte, which is a highly specialized cell of the Bowman capsule and which forms multiple interdigitating foot processes. Podocytes are interconnected by slit diaphragms and cover the exterior basement membrane surface of the glomerular capillary. HP:0032597 Renal tubular epithelial cell sloughing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032597 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. HP:0031266 Podocyte foot process effacement biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031266 Loss of primary podocyte processes An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier. HP:0032596 Renal tubular epithelial cell cytoplasmic vacuolization biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032596 Tubular cross section with intracytoplasmic vacuoles in at least one tubular epithelial cell. This feature is classified as isometric when vacuoles are round and similar in size and coarse when vacuoles were not round in shape or varied in size. HP:0031267 Abnormal CD69 upregulation upon TCR activation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031267 Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus. HP:0032599 Abnormal renal tubular epithelial morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032599 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. HP:0032598 Blebbing of apical cytoplasm of renal tubular epithelial cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032598 Tubular cross section with round/irregular cytoplasmic protrusion, shaped like the Greek capital letter Omega (or it may be more vertically elongated Omega), pinched off from apical membrane without apparent closure of the lumen, involving over 50 percent of the tubular cells in cross section. The feature can be further classified into proximal or distal tubule. HP:0031268 Decreased CD69 upregulation upon TCR activation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031268 Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR). HP:0031261 Bladder polyp biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031261 An abnormal growth that projects from the mucous membrane of the urinary bladder. HP:0032593 Myoglobin casts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032593 A type of acelluar casts with positive myoglobin staining A that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. HP:0032592 Aplasia of the right hemidiaphragm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032592 Right diaphragmatic hernia Congenital absence of the right-sided diaphragm. HP:0032595 Renal tubular epithelial cell detachment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032595 Tubular cross section with a space between the basolateral aspect of tubular epithelium and its basement membrane; classified as global when at least 2/3 circumference of the tubular cross section are involved and segmental when less than 2/3 are involved. HP:0031263 Abnormal renal corpuscle morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031263 Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule. HP:0031264 Abnormal Bowman capsule morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031264 Abnormal morphology of Bowman capsule|Abnormal morphology of Bowman's capsule|Abnormal renal glomerular capsule morphology A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule. HP:0032594 Renal tubular basement membrane denudation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032594 Denuded tubular basement membrane Naked basement membranes without tubular epithelium. HP:0031269 Abnormal CD25 upregulation upon TCR activation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031269 Any abnormality in the upregulation of CD25 on T cells after activation via the T cell receptor (TCR). CD25 is the alpha chain of the IL2 receptor. Ligation of the T cell antigen receptor leads to the induction of CD25 expression. HP:0006298 Prolonged bleeding after dental extraction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006298 UMLS:C1969572 Prolonged bleeding after dental extraction Prolonged bleeding post dental extraction sufficient to require medical intervention. HP:0006297 Hypoplasia of dental enamel biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006297 SNOMEDCT_US:699421005|UMLS:C4280457|UMLS:C1851854|MSH:D003744|UMLS:C4280456|SNOMEDCT_US:699382004|SNOMEDCT_US:26597004|UMLS:C0011351 Enamel dysplasia|Thin tooth enamel|Thin dental enamel|Dysplasia of tooth enamel|Defective enamel matrix|Enamel hypoplasia|Underdeveloped teeth enamel|Dental enamel hypoplasia|Hypoplasia of tooth enamel Developmental hypoplasia of the dental enamel. HP:0031270 Decreased CD25 upregulation upon TCR activation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031270 Poor CD25 upregulation upon TCR activation|Reduced IL2RA upregulation upon TCR activation Decreased or impaired upregulation of CD25 on T cells after activation via the T cell receptor (TCR). HP:0031271 Absent ankle pulse biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031271 The pulsation of the posterior tibial artery behind the internal malleolus, or of the dorsalis pedis artery, cannot be detected on physical examination. HP:0031276 Obstructive shock biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031276 A type of shock characterized by inadequate cardiac preload due to obstructed venous return (e.g. pericardial tamponade, tension pneumothorax, abdominal compartment) or obstruction of arterial blood flow (e.g. pulmonary embolism). HP:0031278 Abnormal thoracic duct morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031278 Any structural anomaly of the thoracic duct. HP:0031279 Abnormal response to gonadotropin-releasing hormone stimulation test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031279 Abnormal response to GnRH stimulation test An abnormal response to the gonadotropin-releasing hormone (GnRH) stimulation test. This test typically involves intravenous administration of GnRH followed by repeated blood sampling at various time points to measure the levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH). HP:0031272 Pulmonary arterial atherosclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031272 Accumulation of lipids and inflammatory cells along the inner walls of the pulmonary artery. HP:0031273 Shock biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031273 The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury. HP:0031274 Hypovolemic shock biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031274 A state of shock characterized by decreased circulating blood volume in relation to total vascular capacity. This type of shock is characterized by a reduction of diastolic filling pressures. HP:0031275 Distributive shock biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031275 A hyperdynamic process resulting from excessive vasodilatation. Impaired blood flow causes inadequate tissue perfusion, which can lead to end-organ damage HP:0006280 Chronic pancreatitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006280 SNOMEDCT_US:235494005|SNOMEDCT_US:233870001|SNOMEDCT_US:234689009|MSH:D050500|UMLS:C0149521 Chronic pancreas inflammation A chronic form of pancreatitis. HP:0031280 Increased LH response to gonadotropin-releasing hormone stimulation test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031280 An abnormally high amount of luteinizing hormone (LH) is released upon gonadotropin-releasing hormone stimulation test. HP:0031281 Sialadenitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031281 Inflammation of a salivary gland. HP:0031282 Malalignment of the great toenail biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031282 A lateral deviation of the nail plate of the great toe along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges. HP:0006282 Generalized hypoplasia of dental enamel biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006282 UMLS:C4025070|UMLS:C4280462 Generalized dysplasia of tooth enamel|Generalized hypoplasia of tooth enamel|Generalised hypoplasia of dental enamel A generalized form of developmental hypoplasia of the dental enamel. HP:0031287 Seborrheic keratosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031287 Seborrheic verruca|Senile wart|Basal cell papilloma A raised growth on the skin of older individuals. The lesion usually is initially light tan and may darken to dark brown or nearly black. The consistent feature of seborrheic keratoses is their waxy, pasted-on or stuck-on look. HP:0031288 Cobblestone-like hyperkeratosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031288 The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones. HP:0031289 White papule biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031289 A papule with white color. HP:0031283 Tufted hairs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031283 The presence of tufts of 8-15 hairs that appear to emerge from a single follicular orifice. HP:0031284 Flushing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031284 Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin. HP:0031285 Abnormal perifollicular morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031285 Any structural anomaly in the areas surrounding the hair follicles. HP:0031286 Perifollicular erythema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031286 Redness surrounding the hair follicles. HP:0006276 Hyperechogenic pancreas biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006276 UMLS:C1857945 HP:0006277 Pancreatic hyperplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006277 UMLS:C1851733 Hyperplasia of the pancreas. HP:0006278 Ectopic pancreatic tissue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006278 UMLS:C0994638|SNOMEDCT_US:264304000 Abnormal pancreas location The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut. HP:0006279 Beta-cell dysfunction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006279 UMLS:C1969875 HP:0006273 Pancreatic lymphangiectasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006273 UMLS:C1856162 The presence of lymphangiectasis in the pancreas. HP:0006274 Reduced pancreatic beta cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006274 UMLS:C1856904 Reduced number of beta cells in the pancreatic islets of Langerhans. HP:0031290 Tuberous xanthoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031290 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. HP:0006290 Discolored lateral incisors biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006290 UMLS:C4280459|UMLS:C1866510 Abnormality of color of front teeth|Discoloured lateral incisors|Abnormality of color of lateral incisor|Abnormality of shade of lateral incisor|Discolored front teeth The presence of discolored lateral incisors. HP:0006291 Marked delay in eruption of permanent teeth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006291 UMLS:C1863009 Very late eruption of adult teeth|Severe delay of eruption of adult teeth|Severe delay of eruption of permanent teeth|Very late eruption of permanent teeth HP:0031291 Ichthyosis follicularis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031291 Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed. HP:0006292 Abnormality of dental eruption biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006292 SNOMEDCT_US:1086101000119107|SNOMEDCT_US:234949000|UMLS:C0012767|UMLS:C1859363|UMLS:C3874458 Anomaly of dental eruption|Disorder of dental eruption|Disturbance of dental eruption|Disorder of tooth eruption|Anomaly of tooth eruption|Abnormality of tooth eruption|Abnormal dental eruption|Disturbance of tooth eruption An abnormality of tooth eruption. HP:0031292 Cutaneous abscess biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031292 Skin abscess A circumscribed area of pus or necrotic debris in the skin. HP:0006293 Agenesis of maxillary central incisor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006293 UMLS:C4025068|UMLS:C4280458 Missing maxillary central incisor|Absence of maxillary central incisor|Failure of development of maxillary central incisor|Missing upper central incisor Agenesis of upper secondary incisor or of upper central primary incisor. HP:0031293 Digital pitting scar biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031293 Pinhole-sized concave depressions with hyperkeratosis in the skin of a finger or toe. HP:0031298 Coronary sinus enlargement biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031298 Enlarged coronary sinus|Coronary sinus dilatation Abnormal increase in size of the coronary sinus. HP:0031299 Elevated left atrial pressure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031299 An abnormal increase in magnitude of the pressure in the left atrium. HP:0031294 Hypoplastic right atrium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031294 Underdeveloped, small right heart atrium. HP:0031295 Left atrial enlargement biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031295 Fyler:3011|Fyler:3020 Enlarged heart left atrium Increase in size of the left atrium. HP:0031296 Atrial septal hypertrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031296 An abnormal increase in the thickness of the atrial septum. HP:0031297 Unroofed coronary sinus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031297 Unroofed coronary sinus (CS) is a rare congenital cardiac anomaly in which there is partial (either focal or fenestrated) or complete absence of the roof of the CS, which results in a communication between the CS and the LA. Unroofed CS is the rarest type of atrial septal defect. It is often associated with persistent left superior vena cava (LSVC) and other forms of complex congenital heart disease, usually heterotaxia syndromes. The morphological types have been classified into 4 groups: Type I, completely unroofed with persistent LSVC; type II, completely unroofed without persistent LSVC; type III, partially unroofed mid portion; and type IV, partially unroofed terminal portion. HP:0006288 Advanced eruption of teeth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006288 SNOMEDCT_US:16000003|UMLS:C0266054 Eruption, advanced|Advanced dental eruption|Advanced tooth eruption|Early eruption of teeth|Premature eruption of teeth|Premature tooth eruption|Premature dental eruption|Early dental eruption Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age. HP:0006289 Agenesis of central incisor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006289 UMLS:C1855000|UMLS:C4020819 Missing central incisors|Failure of development of central incisor|Absent central incisor|Absent central incisors Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor. HP:0006283 Multiple unerupted teeth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006283 UMLS:C4025069 Failure of eruption of multiple teeth|Multiple non-erupting teeth|Multiple unerupted teeth The presence of multiple embedded tooth germs which have failed to erupt. HP:0006285 Hypomineralization of enamel biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006285 UMLS:C4280253|UMLS:C3665628|UMLS:C4280461|UMLS:C4280460|SNOMEDCT_US:109487003 White spot lesions of tooth enamel|Mottled tooth enamel|Decreased enamel mineralisation|Fluorosis of tooth enamel|Poorly mineralized tooth enamel|Increased porosity of tooth enamel A decreased amount of enamel mineralization. HP:0006286 Yellow-brown discoloration of the teeth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006286 UMLS:C1863008 Yellow-brown discoloration of the teeth|Yellow-brown tooth shade|Yellow-brown discolored teeth HP:0032553 Weak pulse biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032553 A diminution in the amplitude (strength) of the pulse such that the examiner has difficulty feeling the pulse. HP:0031221 Abnormal radioactive iodine uptake test result biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031221 Any deviation from normal in the amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker. HP:0031222 Increased circulating thyroxine-binding globulin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031222 An elevated concentration of thyroxine-binding globulin (TBG) in the blood. HP:0032552 Abnormal pulse biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032552 An anomaly of the rhythmic throbbing of an artery that reflects the widening of the artery as blood flows through it and is caused by successive contractions of the heart. HP:0031223 Focal pancreatic islet hyperplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031223 Hyperplasia of the islets of Langerhans that affects only certain regions of the pancreas and not others. HP:0032555 Bounding pulse biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032555 Increased amplitude (strength) of the pulse. HP:0032554 Absent pulse biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032554 The pulsation of an artery where the pulse is taken (e.g. the radial artery at the wrist) cannot be detected on physical examination. HP:0031224 Diffuse pancreatic islet hyperplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031224 Hyperplasia of the islets of Langerhans with a generalized distribution. HP:0032551 Hemorrhoids biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032551 Haemorrhoids|Piles Enlarged, bulging blood vessels in and around the anus often associated with rectal bleeding, itching, and pain. HP:0032550 Howell-Jolly bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032550 Howell-Jolly bodies are small, intra-erythrocytic remnants of erythrocyte nuclei. These inclusions are solitary in each erythrocyte and strongly basophilic. These are often confused with overlying platelets, but can be distinguished by the presence of a halo around overlying platelets. HP:0031220 Increased radioactive iodine uptake biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031220 An elevated amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker. HP:0031229 Increased incisura length biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031229 The length of the incisura from the upper to lower border is greater than that observed in the average population. HP:0032557 History of bone marrow transplant biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032557 Status post hematopoietic stem cell transplantation A past medical history of hematopoietic stem cell transplantation involving myeloablative chemoradiotherapy followed by stem cell rescue with autologous or human leukocyte antigen (HLA)-matched stem cells derived from a donor. HP:0031225 Intrapulmonary shunt biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031225 Intrapulmonary shunting Blood flow through a region of the lung in which little or no ventilation takes place, resulting in reduced oxygenation of the blood leaving the lungs. HP:0031226 Perinephric fluid collection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031226 An accumulation of fluid in one or more of the perinephric spaces, which consist of the subcapsular, perirenal, anterior and posterior pararenal spaces. This abnormality can be demonstrated by cross-sectional imaging, particularly computed tomography. HP:0032556 Circumoral cyanosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032556 Bluish lips Persistent blue color of the skin that surrounds the mouth. HP:0031227 Nasopharyngeal teratoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031227 A teratoma arising in the nasopharyngeal region. HP:0032559 Short sperm flagella biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032559 Sperm cells with abnormally short flagella. HP:0032558 Absent sperm flagella biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032558 Sperm cells lacking flagella. HP:0031228 Abnormal incisura morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031228 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. HP:0032564 Ileitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032564 Inflammation of the ileum Inflammation of the ileum. HP:0031232 Increased incisura width biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031232 Breadth of the incisura from the anterior to posterior border greater than that observed in the average population. HP:0032563 Dacryocytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032563 Tear-drop shaped erythrocytes|Dacryocytes Presence of teardrop-shaped red blood cells. HP:0031233 Horizontal inferior border of scapula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031233 Squaring of the inferior scapulae|Squaring of the scapula A morphological abnormality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape). HP:0031234 Neutrophilic infiltration of the skin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031234 A predominantly neutrophilic infiltrate of the dermis and or epidermis (i.e., a large number of neutrophils inferred to have migrated into the skin). HP:0032566 Oval macrocytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032566 Enlarged, oval-shaped erythrocytes (red blood cells). HP:0032565 Vaginal mucosal ulceration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032565 HP:0031235 Predominantly epidermal neutrophilic infiltrate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031235 Collection of neutrophils in the epidermis. HP:0032560 Coiled sperm flagella biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032560 Sperm cells whose flagella are twisted (coiled). HP:0032562 Tapered sperm head biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032562 Sperm with cigar-shaped heads that gradually dimish in diameter (taper). HP:0031230 Decreased incisura length biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031230 The length of the incisura from the upper to lower border is less than that observed in the average population. HP:0031231 Narrow incisura width biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031231 Width of the incisura from the anterior to posterior border less than that observed in the average population. HP:0032561 Microcephalic sperm head biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032561 Small-head sperm Decreased size of the head of sperm. HP:0032568 Urinary mulberry cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032568 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. HP:0031236 Predominantly dermal neutrophilic infiltrate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031236 Collection of neutrophils in the dermis. HP:0031237 Internally nucleated skeletal muscle fibers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031237 Internally nucleated skeletal muscle fibres An abnormality in which the nuclei of sarcomeres take on an abnormally internal localization (or in which this feature is found in an increased proportion of muscle cells). HP:0032567 Lipiduria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032567 Urinary lipid excretion An increased lipid content in the urine. HP:0031238 Necklace skeletal muscle fibers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031238 Necklace skeletal muscle fibres A histological alteration of muscle fibers that resembles a necklace (necklace fibers). A substantial proportion of fibers (4-20% in PMID:19084976) show internalized nuclei aligned in a basophilic ring (necklace) at 3 micrometers beneath the sarcolemma. Ultrastructurally, such necklaces consist of myofibrils of smaller diameter, in oblique orientation, surrounded by mitochondria, sarcoplasmic reticulum and glycogen granules. HP:0032569 Temporal bossing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032569 HP:0031239 Extrafoveal choroidal neovascularization biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031239 A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 200 to 1500 micrometers from the center of the fovea. HP:0032575 Decreased circulating 12-HETE biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032575 Decreased circulating 12-Hydroxyeicosatetraenoic acid concentration A reduction in the concentration of 12-HETE in the blood circulation, a metabolite of arachidonic acid. HP:0031243 Decreased VLDL cholesterol concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031243 Decreased circulating very-low-density lipoprotein levels A reduction in the amount of very-low-density lipoprotein cholesterol in the blood. HP:0031244 Swollen lip biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031244 Swelling of the lip Enlargement of the lip typically due to fluid buildup or inflammation. HP:0032574 Elevated uridine in urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032574 Elevated uridine in urine Increased levels of urinary uridine, a ribonucleoside composed of a molecule of uracil attached to a ribofuranose moiety via a beta-N1 glycosidic bond. HP:0031245 Productive cough biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031245 Wet cough A cough that produces phlegm or mucus. HP:0032577 Clonal T cell receptor rearrangement biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032577 Presence of a predominant T cell clone. In PCR-based assays, this finding is inferred on the basis of one or two prominent bands within a valid size range. In NGS-based assays, this finding is inferred on the basis of a high number of reads that map to a single T cell receptor clone. HP:0031246 Nonproductive cough biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031246 Dry coughing|Dry cough A cough that does not produce phlegm or mucus. HP:0032576 Intracellular accumulation of Dol-PP-GlcNAc2Man5 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032576 Intracellular accumulation of the lipid-linked oligosaccharide intermediate Man5GlcNAc2-PP-dolichol. HP:0032571 Increased oocyte death biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032571 An increase in death of oocytes, the female germ cell (egg cell), which can be observed clinically in the setting of in vitro fertilization. HP:0032570 Pontine ischemic lacunes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032570 Pontine ischaemic lacunes Lacunes are infarcts less than 15 mm in diameter in the cortical white matter or in the corona radiata, internal capsule, centrum semiovale, thalamus, basal ganglia, or pons. HP:0031240 Juxtafoveal choroidal neovascularization biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031240 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. HP:0031241 Subfoveal choroidal neovascularization biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031241 A type of choroidal neovascularization in which the area of neovascularization overlaps with the center of the fovea. HP:0032573 Elevated urinary cytidine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032573 Increased levels of urinary cytidine, a pyrimidine nucleoside in which cytosine is attached to ribofuranose via a beta-N1 glycosidic bond. HP:0031242 Decreased circulating chylomicron concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031242 Decreased circulating chylomicron levels|Hypochylomicronemia Reduced plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins. HP:0032572 Abnormal urinary nucleobase concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032572 A deviation from the normal level of a nucleobase in the urine. Nucleobases are nitrogen-containing biological compounds that form nucleosides: adenine (A), cytosine (C), guanine (G), thymine (T), and uracil (U). HP:0032579 Vascular hamartoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032579 A benign focal growth composed of vascular tissue. HP:0031247 Whooping cough biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031247 A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air. HP:0032578 Third ventricle colloid cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032578 An epithelial lined cyst filled with gelatinous material. The gelatinous material commonly contains mucin, old blood, cholesterol, and ions. Most colloid cysts identified are currently asymptomatic and identified incidentally on imaging. When a colloid cyst does cause issues, it most commonly causes obstructive hydrocephalus. HP:0031248 Palmar pruritus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031248 Itchy palm Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand. HP:0031249 Parageusia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031249 Dysgeusia|Metallic taste in mouth|Metallic taste A distortion of the sense of taste, often characterized by the sensation of a metallic taste. HP:0032580 Abnormal bulbus cordis morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032580 Abnormal structure of the bulbus cordis, which is the single outflow tract of the heart during early embryogenesis. HP:0032586 Renal interstitial plasma cell infiltration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032586 Increased numbers of plasma cells in the interstitial tissues of the kidney. HP:0031254 Thalamic arteriovenous malformation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031254 An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the thalamus. HP:0032585 Renal interstitial eosinophil infiltration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032585 Increased numbers of eosinophils in the interstitial tissues of the kidney. HP:0031255 Hypothalamic arteriovenous malformation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031255 An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the hypothalamus. HP:0032588 Hand apraxia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032588 Lack of purposeful hand use Inability to perform purposeful (learned) movements with the hand upon command, even though the command is understood and there is a willingness to perform the movement. Hand apraxia includes the inability to grasp, pick up, and hold large and small objects. HP:0031256 Optic nerve arteriovenous malformation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031256 An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the optic nerve. HP:0031257 Arteriovenous malformation of the maxilla biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031257 An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the maxilla. HP:0032587 Renal interstitial calcium oxalate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032587 The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney. HP:0031250 Lip fissure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031250 A severe crack in a lip. A lip fissure may be painful, may bleed and often is a recurring manifestation. HP:0032582 Renal interstitial foam cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032582 Accumulation of foam cells (FC) in the interstitium of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles. HP:0032581 Abnormal renal insterstitial morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032581 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. HP:0031251 Abnormal subclavian artery morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031251 Any anomaly of a subclavian artery. HP:0031252 Dilated left subclavian artery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031252 Abnormally increased caliber of the left subclavian artery. HP:0032584 Renal interstitial neutrophil infiltration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032584 Increased numbers of neutrophils in the interstitial tissues of the kidney. HP:0032583 Renal glomerular foam cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032583 HP:0031253 Anomalous origin of left subclavian artery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031253 Origin of the left subclavian artery from an anomalous anatomical location. HP:0031258 Delirium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031258 A state of sudden and severe confusion. HP:0032589 Renal lymphocytic tubulitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032589 Infiltration of the renal tubular epithelium by lymphocytes. HP:0031259 Oophoritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031259 Inflammed ovary An inflammation of the ovary or ovaries. HP:0032511 Superiorly positioned umbilicus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032511 The position of the umbilicus (belly button) is abnormally high (superior). HP:0032510 Tendon pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032510 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to a tendon. HP:0032517 Majocchi's granuloma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032517 Majocchi's granuloma (MG) is an inflammatory and granulomatous, dermatophytic infection characterized by a granulomatous inflammation around the hair follicle. Histopathologically, MG demonstrates a nodular perifollicular granulomatous infiltrate of lymphoid cells, macrophages, epithelioid cells, multinucleated giant cells, and neutrophils. Unlike superficial dermatophytoses, fungal hyphae and spores can be detected not only on the surface of the epidermis but also within or around the hair follicles. HP:0007549 Desquamation of skin soon after birth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007549 UMLS:C1842714 HP:0032516 Invasive dermatophyte infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032516 Infection that extends deeply into the dermins by dermatophytes, fungi that typically cause different types of superficial infection (tinea) or skin, hair, or nails. HP:0032519 Increased Burr cell count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032519 Burr cells, also known as echinocytes, have a speculated border over the entire cell surface. Burr cells are commonly found in both end-stage renal disease and liver disease. Small numbers of Burr cells are commonly found in healthy individuals. HP:0032518 Disseminated dermatophytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032518 A type of invasive dermatophyte infection characterized by vascular involvement and dissemination to other organs. HP:0032513 Four-vessel umbilical cord biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032513 Four-vessel umbilical cord containing two arteries and two veins. HP:0007546 Linear hyperpigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007546 UMLS:C3278658 HP:0007545 Congenital palmoplantar keratosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007545 UMLS:C1855633 HP:0006216 Single interphalangeal crease of fifth finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006216 UMLS:C1850336 Fifth finger single interphalangeal crease Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger. HP:0032515 Deep dermatophytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032515 A type of invasive dermatophyte infection of the deep dermis characterized by extensive dermal infiltration by fungal elements. HP:0007548 Palmoplantar keratosis with erythema and scale biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007548 UMLS:C1843294 HP:0006217 Limited mobility of proximal interphalangeal joint biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006217 UMLS:C1857288 Limited mobility of innermost hinge joint HP:0032514 Duplicated lacrimal punctum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032514 Lacrimal punctum, duplication|Double lacrimal puncta A congenital developmental anomaly characterized by the presence of two (instead of the normal one) lacrimal punctum on one or both sides of the face. HP:0007542 Absent pigmentation of the ventral chest biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007542 UMLS:C4024848 Lack of skin pigmentation (coloring) of the anterior chest. HP:0008873 Disproportionate short-limb short stature biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0008873 UMLS:C1849937 Dwarfism, short-limbed|Short limb dwarfism, disproportionate|Micromelic dwarfism|Brachymelic dwarfism|Short-limb dwarfism|Short stature, disproportionate short-limb|Short-limbed dwarfism|Disproportionate short limb dwarfism|Short stature, disproportionate short limb|Short limb dwarfism A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. HP:0006210 Postaxial oligodactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006210 UMLS:C1867927 HP:0007541 Frontal cutaneous lipoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007541 UMLS:C1850970|NCIT:C3192 Presence of a cutaneous lipoma on the forehead. HP:0008872 Feeding difficulties in infancy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008872 UMLS:C2674608 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. HP:0007544 Piebaldism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007544 SNOMEDCT_US:6479008|UMLS:C0080024|MSH:D016116|SNOMEDCT_US:718122005 Piebaldism is characterized by stable and persistent, well-circumscribed depigmented patches present at birth affecting the skin of the face, trunk, and extremities in a symmetrical distribution. HP:0006213 Thin proximal phalanges with broad epiphyses of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006213 UMLS:C1862156|UMLS:C4025079 Thin proximal phalanges with broad epiphyses|Thin innermost bone with broad end part of the hand bone HP:0007543 Epidermal hyperkeratosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007543 UMLS:C1848773 Increased thickness of skin epidermis HP:0032520 Masseter muscular weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032520 Reduced strength of the masseter muscle, whose primary function is to elevate the mandible and thereby raise the mandible towards the maxilla, closing the jaw. HP:0032522 Ameliorated by immunosuppresion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032522 Immunosupressive therapy improves condition Applies to a sign or symptom that is improved or made more bearable by treatment with immunosuppresive medication. HP:0032521 Self hugging biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032521 Spasmodic upper-body squeeze Involuntary, tic-like movements consisted of crossing both arms across the chest and tensing the body or clasping the hands and squeezing the arms to the sides. The movements last a few seconds and may occur in series or flurries, generally accompanied by facial grimacing and occasional grunting. HP:0032528 Elevated urinary 4-hydroxybutyric acid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032528 An increased amount of 4-hydroxybutyric acid in the urine. HP:0032527 Inferiorly positioned umbilicus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032527 Low-set umbilicus|Low set umbilicus The position of the umbilicus (belly button) is abnormally low (inferior). HP:0032529 Elevated circulating gamma-aminobutyric acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032529 Elevated circulating GABA concentration An increased concentration of gamma-aminobutyric acid (GABA) in the blood circulation. HP:0032524 Long thumb biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032524 Length of the thumb is greater than normal. HP:0006226 Osteoarthritis of the first carpometacarpal joint biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006226 SNOMEDCT_US:37895003|UMLS:C0409956 HP:0008887 Adipose tissue loss biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008887 UMLS:C4024615 Loss of fat tissue A loss of adipose tissue. HP:0007556 Plantar hyperkeratosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007556 UMLS:C1856954 Plantar hyperkeratoses Hyperkeratosis affecting the sole of the foot. HP:0032523 Tendon thickening biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032523 An abnormal increase in the thickness (diameter) of a tendon. HP:0032526 Ameliorated by acetylcholinesterase inhibitor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032526 Applies to a sign or symptom that is improved or made more bearable by an acetylcholinesterase inhibitor such as mestinon or tensilon. HP:0007559 Localized epidermolytic hyperkeratosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007559 MSH:D053546|UMLS:C1721006 Localised epidermolytic hyperkeratosis HP:0032525 Aggravated by acetylcholinesterase inhibitor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032525 Applied to a sign or symptom that is worsened by treatment with an acetylcholinesterase inhibitor such as tensilon (edrophonium) or pyridostigmine (Mestinon). HP:0006228 Valgus hand deformity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006228 UMLS:C1860179 HP:0007553 Congenital symmetrical palmoplantar keratosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007553 UMLS:C1855459 HP:0008883 Mild intrauterine growth retardation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008883 UMLS:C1840006 Mild prenatal growth deficiency Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age. HP:0007552 Abnormal subcutaneous fat tissue distribution biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007552 UMLS:C1859347 Abnormal fat tissue distribution below the skin HP:0007554 Confetti hypopigmentation pattern of lower leg skin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007554 UMLS:C4024847 Confetti hypopigmentation pattern of lower leg skin HP:0006224 Tapering pointed ends of distal finger phalanges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006224 UMLS:C4025078 A reduction in diameter of the distal phalanx of finger towards the distal end such that the tip of the phalanx comes to a point (this feature can be observed on radiograms). HP:0007550 Hypohidrosis or hyperhidrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007550 UMLS:C4021831 Lack of sweating or excessive sweating HP:0032531 Elevated CSF gamma-aminobutyric acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032531 HP:0031200 Hyaline casts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031200 A type of acellular urinary cast that are composed only of Tamm-Horsfall glycoprotein, a fact which explains their low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends. HP:0032530 Decreased succinic semialdehyde dehydrogenase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032530 Reduced level of succinic semialdehyde dehydrogenase (SSADH). HP:0031201 Granular casts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031201 A type of acelluar casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. HP:0032533 Elevated circulating acetone concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032533 An increased level of acetone in the blood circulation. Acetone is one of the predominant ketone bodies. HP:0031202 Waxy casts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031202 A type of acellular urinary casts that display a melted wax (waxy) appearance, which gives them a high refractive index. They are frequently dark, with blunt extremities, indented and cracked edges and a large size, which is often several times that of other types of casts. HP:0032532 Elevated CSF 4-hydroxybutyric acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032532 Elevated CSF gamma-hydroxybutyric acid|Elevated CSF GHB levels Abnormally increased level of 4-hydroxybutyric acid in the cerebrospinal fluid (CSF). HP:0032539 Joint extensor surface localization biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032539 Applies to an abnormality that is situated in extensor surface of the joint. The extensor surface refers to the skin on the opposite side of a joint. HP:0031207 Hepatic hemangioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031207 Hemangioma of the liver|Liver hemangioma A congenital vascular malformation in the liver composed of masses of blood vessels that are atypical or irregular in arrangement and size. HP:0031208 Increased pituitary glycoprotein hormone alpha subunit level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031208 Increased pituitary glycoprotein polypeptide alpha subunit level|Increased pituitary glycoprotein alpha subunit level An increased concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones. HP:0032538 Pretibial dimple biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032538 A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lenghten as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg. HP:0031209 Decreased circulating lipoprotein lipase concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031209 Decreased lipoprotein lipase level Reduction in the level of lipoprotein lipase in the blood. HP:0007529 Hidrotic ectodermal dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007529 UMLS:C0162361|SNOMEDCT_US:54209007|MSH:D004476 HP:0032535 Cervical (neck) biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032535 Applies to an abnormality that is situated in the neck. HP:0007524 Atypical neurofibromatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007524 MSH:C537392|UMLS:C0220695 HP:0031203 Fatty casts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031203 A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses. HP:0008855 Moderate postnatal growth retardation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008855 UMLS:C4024616 Moderate growth delay in children A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms. HP:0031204 Bacterial cell casts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031204 A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection. HP:0032534 Exacerbated by methylxanthine ingestion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032534 Methylxanthines produce worsening Applied to a sign or symptom that is worsened by ingestion of food containing a methylxanthine compound (for instance, coffee, caffeine, chocolate). HP:0008857 Neonatal short-trunk short stature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008857 UMLS:C3149908 Short-trunk dwarfism identifiable at birth A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth. HP:0032537 Delayed fracture healing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032537 A delay in healing of a fracture past the expected duration. HP:0007526 Hypopigmented skin patches on arms biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007526 UMLS:C4024852 Hypopigmented skin patches on arms|Patchy loss of skin color on arms HP:0031205 Reduced lysosomal acid lipase activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031205 Reduced leukocyte acid lipase activity Reduction in the activity of lysosomal acid lipase (LAL) in the blood. Lysosomal lipase activity is measured. LAL hydrolyzes cholesteryl esters derived from cell internalization of plasma lipoproteins. HP:0007525 Yellow subcutaneous tissue covered by thin, scaly skin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007525 UMLS:C1850533 HP:0031206 Striatal T2 hyperintensity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031206 Abnormally bright T2 signal from the striatum on brain magnetic resonance imaging. HP:0032536 Increased number of lymph nodes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032536 An abnormally elevated number of lymph nodes in an anatomical region. HP:0008850 Severe postnatal growth retardation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008850 UMLS:C1857641 Severe growth delay in children|Marked growth retardation|Severe postnatal growth failure|Severe postnatal growth deficiency Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms. HP:0007522 Increased number of skin folds biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007522 UMLS:C4024853 Increased number of skin folds HP:0007521 Irregular hyperpigmentation of back biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007521 UMLS:C4024854 HP:0031210 Abnormal circulating hyaluronic acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031210 A deviation from the normal concentration of hyaluronic acid in the blood. HP:0032542 Exacerbated by pregnancy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032542 Applied to a sign or symptom that is worsened by being pregnant. HP:0032541 Knuckle pad biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032541 Knuckle pads on dorsal aspect of finger joints Knuckle pads are benign fibrofatty subcutaneous pads located over the proximal interphalangeal (PIP) joints that can be mistaken for arthritis. Rarely they affect the dorsal aspect of the metacarpophalangeal (MCP) joints. Clinically they are painless and often affect both hands in an asymmetrical pattern. HP:0031211 Elevated cholesterol ester level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031211 Increased cholesterol esters|Increased cholesteryl esters|Elevated cholesteryl ester level An elevated concentration of circulating cholesterol esters, which are fatty acid esters of cholesterol and make up about two-thirds of total plasma cholesterol. HP:0032544 Predominant small joint localization biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032544 Applies to an abnormality that mainly affects the small joints, including fingers, toes, interphalangeal, metacarpophalangeal, metatarsophalangeal, wrists, ankles, vertebrae, and neck. HP:0031212 Abnormal circulating progesterone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031212 HP:0032543 Lithoptysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032543 Expectoration (coughing up) of a broncholith. Broncholithiasis is defined as the presence of calculi in the tracheobronchial tree. It is a rare disease but can be characterized by clinical and radiological findings of a calcified lymph node eroding bronchial wall and opening into the bronchial lumen. HP:0031213 Elevated circulating 17-hydroxyprogesterone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031213 Elevated circulating 17-OHP An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase. HP:0032540 Joint flexor surface localization biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032540 Applies to an abnormality that is situated in flexor surface of the joint. The flexor surface refers to the skin that touches when a joint is bent (flexed). HP:0006207 Partial fusion of carpals biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006207 UMLS:C1844519 HP:0031218 Inappropriate antidiuretic hormone secretion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031218 SIADH|Syndrome of inappropriate antidiuretic hormone secretion|Inappropriate ADH secretion A state of increased circulating antidiuretic hormone despite hyponatremia and hypo-osmolality with normal or increased plasma volume. HP:0031219 Reduced radioactive iodine uptake biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031219 A decreased amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker. HP:0032549 Persistent asymmetrical tonic neck reflex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032549 Persistent fencer's reflex|Tonic neck reflex asymmetrical and persistent Persistence beyond the normal age (roughly the first half of the first year of life) of the asymmetric tonic neck reflex (ATNR), which is an easily elicited primitive reflex in the immediate newborn period. The ATNR refers to the phenomenon whereby when the face of an infant is turned to one side, the ipsilateral arm and leg extend and the contralateral arm and leg flex. This posture has been compared to a typical posture of fencers. HP:0006208 Metaphyseal cupping of proximal phalanges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006208 UMLS:C1834980 Metaphyseal cupping affecting the proximal phalanges. HP:0006209 Partial-complete absence of 5th phalanges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006209 UMLS:C1867928 Partial-complete absence of 5th digital bone HP:0008866 Failure to thrive secondary to recurrent infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008866 UMLS:C1832323 Weight faltering secondary to recurrent infections|Faltering weight secondary to recurrent infections Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections. HP:0031214 Decreased circulating dehydroepiandrosterone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031214 HP:0006203 Decreased movement range in interphalangeal joints biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006203 UMLS:C1836772 Decreased range of movement range in hinge joints HP:0032546 Abdominal guarding biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032546 A voluntary contraction of the abdominal wall musculature to avoid pain. HP:0007535 Hypopigmented streaks biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007535 UMLS:C1866244 HP:0032545 Abdominal rigidity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032545 Rigid abdomen Involuntary tightening of the abdominal musculature that occurs in response to touching the abdomen to avoid pain. Rigidity can occur in the presence of abdominal inflammation and usually involves only the inflamed area. HP:0031215 Decreased circulating dehydroepiandrosterone-sulfate level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031215 A reduced concentration of dehydroepiandrosterone-sulfate in the blood. HP:0007534 Congenital posterior occipital alopecia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007534 UMLS:C4024850 Loss of hair in the occipital region of the scalp with congenital onset. HP:0006205 Irregular phalanges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006205 UMLS:C4025081 Irregular finger bones Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance. HP:0007537 Severe photosensitivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007537 UMLS:C1849186 Severe sun sensitivity A severe degree of photosensitivity of the skin. HP:0032548 Increased placental thickness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032548 Placental thickness increased Abnormally elevated placental thickness. HP:0031216 Increased circulating progesterone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031216 An elevated concentration of progesterone in the blood. HP:0032547 Low intraocular pressure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032547 Ocular hypotony An abnormal decrease of the pressure within the eye. HP:0006206 Hypersegmentation of proximal phalanx of second finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006206 UMLS:C4025080 Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger. HP:0031217 Hot flashes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031217 Sudden feelings of warmth that are generally most pronounced over the face, neck and chest. HP:0007536 Aplasia cutis congenita of midline scalp vertex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007536 UMLS:C4024849 HP:0007530 Punctate palmoplantar hyperkeratosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007530 UMLS:C4024851 HP:0006200 Widened distal phalanges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006200 UMLS:C1862421 Widened outermost bone of limb HP:0006201 Hypermobility of distal interphalangeal joints biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006201 UMLS:C1851811 Increased mobility of outermost hinge joint HP:0006202 Osteolysis of scaphoids biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006202 UMLS:C4025082 HP:0007590 Aplasia cutis congenita over posterior parietal area biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007590 UMLS:C1863495 HP:0007589 Aplasia cutis congenita on trunk or limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007589 UMLS:C1863496 A developmental defect resulting in the congenital absence of skin on the trunk or the limbs. HP:0007586 Telangiectases producing 'marbled' skin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007586 UMLS:C4024839 HP:0006254 Elevated alpha-fetoprotein biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006254 UMLS:C0235971|UMLS:C0476489 Increased levels of alpha fetoprotein|Alpha fetoprotein abnormal|Increased serum alpha-fetoprotein|Serum alpha-fetoprotein increased An increased concentration of alpha-fetoprotein. HP:0007585 Skin fragility with non-scarring blistering biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007585 UMLS:C1851562 HP:0007588 Reticular hyperpigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007588 UMLS:C1851972 Reticulate hyperpigmentation Increased pigmentation of the skin with a netlike (reticular) pattern. HP:0006256 Abnormality of hand joint mobility biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006256 UMLS:C4025076 Abnormality of hand joint mobility HP:0007587 Numerous pigmented freckles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007587 UMLS:C1968565 Numerous pigmented freckles HP:0006257 Abnormality of carpal bone ossification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006257 UMLS:C4025075 Abnormal ankle bone maturation HP:0007581 Mediosternal, longitudinal streak of hypopigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007581 UMLS:C4024840 HP:0006251 Limited wrist extension biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006251 UMLS:C1862481 HP:0006252 Interphalangeal joint erosions biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006252 UMLS:C1850158 HP:0007583 Telangiectasia macularis eruptiva perstans biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007583 UMLS:C0263402|SNOMEDCT_US:8214000 HP:0006253 Swelling of proximal interphalangeal joints biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006253 UMLS:C1860841 Swelling of innermost hinge joints HP:0006270 Hypoplastic spleen biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006270 UMLS:C1970617 Underdeveloped spleen Underdevelopment of the spleen. HP:0006265 Aplasia/Hypoplasia of fingers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006265 UMLS:C4025071 Absent/small fingers|Absent/underdeveloped fingers Small/hypoplastic or absent/aplastic fingers. HP:0007597 Congenital palmoplantar keratodermia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007597 UMLS:C4024837 HP:0006266 Small placenta biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006266 SNOMEDCT_US:289264006|UMLS:C0566694 Small placenta Reduced size of the placenta. HP:0007596 Painful subcutaneous lipomas biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007596 UMLS:C4024838 Painful noncancerous fat tissue tumor under the skin The presence of multiple subcutaneous lipoma that cause pain. HP:0007599 Generalized reticulate brown pigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007599 UMLS:C4024836 Generalised reticulate brown pigmentation HP:0006267 Large placenta biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006267 UMLS:C0566693|SNOMEDCT_US:289263000 Placental enlargement|Large placenta Increased size of the placenta. HP:0007598 Bilateral single transverse palmar creases biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007598 UMLS:C1862095 The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands. HP:0006268 Fluctuating splenomegaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006268 UMLS:C1835882 Intermittently increased size of the spleen. HP:0006261 Abnormal phalangeal joint morphology of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006261 UMLS:C4021604 Abnormality of the small joints of the hand|Abnormality of phalangeal joints of the hand HP:0006262 Aplasia/Hypoplasia of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006262 UMLS:C4025074 Absent/underdeveloped little finger|Absent/small pinky finger|Absent/underdeveloped pinkie finger|Absent/small pinkie finger|Absent/underdeveloped pinky finger|Absent/small little finger A small/hypoplastic or absent/aplastic 5th finger. HP:0007592 Aplasia/Hypoplastia of the eccrine sweat glands biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007592 UMLS:C1844618 Hypoplastic-absent eccrine sweat glands Absence or developmental hypoplasia of the eccrine sweat glands. HP:0006263 Abnormality of the epiphyses of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006263 UMLS:C4025073 Abnormality of the end part of the index finger bone Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 2nd finger. HP:0007595 Redundant skin in infancy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007595 UMLS:C1835587 Excess skin in infancy HP:0006264 Aplasia/Hypoplasia of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006264 UMLS:C4025072 Absent/small index finger|Absent/underdeveloped index finger A small/hypoplastic or absent/aplastic 2nd finger. HP:0006236 Slender metacarpals biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006236 UMLS:C4025077 Slender long bones of hand Decreased width of the metacarpal bones (that is, reduced diameter). HP:0006237 Prominent interphalangeal joints biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006237 UMLS:C1859115 Prominent hinge joints HP:0006239 Shortening of all middle phalanges of the toes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006239 UMLS:C4021605 Brachymesophalangy of feet|Shortening of all the middle bones of the toes Abnormal shortening of all middle phalanges of toes. HP:0007569 Generalized seborrheic dermatitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007569 UMLS:C4024844 Generalized seborrheic eczema|Generalised seborrheic dermatitis Seborrheic dermatitis that is not localized to any one particular region. HP:0006232 Expanded metacarpals with widened medullary cavities biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006232 UMLS:C1969288 HP:0006233 Osteoarthritis of the distal interphalangeal joint biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006233 SNOMEDCT_US:239869009|UMLS:C0409957 HP:0006234 Osteolysis involving tarsal bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006234 UMLS:C1833735 Tarsal osteolysis|Tarsal bone osteolysis An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones. HP:0007566 Index finger dermatoglyphic radial loop biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007566 UMLS:C4024845 HP:0008897 Postnatal growth retardation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008897 UMLS:C1859778 Postnatal growth failure|Growth delay as children|Postnatal growth deceleration|Growth retardation as children|Postnatal growth deficiency Slow or limited growth after birth. HP:0007565 Multiple cafe-au-lait spots biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007565 MSH:C537421|UMLS:C1861975 Multiple birthmarks|Multiple flat light-brown marks on skin The presence of six or more cafe-au-lait spots. HP:0007560 Unusual dermatoglyphics biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007560 UMLS:C4024846 HP:0008890 Severe short-limb dwarfism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008890 UMLS:C1860105 HP:0006230 Unilateral oligodactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006230 UMLS:C3805861 HP:0007561 Telangiectases in sun-exposed and nonexposed skin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007561 UMLS:C1868184 HP:0032500 Exacerbated by tobacco use biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032500 Aggravated by tobacco use|Smoking or tobacco use exacerbates symptoms|Exacerbated by smoking Applied to a sign or symptom that is worsened by smoking tobacco products. HP:0032506 Alien limb phenomenon biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032506 Alien limb phenomenon refers to involuntary motor activity of a limb in conjunction with the feeling of estrangement from that limb. HP:0032505 Hydrophobia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032505 Pharyngeal spasms provoked by an attempt to drink. HP:0032508 Polyembolokoilamania biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032508 Habitual insertion of foreign bodies into bodily orifices. HP:0032507 Labiomental fasciculations biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032507 Fasciculations, labiomental Fasciculations affecting the tongue muscle and the musculature of the chin. HP:0032502 Exacerbated by barbiturate medication biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032502 Barbiturates produce worsening Applied to a sign or symptom that is worsened by taking barbituates. HP:0006247 Enlarged interphalangeal joints biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006247 UMLS:C1859701 Enlarged hinge joints HP:0006248 Limited wrist movement biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0006248 UMLS:C1840088 Limited movement of the wrist|Limited wrist movement An abnormal limitation of the mobility of the wrist. HP:0032501 Exacerbated by contraceptive medication biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032501 Contraceptive pills aggravate symptoms Applied to a sign or symptom that is worsened by taking contraceptive medication. HP:0032504 Lhermitte's sign biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032504 Lhermitte's phenomenon|Barber chair phenomenon An electric shock-like sensation that occurs on flexion of the neck. This sensation radiates down the spine, often into the legs, arms, and sometimes to the trunk. HP:0032503 Ameliorated by ethanol ingestion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032503 Ethanol reduces manifestations Applies to a sign or symptom that is improved or made more bearable by drinking alcohol (ethanol). HP:0006243 Phalangeal dislocation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006243 UMLS:C2673396 HP:0007574 Generalized bronze hyperpigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007574 UMLS:C4024842|UMLS:C2939074 Generalised bronze hyperpigmentation|Bronze skin HP:0007576 Palmar neurofibromas biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007576 UMLS:C4024841 HP:0007570 Hyperkeratosis lenticularis perstans biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007570 UMLS:C0263420|SNOMEDCT_US:28488007|MSH:C538377 Flegel disease Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a keratinization abnormality characterized by small, asymptomatic erythematous papules that leave characteristic punctate bleeding when they become detached. The lesions generally occur symmetrically along the top of the foot and on the legs, appearing more rarely on the arms, forearms, palms, and soles, and even on the oral mucosa. HP:0032509 Onychotillomania biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032509 Onychotillomania is characterized by the compulsive or irresistible urge in patients to pick at, pull off, or harmfully bite or chew their nails. HP:0007573 Late onset atopic dermatitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007573 UMLS:C4024843|UMLS:C4280439 Late onset baby eczema A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis. HP:0007572 Hyperpigmented streaks biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007572 UMLS:C1866245 HP:0008808 High iliac wings biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008808 UMLS:C1969680 Narrow, high iliac wings Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally). HP:0008807 Acetabular dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008807 UMLS:C1328407|MSH:D006617 Dysplastic acetabulae The presence of developmental dysplasia of the acetabular part of hip bone. HP:0008804 Broad femoral head biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008804 UMLS:C4024619 Wide head of thigh bone Increased width of the femoral head. HP:0008803 obsolete Narrow sacroiliac notch biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008803 HP:0008800 Limited hip movement biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008800 UMLS:C1851542 Limited hip movement A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip. HP:0008802 Hypoplasia of the femoral head biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008802 UMLS:C1856920 Hypoplastic femoral head|Small head of thigh bone|Small femoral heads Underdevelopment of the femoral head. HP:0008801 Hypoplasia of the lesser trochanter biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008801 UMLS:C1840062 Lesser trochanter hypoplasia Underdevelopment of the lesser trochanter. HP:0007509 Patchy hypo- and hyperpigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007509 UMLS:C4021573 Patchy hypo- and hyper-pigmentation HP:0007506 Congenital absence of skin of limbs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007506 UMLS:C4024858 Missing skin on limbs since birth HP:0007505 Progressive hyperpigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007505 UMLS:C4024859 HP:0008839 Hypoplastic pelvis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0008839 UMLS:C3536734 Hypoplastic pelvic bones|Small pelvis Underdevelopment of the bony pelvis. HP:0007508 Punctate palmar hyperkeratosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007508 UMLS:C4024857 Tiny bumps of thickened skin (hyperkeratosis) on the palms of the hands. HP:0008838 Stippled calcification proximal humeral epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008838 UMLS:C1857243 Speckled calcifications in end part of innermost long bone of upper arm HP:0007502 Follicular hyperkeratosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0007502 UMLS:C0334013|SNOMEDCT_US:402341008|SNOMEDCT_US:238629004|SNOMEDCT_US:81845009 Hyperkeratosis follicularis A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum. HP:0008833 Irregular acetabular roof biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008833 UMLS:C1834975 HP:0007501 Streaks of hyperkeratosis along each finger onto the palm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007501 UMLS:C4024861 HP:0008835 Multicentric femoral head ossification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008835 UMLS:C1846447 There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers. HP:0007504 Diffuse slow skin atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007504 UMLS:C4024860 HP:0007503 Generalized ichthyosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007503 UMLS:C3552528 Generalised ichthyosis HP:0007500 Decreased number of sweat glands biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007500 UMLS:C4021574 Decreased sweat glands|Decreased sweat pores The presence of fewer than normal sweat glands. HP:0008830 Hypoplastic pubic rami biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008830 UMLS:C1969176 HP:0007517 Palmoplantar cutis laxa biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007517 UMLS:C1856714 Excessive wrinkled skin of palms and soles|Furrowed palms and soles|Wrinkled skin of hands and feet|Increased wrinkles of palms and soles|Wrinkled palms and soles Loose, wrinkled skin of hands and feet. HP:0008848 Moderately short stature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008848 UMLS:C1861519 Short stature, moderate|Moderate short stature A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex. HP:0007516 Redundant skin on fingers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007516 UMLS:C4024856 Extra skin on fingers Loose and sagging skin of the fingers. HP:0007519 obsolete Lack of subcutaneous fatty tissue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007519 HP:0007513 Generalized hypopigmentation biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0007513 UMLS:C1849923 Pale pigmentation|Generalised hypopigmentation|Fair skin HP:0008843 Hip osteoarthritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008843 SNOMEDCT_US:239872002|MSH:D015207|UMLS:C0029410 Osteoarthritis of hip HP:0007515 Hypoplastic pilosebaceous units biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007515 UMLS:C1832454 HP:0008846 Severe intrauterine growth retardation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008846 UMLS:C1855843 Severe prenatal growth deficiency|Intrauterine growth retardation, severe Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age. HP:0007514 Edema of the dorsum of hands biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007514 SNOMEDCT_US:443710002|UMLS:C2732374|UMLS:C2751873|MEDDRA:10058204 Oedema of the dorsum of hands|Edema of dorsum of hands An abnormal accumulation of fluid beneath the skin on the back of the hands. HP:0008845 Mesomelic short stature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008845 UMLS:C1855274 Short stature, mesomelic|Dwarfism, short limb mesomelic|Mesomelic dwarfism|Short stature, disproportionate mesomelic A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg). HP:0007511 Mottled pigmentation of photoexposed areas biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007511 UMLS:C3151964 HP:0007510 Focal dermal aplasia/hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007510 UMLS:C1834069 HP:0008819 Narrow femoral neck biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008819 UMLS:C1863739 Narrow neck of thigh bone|Narrow femoral necks An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). HP:0008818 Large iliac wings biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008818 UMLS:C4024618 Increased size of the ilium ala. HP:0008817 Aplastic pubic bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008817 UMLS:C1848660 Absent pubic bones HP:0008812 Flattened femoral head biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008812 UMLS:C1860601 Flattened femoral heads|Flat head of thigh bone An abnormally flattened femoral head. HP:0008829 Delayed femoral head ossification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008829 UMLS:C1846446|UMLS:C4280410 Delayed maturation of the head of the thigh bone Delayed ossification of the femoral head. HP:0008826 Dislocation of the femoral head biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008826 UMLS:C1859446 Dislocated head of thigh bone|Dislocated femoral heads Joint dislocation of the femoral head. HP:0008828 Delayed proximal femoral epiphyseal ossification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008828 UMLS:C1855222 Delayed ossification proximal femoral epiphyses|Delayed ossification of the proximal femoral epiphysis Developmental delay of ossification of the proximal epiphysis of the femur. HP:0008822 Hypoplastic ischiopubic rami biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008822 UMLS:C4024617 Underdevelopment of the ischiopubic ramus, which is comprised of the inferior pubic ramus and the inferior ramus of the ischium. HP:0008821 Hypoplastic inferior ilia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008821 UMLS:C1837078 HP:0008824 Hypoplastic iliac body biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008824 UMLS:C1849034 Small iliac bodies|Hypoplastic iliac bodies Underdevelopment of the body of ilium. HP:0008823 Hypoplastic inferior pubic rami biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008823 UMLS:C1853573 HP:0008820 Absent ossification of capital femoral epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0008820 UMLS:C1968686 Absent ossification of femoral capital epiphyses Lack of ossification of the proximal epiphysis of the femur. HP:0031180 Erythema migrans biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031180 Erythema chronicum migrans An expanding erythematous (red) skin lesion, usually round or oval, by definition at least 5 cm in size (in largest diameter). HP:0031181 Necrolytic migratory erythema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031181 Acral or periorificial lesions that evolve in recurrent crops, with an annular and migratory distribution. HP:0031188 Genital edema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031188 Genital oedema A buildup of fluid that causes swelling in the soft tissues of the genital area. HP:0031189 Wrist drop biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031189 A condition in which the affected individual cannot extend the wrist, which hangs flaccidly. HP:0031185 Increased NT-proBNP level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031185 An elevated level of circulating N-terminal part of the prohormone of B-type natriuretic peptide (BNP). HP:0031186 Abnormal circulating deoxycorticosterone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031186 An abnormality of the concentration of deoxycorticosterone in the blood. Deoxycorticosterone comprises 11-deoxycorticosterone and 21-deoxycorticosterone. HP:0031187 Abnormality of circulating pregnenolone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031187 An abnormality of the concentration of pregnenolone in the blood. HP:0031191 Deep dermal perivascular inflammatory infiltrate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031191 Deep perivascular inflammatory infiltrate Numerous lymphocytes surrounding blood vessels in the deep part of the dermis. HP:0031192 Abnormal morphology of left ventricular trabeculae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031192 Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae). HP:0031193 Abnormal morphology of right ventricular trabeculae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031193 Any structural anomaly of the muscular columns which project from the inner surface of the right ventricle of the heart (cardiac trabeculae, trabeculae carneae). HP:0031194 Increased density of left ventricular trabeculae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031194 An increased density (number and tightness) of the muscular columns which project from the inner surface of the left ventricles of the heart (cardiac trabeculae, trabeculae carneae). HP:0031190 Superficial dermal perivascular inflammatory infiltrate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031190 Superficial perivascular inflammatory infiltrate Numerous lymphocytes surrounding blood vessels in the superfical part of the dermis. HP:0031199 Acellular urinary casts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031199 Acellular casts A type of urinary cast composed of a proteinaceous matrix without a substantial number of cells. HP:0031195 Apical hypertrabeculation of the left ventricle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031195 An increased number and density of the trabeculae in the apex (tip) of the left ventricle. HP:0031196 Thin myocardium compact layer biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031196 Reduced thickness of the outer, dense layer of the myocardium. HP:0031197 Cellular urinary casts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031197 Cellular casts A type of urinary cast composed of cells incorporated in a protein matrix. The cells can be those found in the urinary sediment (erythrocytes, leuklocytes, renal tubular epithelial cells). HP:0031198 Renal tubular epithelial cell casts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031198 A type of cellular urinary cast composed of renal tubular epithelial cells. HP:0100006 Neoplasm of the central nervous system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100006 SNOMEDCT_US:126951006|NCIT:C3262|MSH:D016543|UMLS:C0085136 Tumors of the central nervous system|Neoplasia of the central nervous system|Neoplasm of the CNS A neoplasm of the central nervous system. HP:0500152 Hypocystinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500152 Low blood cystine levels|Decreased blood cystine concentration A decreased amount of cystine in the blood. HP:0500153 Hyperargininemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500153 Increased blood arginine concentration|High blood arginine levels An increased amount of arginine levels in the blood. HP:0100007 Neoplasm of the peripheral nervous system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100007 NCIT:C3262|SNOMEDCT_US:126980002|MSH:D010524|UMLS:C0031118 Tumor of the peripheral nervous system A benign or malignant neoplasm (tumour) of the peripheral nervous system. HP:0500150 Hypoglutamatemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500150 Low blood glutamate levels|Decreased blood glutamate concentrations A decreased amount of glutamate in the blood. HP:0100004 Pericardial mesothelioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100004 NCIT:C3234|UMLS:C1335381 A Malignant mesothelioma originating from cells of the pericardium (the thin layer of mesothelium lining the heart). HP:0500151 Hypercystinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500151 High blood cystine levels|Increased blood cystine concentraions An increased amount of cystine in the blood. HP:0100005 Testicular mesothelioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100005 UMLS:C4022391|NCIT:C3234 A Malignant mesothelioma of the testis. HP:0500156 Hyperasparaginemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500156 Increased blood asparagine concentration|High blood asaparagine levels An increased amount of asparagine in the blood. HP:0100002 Pleural mesothelioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100002 SNOMEDCT_US:254645002|UMLS:C0812413|NCIT:C3234 A malignant mesothelioma originating from cells of the pleura (the thin layer of mesothelium lining the lungs). Pleural mesothelioma is the most common form of mesothelioma. HP:0500157 Hypoasparaginemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500157 Low blood asparagine levels|Decreased blood asparagine concentration A decreased amount of asparagine in the blood. HP:0100003 Peritoneal mesothelioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100003 SNOMEDCT_US:109853004|NCIT:C3234|UMLS:C0346109 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. HP:0500154 Hypoalaninemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500154 Low blood alanine levels|Decreased blood alanine concentration A decreased amount of alanine in the blood. HP:0100000 Early onset of sexual maturation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100000 UMLS:C4022392 Early onset of sexual maturation An early onset of puberty, in this case early does not refer to precocious. HP:0100001 Malignant mesothelioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100001 UMLS:C0345967|SNOMEDCT_US:62064005|MSH:C562839 Malignant mesothelioma is a form of cancer that originates from the cells of the mesothelium, a thin tissue layer surrounding the body's internal organs. Malignant mesothelioma is almost exclusively caused by asbestos exposure, pleural mesothelioma beeing the most common form, affecting the lining of the lungs called the pleura. Other forms such as perioneal-, percardial- or testicular- mesothelioma are much rarer. HP:0500155 Abnormal circulating asparagine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500155 Abnormality of asparagine metabolism Any deviation from the normal concentration of asparagine in the blood circulation. HP:0500158 Abnormal circulating aspartic acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500158 Abnormal circulating aspartate concentration Any deviation from the normal concentration of aspartate in the blood circulation. HP:0500159 Increased level of circulating aspartic acid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500159 Increased blood aspartic acid|High blood aspartic acid levels An increased amount of aspartic acid in the blood. HP:0041181 Fractured distal phalanx of pedal digit 3 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041181 bone distal phalanx of pedal digit 3 A partial or complete breakage of the distal phalanx of pedal digit 3. HP:0041182 Fractured middle phalanx of manual digit 2 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041182 bone middle phalanx of manual digit 2 A partial or complete breakage of the middle phalanx of manual digit 2. HP:0041180 Fractured distal phalanx of pedal digit 1 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041180 bone distal phalanx of pedal digit 1 A partial or complete breakage of the distal phalanx of pedal digit 1. HP:0041185 Fractured middle phalanx of manual digit 5 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041185 bone middle phalanx of manual digit 5 A partial or complete breakage of the middle phalanx of manual digit 5. HP:0041186 Fractured middle phalanx of pedal digit 3 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041186 bone middle phalanx of pedal digit 3 A partial or complete breakage of the middle phalanx of pedal digit 3. HP:0041183 Fractured middle phalanx of manual digit 3 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041183 bone middle phalanx of manual digit 3 A partial or complete breakage of the middle phalanx of manual digit 3. HP:0041184 Fractured middle phalanx of manual digit 4 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041184 bone middle phalanx of manual digit 4 A partial or complete breakage of the middle phalanx of manual digit 4. HP:0041189 Fractured epiphysis of femur biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041189 bone epiphysis of femur A partial or complete breakage of the epiphysis of femur. HP:0500160 Abnormal circulating carnosine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500160 Abnormality of carnosine metabolism Any deviation from the normal concentration of carnosine in the blood circulation. HP:0100008 Schwannoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100008 MSH:D009442|SNOMEDCT_US:985004|UMLS:C0027809|SNOMEDCT_US:404022001 Neurinoma|Schwannomas|Neurilemmoma|Schwann cell tumour|Neurolemmoma|Schwann cell tumor A benign nerve sheath tumor composed of Schwann cells. HP:0041187 Fractured proximal phalanx of pedal digit 1 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041187 bone proximal phalanx of pedal digit 1 A partial or complete breakage of the proximal phalanx of pedal digit 1. HP:0041188 Fractured proximal phalanx of manual digit 1 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041188 bone proximal phalanx of manual digit 1 A partial or complete breakage of the proximal phalanx of manual digit 1. HP:0100009 Intracranial meningioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100009 SNOMEDCT_US:302820008|MSH:D008579|UMLS:C0349604 HP:0500141 Hypophenylalaninemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500141 Low blood phenylalanine|Decreased blood phenylalanine A decreased amount of phenylalanine in the blood. HP:0100017 Capsular cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100017 SNOMEDCT_US:204125003|UMLS:C0339352 A cataract that affects the capsule of the lens. HP:0500142 Hypolysinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500142 Decreased blood lysine|Low blood lysine levels A decreased amount of lysine in the blood. HP:0100018 Nuclear cataract biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0100018 UMLS:C0392557|SNOMEDCT_US:53889007 Yellowish cloudy center of lens 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. HP:0100015 Stahl ear biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100015 UMLS:C1862689|SNOMEDCT_US:253252004 Additional crus|Third crus The presence of a supernumerary, i.e. third, crus of the helix in the helix, arising at or above the normal bifurcation of the antihelix. HP:0500140 Decreased circulating hydroxyproline concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500140 Low level of hydroxyproline in the blood|Decreased hydroxyproline in the blood A decreased amount of hydroxyproline in the blood. HP:0100016 Abnormality of mesentery morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100016 UMLS:C4022389 Abnormality of the mesentery 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). HP:0500145 Hypohistidinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500145 Low blood histidine levels|Decreased blood histidine concentration A decreased amount of histidine in the blood. HP:0100013 Neoplasm of the breast biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100013 NCIT:C3262|MSH:D001943|SNOMEDCT_US:126926005|UMLS:C1458155 Tumours of the breast|Neoplasia of the breast|Breast tumor A tumor (abnormal growth of tissue) of the breast. HP:0100014 Epiretinal membrane biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100014 SNOMEDCT_US:367649002|MSH:D019773|UMLS:C0339543|SNOMEDCT_US:133853005 Macular pucker|Epiretinal membranes|Premacular fibrosis An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy. HP:0100011 Scleral schwannoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100011 NCIT:C3269|UMLS:C4022390 HP:0500143 Hypoleucinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500143 Decreased blood concentration of leucine|Low blood leucine levels Decreased amount of leucine in the blood. HP:0100012 Neoplasm of the eye biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100012 NCIT:C3262|UMLS:C0015414|SNOMEDCT_US:371486001|MSH:D005134 Neoplasia of the eye|Eye tumor A tumor (abnormal growth of tissue) of the eye. HP:0500144 Hypoisoleucinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500144 Low blood isoleucine levels|Decreased blood isoleucine concentration A decreased amount of isoleucine in the blood. HP:0500149 Hyperglutamatemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500149 High blood glutamate levels|Increased blood glutamate concentration An increased amount of glutamate in the blood. HP:0100010 Spinal meningioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100010 MSH:D008579|SNOMEDCT_US:189167009|UMLS:C0347515|NCIT:C3230 HP:0500147 Hypoglutaminemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500147 Low blood glutamine level|Decreased blood glutamine concentration Decreased amount of glutamine in the blood. HP:0500148 Abnormal circulating glutamate concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500148 Abnormality of glutamate metabolism Any deviation from the normal concentration of glutamate in the blood circulation. HP:0041192 Fractured epiphysis of fourth metacarpal bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041192 bone epiphysis of fourth metacarpal bone A partial or complete breakage of the epiphysis of fourth metacarpal bone. HP:0041193 Fractured epiphysis of first metatarsal bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041193 bone epiphysis of first metatarsal bone A partial or complete breakage of the epiphysis of first metatarsal bone. HP:0041190 Fractured epiphysis of second metacarpal bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041190 bone epiphysis of second metacarpal bone A partial or complete breakage of the epiphysis of second metacarpal bone. HP:0041191 Fractured epiphysis of third metacarpal bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041191 bone epiphysis of third metacarpal bone A partial or complete breakage of the epiphysis of third metacarpal bone. HP:0041196 Fractured distal epiphysis of radius biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041196 bone distal epiphysis of radius A partial or complete breakage of the distal epiphysis of radius. HP:0041197 Fractured proximal epiphysis of first metacarpal bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041197 bone proximal epiphysis of first metacarpal bone A partial or complete breakage of the proximal epiphysis of first metacarpal bone. HP:0041194 Fractured epiphysis of second metatarsal bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041194 bone epiphysis of second metatarsal bone A partial or complete breakage of the epiphysis of second metatarsal bone. HP:0041195 Fractured epiphysis of third metatarsal bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041195 bone epiphysis of third metatarsal bone A partial or complete breakage of the epiphysis of third metatarsal bone. HP:0041198 Fractured proximal epiphysis of middle phalanx of manual digit 3 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041198 bone 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. HP:0100019 Cortical cataract biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0100019 SNOMEDCT_US:193576003|UMLS:C0271160 A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance. HP:0041199 Fractured interphalangeal joint biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041199 bone interphalangeal joint A partial or complete breakage of the interphalangeal joint. HP:0100028 Ectopic thyroid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100028 MSH:D050033|SNOMEDCT_US:214660000|UMLS:C0266283 Heteropic thyroid gland|Aberrant thyroid gland|Ectopic thyroid gland|Aberrant thyroid|Abnormal thryoid location Mislocalised thyroid gland. HP:0100029 Lingual thyroid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100029 SNOMEDCT_US:129123002|SNOMEDCT_US:21279007|UMLS:C0266284|MSH:D046151 An aberrant thyroid gland or Ectopic thyroid located at the base of the tongue, just posterior to the foramen cecum as a result of a failure of the thyroid to descend. HP:0100026 Arteriovenous malformation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100026 SNOMEDCT_US:234141001|MSH:D001165|UMLS:C0003857|SNOMEDCT_US:24551003 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries. HP:0100027 Recurrent pancreatitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100027 SNOMEDCT_US:235494005|SNOMEDCT_US:233870001|SNOMEDCT_US:234689009|MSH:D050500|UMLS:C0149521 Recurring pancreas inflammation|Recurring pancreatitis A recurrent form of pancreatitis. HP:0100024 Conspicuously happy disposition biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100024 UMLS:C4021029 Happy aspect|Conspicious happy aspect An unusually happy aspect over time which can also may be observed during inappropriate situations that should be causing for example distress, fear or anger. HP:0500134 Hypertryptophanemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500134 High blood tryptophan concentration|Increased tryptophan in blood An increased amount of tryptophan in the blood. HP:0500135 Hypotryptophanemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500135 Decreased tryptophan in blood|Low blood tryptophan concentration A decreased amount of tryptophan in the blood. HP:0100025 Overfriendliness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100025 UMLS:C4022386 Overfriendliness A form of hypersociability that presents as mostly inappropriate people-orientation and friendliness towards others on an inadequate level which might go as far as being dangerous considering for example young children following strangers without restriction. HP:0100022 Abnormality of movement biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100022 MSH:D009069|UMLS:C0026650|SNOMEDCT_US:60342002 Unusual movement|Abnormality of movement|Movement disorder An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. HP:0500132 Hypovalinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500132 Low blood valine concentration A decreased amount of valine in the blood. HP:0100023 Recurrent hand flapping biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100023 UMLS:C4022387 A type of stereotypic behavior in which the affected individual repeatedly waves the hands up and down. HP:0500133 Hypotyrosinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500133 Low blood tyrosine concentration|Decreased tyrosine in blood An decreased concentration of tyrosine in the blood. HP:0100020 Posterior capsular cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100020 UMLS:C4022388 A cataract which is found in the back outer layer of the lens. This type often develops more rapidly. HP:0500138 Hyperserinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500138 Elevated circulating serine levels|High blood serine levels|Increased serine blood concentration An increased amount of serine in the blood. HP:0100021 Cerebral palsy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100021 MSH:D002547|UMLS:C0007789|SNOMEDCT_US:128188000 CP|Cerebral paralysis Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems. HP:0500139 Hypoprolinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500139 Decreased blood proline levels|Low blood proline concentration A decreased amount of proline in the blood. HP:0500136 Hypothreoninemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500136 Decreased circulating threonine levels|Low blood threonine concentration|Decreased threonine blood levels A decreased amount of threonine in the blood. HP:0100039 Thickened cortex of bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100039 UMLS:C4022382 An Abnormality of cortical bone leading to an abnormal thickness of the cortex of affected bones. HP:0100037 Abnormality of the scalp hair biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100037 UMLS:C4022384 Abnormality of the scalp hair An abnormality of the hair of head. HP:0100038 Slow-growing scalp hair biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100038 UMLS:C4022383 Slow-growing scalp hair Scalp hair whose growth is slower than normal. HP:0100035 Phonic tics biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100035 MSH:D020323|UMLS:C0751901 Verbal tics|Vocal tics Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound. HP:0100036 Pseudo-fractures biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100036 UMLS:C4021028 Looser zones A band of bone material of decreased density forming alongside the surface of the cortical bone with thickening of the periosteum. Callus formation in the affected area is common and gives the appearance of a false fracture. HP:0100033 Tics biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100033 UMLS:C2169806 Tic disorder|Tics Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppresable and are usually associated with awareness of an urge to perform the movement. HP:0100034 Motor tics biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100034 MSH:D020323|UMLS:C0751900 Movement-based tics affecting discrete muscle groups. HP:0100031 Neoplasm of the thyroid gland biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100031 SNOMEDCT_US:127018007|UMLS:C0040136|NCIT:C3262|MSH:D013964 Neoplasia of the thyroid gland A tumor (abnormal growth of tissue) of the thyroid gland. HP:0100030 Accessory ectopic thyroid tissue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100030 UMLS:C4022385 Accessory ectopic thyroid tissue arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract. HP:0041149 Fractured navicular bone of pes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041149 bone navicular bone of pes A partial or complete breakage of the navicular bone of pes. HP:0041147 Fractured epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041147 bone epiphysis A partial or complete breakage of the epiphysis. HP:0100048 Fragmentation of the epiphyses of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100048 UMLS:C4022373 Fragmentation of the end part of the 2nd toe bone HP:0100049 Irregular epiphyses of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100049 UMLS:C4022372 Irregular end part of the 2nd toe bone HP:0030490 Exudative vitreoretinopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030490 UMLS:C4072980 HP:0100046 Cone-shaped epiphyses of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100046 UMLS:C4022375 Cone-shaped end part of the 2nd toe bone HP:0500112 Positive urine amphetamine test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500112 Detection of amphetamine or its metabolites in urine. HP:0100047 Enlarged epiphyses of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100047 UMLS:C4022374 Enlarged end part of the 2nd toe bone HP:0500113 Positive urine opioid test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500113 Detection of opioids or opioid metabolites in urine. HP:0100044 Absent epiphyses of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100044 UMLS:C4022377 Absent end part of the 2nd toe bone HP:0500110 Positive urine cannabinoid test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500110 Positive urine marijuana test|Postive urine pot test Detection of delta-9-tetrahydrocannabinol (THC) or other cannabinoid metabolites in urine. HP:0100045 Bracket epiphyses of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100045 UMLS:C4022376 Bracket shaped end part of 2nd toe bone HP:0500111 Positive urine benzodiazepines test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500111 Detection of benzodiazepine metabolites, primarily nordiazepam, oxazepam, and temazepam, in urine. HP:0500116 Positive blood barbiturate test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500116 Detection of barbiturate metabolites such as Phenobarbital in blood. HP:0030495 Abnormality morphology of the macular vasculature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030495 UMLS:C4072983 Abnormality of macular vasculature Any structural anomaly of the blood vessels of the macula. HP:0100042 Broad 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100042 UMLS:C4022379 Broad 4th toe|Wide 4th toe A broad appearance of the fourth toe. HP:0100043 Broad 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100043 UMLS:C4022378 Broad pinky toe|Broad little toe|Broad pinkie toe|Broad 5th toe A broad appearance of the fifth toe. HP:0500117 Abnormal CSF urate concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500117 Abnormal concentration of urate in the cerebrospinal fluid (CSF). HP:0030496 Macular exudate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030496 UMLS:C4072984 Macular exudation|Macular exudates Yellow-white intraretinal deposits in the macula typically associated with damaged outer blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature. HP:0100040 Broad 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100040 UMLS:C4022381 Wide 2nd toe A broad appearance of the second toe. HP:0500114 Abnormal stool urobilinogen concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500114 Abnormal concentration of urobilinogen present in the stool. HP:0030497 Macular cotton wool spot biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030497 UMLS:C4072985 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. HP:0100041 Broad 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100041 UMLS:C4022380 Wide 3rd toe|Broad 3rd toe A broad appearance of the third toe. HP:0500115 Increased stool urobilinogen concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500115 An increased amount of urobilinogen present in the stool. HP:0030498 Macular thickening biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030498 UMLS:C4072986 Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging. HP:0030491 Choriocapillaris atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030491 UMLS:C3275758 Atrophy of the capillary lamina of choroid. HP:0030493 Abnormality of foveal pigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030493 UMLS:C4072981 An anomaly of the pigmentation in the fovea centralis. HP:0030494 Macular microaneurysm/hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030494 UMLS:C4072982 Small, red dots in the superficial retinal layers (it is difficult to distinguish between small hemorrhages and microaneurysms). HP:0030499 Macular drusen biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030499 SNOMEDCT_US:247154004|UMLS:C0677628 Lipid accumulation in macula Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. This class refers to the presence of Drusen in the macula. HP:0041145 Fractured acetabular part of hip bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041145 bone acetabular part of hip bone A partial or complete breakage of the acetabular part of hip bone. HP:0041146 Fractured coccyx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041146 bone coccyx A partial or complete breakage of the coccyx. HP:0041143 Fractured tibia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041143 Tibial fracture|Fracture of the tibia|Broken tibia|bone tibia A partial or complete breakage of the tibia. HP:0041144 Fractured clavicle bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041144 bone clavicle bone A partial or complete breakage of the clavicle bone. HP:0100059 Fragmentation of the epiphyses of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100059 UMLS:C4022362 Fragmentation of the end part of the 3rd toe bone HP:0041158 obsolete Fractured trunk biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041158 HP:0041159 Fractured rib biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041159 bone rib A partial or complete breakage of the rib. HP:0100057 Cone-shaped epiphyses of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100057 UMLS:C4022364 Cone-shaped end part of the 3rd toe bone HP:0500101 Gastric fluid xenobiotic biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500101 Presence of a xenobiotic in gastric fluid. HP:0100058 Enlarged epiphyses of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100058 UMLS:C4022363 Enlarged end part of the 3rd toe bone HP:0100055 Absent epiphyses of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100055 UMLS:C4022366 Absent end part of the 3rd toe HP:0100056 Bracket epiphyses of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100056 UMLS:C4022365 Bracket shaped end part of 3rd toe bone HP:0500100 Plasma/serum xenobiotic biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500100 Presence of a xenobiotic in plasma and/or serum. HP:0500105 Decreased systolic blood pressure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500105 Decreased systolic BP|Reduced systolic blood pressure Abnormal decrease in systolic blood pressure. HP:0100053 Stippling of the epiphyses of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100053 UMLS:C4022368 Speckled calcifications in the end part of the 2nd toe bone The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd toe. HP:0500106 Isolated systolic hypertension biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500106 Elevated systolic blood pressure without an elevated blood pressure. HP:0100054 Triangular epiphyses of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100054 UMLS:C4022367 Triangular end part of the 2nd toe bone HP:0100051 Pseudoepiphyses of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100051 UMLS:C4022370 HP:0500104 Decreased diastolic blood pressure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500104 Decreased diastolic BP|Reduced diastolic blood pressure. Abnormal decrease in diastolic blood pressure. HP:0100052 Small epiphyses of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100052 UMLS:C4022369 Small end part of the 2nd toe bone HP:0500109 Positive urine barbiturate test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500109 Detection of barbiturate metabolites such as Phenobarbital in urine. HP:0100050 Ivory epiphyses of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100050 UMLS:C4022371 Increased bone density of end part 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. HP:0500107 Isolated diastolic hypotension biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500107 A decrease in diastolic blood pressure (<60 mmHg) without a decrease in systolic blood pressure (> or = to 100 mmHg). HP:0500108 Positive urine cocaine test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500108 Detection of cocaine or its major metabolite, benzoylecgonine, in urine. HP:0041152 Fractured sternoclavicular joint biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041152 bone sternoclavicular joint A partial or complete breakage of the sternoclavicular joint. HP:0041153 Fractured ankle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041153 bone ankle joint 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). HP:0041150 Fractured cuboid bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041150 bone cuboid bone A partial or complete breakage of the cuboid bone. HP:0041156 Fractured orbit of skull biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041156 bone orbit of skull A partial or complete breakage of the orbit of skull. HP:0041157 Fractured larynx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041157 bone larynx A partial or complete breakage of the larynx. HP:0041154 Fractured elbow joint biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041154 bone elbow joint A partial or complete breakage of the elbow joint. HP:0041155 Fractured mandible biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041155 bone mandible A partial or complete breakage of the mandible. HP:0100068 Cone-shaped epiphyses of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100068 UMLS:C4022353 Cone-shaped end part of the 4th toe bone HP:0100069 Enlarged epiphyses of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100069 UMLS:C4022352 Enlarged end part of the 4th toe bone HP:0100066 Absent epiphyses of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100066 UMLS:C4022355 Absent end part of the 4th toe bone HP:0100067 Bracket epiphyses of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100067 UMLS:C4022354 Bracket shaped end part of 4th toe bone HP:0100064 Stippling of the epiphyses of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100064 UMLS:C4022357 Speckled calcifications in the end part of the 3rd toe bone The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd toe. HP:0100065 Triangular epiphyses of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100065 UMLS:C4022356 Triangular end part of the 3rd toe bone HP:0100062 Pseudoepiphyses of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100062 UMLS:C4022359 HP:0100063 Small epiphyses of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100063 UMLS:C4022358 Small end part of the 3rd toe bone HP:0100060 Irregular epiphyses of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100060 UMLS:C4022361 Irregular end part of the 3rd toe bone HP:0100061 Ivory epiphyses of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100061 UMLS:C4022360 Increased bone density of end part of the 3rd toe bone Epiphyses of the 3rd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. HP:0041163 Fractured manual digit biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041163 bone manual digit A partial or complete breakage of the manual digit. HP:0041164 Fractured talus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041164 bone talus A partial or complete breakage of the talus. HP:0041161 obsolete Fractured pelvic region of trunk biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041161 HP:0041162 Fractured foot bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041162 Fractured pes|bone pes|Metatarsal fracture|Broken foot A partial or complete breakage of the foot bone, such as the metatarsal or toe. HP:0041167 Fractured cervical vertebra biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041167 bone cervical vertebra A partial or complete breakage of the cervical vertebra. HP:0041168 Fractured lumbar vertebra biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041168 bone lumbar vertebra A partial or complete breakage of the lumbar vertebra. HP:0041165 Fractured maxilla biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041165 bone maxilla A partial or complete breakage of the maxilla. HP:0041166 Fractured vertebra biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041166 bone vertebra A partial or complete breakage of the vertebra. HP:0100079 Cone-shaped epiphyses of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100079 UMLS:C4022342 Cone-shaped end part of the pinky toe bone|Cone-shaped end part of the pinkie toe bone|Cone-shaped end part of the little toe bone HP:0100077 Absent epiphyses of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100077 UMLS:C4022344 Absent end part of the pinky toe bone|Absent end part of the little toe bone|Absent end part of the pinkie toe bone HP:0100078 Bracket epiphyses of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100078 UMLS:C4022343 Bracket shaped end part of pinkie toe bone|Bracket shaped end part of little toe bone|Bracket shaped end part of pinky toe bone HP:0100075 Stippling of the epiphyses of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100075 UMLS:C4022346 Speckled calcifications in the end part of the 4th toe bone The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th toe. HP:0100076 Triangular epiphyses of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100076 UMLS:C4022345 Triangular end part of the 4th toe bone HP:0100073 Pseudoepiphyses of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100073 UMLS:C4022348 HP:0100074 Small epiphyses of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100074 UMLS:C4022347 Small end part of the 4th toe bone HP:0100071 Irregular epiphyses of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100071 UMLS:C4022350 Irregular end part of the 4th toe bone HP:0100072 Ivory epiphyses of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100072 UMLS:C4022349 Increased bone density of end part of the 4th toe bone Epiphyses of the 4th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. HP:0100070 Fragmentation of the epiphyses of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100070 UMLS:C4022351 Fragmentation of the end part of the 4th toe bone HP:0041174 Fractured distal phalanx of manus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041174 bone distal phalanx of manus A partial or complete breakage of the distal phalanx of manus. HP:0041175 Fractured middle phalanx of pes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041175 bone middle phalanx of pes A partial or complete breakage of the middle phalanx of pes. HP:0041172 Fractured fused sacrum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041172 bone fused sacrum A partial or complete breakage of the fused sacrum. HP:0041173 Fractured metacarpophalangeal joint biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041173 bone metacarpophalangeal joint A partial or complete breakage of the metacarpophalangeal joint. HP:0041178 Fractured distal phalanx of manual digit 4 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041178 bone distal phalanx of manual digit 4 A partial or complete breakage of the distal phalanx of manual digit 4. HP:0041179 Fractured distal phalanx of manual digit 5 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041179 bone distal phalanx of manual digit 5 A partial or complete breakage of the distal phalanx of manual digit 5. HP:0041176 Fractured distal phalanx of manual digit 2 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041176 bone distal phalanx of manual digit 2 A partial or complete breakage of the distal phalanx of manual digit 2. HP:0041177 Fractured distal phalanx of manual digit 3 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041177 bone distal phalanx of manual digit 3 A partial or complete breakage of the distal phalanx of manual digit 3. HP:0005490 Postnatal macrocephaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005490 UMLS:C1854417 Macrocephaly, postnatal The postnatal development of an abnormally large skull (macrocephaly). HP:0031782 Microtropia without identity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031782 A type of microtropia in which the manifest movement is demonstrated on the cover-uncover test. HP:0030451 Mesenteric cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030451 SNOMEDCT_US:253802003|UMLS:C0025467|MSH:D008639|SNOMEDCT_US:27970007 A closed fluid filled sac originating from the mesentary. HP:0031783 Absent coronary sinus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031783 Fyler:2841 A developmental defect in which the coronary sinus fails to form. HP:0030452 Chylolymphatic mesenteric cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030452 UMLS:C4072944 A type of mesenteric cyst that is lined with a thin endothelium or mesothelium and filled with chylous and lymphatic fluid. HP:0031784 Abnormal ascending aorta morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031784 Fyler:1431 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. HP:0030453 Abnormal visual electrophysiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030453 UMLS:C4072945 HP:0030454 Abnormal electrooculogram biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030454 UMLS:C0159104|SNOMEDCT_US:442770004 Abnormal EOG The clinical electro-oculogram (EOG) is an electrophysiological test of function of the outer retina and retinal pigment epithelium (RPE) in which changes in electrical potential across the RPE are recorded during successive periods of dark and light adaptation. HP:0031785 Abnormal eyelid movement biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031785 An abnormality in voluntary or involuntary eyelid movements or their control. HP:0031780 Eosinophilic ascites biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031780 A type of ascites in which there are large numbers of eosinophils in the ascitis fluid. HP:0030450 Neuroplasm of the autonomic nervous system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030450 NCIT:C5112|UMLS:C4072943 A tumor that arises from an element of the autonomic nervous system. HP:0031781 Microtropia with identity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031781 A type of microtropia with no manifest movement on cover test, the eccentric fixation point coinciding with the angle of ARC. HP:0004157 obsolete Accessory middle-finger phalanges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004157 HP:0030455 Abnormality of pattern visual evoked potentials biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030455 UMLS:C4072946 HP:0031786 Cogan lid twitch biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031786 Eyelid twitch|Cogan eyelid twitch|Lid twitch Transient eyelid retraction during refixation from down to straight ahead. HP:0030456 Abnormality of pattern onset/offset visual evoked potentials biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030456 UMLS:C4072947 Abnormality of pattern onset/offset VEP HP:0031787 Oblique astigmatism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031787 Astigmatism in which the refractive power of the vertical meridian is the greatest. HP:0030457 Abnormal amplitude of pattern onset/offset visual evoked potentials biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030457 UMLS:C4072948 Abnormal amplitude of pattern onset/offset VEP HP:0031788 With the rule astigmatism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031788 Refractive error in which the vertical meridian is relatively hypermetropic and the horizontal meridian is relatively myopic (or ocular astigmatism in which the refractive power of the horizontal meridian is the greatest). HP:0031789 Against the rule astigmatism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031789 Astigmatism with more plus power on the horizontal meridian. HP:0030458 Abnormal timing of pattern onset/offset visual evoked potentials biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030458 UMLS:C4072949 HP:0005484 Postnatal microcephaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005484 UMLS:C1847514 Postnatal deceleration of head circumference|Deceleration of head growth|Acquired microcephaly|Microcephaly, acquired|Development of small head that was not present at birth|Secondary microcephaly|Microcephaly, postnatal Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth. HP:0005486 Small fontanelle biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0005486 SNOMEDCT_US:276710001|UMLS:C4072855|UMLS:C4072854|UMLS:C0456133 Small cranial sutures|Small bregma sutures|Little cranial sutures|Little fontanelle|Small soft spot|Microfontanelle A fontanelle that is small for age. HP:0004150 Abnormal 3rd finger morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004150 UMLS:C4021682 Abnormality of the middle finger|Abnormality of the 3rd finger An anomaly of the third finger. HP:0005487 Prominent metopic ridge biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0005487 UMLS:C1857949 Ridging of metopic suture|Prominent frontal suture|Prominent frontal ridge|Prominent metopic suture|Ridging of frontal suture Vertical bony ridge positioned in the midline of the forehead. HP:0005482 Abnormality of the alternative complement pathway biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005482 UMLS:C4025191 A deviation in any aspect of the alternative complement pathway. HP:0005483 Abnormal epiglottis morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005483 UMLS:C4025190 Abnormality of the epiglottis An abnormality of the epiglottis. HP:0004153 obsolete Overgrowth of middle finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004153 HP:0041116 Fractured left clavicle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041116 bone left clavicle A partial or complete breakage of the left clavicle. HP:0041117 Fractured lower limb segment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041117 bone lower limb segment A partial or complete breakage of the lower limb segment. HP:0041114 Fractured metaphysis of femur biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041114 bone metaphysis of femur A partial or complete breakage of the metaphysis of femur. HP:0041115 Fractured right clavicle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041115 bone right clavicle A partial or complete breakage of the right clavicle. HP:0041118 Fractured upper limb segment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041118 bone upper limb segment A partial or complete breakage of the upper limb segment. HP:0041119 Fractured metacarpus skeleton biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041119 bone metacarpus skeleton A partial or complete breakage of the metacarpus skeleton. HP:0031793 Increased serum leptin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031793 Elevated circulating leptin level An increased concentration of leptin in the blood. HP:0030462 Abnormal amplitude of flash visual evoked potentials biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030462 UMLS:C4072952 HP:0030463 Asymmetrical distribution of flash visual evoked potentials biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030463 UMLS:C4072953 Crossed asymmetry of flash visual evoked potentials HP:0031794 Decreased circulating glycerol level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031794 A decrease below the normal concentration of glycerol in the blood. HP:0031795 Abnormal circulating glycerol level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031795 Any deviation from the normal concentration of glycerol in the blood. HP:0030464 Asymmetrical distribution of pattern reversal visual evoked potentials biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030464 UMLS:C4072954 Crossed asymmetry of pattern reversal visual evoked potentials HP:0030465 Undetectable light-adapted electroretinogram biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030465 UMLS:C4072955 Absent photopic (cone) responses on ERG|non-detectable photopic ERG No detectable response to the light-adapted 3.0 ERG (single-flash cone response). This type of ERG measures responses of the cone system; a-waves arise from cone photoreceptors and cone off-bipolar cells; the b-wave comes from On- and Off-cone bipolar cells. HP:0031796 Recurrent biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031796 Intermittent Applies to a sign, symptom or manifestation that occurs multiple times separated by intervals in which the sign, symptom, or manifestation is not present. HP:0031790 Mixed astigmatism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031790 A type of astigmatism in which an unequal curvature of the cornea and some cases additionally of the lens causes one meridian of the eye to be hyperopic (farsighted) and a second meridian that is perpendicular to the first to be myopic (nearsighted). HP:0030460 Abnormal timing of pattern reversal visual evoked potentials biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030460 UMLS:C4072950 HP:0031791 Lenticular astigmatism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031791 A type of astigmatism related to an irregular shape of the lens. HP:0031792 Irregular astigmatism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031792 A type of astigmatism in which the principle meridians are not 90 degrees apart and which is associated with loss of vision. HP:0030461 Abnormal timing of flash visual evoked potentials biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030461 UMLS:C4072951 HP:0004168 obsolete Radially pointed proximal middle-finger phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004168 HP:0030466 Abnormal full-field electroretinogram biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030466 UMLS:C4072956 HP:0031797 Clinical course biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031797 Natural history of disease The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual. HP:0030467 Abnormal pattern electroretinogram biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030467 UMLS:C4072957 An anomalous response to a pattern electroretinogram (PERG), a particular kind of ERG obtained in response to contrast modulation of patterned visual stimuli at constant mean luminance-typically contrast-reversing gratings or checkerboards-whose characteristics are fundamentally different from those of the traditional ERG in response to diffuse flashes of light. HP:0031798 Elevated circulating apolipoprotein B concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031798 Elevated ApoB level|Elevated apolipoprotein B level 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. HP:0030468 Abnormal multifocal electroretinogram biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030468 UMLS:C4072958 HP:0031799 Decreased circulating apolipoprotein AI concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031799 Decreased apolipoprotein AI level|Decreased apoA-I level|Decreased apo-AI level Reduced criculating level of apolipoprotein AI, which is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease. HP:0030469 Abnormal dark-adapted electroretinogram biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030469 UMLS:C4072959 HP:0005495 Metopic suture patent to nasal root biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005495 UMLS:C4025189 The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root. HP:0004162 obsolete Radially pointed middle finger phalanges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004162 HP:0004161 obsolete Periosteal new bone of middle finger phalanges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004161 HP:0005498 Midline skin dimples over anterior/posterior fontanelles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005498 UMLS:C1855690 HP:0005494 Premature posterior fontanelle closure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005494 UMLS:C1839126 HP:0030473 Abnormal light-adapted flicker electroretinogram biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030473 UMLS:C4072963 Abnormal light-adapted 30Hz flicker ERG|Abnormal light-adapted 30Hz flicker electroretinogram|Abnormal light-adapted flicker electroretinogram|Abnormal light-adapted flicker ERG HP:0030474 Undetectable dark-adapted electroretinogram biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030474 UMLS:C4072964 HP:0030475 Abnormal timing of dark-adapted dim flash electroretinogram biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030475 UMLS:C4072965 HP:0030476 Abnormal amplitude of dark-adapted dim flash electroretinogram biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030476 UMLS:C4072966 HP:0030470 Abnormal dark-adapted bright flash electroretinogram biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030470 UMLS:C4072960 HP:0030471 Abnormal dark-adapted dim flash electroretinogram biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030471 UMLS:C4072961 HP:0030472 Abnormal light-adapted single flash electroretinogram biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030472 UMLS:C4072962 HP:0004138 obsolete Metaphyseal abnormality of middle phalanx of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004138 HP:0005466 Hypoplasia of the frontal bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005466 UMLS:C4280484|UMLS:C4280483|UMLS:C1845147 Decreased size of bone of forehead|Underdevelopment of bone of forehead|Thin bone of forehead|Hypoplastic frontal bones|Hypotrophic frontal bones|Hypotrophic frontal bone|Small bone of forehead Underdevelopment of the frontal bone. HP:0030477 Abnormal timing of dark-adapted bright flash electroretinogram biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030477 UMLS:C4072967 HP:0030478 Abnormal amplitude of dark-adapted bright flash electroretinogram biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030478 UMLS:C4072968 HP:0006799 Basal ganglia cysts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006799 UMLS:C1837251 Cystic lesions in the basal ganglia HP:0030479 Abnormal amplitude of light-adapted flicker electroretinogram biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030479 UMLS:C4072969 HP:0005469 Flat occiput biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0005469 UMLS:C4280482|UMLS:C1837402 Posterior flattening of the skull|Flat posterior head|Flat back of the skull|Flat back of skull|Flat posterior cranium|Flat back of the head Reduced convexity of the occiput (posterior part of skull). HP:0004139 obsolete Flared metaphysis of middle phalanx of index finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004139 HP:0005462 Calcification of falx cerebri biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005462 UMLS:C1397139 The presence of calcium deposition in the falx cerebri. HP:0006794 Loss of ability to walk in first decade biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006794 UMLS:C1846133 Loss of ability to walk in first decade HP:0005463 Elongated sella turcica biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005463 UMLS:C1863311 HP:0005464 Craniofacial osteosclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005464 UMLS:C1845805|UMLS:C4025193 Cranial sclerosis Abnormally increased density of craniofacial bone tissue. HP:0005465 Facial hyperostosis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0005465 UMLS:C1857501|UMLS:C4280487|UMLS:C4280486|UMLS:C4280485 Hyperostosis of facial bones|Increased ossification of facial skeleton|Enlargment of the facial bones|Excessive growth of facial skeleton|Hyperostosis of facial skeleton|Excessive growth of facial bones|Overgrowth of facial bones|Hypertrophy of facial skeleton|Hypertrophy of facial bones|Overgrowth of the facial bones|Increased ossification of facial bones|Increase in size of the facial bones|Enlargement of facial bones|Enlargement of facial skeleton|Overgrowth of facial skeleton|Hypertrophy of the facial bones Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton. HP:0006790 Cerebral cortex with spongiform changes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006790 UMLS:C1857934 HP:0004132 Dimple on nasal tip biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004132 UMLS:C1863349 Dimple on nasal tip|Dimpled tip of nose An abnormal indentation of the skin in the region of the nasal tip. HP:0041121 Fractured epiphysis of fifth metacarpal bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041121 bone epiphysis of fifth metacarpal bone A partial or complete breakage of the epiphysis of fifth metacarpal bone. HP:0005461 Craniofacial disproportion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005461 UMLS:C1867114 HP:0030484 Supernormal dark-adapted bright flash electroretinogram b-wave biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030484 UMLS:C4072974 HP:0030485 Abnormal amplitude of pattern electroretinogram biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030485 UMLS:C4072975 HP:0030486 Abnormal timing of pattern electroretinogram biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030486 UMLS:C4072976 HP:0030487 Abnormal P50/N95 ratio of pattern electroretinogram biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030487 UMLS:C4072977 HP:0030480 Abnormal timing of light-adapted flicker electroretinogram biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030480 UMLS:C4072970 HP:0030481 Abnormal amplitude of light-adapted single flash electroretinogram biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030481 UMLS:C4072971 HP:0030482 Abnormal timing of light-adapted single flash electroretinogram biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030482 UMLS:C4072972 HP:0030483 Reduced amplitude of dark-adapted bright flash electroretinogram a-wave biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030483 UMLS:C4072973 An abnormal reduction in the amplitude of the a-wave. HP:0005477 Progressive sclerosis of skull base biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005477 UMLS:C1835470 Progressively increasing bone density of the skull base without significant changes in bony contour. HP:0030488 Abnormal central response of multifocal electroretinogram biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030488 UMLS:C4072978 HP:0005478 Prominent frontal sinuses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005478 UMLS:C4280480|UMLS:C1969404|UMLS:C4280479|UMLS:C4280481|UMLS:C4280265 Large frontal sinus|Hypertrophy of frontal sinus|Increased size of frontal sinus|Hyperplasia of frontal sinus|Increased volume of frontal sinus HP:0030489 Abnormal paracentral response of multifocal electroretinogram biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030489 UMLS:C4072979 HP:0005479 Decreased circulating IgE biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005479 UMLS:C0860904 IgE deficiency|Decreased IgE An abnormally decreased level of immunoglobulin E (IgE) in blood. HP:0005473 Fusion of middle ear ossicles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005473 UMLS:C1862068 Bony fusion of malleus, incus, and stapes. HP:0005474 Decreased calvarial ossification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005474 UMLS:C1833762 Poorly ossified calvarium|Skull soft on palpation|Poorly ossified calvaria|Soft calvaria|Undermineralized calvarium|Soft skullcap Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone). HP:0005476 Widely patent sagittal suture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005476 UMLS:C1856779 The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed. HP:0004144 obsolete Duplication of terminal index finger phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004144 HP:0004143 obsolete Radially deviated terminal index finger phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004143 HP:0005472 Orbital craniosynostosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005472 UMLS:C4025192 HP:0031740 Abnormal horizontal rectus muscle physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031740 A functional anomaly of the medial rectus muscle or lateral rectus muscle. HP:0030410 Sebaceous gland carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030410 UMLS:C0206684|SNOMEDCT_US:307599002|SNOMEDCT_US:54734006|MSH:D018266 Sebaceous carcinoma A carcinoma that arises in a sebaseous gland (an exocrine gland of the skin that secretes sebum, a waxy substance) HP:0031741 Inferior oblique muscle underaction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031741 Reduced ocular movement by the inferior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy. HP:0030415 Sarcomatoid carcinoma of the tongue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030415 UMLS:C2018408 Spindle cell carcinoma of the tongue Sarcomatoid (spindle cell) carcinomas of the tongue is a variant of squamous carcinoma of tongue that is monoclonal, having evolved from a conventional squamous carcinoma with dedifferentiation associated with sarcomatoid transformation. HP:0031746 Superior rectus muscle restriction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031746 Mechanical limitation of the range of movement of the superior rectus muscle. HP:0030416 Vulvar neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030416 SNOMEDCT_US:126922007|NCIT:C3262|MSH:D014846|UMLS:C0042995 Neoplasm of the vulva|Tumor of the vulva A tumor (abnormal growth of tissue) of the female external genital tract (vulva). HP:0031747 Superior rectus muscle underaction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031747 Reduced movement of the superior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. HP:0031748 Abnormal vertical rectus muscle physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031748 A functional anomaly of the superior or inferior rectus muscle. HP:0030417 Squamous cell carcinoma of the vulva biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030417 UMLS:C0280856|SNOMEDCT_US:254895003 Vulval squamous cell carcinoma A cancer that originates in the squamous cells that line the surface of the vulva. HP:0030418 Vulvar melanoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030418 SNOMEDCT_US:254896002|UMLS:C0241989 A type of vulvar cancer that originates from melanocytes of the vulva. HP:0031749 Abnormal lateral rectus muscle physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031749 A functional anomaly of the lateral rectus muscle. HP:0031742 Inferior rectus muscle underaction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031742 Reduced movement by the inferior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. HP:0030411 Jejunal adenocarcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030411 UMLS:C4072935|NCIT:C2852 A malignant epithelial tumor with a glandular organization that originates in the jejunum. HP:0030412 Ileal adenocarcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030412 UMLS:C4072936|NCIT:C2852 A malignant epithelial tumor with a glandular organization that originates in the ileum. HP:0031743 Inferior rectus muscle overaction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031743 Excessive action of the inferior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist. HP:0031744 Superior rectus muscle weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031744 Decreased strength of the superior rectus muscle. HP:0030413 Squamous cell carcinoma of the tongue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030413 SNOMEDCT_US:276952000|UMLS:C0349566 A carcinoma derived from a squamous epithelial cell of the tongue. HP:0031745 Superior rectus muscle overaction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031745 Excessive action of the superior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist. HP:0030414 Verrucous cell carcinoma of the tongue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030414 UMLS:C4072937 A low-grade variant of squamous cell carcinoma of the tongue with a warty (verrucous) appearance. HP:0004196 obsolete Short phalanges of the ring finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004196 HP:0004195 Osteolytic defects of the phalanges of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004195 UMLS:C4025409|UMLS:C4020832 Lytic defects of the phalanges of the ring finger Osteolytic defects of the phalanges of the 4th (ring) finger. HP:0004194 obsolete Hypoplastic phalanges of the ring finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004194 HP:0004193 obsolete Expanded phalanges of the ring finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004193 HP:0030419 Bartholin gland carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030419 SNOMEDCT_US:399533005|UMLS:C0349561|SNOMEDCT_US:276876007 A cancer arising in a cell of the Bartholin gland, a racemose gland located slightly posterior to the opening of the vagina. HP:0004198 obsolete Wide/broad phalanges of the ring finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004198 HP:0004197 Symphalangism of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004197 UMLS:C4021679 Symphalangism of the ring finger|Fused ring finger bones Fusion of two or more bones of the 4th finger. HP:0031750 Lateral rectus muscle weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031750 Decreased strength (ability to move) of the lateral rectus muscle. HP:0031751 Lateral rectus muscle underaction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031751 Reduced movement of the lateral rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. HP:0030420 Vulvar adenocarcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030420 UMLS:C1336975 An adenocarcinoma arising in the vulva. HP:0031752 Lateral rectus muscle overaction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031752 Excessive action of the lateral rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist. HP:0030421 Epididymal neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030421 SNOMEDCT_US:126902008|NCIT:C3262|UMLS:C0346239 A tumor (abnormal growth of tissue) of the epididymis, an duct that transports spermatozoa from the testis to the vas deferens. HP:0030426 Ossifying fibroma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030426 SNOMEDCT_US:25603007|MSH:D018214|UMLS:C0206640|SNOMEDCT_US:80699009|SNOMEDCT_US:302863006|SNOMEDCT_US:302862001 A benign central bone tumor composed of fibrous connective tissue within which bone is formed. HP:0031757 Medial rectus muscle restriction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031757 Mechanical limitation of the range of movement of the medial rectus muscle. HP:0030427 Ossifying fibroma of the jaw biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030427 UMLS:C4072940 A benign central bone tumor of the jaw composed of fibrous connective tissue within which bone is formed. HP:0031758 Lateral rectus muscle restriction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031758 Mechanical limitation of the range of movement of the lateral rectus muscle. HP:0031759 Basic constant esotropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031759 Basic (constant) esotropia A form of convergent strabismus (esotropia) in which the deviation is present under all conditions (ie at all distances and at all times). HP:0030428 Cutaneous myxoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030428 UMLS:C1333178|NCIT:C6577 A myxoma originating in the skin. HP:0030429 Juvenile nasopharyngeal angiofibroma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030429 SNOMEDCT_US:716590006|SNOMEDCT_US:60392001|UMLS:C1367536 A benign but highly vascular nasopharyngeal neoplasm. The tumor originates from the sphenopalatine foramen and involves both the pterygopalatine fossa and the posterior nasal cavity. HP:0031753 Medial rectus muscle weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031753 Decreased strength of the medial rectus muscle. HP:0030422 obsolete Papillary cystadenoma of the epididymis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030422 HP:0030423 Splenic cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030423 SNOMEDCT_US:79040006|UMLS:C0272407 Cyst on spleen A closed sac located in the spleen. HP:0031754 Medial rectus muscle overaction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031754 Excessive action of the medial rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist. HP:0031755 Abnormal rectus muscle physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031755 A functional anomaly of a vertical or horizontal rectus muscle. HP:0030424 Epididymal cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030424 MSH:D013088|SNOMEDCT_US:49263001|UMLS:C0037859|SNOMEDCT_US:43077002 Epididymal cysts A smooth, extratesticular, spherical cyst in the head of the epididymis. HP:0031756 Medial rectus muscle underaction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031756 Reduced movement of the medial rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. HP:0030425 Calcified ovarian cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030425 UMLS:C4072939 A cyst of the ovary that exhibits deposition of calcium salts. HP:0004180 Short distal phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004180 UMLS:C4021681 Hypoplastic/small distal phalanx of the 3rd finger|Short outermost bone of the middle finger|Short terminal phalanx of middle finger|Short distal phalanx of the third finger Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger. HP:0031760 Non-accomodative esotropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031760 A form of esotropia in which the angle of deviation is not affected by accommodative effort. HP:0030430 Neuroma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030430 SNOMEDCT_US:25169009|UMLS:C0027858|SNOMEDCT_US:274089002|SNOMEDCT_US:84116009|UMLS:C0273482|MSH:D009463|SNOMEDCT_US:443892003 Pinched nerve|Nerve tumor A tumor made up of nerve cells and nerve fibers. HP:0031761 Infantile constant esotropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031761 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. HP:0030431 Osteochondroma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030431 SNOMEDCT_US:443093007|UMLS:C0029423|SNOMEDCT_US:52299001|MSH:D015831|SNOMEDCT_US:307573009 Osteochondromas|Osteocartilaginous exostoses A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone. HP:0031762 Distance esotropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031762 Divergence insufficiency An intermittent esotropia where binocular single vision is present on near fixation and an esotropia on distance fixation. Often associated with myopia and aging. HP:0031763 Cyclic esotropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031763 Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle. HP:0030432 Chondroblastoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030432 MSH:D002804|UMLS:C0008441|SNOMEDCT_US:9001003 A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells. HP:0031768 Parafoveal fixation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031768 Fixation of an object in the area adjacent to the fovea. HP:0030437 Anal canal neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030437 NCIT:C3262|UMLS:C0345883|SNOMEDCT_US:126850006 Anal canal tumor HP:0030438 Anal canal squamous cell carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030438 UMLS:C1332262 A squamous cell carcinoma that originates in the anal canal. HP:0031769 Peripheral fixation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031769 Fixation of an object in a peripheral area of the retina. HP:0030439 Anal canal adenocarcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030439 UMLS:C1332259|NCIT:C2852 An adenoma carcinoma that originates in the anal canal. HP:0031764 Fully accomodative esotropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031764 Esotropia in which normal binocular single vision is present for all distances when the hypermetropic refractive error is corrected. Esotropia is present for near and distance on accommodation without correction. HP:0030433 Osteoid osteoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030433 SNOMEDCT_US:71666005|MSH:D010017|SNOMEDCT_US:302859004|UMLS:C0029441 A bening tumor of bone composed of a central zone named nidus which is an atypical bone completely enclosed within a well vascularized stroma and a peripheral sclerotic reaction zone. HP:0031765 Partially accomodative esotropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031765 Constant esotropia with an accommodative element|Constant esotropia with an accommodative component A form of constant esotropia in which the angle of deviation is partially affected by accommodative effort. Typically there is esotropia at near and distance with hypermetropic correction and the angle of deviation increases without glasses. HP:0030434 Pilomatrixoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030434 MSH:D018296|UMLS:C0206711|SNOMEDCT_US:274901004|SNOMEDCT_US:44155009 Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm. HP:0031766 Convergence excess esotropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031766 An intermittent esotropia with binocular single vision present at distance fixation but esotropia on accommodation for near fixation. Usually associated with hypermetropia but patients can be emmetropic and rarely myopic. Associated with a high accommodative convergence/accommodation (AC/A) ratio. HP:0030436 Fibrofolliculoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030436 SNOMEDCT_US:128683008|SNOMEDCT_US:254699007|UMLS:C0346011 Fibrofolliculomas Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation. HP:0031767 Consecutive esotropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031767 Esotropia in a patient who has previously had exotropia or exophoria; may be constant or intermittent and usually follows surgical overcorrection. HP:0004174 obsolete Accessory middle phalanx of middle finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004174 HP:0004172 Abnormality of the middle phalanx of the 3rd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004172 UMLS:C4025410 Abnormal middle finger bone of the middle finger HP:0004175 obsolete Periosteal new bone of middle phalanx of middle-finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004175 HP:0004192 obsolete Bracket epiphyses of the 4th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004192 HP:0031771 Epicanthus tarsalis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031771 A type of epicanthus in which a primarily upper lid fold is present. HP:0030440 Anal margin neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030440 UMLS:C2064234 A tumor of the anal margin. HP:0031772 Abnormal posterior circulating artery morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031772 Any structural anomaly of the posterior circulating artery (PCOM). HP:0030441 Anal margin Paget's disease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030441 UMLS:C1332270 An intraepithelial adenocarcinoma originating in the anal margin and characterized by presence of typical Paget's cells, appearing as large rounded vacuolated cells. HP:0030442 Anal margin squamous cell carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030442 SNOMEDCT_US:255084004|UMLS:C1412037 A squamous cell carcinoma that originates in the skin of the anal margin. HP:0031773 Posterior communicating artery aneurysm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031773 A widening (ballooning) localized in the wall of the posterior communicating artery. HP:0030443 Anal margin basal cell carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030443 UMLS:C1332269 A basal cell carcinoma that originates in the anal margin. HP:0031774 Posterior communicating artery infundibulum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031774 A funnel-shaped symmetrical enlargement of the origin of the posterior communicating artery at its junction with the internal carotid artery. HP:0031770 Epicanthus palpebralis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031770 A type of epicanthus in which a medial vertical fold is present between upper and lower lids. HP:0031779 Excyclophoria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031779 A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated outward (laterally) to each other. HP:0030448 Soft tissue sarcoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030448 UMLS:C1261473|SNOMEDCT_US:424413001|SNOMEDCT_US:269469005|SNOMEDCT_US:2424003|SNOMEDCT_US:424952003|MSH:D012509 Soft tissue sarcomas 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. HP:0030449 Therapeutic abortion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030449 SNOMEDCT_US:386641000|MSH:D000032|UMLS:C0000820 Delivery by means of therapeutic termination of pregnancy. Therapeutic abortion may be done to end a pregnancy if the mother's life is in danger or if the baby has abnormalities involving the major organ systems and is not expected to survive after birth or by choice. HP:0030444 Anal margin melanoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030444 UMLS:C4072941 A melanoma that originates in the anal margin. HP:0031775 Neurogenic strabismus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031775 Paralytic strabismus An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them. HP:0030445 Pulmonary carcinoid tumor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030445 UMLS:C0280089|SNOMEDCT_US:254627002 Pulmonary carcinoid tumour|Lung carcinoid tumor A malignant neuroendocrine tumor of the lung. According to histopathologic criteria (WHO 2004), carcinoids are divided into four groups i.e. typical and atypical carcinoids, large cell neuroendocrine carcinoma and small cell lung carcinoma. HP:0031776 Cyclotropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031776 A form of manifest strabismus (heterotropia) in which the one eye is wheel rotated so that the upper end of its vertical axis is nasal (incyclotropia) or temporal (excyclotropia). HP:0030446 Atypical pulmonary carcinoid tumor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030446 UMLS:C4072942 Atypical pulmonary carcinoid tumour HP:0031777 Cyclophoria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031777 A form of latent strabismus (heterophoria) in which the occluded eye wheel-rotates on dissociation. HP:0030447 Merkel cell skin cancer biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030447 SNOMEDCT_US:5052009|SNOMEDCT_US:253001006|MSH:D015266|SNOMEDCT_US:254729005|UMLS:C0007129 Primary small cell carcinoma of the skin|Primary undifferentiated carcinoma of the skin|Cutaneous APUDoma|Anaplastic carcinoma of the skin|Merkel cell cancer of the skin|Neuroendocrine carcinoma of the skin|Neuroendocrine tumor of the skin A malignant cutaneous tumor of the elderly that is characterized by an aggressive course with regional nodal involvement, distant metastases and a high rate of recurrence. Most patients present with rapidly growing, painless, firm, non-tender, dome-shaped red, occasionally ulcerated skin nodules, which have a red or bluish color, measuring up to several centimeters, on predominantly sun-exposed areas of the body. The overlying skin is smooth and shiny, sometimes exhibiting ulcerative, acneiform or telangiectatic features. HP:0031778 Incyclophoria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031778 A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated inward (medially) to each other. HP:0004185 obsolete Fused epiphysis of terminal phalanx of the middle finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004185 HP:0004184 obsolete Cone-shaped epiphysis of terminal phalanx of the middle finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004184 HP:0004183 obsolete Abnormality of the epiphyses of the terminal phalanx of the middle finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004183 HP:0004188 Abnormal 4th finger morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004188 UMLS:C4021680 Abnormality of the ring finger|Abnormality of the 4th finger HP:0004187 obsolete Prematurely fused epiphysis of terminal phalanx of the middle finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004187 HP:0004186 obsolete Large epiphysis of terminal phalanx of the middle finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004186 HP:0006739 Squamous cell carcinoma of the skin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006739 UMLS:C0553723|SNOMEDCT_US:254651007 Squamous skin carcinoma Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium. HP:0005409 obsolete Markedly reduced T cell function biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005409 HP:0006735 Renal cortical adenoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006735 UMLS:C0346253|NCIT:C2855|SNOMEDCT_US:254919009 Kidney cortical adenoma The presence of an adenoma in the cortex of the kidney. HP:0005404 Increased B cell count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005404 UMLS:C1858972 Increased number of B cells|Increase in B cell number|Increase in B cell count An abnormal increase from the normal count of B cells. HP:0031702 Anterior chamber red blood cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031702 Anterior chamber RBCs The presence of erythrocyte in the aqueous humor of the anterior chamber of the eye. HP:0031703 Abnormal ear morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031703 Fyler:4867 Any structural anomaly of the ear. HP:0005406 Recurrent bacterial skin infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005406 UMLS:C1835686 Recurrent episodes of infectious dermatitis|Recurrent bacterial skin infections|Recurrent episodes of impetigo|Recurrent pyogenic skin infections|Recurrent cutaneous pyogenic infections Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis. HP:0006737 Extraadrenal pheochromocytoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006737 UMLS:C1257877|MSH:D010673 Pheochromocytoma, extraadrenal Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia. HP:0031704 Abnormal ear physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031704 Any functional anomaly of the ear. HP:0005407 Decreased proportion of CD4-positive helper T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005407 UMLS:C1839304 Abnormality of CD4+ T cells|CD4+ T-cell lymphopenia|CD4 T cell lymphopenia A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count. HP:0031705 Compensatory head posture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031705 A compensatory head posture occurs when the head is deviated out of the normal primary straight head position in order to compensate for an ocular problem. HP:0006731 Follicular thyroid carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006731 SNOMEDCT_US:255028004|SNOMEDCT_US:28173006|SNOMEDCT_US:5257006|NCIT:C8054|UMLS:C0206682|MSH:D018263 The presence of an follicular adenocarcinoma of the thyroid gland. HP:0005400 Reduction of neutrophil motility biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005400 UMLS:C4025201 An abnormal reduction of the cell motility of neutrophils. HP:0006732 Papillary renal cell carcinoma type 2 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006732 UMLS:C1336840 A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification. HP:0005401 Recurrent candida infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005401 UMLS:C1860128 Frequent candida infections An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections. HP:0006733 Acute megakaryocytic leukemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006733 SNOMEDCT_US:91861009|UMLS:C0023467|SNOMEDCT_US:17788007|SNOMEDCT_US:413443009|MSH:D015470 AMegL|Acute megakaryocytic leukaemia A rare subtype of acute myeloid leukemia evolving from primitive megakaryoblasts. HP:0031700 Invasive parasitic infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031700 A parasitic infection whereby the parasite invades (migrates through) tissues of the infected host. HP:0005402 obsolete Primary T-lymphocyte immune abnormalities biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005402 HP:0005403 T lymphocytopenia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005403 MSH:C536783|UMLS:C2931322 Decrease in T cell number|Decrease in T cell count|Decreased numbers of circulating T cells|Low T cell count|Reduced number of T cells An abnormally low count of T cells. HP:0031701 Anterior chamber inflammatory cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031701 The presence of inflammatory cells in the aqueous humor of the anterior chamber of the eye. HP:0031706 Compensatory chin depression biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031706 A tendency to hold the chin depressed (lowered) to compensate for a limitation of eye movement. HP:0031707 Compensatory face turn to the right biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031707 A tendency to turn the face to the right to compensate for a limitation of eye movement. HP:0031708 Compensatory face turn to the left biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031708 A tendency to turn the face to the left to compensate for a limitation of eye movement. HP:0031709 Compensatory head tilt to the right shoulder biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031709 A tendency to tilt the head towards the right shoulder to compensate for a limitation of eye movement. HP:0005419 Decreased T cell activation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005419 UMLS:C1846550 Defective T cell activation|Decreased T lymphocyte activation|Profound depletion of T4+ lymphocytes|Decreased T-cell activation|Decreased T-lymphocyte activation Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. HP:0031713 Constant exotropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031713 A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times. HP:0005415 Decreased proportion of CD8-positive T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005415 UMLS:C1839305 CD8+ T-cell lymphopenia|Decreased proportion of CD8-positive, alpha-beta T cells|Decreased proportion of CD8+ T cells A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells. HP:0031714 Distance exotropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031714 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. HP:0006747 Ganglioneuroblastoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006747 SNOMEDCT_US:69515008|UMLS:C0206718|SNOMEDCT_US:116381000119105|MSH:D018305 HP:0005416 Decreased serum complement factor B biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005416 UMLS:C4021636 Decreased serum factor b A reduced level of the complement component factor B in circulation. HP:0006748 Adrenal pheochromocytoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006748 SNOMEDCT_US:85583005|UMLS:C0031511|MSH:D010673|SNOMEDCT_US:302835009|SNOMEDCT_US:399343007|NCIT:C3326 Pheochromocytoma, adrenal|Pheochromocytomas, adrenal Pheochromocytoma originating from the adrenal medulla. HP:0031715 Near exotropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031715 An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant). HP:0031716 Cyclic exotropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031716 A type of exotropia (divergent strabismus) in which binocular single vision alternates with large angle exotropia in rhythmic cycle. HP:0006749 Malignant gastrointestinal tract tumors biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006749 SNOMEDCT_US:428905002|MSH:D005770|UMLS:C0685938 Malignant GI tract tumors|Malignant gastrointestinal tract tumours HP:0005411 Chronic intestinal candidiasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005411 UMLS:C4025199|UMLS:C4020823 Candida overgrowth syndrome Persistent overgrowth of Candida albicans in the gastrointestinal tract. HP:0006742 Congenital neuroblastoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006742 UMLS:C4024986 HP:0031710 Compensatory head tilt to the left shoulder biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031710 A tendency to tilt the head towards the left shoulder to compensate for a limitation of eye movement. HP:0006743 Embryonal rhabdomyosarcoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006743 SNOMEDCT_US:14269005|NCIT:C8971|SNOMEDCT_US:404051002|UMLS:C0206656|MSH:D018233 HP:0006744 Adrenocortical carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006744 MSH:D018268|SNOMEDCT_US:255035007|NCIT:C2916|UMLS:C0206686|SNOMEDCT_US:2227007 Adrenal carcinoma|Adrenal gland carinoma A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone. HP:0031711 Asymmetric abdominal aortic aneurysm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031711 An abdominal aortic aneurysm that is not symmetric around its axis (not axisymmetric). HP:0005413 Increased alpha-globulin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005413 UMLS:C1167806|SNOMEDCT_US:124022007 An abnormally increased level of circulationg alpha-globulin. Alpha globulins are a group of serum proteins defined by their mobility on serum electrophoresis. The alpha1-protein fraction is comprised of alpha1-antitrypsin, thyroid-binding globulin, and transcortin. Ceruloplasmin, alpha2-macroglobulin, and haptoglobin contribute to the alpha2-protein band. The alpha2 component is increased as an acute-phase reactant. HP:0006740 Transitional cell carcinoma of the bladder biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006740 NCIT:C2930|SNOMEDCT_US:255109008|UMLS:C0279680 Transitional cell bladder carcinoma The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell. HP:0031717 Alternating exotropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031717 Alternating strabismus A type of exotropia in which either eye may be used for fixation. HP:0031718 Consecutive exotropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031718 Exotropia in an individual who has previously had esotropia or esophoria. HP:0031719 True distance exotropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031719 Exotropia (intermittent or constant) on distance fixation with binocular single vision on near fixation under all testing conditions. The accommodative convergence/accommodation (AC:A) ratio is within normal limits. HP:0006717 Peripheral neuroepithelioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006717 UMLS:C3489398|SNOMEDCT_US:254764001 HP:0006719 Benign gastrointestinal tract tumors biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006719 SNOMEDCT_US:92118007|UMLS:C0497538 Non-cancerous GI tumors|Benign gastrointestinal tract tumours|Benign GI tract tumors HP:0006713 Aplasia/Hypoplasia of the scapulae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006713 UMLS:C4024991 Absent/small shoulder blade|Absent/underdeveloped shoulder blade HP:0031724 Microtropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031724 A small angle heterotropia (usually of 10 diopters or less) in which a form of binocular single vision occurs. HP:0031725 Hypophoria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031725 A form of latent strabismus (heterophoria) in which, on dissociation, the occluded eye deviates downwards. HP:0006714 Aplasia/Hypoplasia of the sternum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006714 UMLS:C4024990 Absent/underdeveloped sternum|Absent/small sternum HP:0031726 Incyclotropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031726 A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated inward (medially) to each other. HP:0006715 Glomus tympanicum paraganglioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006715 UMLS:C1866555 Tympanic nerve tumor|Tympanic nerve tumors HP:0006716 Hereditary nonpolyposis colorectal carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006716 UMLS:C4024989 HP:0031727 Excyclotropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031727 A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated outward (laterally) to each other. HP:0031720 Simulated distance exotropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031720 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. HP:0006710 Aplasia/Hypoplasia of the clavicles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006710 UMLS:C4024993 Absent/small collarbone|Absent/underdeveloped collarbone Absence or underdevelopment of the clavicles (collar bones). HP:0031721 Sensory exotropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031721 Secondary exotropia A type of divergent strabismus (exotropia) that develops in a poorly seeing eye. HP:0006711 Aplasia/Hypoplasia involving bones of the thorax biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006711 UMLS:C4024992 Absent/small outermost thorax bone|Absent/underdeveloped thorax bone HP:0031722 Near esotropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031722 Non-accomodative convergence excess esotropia An intermittent esotropia where there is binocular single vision on distance fixation and esotropia at near even when the accommodation is relieved. HP:0006712 Aplasia/Hypoplasia of the ribs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006712 UMLS:C1847363 Absent/small ribs|Absent/underdeveloped ribs|Hypoplastic or missing ribs HP:0031723 Secondary esotropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031723 Sensory esotropia Convergent squint which follows loss or impairment of vision. HP:0031728 Mild hypermetropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031728 Mild hyperopia A form of hypermetropia with not more than +2.00 diopters. HP:0031729 Moderate hypermetropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031729 Moderate hyperopia A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters. HP:0031730 Axial myopia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031730 A form of myopia related to an axial length above the norm and too long for the refractive power of the whole optical system of the eye. HP:0006729 Retroperitoneal chemodectomas biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006729 NCIT:C3308|UMLS:C4024987 HP:0030404 Glucagonoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030404 MSH:D005935|SNOMEDCT_US:128855009|UMLS:C0017689|SNOMEDCT_US:16424000|SNOMEDCT_US:302823005 An endocrine tumor of the pancreas that secretes excessive amounts of glucagon. HP:0006725 Pancreatic adenocarcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006725 SNOMEDCT_US:700423003|UMLS:C0281361|NCIT:C2852 The presence of an adenocarcinoma of the pancreas. HP:0030405 Pancreatic endocrine tumor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030405 SNOMEDCT_US:76345009|SNOMEDCT_US:399528006|UMLS:C0242363|SNOMEDCT_US:126864006|SNOMEDCT_US:237596009|MSH:D007516|SNOMEDCT_US:128878003 Pancreatic endocrine tumour A neuroendocrine tumor originating in a hormone-producing cell (islet cell) of the pancreas. HP:0031736 Involutional entropion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031736 An abnormal inversion of the eyelid towards the globe resulting from inferior retractor muscle dysfunction with tissue laxity and, possibly, overriding of the preseptal orbicularis muscle over the pretarsal orbicularis muscle. HP:0030406 Primary peritoneal carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030406 UMLS:C1514428 A type of cancer that originates in the peritoneum. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum. HP:0031737 Cicatricial entropion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031737 Abnormal inversion (turning inward) of the eyelid towards the globe associated with scarring that vertically shortens the posterior lamella of the eyelid. HP:0030407 Pineocytoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030407 SNOMEDCT_US:89096009|MSH:D010871|SNOMEDCT_US:255045009|UMLS:C0917890|NCIT:C6966 A type of pineal parenchymal cell neoplasm that is a mature well-differentiated tumour (WHO grade I). HP:0006727 T-cell acute lymphoblastic leukemias biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006727 MSH:D054218|SNOMEDCT_US:128824003|UMLS:C1961099|SNOMEDCT_US:277575008 Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. HP:0031738 Mechanical entropion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031738 A type of entropion (abnormal inversion of the eyelid towards the globe) that is related to a mass effect of a lesion (e.g., a tumor) that pulls the eyelid margin away from the globe. HP:0030400 Abnormal platelet lysosome secretion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030400 UMLS:C4072933 Abnormal release of lysosome contents from platelets. HP:0031731 Increased tear production biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031731 Increased lacrimation owing to overproduction of tears. HP:0030401 Abnormal platelet dense granule ATP/ADP ratio biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030401 UMLS:C4072934 Deviation from normal of the ratio of adenosine triphosphate (ATP) to adenosine diphosphate (ADP) within platelets. HP:0006721 Acute lymphoblastic leukemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006721 SNOMEDCT_US:128822004|UMLS:C0023449|SNOMEDCT_US:91857003 Acute lymphocytic leukemia|Acute lymphatic leukemia|Acute lymphoid leukemia|Acute lymphoblastic leukaemia A form of acute leukemia characterized by excess lympoblasts. HP:0031732 Increased basal tear production biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031732 A form of watery eye associated with overproduction of tears due to an increased parasympathetic drive to the secretory component of the lacrimal system (lacrimal gland); this could be due to pro-secretory drug use (e.g. pilocarpine) or autonomic disturbance. HP:0031733 Reflex tearing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031733 A form of watery eye associated with overproduction of tears due to reflex tearing in response to a local irritant (e.g. trichiasis or foreign body), chronic ocular surface disease (e.g. blepharitis) or systemic disease (e.g. thyroid eye disease). HP:0030402 Abnormal platelet aggregation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030402 UMLS:C0541767 An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent. HP:0006722 Small intestine carcinoid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006722 UMLS:C1868072 HP:0030403 Spontaneous platelet aggregation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030403 MSH:C566800|UMLS:C1868263 Clumping together of platelets in the blood in a platelet aggregation test without addition of agents normally used to induce aggregation. HP:0031734 Lacrimal pump failure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031734 A form of watery eye associated with abnormal lid tone and/or lid position. The former is due to lid laxity (common involutional change in the elderly) or a weak orbicularis muscle (e.g. due to VII cranial nerve palsy). The latter is typically associated with ectropion causing punctal eversion. HP:0006723 Intestinal carcinoid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006723 UMLS:C4024988 HP:0031739 Abnormal oblique muscle physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031739 A functional anomaly of the inferior or superior oblique muscle. HP:0030408 Pineoblastoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030408 UMLS:C0205898|MSH:D010871|SNOMEDCT_US:31671006 Pinealoblastoma 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. HP:0030409 Renal transitional cell carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030409 UMLS:C1319314|SNOMEDCT_US:408642003 Renal urothelial carcinoma|renal TCC|Transitional renal cell carcinoma A malignant tumor that arises from the transitional (urothelial) epithelial cells lining the urinary tract from the renal calyces to the ureteral orifice. HP:0006779 Alveolar rhabdomyosarcoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006779 SNOMEDCT_US:63449009|UMLS:C0206655|MSH:D018232|NCIT:C3749|SNOMEDCT_US:404053004 HP:0005449 Bridged sella turcica biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005449 UMLS:C1866959|MSH:C566689 HP:0006775 Multiple myeloma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006775 SNOMEDCT_US:415112005|MSH:D010954|MSH:D009101|UMLS:C0026764|SNOMEDCT_US:109989006|UMLS:C0032131|SNOMEDCT_US:10639003|SNOMEDCT_US:55921005 Plasmocytoma|Kahler's disease A malignant plasma cell tumor growing within soft tissue or within the skeleton. HP:0005445 Enlarged posterior fossa biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005445 UMLS:C1855889 Widened posterior fossa Abnormal increased size of the posterior cranial fossa. HP:0005446 Obtuse angle of mandible biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005446 UMLS:C4038738|SNOMEDCT_US:709997007 High mandibular plane angle|Steep mandibular plane angle Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal. HP:0006778 Benign genitourinary tract neoplasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006778 UMLS:C3804991 Benign GU tract neoplasm|Benign genitourinary tract tumor A non-malignant neoplasm of the genitourinary system. HP:0006771 Duodenal adenocarcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006771 SNOMEDCT_US:408644002|SNOMEDCT_US:254570009|UMLS:C0278804|MSH:D004379|NCIT:C2852|UMLS:C0541912 Duodenal cancer A malignant epithelial tumor with a glandular organization that originates in the duodenum. HP:0006772 Renal angiomyolipoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006772 SNOMEDCT_US:254921004|NCIT:C3734|UMLS:C0241961 Kidney angiomyolipoma|Angiomyolipoma A benign renal neoplasm composed of fat, vascular, and smooth muscle elements. HP:0005441 Sclerotic cranial sutures biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005441 UMLS:C4025195 An increased density in the cranial sutures following obliteration. HP:0006773 Cutaneous angiolipomas biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006773 UMLS:C4024980|NCIT:C3733 HP:0005442 Widely patent coronal suture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005442 UMLS:C1856778 The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed. HP:0006774 Ovarian papillary adenocarcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006774 NCIT:C2853|UMLS:C4024979 The presence of a papillary adenocarcinoma of the ovary. HP:0004112 Midline nasal groove biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004112 UMLS:C4025412 Midline nasal groove|Central nasal groove An abnormal groove on the midline of the nose that may extend to the nasal tip. HP:0004110 obsolete Radially deviated index finger phalanges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004110 HP:0006770 Clear cell renal cell carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006770 SNOMEDCT_US:41607009|SNOMEDCT_US:254915003|UMLS:C0279702|MSH:D002292|SNOMEDCT_US:188251003 Nonpapillary renal cell carcinoma A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron. HP:0005456 Absent ethmoidal sinuses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005456 UMLS:C4025194 Missing ethmoid sinuses|Agenesis of ethmoid sinuses|Failure of development of ethmoid sinuses Lack (aplasia) of the ethmoidal sinus. HP:0005458 Premature closure of fontanelles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005458 SNOMEDCT_US:57219006|UMLS:C0010278|MSH:D003398|UMLS:C4072853|UMLS:C0277827|SNOMEDCT_US:1667003 Early closure of the fontanelles|Obliterated fontanelles|Early closure of the cranial sutures|Premature closure of the cranial sutures|Premature closure of the bregma sutures|Early closure of the bregma sutures 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. HP:0006789 Mitochondrial encephalopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006789 MSH:C538525|UMLS:C1852373 HP:0006782 Malignant eosinophil proliferation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006782 MSH:C565054|UMLS:C1851585 HP:0005451 Decreased cranial base ossification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005451 UMLS:C1835442 HP:0006783 Posterior pharyngeal cleft biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006783 UMLS:C1848389 HP:0006784 Paranasal sinus hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006784 UMLS:C4280441|UMLS:C2749161|UMLS:C4280256|UMLS:C4280442 Decreased size of paranasal sinus|Underdevelopment of paranasal sinus|Decreased pneumatization of paranasal sinus|Small paranasal sinus|Decreased volume of paranasal sinus|Decreased growth of paranasal sinus|Atelectasis of paranasal sinus|Hypotrophic paranasal sinus Underdevelopment of the paranasal sinuses. HP:0005453 Absent/hypoplastic paranasal sinuses biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0005453 UMLS:C1856639 Aplasia or hypoplasia of the paranasal sinuses. HP:0006785 Limb-girdle muscular dystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006785 SNOMEDCT_US:93153005|MSH:D049288|UMLS:C0686353 limb girdle muscular dystrophy Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders). HP:0004122 Midline defect of the nose biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004122 UMLS:C4025411|UMLS:C4280539 Central cleft of nose|Midline cleft of nose|Midline nasal defect|Central nasal defect|Central defect of nose|Midline defect of the nose This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip. HP:0006780 Parathyroid carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006780 NCIT:C2916|MSH:D010282|SNOMEDCT_US:255037004|UMLS:C0687150|SNOMEDCT_US:363481002 Parathyroid Cancer A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism. HP:0004121 obsolete Radially displaced proximal index finger phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004121 HP:0005450 Calvarial osteosclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005450 UMLS:C1855657 An increase in bone density affecting the calvaria (roof of the skull). HP:0006781 Hurthle cell thyroid adenoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006781 UMLS:C1336750 A kind of thyroid adenoma characterized by the presence of oxyphil cells. HP:0006758 Malignant genitourinary tract tumor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006758 UMLS:C1834728 Malignant GU tract tumor|Malignant genitourinary tract tumour The presence of a malignant neoplasm of the genital system. HP:0005428 Severe recurrent varicella biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005428 UMLS:C1833487|MSH:C563458 HP:0005429 Recurrent systemic pyogenic infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005429 UMLS:C4025196 Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections. HP:0006753 Neoplasm of the stomach biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006753 NCIT:C3262|UMLS:C4020813|SNOMEDCT_US:126824007|UMLS:C0038356|MSH:D013274 Neoplasia of the stomach|Stomach tumor A tumor (abnormal growth of tissue) of the stomach. HP:0005422 Absence of CD8-positive T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005422 UMLS:C4025197 Absence of CD8+ T cells Lack of detectible CD8-positive T cells HP:0005423 Dysfunctional alternative complement pathway biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005423 UMLS:C1839458 An abnormality of the functioning of any aspect of the alternative complement pathway. HP:0006755 Cutaneous leiomyosarcoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006755 SNOMEDCT_US:254771006|UMLS:C0346067|NCIT:C3158 The presence of leiomyosarcoma of the skin. HP:0005424 Absent specific antibody response biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005424 UMLS:C1863246 Absence of specific immunoglobulins directed against a specific antigen or microorganism. HP:0005425 Recurrent sinopulmonary infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005425 UMLS:C1846546 Recurrent sinus and lung infections|Chronic sinopulmonary infection An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections. HP:0006756 Diffuse leiomyomatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006756 UMLS:C4024984 HP:0006751 Paraspinal neurofibromas biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006751 UMLS:C4024985 HP:0005420 Recurrent gram-negative bacterial infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005420 UMLS:C4025198 Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents. HP:0005421 Decreased serum complement C3 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005421 UMLS:C1837512 Decreased serum C3|Decreased serum complement C3 level A reduced level of the complement component C3 in circulation. HP:0006768 Localized neuroblastoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006768 UMLS:C4024981 Localised neuroblastoma HP:0005437 Recurrent infections in infancy and early childhood biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005437 UMLS:C1844909 Recurrent infections at an early age with improvement in later childhood. HP:0006769 Myxoid subcutaneous tumors biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006769 UMLS:C1834421 Myxoid subcutaneous tumours HP:0005439 Maxillozygomatic hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005439 UMLS:C1848908|UMLS:C4280488 Underdevelopment of zygomaticomaxillary bone complex|Decreased size of zygomaticomaxillary bone complex|Hypoplasia of zygomaticomaxillary complex|Deficiency of zygomaticomaxillary bone complex|Hypoplasia of malar bone complex|Decreased projection of zygomaticomaxillary bone complex Hypoplasia of the maxillozygomatic complex. HP:0006765 Chondrosarcoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006765 SNOMEDCT_US:443520009|UMLS:C0008479|NCIT:C2946|SNOMEDCT_US:14990007|MSH:D002813 A slowly growing malignant neoplasm derived from cartilage cells. HP:0006766 Papillary renal cell carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006766 UMLS:C1306837|NCIT:C2916|MSH:D002292 The presence of renal cell carcinoma in the renal papilla. HP:0005435 Impaired T cell function biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005435 UMLS:C1860127 Impaired T cell function|T-cell dysfunction Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity. HP:0006767 Pituitary prolactin cell adenoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006767 SNOMEDCT_US:34337008|SNOMEDCT_US:134209002|MSH:D015175|UMLS:C0033375 Pituitary prolactinoma|Prolactin-secreting pituitary adenoma A type of pituitary adenoma originating in prolactin secreting cells. This kind of adenoma is characterized by overproduction of prolactin, and may cause loss of menstrual periods and breast milk production in women. HP:0005430 Recurrent Neisserial infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005430 UMLS:C3151083 Recurrent neisseria infections|Episodes of neisserial infection Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis). HP:0006762 Renal pelvic carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006762 UMLS:C4024983|NCIT:C2916 The presence of a carcinoma in the renal pelvis. HP:0005432 Transient hypogammaglobulinemia of infancy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005432 UMLS:C0272238|UMLS:C4020822|SNOMEDCT_US:88714009 Newborn gammaglobulin deficiency At birth, newborns are endowed with maternal antibodies. IgG production normally begins at the age of two months. A delay in recovery from this physiological hypogammaglobulinemia between the 3rd and the 6th month of life, and of recovery period between 18 and 36 months defines transient newborn hypogammaglobulinemia. HP:0006763 Anal canal squamous carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006763 UMLS:C4024982 HP:0004100 Abnormal 2nd finger morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004100 UMLS:C4021683 Abnormality of index finger|Abnormality of the 2nd finger An anomaly of the second finger, also known as the index finger. HP:0100088 Abnormality of the epiphysis of the distal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100088 UMLS:C4022333 Abnormality of the end part of the outermost bone of the 2nd toe HP:0100089 Abnormality of the epiphysis of the middle phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100089 UMLS:C4022332 Abnormality of the end part of the middle bone of the 2nd toe HP:0100086 Stippling of the epiphyses of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100086 UMLS:C4022335 Speckled calcifications in the end part of the pinky toe bone|Speckled calcifications in the end part of the pinkie toe bone|Speckled calcifications in the end part of the little toe bone The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th toe. HP:0100087 Triangular epiphyses of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100087 UMLS:C4022334 Triangular end part of the pinky toe bone|Triangular end part of the pinkie toe bone|Triangular end part of the little toe bone HP:0100084 Pseudoepiphyses of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100084 UMLS:C4022337 HP:0100085 Small epiphyses of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100085 UMLS:C4022336 Small end part of the pinky toe bone|Small end part of the pinkie toe bone|Small end part of the little toe bone HP:0100082 Irregular epiphyses of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100082 UMLS:C4022339 Irregular end part of the pinkie toe bone|Irregular end part of the little toe bone|Irregular end part of the pinky toe bone HP:0100083 Ivory epiphyses of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100083 UMLS:C4022338 Increased bone density of end part of the pinky toe bone|Increased bone density of end part of the pinkie toe bone|Increased bone density of end part of the little toe bone Epiphyses of the 5th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. HP:0100080 Enlarged epiphyses of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100080 UMLS:C4022341 Enlarged end part of the little toe bone|Enlarged end part of the pinkie toe bone|Enlarged end part of the pinky toe bone HP:0100081 Fragmentation of the epiphyses of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100081 UMLS:C4022340 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 HP:0100090 Abnormality of the epiphysis of the proximal phalanx of the 2nd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100090 UMLS:C4022331 Abnormality of the end part of the innermost bone of the 2nd toe HP:0100099 Abnormality of the epiphysis of the proximal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100099 UMLS:C4022322 Abnormality of the end part of the innermost bone of the pinky toe|Abnormality of the end part of the innermost bone of the little toe|Abnormality of the end part of the innermost bone of the pinkie toe HP:0100097 Abnormality of the epiphysis of the distal phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100097 UMLS:C4022324 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 HP:0100098 Abnormality of the epiphysis of the middle phalanx of the 5th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100098 UMLS:C4022323 Abnormality of the end part of the middle bone of the pinky 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 pinkie toe HP:0100095 Abnormality of the epiphysis of the middle phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100095 UMLS:C4022326 Abnormality of the end part of the middle bone of the 4th toe HP:0100096 Abnormality of the epiphysis of the proximal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100096 UMLS:C4022325 Abnormality of the end part of the innermost bone of the 4th toe HP:0100093 Abnormality of the epiphysis of the proximal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100093 UMLS:C4022328 Abnormality of the end part of the innermost bone of the 3rd toe HP:0100094 Abnormality of the epiphysis of the distal phalanx of the 4th toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100094 UMLS:C4022327 Abnormality of the end part of the outermost bone of the 4th toe HP:0100091 Abnormality of the epiphysis of the distal phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100091 UMLS:C4022330 Abnormality of the end part of the outermost bone of the 3rd toe HP:0100092 Abnormality of the epiphysis of the middle phalanx of the 3rd toe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0100092 UMLS:C4022329 Abnormality of the end part of the middle bone of the 3rd toe HP:0500097 Stool xenobiotic biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500097 Presence of xenobiotic in stool. HP:0500098 Meconium xenobiotic biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500098 Presence of a xenobiotic in meconium. HP:0500095 Food-induced anaphylaxis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500095 Food-induced anaphylaxis is a severe, potentially fatal, systemic allergic reaction that occurs suddenly after contact with an allergy-causing food. HP:0500096 Venom-induced anaphylaxis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500096 A form of anaphylaxis that is triggered by exposure to venom. HP:0500099 Hair xenobiotic biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500099 Presence of xenobiotic in hair. HP:0500086 Optic nerve gray crescent biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500086 Temporal gray pigmentary crescent|Optic nerve grey crescent Having a characteristic appearance of a slate gray area of pigmentation within the disc margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas. HP:0500087 Peripapillary atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500087 Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve. HP:0500088 Foveal depigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500088 Loss of pigment in the fovea centralis. HP:0500089 Optic nerve sheath meningioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500089 A benign tumour of meningothelial cells of the meninges that usually occurs in middle age. It is typically unilateral and there is an association with neurofibromatosis type 2. HP:0500090 Periocular capillary hemangioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500090 Peri-ocular capillary hemangioma A capillary hemangioma surrounding the eyeball but within the orbit. HP:0500093 Food allergy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500093 Food allergy|IgE-mediated food allergy|Immunoglobulin E-mediated food allergy Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods. HP:0500094 Latex allergy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500094 Latex allergy is an IgE-mediated immediate hypersensitivity response to natural rubber latex (NRL) protein with a variety of clinical signs ranging from contact urticaria, angioedema, asthma, and anaphylaxis. HP:0500091 Lymphangioma of the orbit biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500091 A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage. HP:0500092 Orbital rhabdomyosarcoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500092 A mesenchymal tumour that is considered to be the commonest primary orbital malignancy in children. Histologically, it may be differentiated into embryonal, alveolar, and pleomorphic types. It is usually intraconal or within the superior orbit. HP:0500075 Dissociated horizontal deviation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500075 A change in horizontal ocular alignment, unrelated to accommodation, that is brought about solely by a change in the balance of visual input from the two eyes. HP:0500076 Alternating hypertropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500076 A type of vertical tropia in which, when one eye is fixing, the other eye is deviated upwards. HP:0500073 Abnormal ocular alignment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500073 Any deviation from the normal ocular alignment. HP:0500074 Dissociated vertical deviation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500074 An incomitant tendency for an occluded eye to elevate and extort which resolves on uncovering. HP:0500079 Alternating hypophoria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500079 A type of vertical phoria in which, in dissociation, the occluded eye deviates downwards. HP:0500077 Alternating hyperphoria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500077 A type of vertical phoria in which, in dissociation, the occluded eye deviates upwards. HP:0500078 Alternating hypotropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500078 A type of vertical tropia in which, when one eye is fixing, the other eye is deviated downwards. HP:0500081 Pseudophakia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500081 The term pseudophakia refers to having an artificial lens implanted after the natural eye lens has been removed. During cataract surgery the natural cloudy lens is replaced by an pseudophakia intraocular lens (IOL). HP:0500064 Retinopathy of prematurity threshold biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500064 ROP threshold A retinopathy with a 50% likelihood of progressing to retinal detachment. Threshold disease is considered to be present when stage 3 retinopathy of prematurity (ROP) is present in either zone I or zone II, with at least 5 continuous or 8 total clock hours of disease, and the presence of plus disease. HP:0500065 Retinopathy of prematurity prethreshold biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500065 ROP prethreshold High risk patients who were in Zone 1 (no Plus or stage 3) or Zone 2 with Plus or stage 3 but not both. HP:0500062 Retinopathy of prematurity plus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500062 ROP plus Venous dilatation and arteriolar tortuosity of the posterior retinal vessels and may later increase in severity to include iris vascular engorgement, poor pupillary dilatation (rigid pupil), and vitreous haze. This definition has been further refined in the later clinical trials in which the diagnosis of plus disease could be made if sufficient vascular dilatation and tortuosity are present in at least 2 quadrants of the eye. HP:0500063 Retinopathy of prematurity pre-plus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500063 ROP pre-plus As vascular abnormalities of the posterior pole that are insufficient for the diagnosis of plus disease but that demonstrate more arterial tortuosity and more venous dilatation than normal. HP:0500069 Paralytic ectropion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500069 A type of ectropion associated with orbicularis muscle weakness caused by cranial nerve VII palsy. HP:0500066 Latent myopia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500066 The difference between total and manifest myopia. HP:0006706 Cystic liver disease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006706 MSH:C536330|SNOMEDCT_US:72925005|UMLS:C0158683 HP:0006707 Abnormality of the hepatic vasculature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006707 UMLS:C4024994 Abnormality of liver blood vessels|Abnormality of the liver vasculature An abnormality of the hepatic vasculature. HP:0006709 Aplasia/Hypoplasia of the nipples biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006709 UMLS:C3150086 Absent/small nipples|Nipples absent or rudimentary|Absent/rudimentary nipples|Absent/underdeveloped nipples HP:0006702 Coronary artery dissection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006702 UMLS:C1852540|MSH:C565153 Acute occurrence of a dissection (tear within the tunica intima and entry of blood into the tunica media) of a coronary artery. HP:0006703 Aplasia/Hypoplasia of the lungs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006703 UMLS:C4024996 Absent/underdeveloped lungs|Absent/small lungs HP:0006704 Abnormal coronary artery morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006704 Fyler:3100|SNOMEDCT_US:28574005|UMLS:C0158623 Any structural abnormality of the coronary arteries. HP:0006705 Abnormal atrioventricular valve morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006705 UMLS:C4024995 Abnormality of the atrioventricular valves An abnormality of an atrioventricular valve. HP:0500072 Absolute eccentric fixation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500072 Eccentric fixation in which the angle of eccentricity equals the objective angle of deviation. HP:0500070 Conjunctival dermolipoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500070 A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus. HP:0500053 Retinopathy of prematurity stage 4 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500053 ROP stage 4 Scar tissue that forms a continuous sheet coming up from the edge of the vascularized retina. This scar tissue can grow toward the vitreous base/posterior lens capsule resulting in traction, distortion, and even detachment. HP:0500054 Retinopathy of prematurity stage 4a biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500054 ROP stage 4a A detachment that involves the peripheral retina that does not extend into the macula. HP:0500051 Retinopathy of prematurity stage 2 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500051 ROP stage 2 The accumulating neovascularization thickens and manifests as a linear bump. The neovascularization remains along the surface of the retina and does not extend off the retina into the cortical vitreous. HP:0500052 Retinopathy of prematurity stage 3 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500052 ROP stage 3 The neovascularization accumulates at the edge of the vascularized retina and extends into the vitreous (also called extra retinal fibrosis proliferation). In cases of Zone 2 and Zone 3, this may be sausage shaped. In more posterior Zone 1 disease, the stage 3 can appear as a direct extension of the normal retinal vessels but extending tangentially over the avascular retina. HP:0500057 Retinopathy of prematurity stage 5a biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500057 ROP stage 5a An open funnel detachment of the retina with generally traction in all four quadrants. HP:0500058 Retinopathy of prematurity stage 5b biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500058 ROP stage 5b A closed funnel detachment of the retina with generally traction in all four quadrants. HP:0500055 Retinopathy of prematurity stage 4b biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500055 ROP 4b A detachment that involves the peripheral retina that involves the macula itself. The detachment usually starts in the temporal periphery although can also involve the nasal retina as well. HP:0500056 Retinopathy of prematurity stage 5 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500056 ROP stage 5 Funnel detachment from the retina with generally traction in all four quadrants. HP:0500059 Retinopathy of prematurity zone I biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500059 ROP zone 1 Retinopathy which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula. HP:0500060 Retinopathy of prematurity zone II biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500060 ROP zone II Retinopathy which extends centrifugally from the edge of zone I to the nasal ora serrata. HP:0500061 Retinopathy of prematurity zone III biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500061 ROP zone III Retinopathy which is a residual crescent of retina anterior to zone II. HP:0500042 Latent hypermetropia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500042 Latent hyperopia A term to describe when farsightedness is masked when the accommodative muscles are used to increase the focusing power of the eye. HP:0500043 Eyelid retraction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500043 With the eyes in primary position, the sclera is visible above the superior corneal limbus. HP:0500040 Dermolipoma of the conjunctiva biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500040 Conjunctival lipodermoid A benign tumor composed of adipose tissue and dense connective tissue usually located near the temporal fornix. HP:0500041 Myopic astigmatism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500041 A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest. HP:0500046 Seborrhoeic blepharitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500046 Inflamation of the eyelid due to overactivity of the sebaceous gland. HP:0500047 Nasolacrimal sac lymphoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500047 A type of lymphoma that involves the nasolacrimal sac. HP:0500044 Upper eyelid retraction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500044 An elevation of the eyelid above the normal level in the primary position. HP:0500045 Collier's sign biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500045 A unilateral or bilateral eyelid retraction due to midbrain lesions. HP:0500048 Delayed canalization of nasolacrimal duct biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500048 A very common condition in which the extreme end of the nasolacrimal duct underneath the inferior turbinate fails to complete its canalization in the newborn period. HP:0500049 Retinopathy of prematurity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500049 An avascular or abnormally vascularized retina that occurs in premature infants and can lead to blindness. HP:0500050 Retinopathy of prematurity stage 1 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500050 ROP stage 1 The retinal vessels stop and then a linear flat white line is present that usually runs the circumference of the vascular retina. HP:0500273 Increased proportion of immature gamma-delta T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500273 Increased proportion of immature gamma-delat T lymphocytes|Elevated proportion of immature gamma-delta T cells|Increased proportion of immature gamma-delta T-lymphocytes|Increased proportion of immature gamma-delta T-cells Increased proportion of immature gamma-delta T cells relative to the total number of T cells. HP:0500274 Decreased proportion of immature gamma-delta T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500274 Decreased proportion of immature gamma-delta T-cells|Decreased proportion of immature gamma-delta T-lymphocytes|Reduced proportion of immature gamma-delta T cells|Decreased proportion of immature gamma-delta T lymphocytes Decreased proportion of immature gamma-delta T cells relative to the total number of T cells. HP:0500271 Decreased proportion of gamma-delta T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500271 Decreased proportion of gamma-delta T-lymphocytes|Decreased proportion of gamma-delta T-cells|Decreased proportion of gammadelta T cells|Decreased proportion of gamma-delta T lymphocytes|Reduced proportion of gamma-delta T cells Decreased proportion of gamma-delta T cells relative to the total number of T cells. HP:0500272 Abnormal proportion of immature gamma-delta T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500272 Abnormal proportion of immature gamma-delta T lymphocytes|Abnormal proportion of immature gamma-delta T-lymphocytes|Abnormal proportion of immature gamma-delta T-cells Abnormal proportion of immature gamma-delta T cells relative to the total number of T cells. HP:0500262 Atrichia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500262 The most dramatic and severe form of hair loss characterized by an absence of hair follicles. HP:0500263 Abnormal helper T cell proportion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500263 Abnormal proportion of circulating T-helper cells Abnormal proportion of helper T cells relative to the total number of T cells. HP:0500260 Triggered by head trauma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500260 Head trauma triggered symptoms Applies to a sign or symptom that is provoked or brought about by exposure to a head trauma. HP:0500261 Triggered by anesthetics biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500261 Anesthetics trigger episodes|Triggered by anaesthetics|Anesthetics triggered symptoms Applies to a sign or symptom that is provoked or brought about by exposure to anesthetics. HP:0500266 Decreased proportion of CD8-positive, alpha-beta TEMRA T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500266 Decreased proportion effector memory CD8-positive, alpha-beta T cells, terminally differentiated An decreased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative. HP:0500267 Abnormal proportion of CD4-positive helper T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500267 An abnormal proportion of circulating CD4-positive helper T cells relative to total T cell count. HP:0500264 Increased helper T cell proportion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500264 Elevated helper T cell proportion|Increased proportion T-helper cells Increased proportion of helper T cells relative to the total number of T cells. HP:0500265 Increased proportion of CD8-positive, alpha-beta TEMRA T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500265 Increased proportion of effector memory CD8-positive, alpha-beta T cells, terminally differentiated An increased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative. HP:0500269 Abnormal proportion of gamma-delta T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500269 Abnormal proportion of gamma-delta T-lymphocytes|Abnormal proprotion of gamma-delta T lymphocytes|Abnormal proportion of gammadelta T cells Abnormal proportion of gamma-delta T cells relative to the total number of T cells. HP:0500270 Increased proportion of gamma-delta T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500270 Increased proportion of gamma-delta T-lymphocytes|Increased proportion of gamma-delta T-cells|Increased proportion of gammadelta T cells|Increased proportion of gamma-delta T lymphocytes|Elevated proportion of gamma-delta T cells Increased proportion of gamma-delta T cells relative to the total number of T cells. HP:0500251 Abnormal urine sebacic acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500251 Abnormal urine decanedioic acid concentration Abnormal concentration of sebacic acid in the urine. HP:0500252 Increased urine sebacic acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500252 Increased urine decanedioic acid concentration Elevated concentration of sebacic acid in the urine. HP:0500250 Increased circulating ethanolamine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500250 High ethanolamine levels in the blood Abnormally increased levels of ethanolamine in circulation. HP:0500255 Increased level of hexanoylglycine in urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500255 Elevated urinary N-hexanoylglycine concentration Elevated concentration of hexanoylglycine in the urine. HP:0500256 Abnormal urine isobutyrylglycine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500256 Abnormal urinary isobutyrylglycine levels Abnormal concentration of isobutyrylglycine in the urine. HP:0500253 Increased level of gamma-aminobutyric acid in urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500253 Increased urinary excretion of gamma-aminobutyric acid (GABA) Elevated concentration of gamma-aminobutyric acid in the urine. HP:0500254 Abnormal urine hexanoylglycine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500254 Abnormal urinary N-hexanoylglycine levels Abnormal concentration of hexanoylglycine in the urine. HP:0500259 Abnormal oxygen level in cord blood biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500259 Abnormal oxygen amount in umbilical cord blood|Abnormal O2 level in cord blood|Abnormal cord blood oxygen levels An abnormal level of blood oxygen in the cord blood. HP:0500257 Increased urine isobutyrylglycine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500257 High urinary isobutyrylglycine levels Elevated concentration of isobutyrylglycine in the urine. HP:0500258 Abnormal carbon dioxide level in cord blood biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500258 Abnormal umbilical cord blood levels of carbon dioxide|Abnormal CO2 level in cord blood Abnormal amount of carbon dioxide in umbilical cord blood HP:0500240 Abnormal CSF carnosine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500240 Abnormal carnosine levels in cerebrospinal fluid Any deviation from the normal concentration of carnosine in the cerebrospinal fluid. HP:0500241 Abnormal CSF homocarnosine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500241 Abnormal homocarnosine levels in cerebrospinal fluid Any deviation from the normal concentration of homocarnosine in the cerebrospinal fluid. HP:0500244 Increased CSF ornithine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500244 High ornithine levels in cerebrospinal fluid Abnormally increased levels of ornithine in cerebrospinal fluid. HP:0500245 Abnormal CSF citrulline concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500245 Abnormal citrulline levels in cerebrospinal fluid Any deviation from the normal concentration of citrulline in the cerebrospinal fluid. HP:0500242 Increased CSF homocarnosine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500242 High homocarnosine levels in cerebrospinal fluid Abnormally increased levels of homocarnosine in cerebrospinal fluid. HP:0500243 Abnormal CSF ornithine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500243 Abnormal ornithine levels in cerebrospinal fluid Any deviation from the normal concentration of ornithine in the cerebrospinal fluid. HP:0500248 Increased CSF alpha-aminobutyrate concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500248 High alpha-aminobutyrate levels in cerebrospinal fluid Abnormally increased levels of alpha-aminobutyrate in cerebrospinal fluid. HP:0500249 Abnormal circulating ethanolamine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500249 Abnormal ethanolamine levels in the blood Any deviation from the normal concentration of ethanolamine in circulation. HP:0500246 Increased CSF citrulline concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500246 High citrulline levels in cerebrospinal fluid Abnormally increased levels of citrulline in cerebrospinal fluid. HP:0500247 Abnormal CSF alpha-aminobutyrate concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500247 Abnormal alpha-aminobutyrate levels in cerebrospinal fluid Any deviation from the normal concentration of alpha-aminobutyrate in the cerebrospinal fluid. HP:0500230 Increased CSF glycine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500230 High glycine levels in cerebrospinal fluid Abnormally increased levels of glycine in cerebrospinal fluid. HP:0500233 Increased CSF alanine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500233 High alanine levels in cerebrospinal fluid Abnormally increased levels of alanine in cerebrospinal fluid. HP:0500234 Decreased CSF alanine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500234 Low alanine levels in cerebrospinal fluid Abnormally decreased levels of alanine in cerebrospinal fluid. HP:0500231 Abnormal CSF pyruvate family amino acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500231 Abnormal pyruvate-family amino acid levels in cerebrospinal fluid Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid. HP:0500232 Abnormal CSF alanine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500232 Abnormal alanine levels in cerebrospinal fluid Any deviation from the normal concentration of alanine in the cerebrospinal fluid. HP:0500237 Decreased CSF histidine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500237 Low histidine levels in cerebrospinal fluid Abnormally decreased levels of histidine in cerebrospinal fluid. HP:0500238 Abnormal CSF albumin concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500238 Abnormal albumin levels in cerebrospinal fluid Any deviation from the normal concentration of albumin in the cerebrospinal fluid. HP:0500235 Abnormal CSF histidine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500235 Abnormal histidine levels in cerebrospinal fluid Any deviation from the normal concentration of histidine in the cerebrospinal fluid. HP:0500236 Increased CSF histidine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500236 High histidine levels in cerebrospinal fluid Abnormally increased levels of histidine in cerebrospinal fluid. HP:0500239 Increased CSF albumin concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500239 High albumin levels in cerebrospinal fluid HP:0500222 Increased CSF tryptophan concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500222 High tryptophan levels in cerebrospinal fluid Abnormally increased levels of tryptophan in cerebrospinal fluid. HP:0500223 Increased CSF phenylalanine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500223 High phenylalanine levels in cerebrospinal fluid Abnormally increased levels of phenylalanine in cerebrospinal fluid. HP:0500220 Increased CSF tyrosine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500220 High tyrosine levels in cerebrospinal fluid Abnormally increased levels of tyrosine in cerebrospinal fluid. HP:0500221 Decreased CSF tyrosine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500221 Low tyrosine levels in the cerebrospinal fluid Abnormally decreased levels of tyrosine in cerebrospinal fluid. HP:0500226 Abnormal CSF serine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500226 Abnormal serine levels in cerebrospinal fluid Any deviation from the normal concentration of serine in the cerebrospinal fluid. HP:0500227 Increased CSF serine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500227 High serine levels in cerebrospinal fluid Abnormally increased levels of serine in cerebrospinal fluid. HP:0500224 Decreased CSF phenylalanine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500224 Low phenylalanine levels in cerebrospinal fluid Abnormally decreased levels of phenylalanine in cerebrospinal fluid. HP:0500225 Abnormal CSF serine family amino acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500225 Abnormal serine-family amino acid levels in cerebrospinal fluid Any deviation from the normal concentration of serine-family amino acids in the cerebrospinal fluid. HP:0500228 Decreased CSF serine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500228 Low serine levels in cerebrospinal fluid Abnormally decreased levels of serine in cerebrospinal fluid. HP:0500229 Abnormal CSF glycine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500229 Abnormal glycine levels in cerebrospinal fluid. Any deviation from the normal concentration of glycine in the cerebrospinal fluid. HP:0500211 Abnormal CSF threonine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500211 Abnormal threonine levels in cerebrospinal fluid Any deviation from the normal concentration of threonine in the cerebrospinal fluid. HP:0500212 Increased CSF threonine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500212 High threonine levels in cerebrospinal fluid Abnormally increased levels of threonine in cerebrospinal fluid. HP:0500210 Increased CSF methionine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500210 High methionine levels in cerebrospinal fluid Abnormally increased levels of methionine in cerebrospinal fluid. HP:0500215 Abnormal CSF phenylalanine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500215 Abnormal phenylalanine levels in cerebrospinal fluid Any deviation from the normal concentration of phenylalanine in the cerebrospinal fluid. HP:0500216 Abnormal CSF aspartate concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500216 Abnormal aspartic acid levels in cerebrospinal fluid|Abnormal CSF aspartic acid concentration Any deviation from the normal concentration of aspartic acid in the cerebrospinal fluid. HP:0500213 Decreased CSF threonine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500213 Low threonine levels in the cerebrospinal fluid Abnormally decreased levels of threonine in cerebrospinal fluid. HP:0500214 Abnormal CSF aromatic amino acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500214 Abnormal aromatic amino acid levels in cerebrospinal fluid Any deviation from the normal concentration of aromatic amino acids in the cerebrospinal fluid. HP:0500219 Abnormal CSF tyrosine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500219 Abnormal tyrosine levels in cerebrospinal fluid Any deviation from the normal concentration of tyrosine in the cerebrospinal fluid. HP:0500217 Increased CSF aspartate concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500217 Increased CSF aspartic acid concentration|High aspartic acid levels in cerebrospinal fluid Abnormally increased levels of aspartic acid in cerebrospinal fluid. HP:0500218 Abnormal CSF tryptophan concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500218 Abnormal tryptophan levels in cerebrospinal fluid Any deviation from the normal concentration of tryptophan in the cerebrospinal fluid. HP:0500200 Increased CSF glutamate concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500200 High glutamic acid levels in cerebrospinal fluid Abnormally increased levels of glutamic acid in cerebrospinal fluid. HP:0500201 Decreased CSF glutamate concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500201 Low glutamic acid levels in cerebrospinal fluid Abnormally decreased levels of glutamic acid in cerebrospinal fluid. HP:0500204 Decreased CSF arginine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500204 Low arginine levels in cerebrospinal fluid Abnormally decreased levels of arginine in cerebrospinal fluid. HP:0500205 Abnormal CSF aspartate family amino acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500205 Abnormal aspartate-family amino acid levels in cerebrospinal fluid Any deviation from the normal concentration of aspartate-family amino acids in the cerebrospinal fluid. HP:0500202 Abnormal CSF arginine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500202 Abnormal arginine levels in cerebrospinal fluid Any deviation from the normal concentration of arginine in the cerebrospinal fluid. HP:0500203 Increased CSF arginine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500203 High arginine levels in cerebrospinal fluid Abnormally increased levels of arginine in cerebrospinal fluid. HP:0500208 Increased CSF lysine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500208 High lysine levels in cerebrospinal fluid Abnormally increased levels of lysine in cerebrospinal fluid. HP:0500209 Abnormal CSF methionine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500209 Abnormal methionine levels in cerebrospinal fluid Any deviation from the normal concentration of methionine in the cerebrospinal fluid. HP:0500206 Abnormal CSF lysine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500206 Abnormal lysine levels in cerebrospinal fluid Any deviation from the normal concentration of lysine in the cerebrospinal fluid. HP:0500207 Decreased CSF lysine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500207 Low lysine levels in cerebrospinal fluid Abnormally decreased levels of lysine in cerebrospinal fluid. HP:0041226 Fractured distal tarsal bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041226 bone distal tarsal bone A partial or complete breakage of the distal tarsal bone. HP:0041227 Fractured distal tarsal bone 2 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041227 bone distal tarsal bone 2 A partial or complete breakage of the distal tarsal bone 2. HP:0041224 Fractured manual digit bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041224 bone manual digit bone A partial or complete breakage of the manual digit bone. HP:0041225 Fractured metacarpal bone of digit 1 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041225 bone metacarpal bone of digit 1 A partial or complete breakage of the metacarpal bone of digit 1. HP:0004280 Irregular ossification of hand bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004280 UMLS:C4025374 Irregular maturation of hand bones HP:0041228 Fractured distal tarsal bone 3 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041228 bone distal tarsal bone 3 A partial or complete breakage of the distal tarsal bone 3. HP:0030572 Pinhole visual acuity 0.4 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030572 UMLS:C4073045 HP:0030573 Pinhole visual acuity 0.5 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030573 UMLS:C4073046 HP:0030574 Pinhole visual acuity 0.6 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030574 UMLS:C4073047 HP:0030575 Pinhole visual acuity 0.7 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030575 UMLS:C4073048 HP:0030570 Pinhole visual acuity 0.2 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030570 UMLS:C4073043 HP:0030571 Pinhole visual acuity 0.3 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030571 UMLS:C4073044 HP:0004279 Short palm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004279 UMLS:C1843108 Hypoplastic hands|Short palms|Short hands|Short palm Short palm. HP:0004278 Synostosis involving bones of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004278 UMLS:C4020831 Fused hand bones An abnormal union between bones or parts of bones of the hand. HP:0030576 Pinhole visual acuity 0.8 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030576 UMLS:C4073049 HP:0030577 Pinhole visual acuity 0.9 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030577 UMLS:C4073050 HP:0030578 Pinhole visual acuity 1.0 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030578 UMLS:C4073051 HP:0030579 Pinhole visual acuity 1.1 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030579 UMLS:C4073052 HP:0004273 Cupped metaphyses of hand bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004273 UMLS:C4025377 Cupped metaphysis of hand bones|Cupped wide portion of hand bones HP:0004272 Cortical thinning of hand bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004272 UMLS:C4025378 HP:0004271 Cortical thickening of hand bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004271 UMLS:C4025379 HP:0004277 Fractured hand bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004277 UMLS:C0435632|SNOMEDCT_US:20511007 Broken hand bones|Fractured hand bones HP:0041222 Fractured fibula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041222 Fibula fracture|bone fibula|Broken fibula|Fracture of the fibula A partial or complete breakage of the fibula. HP:0004276 Exostoses of hand bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004276 UMLS:C4025375 Abnormal formation of new bone on the surface of a bone of the hand. HP:0041223 Fractured metatarsal bone of digit 5 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041223 bone metatarsal bone of digit 5 A partial or complete breakage of the metatarsal bone of digit 5. HP:0041220 Fractured facial bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041220 bone facial bone A partial or complete breakage of the facial bone. HP:0004275 Duplication of hand bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004275 UMLS:C3276746 Duplication of hand bones HP:0004274 Deficient ossification of hand bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004274 UMLS:C4280534|UMLS:C4025376 Deficient maturation of hand bones HP:0041221 Fractured head of femur biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041221 bone head of femur A partial or complete breakage of the head of femur. HP:0041237 Fractured patella biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041237 bone patella A partial or complete breakage of the patella. HP:0041235 Fractured hindlimb bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041235 bone hindlimb bone A partial or complete breakage of the hindlimb bone. HP:0041236 Fractured middle phalanx of manus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041236 bone middle phalanx of manus A partial or complete breakage of the middle phalanx of manus. HP:0004291 Stippled calcification of hand bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004291 UMLS:C4025365 HP:0004290 Sclerosis of hand bones with transverse striations biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004290 UMLS:C4025366 HP:0041239 Fractured manual digit 1 phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041239 bone manual digit 1 phalanx A partial or complete breakage of the manual digit 1 phalanx. HP:0030583 Pinhole visual acuity 3.0 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030583 UMLS:C4073056 HP:0030584 Color vision test abnormality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030584 UMLS:C4073057 Colour vision test abnormality HP:0030585 Red desaturation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030585 UMLS:C4073058 HP:0030586 Abnormal Ishihara plate test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030586 UMLS:C4073059 HP:0030580 Pinhole visual acuity 1.2 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030580 UMLS:C4073053 HP:0030581 Pinhole visual acuity 1.3 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030581 UMLS:C4073054 HP:0030582 Pinhole visual acuity 2.0 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030582 UMLS:C4073055 HP:0004289 Sclerotic foci in hand bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004289 UMLS:C4025367 HP:0030587 Abnormal Hardy-Rand-Rittler plate test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030587 UMLS:C4073060 HP:0030588 Abnormal visual field test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030588 UMLS:C0854021 Abnormal result of a test designed to test an individual's central and peripheral vision by determining the ability of the individual to perceive objects at differing locations of the visual field. HP:0030589 Abnormal confrontational visual field test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030589 UMLS:C4073061 HP:0004284 Notched hand bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004284 UMLS:C4025372 Notched hand bones HP:0041230 Fractured metatarsal bone of digit 4 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041230 bone metatarsal bone of digit 4 A partial or complete breakage of the metatarsal bone of digit 4. HP:0004283 Narrow palm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004283 UMLS:C1857632 Narrow hands|Narrow palm|Narrow hand 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. HP:0004281 Irregular sclerosis of hand bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004281 UMLS:C4025373 HP:0004288 Pseudoepiphyses of hand bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004288 UMLS:C4025368 HP:0041233 Fractured ilium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041233 bone ilium A partial or complete breakage of the ilium. HP:0004287 Pointed hand bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004287 UMLS:C4025369 Pointed hand bones HP:0041234 Fractured bone of jaw biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041234 bone bone of jaw A partial or complete breakage of the bone of jaw. HP:0004286 Patchy sclerosis of hand bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004286 UMLS:C4025370 Uneven increase in bone density in hand bones HP:0041231 Fractured metatarsal bone of digit 1 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041231 bone metatarsal bone of digit 1 A partial or complete breakage of the metatarsal bone of digit 1. HP:0041232 Fractured skeleton of manual acropodium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041232 bone skeleton of manual acropodium A partial or complete breakage of the skeleton of manual acropodium. HP:0004285 Overmodelled hand bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004285 UMLS:C4025371 HP:0041248 Fractured carpal bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041248 Wrist fracture|bone carpal bone|Fractured wrist|Carpal bone fracture|Broken wrist A partial or complete breakage of the carpal bone. HP:0041249 Fractured nose biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041249 bone nose A partial or complete breakage of the nose. HP:0041246 Fractured sternum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041246 bone sternum A partial or complete breakage of the sternum. HP:0041247 Fractured tarsal bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041247 bone tarsal bone A partial or complete breakage of the tarsal bone. HP:0030594 Abnormal automated kinetic perimetry test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030594 UMLS:C4073066 HP:0030595 Abnormal static automated perimetry test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030595 UMLS:C4073067 HP:0030596 Abnormal Humphrey SITA 30-2 perimetry test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030596 UMLS:C4073068 HP:0030597 Abnormal Humphrey SITA 24-2 perimetry test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030597 UMLS:C4073069 HP:0030590 Abnormal Amsler grid test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030590 UMLS:C4073062 HP:0030591 Abnormal kinetic perimetry test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030591 UMLS:C4073063 HP:0030592 Abnormal static perimetry test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030592 UMLS:C4073064 HP:0030593 Abnormal manual kinetic perimetry test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030593 UMLS:C4073065 HP:0004259 Abnormality of the hamate bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004259 UMLS:C4025386 HP:0004258 Small trapezoid bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004258 UMLS:C4025387 Underdevelopment of the trapezoid. HP:0004257 Delayed ossification of the trapezoid bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004257 UMLS:C4021668 Delayed maturation of the trapezoid bone Formation of bone tissue of trapezoid is less than expected for age. HP:0004256 Abnormality of the trapezoid bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004256 UMLS:C4025388 HP:0005587 Profuse pigmented skin lesions biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005587 UMLS:C1834424 HP:0030598 Abnormal Humphrey SITA 10-2 perimetry test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030598 UMLS:C4073070 HP:0005588 Patchy palmoplantar keratoderma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005588 UMLS:C4021633 Palmoplantar keratoderma, patchy A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected. HP:0030599 Abnormal Estermann grid perimetry test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030599 UMLS:C4073071 HP:0005583 Tubular basement membrane disintegration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005583 UMLS:C1968618 Disintegration of the tubular basement membrane DIsruption and breaking up of the basement membrane of the tubules of the kidney. HP:0004251 Lunate-triquetral fusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004251 UMLS:C1867930 Lunotriquetral synostosis Osseous fusion of the lunate and triquetrum. HP:0041240 Fractured phalanx of pes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041240 bone phalanx of pes A partial or complete breakage of the phalanx of pes. HP:0005584 Renal cell carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005584 UMLS:C0007134|SNOMEDCT_US:41607009|SNOMEDCT_US:702391001|NCIT:C2916|MSH:D002292 Hypernephroma|Cancer starting in small tubes in kidneys|Renal carcinoma A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule. HP:0041241 Fractured phalanx of manus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041241 bone phalanx of manus A partial or complete breakage of the phalanx of manus. HP:0004250 Proximally placed lunate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004250 UMLS:C4025391 HP:0005585 Spotty hyperpigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005585 UMLS:C3806179 Patchy hyperpigmentation|Spotty increased pigmentation HP:0005586 Hyperpigmentation in sun-exposed areas biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005586 UMLS:C3805877 Increased pigmentation in sun-exposed areas|Hyperpigmentation of exposed areas HP:0004255 Small trapezium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004255 UMLS:C4025389 Underdevelopment of the trapezium. HP:0041244 Fractured scapula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041244 bone scapula A partial or complete breakage of the scapula. HP:0041245 Fractured shoulder bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041245 bone shoulder bone A partial or complete breakage of the shoulder bone. HP:0004254 Delayed ossification of the trapezium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004254 UMLS:C4021669 Delayed maturation of the trapezium Formation of bone tissue of trapezium is less than expected for age. HP:0005580 Duplication of renal pelvis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005580 UMLS:C1839269 A duplication of the renal pelvis. HP:0004253 Absent trapezium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004253 UMLS:C1847190 Absent trapezium bone HP:0004252 Abnormality of the trapezium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004252 UMLS:C4025390 An anomaly of trapezium. HP:0041243 Fractured proximal phalanx of manus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041243 bone proximal phalanx of manus A partial or complete breakage of the proximal phalanx of manus. HP:0004269 Subluxation of the small joints of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004269 UMLS:C4025380 Partial dislocation of small joints of hand A partial dislocation of some or all of the small joints of the hand. HP:0004268 Osteoarthritis of the small joints of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004268 UMLS:C4025381 HP:0004267 Narrow small joints of the hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004267 UMLS:C4025382 Narrow small joints of the hand HP:0005598 Facial telangiectasia in butterfly midface distribution biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005598 UMLS:C4021632 Butterfly facial telangiectasia Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution. HP:0005599 Hypopigmentation of hair biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0005599 UMLS:C3278401 Loss of hair color|Hair hypopigmentation HP:0004262 Abnormality of the capitate bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004262 UMLS:C4025384 HP:0005595 Generalized hyperkeratosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005595 UMLS:C1969913 Hyperkeratosis, generalized|Generalised hyperkeratosis HP:0004261 Wide hamate bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004261 UMLS:C4021667 Wide unciform bone|Broad hamate bone HP:0004260 Large hamate bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004260 UMLS:C4025385 Large unciform bone HP:0005597 Congenital alopecia totalis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005597 UMLS:C4025175 Loss of all scalp hair with congenital onset. HP:0005590 Spotty hypopigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005590 UMLS:C3806178 Patchy depigmentation|Patchy hypopigmentation|Spotty decreased pigmentation HP:0005592 Giant melanosomes in melanocytes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005592 UMLS:C3806221 Macromelanosomes The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes. HP:0004264 Narrow carpal joint spaces biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004264 UMLS:C4021666 Decreased carpal joint angles HP:0005593 Macular hypopigmented whorls, streaks, and patches biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005593 UMLS:C3806616 HP:0004263 Large capitate bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004263 UMLS:C4025383 HP:0031860 Abnormal heart rate variability biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031860 Any abnormality in the variability of the time interval between successive heartbeats. HP:0031861 Decreased heart rate variability biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031861 Reduced heart rate variability Reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle. HP:0030530 Arcuate scotoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030530 UMLS:C4280302|SNOMEDCT_US:15462009|UMLS:C0271198|MSH:D012607 Arc-shaped blind spot HP:0031862 Increased heart rate variability biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031862 Increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle. HP:0030531 Altitudinal visual field defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030531 UMLS:C4073005 HP:0030536 Unaided visual acuity 0.1 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030536 UMLS:C4073010 HP:0031867 Neck hypertonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031867 Increased passive stiffness or tightness of the neck musculature. HP:0031868 Optic ataxia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031868 Difficulty reaching to visually guided goals in peripheral vision, with the deficit leaves voluntary eye movements largely unaffected. HP:0030537 Unaided visual acuity 0.2 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030537 UMLS:C4073011 HP:0031869 Recurrent joint dislocation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031869 Dislocation of a given joint repeated times. HP:0030538 Unaided visual acuity 0.3 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030538 UMLS:C4073012 HP:0030539 Unaided visual acuity 0.4 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030539 UMLS:C4073013 HP:0031863 Bloodstream infectious agent biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031863 The presence of an infectious agent in the blood circulation. HP:0030532 Visual acuity test abnormality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030532 UMLS:C4073006 HP:0031864 Bacteremia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031864 Presence of viable bacteria in the blood. HP:0030533 Abnormal unaided visual acuity test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030533 UMLS:C4073007 HP:0031865 Abnormal liver physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031865 Abnormal hepatic physiology Any functional anomaly of the liver. HP:0030534 Abnormal best corrected visual acuity test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030534 UMLS:C4073008 HP:0030535 Abnormal pinhole visual acuity test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030535 UMLS:C4073009 HP:0031866 Clasp-knife sign biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031866 Clasp-knife phenomonen refers to increased muscle tone while bending or stretching a limb, whereby there is a sudden relaxation (decrease in resistance) as the muscle continues to be streched. This phenomenon has been likened to opening a clasp knife. HP:0031870 Phosphohydroxylysinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031870 An elevated concentration of phosphohydroxylysine in the urine. HP:0031871 Abnormal Langerhans cell morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031871 Any functional anomaly of Langerhans cells, which are dendritic cells in the epidermis and some other locations. Langerhans cells play roles in immune surveillance and homeostasis. HP:0030540 Unaided visual acuity 0.5 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030540 UMLS:C4073014 HP:0030541 Unaided visual acuity 0.6 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030541 UMLS:C4073015 HP:0031872 Absent Birbeck granules in Langerhans cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031872 Birbeck granules (BG) are cytoplasmic organelles that are only found in Langerhans cells (LC). The function of BG is still not completely understood, although most studies point toward an active role in receptor-mediated endocytosis and participation in the antigen-processing/presenting function of LC. This feature refers to the absence of BG in LC, a feature that can be documented by means of electron microscopy. HP:0030542 Unaided visual acuity 0.7 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030542 UMLS:C4073016 HP:0031873 Early chronotype biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031873 Early sleep onset A tendency towards rising very early in the morning and going to bed early in the evening. HP:0031878 Acromicria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031878 Small hands and feet in proportion to the rest of the body. HP:0030547 Unaided visual acuity 1.2 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030547 UMLS:C4073021 HP:0031879 Abnormal eyelid physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031879 Any functional abnormality of the eyelid. HP:0030548 Unaided visual acuity 1.3 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030548 UMLS:C4073022 HP:0030549 Unaided visual acuity 2.0 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030549 UMLS:C4073023 HP:0030543 Unaided visual acuity 0.8 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030543 UMLS:C4073017 HP:0031874 Late chronotype biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031874 Late sleep onset A tendency towards rising very late in the morning and going to bed late at night. HP:0030544 Unaided visual acuity 0.9 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030544 UMLS:C4073018 HP:0031875 Abnormal hepcidin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031875 Any deviation from the normal concentration of hepcidin in the blood circulation. HP:0030545 Unaided visual acuity 1.0 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030545 UMLS:C4073019 HP:0031876 Decreased hepcidin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031876 An abnormally reduced concentration of hepcidin in the blood circulation. HP:0031877 Elevated hepcidin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031877 An abnormally increased concentration of hepcidin in the blood circulation. HP:0030546 Unaided visual acuity 1.1 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030546 UMLS:C4073020 HP:0041209 Fractured epiphysis of middle phalanx of manus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041209 bone epiphysis of middle phalanx of manus A partial or complete breakage of the epiphysis of middle phalanx of manus. HP:0031881 Decreased tear drainage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031881 A form of watery eye associated with obstruction of the nasolacrimal system. This may arise at the level of the punctum, the canaliculi, the sac or the nasolacrimal duct. HP:0030550 Unaided visual acuity 3.0 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030550 UMLS:C4073024 HP:0031882 Agyria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031882 Agyria diffuse 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. HP:0030551 Visual acuity light perception with projection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030551 UMLS:C4073025 HP:0030552 Visual acuity light perception without projection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030552 UMLS:C4073026 HP:0031883 Increased proinsulin:insulin ratio biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031883 An elevated concentration of proinsulin (the prohormone precursor to insulin) to mature insulin in the circulation. HP:0031884 Abnormal CSF glucose level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031884 A deviation from normal concentration of glucose content in the cerebrospinal fluid. HP:0030553 Visual acuity no light perception biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030553 SNOMEDCT_US:63063006|UMLS:C0442774 HP:0031880 Eyelid laxity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031880 Lid laxity Abnormally lax eyelid associated with tissue relaxation; it can be demonstrated by the eyelid distraction test and/or the eyelid snap test. HP:0030558 Best corrected visual acuity 0.5 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030558 UMLS:C4073031 HP:0031889 Abnormal VLDL cholesterol concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031889 Any deviation from the normal concentration of very-low-density lipoprotein cholesterol in the blood. HP:0030559 Best corrected visual acuity 0.7 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030559 UMLS:C4073032 HP:0031885 Hyperglycorrhachia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031885 Increased CSF glucose Abnormally high glucose concentration in the cerebrospinal fluid. HP:0030554 Best corrected visual acuity 0.1 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030554 UMLS:C4073027 HP:0031886 Abnormal LDL cholesterol concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031886 Abnormal LDLc concentration|Abnormal LDL-C concentration|Abnormal LDL-C level Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation. HP:0030555 Best corrected visual acuity 0.2 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030555 UMLS:C4073028 HP:0031887 Abnormal chylomicron concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031887 Any deviation from the normal circulating concentration of chylomicrons. HP:0030556 Best corrected visual acuity 0.3 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030556 UMLS:C4073029 HP:0030557 Best corrected visual acuity 0.4 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030557 UMLS:C4073030 HP:0031888 Abnormal HDL cholesterol concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031888 Any deviation from the normal concentration of high-density lipoprotein cholesterol (HDL) in the blood. HP:0004295 Abnormality of the gastric mucosa biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004295 UMLS:C4025362 Abnormality of the mucous membrane layer of stomach An abnormality of the gastric mucous membrane. HP:0004294 Subluxation of metacarpal phalangeal joints biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004294 UMLS:C4025363 Partial knuckle dislocation|Subluxation of metacarpophalangeal joints A partial dislocation affecting some or all of the metacarpophalangeal joints. HP:0004293 Synostosis of second metacarpal-trapezoid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004293 UMLS:C4021665 Fusion of second metacarpal-trapezoid Fusion of the second metacarpal-trapezoid. HP:0004292 Undermodelled hand bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004292 UMLS:C4025364 HP:0004299 Hernia of the abdominal wall biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0004299 Fyler:4414|SNOMEDCT_US:128545000|UMLS:C1442978 Herniated abdominal wall The presence of a hernia in the abdominal wall. HP:0041200 Fractured sternal end of clavicle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041200 bone sternal end of clavicle A partial or complete breakage of the sternal end of clavicle. HP:0004298 Abnormality of the abdominal wall biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0004298 UMLS:C4021664 Abnormality of external features of the abdomen|Abnormality of the abdominal wall The presence of any abnormality affecting the abdominal wall. HP:0004297 Abnormality of the biliary system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004297 UMLS:C0940767 An abnormality of the biliary system. HP:0004296 Abnormality of gastrointestinal vasculature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004296 UMLS:C4025361 Abnormality of GI vasculature|Abnormality of GI blood vessels HP:0041215 Fractured fused metatarsal bones 2-4 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041215 bone fused metatarsal bones 2-4 A partial or complete breakage of the fused metatarsal bones 2-4. HP:0041216 Fractured distal epiphysis of distal phalanx of manual digit 1 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041216 bone distal epiphysis of distal phalanx of manual digit 1 A partial or complete breakage of the distal epiphysis of distal phalanx of manual digit 1. HP:0041213 Fractured proximal phalanx of digit 4 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041213 bone proximal phalanx of digit 4 A partial or complete breakage of the proximal phalanx of digit 4. HP:0041214 Fractured proximal phalanx of digit 5 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041214 bone proximal phalanx of digit 5 A partial or complete breakage of the proximal phalanx of digit 5. HP:0041219 Fractured elbow biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041219 bone elbow A partial or complete breakage of the elbow. HP:0041217 Fractured shoulder biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041217 bone shoulder joint A fracture or multiple fractures of the humerus (ball) or the glenoid (socket) of the shoulder joint. HP:0041218 Fractured distal phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041218 bone distal phalanx A partial or complete breakage of the distal phalanx. HP:0030561 Best corrected visual acuity 0.8 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030561 UMLS:C4073034 HP:0030562 Best corrected visual acuity 0.9 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030562 UMLS:C4073035 HP:0030563 Best corrected visual acuity 1.0 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030563 UMLS:C4073036 HP:0030564 Best corrected visual acuity 1.1 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030564 UMLS:C4073037 HP:0031890 Increased urine urobilinogen biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031890 An elevated concentration of urobilinogen in the urine. HP:0031891 Decreased eosinophil count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031891 Abnormal reduction in the count of eosinophils in the blood per volume. HP:0030560 Best corrected visual acuity 0.6 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030560 UMLS:C4073033 HP:0030569 Pinhole visual acuity 0.1 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030569 UMLS:C4073042 HP:0030565 Best corrected visual acuity 1.2 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030565 UMLS:C4073038 HP:0030566 Best corrected visual acuity 1.3 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030566 UMLS:C4073039 HP:0030567 Best corrected visual acuity 2.0 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030567 UMLS:C4073040 HP:0031898 Rouleaux formation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031898 Increased rouleaux formation Increased amount of stacking of erythrocytes into long chains. Rouleaux (singular: rouleau) is derived from a French word that can refer to a stack of coins put into a cylindircal paper roll. Rouleaux formation is observed with increased serum proteins, particularly fibrinogen and globulins, and represents the cause of increased erythrocte sedimentation rate because rouleaux sediment more readily than isolated red blood cells. HP:0030568 Best corrected visual acuity 3.0 LogMAR biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030568 UMLS:C4073041 HP:0031899 Abnormal coagulation factor V activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031899 Abnormal factor V activity Any deviation from the activity of coagulation factor V. HP:0041211 Fractured proximal phalanx of digit 2 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041211 bone proximal phalanx of digit 2 A partial or complete breakage of the proximal phalanx of digit 2. HP:0041212 Fractured proximal phalanx of digit 3 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041212 bone proximal phalanx of digit 3 A partial or complete breakage of the proximal phalanx of digit 3. HP:0041210 Fractured lateral malleolus of fibula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041210 bone lateral malleolus of fibula A partial or complete breakage of the lateral malleolus of fibula. HP:0005525 Spontaneous hemolytic crises biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005525 UMLS:C4025184 HP:0031823 Reduced hypoxanthine-guanine phosphoribosyltransferase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031823 Reduced 6-mercaptopurine phosphoribosyltransferase level|Reduced 6-hydroxypurine phosphoribosyltransferase level|Reduced GMP pyrophosphorylase level Abnormally decreased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. HP:0005526 Lymphoid leukemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005526 SNOMEDCT_US:32280000|UMLS:C0023448|MSH:D007945|SNOMEDCT_US:188725004 Lymphoid leukaemia A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias. HP:0031824 Hepatic mastocytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031824 Liver mast cell infiltration. HP:0006858 Impaired distal proprioception biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006858 UMLS:C4021585 Distal sensory loss of proprioception A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints. HP:0005527 Reduced kininogen activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005527 MSH:C537060|UMLS:C0272340|SNOMEDCT_US:27312002 Fitzgerald factor deficiency|Kininogen deficiency|Williams-Fitzgerald-Flaujeac factor deficiency|Williams factor deficiency Reduction in the amount of kininogen, which functions as a cofactor in the contact phase of the intrinsic blood coagulation cascade. HP:0031825 Freezing of gait biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031825 Freezing gait Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk. HP:0005528 Bone marrow hypocellularity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005528 UMLS:C1855710 Bone marrow hypoplasia|Bone marrow failure|Hypoplastic bone marrow A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat. HP:0006859 Posterior leukoencephalopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006859 UMLS:C4024975 HP:0031826 Abnormal reflex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031826 Any anomaly of a reflex, i.e., of an automatic response mediated by the nervous system (a reflex does not need the intervention of conscious thought to occur). HP:0005521 Disseminated intravascular coagulation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005521 UMLS:C0012739|SNOMEDCT_US:67406007|MSH:D004211 Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels. HP:0006852 Episodic generalized hypotonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006852 UMLS:C4024976 Episodic generalised hypotonia The occurrence of repeated episodes of generalized muscular hypotonia. HP:0031820 Decreased waist to hip ratio biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031820 Decreased waist-hip ratio|Decreased WHR|Decreased waist-to-hip ratio Decreased waist-to-hip ratio (WHR) is a measurement below the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement. HP:0005522 Pyridoxine-responsive sideroblastic anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005522 SNOMEDCT_US:25443007|UMLS:C0272027|SNOMEDCT_US:191260004 Pyridoxine-responsive sideroblastic anaemia A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment. HP:0005523 Lymphoproliferative disorder biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005523 SNOMEDCT_US:84631004|MSH:D008232|SNOMEDCT_US:277466009|UMLS:C0024314|SNOMEDCT_US:77121009|SNOMEDCT_US:414629003 Lymphoproliferative disorders HP:0031821 Abnormal hypoxanthine-guanine phosphoribosyltransferase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031821 Abnormal GPRT level|Abnormal 6-hydroxypurine phosphoribosyltransferase level|Abnormal GMP pyrophosphorylase level Altered level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. HP:0031822 Elevated hypoxanthine-guanine phosphoribosyltransferase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031822 Elevated 6-mercaptopurine phosphoribosyltransferase level|Elevated 6-hydroxypurine phosphoribosyltransferase level|Elevated GMP pyrophosphorylase level Abnormally increased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. HP:0006855 Cerebellar vermis atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006855 UMLS:C0742028 Atrophy of the cerebellar vermis|Atrophy of cerebellar vermis Wasting (atrophy) of the vermis of cerebellum. HP:0005524 Macrocytic hemolytic disease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005524 UMLS:C4025185 HP:0006850 Hypoplasia of the ventral pons biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006850 UMLS:C1843507 Underdeveloped ventral pons Underdevelopment of the ventral portion of the pons. HP:0006851 Symmetric spinal nerve root neurofibromas biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006851 UMLS:C1834236 Spinal nerve root neurofibromas, symmetric, multiple Multiple neurofibromas of the spinal nerve roots with a symmetric distribution. HP:0005520 Chronic disseminated intravascular coagulation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005520 UMLS:C1862184 Chronic consumption coagulopathy|Compensated disseminated intravascular coagulation A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced. HP:0031827 Absent abdominal reflex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031827 Abdominal reflex absent Lack of contraction of abdominal muscles in the quadrant of the abdomen that is stimulated by scraping the skin tangential to or toward the umbilicus. HP:0031828 Abnormal superficial reflex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031828 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. HP:0031829 Absent cremaster reflex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031829 Absent cremasteric 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. HP:0004209 Clinodactyly of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004209 UMLS:C4280538|UMLS:C1850049 Curvature of pinkie finger|Curvature of little finger|Bilateral fifth finger clinodactyly|Fifth finger clinodactyly|Curvature of pinky finger|Clinodactyly of fifth digit|Clinodactyly of the little finger|Bilateral fifth digit clinodactyly|Permanent curving of the pinkie finger Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). HP:0031834 Aortopulmonary collateral arteries biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031834 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. HP:0030503 Macular telangiectasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030503 SNOMEDCT_US:232024000|UMLS:C0339480 Parafoveal telangiectasia|Juxtafoveal telangiectasia HP:0030504 Grouped congenital hypertrophy of retinal pigment epithelium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030504 UMLS:C4072989 Bear track congenital hypertrophy of retinal pigment epithelium HP:0005537 Decreased mean platelet volume biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005537 UMLS:C1096368|UMLS:C1833182 Small platelets|Small platelets size|Small platelet size Average platelet volume below the lower limit of the normal reference interval. HP:0004203 obsolete Short proximal phalanx of the ring finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004203 HP:0031835 Abnormal superoxide dismutase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031835 Abnormal superoxide:superoxide oxidoreductase activity An abnormal level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide. HP:0031836 Increased superoxide dismutase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031836 Increased superoxide:superoxide oxidoreductase activity Increased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide. HP:0030505 Nummular pigmentation of the fundus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030505 UMLS:C4072990 Nummular pigmentation of the retina Clumped pigmentary changes of nummular appearance (i.e., thought to resemble the shape of a coin or multiple coins stuck together) at the level of the retinal pigment epithelium. HP:0004202 obsolete Lytic defects of the proximal phalanx of the ring finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004202 HP:0005539 T cell chronic lymphocytic lymphoma/leukemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005539 UMLS:C4025181 A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent. HP:0031837 Decreased superoxide dismutase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031837 Decreased superoxide:superoxide oxidoreductase activity Decreased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide. HP:0030506 Yellow/white lesions of the retina biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030506 UMLS:C4072991 HP:0004201 obsolete Expanded proximal phalanx of the ring finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004201 HP:0031830 Pinguecula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031830 A pinguecula is a yellowish to brown protruding lesion in the conjunctiva that is easily seen on the nasal and temporal sides of the cornea. HP:0006863 Severe expressive language delay biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006863 SNOMEDCT_US:62221000119105|UMLS:C1851085 A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. HP:0005532 Macrocytic dyserythropoietic anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005532 UMLS:C4025183 Macrocytic dyserythropoietic anaemia HP:0030500 Yellow/white lesions of the macula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030500 UMLS:C4072987 HP:0031831 Decreased serum zinc biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031831 A reduced concentration of zinc in the blood. HP:0004207 Abnormal 5th finger morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004207 UMLS:C4021678 Abnormality of the little finger|Abnormality of the 5th finger|Abnormality of the pinkie finger|Abnormality of the pinky finger An abnormality affecting one or both 5th fingers. HP:0005534 Transient myeloproliferative syndrome biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005534 SNOMEDCT_US:450934005|UMLS:C1834582|MSH:C563551 Transient myeloproliferative disorder|Transient leukemia of Down syndrome|TMD A unique clonal neoplastic disorder that is linked to trisomy 21, is restricted to neonatal period, and spontaneously regresses. It often has characteristics of megakaryocytic lineage and is associated with GATA1 mutations in myeloblasts. HP:0031832 Hypermetric downward saccades biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031832 Overshoot of downward saccadic eye movements. HP:0006865 Sensorimotor polyneuropathy affecting arms more than legs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006865 UMLS:C4024974 HP:0030501 Macular crystals biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030501 UMLS:C4072988 Crystalline deposits in the macula. HP:0031833 Hypometric upward saccades biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031833 Saccadic undershoot of upward saccadic eye movements, i.e., an upward saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object. HP:0006866 Midline central nervous system lipomas biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006866 UMLS:C4024973 Midline CNS lipomas HP:0005535 Exercise-induced hemolysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005535 UMLS:C4025182 A form of hemolytic anemia that can be triggered by exertion. HP:0030502 Retinoschisis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030502 SNOMEDCT_US:44268007|UMLS:C0152439|MSH:D041441 Splitting of the neuroretinal layers of the retina. HP:0005531 Biphenotypic acute leukemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005531 SNOMEDCT_US:128818009|SNOMEDCT_US:278453007|UMLS:C0023464|MSH:D015456 Myeloid/lymphoid leukemia|Acute biphenotypic leukaemia|Biphenotypic acute leukaemia A type of actue leukemia with features characteristic of both the myeloid and lymphoid lineages. These leukemias are for this reason are designated mixed-lineage, hybrid or biphenotypic acute leukemias. HP:0031838 Presence of xenobiotic biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031838 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. HP:0030507 Retinal crystals biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030507 UMLS:C4072992 Crystalline deposits in the retina. HP:0030508 Retinal cavernous hemangioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030508 SNOMEDCT_US:312937006|UMLS:C0730304 Retinal cavernous haemangioma HP:0030509 Retinal racemose hemangioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030509 UMLS:C4072993 Retinal racemose haemangioma HP:0031840 Urine xenobiotic biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031840 The presence of a xenobiotic in urine. HP:0005507 Hemoglobin Barts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005507 UMLS:C3539063 Hb Barts|Haemoglobin Barts Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues. HP:0005508 Monoclonal immunoglobulin M proteinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005508 SNOMEDCT_US:35562000|SNOMEDCT_US:190818004|UMLS:C0024419|MSH:D008258|SNOMEDCT_US:190817009 Waldenstrom macroglobulinemia Presence of a monoclonal immunoglobulin M protein in the serum. HP:0006834 Developmental stagnation at onset of seizures biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006834 UMLS:C1836829 A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy. HP:0031845 Abnormal libido biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031845 Any deviation from the normal sexual drive or desire for sexual activity. HP:0030514 Difficulty adjusting from dark to light biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030514 UMLS:C4072996 HP:0030515 Moderately reduced visual acuity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030515 UMLS:C1301510|SNOMEDCT_US:397542006 Moderate visual loss|Moderate reduction in visual acuity|Moderate vision loss|Moderate visual impairment Moderate reduction of the ability to see defined as visual acuity less than 6/18 (20/60 in US notation; 0.5 in decimal notation) but at least 6/60 (20/200 in US notation; 0.1 in decimal notation). HP:0031846 Femur fracture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031846 MSH:D005264 Femoral fracture A break or crush injury of the thigh bone (femur). HP:0031847 Difficulty walking backward biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031847 Reduced ability to walk (ambulate) in a backwards direction. HP:0005505 Refractory anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005505 SNOMEDCT_US:128845005|MSH:D000753|UMLS:C0002893 Refractory anaemia HP:0030516 Homonymous hemianopia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030516 UMLS:C0271202|SNOMEDCT_US:34063005|MSH:D006423 Homonymous hemianopsia HP:0005506 Chronic myelogenous leukemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005506 UMLS:C0023473|SNOMEDCT_US:63364005|MSH:D015464|SNOMEDCT_US:92818009|DOID:8552 Chronic myelocytic leukemia|Chronic myeloid leukemia|Chronic myelogenous leukaemia A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate. HP:0006837 Congenital Horner syndrome biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006837 UMLS:C1840475|MSH:C564178 A type of Horner syndrome with congenital onset. HP:0031848 Cock-walk gait biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031848 An abnormality of gait that can be observed in individuals with dystonic posture in which the individual walks with an extended trunk and flexed arms, while strutting on the toes without the heels touching the floor. HP:0030517 Heteronymous hemianopia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030517 UMLS:C0271207|SNOMEDCT_US:344104004|SNOMEDCT_US:345121001 Heteronymous hemianopsia HP:0006830 obsolete Severe neonatal hypotonia in males biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006830 HP:0031841 Positive urine methadone test biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031841 Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in urine. HP:0030510 Combined hamartoma of the retinal pigment epithelium and retina biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030510 UMLS:C1862062 HP:0031842 Lymphangiectasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031842 Lymphangiectasia Dilation of the lymphatic vessels, the basic process that may result in the formation of a lymphangioma. HP:0030511 Bradyopsia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030511 UMLS:C1842073|MSH:C564243|SNOMEDCT_US:711163009 Difficulty seeing moving objects Difficulty in seeing moving objects. HP:0031843 Bradyphrenia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031843 Slowness of thought Abnormal slowness of thought processes. HP:0030512 Difficulty adjusting to changes in luminance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030512 UMLS:C4072994 HP:0005502 Increased red cell osmotic fragility biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005502 UMLS:C1849478 Increased erythrocyte osmotic fragility|Increased red cell fragility HP:0031844 Euphoria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031844 A sense of intense joy or happiness that is beyond what would be expected under the given circumstances. HP:0030513 Difficulty adjusting from light to dark biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030513 UMLS:C4072995 HP:0031849 Sleep-wake inversion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031849 A reversal of sleeping habits with a tendency to sleep during the day and to be awake at night. HP:0030518 Congruous homonymous hemianopia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030518 UMLS:C4072997 Congruous hemianopsia HP:0030519 Congruous heteronymous hemianopia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030519 UMLS:C4072998 HP:0031850 Abnormal hematocrit biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031850 Abnormal Hct Any deviation from the normal ratio of the volume of red blood cells to the total volume of blood. HP:0031851 Reduced hematocrit biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031851 Low hematocrit|Reduced Hct A reduction below the normal ratio of the volume of red blood cells to the total volume of blood. HP:0030520 Binasal hemianopia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030520 MSH:D006423|UMLS:C0271208|SNOMEDCT_US:87278000 HP:0005518 Increased mean corpuscular volume biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005518 UMLS:C0855791 Increased MCV|Erythrocyte macrocytosis Larger than normal size of erythrocytes. HP:0006849 Hypodysplasia of the corpus callosum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006849 UMLS:C1850348 HP:0031856 Hobby horse gait biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031856 An abnormal gait characterized by toe walking, stiff legs, and skipping. The gait pattern has some resemblance to cock-walk gait, but affected individuals are able to improve their dystonic gait by walking backward. HP:0030525 Moderate constriction of peripheral visual field biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030525 UMLS:C4073002 Moderate peripheral visual field loss Peripheral visual field constriction with 20-49 degrees binocular visual field preserved. HP:0006846 Acute encephalopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006846 UMLS:C1306587|SNOMEDCT_US:2776000 HP:0030526 Severe constriction of peripheral visual field biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030526 UMLS:C4073003 Severe peripheral visual field loss Peripheral visual field constriction with 10-19 degrees central field preserved. HP:0031857 Ineffective esophageal peristalsis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031857 Reduced or inadequate esophageal peristalsis, with resultant slow passage of contents through the esophagus. HP:0030527 Very severe constriction of peripheral visual field biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030527 UMLS:C4073004 Very severe peripheral visual field loss Peripheral visual field constriction with <10 degrees central field preserved. HP:0031858 Esophageal furrows biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031858 Longitudinal grooves in the surface of the esophagus arranged in a longitudinal fashion (from top to bottom of the esophagus). HP:0030528 Paracentral scotoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030528 MSH:D012607|UMLS:C0271197|SNOMEDCT_US:64418005 HP:0005517 T-cell lymphoma/leukemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005517 UMLS:C4025186 A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas. HP:0005510 Transient erythroblastopenia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005510 UMLS:C4082199 Transient decrease in blood erythrocyte number A transient reduction in the number of erythroblasts in the circulation. HP:0030521 Bitemporal hemianopia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030521 UMLS:C0221184|MSH:D006423|SNOMEDCT_US:61917005 HP:0005511 Heinz body anemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005511 UMLS:C0700299|MSH:C563030 Heinz body anaemia Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells. HP:0031853 Isomerism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031853 Isomerism in the context of the congenitally malformed heart is defined as a situation where some paired structures on opposite sides of the left-right axis of the body are, in morphologic terms, symmetrical mirror images of each other. HP:0030522 Mild constriction of peripheral visual field biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030522 UMLS:C4072999 Mild peripheral visual field loss A diminution of the peripheral visual field whereby at least 50 degrees of central field are preserved in all meridians. HP:0005512 Impaired neutrophil killing of staphylococci biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005512 UMLS:C4025188 A reduction in the ability of neutrophils to kill the gram-positive bacteria, staphylococcus, which is commonly known as staph. HP:0031854 Left Isomerism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031854 Left-sided isomerism A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal left-sided structures. HP:0030523 obsolete Peripheral visual field constriction with 40-50 degrees central field preserved biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030523 HP:0031855 Right isomerism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031855 Right-sided isomerism A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures. HP:0005513 Increased megakaryocyte count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005513 UMLS:C4025187 Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow. HP:0006844 Absent patellar reflexes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006844 UMLS:C0558844|SNOMEDCT_US:274817009 Absent knee jerk reflex Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella. HP:0030524 obsolete Peripheral visual field constriction with 30-39 degrees central field preserved biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030524 HP:0030529 Ring scotoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030529 UMLS:C0438434|MSH:D012607|SNOMEDCT_US:129625005 HP:0004237 Large carpal bones biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0004237 UMLS:C4021671 Large wrist bones|Large carpals Increased size of carpal bones. HP:0004236 Irregular carpal bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004236 UMLS:C4025401 Irregular wrist bones Carpal bones with irregular or fragmented margins. HP:0004235 Comma-shaped carpal bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004235 UMLS:C4025402 Comma-shaped wrist bones HP:0004234 Bone-in-a-bone appearance of carpal bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004234 UMLS:C4025403 Bone-in-a-bone appearance of wrist bones The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones. HP:0005565 Reduced renal corticomedullary differentiation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005565 UMLS:C3807131 Loss of definition of corticomedullary differentiation Reduced differentiation between renal cortex and medulla on diagnostic imaging. HP:0006896 Hypnopompic hallucinations biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006896 MSH:D006212|SNOMEDCT_US:69690008|UMLS:C0424082 HP:0006897 Cranial nerve VI palsy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006897 UMLS:C0271355|SNOMEDCT_US:398963001|MSH:D020434|SNOMEDCT_US:398760006|MSH:C564661|SNOMEDCT_US:398925009 Lateral rectus muscle denervation paresis|Abducens nerve paresis|Abducens nerve palsy|Abducens nerve paralysis HP:0005567 Renal magnesium wasting biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005567 MSH:C537152|UMLS:C1835171 High urine magnesium in the presence of hypomagnesemia. HP:0004239 Proximally placed carpal bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004239 UMLS:C4025399 HP:0006899 Fusion of the cerebellar hemispheres biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006899 UMLS:C1866131 HP:0004238 Lytic defects of carpal bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004238 UMLS:C4025400 HP:0006892 Frontotemporal cerebral atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006892 UMLS:C4021584 Cerebral atrophy, frontotemporal Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum. HP:0005561 Abnormality of bone marrow cell morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005561 UMLS:C0005956|SNOMEDCT_US:127035006|UMLS:C4021634|MSH:D001855 Anomaly of the bone marrow cells|Bone marrow disease An anomaly of the form or number of cells in the bone marrow. HP:0005562 Multiple renal cysts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005562 SNOMEDCT_US:253883006|UMLS:C0431718 Multiple kidney cysts The presence of many cysts in the kidney. HP:0006893 Severely dysplastic cerebellum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006893 UMLS:C4024969 HP:0005563 Decreased numbers of nephrons biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005563 UMLS:C2673888|UMLS:C1841994 Decreased numbers of glomeruli|Oligonephronia A reduction in the count of nephrons per kidney. HP:0006894 Hypoplastic olfactory lobes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006894 UMLS:C1859231 HP:0006895 Lower limb hypertonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006895 UMLS:C1845245 HP:0005564 Absence of renal corticomedullary differentiation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005564 UMLS:C1849765 Absent renal corticomedullary differentiation|Loss of corticomedullary differentiation A lack of differentiation between renal cortex and medulla on diagnostic imaging. HP:0004233 Advanced ossification of carpal bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004233 UMLS:C1849292|UMLS:C4280536 Accelerated wrist bone maturation|Accelerated carpal bone maturation|Precociously ossified carpal bones|Advanced carpal ossification|Advanced carpal bone age Ossification of carpal bones at an abnormally early age. HP:0004232 Accessory carpal bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004232 SNOMEDCT_US:20136007|UMLS:C0265609|SNOMEDCT_US:9181003 Extra wrist bones|Supernumerary carpal bones The presence of more than the normal number of carpal bones. HP:0004231 Carpal bone aplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004231 UMLS:C1836219|UMLS:C4280537 Absent carpal ossification center|Aplastic carpal bone|Absent wrist bone|Absent carpal bone|Missing wrist bone|Absent carpal bones Congenital absence of a carpal bone. HP:0006891 Thick cerebral cortex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006891 UMLS:C4024970 HP:0004230 Subluxation of the proximal interphalangeal joint of the little finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004230 UMLS:C4025404 Partially dislocated innermost hinge joint of pinkie finger|Partially dislocated innermost hinge joint of little finger|Partially dislocated innermost hinge joint of pinky finger A partial dislocation of the proximal interphalangeal joint of the little finger. HP:0005560 Imbalanced hemoglobin synthesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005560 UMLS:C4025177 Imbalanced Hb synthesis|Imbalanced haemoglobin synthesis Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia. HP:0004248 Abnormality of the lunate bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004248 UMLS:C4025393 HP:0004247 Small scaphoid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004247 UMLS:C4025394 Underdevelopment of the scaphoid. HP:0004246 Delayed ossification of the scaphoid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004246 UMLS:C4021670 Delayed maturation of the scaphoid Formation of bone tissue of scaphoid is less than expected for age. HP:0004245 Comma-shaped scaphoid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004245 UMLS:C4025395 HP:0005576 Tubulointerstitial fibrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005576 UMLS:C1969372 Tubulointerstitial scarring|Tubulointerstitial renal fibrosis A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial lfibrosis and/or Renal tubular atrophy. HP:0005579 Impaired reabsorption of chloride biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005579 UMLS:C1846349 Impaired reabsorption of Cl|Impaired reabsorption of Cl- Any impairment of reabsorption of chloride by the kidney in order to not lose too much chloride in the urine. HP:0004249 Accessory lunate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004249 UMLS:C4025392 HP:0005572 Decreased renal tubular phosphate excretion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005572 UMLS:C1968899 HP:0004240 Sclerotic foci within carpal bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004240 UMLS:C4025398|UMLS:C4280535 Hardened spots within wrist bones|Stiffened spots within wrist bones HP:0005574 Non-acidotic proximal tubulopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005574 UMLS:C4025176 A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss. HP:0005575 Hemolytic-uremic syndrome biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005575 UMLS:C0019061|MSH:D006463|SNOMEDCT_US:111407006 Hemolytic uremic syndrome HP:0004244 Accessory scaphoid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004244 UMLS:C4025396 HP:0004243 Abnormality of the scaphoid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004243 UMLS:C4025397 HP:0004242 Broad carpal bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004242 UMLS:C3554618 Wide carpal bones|Wide wrist bones HP:0005571 Increased renal tubular phosphate reabsorption biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005571 UMLS:C1968910 Increased percent tubular reabsorption of phosphorus HP:0004241 Stippled calcification in carpal bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004241 UMLS:C1844846 Punctate calcifications of carpals Point-shaped (punctate) calcifications affecting the carpal bones. HP:0031801 Vocal cord dysfunction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031801 Any functional anomaly of the vocal cord. HP:0005547 Myeloproliferative disorder biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005547 SNOMEDCT_US:425333006|UMLS:C0027022|SNOMEDCT_US:414794006|MSH:D009196 Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. HP:0005548 Megakaryocytopenia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005548 UMLS:C1858312 A reduced count of megakaryocytes. HP:0004214 Curved phalanges of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004214 UMLS:C4025407 Curved pinky finger bone|Curved little finger bone|Curved pinkie finger bone Curved phalanges of the 5th (little) finger. HP:0006879 Pontocerebellar atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006879 UMLS:C1853766 Atrophy affecting the pons and the cerebellum. HP:0031803 Fundus hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031803 Fundus haemorrhage Bleeding within the fundus of the eye. HP:0004213 Abnormal 5th finger phalanx morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004213 UMLS:C4025408 Abnormality of the pinkie finger bone|Abnormality of the little finger bone|Abnormality of the phalanges of the 5th finger|Abnormality of the pinky finger bone Abnormality of the phalanges of the 5th (little) finger. HP:0005549 obsolete Congenital neutropenia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005549 MSH:C537592|SNOMEDCT_US:89655007|UMLS:C1853118 Low blood neutrophil level since birth A form of neutropenia with congenital onset. HP:0031804 Premacular hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031804 Premacular haemorrhage HP:0005543 Reduced protein C activity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005543 MSH:D020151|UMLS:C0398625|SNOMEDCT_US:76407009 Protein C deficiency An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va. HP:0004219 Abnormality of the middle phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004219 UMLS:C4025406 Abnormality of the middle bone of little finger|Abnormality of the middle bone of pinky finger|Abnormality of the middle bone of pinkie finger HP:0004218 Symphalangism of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004218 UMLS:C4021676 Fused pinkie finger bones|Fused little finger bones|Fifth finger symphalangism|Fused pinky finger bones|Symphalagism of the little finger Fusion of two or more bones of the 5th finger. HP:0031800 Elevated circulating apolipoprotein A-II concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031800 Elevated APOAII level|Elevated apolipoprotein A-II level|Elevated apoA-II level|Elevated Apo-AII level An increased concentration in blood of apolipoprotein A-II, a major component of HDL particles, associated with triglyceride and glucose metabolism. HP:0004216 Osteolytic defects of the phalanges of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004216 UMLS:C4021677 Lytic defects of the phalanges of the little finger Dissolution or degeneration of bone tissue of the phalanges of the 5th finger. HP:0005546 Increased red cell osmotic resistance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005546 UMLS:C1858628 HP:0006877 obsolete Mental retardation, in some biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006877 HP:0006870 Lobar holoprosencephaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006870 MSH:D016142|SNOMEDCT_US:253136007|UMLS:C0431362 A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally. HP:0031809 Archibald's sign biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031809 Archibald's metacarpal sign|Knuckle dimple Shortening of the fourth and fifth metacarpals when the fist is clenched. HP:0005540 Red blood cell keratocytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005540 UMLS:C4021635 Distorted red blood cells resembling keratocytes|RBC keratocytosis A form of poikilocytosis in which the abnormally shaped erythrocytes have notches that results in projections that look like horns. HP:0006872 Cerebral hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006872 UMLS:C1855330 Underdeveloped cerebrum|Small cerebrum Underdevelopment of the cerebrum. HP:0005541 Congenital agranulocytosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005541 SNOMEDCT_US:89655007|MSH:C537592|UMLS:C1853118 Congenital onset of a marked decrease in the number of granulocytes. HP:0005542 Prolonged whole-blood clotting time biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005542 UMLS:C0151563 Prolonged clotting time An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot. HP:0006873 Symmetrical progressive peripheral demyelination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006873 UMLS:C4024972 A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. HP:0031805 Intraretinal hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031805 Intraretinal haemorrhage 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. HP:0031806 Abnormal basophil count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031806 Any deviation from the normal number of basophils per volume in the blood circulation. HP:0031807 Increased basophil count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031807 Basophilia An abnormally increased count of basophils per volume in the blood circulation. HP:0031808 Decreased basophil count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031808 An abnormally reduced count of basophils per volume in the blood circulation. HP:0004226 Curved distal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004226 UMLS:C4021672 Curved outermost little finger bone|Curved terminal phalanx of the little finger|Curved outermost pinkie finger bone|Curved outermost pinky finger bone Curved appearance of the distal phalanx of the 5th (little) finger. HP:0031812 Nitrituria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031812 Presence of nitrites in the urine. HP:0006889 Intellectual disability, borderline biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006889 SNOMEDCT_US:77287004|UMLS:C0006009 Intellectual disability, borderline|Mental retardation, borderline Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85. HP:0005558 Chronic leukemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005558 SNOMEDCT_US:128933000|UMLS:C1279296|SNOMEDCT_US:92812005|UMLS:C4280478 Chronic blood cancer|Chronic leukaemia 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. HP:0005559 Abnormality of the kinin-kallikrein system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005559 UMLS:C4025178 HP:0004225 Abnormality of the distal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004225 UMLS:C4021673 Abnormality of the outermost pinky finger bone|Abnormality of the outermost little finger bone|Abnormality of the outermost pinkie finger bone|Abnormality of the terminal phalanx of the little finger|Abnormality of the distal phalanx of the little finger Abnormality of the distal phalanx of the 5th (little) finger. HP:0031813 Colonic eosinophilia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031813 Eosinophilic infiltration in the colon|Eosinophilic colitis An excess of eosinophilic cells in colonic tissue, i.e., eosinophilic infiltration in the colon. HP:0031814 Palilalia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031814 Repetition of one's own words or phrases. HP:0004224 Abnormality of the epiphysis of the middle phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004224 UMLS:C4025405 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 Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx. HP:0004223 Ivory epiphysis of the distal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004223 UMLS:C4021674 Increased bone density of end part of the outermost pinky finger bone|Ivory epiphysis of the distal phalanx of the little finger|Increased bone density of end part of the outermost pinkie finger bone|Increased bone density of end part of the outermost little finger bone|Ivory epiphysis of the terminal phalanx of the little finger Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. HP:0031815 Abnormal oral physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031815 A functional anomaly of the mouth (which is also known as the oral cavity). HP:0006886 Impaired distal vibration sensation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006886 UMLS:C1853767 Decreased distal vibration sense A decrease in the ability to perceive vibration in the distal portions of the limbs. HP:0005556 Abnormality of the metopic suture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005556 UMLS:C4025180 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". HP:0006887 Intellectual disability, progressive biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006887 UMLS:C1846149 Mental retardation, progressive|Intellectual disability, progressive|Progressive mental retardation The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time. HP:0031810 Anti-ganglioside antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031810 The presence of autoantibodies (immunoglobulins) in the serum that react to gangliosides. HP:0005557 Abnormality of the zygomatic arch biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005557 UMLS:C4025179 Malformation of the zygomatic arch|Deformity of the zygomatic arch|Anomaly of the malar arch|Malformation of the malar arch|Anomaly of the zygomatic arch|Deformity of the malar arch|Abnormality of the malar arch An abnormality of the zygomatic arch, also known as the cheek bone. HP:0006888 Meningoencephalocele biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006888 SNOMEDCT_US:52330001|UMLS:C0266456 HP:0004227 Short distal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004227 UMLS:C1836674 Short outermost pinkie finger bone|Short outermost little finger bone|Hypoplastic/small terminal phalanx of the little finger|Short distal phalanx of the fifth finger|Fifth digit distal phalangeal hypoplasia|Short outermost pinky finger bone|Brachytelophalangism V Hypoplastic/small distal phalanx of the fifth finger. HP:0031811 Bilirubinuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031811 Presence of conjugated bilirubin in the urine. HP:0005550 Chronic lymphatic leukemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005550 SNOMEDCT_US:92814006|SNOMEDCT_US:51092000|MSH:D015451|SNOMEDCT_US:277473004|UMLS:C0023434 Chronic lymphocytic leukemia|Chronic lymphatic leukaemia 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. HP:0006881 Diffuse peripheral demyelination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006881 UMLS:C4024971 A diffuse loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. HP:0006882 Severe hydrocephalus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006882 UMLS:C3278123 HP:0004222 Cone-shaped epiphysis of the distal phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004222 UMLS:C4021675 Cone-shaped end part of the outermost pinky finger bone|Cone-shaped end part of the outermost little finger bone|Cone-shaped epiphysis of the distal phalanx of the little finger|Cone-shaped end part of the outermost pinkie finger bone A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. HP:0031816 Abnormal oral morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031816 Any structural anomaly of the mouth, which is also known as the oral cavity. HP:0031817 Decreased circulating parathyroid hormone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031817 Decreased serum parathyroid hormone|Decreased circulating PTH level|Decreased serum parathyroid hormone level|Decreased serum PTH An abnormally decreased concentration of parathyroid hormone. HP:0031818 Abnormal waist to hip ratio biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031818 A deviation from normal of the waist to hip ratio, defined as the waist measurement divided by hip measurement. HP:0004220 Short middle phalanx of the 5th finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004220 UMLS:C1834060 Fifth finger mid-phalanx hypoplasia|Hypoplastic middle phalanx of the 5th finger|Type A3 brachydactyly|Short middle bone of the pinkie finger|Hypoplastic/small middle phalanx of the 5th finger|Short middle bone of the little finger|Brachymesophalangism V|Hypoplastic fifth finger middle phalanx|Hypoplastic/small middle phalanx of the little finger|Short middle bone of the pinky finger|Short middle phalanx of the little finger|5th finger middle phalangeal hypoplasia Hypoplastic/small middle phalanx of the fifth finger. HP:0006880 Cerebellar hemangioblastoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006880 UMLS:C1332900|NCIT:C3801 Hemangioblastoma, sporadic cerebellar A hemangioblastoma of the cerebellum. HP:0031819 Increased waist to hip ratio biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031819 Increased WHR|Increased waist-to-hip ratio|Increased waist-hip ratio Increased waist-to-hip ratio (WHR) is a measurement above the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement. OBO:hp#uk_spelling UK spelling biolink:OntologyClass hp http://purl.obolibrary.org/obo/hp#uk_spelling HP:0500196 Abnormal CSF glutamine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500196 Abnormal glutamine levels in cerebrospinal fluid Any deviation from the normal concentration of glutamine amino acids in the cerebrospinal fluid. HP:0500197 Increased CSF glutamine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500197 High glutamine levels in cerebrospinal fluid Abnormally increased levels of glutamine in cerebrospinal fluid. HP:0500194 Decreased CSF isoleucine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500194 Low levels of isoleucine in cerebrospinal fluid Abnormally decreased levels of isoleucine in cerebrospinal fluid. HP:0500195 Abnormal CSF glutamine family amino acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500195 Abnormal glutamine family amino acid levels in cerebrospinal fluid Any deviation from the normal concentration of glutamine-family amino acids in the cerebrospinal fluid. HP:0500198 Decreased CSF glutamine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500198 Low glutamine levels in cerebrospinal fluid Abnormally decreased levels of glutamine in cerebrospinal fluid. HP:0500199 Abnormal CSF glutamate concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500199 Abnormal glutamic acid levels in cerebrospinal fluid Any deviation from the normal concentration of glutamic acid in the cerebrospinal fluid. HP:0006817 Aplasia/Hypoplasia of the cerebellar vermis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006817 UMLS:C1855676|UMLS:C3280770 Cerebellar vermis aplasia or hypoplasia|Cerebellar vermis aplasia/hypoplasia|Hypo/aplastic vermis Absence or underdevelopment of the vermis of cerebellum. HP:0006818 4-layered lissencephaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006818 UMLS:C0431375|MSH:D054221|SNOMEDCT_US:253147000 Four-layered lissencephaly|Classic lissencephaly|Type I lissencephaly|Lissencephaly, type I|Type 1 lissencephaly A form of lissencephaly in which the cortex is thickened and has four more or less disorganized layers rather than six normal layers resulting from incomplete neuronal migration during brain development. At neuropathological examination, a 4-layered cortex consists of an upper molecular layer, a second thin cellular layer containing pyramidal neurons usually observed in layer V, a third pale poorly cellular layer and a fourth thick deep layer made up of neurons which had failed to migrate. Radiologocally would manifest as agyria or pachygyria with cortical thickness greater than 10 mm. HP:0006812 White mater abnormalities in the posterior periventricular region biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006812 UMLS:C1836525 HP:0006813 Focal hemiclonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006813 UMLS:C1846620 Unilateral clonic seizure|Hemiclonic seizure|Unilateral clonic seizures|Hemiclonic seizures A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset. HP:0500185 Abnormal CSF branched chain amino acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500185 Abnormal branched-chain amino acid levels in cerbrospinal fluid Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid. HP:0500186 Abnormal CSF valine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500186 Abnormal valine levels in cerebrospinal fluid Any deviation from the normal concentration of valine in the cerebrospinal fluid. HP:0500183 Abnormal CSF carboxylic acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500183 Any deviation from the normal concentration of a carboxylic acid in the cerebrospinal fluid. HP:0500184 Abnormal CSF amino acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500184 Abnormal amino acid levels in cerebrospinal fluid|Abnormal cerebrospinal fluid amino acid level|Abnormal CSF amino acid level Any deviation from the normal concentration of amino acids in the cerebrospinal fluid. HP:0500189 Abnormal CSF leucine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500189 Abnormal leucine levels in cerebrospinal fluid Any deviation from the normal concentration of leucine in the cerebrospinal fluid. HP:0500187 Increased CSF valine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500187 High valine levels in cerebrospinal fluid Any increased amount from normal of valine in the cerebrospinal fluid. HP:0500188 Decreased CSF valine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500188 Low valine levels in cerebrospinal fluid Any decreased amount from normal of valine in the cerebrospinal fluid. HP:0006827 Atrophy of the spinal cord biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006827 UMLS:C1389102 Degeneration of the spinal cord HP:0006829 Severe muscular hypotonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006829 UMLS:C1839630 Hypotonia, severe|Severely decreased muscle tone A severe degree of muscular hypotonia characterized by markedly reduced muscle tone. HP:0006824 Cranial nerve paralysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006824 SNOMEDCT_US:73013002|UMLS:C0151311|UMLS:C4025709|MSH:D003389 Cranial nerve palsies|Cranial nerve palsy|Cranial nerve paresis HP:0006825 Pallor of dorsal columns of the spinal cord biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006825 UMLS:C1865416 HP:0006821 Frontal polymicrogyria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006821 UMLS:C1847356 Polymicrogyria, anterior to posterior gradient A type of polymicrogyria with a gradient of severity (anterior more severe than posterior) extending from frontal poles posteriorly to precentral gyrus and inferiorly to frontal operculum. HP:0500192 Abnormal CSF isoleucine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500192 Abnormal isoleucine levels in cerebrospinal fluid Any deviation from the normal concentration of isoleucine in the cerebrospinal fluid. HP:0500193 Increased CSF isoleucine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500193 High levels of isoleucine in cerebrospinal fluid Abnormally increased levels of isoleucine in cerebrospinal fluid. HP:0500190 Decreased CSF leucine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500190 Low leucine levels in cerebrospinal fluid Abnormally decreased levels of leucine in the cerebrospinal fluid. HP:0500191 Increased CSF leucine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500191 High leucine levels in cerebrospinal fluid Abnormally increased levels of leucine in cerebrospinal fluid. HP:0500173 Reflex asystolic syncope biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500173 Reflex anoxic seizure|Reflex anoxic seizures A loss of consciousness followed by stiffening and brief clonic movements affecting some or all limbs, often misinterpreted as an epileptic seizure. HP:0500181 Hypertaurinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500181 Elevated serum taurine levels|Increased circulating taurine levels in the blood An increased amount of taurine in the blood. HP:0500182 Hypotaurinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500182 Decreased circulating taurine levels|Reduced taurine levels in the blood|Lower blood levels of taurine A decreased amount of taurine in the blood. HP:0500180 Abnormal circulating amino sulfonic acid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500180 HP:0500163 Hypoornithinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500163 Low blood ornithine levels|Decreased blood ornithine concentrations An abnormal decrease in ornithine in the blood. HP:0500164 Abnormal blood carbon dioxide level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500164 Abnormal blood carbon dioxide level|Abnormal CO2 levels in blood An abnormality of carbon dioxide (CO2) in the arterial blood. HP:0500161 Increased level of carnosine in blood biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500161 High blood carnosine levels|Increased blood carnosine concenrtation An increased amount of carnosine in the blood. HP:0500162 Decreased level of carnosine in blood biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500162 Decreased blood carnosine concentration|Low blood carnosine levels A decreased amount of carnosine in bood. HP:0500167 Hypergastrinemia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500167 Increased blood gastrin|Elevated gastrin in the blood An elevated amount of gastrin in the blood. HP:0500165 Abnormal blood oxygen level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500165 Abnromal O2 blood concentration|Abnormal blood O2 level|Abnormal blood oxygen levels An abnormality of the partial pressure of oxygen in the arterial blood. HP:0500166 Abnormal circulating gastrin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500166 An abnormal concentration of gastrin in the blood. HP:0006808 Cerebral hypomyelination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006808 UMLS:C2677328 Hypomyelination of the brain Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system. HP:0006801 Hyperactive deep tendon reflexes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006801 UMLS:C1846176 HP:0006802 Abnormal anterior horn cell morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006802 MSH:D016472|UMLS:C0154681|SNOMEDCT_US:85672005|UMLS:C4020812 Anterior horn cell disease|Abnormality of the anterior horn cells|Anomaly of the anterior horn cells|Abnormality of the anterior horn cell Any anomaly of the anterior horn cell. HP:0006803 Vivid hallucinations biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006803 UMLS:C4024978 HP:0500170 Abnormal concentration of acylcarnitine in the urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0500170 An abnormal amount of acylcarnitine in the urine. HP:0030290 Unossified sacrum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030290 UMLS:C2675562 Absence of sacrum ossification Lack of ossification of the sacrum. HP:0030291 Lower-limb metaphyseal irregularity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030291 UMLS:C4022534 Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg. HP:0030292 Tibial metaphyseal irregularity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030292 UMLS:C4022533 Irregularity of the normally smooth surface of a metaphysis of a tibia. HP:0030297 Metaphyseal chondromatosis of ulna biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030297 UMLS:C4022528 HP:0030298 Metaphyseal chondromatosis of humerus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030298 UMLS:C4021860 HP:0030299 Distal femoral metaphyseal abnormality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030299 UMLS:C4022527 Abnormality of wide portion of outermost thighbone An anomaly of the metaphysis of the distal femur (close to the knee). HP:0030293 Fibular metaphyseal irregularity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030293 UMLS:C4022532 Irregularity of wide portion of calf bone Irregularity of the normally smooth surface of a metaphysis of a fibula. HP:0030294 Metaphyseal chondromatosis of tibia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030294 UMLS:C4022531 HP:0030295 Metaphyseal chondromatosis of femur biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030295 UMLS:C4022530 HP:0030296 Metaphyseal chondromatosis of radius biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030296 UMLS:C4022529 HP:0031584 Tessier number 12 facial cleft biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031584 There is a soft tissue cleft medial to the inner canthus with a cleft of the root of the eyebrow. The frontal process of the maxilla is flat and broadened, and the ethmoid labyrinth is increased in tranverse dimension, thereby producing orbital hypertelorism. The cribriform plate is of normal width. The frontal sinus is enlarged. Even though the frontal bone is flattened, bony clefts with encephalocele have not been observed. There is a lateral displacement of the inner canthus with a mild thinning, aplasia, or irregularity of the medial end of the eyebrow. There are no eyelid clefts. The soft tissue contour of the forehead is normal, with only a short downward prolongation of the paramedian frontal hairline to mark the superior extent of the soft tissue cleft. Flattening of the frontal process of the maxilla, an increase in the transverse dimension of the ethmoid sinus, and a laterally convex bowing of the medial orbital wall produce orbital hypertelorism. Superiorly there is a minor flattening of the frontal bone medially, and the nasofrontal angle is somewhat obtuse. The extensive pneumatization of the sinuses on the cleft side extends backward through the frontal and ethmoid sinuses and into the sphenoid sinus. The anatomy of the sphenoid, including the pterygoid processes, is otherwise normal. The anterior and middle cranial fossae floors are both broadened on the cleft side with minor widening of the cribriform plate. HP:0030253 Defective T cell proliferation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030253 UMLS:C4022557 A reduced ability of a T cell population to expand by cell division following T cell activation. HP:0031585 Tessier number 13 facial cleft biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031585 There is a paramedian frontal encephalocele and a soft tissue cleft that passes medial to an intact eyebrow. The frontal bone shows a paramedian bony cleft with an associated encephalocele. The olfactory groove, cribriform plate, and ethmoid sinus are all increased in transverse diameter, resulting in hypertelorism. The cleft extends medially to the undisturbed eyebrow to end in a short paramedian frontal widow's peak. The bony cleft begins in the region of the nasal bone and extends superiorly through the full height of the frontal bone. Posteriorly, the cleft extends through the cribriform plate and ethmoid sinus as far as the lesser wing and body of the sphenoid. The pterygoid processes are anatomically normal, but they are displaced laterally from the midline on the cleft side. There is orbital hypertelorism below and asymmetry of the floor of the anterior cranial fossa above. HP:0030254 Nail bed hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030254 UMLS:C0877087 Nail bed haemorrhage Small areas of bleeding (hemorrhage) under the fingernail or toenail. HP:0030255 Large intestinal polyposis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030255 UMLS:C4022556 The presence of multiple polyps in the large intestine. HP:0031586 Tessier number 14 facial cleft biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031586 Tessier facial cleft number 14 This midline cranial cleft usually occurs with a midline facial cleft that completes a median craniofacial dysraphia. A broad nasal root and bifid nose are associated with orbital hypertelorism and a median frontal encephalocele. The frontal bone abnormality varies from a minor flattening to a large midline defect. There is an increased distance between the olfactory grooves. The crista galli is widened, duplicated, or in some cases absent. Marked inferior prolapse of the enlarged ethmoid bone occurs with orbital hypertelorism. The severe orbital hypertelorism is associated with a broad flattening of the glabella and extreme lateral displacement of the inner canthi. The periorbita, including the eyelids and eyebrows, are otherwise normal. A long midline projection of the frontal hairline marks the superior extent of the soft tissue features of this midline cranial cleft. The median frontal defect delineates the region through which the frontal encephalocele herniates. The lateral segments of the frontal bone sweep upward from the region of the intact glabella and are flattened laterally. No pneumatization of the frontal sinus is evident. The crista galli and the perpendicular plate of the ethmoid are bifid. Just as the ethmoid, including the cribriform plate, is widened and caudally displaced, the sphenoid sinus is broadened and extensively, but symmetrically pneumatized. The lateral rotation of the greater and lesser wings of the sphenoid results in a relative shortening of the anteroposterior dimension of the middle cranial fossa. The floor of the anterior cranial fossa is upslanting from its medial aspect to its lateral aspect, with a harlequin appearance on the coronal scan. HP:0030256 Small intestinal polyposis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030256 UMLS:C4022555 The presence of multiple polyps in the small intestine. HP:0031587 Tessier number 30 facial cleft biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031587 A lower midline facial cleft, also known as the median mandibular cleft. It is a rare anomaly, which may be limited to a defect in the soft tissue of the lower lip. However, in the more severe form, it may extend into the bony mandibular symphysis. HP:0031580 Tessier number 8 facial cleft biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031580 Tessier facial cleft number 8 The frontozygomatic or Number 8 cleft is found in both Treacher Collins syndrome and the Goldenhar variant of hemifacial microsomia. Skeletal defects are more prominent in Treacher Collins syndrome, whereas the soft tissue clefting is more typical in cases of ''Goldenhar syndrome''. Soft tissue clefting presents as a dermatocele, a true lateral eyelid coloboma with absence of the outer canthus, and anomalies of the globe itself, especially epibulbar cysts in patients with Goldenhar syndrome. The frontozygomatic bony cleft produces absence of the lateral orbital rim; this border now is formed by the hypoplastic greater wing of the sphenoid. The absence of bony support for the outer canthus produces lateral canthal dystopia and the characteristic antimongoloid slant of the palpebral fissures. Secondary to the bony deficiency in the lateral orbital wall and floor, there is soft tissue continuity between the orbit, temporal fossa, and infratemporal region. Preauricular hairline indicators delineate the Number 8 cleft as the first of the northbound clefts. Complete absence of the bony lateral orbital wall and rim constitute the skeletal element of the Number 8 cleft. The lateral border of the orbit is formed by the greater wing of the sphenoid from which small spicules of bone, which represent the rudimentary zygoma, may be found in Treacher Collins syndrome. The symmetry of the facial anomalies is reflected in the apparently normal symmetric anterior and middle cranial fossae. HP:0031581 Tessier number 9 facial cleft biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031581 This is an upper lateral orbital cleft. The soft tissue deformity is in the lateral one-third of the upper eyelid, and the bony cleft is through the superolateral orbital angle. Microphthalmia is present. The superolateral bony deficiency of the orbits allows a lateral displacement of the globes. The lateral one-third of the upper eyelid and the outer canthus are distorted, thus preventing apposition to the globe. The upper eyelid does not have a true cleft. A soft tissue furrow radiates superiorly and posterisphenoid is symmetric and normal. Mild cranial base asymmetry is reflected in the pterygoid plates. The left pair is more laterally displaced from the midline. Skull vault plagiocephaly is evident with an apparent reduction in the anteroposterior dimension of the anterior cranial fossa. HP:0030250 Pulmonary granulomatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030250 UMLS:C0856628 The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the lung. HP:0030251 Absence of memory B cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030251 UMLS:C4022559 Complete lack of memory B cells, that is, of mature B cell type that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin. HP:0031582 Tessier number 10 facial cleft biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031582 In a Number 10 Tessier cleft there is an upper central orbital cleft with a cleft of the middle one-third of the upper eyelid, which often results in total ablepharia. The eyebrow is disrupted, being virtually absent medially, whereas the lateral portion angles upward toward the frontal hairline. There may be ocular anomalies, including colobomata of the iris. The skeletal cleft is through the midportion of the supraorbital rim, the adjacent frontal bone, and the orbital roof lateral to the supraorbital nerve. A frontal encephalocele frequently occupies the frontal bony cleft. The palpebral fissure is grossly elongated with an amblyopic eye displaced inferiorly and laterally. There is also a divergent squint of the right eye. The eyebrow is deficient medially and becomes thinned out laterally , where it is contiguous with a broad downward and forward projection of the frontotemporal hairline (this may be seen in both the Number 9 and 10 clefts.) A broad frontal encephalocele bulges forward from the middle one-third of the right forehead, supraorbital ridge, and orbital roof. The bony cleft, through which the frontal encephalocele presents, involves the anterior half of the orbital roof, the supraorbital rim, and two-thirds of the vertical height of the frontal bone lateral to the supraorbital nerve. The bony orbit is inferiorly displaced and widened with the lateral orbital wall shortened and laterally deviated. Similar distortion of the anterior cranial fossa is evident, being broader and more flattened on the affected side. The calvarium above the level of the cleft and the cranial base below is symmetric. HP:0030252 Absence of mature B cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030252 UMLS:C4022558 Complete lack of mature B cells, that is, of B cells that have left the bone marrow. HP:0031583 Tessier number 11 facial cleft biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031583 An upper medial orbital cleft produces a cleft of the medial one-third of the upper eyelid that extends through the eyebrow into the frontal hairline. The skeletal element of the cleft in the region of the frontal process of the maxilla may either pass lateral to the ethmoid, through the supraorbital rim, or it may pass through the ethmoidal labyrinth to produce orbital hypertelorism. This cleft usually accompanies the Number 3 cleft. The soft tissue features include a cleft of the medial portion of the upper eyelid, an irregularity in hair orientation at the medial end of the eyebrow, and a long tongue-like projection of the frontal hairline onto the forehead. There is a mild flattening of the frontal process of the maxilla and extensive pneumatization of both the ethmoidal and frontal sinuses, both of which are more prominent on the cleft side. No bony clefting of the supraorbital rim or frontal bone is evident. The cranial base and sphenoid architecture, including the pterygoid processes, are symmetric and normal. HP:0031588 Unhappy demeanor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031588 Unhappy demeanour A conspicuously unhappy disposition characterized by negative assumptions, self-defeating talk, fear of failure, and negative ruminations about past events. HP:0030257 Freckled genitalia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030257 UMLS:C4021040 Genitalia, ephelides|Freckled genitalia One or more brown punctate macules on the skin of the genitalia. HP:0030258 Hyperpigmented genitalia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030258 UMLS:C4022554|UMLS:C4020713 Penile melanosis|Increased genital pigmentation Localized or generalized increased genital pigmentation. HP:0031589 Suicidal ideation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031589 Frequent thinking about or preoccupation with killing onself. HP:0030259 Hypopigmented genitalia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030259 UMLS:C4022553 Decreased genital pigmentation Localized or generalized decreased genital pigmentation. HP:0031590 Asthenopia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031590 Eye strain Eye strain, i.e., a feeling of fatigue or discomfort of the eyes related to 'overuse' of the eyes in activities such as reading or working at the computer and often accompanied by lacrimation or headache. HP:0030264 Webbed penis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030264 UMLS:C0431670|SNOMEDCT_US:253852007 Webbed penis Ventral skinfold extending from penis to scrotum. HP:0031595 Abnormal P wave biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031595 Any anomaly of the P wave of the EKG, which results from atrial depolarization. The P wave occurs when the sinoatrial node creates an action potential that depolarizes the atria. HP:0030265 Wide penis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030265 UMLS:C4022551 Wide penis Distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis more than 2 standard deviations above the mean for age. HP:0031596 Abnormal PR segment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031596 An anomaly of the PR segment, which begins at the endpoint of the P wave and ends at the onset of the QRS complex. The PR segment is normally flat and isoelectric. HP:0030266 obsolete Abnormality of the sacroiliac notch biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030266 HP:0031597 PR segment elevation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031597 PTa elevation|PR interval elevation An increase in voltage of the PR segment above baseline. HP:0030267 Calcification of the interosseus membrane of the forearm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030267 UMLS:C4022549 Deposition of calcium salts in the fibrous sheet that connects the radius and the ulna. HP:0031598 Notched P wave biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031598 V-shaped cut (notch) in the middle of the P wave. HP:0030260 Microphallus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030260 SNOMEDCT_US:276333003|UMLS:C0240701 Length of penis more than 2 SD below the mean for age accompanied by hypospadias. HP:0031591 Enlarged Eustachian valve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031591 Enlarged inferior vena cava valve|Giant Eustachian valve An abnormally large Eustachian valve (postnatally). The Eustachian valve is also known as the valve of the inferior vena cava, and is an embryologic remnant of the valve of the inferior vena cava. HP:0030261 Absent penis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030261 UMLS:C0555231|SNOMEDCT_US:59981001|SNOMEDCT_US:204908001 Aplasia of the penis|Aphallia|Absent penis|Penis aplasia Lack of recognizable penile structures. HP:0031592 Situs inversus with levocardia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031592 Situs inversus of thoracic and abdominal viscera with the heart remaining normally situated on the left; usually associated with congenital cardiac abnormalities such as transposition of the great vessels and/or spleen defects including asplenia or polysplenia. HP:0031593 Abnormal PR interval biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031593 An anomaly of the PR interval, which is the portion of the ECG from the onset of the P wave to the beginning of the QRS complex. A normal PR interval in adults is 0.12-0.2 seconds. HP:0030262 Narrow penis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030262 UMLS:C4022552 Narrow penis Penile width more than 2 standard deviations (SD) below the mean for age. Alternatively circumference of the flaccid penis more than 2 SD below the mean for age. Alternatively, apparently decreased penile width for age. HP:0031594 PR segment depression biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031594 PTa depression|PR interval depression A reduction in voltage of the PR segment below baseline. HP:0030263 Torsion of the penis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030263 UMLS:C1407019 Rotated position of the glans, with or without the penile shaft, of 30 degrees or more. HP:0031599 P mitrale biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031599 A broad (120 ms or longer in duration) and bifid P-wave in EKG lead II. HP:0030268 Hyperplastic callus formation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030268 UMLS:C4022548 Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing. HP:0030269 Increased serum insulin-like growth factor 1 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030269 UMLS:C2676198 Elevated serum IGF1|Increased serum IGF1|Increased serum insulin-like growth factor 1 An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation. HP:0030270 Elevated red cell adenosine deaminase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030270 UMLS:C4022547 Increase in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine. HP:0030275 Ectopic scrotum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030275 UMLS:C4022542 Abnormal scrotum position Scrotum in a position other than the usual position inferior to the base of the penis. HP:0030276 Small scrotum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030276 UMLS:C0431659|SNOMEDCT_US:204912007 Underdeveloped scrotum|Small scrotum Apparently small scrotum for age. HP:0030277 Abnormal vertebral pedicle morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030277 UMLS:C4022541 Abnormal morphology of a vertebral pedical. HP:0030278 Hypoplastic vertebral pedicle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030278 UMLS:C4022540 Underdeveloped vertebral pedicle. HP:0030271 Reduced erythrocyte 2,3-diphosphoglycerate concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030271 UMLS:C4022546 This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation. HP:0030272 Abnormal erythrocyte enzyme level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030272 UMLS:C4022545 An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme. HP:0030273 Reduced red cell adenosine deaminase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030273 UMLS:C4022544 Decrease in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine. HP:0030274 Accessory scrotum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030274 UMLS:C4022543 Extra scrotum Additional scrotum, or part of a scrotum in an abnormal location. HP:0030279 Hypoplastic L5 vertebral pedicle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030279 UMLS:C4022539 Underdeveloped pedicle of the fifth lumbar vertebra. HP:0030280 Rib gap biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030280 SNOMEDCT_US:249705009|UMLS:C0426827 Rib gap Radiolucent focal defect of a rib shaft. HP:0030281 Cervical C3/C4 vertebral fusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030281 UMLS:C4022538 Fusion of cervical vertebrae at C3 and C4, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. HP:0030286 Atrophic superior cerebellar peduncle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030286 UMLS:C4022535 Atrophy of the superior cerebellar peduncle. HP:0030289 Flattened femoral epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030289 UMLS:C1850642 Flattended end part of thigh bone An abnormal flattening of an epiphysis of femur. HP:0030282 Posterior rib gap biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030282 UMLS:C1842696 Dorsal rib defect Radiolucent focal defect of the posterior portion of a rib shaft. The 'gaps' may lead to flail chest. HP:0030283 Partial absence of the septum pellucidum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030283 SNOMEDCT_US:422474003|UMLS:C1827299 Only part of the septum pellucidum (a thin, triangular, vertical membrane separating the lateral ventricles of the brain) is present. This feature can be appreciated on magnetic resonance tomography or computed tomography of the brain. HP:0030284 Triangular tongue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030284 UMLS:C4022537 Triangle shaped tongue|Triangular tongue A form of macrogloassia (increased size of the tongue) characterized by a broad based root of the tongue but a small tongue tip, giving the appearance of a triangle. HP:0030285 Splayed superior cerebellar peduncle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030285 UMLS:C4022536 Abnormal splayed configuration (spreading out) of the superior cerebellar peduncle. HP:0031540 Linear IgG deposits along the epidermal basement membrane zone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031540 Presence of IgG antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy. HP:0032872 Focal impaired awareness cognitive seizure with illusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032872 A focal cognitive seizure with illusion characterized by impairment of awareness at some point during the seizure. HP:0030210 Muscle specific kinase antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030210 UMLS:C4021044 Anti-MUSK antibodies The presence of autoantibodies (immunoglobulins) in the serum that react against muscle specific kinase (anti-MuSK Ab). HP:0031541 Linear C3 deposits along the epidermal basement membrane zone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031541 Presence of complement C3 in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy. HP:0032871 Focal aware cognitive seizure with hallucination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032871 A focal cognitive seizure with hallucination characterized by retained awareness throughout the seizure. HP:0030211 Slow pupillary light response biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030211 UMLS:C4022576 Reduced velocity and acceleration in the pupillary light response. HP:0031542 Myelin-like whorls in vacuolated fibers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031542 Myelin-like whorls in vacuolated fibres Muscle fibers contain one or more vacuoles (membrane-bound cavity) associated with collections of membranes arranged in a whorl-like (spiral or circular) manner. HP:0032874 Focal impaired awareness cognitive seizure with auditory agnosia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032874 A focal cognitive seizure with auditory agnosia characterized by impairment of awareness at some point during the seizure. HP:0030212 Collectionism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030212 SNOMEDCT_US:247968005|UMLS:C0424290 Compulsive hoarding Excessive or pathological tendency to save and collect possessions. HP:0032873 Focal aware sensory seizure with cephalic sensation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032873 A seizure characterized by a sensation in the head such as light-headedness or headache. HP:0032870 Focal impaired awareness cognitive seizure with dyslexia/alexia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032870 A focal cognitive seizure with dyslexia / alexia characterized by impairment of awareness at some point during the seizure. HP:0030217 Limb apraxia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030217 UMLS:C4022574 Difficulty in performing the correct execution of limbs movements in absence of motor impairment. HP:0031548 Follicular infundibulum tumor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031548 Basal cell hamartoma with follicular differentiation|Follicular infundibulum tumour A cutaneous adnexal neoplasm with variable clinical presentation. It tends to be located in the head and neck and the presentation is papulonodular, scaly, asymptomatic, measuring up to 1-2cm, simulating a basal cell carcinoma. HP:0031549 Lymphocytoma cutis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031549 Skin pseudolymphoma|Spiegler-Fendt sarcoid Lymphocytoma cutis, or Spiegler-Fendt sarcoid, is classed as one of the pseudolymphomas, referring to inflammatory disorders in which the accumulation of lymphocytes on the skin resemble, clinically and histopathologically, cutaneous lymphomas. Careful clinical evaluation, histopathological and immunohistochemical exams may be needed to make the correct diagnosis. HP:0030218 Punding biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030218 UMLS:C1963933 Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects. HP:0032879 Focal impaired awareness seizure with dissociation at onset biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032879 A focal cognitive seizure with dissociation at the onset of the seizure impairment of awareness at at some point during the seizure. HP:0030219 Semantic dementia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030219 UMLS:C0338462|SNOMEDCT_US:230288001|MSH:D057180 Trouble remembering words A progressive loss of the ability to remember the meaning of words, faces and objects. HP:0030213 Emotional blunting biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030213 SNOMEDCT_US:6140007|UMLS:C0233469 Lack of emotional reactivity and empathy for situations or persons, sometime also for family members. HP:0031544 Elevated circulating palmitoleylcarnitine concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031544 Elevated circulating O-propionylcarnitine concentration|Elevated plasma palmitoleylcarnitine, C16:1|Elevated plasma propionylcarnitine, C3:0|Elevated propionylcarnitine level 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. HP:0005246 Giant hypertrophic gastritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005246 MSH:D005758|SNOMEDCT_US:413219009|UMLS:C0017155|SNOMEDCT_US:60002000 Menetrier disease A type of gastritis characterized by excessive proliferation of the gastric mucosa and diffuse thickening of the gastric mucosal folds. HP:0032876 Focal aware cognitive seizure with conduction dysphasia/aphasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032876 A focal cognitive seizure with conduction dysphasia / aphasia characterized by retained awareness throughout the seizure. HP:0006577 Macronodular cirrhosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006577 UMLS:C2004456|SNOMEDCT_US:86454000|SNOMEDCT_US:43904005 A type of cirrhosis characterized by the presence of large regenerative nodules. HP:0030214 Hypersexuality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030214 UMLS:C0679145|UMLS:C0312420|SNOMEDCT_US:73744004 Sex addiction Pathological persistent sexual disinhibiting behavior, directed at oneself or to others. HP:0031545 Abnormally low T cell receptor excision circle level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031545 Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells. HP:0005247 Hypoplasia of the abdominal wall musculature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005247 UMLS:C3279407 Abdominal muscular hypoplasia Underdevelopment of the abdominal musculature. HP:0032875 obsolete Focal impaired awareness cognitive seizure with impaired responsiveness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032875 HP:0006579 Prolonged neonatal jaundice biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006579 UMLS:C0022353|SNOMEDCT_US:387712008|MSH:D007567|UMLS:C1859236 Neonatal jaundice|Jaundice, neonatal|Prolonged yellowing of skin in newborn Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants. HP:0031546 Cardiac conduction abnormality biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031546 Abnormality of cardiac conduction system|Cardiac conduction defects|Heart conduction disorder|Cardiac conduction abnormalities|Abnormality of cardiac conduction Any anomaly of the progression of electrical impulses through the heart. HP:0032878 Focal impaired awareness sensory seizure with cephalic sensation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032878 A focal sensory seizure with cephalic sensation in which awareness is partially or fully impaired at some point during the seizure. HP:0005248 Intrahepatic biliary atresia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005248 UMLS:C1855284 Intrahepatic atresia of biliary duct|Bile duct paucity Atresia in the intrahepatic bile duct. HP:0030215 Inappropriate crying biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030215 UMLS:C0860609 Inappropriate crying Uncontrolled episodes of crying, without apparent motivating stimuli. HP:0031547 Abnormal QT interval biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031547 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). HP:0030216 Inertia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030216 UMLS:C4022575 Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example). HP:0032877 Focal aware sensory seizure with hot-cold sensations biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032877 A seizure characterized by sensations of feeling hot and then cold. HP:0005249 Functional intestinal obstruction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005249 UMLS:C3639956 HP:0006573 Acute hepatic steatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006573 UMLS:C4025020 Acute fatty liver An acute form of hepatic steatosis. HP:0005242 Extrahepatic biliary duct atresia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005242 UMLS:C0005411|SNOMEDCT_US:77480004|MSH:D001656|SNOMEDCT_US:82821008 Biliary atresia, extrahepatic Atresia in the extrahepatic bile duct. HP:0006574 Hepatic arteriovenous malformation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006574 SNOMEDCT_US:84150000|UMLS:C0520557 Liver arteriovenous malformation HP:0005243 Partial abdominal muscle agenesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005243 UMLS:C4025228 Failure to form of portions of the abdominal musculature. HP:0005244 Gastrointestinal infarctions biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005244 UMLS:C3152231 GI infarctions|Death of digestive organ tissue due to poor blood supply HP:0006575 Intrahepatic cholestasis with episodic jaundice biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006575 UMLS:C4025019 HP:0006576 Hepatic vascular malformations biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006576 UMLS:C1861790 Liver vascular malformations HP:0005245 Intestinal hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005245 UMLS:C4021640 Underdeveloped instestine|Hypoplastic intestines Developmental hypoplasia of the intestine. HP:0006571 Reduced number of intrahepatic bile ducts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006571 UMLS:C4021591|UMLS:C1861621 Intrahepatic duct deficiency|Hepatic ductopenia The presence of reduced numbers of intrahepatic bile duct than normal. HP:0005240 Esophageal obstruction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005240 SNOMEDCT_US:405247003|UMLS:C0239296 HP:0005241 Total intestinal aganglionosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005241 UMLS:C0345240|MSH:C538058|SNOMEDCT_US:204745000 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. HP:0006572 Subacute progressive viral hepatitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006572 UMLS:C1861901 HP:0006590 Premature sternal synostosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006590 UMLS:C4021590 Prematurely closed sternal sutures Prematurely closed sternal sutures. HP:0032883 Focal aware cognitive seizure with deja vu/jamais vu biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032883 A focal cognitive seizure with deja vu / jamais vu characterized by retained awareness throughout the seizure. HP:0030220 Socially inappropriate behavior biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030220 UMLS:C2220010 Socially inappropriate behaviour|Socially inappropriate behavior Behavior that is not in line with social norms. HP:0031551 Reduced cell surface marker level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031551 Reduced level of a protein that is normally present on the cell surface as assessed by flow cytometry. HP:0030221 Sweet craving biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030221 UMLS:C0241314 Sweet craving Excessive desire to eat sweet foods. HP:0031552 Reduced fibroblast surface marker level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031552 Reduced level of a protein that is normally present on the fibroblast surface as assessed by flow cytometry. HP:0032882 Focal impaired awareness cognitive seizure with deja vu/jamais vu biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032882 A focal cognitive seizure with deja vu / jamais vu characterized by impairment of awareness at some point during the seizure. HP:0030222 Visual agnosia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030222 MSH:D000377|SNOMEDCT_US:25762009|UMLS:C0234502 Difficulty in recognizing objects by visual input in absence of sensorial visual impairment. HP:0032885 Focal impaired awareness cognitive seizure with hallucination biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032885 A focal cognitive seizure with hallucination characterized by impairment of awareness at some point during the seizure. HP:0031553 Reduced granulocyte surface marker level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031553 Reduced level of a protein that is normally present on the granulocyte surface as assessed by flow cytometry. HP:0031554 Reduced granulocyte CD55 level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031554 Reduced level of CD55 on the granulocyte surface as assessed by flow cytometry. HP:0032884 Focal aware sensory seizure with somatosensory features biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032884 A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move. Awareness is retained throughout the seizure. HP:0030223 Perseveration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030223 UMLS:C0233651|SNOMEDCT_US:44515000 Perseverative behavior|Perseverative behaviour Perseveration can be defined as the contextually inappropriate and unintentional repetition of a response or behavioral unit. In other words, the observed repetitiveness does not meet the demands of the situation, is not the product of deliberation, and may even unfold despite counterintention. Perseveration can therefore be differentiated from goal-directed and intentional forms of repetition, such as linguistic redundancies designed to enhance communicative or poetic impact. HP:0032881 obsolete Focal aware cognitive seizure with impaired responsiveness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032881 HP:0032880 Focal impaired awareness sensory seizure with auditory features biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032880 A focal sensory seizure with auditory features in which awareness is partially or fully impaired at some point during the seizure. HP:0031550 Abnormal flow cytometry test result biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031550 Any abnormal result of flow cytometry, a method that suspends cells in a stream of fluid and passes them through an electronic detection apparatus in order to assess cell count or measure biomarkers or surface molecules. HP:0030228 Abnormal muscle fiber valosin-containing protein biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030228 UMLS:C4022570 Abnormal muscle fibre valosin-containing protein A deviation from normal in the expression of valosin-containing protein in muscle tissue. Valosin-containing protein is an ubiquitously expressed multifunctional 100-kD protein that is a member of the AAA+ (ATPase associated with various activities) protein family. HP:0031559 Reduced fibroblast CD16 level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031559 Reduced level of CD16 on the fibroblast surface as assessed by flow cytometry. HP:0030229 Accumulation of muscle fiber valosin-containing protein biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030229 UMLS:C4022569 Accumulation of muscle fibre valosin-containing protein Immunohistochemistry shows accumulation of valosin-containing protein in the muscle biopsy. HP:0005257 Thoracic hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005257 UMLS:C1837482 Small chest|Small thorax HP:0030224 Abnormal muscle fiber desmin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030224 UMLS:C4022573 Abnormal muscle fibre desmin A deviation from normal in the expression of desmin in muscle tissue. Desmin is an 53-KDa protein. HP:0032887 Generalized atonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032887 Generalised atonic seizure Generalized atonic seizure is a type of generalized motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1-2 s, involving head, trunk, jaw, or limb musculature. HP:0031555 Reduced granulocyte CD59 level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031555 Reduced level of CD59 on the granulocyte surface as assessed by flow cytometry. HP:0032886 Focal impaired awareness cognitive seizure with expressive dysphasia/aphasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032886 A focal cognitive seizure with expressive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure. HP:0006589 Flaring of lower rib cage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006589 UMLS:C1855196 Flaring of lower rib cage HP:0031556 Reduced granulocyte CD16 level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031556 Reduced level of CD16 on the granulocyte surface as assessed by flow cytometry. HP:0005258 Pectoral muscle hypoplasia/aplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005258 UMLS:C4025226 Underdeveloped/absent pec muscle|Small/absent pec muscle HP:0030225 Accumulation of muscle fiber desmin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030225 UMLS:C4021043 Muscle fiber desmin-reactive inclusion bodies|Accumulation of muscle fibre desmin Immunohistochemistry shows accumulation of desmin protein in the muscle biopsy. HP:0030226 Abnormal muscle fiber myotilin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030226 UMLS:C4022572 Abnormal muscle fibre myotilin A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kD cytoskeletal protein. HP:0032889 Focal aware sensory seizure with gustatory features biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032889 A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes. HP:0031557 Reduced fibroblast CD55 level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031557 Reduced level of CD55 on the fibroblast surface as assessed by flow cytometry. HP:0005259 Abnormal facility in opposing the shoulders biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005259 UMLS:C1861517 HP:0032888 Focal impaired awareness cognitive seizure with forced thinking biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032888 A focal cognitive seizure with forced thinking characterized by impairment of awareness at some point during the seizure. HP:0031558 Reduced fibroblast CD59 level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031558 Reduced level of CD59 on the fibroblast surface as assessed by flow cytometry. HP:0030227 Accumulation of muscle fiber myotilin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030227 UMLS:C4022571 Accumulation of muscle fibre myotilin Immunohistochemistry shows accumulation of myotilin protein in the muscle biopsy. HP:0005253 Increased anterioposterior diameter of thorax biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005253 UMLS:C1848760 Increased anterioposterior diameter of chest HP:0006584 Small abnormally formed scapulae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006584 UMLS:C1861226 Small abnormally formed shoulder blade|Small abnormally formed scapula HP:0006585 Congenital pseudoarthrosis of the clavicle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006585 UMLS:C0426806|SNOMEDCT_US:249685004|SNOMEDCT_US:249690001|UMLS:C0426811 Pseudoarthrosis of clavicle|Clavicle pseudoarthrosis|Bipartite clavicle The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle. HP:0005254 Unilateral chest hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005254 UMLS:C1845576 Small chest on one side|Underdeveloped chest on one side HP:0005255 Absence of pectoralis minor muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005255 UMLS:C1868158 Pectoralis minor aplasia Aplasia (congenital absence) of the pectoralis minor. HP:0005256 Unilateral absence of pectoralis major muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005256 UMLS:C4021639 Unilateral aplasia of pectoralis major muscle Aplasia (congenital absence) of the pectoralis minor on only one side of the chest. HP:0006587 Straight clavicles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006587 UMLS:C4025016 Straight collarbone An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved . HP:0006580 Portal fibrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006580 UMLS:C2677002|UMLS:C3805083 Portal fibrosis shown on biopsy Fibroblast proliferation and fiber expansion from the portal areas to the lobule. HP:0005250 High intestinal obstruction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005250 UMLS:C4025227 HP:0006581 Depletion of mitochondrial DNA in liver biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006581 UMLS:C4025018 An abnormal reduction in the number of mitochondria in hepatocytes. HP:0006582 Reye syndrome-like episodes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006582 UMLS:C1850413 Repeated occurrences of acute noninflammatory encephalopathy and fatty degenerative liver failure. HP:0006583 Fatal liver failure in infancy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006583 UMLS:C4025017 Fatal liver failure in infancy HP:0031562 Balanced double aortic arch biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031562 Fyler:2780 A type of double aortic arch in which the two branches are of equal size. In most cases of double aortic arch, the right aortic arch is larger and located higher than the left aortic arch. HP:0030231 Glycogen accumulation in muscle fiber lysosomes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030231 UMLS:C4022567 Glycogen accumulation in muscle fibre lysosomes An increased amount of glycogen in muscle tissue found specifically in lysosomes. HP:0032894 Seizure precipitated by febrile infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032894 Fever induced seizure Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age. HP:0030232 Increased sarcoplasmic glycogen biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030232 UMLS:C4022566 Elevated glycogen content in the sarcoplasm (cytoplasm) of muscle fibers. HP:0031563 Coronary arteriovenous fistula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031563 Fyler:2240 An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation. HP:0032893 Gastroenteritis-related afebrile seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032893 Afebrile (less than 38.0 degrees Celcius), brief, and generalized seizures accompanying gastroenteritis without an alternative cause. HP:0032896 Music-induced seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032896 Seizure precipitated by listening to music or other complex sounds. HP:0031564 Bronchial isomerism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031564 An anomalous mirror-imaged arrangement of some bronchial structures. Right isomerism is defined as a subset of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures (vice versa for left isomerism). HP:0030233 Bethlem sign biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030233 UMLS:C4021042 Bethlem phenomenon Limitation of wrist and finger extension on asking patient to form a prayer sign. This is a result of progressive wrist and finger flexion contractures. HP:0031565 Abdominal situs ambiguus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031565 Fyler:3817 An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements. HP:0030234 Highly elevated creatine kinase biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030234 UMLS:C4022565 Highly elevated serum CK|Highly elevated serum CPK|Highly elevated creatine phosphokinase|Highly elevated CPK|Highly elevated serum phosph-CK An increased CPK level between 4X and 50X above the upper normal level. HP:0032895 Febrile seizure outside the age of 3 months to 6 years biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032895 Any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38.0 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in people beyond the typical arrange of 3 months-6 years with no prior history of afebrile seizure. HP:0032890 Focal impaired awareness sensory seizure with somatosensory features biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032890 A focal sensory seizure with somatosensory features in which awareness is partially or fully impaired at some point during the seizure. HP:0032892 Infection-related seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032892 Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever. HP:0031560 Coronary cameral fistula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031560 Fyler:2233 An abnormal communication between coronary artery and a cardiac chamber. HP:0031561 Coronary cameral fistula to right ventricle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031561 An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle. HP:0032891 Focal aware motor seizure with version biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032891 Focal motor aware seizure with version A focal motor seizure with version characterized by retained awareness throughout the seizure. HP:0030230 Central core regions in muscle fibers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030230 UMLS:C4022568 Central core regions in muscle fibres The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric. HP:0006559 Hepatic calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006559 UMLS:C1696466 Liver calcifications The presence of abnormal calcium deposition in the liver. HP:0030239 Hypoplasia of the upper arm musculature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030239 UMLS:C4022562 Underdeveloped upper arm muscles Underdevelopment of the musculature of the upper arm, which may include the deltoid, the triceps, the biceps, and the brachioradialis. HP:0005229 Jejunoileal ulceration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005229 UMLS:C4025232 HP:0006555 Diffuse hepatic steatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006555 UMLS:C1849686 Hepatic steatosis, diffuse A diffuse form of hepatic steatosis. HP:0031566 Abnormal pulmonary valve cusp morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031566 Fyler:1652 Any structural anomaly of the pulmonary valve leaflets. HP:0032898 Focal automatism seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032898 A focal seizure characterized at onset by coordinated motor activity. This often resembles a voluntary movement and may consist of an inappropriate continuation of preictal motor activity. HP:0030235 Extremely elevated creatine kinase biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030235 UMLS:C4022564 Extremely elevated phospho-CK serum level|Extremely high CPK level|Extremely elevated creatine phosphokinase|Extremely elevated serum CK level|Extremely elevated CPK An increased creatine kinase level more than 50X above the upper normal level. HP:0005224 Rectal abscess biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005224 UMLS:C0267566|UMLS:C0149770|SNOMEDCT_US:197166005|SNOMEDCT_US:91669008 Perirectal abscess A collection of pus in the area of the rectum. HP:0007886 Absent extraocular muscles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007886 UMLS:C1408781|UMLS:C4024777 Absent ocular muscles|Missing eye muscles Congenital absence of the extraocular muscles. HP:0031567 Abnormal aortic valve cusp morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031567 Fyler:1480 Any structural anomaly of the aortic valve leaflets. HP:0005225 Intestinal edema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005225 UMLS:C1142262 Intestinal oedema Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds. HP:0032897 Focal impaired awareness sensory seizure with gustatory features biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032897 A focal sensory seizure with gustatory features in which awareness is partially or fully impaired at some point during the seizure. HP:0030236 Abnormality of muscle size biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030236 UMLS:C4022563 Abnormality of muscle size Abnormalities of the overall muscle bulk based on clinical observation. HP:0030237 Hand muscle weakness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030237 SNOMEDCT_US:298283006|UMLS:C0239831 Hand muscle weakness Reduced strength of the musculature of the hand. HP:0007889 Iridescent posterior subcapsular cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007889 UMLS:C1864573 Cataracts, posterior, subcapsular, iridescent A type of posterior subcapsular cataract characterized by an iridescent color. HP:0006557 Polycystic liver disease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006557 MSH:C536330|SNOMEDCT_US:72925005|UMLS:C0158683 HP:0031568 Thickened aortic valve cusp biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031568 Fyler:1486 An abnormally increased thickness of a leaflet of the aortic valve. HP:0005227 Adenomatous colonic polyposis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005227 UMLS:C1868071|MEDDRA:10056981 Multiple colonic adenomatous polyps|Multiple adenomatous colon polyps Presence of multiple adenomatous polyps in the colon. HP:0032899 Focal orofacial automatism seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032899 A type of focal automatism seizure characterized by orofacial automatisms at onset. HP:0031569 Absent aortic valve cusps biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031569 Fyler:1484 Absent aortic valve A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva. HP:0006558 Decreased mitochondrial complex III activity in liver tissue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006558 UMLS:C4025022 Decreased activity of complex III of the mitochondrion in the liver. HP:0005220 Multiple intestinal neurofibromatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005220 UMLS:C4025233 HP:0006552 Fibrocystic lung disease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006552 UMLS:C1397290 HP:0005222 Bowel diverticulosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005222 UMLS:C1394691|UMLS:C1395674 Bowel diverticula The presence of multiple diverticula of the intestine. HP:0007885 Slowed horizontal saccades biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007885 UMLS:C1856477 An abnormally slow velocity of horizontal saccadic eye movements. HP:0006554 Acute hepatic failure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006554 SNOMEDCT_US:197270009|MSH:D017114|SNOMEDCT_US:235884008|UMLS:C0162557 Acute liver failure Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver. HP:0005223 Duplicated colon biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005223 UMLS:C1850328 HP:0007881 Central corneal dystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007881 UMLS:C4024778 HP:0007880 Marginal corneal dystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007880 UMLS:C4024779 HP:0030242 Portal vein thrombosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030242 UMLS:C0155773|SNOMEDCT_US:17920008 Blood clot in portal vein Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins. HP:0031573 Tessier number 2 facial cleft biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031573 As is typically seen in isolated cleft cases, a cleft of the lip is present. There is hypoplasia, but not true notching of the ala nasi with flattening of the lateral part of the nose. The nasal root is broadened, with lateral displacement of the inner canthus. The palpebral fissure and lacrimal drainage system are not disturbed. The alveolar cleft is through the lateral incisor area and extends to the pyriform aperture. There is normal septation between the nasal cavity and maxillary sinus. Notching at the junction between the nasal bone is present, as is a broad, flat frontal process of the maxilla. Transverse ethmoid enlargement produces orbital hypertelorism. Above the cleft of the lip and palate is a true broad cleft of the nostril that is medial to the intact, but laterally displaced, tail of the alar cartilage. A shallow soft tissue groove extends superiorly to the asymmetrically widened nasal root. The lacrimal system, palpebral fissures, and eyebrows remain intact. The alveolar cleft extends posteriorly as a complete unilateral cleft of the hard and soft palate. The nasal septum is intact but deviated to the opposite side. The nasal cavity remains separated from the normally pneumatized, although hypoplastic, maxilla on the cleft side. Above the nasomaxillary notching, the ethmoid sinus is less well developed, and there is no pneumatization of the frontal sinus on this side. Anterior rotation of the greater and lesser wings of the sphenoid occurs on the cleft side in relation to the narrower orbit and smaller ethmoid sinus. There is mild asymmetry of the anterior cranial fossa, which is narrower on the cleft side. The cranium is brachycephalic with marked occipital flattening. HP:0031574 Orbital cleft biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031574 A facial cleft characterized by involvement of the orbit. HP:0030243 Hepatic vein thrombosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030243 UMLS:C0019154|SNOMEDCT_US:38739001|MSH:D006502 Hepatic venous thrombosis|Blood clot in liver vein An obstruction in the veins of the liver caused by a blood clot (thrombosis). HP:0031575 Tessier number 3 facial cleft biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031575 As in the Number 1 and Number 2 clefts, this cleft extends through the lip in the region of the typical cleft lip; however, it does not extend through the base. The cleft continues superiorly to involve the inner canthus and lower eyelid medial to the inferior lacrimal punctum, thereby disrupting the nasolacrimal system. Microphthalmia may be present. The alveolar cleft is between the lateral incisor and the canine. Absent septation between the nasal cavity and maxillary antrum, together with the distortion of the frontal process of the maxilla and lacrimal fossa, produces direct communication between the orbit, maxillary sinus, and nose. There is hypoplasia of the soft tissue margins of the cleft in the vertical dimension. This produces extreme soft tissue deficiency between the alar base and the cleft of the medial aspect of the lower eyelid. The inferior lacrimal punctum is evident at the lateral margin of the lower eyelid cleft. The lacrimal drainage system ends as an opening directly onto the cheek without communication into the nasal cavity. The globe is normal in size, but it is displaced inferiorly and laterally. The nasal septum shows the characteristic distortion seen in typical cleft lip and palate. There is absence of septation between the nasal cavity on the cleft side and the maxilla. The maxilla is hypoplastic in three dimensions, with a marked reduction in pneumatization. Superior extension of the skeletal clefting into the medial portion of the orbital floor and into the inferior orbital rim in the region of the frontal process of the maxilla allows direct communication between the orbit above and the nasomaxillary region below. There is mild narrowing of the ethmoid sinus and of the body of the sphenoid on the cleft side. The pterygoid process appears anatomically normal, but less displaced from the midline compared with that of the noncleft side. Both the orbit and the floor of the anterior cranial fossa are inferiorly displaced. HP:0030244 Maternal fever in pregnancy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030244 UMLS:C4021041 Maternal fever during pregnancy The occurence of an elevated body temperature of the mother during pregnancy. HP:0030245 Intrapartum fever biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030245 UMLS:C3829514 Maternal fever during labor The occurence of maternal fever during labor. HP:0031576 Tessier number 4 facial cleft biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031576 The cleft lip is midway between the philtral ridge and the commissure of the mouth. The cleft is lateral to the normally shaped and placed nasal ala and passes onto the cheek. The cleft extends through the lower eyelid lateral to the punctum. The lacrimal system and inner canthus are normal. Microphthalmia may be present. The alveolar cleft passes between the lateral incisor and canine, as in the Number 3 cleft. The cleft passes around the pyriform aperture and continues through the portion of the maxillary sinus medial to the infraorbital foramen. The cleft terminates at the medial end of the inferior orbital rim. There is severe vertical soft tissue deficiency in a Number 4 cleft, with the medial margins of the cleft lip extending directly into the medially placed cleft of the lower eyelid. Within the medial segment of the right-sided cleft lip, muscle elements are apparently absent. Muscle bunching is noted in the ipsilateral lateral lip segment, as is seen in a typical unilateral cleft lip. The anatomically normal nasal ala is superiorly displaced in association with a severe deficiency in the overall nasal length. Marked dystopia of the right globe results in its inferior displacement into the medially deficient orbital floor and inferior rim. Both globes are otherwise normal. The complete palatal cleft passes through the maxilla medial to the infraorbital foramen and extends to the medial portion of the inferior orbital rim without evidence of an intact maxillary sinus. Bony septation persists medially, thereby separating the nasal cavity from the orbit, maxillary sinus, and mouth, which are contiguous. Marked midfacial hypoplasia is present. The cleft is manifest as asymmetry of the body of the sphenoid; it is smaller on the right, with asymmetric placement of the pterygoid plates relative to the midline. The orbital floor cleft has no communication with the inferior orbital fissure. The cleft does not extend to the skull base, but there is marked facial asymmetry associated with plagiocephaly. HP:0031570 Tessier number 0 facial cleft biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031570 Tessier facial cleft number 0 A Number 0 Tessier cleft is a true median cleft lip with a broad columella and bifid nasal tip. The alveolar cleft is between the central incisors. The nasal septum may be thickened, duplicated, or absent. The nasal bridge is usually broad with associated orbital hypertelorism. The midline soft tissue anomaly may range from a mild broadening of the philtrum or there may be a true median cleft lip. The columella and nasal tip are typically bifid and broadened with a midline depression. The alae nasi are intact but laterally displaced. The nose appears shortened in the vertical dimension. HP:0031571 Paramedian facial cleft biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031571 A type of facial cleft located near to but not directly on the midline of the face. HP:0030241 Hypoplasia of deltoid muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030241 UMLS:C1868170 Deltoid muscle hypoplasia Underdevelopment of the deltoid muscle. HP:0031572 Tessier number 1 facial cleft biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031572 As seen in a typical cleft lip, a cleft of the lip is found in the region of the cupid's bow. The nostril is cleft through the alar dome and extends above onto the nasal dorsum. It passes medial to a normal, but dys- topic, medial canthus. There is an alveolar cleft between the central and lateral incisors that extends above through the pyriform margin lateral to the anterior nasal spine; the nasal septum is not involved. The bony cleft extends through the nasal bone or between the junction of the nasal bone and frontal process of the maxilla. Above the cleft lip, the clefting of the alar dome is associated with deviation to the opposite side of the shortened and broadened columella and nasal tip. Extension of the soft tissue cleft onto the nasal dorsum can be manifest as a series of vertical soft tissue furrows and ridges. Vertical inner canthal dysto- pia and severe telecanthus mark the superior aspect of the Number 1 facial cleft. A cranial soft tissue extension characterized by a tongue-like projection of the frontal hairline delineates the number 13 cleft. Skeletal clefting of the maxilla may extend posteriorly to form a complete cleft of the hard and soft palate. The maxilla is hypoplastic in all three dimensions. There is a keel-shaped alveolus and anterior open bite. Normal septation is preserved between the nasal cavity and the hypoplastic maxillary antrum on the affected side. Distortion of the nasal skeleton produces gross flattening of the nasal dorsum. There is asymmetry of the pterygoid plates, of the greater and lesser wings of the sphenoid, and of the floor of the anterior cranial fossa. The distortion of the cranial base may result in a mild plagiocephaly. HP:0031577 Tessier number 5 facial cleft biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031577 The cleft of the lip is just medial to the oral commissure and extends across the cheek as a furrow. It ends as a cleft at the junction of the middle and lateral third of the lower eyelid. Microphthalmia is frequently present. The alveolar cleft is through the premolar region and extends superiorly through the orbit at the inferolateral part of the rim and floor. There is a vertical soft tissue deficiency between the lateral portion of the lip and the lower eyelid cleft. The left side of the nose shows vertical shortening, and the left alar base is displaced superiorly. Facial asymmetry secondary to the skeletal abnormality is reflected by a vertical orbital dystopia. However, bothglobes are normal, and there is no abnormality of the upper eyelids, eyebrow, forehead, or frontal hairline. The skeletal clefts vary, ranging from a narrow skeletal furrow that traverses the anterior maxillary wall as on the rightto a broad cleft of the maxilla lateral to the infraorbital foramen and maxillary sinus. This latter cleft enters the inferolateral orbital rim and floor without posterior communication with the inferior orbital fissure on the left side. Medial collapse of the lateral maxillary segments is present bilaterally, with reduction in the transverse dimensions of the maxillary arch. Manifestations of the skeletal disturbance in the sphenoid include a shortening and thickening of the lateral orbital walls in the region of the greater wing and mild asymmetric placement of the pterygoid plates relative to the midline. The right-sided pterygoid plates are smaller and closer to the midline. There is minimal asymmetry of the cranial base and calvarium. HP:0007898 Exudative retinopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007898 MSH:D058456|SNOMEDCT_US:360455002|SNOMEDCT_US:25506007|UMLS:C0154832 HP:0005235 Jejunal atresia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005235 MSH:D007409|SNOMEDCT_US:204702007|UMLS:C0266175|SNOMEDCT_US:360491009 A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum. HP:0030246 Maternal first trimester fever biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030246 UMLS:C4022561 The occurence of fever in a mother during the first trimester of pregnancy. HP:0006566 Neonatal cholestatic liver disease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006566 UMLS:C1859162 HP:0005236 Chronic calcifying pancreatitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005236 UMLS:C4025231 A form of chronic pancreatitis that is characterized by calcification. HP:0031578 Tessier number 6 facial cleft biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031578 Tessier facial cleft number 6 A facial cleft extending from the zygomatic arch to the eye. This zygomaticomaxillary cleft is similar to that typically found in Treacher Collins syndrome. The overlying tissue shows a vertical sclerodermic furrow radiating from the labial commissure or the angle of the mandible across the cheek to a coloboma of the lower eyelid between the middle and lateral one-third. Microphthalmia is not observed. The skeletal cleft is between the maxilla and zygoma; it passes through the inferolateral orbital rim to enter the inferior orbital fissure. No alveolar cleft is present. The zygomatic arch is intact. The soft tissue furrow, which is more apparent on the right, radiates from the oral commissure toward the lateral two-thirds of the lower eyelid. The antimongoloid obliquity of the palpebral fissures is associated with laterally placed lower eyelid clefts and some ectropion. A left-sided anophthalmia is accompanied by adjacent soft tissue hypoplasia and is reflected in a short palpebral fissure, enophthalmos, and minor ptosis of the eyebrow. No abnormality is present in the alveolar arch except for some tilting of the occlusal plane secondary to hypoplasia of the left side of the maxilla. There is a vertical bony groove in the region of the zygomaticomaxillary suture that ends in the inferolateral portion of a small bony orbit. More laterally, the remainder of the zygomatic body and arch is normal in both shape and dimension. The lateral orbital floor is downslanting but intact, and it lacks direct communication with the temporal or infratemporal fossae. The hypoplasia of the left side of the maxilla and orbit is associated with a reduction in the transverse and anteroposterior dimensions of the anterior cranial fossa; mild asymmetry of the middle cranial fossa and calvarium is present. No significant asymmetry of size, shape, or position is present in the sphenoid. HP:0030247 Splanchnic vein thrombosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030247 UMLS:C4022560 Blood clot in splanchnic vein The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity). HP:0006568 Increased hepatic glycogen content biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006568 UMLS:C1856285 Increased liver glycogen content An increase in the amount of glycogen stored in hepatocytes compared to normal. HP:0030248 Mesenteric venous thrombosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030248 UMLS:C0267412|SNOMEDCT_US:95446005|MSH:D065666 Blood clot in mesentertic vein A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine). HP:0031579 Tessier number 7 facial cleft biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031579 Tessier facial cleft number 7|Tessier cleft number 7 The temporozygomatic Number 7 cleft is found in both Treacher Collins syndrome and hemifacial microsomia. Soft tissue manifestations include macrostomia, malformations of the external and middle ear, temporalis muscle, variable involvement of the seventh cranial nerve (in hemifacial microsomia), and abnormalities of the preauricular hair in Treacher Collins syndrome. The skeletal cleft is through the pterygomaxillary junction, and vertical maxillary hypoplasia is present. In addition, abnormality of the mandibular ramus, coronoid, and condyle and absence of the zygomatic arch are typically present. A soft tissue furrow extends from the macrostomia laterally and superiorly across the cheek toward the preauricular hairline. The lower eyelids are intact. The anatomy of the external ear is normal, and there are no preauricular tags. Bony clefting is through the pterygomaxillary junction with hypoplasia of the alveolar process in the molar region, thereby producing a posterior open bite. The maxilla is hypoplastic, although the maxillary sinuses are symmetrically pneumatized. The hypoplastic zygomatic body arches upward, but then it takes a downward course and is severely malformed and displaced. The zygoma is continuous posteriorly with an apparently normal zygomatic process of the temporal bone. The mandibular condyle and coronoid process are hypoplastic and asymmetric. There is no antegonial notching of the mandible. Marked cranial base asymmetry, with tilting and asymmetric positioning of the temporomandibular articulations, is present. The anatomy of the sphenoid is abnormal, especially on the right where there is no recognizable medial or lateral pterygoid plate. HP:0005237 Degenerative liver disease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005237 UMLS:C4025230 The presence of degenerative changes of the liver. HP:0005238 Discrete intestinal polyps biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005238 UMLS:C4025229 HP:0030249 Enanthema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030249 UMLS:C0014034|SNOMEDCT_US:5862001 A sudden eruption (rash) of the surface of a mucous membrane of the mouth or pharynx. HP:0007899 Retinal nonattachment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007899 UMLS:C4021563 Congenital retinal non-attachment Failure of attachment of the retina during development. HP:0006562 Viral hepatitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006562 UMLS:C0042721|SNOMEDCT_US:3738000 Inflammation of the liver due to infection with a virus. HP:0007894 Hypopigmentation of the fundus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007894 UMLS:C0151891|SNOMEDCT_US:95694000 Decreased fundus pigmentation|Fundus hypopigmentation 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). HP:0005231 Chronic gastritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005231 SNOMEDCT_US:8493009|UMLS:C0085695 A chronic form of gastritis. HP:0006563 Malformation of the hepatic ductal plate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006563 UMLS:C1857519 HP:0005232 Pancreatic dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005232 UMLS:C4019084 The presence of developmental dysplasia of the pancreas. HP:0007893 obsolete Progressive retinal degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007893 HP:0005233 Hypoplasia of the gallbladder biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005233 SNOMEDCT_US:93259002|UMLS:C0345282 Hypoplastic gallbladder The presence of a hypoplastic gallbladder. HP:0006564 Fluctuating hepatomegaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006564 UMLS:C1835881 Intermittently increased size of the liver. HP:0005234 Neonatal intestinal obstruction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005234 UMLS:C0859974 HP:0006565 Increased hepatocellular lipid droplets biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006565 UMLS:C4025021 An abnormal increase in the amount of intracellular lipid droplets in hepatocytes. HP:0007892 Hypoplasia of the lacrimal punctum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007892 UMLS:C4021564 Hypoplastic lacrimal puncta|Hypoplasia of the lacrimal puncta Underdevelopment of the lacrimal puncta. HP:0006560 Biliary hyperplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006560 UMLS:C3686778|UMLS:C3672440 Bile duct 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. HP:0005230 Biliary tract obstruction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005230 UMLS:C0400979|SNOMEDCT_US:235918000 Obstruction affecting the biliary tree. HP:0006561 Lipid accumulation in hepatocytes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006561 UMLS:C1837257 HP:0005290 Internal carotid artery hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005290 UMLS:C4280493|UMLS:C1855736|UMLS:C4280492|UMLS:C4280491 Aplasia of internal carotid artery|Hypotrophic internal carotid artery|Decreased size of internal carotid artery|Deficiency of internal carotid artery|Small internal carotid artery HP:0005291 Inflammatory arteriopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005291 UMLS:C4025222 HP:0005292 Intimal thickening in the coronary arteries biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005292 UMLS:C1968633 HP:0032830 Neonatal seizure with bilateral asymmetric automatism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032830 Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with coordinated motor activity, typically oral, usually with impaired awareness, occurring at both sides of the body asymmetrically. HP:0031504 Foamy urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031504 Frothy urine Urine has an increased amount of frothy fine bubbles. HP:0032836 Neonatal bilateral symmetric myoclonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032836 Neonatal bilateral symmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body symmetrically. HP:0031505 Abnormal circulating T4 level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031505 Abnormal circulating thyroxine level A deviation from the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3). HP:0032835 Neonatal seizure with bilateral symmetric automatism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032835 Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at both sides of the body symmetrically. HP:0032838 Neonatal unilateral epileptic spasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032838 Neonatal unilateral epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs at one side of the body. HP:0031506 Increased circulating T4 level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031506 Increased circulating thyroxine level An elevation above the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3). HP:0031507 Decreased circulating T4 level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031507 Reduced T4 plasma level|Decreased circulating thyroxine level A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3). HP:0032837 Bilateral asymmetric neonatal sequential seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032837 Asymmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting asymmetrically with a variety of clinical and electrographic signs, often changing lateralization within or between seizures. HP:0032832 Neonatal bilateral asymmetric myoclonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032832 Neonatal bilateral asymmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body asymmetrically. HP:0031500 Abdominal mass biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031500 An abnormal enlargement or swelling in the abdomen. HP:0031501 Pelvic mass biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031501 An abnormal enlargement or swelling in the pelvic region. HP:0032831 Neonatal bilateral asymmetric tonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032831 Neonatal bilateral asymmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body but asymmetrically. HP:0032834 Neonatal seizure with unilateral automatism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032834 Neonatal seizure with bilateral asymmetric automatisms is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at one side of the body. HP:0031502 Trophoblastic tumor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031502 Trophoblastic tumour A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells [NCIT:C3422]. HP:0032833 Neonatal epileptic spasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032833 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. HP:0031503 Night gasping biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031503 Waking up at night gasping for breath. HP:0005288 Abnormality of the nares biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0005288 UMLS:C4021637 Deformity of the nares|Anomaly of the nares|Malformation of the nares|Malformation of the nostrils|Deformity of the nostrils|Abnormality of the nostrils Abnormality of the nostril. HP:0005289 Abnormality of the nasolabial region biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005289 UMLS:C4025223 Deformity of the nasolabial region|Malformation of the nasolabial region|Anomaly of the nasolabial region HP:0031508 Abnormal thyroid hormone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031508 Any deviation from the normal range of the hormones produced by the thyroid gland. HP:0031509 Dry nipple biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031509 Abnormally dry skin in the area of the nipple of the breast. HP:0032839 Bilateral symmetric neonatal sequential seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032839 Symmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting symmetrically but with a variety of clinical and electrographic signs. HP:0005285 Absent nasal bridge biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005285 UMLS:C1837888 Missing bridge of nose|Agenesis of nasal bridge|Absent nasal bridge|Agenesis of bridge of nose|Missing nasal bridge|Absent bridge of nose HP:0032841 Neonatal bilateral asymmetric epileptic spasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032841 Neonatal bilateral asymmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs asymmetrically at both sides of the body. HP:0031510 Linear earlobe crease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031510 A transverse linear fissure (crease) in the lobule of the ear. HP:0032840 Neonatal bilateral symmetric epileptic spasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032840 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. HP:0031515 Abnormal meiosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031515 Any anomaly of meiosis, a type of cell division that reduces the number of chromosomes in the parent cell by half and produces four gamete cells. HP:0032847 Focal impaired awareness hemifacial clonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032847 Focal seizure characterized at onset by clonic movements affecting half of the face with impairment of awareness in which awareness is impaired at some point during the seizure. HP:0032846 Focal motor seizure with negative myoclonus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032846 A type of focal motor seizure characterized by a sudden interruption in normal tonic muscle activity lasting 500 ms or less, without evidence of preceding myoclonus as the initial semiological manifestation. The interruption in muscle tone is briefer than seen in a focal atonic seizure. HP:0031516 Oocyte arrest at metaphase I biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031516 Metaphase I oocyte meiotic arrest|Oocyte meiotic arrest at metaphase I Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage. HP:0032849 Aphasic status epilepticus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032849 Aphasic status epilepticus is a type of focal non-convulsive status epilepticus without coma characterized by a cognitive (rather than motor) language deficit. HP:0031517 Verruciform xanthoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031517 A papillary or cauliflower-like growth characterized by the presence of foamy histiocytes within the elongated dermal papillae forms. HP:0032848 Focal aware cognitive seizure with neglect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032848 A focal cognitive seizure with neglect characterized by retained awareness throughout the seizure. HP:0031518 Absent posterior alpha rhythm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031518 Lack of normal alpha rhythm in the EEG. Alpha rhythm has been defined as a rhythm at 8-13 Hz occurring during wakefulness over the posterior regions of the head, generally with higher voltage over the occipital areas. Amplitude is variable but is mostly below 50 microvolt in adults. It is best seen with eyes closed and under conditions of physical relaxation and relative mental inactivity. It is blocked or attenuated by attention, especially visual and mental effort. One should here note the difference between the terms alpha rhythm and alpha activity: Alpha activity refers to activity in the range of 8-13 Hz and alpha rhythm is the activity of 8-13 Hz with specific characteristics as defined above. HP:0032843 Focal-onset epileptic spasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032843 Focal onset epileptic spasm A type of epileptic spasm of focal onset. HP:0031511 Diagonal earlobe crease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031511 Diagonal earlobe creases run from the lower pole of the external meatus, diagonally backwards to the edge of the lobe at approximately 45 degrees. HP:0032842 Generalized-onset epileptic spasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032842 Generalized onset epileptic spasm|Generalised-onset epileptic spasm|Generalised onset epileptic spasm A type of epileptic spasm of generalized onset. HP:0031512 Abnormal cutaneous collagen fibril morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031512 HP:0032845 Focal aware epileptic spasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032845 A type of focal-onset epileptic spasm in which awareness is preserved throughout the seizure. HP:0031513 Luse bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031513 Fusiform collagen fibers with abnormally long spacing (exceeding 100 nm) between electron-dense bands. HP:0031514 Increased proportion of exhausted T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031514 An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells. HP:0032844 Focal impaired awareness epileptic spasm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032844 A type of focal-onset epileptic spasm in which awareness is impaired at some point during the seizure. HP:0005297 Premature occlusive vascular stenosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005297 UMLS:C1867457 Peripheral arterial stenosis with onset before the age of 50 years. HP:0005298 obsolete Atrioventricular canal defect with right ventricle aorta and pulmonary atresia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005298 HP:0005299 obsolete Premature peripheral vascular disease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005299 HP:0005293 Venous insufficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005293 SNOMEDCT_US:20696009|MSH:D014689|UMLS:C0042485 Poorly functioning veins HP:0031519 Cauliflower deformity of dermal collagen fibrils biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031519 An anomaly of collagen fibers of the skin that is said to resemble a cauliflower and can be appreciated by electron microscopy. HP:0005294 Arterial dissection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005294 SNOMEDCT_US:9406001|SNOMEDCT_US:26845001|SNOMEDCT_US:233992003|UMLS:C0002949|SNOMEDCT_US:710864009|MSH:D000784 A separation (dissection) of the layers of an artery. HP:0005295 Pseudocoarctation of the aorta biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005295 SNOMEDCT_US:70602002|UMLS:C0345088 Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum. HP:0005296 obsolete Occlusive vascular disease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005296 HP:0032850 Focal aware cognitive seizure with expressive dysphasia/aphasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032850 A focal cognitive seizure with expressive dysphasia / aphasia characterized by retained awareness throughout the seizure. HP:0032852 Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032852 A focal cognitive seizure with conduction dysphasia / aphasia characterized by impairment of awareness at some point during the seizure. HP:0031520 Groin pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031520 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the groin region. HP:0031521 Vaginal clear cell adenocarcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031521 Clear cell adenocarcinoma of the vagina A type of adenocarcinoma originating in the vagina and characterized by large cells with moderate to abundant clear cytoplasm. HP:0032851 Focal aware sensory seizure with visual features biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032851 A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis. HP:0032858 Focal impaired awareness motor seizure with negative myoclonus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032858 Focal motor impaired awareness seizure with negative myoclonus A focal motor seizure with negative myoclonus characterized by impairement of awareness at some point during the seizure. HP:0031526 Subretinal fluid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031526 Sub-retinal fluid Edema/fluid accumulating between the retinal pigment epithelium and Bruch's membrane. HP:0031527 Intraretinal fluid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031527 Intra-retinal fluid Edema/fluid accumulating within the retinal layers. HP:0032857 Focal aware motor seizure with negative myoclonus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032857 Focal motor aware seizure with negative myoclonus A focal motor seizure with negative myoclonus characterized by retained awareness throughout the seizure. HP:0031528 Subretinal deposits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031528 Deposits accumulating between the outer retina and the retinal pigment epithelium. HP:0031529 Focal subretinal deposits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031529 Deposits accumulating between the outer retina and the retinal pigment epithelium and that have a focal distribution. HP:0032859 Focal impaired awareness motor seizure with paresis/paralysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032859 Focal motor impaired awareness seizure with paresis/paralysis A focal motor seizure with paresis / paralysis characterized by impaired awareness at some point during the seizure. HP:0005268 Spontaneous abortion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005268 UMLS:C0000786|SNOMEDCT_US:17369002|MSH:D000022 Miscarriage A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 20th week of pregnancy. HP:0032854 Focal aware hemifacial clonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032854 Focal seizure characterized at onset by clonic movements affecting half of the face with retained awareness throughout. HP:0031522 Cervical clear cell adenocarcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031522 Clear cell carcinoma of cervix A type of adenocarcinoma originating in the cervix and characterized by large cells with moderate to abundant clear cytoplasm. HP:0006599 Medial widening of clavicles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006599 UMLS:C1866729 HP:0032853 Focal impaired awareness sensory seizure with hot-cold sensations biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032853 A focal sensory seizure with hot-cold sensations in which awareness is partially or fully impaired at some point during the seizure. HP:0031523 Salivary gland oncocytoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031523 Parotid oncocytoma A benign epithelial neoplasm composed of layers of oncocytes (small round nucleus, micro-granular, eosinophilic cytoplasm with numerous tightly-packed mitochondria) HP:0032856 Focal aware bilateral motor seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032856 A type of focal bilateral motor seizure during which awareness is fully retained throughout. HP:0031524 Ampulla of Vater carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031524 A carcinoma originating in the ampulla of Vater (also known as the hepatopancreatic duct), which is formed by the union of the pancreatic duct and the common bile duct. HP:0032855 Photosensitive myoclonic-tonic-clonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032855 Photically induced myoclonic-tonic-clonic seizure Generalised myoclonic-tonic-clonic seizure provoked by flashing or flickering light. HP:0031525 Keratoacanthoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031525 Keratoacanthoma (KA) is a common benign epithelial tumour that originates from the pilosebaceous glands. In most cases, it is characterized by rapid evolution, followed by spontaneous resolution over 4 to 6 months. KA usually presents as a solitary flesh-coloured nodule with a central keratin plug on the sun-exposed skin of elderly individuals. HP:0006595 Scapulohumeral synostosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006595 UMLS:C1865362 Humeroscapular synostosis|Synostosis of shoulder joint|Humero-scapulo synostosis|Fusion of shoulder blade to long bone in upper arm Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint. HP:0005264 Abnormality of the gallbladder biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005264 SNOMEDCT_US:253803008|SNOMEDCT_US:49714001|UMLS:C0266249 Abnormality of the gallbladder|Anomaly of the gallbladder An abnormality of the gallbladder. HP:0005265 Abnormal jejunum morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005265 UMLS:C4025224 Abnormality of the jejunum An abnormality of the jejunum, i.e., of the middle section of the small intestine. HP:0006596 Restricted chest movement biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006596 UMLS:C4025015 Restricted chest movement HP:0006597 Diaphragmatic paralysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006597 MSH:D012133|SNOMEDCT_US:64228003|UMLS:C0035232 Paralyzed diaphragm|Diaphragmatic paralysis The presence of a paralyzed diaphragm. HP:0005266 Intestinal polyp biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005266 MSH:D007417|UMLS:C0021846|SNOMEDCT_US:254588001 Intestinal polyps 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. HP:0006598 Irregular ossification at anterior rib ends biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006598 UMLS:C1850083 HP:0005267 Premature delivery because of cervical insufficiency or membrane fragility biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005267 UMLS:C1851808 HP:0006591 Absent glenoid fossa biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006591 UMLS:C4021589 Aplasia of the glenoid fossa Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus. HP:0005261 Joint hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005261 SNOMEDCT_US:81808003|MSH:D006395|UMLS:C0018924 Joint haemorrhage|Bleeding within a joint|Hemarthroses|Spontaneous joint hemorrhage|Hemarthrosis Hemorrhage occurring within a joint. HP:0005262 Abnormality of the synovia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005262 UMLS:C4025225 HP:0006593 Anomalous rib insertion to vertebrae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006593 UMLS:C1861704 HP:0005263 Gastritis biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0005263 UMLS:C0017152|SNOMEDCT_US:4556007|MEDDRA:10017853|MSH:D005756 Stomach inflammation The presence of inflammation of the gastric mucous membrane. HP:0005280 Depressed nasal bridge biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0005280 UMLS:C4280495|UMLS:C3550546|UMLS:C1836542 Retruded bridge of nose|Low nasal bridge|Flat bridge of nose|Depressed bridge of nose|Flat nasal bridge|Depressed nasal bridge|Depressed nasal root|Concave nasal bridge|Flat nasal root|Low nasal root|Retruded nasal bridge|Depressed nasal root/bridge|Flattened nasal bridge|Concave bridge of nose|Flat, nasal bridge Posterior positioning of the nasal root in relation to the overall facial profile for age. HP:0005281 Hypoplastic nasal bridge biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005281 UMLS:C4280494|UMLS:C1865597 Hypotrophic nasal bridge|Hypotrophic bridge of nose|Hypoplastic bridge of nose|Decreased size of bridge of nose|Small nasal bridge|Decreased size of nasal bridge|Small bridge of nose HP:0032861 Focal non-convulsive status epilepticus with impairment of consciousness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032861 Focal non-convulsive status epilepticus with impairment of awareness Focal non-convulsive status epilepticus with impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness is impaired. HP:0031530 Multifocal subretinal deposits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031530 Deposits accumulating between the outer retina and the retinal pigment epithelium and that are distributed with multiple foci. HP:0032860 Generalized non-convulsive status epilepticus without coma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032860 Generalised non-convulsive status epilepticus without coma|Absence status epilepticus|Petit mal status epilepticus 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. HP:0030200 Fatiguable weakness of proximal limb muscles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030200 UMLS:C4022583 A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. HP:0032863 Typical absence status epilepticus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032863 Simple absence status epilepticus Typical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged typical absence seizure. HP:0031531 Sub-RPE deposits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031531 Deposits accumulating between the retinal pigment epithelium and Bruch's membrane. HP:0032862 Status epilepticus with ictal paresis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032862 Focal inhibitory status epilepticus A type of focal motor status epilepticus characterized by prolonged ictal paresis or inhibitory motor seizures. HP:0031532 Focal sub-RPE deposits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031532 Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in a single focus. HP:0030201 Response to drugs acting on neuromuscular transmission biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030201 UMLS:C4022582 Specific drugs interfere selectively with the different cellular mechanisms involved in neuromuscular transmission (synthesis, storage, release, action and inactivation of transmitter). The response of a patient to a specific drug can therefore be useful information for the differential diagnosis. HP:0032869 Focal non-convulsive status epilepticus without impairment of consciousness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032869 Focal non-convulsive status epilepticus without impairment of awareness|Focal non-convulsive status epilepticus with retained awareness|Aura continua Focal non-convulsive status epilepticus without impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness remains intact. HP:0031537 Anomalous origin of the left circumflex artery from the right coronary artery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031537 An abnormal origin of the left circumflex artery (LCX) from the right coronary artery. Normally, the left anterior descending (LAD) and the LCX arise from a common stem, the left main coronary artery (LMCA). HP:0030206 EMG: incremental response of compound muscle action potential to repetitive nerve stimulation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030206 UMLS:C4022579 A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to an abnormal increase in the amplitude during the course of the investigation. HP:0030207 Paradoxical respiration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030207 SNOMEDCT_US:12025005|UMLS:C0016196|UMLS:C0231852|SNOMEDCT_US:78011002|MSH:D005409 Flail chest|Paradoxical breathing Breathing movements in which the chest wall moves in on inspiration and out on expiration, in reverse of the normal movements. It may be seen in children with respiratory distress of any cause, which leads to indrawing of the intercostal spaces during inspiration. Patients with chronic airways obstruction also show indrawing of the lower ribs during inspiration, due to the distorted action of a depressed and flattened diaphragm. Crush injuries of the chest, with fractured ribs and sternum, can lead to a severe degree of paradoxical breathing. HP:0032868 Super-refractory status epilepticus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032868 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. HP:0031538 Abnormal dermoepidermal junction morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031538 Any anomaly of the structure of the acellular zone that is between the dermis and the epidermis and which functions to bind the epidermis to the dermis and to serve as a selective barrier allowing the control of molecular and cellular exchanges between the two compartments. HP:0030208 Acetylcholine receptor antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030208 UMLS:C4022578 The presence of autoantibodies (immunoglobulins) in the serum that react against the acetylcholine receptor. HP:0031539 Linear IgA deposits along the epidermal basement membrane zone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031539 Presence of IgA antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy. HP:0030209 Calcium channel antibody positivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030209 UMLS:C4022577 Ca2+ channel antibody positivity|Ca channel antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels. HP:0030202 Favorable response of weakness to acetylcholine esterase inhibitors biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030202 UMLS:C4022581 Favourable response of weakness to acetylcholine esterase inhibitors Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor. HP:0031533 Multifocal sub-RPE deposits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031533 Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in multiple foci. HP:0032865 Myoclonic absence status epilepticus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032865 Myoclonic absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged myoclonic absence seizure. Myoclonic absence status epilepticus consists of proximal, predominantly upper extremity myoclonic jerks corresponding with 3 Hz spike-wave discharges in the EEG. HP:0031534 Passive dorsiflexion of the 5th finger more than 90 degrees biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031534 An abnormally increased ability to bend (dorsiflex) one's fifth finger. To assess this feature, the examiner requests to proband to extend the elbows,to bend the wrist back so that it forms a ninety degree angle to the forearm, and to extend the fingers. Then, the proband is requested to bend the fifth finger back as far as is possible without discomfort. If the angle of the fifth finger exceeds 90 degrees, this is considered to be abnormal. HP:0032864 Focal aware sensory seizure with auditory features biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032864 A type of focal sensory seizure with auditory features during which awareness is retained throughout the seizure. HP:0030203 Unfavorable response of muscle weakness to acetylcholine esterase inhibitors biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030203 UMLS:C4022580 Unfavourable response of muscle weakness to acetylcholine esterase inhibitors Lack of improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor. HP:0032867 Refractory status epilepticus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032867 Refractory status epilepticus is defined as status epilepticus continuing despite two appropriately selected and dosed antiepileptic drugs, including a benzodiazepine. HP:0031535 Increased theta frequency activity in EEG biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031535 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. HP:0032866 Oculoclonic status epilepticus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032866 A type of focal motor status epilepticus characterized by repetitive and rapid saccades, in association with epileptic discharges. HP:0030205 Increased jitter at single fiber EMG biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030205 UMLS:C4021045 Increased jitter at single fibre electromyography|Increased jitter at single fibre EMG The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG). HP:0031536 Separate origin of the left anterior descending and left circumflex artery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031536 Anomalous coronary origin whereby the left anterior descending (LAD) and the left circumflex artery (LCX) arise separately. Normally, these arteries arise from a common stem, the left main coronary artery (LMCA). HP:0005275 Cartilaginous ossification of nose biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005275 UMLS:C1855616 Cartilaginous nasal ossification HP:0005278 Hypoplastic nasal tip biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005278 UMLS:C4280497|UMLS:C4280496|UMLS:C1844731 Deficient nasal tip|Hypoplasia of tip of nose|Underdevelopment of nasal tip|Hypotrophic nasal tip|Aplasia of nasal tip|Decreased size of nasal tip|Small tip of nose|Small nasal tip|Underdevelopment of tip of nose|Decreased size of tip of nose|Hypotrophic tip of nose HP:0005272 Prominent nasolabial fold biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0005272 UMLS:C1866487 Deep smile lines|Nasolabial crease, prominent|Deep nasolabial groove|Prominent laugh lines|Deep nasolabial crease|Prominent smile lines|Deep nasolabial fold|Prominent nasolabial groove|Deep laugh lines 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). HP:0005273 Absent nasal septal cartilage biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0005273 UMLS:C4021638|UMLS:C4280501 Absent nasal septal cartilage|Ageneis of nasal septal cartilage|Absent nasal septum|Failure of development of nasal septal cartilage Lack of the cartilage of the nasal septum. HP:0005274 Prominent nasal tip biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005274 UMLS:C4280499|UMLS:C4280498|UMLS:C1856118|UMLS:C4280500 Bulbous tip of nose|Hyperplasia of nasal tip|Hypertrophy of tip of nose|Prominent nasal tip|Hypertrophy of nasal tip|Pronounced tip of nose|Large tip of nose|Prominent tip of nose|Hyperplasia of tip of nose|Large nasal tip|Pronounced nasal tip HP:0007829 obsolete Diffuse retinal cone degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007829 HP:0007825 obsolete Cataracts develop in second or third decade biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007825 HP:0007824 Total ophthalmoplegia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007824 SNOMEDCT_US:78097002|UMLS:C0155338 Complete ophthalmoplegia|Total internal and external ophthalmoplegia|Global paralysis of gaze Paralysis of both the extrinsic and intrinsic ocular muscles. HP:0007827 Nodular corneal dystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007827 UMLS:C4024792 HP:0007820 Lacrimal punctal atresia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007820 UMLS:C1863201 Atretic lacrimal punctum|Atretic lacrimal puncta Congenital absence or closure of the opening of the lacrimal punctum. HP:0007822 Central retinal exudate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007822 UMLS:C4024793 HP:0006508 Abnormality of tibial epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006508 UMLS:C4025030 Abnormality of end part of shinbone HP:0006509 Diverticulosis of trachea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006509 UMLS:C0340213|SNOMEDCT_US:14011008 Paratracheal air cyst|Tracheal diverticulum|Tracheocele|Tracheal diverticulosis Tracheal diverticula are blind-ended outpouchings arising from the trachea. They are usually an incidental finding. Occasionally they can mimic pneumomediastinum. Tracheal diverticula are either congenital or acquired, in the latter case the most common causes are prolonged increased intraluminal pressure, e.g. chronic cough, COPD, tracheomalacia, and iatrogenic (e.g. post-surgical). HP:0007836 Mosaic corneal dystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007836 UMLS:C4024786 HP:0006504 obsolete Anomaly of the limb diaphyses morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006504 Abnormality of shaft of long bone of the limbs HP:0032803 Focal impaired awareness cognitive seizure with dysgraphia/agraphia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032803 A focal cognitive seizure with dysgraphia / agraphia characterized by impairment of awareness at some point during the seizure. HP:0007835 S-shaped palpebral fissures biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007835 UMLS:C4024787 S-shaped eyes|S-shaped opening between the eyelids HP:0006505 Abnormality of limb epiphysis morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006505 UMLS:C4021593 Abnormality involving the epiphyses of the limbs|Abnormal shape of end part of limb bones An anomaly of one or more epiphyses of a limb. HP:0032802 Focal impaired awareness cognitive seizure with dyscalculia/acalculia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032802 A focal cognitive seizure with dyscalculia / acalculia characterized by impairment of awareness at some point during the seizure. HP:0032805 Focal impaired awareness sensory seizure with vestibular features biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032805 A focal sensory seizure with vestibular features in which awareness is partially or fully impaired at some point during the seizure. HP:0007838 Progressive ptosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007838 UMLS:C1834015 Progressive drooping of upper eyelid A progressive form of ptosis. HP:0006507 Aplasia/hypoplasia of the humerus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006507 UMLS:C4025031 Absent/small long bone in upper arm|Absent/underdeveloped long bone in upper arm Absence (due to failure to form) or underdevelopment of the humerus. HP:0032804 Focal impaired awareness sensory seizure with olfactory features biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032804 A focal sensory seizure with olfaction in which awareness is partially or fully impaired at some point during the seizure. HP:0007832 Pigmentation of the sclera biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007832 UMLS:C1859882 Pigmentation of the outer white part of the eyeball HP:0006500 Abnormality of lower limb epiphysis morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006500 UMLS:C4021595 Abnormality involving the epiphyses of the lower limbs|Abnormal shape of end part of lower limb end bone An anomaly of one or more epiphyses of one or both legs. HP:0006501 Aplasia/Hypoplasia of the radius biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006501 UMLS:C2749463 Radial aplasia/hypoplasia|Absence or underdevelopment of the radius bone of the arm|Absent/small radius|Absent/underdeveloped radius A small/hypoplastic or absent/aplastic radius. HP:0007831 Nonprogressive restrictive external ophthalmoplegia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007831 UMLS:C4024789 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. HP:0007834 Progressive cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007834 UMLS:C4021566 Cataract, progressive A kind of cataract that progresses with age. HP:0006502 Aplasia/Hypoplasia involving the carpal bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006502 UMLS:C4025033 Absent/small wrist bones|Absent/underdeveloped wrist bones Absence or underdevelopment of the carpal bones. HP:0032801 Focal impaired awareness cognitive seizure with memory impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032801 A focal cognitive seizure with memory impairment characterized by impairment of awareness at some point during the seizure. HP:0006503 Aplasia/hypoplasia involving forearm bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006503 UMLS:C4025032 Absent/small forearm bones|Absent/underdeveloped forearm bones Absence (due to failure to form) or underdevelopment of one or more forearm bones. HP:0032800 Focal aware sensory seizure with vestibular features biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032800 A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation. HP:0007833 Anterior chamber synechiae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007833 UMLS:C4024788 HP:0007830 Adult-onset night blindness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007830 UMLS:C4024790 Adult-onset night blindness Inability to see well at night or in poor light with onset in adulthood. HP:0032807 Neonatal seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032807 A seizure occurring within the neonatal period (28 days beyond the full term date). HP:0032806 Focal impaired awareness sensory seizure with visual features biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032806 A focal sensory seizure with visual features in which awareness is partially or fully impaired at some point during the seizure. HP:0032809 Neonatal electro-clinical seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032809 Neonatal electro-clinical seizure is an electrographic event occurring in neonatal period and coupled with a clinical manifestation. HP:0032808 Neonatal seizure with electrographic correlate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032808 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. HP:0007807 Optic nerve compression biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007807 UMLS:C0271344|SNOMEDCT_US:72983001 HP:0007809 Punctate corneal dystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007809 UMLS:C4024796 HP:0007808 obsolete Bilateral retinal coloboma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007808 HP:0032814 Neonatal electro-clinical clonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032814 Neonatal electroclinical 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. HP:0007803 Monochromacy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007803 MSH:D003117|UMLS:C0152200|SNOMEDCT_US:56852002|UMLS:C1857618|MSH:C536128 Complete achromatopsia|Total colorblindness Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray. HP:0032813 Neonatal electro-clinical motor seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032813 Neonatal electro-clinical motor seizure is a type of neonatal electro-clinical seizure with predominant motor features. HP:0007802 Granular corneal dystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007802 UMLS:C0018179|MSH:D003317|SNOMEDCT_US:45283008 The presence of central, fine, whitish granular lesions in the stroma of the cornea. This type of corneal dystrophy is usually asymptomatic and begins in childhood and shows a slow progression. Later in the course, the corneal epithelium and Bowman's layer may be affected. Histologically, the cornea shows a uniform deposition of hyaline material. HP:0032816 Neonatal multifocal myoclonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032816 Neonatal multifocal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at multiple sites. HP:0032815 Neonatal electro-clinical myoclonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032815 Neonatal electroclinical myoclonic seizure Neonatal electro-clinical myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). HP:0032810 Focal sensory seizure with cephalic sensation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032810 Focal seizure with cephalic sensation|Partial seizure with cephalic sensation|Cephalic aura A seizure characterized by a sensation in the head such as light-headedness or headache as its first clinical manifestation. HP:0007801 obsolete Fishnet retinal pigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007801 HP:0032812 Neonatal electro-clinical non-motor seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032812 HP:0007800 Increased axial length of the globe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007800 UMLS:C1835117 Globe elongated|Increased front to back length of eyeball|Increased axial globe length Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean. HP:0032811 Neonatal electrographic only seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032811 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. HP:0032818 Neonatal focal clonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032818 Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is unilateral regularly repeating jerking involving the same muscle groups. HP:0032817 Neonatal focal myoclonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032817 Neonatal focal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) which occurs focally. HP:0032819 Neonatal bilateral clonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032819 Neonatal bilateral clonic seizure is a type of neonatal electro-clinical clonic seizure where the clonic jerking is bilateral. HP:0007818 Central heterochromia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007818 UMLS:C4021567 Ring iris heterochromia The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone. HP:0007817 Horizontal supranuclear gaze palsy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007817 UMLS:C4024794 A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. HP:0007819 Presenile cataracts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007819 SNOMEDCT_US:441622000|UMLS:C0154971 Presenile cataract Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual. HP:0007814 Retinal pigment epithelial mottling biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007814 UMLS:C1857644 Retinal pigment epithelium irregularity|Salt and pepper retinopathy|Focal hypopigmentation of the retinal pigment epithelium|RPE mottling|Salt and pepper retinal pigmentation|RPE irregularity Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium. HP:0032825 Neonatal electro-clinical sequential motor seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032825 Neonatal electroclinical sequential motor seizure Neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic signs, often changing lateralization within or between seizures. HP:0007813 Nongranulomatous uveitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007813 UMLS:C4024795 A form of uveitis that is not associated with the formation of granulomas. HP:0032824 Neonatal focal tonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032824 Neonatal focal tonic seizure is a type of neonatal electro-clinical tonic seizure with a focal sustained increase in muscle tone, lasting a few seconds to minutes. HP:0032827 Multifocal neonatal sequential seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032827 Multifocal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic multifocal signs. HP:0007815 Abnormal distribution of retinal arterioles and venules biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007815 UMLS:C3277463 HP:0032826 Focal neonatal sequential seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032826 Focal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic focal signs, often changing lateralization within or between seizures. HP:0007810 obsolete Progressive bifocal chorioretinal atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007810 HP:0032821 Neonatal electro-clinical tonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032821 Neonatal electro-clinical tonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a sustained increase in muscle tone, usually focal, that can be unilateral or bilateral, and lasting a few seconds to minutes. HP:0032820 Neonatal multifocal clonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032820 Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups, which occurs at multiple sites. HP:0032823 Neonatal electro-clinical seizure with behavior arrest biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032823 Neonatal electroclinical seizure with behavioural arrest|Neonatal electro-clinical seizure with behaviour arrest Neonatal electro-clinical non-motor seizure with behavior arrest is a type of neonatal electro-clinical seizure characterized by an arrest of activities, freezing, immobilization, with or without apnea and/or other autonomic manifestations. HP:0007812 Herpetiform corneal ulceration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007812 UMLS:C4020911 Dendritic corneal epithelial ulcer|Herpetiform corneal ulcers The presence of one or more dendritic corneal epithelial ulcers characterized by a treelike branching linear pattern with feathery edges and terminal bulbs. Herpetiform corneal ulcers can be identified by fluorescein staining. HP:0007811 Horizontal pendular nystagmus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007811 UMLS:C1866180 Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity. HP:0032822 Neonatal electro-clinical autonomic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032822 Neonatal electro-clinical non-motor autonomic seizure is a type of neonatal electro-clinical seizure with predominant features of autonomic alterations, involving cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor, and thermoregulatory functions. May present as apnea. HP:0032829 Neonatal electro-clinical motor seizure with automatism biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032829 Neonatal electroclinical motor seizure with automatism Neonatal electro-clinical motor seizure with automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, and in association with other features. HP:0032828 Neonatal bilateral symmetric tonic seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032828 Neonatal bilateral symmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body symmetrically. HP:0005206 Pancreatic pseudocyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005206 UMLS:C0030299|SNOMEDCT_US:111374002|MSH:D010192 Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis. HP:0007869 obsolete Peripheral retinopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007869 HP:0005207 Gastric hypertrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005207 UMLS:C4280502|UMLS:C1834341 Increased stomach size Hypertrophy of the stomach. HP:0006538 Recurrent bronchopulmonary infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006538 UMLS:C2169795 Recurrent infections in bronchi and lungs An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections. HP:0007868 obsolete Age-related macular degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007868 HP:0005208 Secretory diarrhea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005208 UMLS:C0267557|SNOMEDCT_US:15699003 Secretory diarrhoea Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption. HP:0006539 Bronchial cartilage hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006539 UMLS:C4025024 Underdevelopment of the bronical cartilage HP:0005209 Intrahepatic bile duct cysts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005209 SNOMEDCT_US:235925007|UMLS:C0400991 The presence of cyst of the intrahepatic bile duct. HP:0005202 Helicobacter pylori infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005202 UMLS:C0850666 A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach. HP:0006533 Bronchodysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006533 UMLS:C4025025 HP:0005203 Spontaneous esophageal perforation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005203 MSH:C536571|UMLS:C0238115|SNOMEDCT_US:19995004 Spontaneous esophageal rupture|Boerhaave syndrome The occurrence of the full-thickness tear (perforation) of the wall of the esophagus. HP:0006535 Recurrent intrapulmonary hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006535 UMLS:C3805919 Recurrent intrapulmonary haemorrhage|Recurrent bleeding into lungs|Recurrent pulmonary hemorrhage A recurrent hemorrhage occurring within the lung. HP:0007867 Restrictive partial external ophthalmoplegia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007867 UMLS:C4024781 Fibrosis of only some of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. HP:0007866 Retinal infarction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007866 UMLS:C0281967 HP:0006536 Airway obstruction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006536 UMLS:C0600260|MSH:D008173 Obstructive lung disease|Pulmonary obstruction Obstruction of conducting airways of the lung. HP:0006530 Abnormal pulmonary Interstitial morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006530 SNOMEDCT_US:233703007|MSH:D017563|UMLS:C0206062 Abnormality in area between air sacs in lung|Interstitial lung disease|Abnormal lung parenchyma morphology|Interstitial pulmonary disease Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis. HP:0005200 Retroperitoneal fibrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005200 MSH:D012185|SNOMEDCT_US:49120005|UMLS:C0035357 HP:0006531 Pleural lymphangiectasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006531 UMLS:C1856139 HP:0006532 Recurrent pneumonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006532 UMLS:C0876973|UMLS:C0748140|SNOMEDCT_US:128601007|SNOMEDCT_US:699014000|UMLS:C1859117|UMLS:C0694550 Recurrent pulmonary infections|Pulmonary infection|Recurrent pneumonia|Pulmonary infections|Multiple pulmonary infections|pulmonary infections, recurrent|Pneumonia, recurrent|Pneumonia, recurrent episodes An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. HP:0005201 Anomalous splenoportal venous system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005201 UMLS:C4025236 HP:0007862 Retinal calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007862 UMLS:C1867289 Deposition of calcium salts in the retina. HP:0005217 Duplication of internal organs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005217 UMLS:C4025234 HP:0006548 Pulmonary arteriovenous malformation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006548 Fyler:2210|UMLS:C1857690 Pulmonary AV malformation Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins. HP:0007879 Allergic conjunctivitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007879 SNOMEDCT_US:473460002|UMLS:C0009766|SNOMEDCT_US:231854006|MSH:D003233 Allergic Conjunctivitis is an allergic inflammation of the conjunctiva. HP:0006549 Unilateral primary pulmonary dysgenesis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006549 UMLS:C4021592 Primary pulmonary dysgenesis, unilateral HP:0005218 Anoperineal fistula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005218 UMLS:C1835798 Perianal fistula The presence of a fistula (abnormal tunnel) between the anal canal and the perineum. HP:0005219 Absence of intrinsic factor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005219 UMLS:C4021641 Intrinsic factor absent from gastric juice 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. HP:0007876 obsolete Juvenile cortical cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007876 HP:0006544 Extrapulmonary sequestrum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006544 UMLS:C4020814|UMLS:C4025023 Diaphragmatic sequestrum A type of pulmonary sequestration that is completely enclosed in its own pleural sac, occurring above, within, or below the diaphragm, and without communication with the tracheobronchial tree. HP:0005213 Pancreatic calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005213 UMLS:C1842406 Pancreatic calcifications The presence of abnormal calcium deposition lesions in the pancreas. HP:0007875 Congenital blindness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007875 SNOMEDCT_US:95486002|UMLS:C0005754 Blindness present at birth|Congenital amaurosis Blindness with onset at birth. HP:0005214 Intestinal obstruction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005214 SNOMEDCT_US:81060008|MSH:D007415|UMLS:C0021843 Bowel obstruction|Intestinal obstruction|Intestinal blockage Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal. HP:0005215 Frequent Giardia lamblia infestation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005215 UMLS:C4025235 Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection. HP:0005216 Impaired mastication biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005216 UMLS:C0239043|SNOMEDCT_US:162020001 Difficulty chewing|Chewing difficulties|Chewing difficulty An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing. HP:0007872 Choroidal hemangioma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007872 SNOMEDCT_US:255022003|UMLS:C0346390|NCIT:C3086 The presence of multiple hemangiomas in the choroid. These are generally reddish or orange or can have increased pigmentation maiking them difficult to distinguish from choroidal melanomas. HP:0006541 obsolete Chronic obstructive airway disease from birth biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006541 HP:0005210 Hypoplastic colon biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005210 UMLS:C1392839 Hypoplasia of the colon|Underdeveloped colon Underdevelopment of the colon. HP:0007874 Almond-shaped palpebral fissure biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0007874 UMLS:C4024780 Almond shaped eyes|Almond-shaped opening between the eyelids A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point. HP:0005211 Midgut malrotation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005211 UMLS:C1849706 HP:0007873 Abnormally prominent line of Schwalbe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007873 UMLS:C1862376 Prominent Schwalbe lines HP:0005212 Anal mucosal leukoplakia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005212 UMLS:C1844632 Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation. HP:0006543 Cardiorespiratory arrest biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006543 UMLS:C0600228|MSH:D006323|SNOMEDCT_US:410430005 HP:0006519 Alveolar cell carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006519 SNOMEDCT_US:112677002|UMLS:C0007120|SNOMEDCT_US:36310008|SNOMEDCT_US:373627005|MSH:D002282 Adenocarcinoma of the Bronchus. HP:0006515 Interstitial pneumonitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006515 UMLS:C0206061|SNOMEDCT_US:64667001|MSH:D017563 HP:0006516 Hypersensitivity pneumonitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006516 MSH:D000542|SNOMEDCT_US:37471005|UMLS:C0002390 Hypersensitivity pneumonitis involves inhalation of an antigen. This leads to an exaggerated immune response and a following inflammation of the alveoli within the lungs. The main feature of chronic hypersensitivity pneumonitis on lung biopsies is expansion of the interstitium by lymphocytes accompanied by an occasional multinucleated giant cell or loose granuloma. After exposure to the provoking antigen, following symptoms can be seen: fever, chills, malaise, cough, hemoptysis, chest tightness, dyspnea, rash, swelling and headache and can be completely reversible, based on the duration of the illness, categorized as acute (HP:0011009), subacute (HP:0011011), and chronic (HP:0011010). HP:0006517 Intraalveolar phospholipid accumulation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006517 MSH:D011649|SNOMEDCT_US:10501004|UMLS:C0034050 Alveolar proteinosis|Pulmonary alveolar proteinosis|Detection of PAS-positive extracellular material in broncho-alveolar lavage Accumulation of amorphous PAS-positive material in the space betweem alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis. HP:0006518 Pulmonary venous occlusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006518 UMLS:C4280802|MSH:D011668|Fyler:3002|UMLS:C0034091|SNOMEDCT_US:89420002 Pulmonary venous stenosis|Pulmonary venous occlusion|Pulmonary venoocclusive disease Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition. HP:0007843 Attenuation of retinal blood vessels biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007843 UMLS:C3278975 Narrowing of blood vessels in back of eye HP:0006511 Laryngeal stridor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006511 MSH:D007826|SNOMEDCT_US:53787002|SNOMEDCT_US:41432000|UMLS:C0023066|SNOMEDCT_US:406444002 Laryngeal stidor An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat. HP:0006514 Intraalveolar nodular calcifications biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006514 UMLS:C4025028 HP:0007841 Amyloid deposition in the vitreous humor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007841 UMLS:C4024784 Vitreous amyloid deposits|Amyloid deposition in the vitreous humour Deposition of hyaline extracellular material (amyloid) into the vitreous humor, which can manifest as vitreous opacities and reduced visual acuity. HP:0006510 Chronic pulmonary obstruction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006510 UMLS:C0024117|MSH:D029424|SNOMEDCT_US:13645005 COPD|Chronic obstructive pulmonary disease An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities. HP:0007840 Long upper eyelashes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007840 UMLS:C4024785 Ciliary trichomegaly of upper eyelashes|Increased length of upper eyelashes|Long upper eyelashes Increased length of the upper eyelashes. HP:0007858 Chorioretinal lacunae biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0007858 UMLS:C4072866|UMLS:C1844751 Lacunar retinal depigmentation Punched out lesions in the pigmented layer of the retina. HP:0006527 Lymphocytic interstitial pneumonia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006527 SNOMEDCT_US:44274007|UMLS:C0264511|MSH:C562489 Lymphocytic interstitial pneumonitis|Lymphoid interstitial pneumonitis|Lymphoid interstitial pneumonia Lymphocytic interstitial pneumonitis is a benign lymphoproliferative disorder of the lung that is characterized by the presence of a dense, predominantly lymphocytic interstitial infiltrate (lymphocytes, plasma cells, other elements of the lymphoreticular system) that expands the alveolar septa. HP:0006528 Chronic lung disease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006528 UMLS:C0746102|SNOMEDCT_US:413839001 Chronic lung disease According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities. HP:0007859 Congenital horizontal nystagmus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007859 UMLS:C1866180 Nystagmus, congenital horizontal Horizontal nystagmus dating from or present at birth. HP:0006529 Abnormal pulmonary lymphatics biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006529 UMLS:C4025026 An abnormality of the pulmonary lymphatic chain. HP:0007854 Glaucomatous visual field defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007854 UMLS:C1299694|SNOMEDCT_US:370961005 HP:0006522 Repeated pneumothoraces biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006522 UMLS:C4025027 Repeated pneumothorax HP:0007856 Punctate opacification of the cornea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007856 UMLS:C4021565 Punctate corneal opacities Punctate opacification (reduced transparency) of the corneal stroma. HP:0006524 Tracheobronchial leiomyomatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006524 UMLS:C3806786 HP:0006525 obsolete Lung segmentation defects biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006525 HP:0007850 Retinal vascular proliferation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007850 SNOMEDCT_US:61267008|UMLS:C0035320|MSH:D015861 HP:0007852 obsolete Pericentral pigmentary retinopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007852 HP:0006520 Progressive pulmonary function impairment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006520 UMLS:C1849570 HP:0006521 Pulmonary lymphangiectasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006521 UMLS:C1855480 Pulmonary lymphangiectasis Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid. HP:0007851 obsolete Temporal displacement of maculae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007851 HP:0041060 Chronic partially decreased circulating IgG4 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041060 Chronic partially decreased IgG4 in blood A lasting limited decrease of immunoglobulin G4 (IgG4) in the blood. HP:0041061 Fractured calcaneus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041061 bone calcaneus A partial or complete breakage of the calcaneus. HP:0041064 Fractured knee biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041064 bone knee A partial or complete breakage of the knee. HP:0041065 Chronic (near) absent circulating IgG2 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041065 Chronic (near) absent IgG2 in blood A lasting absence of immunoglobulin G2 (IgG2) in the blood, whereby at most trace quantities of IgG2 can be measured. HP:0041062 Transient decreased circulating IgG2 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041062 Transient decreased IgG2 in blood A temporary reduction beneath the normal level of total immunoglobulin G2 (IgG2) in the blood circulation. HP:0041063 Chronic decreased cirulating IgG2 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041063 Chronic decreased IgG2 in blood A lasting decrease of immunoglobulin G2 (IgG2) in the blood. HP:0041068 Chronic decreased circulating IgG1 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041068 Chronic decreased IgG1 in blood A lasting decrease of immunoglobulin G1 (IgG1) in the blood. HP:0041069 Chronic (near) absent circulating IgG1 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041069 Chronic (near) absent IgG1 in blood A lasting absence of immunoglobulin G1 (IgG1) in the blood, whereby at most trace quantities of IgG1 can be measured. HP:0041066 Chronic partially decreased circulating IgG2 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041066 Chronic partially decreased IgG2 in blood A lasting limited decrease of immunoglobulin G2 (IgG2) in the blood. HP:0041067 Transient decreased circulating IgG1 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041067 Transient decreased IgG1 in blood A temporary reduction beneath the normal level of total immunoglobulin G1 (IgG1) in the blood circulation. HP:3000001 obsolete Abnormal heart morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000001 HP:3000002 Abnormal inner ear epithelium morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000002 UMLS:C4073211 Any structural anomaly of an inner ear epithelium. HP:3000003 Abnormal mandibular ramus morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000003 UMLS:C4073212 Abnormality of mandibular ramus An abnormality of a mandibular ramus. HP:0041071 Transient decreased circulating IgG3 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041071 Transient decreased IgG3 in blood A temporary reduction beneath the normal level of total immunoglobulin G3 (IgG3) in the blood circulation. HP:0041072 Chronic decreased circulating IgG3 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041072 Chronic decreased IgG3 in blood A lasting decrease of immunoglobulin G3 (IgG3) in the blood. HP:0041070 Chronic partially decreased circulating IgG1 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041070 Chronic partially decreased IgG1 in blood A lasting limited decrease of immunoglobulin G1 (IgG1) in the blood. HP:0041075 Chronic partially decreased circulating IgG3 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041075 Chronic partially decreased IgG3 in blood A lasting limited decrease of immunoglobulin G3 (IgG3) in the blood. HP:3000008 Abnormality of mylohyoid muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000008 UMLS:C4073217 An abnormality of a mylohyoid muscle. HP:3000009 Abnormality of nasalis muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000009 UMLS:C4073218 An abnormality of a nasalis muscle. HP:0041076 Abnormal immunoglobulin level in body fluid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041076 An abnormal deviation from normal levels of immunoglobulins in body fluids, such as mucous. HP:0041073 Fractured thoracic vertebra biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041073 bone thoracic vertebra A partial or complete breakage of the thoracic vertebra. HP:0041074 Chronic (near) absent circulating IgG3 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041074 Chronic (near) absent IgG3 in blood A lasting absence of immunoglobulin G3 (IgG3) in the blood, whereby at most trace quantities of IgG3 can be measured. HP:3000004 Abnormality of frontalis muscle belly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000004 UMLS:C4073213 An abnormality of a frontalis muscle belly. HP:0041079 Decreased body fat percentage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041079 Decreased adipose tissue percentage The percentage of fat as a part of total body weight below the norm, usually defined as less than 14% for females and less than 8% for males. HP:3000005 Abnormality of masseter muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000005 UMLS:C4073214 An abnormality of a masseter muscle. HP:0041077 Increased immunoglobulin level in body fluid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041077 An elevation from normal levels of immunoglobulins in body fluids, such as mucous. HP:3000006 Abnormality of medial pterygoid muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000006 UMLS:C4073215 An abnormality of a medial pterygoid muscle. HP:0041078 Decreased immunoglobulin level in body fluid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041078 An reduction from normal levels of immunoglobulins in body fluids, such as mucous. HP:3000007 Abnormality of mentalis muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000007 UMLS:C4073216 An abnormality of a mentalis muscle. HP:3000011 Abnormality of palatoglossus muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000011 UMLS:C4073220 An abnormality of a palatoglossus muscle. HP:3000012 Abnormality of palatopharyngeus muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000012 UMLS:C4073221 An abnormality of a palatopharyngeus muscle. HP:3000013 Abnormality of platysma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000013 UMLS:C4073222 Abnormality of the platysma muscle An abnormality of the platysma muscle. HP:3000014 Abnormality of procerus muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000014 UMLS:C4073223 An abnormality of a procerus. HP:3000010 Abnormality of orbicularis oris muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000010 UMLS:C4073219 An abnormality of an orbicularis oris muscle. HP:0041082 Fractured skull biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041082 bone skull A partial or complete breakage of the skull. HP:0041083 Fractured phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041083 bone phalanx A partial or complete breakage of the phalanx. HP:0041080 Abnormal proportion of exhausted T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041080 A deviation from the normal proportion of exhausted T cell relative to T cell in the blood. HP:0041081 Fractured lower leg biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041081 Lower limb fracture|Fracture of the lower leg|Lower extremity fracture Bone fracture anywhere in the tibia, fibula, or ankle. HP:0041086 Compression-fractured cervical vertebra biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041086 Wedge fractured cervical vertebra|Compression fractured cervical vertebra A fracture of the cervical vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging. HP:0004097 Deviation of finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004097 SNOMEDCT_US:203556007|UMLS:C0410740|SNOMEDCT_US:26517000 Finger pointing in a different direction than usual|Deviated fingers|Atypical position 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. HP:3000019 Abnormality of buccal mucosa biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000019 UMLS:C4073228 Abnormality of cheek mucosa|Abnormality of inside lining of cheek An abnormality of a buccal mucosa. HP:0041087 Compression-fractured lumbar vertebra biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041087 Wedge fractured lumbar vertebra|Compression fractured lumbar vertebra A fracture of the lumbar vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging. HP:0004095 Curved fingers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004095 UMLS:C4025413 Curved fingers HP:0041084 Compression-fractured thoracic vertebra biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041084 Wedge fractured thoracic vertebra|Compression fractured thoracic vertebra A fracture of the thoracic vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging. HP:0041085 Compression-fractured vertebra biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041085 Wedge fractured vertebra|Compression fractured vertebra A fracture of the vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging. HP:3000015 Abnormality of risorius muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000015 UMLS:C4073224 An abnormality of a risorius muscle. HP:3000016 Abnormality of styloglossus muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000016 UMLS:C4073225 An abnormality of the styloglossus muscle. HP:3000017 Abnormality of temporalis muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000017 UMLS:C4073226 An abnormality of a temporalis muscle. HP:0004099 Macrodactyly biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0004099 MEDDRA:10025386|UMLS:C0265552|MSH:C562546|SNOMEDCT_US:48449000 Finger overgrowth|Megalodactyly 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. HP:0041088 Avulsion fractured humerus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041088 A fractured in which a fragment of the humerus tears away from the main mass of bone as a result of physical trauma. HP:3000018 Abnormality of zygomaticus major muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000018 UMLS:C4073227 An abnormality of a zygomaticus major muscle. HP:0041089 Avulsion fractured tibia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041089 A fractured in which a fragment of the tibia tears away from the main mass of bone as a result of physical trauma. HP:3000022 Abnormality of cartilage of external ear biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000022 UMLS:C4073231 An abnormality of a cartilage of external ear. HP:3000023 Abnormality of angular artery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000023 UMLS:C4073232 An abnormality of the angular artery, the terminal branch of the facial artery. HP:3000024 Abnormal facial artery morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000024 UMLS:C4073233 Abnormality of facial artery Any structural abnormality of a facial artery, one of the branches of the external carotid artery. HP:3000025 Abnormality of ciliary ganglion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000025 UMLS:C4073234 An abnormality of a ciliary ganglion. HP:3000020 Abnormality of zygomaticus minor muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000020 UMLS:C4073229 An abnormality of a zygomaticus minor muscle. HP:3000021 Abnormality of buccal fat pad biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000021 UMLS:C4073230 An abnormality of a buccal fat pad. HP:0041090 obsolete Avulsion fractured pelvic region of trunk biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041090 HP:0041091 Avulsion fractured epiphysis of femur biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041091 A fractured in which the fragment of the epiphysis of femur bone tears away from the main mass of bone as a result of physical trauma. HP:0041092 Emotional hypersensitivity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041092 Highly sensitive|Hypersensitivity|Overly sensitive Heightened emotional reactivity to environmental stimuli, including emotions of others. HP:3000026 obsolete Abnormality of common carotid artery plus branches biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000026 HP:3000027 Abnormality of buccinator muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000027 UMLS:C4073236 An abnormality of a buccinator muscle. HP:3000028 Abnormality of depressor anguli oris muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000028 UMLS:C4073237 An abnormality of a depressor anguli oris muscle. HP:3000029 Abnormality of depressor labii inferioris biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000029 UMLS:C4073238 Abnormality of depressor labii inferioris muscle An abnormality of a depressor labii inferioris. HP:3000033 Abnormal nasopharyngeal adenoid morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000033 UMLS:C4073241 Abnormality of pharyngeal tonsil|Abnormality of adenoids|Abnormality of nasopharyngeal adenoids|Abnormality of nasopharyngeal tonsil Any abnormality of nasopharyngeal adenoids. HP:3000034 Abnormality nasal septum cartilage morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000034 UMLS:C4073242 Malformation of cartilage of nasal septum|Deformity of cartilage of nasal septum|Anomaly of cartilage of nasal septum|Abnormality of cartilage of nasal septum|Abnormality of cartilage of septum of nose An abnormality of a cartilage of nasal septum. HP:3000035 Abnormality of cervical plexus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000035 UMLS:C4073243 Abnormality of the plexus of the ventral rami of the first four cervical spinal nerves which are located from C1 to C4 cervical segment in the neck. HP:3000036 Abnormality of head blood vessel biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000036 UMLS:C4073244 Abnormality of head blood vessel|Abnormality of blood vessel of head|Abnormality of vasculature of head An abnormality of a blood vessel of the head, including branches of the arterial and venous systems of the head. HP:3000030 Abnormality of bony orbit of skull biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000030 UMLS:C4073239 Abnormality of bones of the orbit of the skull|Abnormality of the orbital bones of skull|Abnormality of the bony eye socket An abnormality of an orbit of skull. HP:3000031 Abnormality of anterior ethmoidal artery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000031 UMLS:C4073287 An abnormality of an anterior ethmoidal artery. HP:3000032 Abnormality of central retinal artery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000032 UMLS:C4073240 An abnormality of a central retinal artery. HP:0030374 Decreased proportion of memory B cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030374 UMLS:C4072913 A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV). HP:0030375 Increased proportion of memory B cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030375 UMLS:C4072914 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). HP:0030376 Abnormal proportion of immature B cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030376 UMLS:C4072915 Abnormal proportion of CD19+/CD21low B cells A deviation from normal proportion of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+). HP:0030377 Increased proportion of immature B cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030377 UMLS:C4072916 Increased proportion of CD19+/CD21low B cells An elevation in the proportion above normal of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+). HP:0030370 Abnormal proportion of naive B cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030370 UMLS:C4072909 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. HP:0030371 Increased proportion of naive B cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030371 UMLS:C4072910 An elevation above the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen. HP:0030372 Decreased proportion of naive B cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030372 UMLS:C4072911 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. HP:0030373 Abnormal proportion of memory B cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030373 UMLS:C4072912 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). HP:0030378 Decreased proportion of immature B cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030378 UMLS:C4072917 Decreased proportion of CD19+/CD21low B cells A reduction in normal proportion of immature B cells (CD19+/ CD21low)in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+). HP:0030379 Abnormal proportion of transitional B cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030379 UMLS:C4072918 Abnormal proportion of CD19+CD38+IgM+ cells A deviation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells. HP:3000037 Abnormality of neck blood vessel biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000037 UMLS:C4073245 Abnormality of the cervical blood vessels|Abnormality of the cervical vasculature|Abnormality of neck blood vessel|Abnormality of the vasculature of the neck|Abnormality of blood vessel of neck An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck. HP:3000038 Abnormal cricoid cartilage morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000038 UMLS:C4073246 Abnormality of cricoid cartilage Any structural abnormality of a cricoid cartilage, that is, of the ring-shaped cartilage of the larynx. HP:3000039 Abnormality of dorsal nasal artery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000039 UMLS:C4073247 An abnormality of a dorsal nasal artery. HP:3000044 Abnormality of frontal process of maxilla biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000044 UMLS:C4073252 An abnormality of a frontal process of the maxilla bone. HP:3000045 Abnormality of genioglossus muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000045 UMLS:C4073253 An abnormality of a genioglossus muscle. HP:3000046 Abnormality of geniohyoid muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000046 UMLS:C4073254 An abnormality of a geniohyoid muscle. HP:0030380 Decreased proportion of transitional B cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030380 UMLS:C4072919 Decreased proportion of CD19+CD38+IgM+ cells A reduction in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells. HP:3000047 Abnormal glossopharyngeal nerve morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000047 UMLS:C4073255 Abnormality of glossopharyngeal nerve Any structural anomaly of the glossopharyngeal nerve, the ninth paired cranial nerve (CN IX). HP:3000040 Abnormality of ethmoid sinus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000040 UMLS:C4073248 Abnormality of ethmoidal air cells An abnormality of an ethmoid sinus. HP:3000041 Abnormality of external carotid artery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000041 UMLS:C4073249 Disorder of carotid artery|Abnormality of carotid artery An abnormality of an external carotid artery. HP:3000042 Abnormal jugular vein morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000042 UMLS:C4073250 Abnormality of jugular vein Any structural abnormality of a jugular vein. HP:3000043 Abnormal facial vein morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000043 UMLS:C4073251 Abnormality of facial vein|Abnormal vein of face An abnormality of a facial vein. HP:0030385 Increased proportion of marginal zone B cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030385 UMLS:C4072923 An elevation in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells. HP:0030386 Abnormal proportion of class-switched memory B cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030386 UMLS:C4072924 Abnormal proportion of CD19+CD27+IgD- cells A deviation of the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM-/IgD-) in circulation relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. HP:0030387 Increased proportion of class-switched memory B cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030387 UMLS:C4073288 Increased proportion of CD19+CD27+IgD- cells An increase in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. HP:0030388 Decreased proportion of class-switched memory B cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030388 UMLS:C4072925 Decreased proportion of CD19+CD27+IgD- cells A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. HP:0030381 Increased proportion of transitional B cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030381 UMLS:C4072920 Increased proportion of CD19+CD38+IgM+ cells An elevation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells. HP:0030383 Abnormal proportion of marginal zone B cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030383 UMLS:C4072921 A deviation of the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells. HP:0030384 Decreased proportion of marginal zone B cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030384 UMLS:C4072922 A reduction in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells. HP:0030389 Abnormal circulating thromboxane concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030389 UMLS:C4072926 Any deivation from the normal concentration in the blood circulation of a thromboxane. Thromboxanes are derived from prostaglandin precursors in platelets, and stimulate aggregation of platelets and constriction of blood vessels. HP:3000048 Abnormal great auricular nerve morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000048 UMLS:C4073256 Any structural anomaly of a great auricular nerve. HP:3000049 Abnormal greater palatine artery morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000049 UMLS:C4073257 Abnormality of greater palatine artery An abnormality of a greater palatine artery. HP:3000055 Abnormality of inferior alveolar nerve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000055 UMLS:C4073263 An abnormality of an inferior alveolar nerve. HP:3000056 Abnormality of artery of lower lip biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000056 UMLS:C4073264 Abnormality of the inferior labial artery An abnormality of an artery of lower lip. HP:3000057 Abnormality of inferior oblique extraocular muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000057 UMLS:C4073265 Abnormality of the inferior oblique muscle An abnormality of an inferior oblique extraocular muscle. HP:0030390 Reduced circulating leukotriene C4 concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030390 UMLS:C4072927 An abnormally decreased concentration of leukotriene C4 in the blood circulation. HP:0041048 Decreased expression of GPI-anchored proteins on the cell surface biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041048 A decrease in the protein expression fo GPI-anchor proteins, such as CD55 and CD59, at the cell surface, which suggests a defect in GPI-anchor biosynthesis. HP:3000058 Abnormality of inferior rectus extraocular muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000058 UMLS:C4073266 An abnormality of an inferior rectus extraocular muscle. HP:0041049 Starch intolerance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041049 Starch intolerance|Amylose-amylopectin intolerance An inability to digest starch. HP:0030391 Spoken Word Recognition Deficit biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030391 UMLS:C4072928 Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus. HP:3000051 Abnormal hyoglossus muscle morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000051 UMLS:C4073259 Abnormality of hyoglossus muscle An abnormality of a hyoglossus muscle. HP:3000052 Abnormality of hyoid bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000052 UMLS:C4073260 An abnormality of a hyoid bone. HP:3000053 Abnormal hypopharynx morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000053 UMLS:C4073261 Abnormality of hypopharynx|Abnormality of lower pharynx A structural anomaly of the hypopharyx, which is the most inferior portion of the pharynx. The hypopharynx continues from the oropharynx at the pharyngoepiglottic fold superiorly and extends inferiorly to the level of the inferior aspect of the cricoid cartilage, which marks the beginning of the cervical esophagus. HP:3000054 Abnormality of inferior alveolar artery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000054 UMLS:C4073262 An abnormality of an inferior alveolar artery. HP:0030396 Abnormal platelet granule secretion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030396 UMLS:C4072929 Platelets are replete with secretory granules, which are critical to normal platelet function. Among the three types of platelet secretory granules - alpha-granules, dense granules, and lysosomes - the alpha-granule is the most abundant. Granule contents must be released from their intracellular repository in order to achieve their physiologic function, and this term refers to a functional defect in granule secretion. HP:0030397 Abnormal platelet dense granule secretion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030397 UMLS:C4072930 Abnormal release of dense granules from platelets. HP:0030398 Abnormal platelet ATP dense granule secretion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030398 UMLS:C4072931 Abnormal secretion of the platelet dense-granule content adenosine triphosphate (ATP). HP:3000050 Abnormality of odontoid tissue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000050 UMLS:C4073258 Abnormality of hard tissues of teeth|Abnormality of tooth hard tissue An abnormality of an odontoid tissue. HP:0030399 Abnormal platelet alpha granule secretion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030399 UMLS:C4072932 Abnormal release of alpha granule contents from platelets. HP:0030392 Choroid plexus carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030392 MSH:C562943|SNOMEDCT_US:88252006|UMLS:C0431109 Intraventricular papillary neoplasm derived from choroid plexus epithelium. Plexus tumors are most common in the lateral and fourth ventricles; while 80% of lateral ventricle tumors present in children, fourth ventricle tumors are evenly distributed in all age groups. Clinically, choroid plexus tumors tend to cause hydrocephalus and increased intracranial pressure. Histologically, choroid plexus papillomas correspond to WHO grade I, choroid plexus carcinomas to WHO grade III. HP:0030393 Endolymphatic sac tumor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030393 UMLS:C2348239|SNOMEDCT_US:699817008 Heffner tumor|Aggressive papillary middle ear tumor|Low-grade adenocarcinoma of endolymphatic sac origin|Endolymphatic sac tumour A low-grade papillary epithelial neoplasm (adenocarcinoma) with a slow growth pattern. The endolymphatic duct emerges from the posterior wall of the saccule (of the inner ear) and ends in a blind pouch, the endolymphatic sac. Endolymphatic sac tumors (ELSTs) are known under different names in the literature (Heffner tumor, aggressive papillary middle ear tumor, and low-grade adenocarcinoma of endolymphatic sac origin). HP:0030394 Fallopian tube carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030394 SNOMEDCT_US:276870001|UMLS:C0238122|MSH:D005185 Carcinoma that originates in the Fallopian tube. It may be located in the wall or within the lumen as a growth attached to the wall by a stalk. HP:0041042 Absent neutrophil lactoferrin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041042 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. HP:0041043 Neutrophil nuclear clefts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041043 An abnormality of the nucleus of neutrophils, which presents as either a type I nuclear cleft, where the nuclear cleft may show a transition into a round/oval shape. The second type nuclear cleft, which runs perpendicular to the nuclear surface, and this type of cleft might be related to nuclear lobe formation. HP:0041046 Increased neutrophil ribosomes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041046 An increased number of ribosomes detected in neutrophils. HP:3000059 Abnormal inferior thyroid vein morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000059 UMLS:C4073267 Abnormality of inferior thyroid vein An abnormality of an inferior thyroid vein. HP:0041047 Bladder outlet obstruction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041047 Obstruction of bladder outlet A compression or resistance upon the bladder outflow channel at any location from the bladder neck to urethral meatus, which usually causes lower urinary tract symptoms (LUTS). HP:0041044 Low neutrophil alkaline phosphatase biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041044 An abnormally reduced level of alkaline phosphatase in neutrophils, which could be due to absence of enzyme or the production of defective enzyme. HP:0041045 Increased neutrophil mitochondria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041045 An increased number of mitochondria detected in neutrophils. HP:3000066 Abnormal lacrimal sac morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000066 UMLS:C4073273 Abnormality of lacrimal sac An abnormality of a lacrimal sac. HP:3000067 Abnormal lateral cricoarytenoid muscle morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000067 UMLS:C4073274 Abnormal anterior cricoarytenoid muscle morphology|Abnormality of lateral crico-arytenoid|Abnormality of lateral cricoarytenoid muscle Any structural abnormality of a lateral crico-arytenoid muscle, which extends from the lateral cricoid cartilage to the muscular process of the arytenoid cartilage, and can adduct the vocal cords, which closes the rima glottidis and thereby protects the airway. HP:3000068 Abnormality of lateral pterygoid muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000068 UMLS:C4073275 An abnormality of a lateral pterygoid muscle. HP:0041059 Chronic (near) absent circulating IgG4 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041059 Chronic (near) absent IgG4 in blood A lasting absence of immunoglobulin G4 (IgG4) in the blood, whereby at most trace quantities of IgG4 can be measured. HP:3000069 Abnormality of lateral rectus extra-ocular muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000069 UMLS:C4073276 An abnormality of a lateral rectus extra-ocular muscle. HP:3000062 Abnormal internal carotid artery morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000062 UMLS:C1860488 Abnormality of internal carotid artery An abnormality of an internal carotid artery. HP:3000063 Abnormality of internal jugular vein biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000063 UMLS:C4073270 An abnormality of an internal jugular vein. HP:3000064 Abnormality of intrinsic muscle of tongue biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000064 UMLS:C4073271 Abnormality of intrinsic lingual muscle An abnormality of an intrinsic muscle of tongue. HP:3000065 Abnormal lacrimal artery morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000065 UMLS:C4073272 Abnormality of lacrimal artery An abnormality of a lacrimal artery. HP:3000060 Abnormality of infraorbital artery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000060 UMLS:C4073268 An abnormality of an infraorbital artery. HP:3000061 Abnormality of infra-orbital nerve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000061 UMLS:C4073269 Abnormality of the infraorbital nerve A structural abnormality of an infra-orbital nerve. The infraorbital nerve arises from the maxillary branch of the trigeminal nerve and normally traverses the orbital floor in the infraorbital canal. HP:0041050 Renal tubular cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041050 Renal tubule cyst Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells. HP:0041053 Fractured head biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041053 bone head A partial or complete breakage of the head. HP:0041054 obsolete Fractured thoracic segment of trunk biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041054 HP:0041051 Ageusia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041051 Absent sense of taste|Impaired taste sensation|Lost taste A rare condition that is characterized by a complete loss of taste function of the tongue. HP:0041052 Agenesis of putamen biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041052 A developmental defect characterized by the absence of the putamen owing to its failure to develop. HP:0041057 Transient decreased circulating IgG4 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041057 Transient decreased IgG4 in blood A temporary reduction beneath the normal level of total immunoglobulin G4 (IgG4) in the blood circulation. HP:0041058 Chronic decreased circulating IgG4 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041058 Chronic decreased IgG4 in blood A lasting decrease of immunoglobulin G4 (IgG4) in the blood. HP:0041055 Fractured humerus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041055 Humeral fracture|Fracture of the humerus|Broken humerus|bone humerus|Humerus fracture A partial or complete breakage of the humerus. HP:0041056 Hot cross bun sign biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0041056 A cruciform-shaped hyperintensity within the pons found on T2-weighted magnetic resonance imaging (MRI). HP:3000077 Abnormal mandible condylar process morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000077 UMLS:C4073284 Abnormality of mandible condylar process An abnormality of a mandible condylar process. HP:3000078 Abnormal mandible coronoid process morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000078 UMLS:C4073285 Abnormality of mandible coronoid process An abnormality of a mandible coronoid process. HP:3000079 Abnormal mandibular symphysis morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000079 UMLS:C4073286 Abnormality of mandible symphysis A structural abnormality of a mandibular symphysis. HP:3000073 Abnormality of levator veli palatini muscle biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000073 UMLS:C4073280 An abnormality of a levator veli palatini. HP:3000074 Abnormal lingual artery morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000074 UMLS:C4073281 Abnormality of lingual artery Any structural abnormality of a lingual artery. HP:3000075 Abnormal lingual nerve morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000075 UMLS:C4073282 Abnormality of lingual nerve Any structural anomaly of a lingual nerve. HP:3000076 Abnormality of lingual tonsil biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000076 UMLS:C4073283 An abnormality of a lingual tonsil. HP:0031661 Abnormal second heart sound biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031661 Any anomaly of the second heart sound (S2), which is produced by aortic (A2) and pulmonic (P2) valve closure. The A2-P2 interval normally increases with inspiration and narrows with expiration. HP:0032993 Abnormal pulmonary fissure count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032993 A deviation from the normal number of pulmonary fissures. HP:0030330 Multinucleated giant chondrocytes in epiphyseal cartilage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030330 UMLS:C4022506 The presence of cartilage cells (chondrocytes) that are substantially increased in size and contain more than one nucleus and are located within the resting zone of the epiphyseal cartilage. HP:3000070 Abnormality of levator anguli oris biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000070 UMLS:C4073277 An abnormality of a levator anguli oris. HP:0031662 Fixed splitting of the second heart sound biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031662 Fixed splitting of S2 Lack of variation in the splitting between the two components of the second heart sound with respiration. Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration. HP:0030331 Impaired stimulus-induced skin wrinkling biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030331 UMLS:C4022505 A reduced ability of the skin of the fingertips to wrinkle when exposed to stimuli such as soaking in water or application of EMLA cream (the fingertip remains smooth). HP:0032992 Abnormal pulmonary fissure architecture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032992 An abnormal form or location of a pulmonary fissure. HP:0031663 Paradoxical splitting of the second heart sound biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031663 Reversed splitting of the second heart sound|Paradoxical splitting of S2|Reversed splitting of S2 Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration. With paradoxical splitting, there is a delay in the closure of the aortic valve, so that A2 can follow P2; the individual components can be appreciated at the end of expiration and the interval narrows with inspiration (which is the oposite of the normal pattern). HP:3000071 Abnormality of levator labii superioris biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000071 UMLS:C4073278 An abnormality of a levator labii superioris. HP:0030332 obsolete Abnormal T cell morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030332 HP:0032995 Decreased pulmonary fissure count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032995 Reduced pulmonary fissure count Lack of one or more of the normal pulmonary fissures. HP:3000072 Abnormal levator palpebrae superioris morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_3000072 UMLS:C4073279 An abnormality of a levator palpebrae superioris. HP:0032994 Supernumerary pulmonary fissure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032994 increased pulmonary fissure count Presence of a lung fissure that does not exist normally. Supernumerary fissures include the superior accessory fissure, the medial basal fissure, the left horizontal fissure, and the azygos fissure form supernumerary lobes. HP:0030333 Abnormal alpha-beta T cell morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030333 UMLS:C4022503 A structuraly anomaly of T cells that express an alpha-beta T cell receptor. HP:0031664 Systolic heart murmur biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031664 A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2. HP:0032991 Abnormal pulmonary fissure morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032991 An abnormal form or number of the pulmonary fissures. HP:0032990 Localized pulmonary hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032990 Localised pulmonary haemorrhage 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. HP:0031660 Loud first heart sound biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031660 Abnormally increased volume of the first heart sound. HP:0031669 Middiastolic murmur biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031669 A murmur that occurs in the middle of the diastolic phase. HP:0030338 Abnormal circulating gonadotropin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030338 UMLS:C4072886 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). HP:0004039 Abnormality of ulnar metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004039 UMLS:C4025424 HP:0030339 Decreased circulating gonadotropin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030339 UMLS:C4072887 A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH). HP:0004038 obsolete Bony spicule of ulnar epiphyseal plate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004038 HP:0004037 Abnormality of the ulnar epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004037 UMLS:C4021689 Abnormality of the epiphyseal plate of the ulna HP:0004036 Long styloid process of ulna biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004036 UMLS:C4025426 HP:0006698 Dilatation of the ventricular cavity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006698 UMLS:C0392464|SNOMEDCT_US:90539001 Ventricular aneurysm A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole. HP:0030334 Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030334 UMLS:C4022502 A structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell. These cells are regulatory T cells. HP:0031665 Midsystolic murmur biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031665 A systolic murmur that begins after S1 and ends before S2, typically with a crescendo-decrescendo pattern. HP:0032997 Decreased cystatin C level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032997 A decreased concentration of cystatin C in the blood circulation. HP:0005368 Abnormality of humoral immunity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005368 UMLS:C3150510 Defective humoral immunity An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system. HP:0006699 Premature atrial contractions biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006699 SNOMEDCT_US:287057009|SNOMEDCT_US:63593006|MSH:D018880|SNOMEDCT_US:406461004|UMLS:C0033036|SNOMEDCT_US:284470004 Premature supraventricular beats|Atrial premature complex|Atrial ectopic beats|PACs|Ectopic supraventricular rhythms A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites. HP:0032996 Abnormal cystatin C level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032996 Any deviation from the normal concentration of cystatin C in serum or plasma. HP:0030335 Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030335 UMLS:C4021859 A deviation from the normal count of CD4-positive, CD25-positive, alpha-beta regulatory T cells. HP:0031666 Late systolic murmur biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031666 A murmur that occurs in the latter phase of systole. HP:0032999 Increased fecal porphyrin biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032999 Increased faecal porphyrin Abnormally high concentration of fecal porphyrins in feces. HP:0031667 Holosystolic murmur biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031667 A heart murmur that occurs during the entire systolic phase from S1 to S2. HP:0005369 Decreased serum complement factor H biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005369 UMLS:C1969222 A reduced level of the complement component Factor H in circulation. HP:0030336 Absence of CD4-positive, CD25-positive regulatory T cells biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030336 UMLS:C4021039 Absence of CD4+CD25+ T regulatory cells|Absence of CD4+CD25+ Tregs Lack of CD4+CD25+ T regulatory cells. HP:0031668 Diastolic heart murmur biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031668 A heart murmur that occurs during diastole, i.e., in the time between S2 and the subsequent S1. HP:0030337 Elevated CD4-positive, CD25-positive regulatory T cell count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030337 UMLS:C4022501 An increased number of CD4-positive, CD25-positive regulatory T cells. HP:0032998 Increased cystatin C level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032998 A elevated concentration of cystatin C in the blood circulation. HP:0005363 Humoral immunodeficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005363 UMLS:C4025206 A general term referring to a defect in immunity resulting from impaired antibody production. HP:0006694 Early progressive calcific cardiac valvular disease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006694 UMLS:C4024999 HP:0004031 Broad radial diaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004031 UMLS:C4021690 Wide radial diaphysis Increase in width of the diaphysis of radius. HP:0006695 Atrioventricular canal defect biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006695 MSH:D004694|Fyler:606|Fyler:1100|SNOMEDCT_US:15459006|Fyler:0606|MSH:C562831|UMLS:C0014116|UMLS:C1389016 Hole in center of heart|Atrioventricular septal defect|Endocardial cushion defect A defect of the atrioventricular septum of the heart. HP:0005364 obsolete Severe viral infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005364 HP:0004030 Patchy sclerosis of radial diaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004030 UMLS:C4025431 HP:0006696 Polymorphic and polytopic ventricular extrasystoles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006696 UMLS:C4024998 HP:0005365 Severe B lymphocytopenia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005365 UMLS:C4020824|UMLS:C1863715 Absent B cells|Absence of B cells A severe form of B lymphocytopenia in which the count of B cells is very low or absent. HP:0005366 Recurrent streptococcus pneumoniae infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005366 UMLS:C2169794 Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae. HP:0004035 Abnormality of the styloid process of ulna biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004035 UMLS:C4025427 HP:0006690 Myocardial calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006690 UMLS:C1096561|Fyler:1889 Calcified myocardium Calcium deposition in the myocardium. HP:0004034 Irregular olecranon biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004034 UMLS:C4025428 HP:0005360 Susceptibility to chickenpox biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005360 UMLS:C1855205 Increased susceptibility to chicken pox, as manifested by recurrent episodes of chicken pox. HP:0006691 Pulmonic valve myxoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006691 UMLS:C4025002 HP:0006692 Short chordae tendineae of the tricuspid valve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006692 UMLS:C4025001 Abnormally short chordae tendineae of the tricuspid valve. HP:0004033 Curved olecranon biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004033 UMLS:C4025429 HP:0006693 Myocardial steatosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006693 UMLS:C4025000 Steatosis in the myocardium. HP:0004032 Abnormality of the olecranon biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004032 UMLS:C4025430 HP:0031672 Reverse typical atrial flutter biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031672 A type of atrial flutter associated with rounded or bimodal positive deflections in inferior leads II, III and aVF, and a very characteristic bimodal negative wave in the shape of a W is seen in lead V1. HP:0030341 Decreased circulating follicle stimulating hormone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030341 UMLS:C4072889 A reduction of the circulating level of follicle-stimulating hormone (FSH). HP:0031673 Orthodromic atrioventricular reentrant tachycardia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031673 Orthodromic AVRT A type of atrioventricular reentrant tachycardia (AVRT) where the atrioventricular node is used for anterograde conduction and the accessory pathway for retrograde conduction. HP:0031674 Antidromic atrioventricular reentrant tachycardia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031674 Antidromic AVRT A type of atrioventricular reentrant tachycardia (AVRT) where the accessory pathway is used for anterograde conduction and the atrioventricular node for retrograde conduction. HP:0030344 Decreased circulating luteinizing hormone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030344 UMLS:C4072890 Decreased circulating luteinising hormone level A reduction in the circulating level of luteinizing hormone (LH). HP:0031675 Fascicular left ventricular tachycardia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031675 A ventricular tachycardia (VT) characterized by right bundle branch block (RBBB) and left axis deviation (LAD) on electrocardiogram (ECG). HP:0031670 Continuous heart murmur biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031670 A murmur that occurs in both systole and diastole. HP:0030340 obsolete Increased circulating gonadotropin level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030340 HP:0031671 Typical atrial flutter biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031671 Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative. HP:0030349 Decreased circulating androgen level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030349 UMLS:C4072894 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. HP:0004049 Decreased carpal angles of wrist biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004049 UMLS:C4025416 HP:0004048 Narrow joint spaces of wrist biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004048 UMLS:C4025417 HP:0004047 Wide ulnar metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004047 UMLS:C4021687 Broad ulnar metaphysis Increase in width (breadth) of the ulnar metaphysis. HP:0030345 Abnormal circulating luteinizing hormone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030345 SNOMEDCT_US:166374003|UMLS:C0580438 Abnormal luteinizing hormone level|Increased circulating lutropin An anomaly of the circulating level of luteinizing hormone (LH). HP:0031676 Monomorphic ventricular tachycardia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031676 A type of ventricular tachycardia that is characterized by uniform QRS complexes within each lead (i.e., each QRS is identical or nearly so). HP:0031677 Polymorphic ventricular tachycardia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031677 A type of ventricular tachycardia that is characterized by variable QRS complexes within each lead (i.e., QRS complexes may be different from beat to beat). HP:0005379 obsolete Severe T lymphocytopenia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005379 HP:0030346 Abnormal circulating follicle-stimulating hormone level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030346 UMLS:C4072891 An anomaly of the circulating level of follicle-stimulating hormone (FSH). HP:0031678 Atherosclerotic lesion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031678 A lesion associated with atherosclerosis, a multifactorial and multipart progressive disease manifested by the focal development within the arterial wall of lesions, that ranges from teh development of a fatty streak, plaque progression, and plaque disruption. Atherosclerotic lesions demonstrate consistent morphological characteristics, which indicate that each type may stabilize temporarily or permanently and that progression to the next type may require an additional stimulus. HP:0030347 Abnormal circulating androgen level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030347 UMLS:C4072892 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. HP:0030348 Increased circulating androgen level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030348 UMLS:C4072893 An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. HP:0031679 Type I atherosclerotic lesion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031679 Type I lesions represent the very initial changes and are recognized as an increase in the number of intimal macrophages and the appearance of macrophages filled with lipid droplets (foam cells). HP:0005374 Cellular immunodeficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005374 UMLS:C1855204 An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity. HP:0004042 Ulnar metaphyseal irregularity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004042 UMLS:C4021688 Irregular ulnar metaphysis Irregularity of the normally smooth surface of the metaphysis of the ulna. HP:0005375 obsolete Partial cellular immunodeficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005375 HP:0004041 Cupped ulnar metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004041 UMLS:C4025422 HP:0004040 Corner fragments of ulnar metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004040 UMLS:C4025423 HP:0005376 Recurrent Haemophilus influenzae infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005376 UMLS:C4025204 Recurrent H. influenzae infections Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae. HP:0004046 Spurred ulnar metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004046 UMLS:C4025418 HP:0004045 Sloping ulnar metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004045 UMLS:C4025419 A sloped configuration of the metaphysis (shaft) of the ulna. HP:0005372 Abnormality of B cell physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005372 UMLS:C1849242 Reduced B cell function|Abnormality of B cell physiology An abnormality of the physiological functioning of B cells. HP:0004044 Pointed ulnar metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004044 UMLS:C4025420 HP:0004043 Lytic defects of ulnar metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004043 UMLS:C4025421 HP:0031683 Type VI atherosclerotic lesion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031683 Type VI atherosclerotic lesions generally have the underlying morphology of type IV or V lesions, surface disruptions, hematoma, and thrombosis may be (although less often) superimposed on any other type of lesion and even on intima without an apparent lesion. Complicating features may arise because of individual differences in risk factors and tissue reactions. These may include differences in composition of the blood, the relative quantities and distributions in the components of the underlying lesion or intima, as well as modifications of shear and tensile forces to which the lesion or intima is exposed. Clinical imaging of lesions may be expected to contribute greatly to the understanding of type VI lesions and the associated clinical syndromes. HP:0030352 Abnormal serum insulin-like growth factor 1 level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030352 UMLS:C4072896 An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation. HP:0030353 Decreased serum insulin-like growth factor 1 biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030353 UMLS:C4072897 A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation. HP:0031684 Renal artery atherosclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031684 An atherosclerotic lesion located in the renal artery. HP:0031685 Abnormal stool composition biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031685 Abnormal feces composition|Abnormal faeces composition HP:0030354 Abnormal serum interferon level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030354 UMLS:C4072898 Abnormal levels of interferon in the blood. HP:0031686 Increased stool alpha1-antitrypsin concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031686 An abnormally elevated amount of alpha1-antitrypsin in the feces. HP:0030355 Abnormal serum interferon-gamma level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030355 UMLS:C4072899 Abnormal levels of interferon gamma measured in the blood circulation. HP:0031680 Type II atherosclerotic lesion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031680 Type II atherosclerotic lesions include the fatty streak lesion, the first grossly visible lesion, and are characterized by layers of macrophage foam cells and lipid droplets within intimal smooth muscle cells and minimal coarse-grained particles and heterogeneous droplets of extracellular lipid. HP:0030350 Erythematous papule biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030350 UMLS:C0747241 Red-blue papule A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color. HP:0031681 Type III atherosclerotic lesion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031681 Type III (intermediate) atherosclerotic lesions are the morphological and chemical bridge between type II and advanced lesions. Type III lesions appear in some adaptive intimal thickenings (progression-prone locations) in young adults and are characterized by pools of extracellular lipid in addition to all the components of type II lesions. HP:0030351 Urticarial plaque biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030351 UMLS:C4072895 A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter. HP:0031682 Type V atherosclerotic lesion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031682 Type V lesions are defined as lesions in which prominent new fibrous connective tissue has formed. When the new tissue is part of a lesion with a lipid core (type IV), this type of morphology may be referred to as fibroatheroma or type Va lesion. A type V lesion in which the lipid core and other parts of the lesion are calcified may be referred to as type Vb. A type V lesion in which a lipid core is absent and lipid in general is minimal may be referred to as type Vc. With these lesions, arteries are variously narrowed, generally more than with type IV. Importantly, as with type IV lesions, type V lesions may develop fissures, hematoma, and/or thrombus (type VI lesion), and for this reason too they are clinically relevant. HP:0004017 Exostoses of the radial metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004017 UMLS:C4025442 HP:0005349 Hypoplasia of the epiglottis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005349 UMLS:C1396772 Hypoplastic epiglottis Hypoplasia of the epiglottis. HP:0004016 Cupped radial metaphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004016 UMLS:C4025443 HP:0004015 Abnormality of radial metaphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004015 UMLS:C4025444 HP:0004014 Broad radial epiphyseal plate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004014 UMLS:C4021693 Wide radial epiphyseal plates Abnormal increase in width of the epiphyseal growth plate of the radius. HP:0005345 Abnormal vena cava morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005345 UMLS:C4025210 Abnormality of the vena cava An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava. HP:0031687 Abnormally loud pulmonic component of the second heart sound biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031687 Accentuation of the pulmonic component of the second heart sound HP:0030356 Increased serum interferon-gamma level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030356 UMLS:C4072900 An elevation in the concentration of interferon gamma measured in the blood circulation. HP:0005346 Abnormal facial expression biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005346 UMLS:C4025209 Abnormal facial expression HP:0030357 Small cell lung carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030357 MSH:D055752|SNOMEDCT_US:254633006|SNOMEDCT_US:254632001|UMLS:C0149925 Oat cell lung cancer|Oat cell carcinoma of lung|Small cell lung cancer Small cell lung cancer (SCLC) is a type of highly malignant lung cancer that is composed of small ovoid cells. In the past, SCLC was called oat cell carcinoma because the microscopic appearance of the cells was felt to resemble oats. SLCLC usually originates near the bronchi and in many cases may grow and metastasize quickly. HP:0031688 Erythroid dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031688 Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts. HP:0006677 Prolonged QRS complex biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006677 SNOMEDCT_US:991002|UMLS:C0235475 Prolonged QRS complex on EKG Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec. HP:0030358 Non-small cell lung carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030358 MSH:D002289|UMLS:C0007131|SNOMEDCT_US:254637007 Non-small cell lung cancer HP:0004019 Radial metaphyseal irregularity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004019 UMLS:C4021692 Irregular radial metaphysis Irregularity of the normally smooth surface of the metaphysis of the radius. HP:0031689 Megakaryocyte dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031689 Dysmegakaryopoiesis The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei. HP:0005347 Cartilaginous trachea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005347 UMLS:C1863363 HP:0004018 Flared radial metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004018 UMLS:C4025441 Broadening of the distal radius The presence of a splayed (i.e.,flared) metaphyseal segment of the radius. HP:0030359 Squamous cell lung carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030359 SNOMEDCT_US:254634000|UMLS:C0149782 A type of non-small cell lung carcinoma that is derived from stratified squamous epithelial cells. HP:0006679 Granulomatous coronary arteritis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006679 UMLS:C4025007 Inflammation of the coronary arteries involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells. HP:0005348 Inspiratory stridor biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005348 SNOMEDCT_US:58596002|UMLS:C0677600 Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities. HP:0005341 Autonomic bladder dysfunction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005341 UMLS:C4025212 Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system. HP:0006673 Reduced systolic function biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006673 UMLS:C4025008 HP:0005343 Hypoplasia of the bladder biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005343 UMLS:C1855335 Underdeveloped bladder|Hypoplastic bladder Underdevelopment of the urinary bladder. HP:0005344 Abnormal carotid artery morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005344 UMLS:C4025211 Abnormality of the carotid arteries Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches. HP:0004013 Medially fused radial epiphyseal plates biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004013 UMLS:C4025445 HP:0004012 Premature fusion of the radial epiphyseal plates biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004012 UMLS:C4025446 A premature fusion of the epiphyseal plates of the radius. Epiphyseal plates are located at the distal and proximal ends of the long bones, in this case of the radius and premature fusion will have an effect on the growh of the radial bone, inhibiting or at least disturbing the normal growth and development of the bone. HP:0006670 Impaired myocardial contractility biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006670 UMLS:C4025009 HP:0005340 Spastic/hyperactive bladder biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005340 UMLS:C1836904 HP:0004010 Small radial epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004010 UMLS:C4025447 HP:0006671 Paroxysmal atrial tachycardia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006671 UMLS:C0030587|SNOMEDCT_US:195069001 HP:0030363 Primary Caesarian section biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030363 UMLS:C4072903 Delivery by Caesarian section representing the first time the mother has delivered by Caesarian section. HP:0031694 Severe adenovirus infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031694 An unusually severe adenovirus infection. HP:0031695 Severe parainfluenza infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031695 An unusually severe infection by a parainfluenza virus. HP:0030364 Secondary Caesarian section biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030364 UMLS:C4072904 Delivery by Caesarian section representing where the mother has already had a previous Cesarean delivery, and this is a repeat Cesarean birth. HP:0031696 Disseminated viral infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031696 A viral infection that fails to be contained by the immune sytem and spreads throughout the body. HP:0030365 Vaginal birth after Caesarian biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030365 MSH:D016064|UMLS:C0080301 Vaginal birth after Caesarian (VBAC) refers to the situation where the mother has had a previous Cesarean delivery but has now delivered vaginally. HP:0030366 Delivery by Odon device biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030366 UMLS:C4072905 The Odon device is an instrument for assisted vaginal deliveries that is applied on the head of the baby and used to apply traction to assist the birth process. HP:0031697 Disseminated infection with live vaccine virus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031697 A dissemination viral infection caused by a live attenuated vaccine virus. HP:0031690 Opportunistic infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031690 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. HP:0031691 Severe viral infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031691 An unusually severe viral infection. HP:0030360 Large cell lung carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030360 UMLS:C0345958|SNOMEDCT_US:254629004 A type of non-small cell lung carcinoma that is derived from undifferentiated malignant neoplasms originating from transformed epithelial cells in the lung, and which is differentiate from small-cell lung carcinoma by the larger size of the anaplastic cells, a higher cytoplasmic-to-nuclear size ratio, and a lack of salt-and-pepper appearance of the chromatin. HP:0030361 Abnormal circulating eicosanoid concentration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030361 UMLS:C4072901 Abnormality of icosanoid metabolism Any deviation from the normal concentration in the blood circulation of an icosanoid (also known as eicosanoids). These are signaling molecules derived from oxidation of 20-carbon fatty acids. Most are produced from arachidonic acid, a 20-carbon polyunsaturated fatty acid (5,8,11,14-eicosatetraenoic acid). HP:0031692 Severe cytomegalovirus infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031692 An unusually severe infection by cytomegalovirus. HP:0030362 Reduced muscle carnitine level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030362 UMLS:C4072902 A reduction in the level of carnitine in muscle tissue. HP:0031693 Severe Epstein Barr virus infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031693 Severe EBV infection|Fulminant infectious mononucleosis An unusually severe Epstein Barr virus (EBV) infection. HP:0004028 Spurs of radial diaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004028 UMLS:C4025433 HP:0004027 Abnormality of radial diaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004027 UMLS:C4025434 An anomaly of the radial diaphysis. HP:0004026 Broad radial metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004026 UMLS:C4021691 Wide radial metaphysis Increase in width (breadth) of the radial metaphysis. HP:0004025 Spurred radial metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004025 UMLS:C4025435 HP:0031698 obsolete Disseminated Bacillus Calmette-Guerin infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031698 Failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis. HP:0005356 Decreased serum complement factor I biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005356 UMLS:C1970257 A reduced level of the complement component Factor I in circulation. HP:0006687 Aortic tortuosity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006687 UMLS:C4025003 Abnormal tortuous (i.e., twisted) form of the aorta. HP:0030367 Finger hyperphalangy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030367 UMLS:C4072906 Hyperphalangy is a digit morphology in which increased numbers of phalanges are arranged linearly within a digit. That is, there is an accessory phalanx that is arranged linearly with the other phalanges. HP:0005357 Defective B cell differentiation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005357 UMLS:C1859624 Reduced functionality of the process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity. HP:0030368 Hyperphalangy of the 2nd finger biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030368 UMLS:C4072907 Hyperphalangy of index finger An accessory phalanx of the index (second) finger that is arranged linearly with the other phalanges. Hyperphalangy of the index finger results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. Note that this term refers only to this type of hyperphalangy. HP:0006688 Paroxysmal tachycardia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006688 UMLS:C0039236|MSH:D013614|SNOMEDCT_US:12026006 HP:0031699 Disseminated cryptosporidium infection biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031699 Failure to contain infection by a protozoan of the genus Cryptosporidium, leading to spread to many parts of the body. HP:0006689 Bacterial endocarditis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006689 MSH:D004697|SNOMEDCT_US:301183007|UMLS:C0014121 Infective endocarditis A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves. HP:0030369 Induced vaginal delivery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030369 UMLS:C4072908 Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own. HP:0005359 Aplasia of the thymus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005359 MSH:C536288|UMLS:C0685894|SNOMEDCT_US:91918005|SNOMEDCT_US:702623002 Absent thymus|Absent thymic shadow|Athymia|Lack of thymic shadow Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination. HP:0004029 Lytic defects of radial diaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004029 UMLS:C4025432 HP:0004020 Irregular ossification of the radial metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004020 UMLS:C4025440 HP:0006683 Abnormal ventricular filling biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006683 UMLS:C4025005 An abnormality of filling of a ventricle with blood during diastole. HP:0005352 Severe T-cell immunodeficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005352 UMLS:C4025208 Severe T-cell immunodeficiency A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms. HP:0005353 Recurrent herpes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005353 UMLS:C4025207 Susceptibility to herpesvirus Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus. HP:0006684 Ventricular preexcitation with multiple accessory pathways biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006684 UMLS:C4025004 A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction. HP:0006685 Endocardial fibrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006685 UMLS:C0553980|SNOMEDCT_US:398716006|MSH:D004719 Endomyocardial fibrosis The presence of excessive connective tissue in the endocardium. HP:0005354 Lack of T cell function biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005354 UMLS:C1849426 Absent cellular immunity Complete inability of T cells to perform their functions in cell-mediated immunity. HP:0004024 Medially sloping radial metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004024 UMLS:C4025436 HP:0004023 Sloping radial metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004023 UMLS:C4025437 HP:0004022 Sclerotic radial metaphysis with longitudinal striations biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004022 UMLS:C4025438 HP:0006681 Absent atrioventricular node biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006681 UMLS:C4025006 HP:0006682 Ventricular extrasystoles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006682 SNOMEDCT_US:17338001|UMLS:C0151636|MSH:D018879|SNOMEDCT_US:251175005 Extra heart beat|Premature ventricular contractions|Skipped heartbeat|Missed heartbeat Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node. HP:0004021 Lytic defects of radial metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004021 UMLS:C4025439 HP:0032951 Renal tubular viral cytopathic changes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032951 Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. Distal tubules are more commonly involved than proximal tubules. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. Tubular destruction may be associated with necrotizing interstitial granulomas. Severe granulomatous tubulointerstitial nephritis appears to be characteristic of adenoviral infection and is quite rare in other viral infections. Focal wedge-shaped necrosis may occur in renal parenchyma. Immunostaining for adenovirus shows strong nuclear and cytoplasmic staining in infected cells. HP:0031620 Anterior chamber flare grade 3+ biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031620 Marked anterior chamber flare (iris and lens details hazy). HP:0032950 Abnormal renal tubular lumen morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032950 Abnormal renal tubular luminal morphology Abnormal structure or form of the lumen (opening) of kidney tubules. HP:0031625 Pseudoaneurysm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031625 A contained rupture of an artery with a disruption in all 3 layers of the arterial wall. HP:0032957 Dysmorphic hematuria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032957 Acanthocyturia The presence of dysmorphic urinary erythrocytes. This feature can be observed by phase-contrastmicroscopy, differential interference microscopy, and bright-field microscopy. The acanthocyte or G1 cell, which is a doughnut-shaped cell with one or more blebs, is reported to constitute a special form of dysmorphic erythro-cyte (D cell) specific for glomerular hematuria. HP:0032956 Renal tubular herpes simplex virus inclusions biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032956 Renal tubular nuclear inclusions that stain positive for herpes simplex virus (HSV). HSV is typically associated with multinucleated giant cells with nuclear inclusions and may cause hemorrhagic interstitial nephritis. HP:0031626 Coronary ostial atresia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031626 Atresia of coronary ostium Absence of the normal opening of a coronary ostium. There are normally two coronary ostia, which are site of origin of the main left or right main coronary artery and are located in the ascending aorta just above the aortic valve. HP:0031627 Globus pallidus calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031627 Pathological deposition of calcium salts in the globus pallidus. HP:0032959 Intratubular calcium oxalate casts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032959 Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney. HP:0031628 Aborted sudden cardiac death biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031628 Sudden cardiac arrest Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it. HP:0032958 Urinary oval fat bodies biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032958 The presence in the urine of desquamated tubular epithelial cells or macrophages filled with lipid droplets. HP:0031621 Anterior chamber flare grade 4+ biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031621 Intense anterior chamber flare (fibrin/plastic aqueous). HP:0032953 Renal tubular cytomegalovirus inclusions biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032953 Characteristic intranuclear glassy-appearing basophilic inclusions with surrounding halo (owl's eye-type inclusion) and marked increase in the size of the cell (cytomegaly), particularly in tubular epithelial cells and in endothelial cells. Often accompanied by cytopathic changes including patchy interstitial pleomorphic infiltrate with lymphocytes, plasma cells, and macrophages. HP:0031622 Brown anomaly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031622 Brown syndrome An ocular motility defect where the affected eye(s) does not elevate in adduction but has full depression in adduction. It can be congenital or acquired from injury to or defect of the superior oblique tendon or trochlea and has a positive forced duction test result. HP:0032952 Usual-type tubular atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032952 Common-type renal 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. HP:0031623 Brow ptosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031623 Drooping brow Drooping of the upper eyebrow below the superior orbital rim. HP:0032955 Renal tubular polyoma virus inclusions biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032955 Renal ltubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection. HP:0031624 Moderate myopia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031624 A moderate form of myopia with refractive error of between -3.00 and -6.00 diopters. HP:0032954 Renal tubular adenovirus inclusions biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032954 Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbersof neutrophils, with interstitial edema and hemorrhage. HP:0031629 Impaired tandem gait biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031629 Clumsy tandem walking Reduced ability to walk in a straight line while placing the feet heel to toe. HP:0004090 obsolete Advanced maturation/advanced ossification of terminal thumb phalanx epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004090 HP:0032960 Intratubular calcium phosphate casts biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032960 Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney. HP:0032962 Tubular microcystic change biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032962 Dilated renal tubules (over twice the diameter of a normal proximal tubule) containing eosinophilic amorphous material. This feature is generally accompanied by scalloping of the cast profile. The epithelium lining the microcyst is generally flattened and does not reveal brush border. HP:0031630 Abnormal subpleural morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031630 Any structural anomaly located between the pleura and the chest wall. HP:0032961 Magnesium ammonium phosphate crystalluria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032961 Struvite urinary crystals Magnesium ammonium phosphate crystals in the urine. HP:0031631 Subpleural honeycombing biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031631 So-called honeycombs (variably sized cysts in a background of densely scarred tissue) located in the subpleural space. HP:0030300 10 pairs of ribs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030300 UMLS:C4022526 10 pairs of ribs Presence of only 10 (instead of the usual 12) pairs of ribs. HP:0030305 Decreased number of vertebrae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030305 UMLS:C4022522 HP:0031636 Anomalous origin of the right common carotid artery from the aorta biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031636 The right common carotid artery normally originates from the brachiocephalic artery. This term refers to an origin of this artery directly from the aorta. HP:0032968 Expiratory air trapping biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032968 Abnormal retention of gas within a lung or part of a lung, as a result of airway obstuction of abnormalities in lung compliance. In the classic presentation, the lung will appear normal at inspiration, but on exhalation, the diseased portions of the lung which have lost connective tissue recoil will remain lucent while the healthy portions of the lung will become more dense due to atelectasis. This helps distinguish it from mosaic attenuation due to patchy fibrosis, as occurs with nonspecific interstitial pneumonia, and in early usual interstitial pneumonitis (the hallmark imaging diagnosis of interstitial lung disease) in which there is no change with inspiration and expiration. HP:0032967 Panacinar emphysema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032967 Panacinar emphysema involves all portions of the acinus and secondary pulmonary lobule more or less uniformly. It predominates in the lower lobes and is the form of emphysema associated with1-antitrypsin deficiency. CT scans show a generalized decrease of the lung parenchyma with a decrease in the caliber of blood vessels in the affected lung. Severe panacinar emphysema may coexist and merge with severe centrilobular emphysema. The appearance of feature less decreased attenuation may be indistinguishable from severe constrictive obliterative bronchiolitis. HP:0031637 Right coronary artery ostial atresia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031637 Absence of the normal opening of the coronary ostium from which the right main coronary artery originates. HP:0030306 11 thoracic vertebrae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030306 UMLS:C4022521 The presence of 11 instead of the normal 12 thoracic vertebrae. HP:0031638 Anomalous origin of the left anterior descending artery from the pulmonary artery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031638 The left anterior descending artery (LAD) branches off from the pulmonary artery. HP:0030307 Flared lower limb metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030307 UMLS:C4022520 Flared metaphysis of lower limb bone The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg. HP:0030308 Flared distal tibial metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030308 UMLS:C4022519 Flared outermost metaphysis of shinbone|Flared outermost metaphysis of shankbone The presence of a splayed (i.e.,flared) metaphyseal segment of the distal tibia. HP:0032969 Traction bronchiectasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032969 Distortion of the bronchial airways due to mechanical traction on the bronchi resulting from fibrosis of the surrounding lung parenchyma. CT findings represent irregular bronchial dilatation caused by surrounding retractile pulmonary fibrosis. Dilated airways are usually identifiable as such but may be seen as cysts. HP:0031639 Absent left main coronary artery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031639 Absent LMCA The left main coronary artery (LMCA) is absent and the left anterior descending (LAD) and left circumflex (LCX) arteries arise from separate but adjacent ostia in the left sinus of Valsava. HP:0031632 Anomalous origin of the right subclavian artery from the descending aorta biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031632 Abnormal origin of the right subclavian artery from the descending aorta. The right subclavian artery normally arises from the brachiocephalic trunk, which divides into the right common carotid artery and right subclavian artery. HP:0030301 Abnormality of the anterior commissure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030301 UMLS:C4022525 An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts. HP:0032964 Uric acid crystalluria biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032964 The presence of uric acid crystals in the urine. HP:0030302 Agenesis of the anterior commissure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030302 UMLS:C1851087 Absence of the anterior commissure. HP:0031633 Isolation of the left subclavian artery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031633 Fyler:2732 The loss of continuity between the left subclavian artery and the aorta, with persistent connection to the homolateral pulmonary artery through the patent (PDA) or nonpatent ductus arteriosus. HP:0032963 Complex renal cyst biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032963 A renal cyst characterized by epithelium lined space (squamous/columnar) with septations. HP:0031634 Anomalous origin of the left common carotid artery from the main pulmonary artery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031634 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. HP:0032966 Centrilobular emphysema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032966 Centriacinar emphysema A type of emphysema characterized by destroyed centrilobular alveolar walls and enlargement of respiratory bronchioles and associated alveoli. This is the commonest form of emphysema in cigarette smokers. CT findings are centrilobular areas of decreased attenuation, usually without visible walls, of nonuniform distribution and predominantly located in upper lung zones. HP:0030303 Hypoplastic anterior commissure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030303 UMLS:C4022524 Underdevelopment of the anterior commissure. HP:0032965 Interstitial emphysema biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032965 Interstitial emphysema is characterized by air dissecting within the interstitium of the lung, typically in the peribronchovascular sheaths, interlobular septa, and visceral pleura. It is most commonly seen in neonates receiving mechanical ventilation. It is rarely recognized radiographically in adults and is infrequently seen on CT scans. It appears as perivascular lucent or low attenuating halos and small cysts. HP:0031635 Anomalous origin of the left common carotid artery from the brachiocephalic artery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031635 Anomalous origin of the left common carotid artery from the brachiocephalic trunk The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the brachiocephalic artery. HP:0030304 Abnormal number of vertebrae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030304 UMLS:C4022523 A deviation from the normal number of vertebrae in the spinal column. HP:0004083 obsolete Laterally deviated terminal thumb phalanx biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004083 HP:0030309 Flared distal fibular metaphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030309 UMLS:C4022518 Flared outermost wide portion of of calf bone The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula. HP:0005390 Recurrent opportunistic infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005390 UMLS:C1832324 Frequent 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. HP:0004060 Trident hand biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0004060 UMLS:C0426874|SNOMEDCT_US:249755001 trident abnormality|trident deformity A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits. HP:0032971 Computed tomographic halo sign biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032971 CT halo sign CT finding of ground-glass opacity surrounding a nodule or mass. It was first described as a sign of hemorrhage around foci of invasive aspergillosis. The halo sign is nonspecific and may also be caused by hemorrhage associated with other types of nodules or by local pulmonary infiltration by neoplasm. HP:0032970 Traction bronchiolectasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032970 HP:0031640 Abnormal radial artery morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031640 Any structural anomaly of the radial artery. HP:0030310 Upper extremity joint dislocation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030310 UMLS:C4022517 Dislocated arm joints Displacement or malalignment of one or more joints in the upper extremity (arm). HP:0032973 Abnormal bronchoalveolar lavage fluid morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032973 Abnormal type or counts of nucleated immune cells and acellular components in bronchoalveolar lavage (BAL) fluid. BAL us performed with a fiberoptic bronchoscope in the wedged position within a selected bronchopulmonary segment. BAL is commonly used to inform the differential diagnosis of interstitial lung disease or to monitor therapeutic interventions. HP:0032972 Nodular-centrilobular without tree-in-bud pattern on pulmonary HRCT biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032972 A nodular pattern on pulmonary high-resolution computed tomography which are anatomically located centrally within secondary pulmonary lobules. Centrilobular nodules may be dense (i.e., solid) and of homogeneous opacity or ground-glass opacity, and may range from a few millimeters to about 1 cm in size. Because of the similar size of secondary lobules, centrilobular nodules often appear to be evenly spaced. Centrilobular nodules are usually separated from the pleural surfaces, fissures, and interlobular septa by a distance of at least several millimeters. They may appear patchy or diffuse in different diseases. HP:0030311 Lower extremity joint dislocation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030311 UMLS:C4022516 Dislocated leg joints Displacement or malalignment of one or more joints in the lower extremity (leg). HP:0031647 Saccular aortic arch aneurysm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031647 An eccentric abnormal localized widening (dilatation) of the aortic arch that involves only a portion of the circumference of the vessel wall. HP:0032979 Hemosiderin-laden macrophages in bronchoalveolar fluid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032979 Accumulation of hemosiderin laden alveolar macrophages|Siderophages in bronchoalveolar fluid Hemosiderin-laden macrophages (HLM) in bronchoalveolar lavage (BAL) fluid were originally known as adiagnostic biomarker of alveolar hemorrhage, but have also been observed in idiopathic pulmonary fibrosis (IPF) with histopathological pattern of usual interstitial pneumonia (UIP). HP:0031648 Penetrating aortic ulcer biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031648 A focal defect in the elastic lamina of the aortic wall that leads to localized medial disruption and potential rupture. HP:0032978 Lipid-laden macrophages in bronchoalveolar fluid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032978 Accumulation of lipids in alveolar macrophages with droplet-shaped fat inclusions. HP:0004059 Radial club hand biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004059 UMLS:C4025414 Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius. HP:0030318 Angular cheilitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030318 UMLS:C0221237|SNOMEDCT_US:266429005 Commissural cheilitis|Red and sore corners of the mouth|Angular stomatitis|Inflammation of oral commisures|Inflammation of corners of the mouth|Angular cheilosis A type of inflammation of the lips involving one or both of the corners of the mouth. HP:0031649 Aortic rupture biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031649 Tearing of the aortic wall generally associated with profuse internal bleeding. HP:0030319 Weakness of facial musculature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030319 UMLS:C4022514 Facial weakness|Reduced facial muscle strength|Facial muscle weakness|Decreased facial muscle strength|Decreased strength of facial muscles|Face weakness|Weakness of facial musculature|Weakness of face|Myasthenia of facial muscles Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve). HP:0004058 Hand monodactyly biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004058 UMLS:C4025415 HP:0005389 Depletion of components of the alternative complement pathway biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005389 UMLS:C1969220 An abnormal reduction in the components of the alternative complement pathway, such as the C3 protein or its cleavage products. HP:0032975 Abnormal bronchoalveolar fluid protein level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032975 Abnormal level of proteins in the broncho-alveolar fluid|Abnormal biochemical composition of broncho-alveolar fluid Any deviation from the normal concentration of protein in the bronchoalveolar fluid. HP:0031643 Fusiform ascending tubular aorta aneurysm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031643 An eccentric abnormal localized widening (dilatation) of the ascending tubular aorta that involves only a portion of the circumference of the vessel wall. HP:0030312 Obliteration of the calvarial diploe biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030312 UMLS:C1860855 Obliteration of cranial cancellous bone Absence of the spongy bone structure (or tissue) of the internal part of the skull cap (i.e., of the calvarial diploe). HP:0032974 Abnormal cellular composition of bronchoalveolar fluid biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032974 Abnormal cell differential of broncho-alveolar fluid Deviation from the commonly in healthy people observe cellular distribution. Normal ranghes are macrophages over 80%, lymphocytes less than 15%, neutrophils less than 3%, eosinophils less than 0.5%, mast cells less than 0.5%. HP:0030313 Abnormal periosteum morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030313 UMLS:C4022515 An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones. HP:0031644 Fusiform abdominal aortic aneurysm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031644 A concentric abnormal localized widening (dilatation) of the abdominal aorta that involves the full circumference of the vessel wall HP:0031645 Saccular abdominal aortic aneurysm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031645 An eccentric abnormal localized widening (dilatation) of the abdominal aorta that involves only a portion of the circumference of the vessel wall. HP:0030314 Periostosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030314 UMLS:C1409412 Abnormal deposition of periosteal bone. HP:0032977 Elevated bronchoalveolar lavage fluid neutrophil proportion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032977 Elevated level of neutrophils in broncho-alveolar lavage fluid Usually, Neutrophils make up less than 3% of all cells found in the broncho-alveloar lavage fluid. In children, standard value of neutrophils is higher depending on their age (children under the age of 5 show a maximum value of 10%). This elevated cell proportion is a sign for acute and chronic infections (HP:0012387, HP:0006538) and can be associated to specific diseases. HP:0031646 Fusiform aortic arch aneurysm biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031646 A concentric abnormal localized widening (dilatation) of the aortic arch that involves the full circumference of the vessel wall. HP:0032976 Elevated bronchoalveolar lavage fluid lymphocyte proportion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032976 Usually, Lymphoycytes make up less than 15% of all cells found in the bronchoalveloar lavage fluid. This elevated cell proportion can be induced by virus or drugs, or is associated with specific diseases. HP:0004053 Dysharmonic maturation of the hand bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004053 UMLS:C4021685 Disharmonic maturation of the hand bones|Dysharmonic ossification of the hand bones Pattern of hand-wrist development does not fit the normal sequence of ossification of the individual bones of the hand. HP:0004052 Delayed ossification of the hand bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004052 UMLS:C4021686|UMLS:C4020833 Delay maturation/delayed ossification of the hand|Delayed maturation of the hand bones Ossification of hand bones is less advanced than would be expected according to age-adjusted norms. HP:0005386 Recurrent protozoan infections biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005386 UMLS:C4025202 Increased susceptibility to protozoan infections, as manifested by recurrent episodes of protozoan infection. HP:0004051 Advanced ossification of the hand bones biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004051 UMLS:C4020834 Accelerated maturation of hand bones|Advanced maturation of the hand bones Ossification of hand bones at an earlier age than normal. HP:0005387 Combined immunodeficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005387 UMLS:C0494261 A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications. HP:0004050 Absent hand biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0004050 UMLS:C0265594|SNOMEDCT_US:371199008 Absent hand|Acheiria The total absence of the hand, with no bony elements distal to the radius or ulna. HP:0005381 Recurrent meningococcal disease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005381 UMLS:C1970263 Increased susceptibility to neisseria meningitidis infections Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus. HP:0004057 Mitten deformity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004057 UMLS:C1969236 Pseudosyndactyly Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a "mitten" hand deformity. HP:0005384 Defective B cell activation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005384 UMLS:C1846551 A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of HP:0004054 Sclerosis of hand bone biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004054 UMLS:C4021684 Hand bone sclerosis|Increased bone density in hand bones|Generalized sclerosis of hand bones|Increased bone density in hand bone Osteosclerosis affecting one or more bones of the hand. HP:0031650 Abnormal atrioventricular valve physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031650 Any functional defect of the mitral or tricuspid valve. HP:0032982 obsolete Intraalveolar phospholipid accumulation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032982 HP:0031651 Abnormal tricuspid valve physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031651 Any functional defect of the tricuspid valve. HP:0030320 Increased intervertebral space biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030320 UMLS:C4022513 An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space. HP:0032981 Absent bronchoalveolar dimeric surfactant-protein B biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032981 Significantly decreased level or failed detection of surfactant protein B in broncho-alveolar lavage fluid. HP:0031652 Abnormal aortic valve physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031652 HP:0030321 Abnormal vertebral artery morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030321 UMLS:C4022512 Abnormality of the vertebral artery 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. HP:0032984 Abnormal alveolar macrophage morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032984 Alveolar macrophages usually make up the majority of cells in the bronchoalveolar space (over 80%). The may contain intracellular material depending on underlying diseases or due to exposition to inhaled particles. HP:0030322 Vertebral artery hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030322 UMLS:C1868737 Underdevelopment of the vertebral artery. HP:0031653 Abnormal heart valve physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031653 Any functional abnormality of a cardiac valve. HP:0032983 Atoll sign biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032983 Reversed halo sign CT finding of central ground-glass opacity surrounded by denser consolidation of crescentic shape (forming more than three-fourths of a circle) or complete ring of at least 2 mm in thicknes. A rare sign, it was initially reported to be specific for cryptogenic organizing pneumonia, but was subsequently described in patients with paracoccidioidomycosis. HP:0032980 Absent bronchoalveolar surfactant-protein C biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032980 Significantly decreased level or failed detection of surfactant protein C in broncho-alveolar lavage fluid. Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-C may result of surfactant metabolism dysfunction and is also observed in patients with other diffuse parenchymal lung diseaes, pathogenetically related to the alveolar surfactant region. HP:0030327 Abnormal osteoclast count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030327 UMLS:C4022508 An anomaly in the number of osteoclasts, bone-resorbing cells that develop from macrophages. HP:0031658 Third heart sound biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031658 S3|Ventricular gallop The third heart sound (S3) is related to rapid filling in diastole. S3 can be a normal finding in children and adolescents but suggests heart failure in older patients. HP:0031659 Fourth heart sound biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031659 S4|Presystolic gallop|Atrial gallop The fourth heart sound (S4) is a low-pitched sound that occurs just before the first heart sound (S1) when the atria contract to force blood into the left ventricle, that is, coincident with late diastolic filling of the ventricle due to atrial contraction. HP:0030328 Decreased osteoclast count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030328 UMLS:C4022507 Decreased number of osteoclasts. HP:0032989 Delayed ability to roll over biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032989 Delayed ahcievement of the ability to roll front to back and back to front. HP:0030329 Retinal thinning biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030329 UMLS:C3549703 Retinal thinning Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT). HP:0032986 Smoker-inclusions in alveolar macrophages biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032986 In otherwise healthy smokers, characteristic so called smoker-inclusion can be found within the macrophages in the bronchoalveolar fluid. These blue/ black/ round/ oval cytoplasmic inclusions consist of pigmented lipid deposits. HP:0031654 Abnormal pulmonary valve physiology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031654 Any functional anomaly of the pumonary valve. HP:0030323 Unilateral vertebral artery hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030323 UMLS:C3279090 Underdevelopment of the vertebral artery on one side. HP:0032985 Dust particle inclusion in alveolar macrophages biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032985 Accumulation of inhaled, nondigestable particles in macrophages. HP:0030324 Bilateral vertebral artery hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030324 UMLS:C4022511 Underdevelopment of the vertebral artery on both sides. HP:0031655 Quadricuspid aortic valve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031655 The presence of an aortic valve with four instead of the normal three cusps (flaps). HP:0032988 Persistent head lag biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032988 Headlag|Head lag The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows: 0 = head drops and stays back, 1 = tries to lift head but drops it back, 2 = able to lift head slightly, 3 = lifts head in line with body, and 4 = head in front of body. This term applies if head lag persists beyond an expected age at a level of 0 or 1. Persistent head lag beyond age 4 mo has been linked to poor outcomes. HP:0031656 Systolic anterior motion of the mitral valve biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031656 Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole. HP:0030325 Cervicomedullary schisis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030325 UMLS:C4022510 Fissure within the spinal cord of the neck. HP:0030326 Abnormal macrophage count biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0030326 UMLS:C4022509 An anomaly in the number of macrophages. HP:0032987 Elevated bronchoalveolar lavage fluid eosinophil proportion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032987 Usually, eosinophils make up less than 0.5% of all cells found in the broncho-alveloar lavage fluid. But in eosinophilic lung disease, the eosinophil cell proportion typically represents more than 25%. Comment: An elevated level of eosinophil cells are also a result of infections, or an allergic reaction or can be drug-induced. HP:0031657 Abnormal heart sound biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031657 Any abnormal noise generated by the beating heart. HP:0005396 Susceptibility to coronavirus 229e biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005396 UMLS:C1852539 Increased susceptibility to coronavirus 229e, as manifested by recurrent episodes of coronavirus 229e. HP:0005397 obsolete Exaggerated cellular immune processes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005397 HP:0004066 obsolete Laterally deviated thumb phalanges biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004066 HP:0006619 Anterior rib punctate calcifications biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006619 UMLS:C1859120 Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs. HP:0007949 obsolete Progressive macular scarring biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007949 HP:0007946 Unilateral narrow palpebral fissure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007946 UMLS:C4280419|UMLS:C1866805 Narrow palpebral fissure, unilateral|Unequal size of opening between the eyelids A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only. HP:0032913 Focal aware pedal automatism seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032913 A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset and during which awareness is fully retained throughout. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs. HP:0032912 Focal aware manual automatism seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032912 A type of focal automatism seizure characterized by manual automatisms at onset and during which awareness is fully retained throughout. HP:0007945 obsolete Choroidal degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007945 HP:0006615 Absent in utero rib ossification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006615 UMLS:C1842695 Absent rib calcification in utero Lack of formation and mineralization of the ribs in utero. HP:0007948 Dense posterior cortical cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007948 UMLS:C4024767 A type of posterior cortical cataract characterized by dense lenticular opacities. HP:0032915 Focal aware vocal automatism seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032915 A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset and during which awareness is fully retained throughout. HP:0007947 Pericentral retinitis pigmentosa biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007947 UMLS:C1849398|MSH:C564838 A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery. HP:0032914 Focal aware perseverative automatism seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032914 A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset and during which awareness is fully retained throughout. HP:0006610 Wide intermamillary distance biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0006610 SNOMEDCT_US:423230008|UMLS:C1827524 Widely spaced nipples|Wide-spaced nipples|Widely-spaced nipples A larger than usual distance between the left and right nipple. HP:0007942 Internal ophthalmoplegia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007942 MSH:D009886|SNOMEDCT_US:232146005|UMLS:C0339693 Paralysis of the iris and ciliary apparatus. HP:0006611 Decreased number of sternal ossification centers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006611 UMLS:C1856223 Decreased number of sternal ossification centres 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. HP:0007941 Limited extraocular movements biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007941 UMLS:C1858427 Limited extraocular movement HP:0032911 Focal aware orofacial automatism seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032911 A type of focal automatism seizure characterized by orofacial automatisms at onset and during which awareness is fully retained throughout. HP:0007944 Intermittent microsaccadic pursuits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007944 UMLS:C4024768 HP:0007943 Congenital stapes ankylosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007943 UMLS:C1866657 A form of stapes ankylosis with congenital onset. HP:0032910 Focal aware automatism seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032910 A type of focal automatism seizure during which awareness is fully retained throughout. HP:0032917 Focal aware sexual automatism seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032917 A type of focal automatism seizure characterized by involuntary sexual behavior at onset and during which awareness is fully retained throughout. HP:0032916 Focal aware verbal automatism seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032916 A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset and during which awareness is fully retained throughout. HP:0032919 Focal aware head nodding automatism seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032919 A type of focal automatism seizure characterized by involuntary head nodding at onset and during which awareness is fully retained throughout. HP:0032918 Focal impaired awareness orofacial automatism seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032918 A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by orofacial automatisms at onset. HP:0032924 Focal impaired awareness verbal automatism seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032924 A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive words, phrases, or brief sentences at onset. HP:0007957 Corneal opacity biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0007957 UMLS:C0010038|SNOMEDCT_US:413921009|SNOMEDCT_US:95735008|SNOMEDCT_US:64634000|UMLS:C0521719|MSH:D003318 Scarring or clouding of the cornea of the eye|Corneal opacities|Corneal clouding|Reduction of corneal clarity A reduction of corneal clarity. HP:0006625 Multifocal breast carcinoma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006625 UMLS:C2986662 Multifocal breast cancer Breast carcinoma that is bilateral or otherwise multifocal. HP:0007956 obsolete Bilateral choroid coloboma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007956 HP:0032923 Focal impaired awareness vocal automatism seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032923 A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset. HP:0032926 Focal impaired awareness head nodding automatism seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032926 A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary head nodding at onset. HP:0006628 Absent sternal ossification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006628 UMLS:C4280443|UMLS:C1857074 Absent bone maturation in sternum|Lack of sternal ossification|Absent sternal mineralization Lack of formation of mineralized bony tissue of the sternum. HP:0007958 Optic atrophy from cranial nerve compression biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007958 UMLS:C4024763 HP:0032925 Focal impaired awareness sexual automatism seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032925 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. HP:0032920 Focal impaired awareness manual automatism seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032920 A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by manual automatisms at onset. HP:0006623 Costochondral joint sclerosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006623 UMLS:C4021588 Sclerotic costochondral joints Abnormal increase in density of the tissue at the costochondral junctions. HP:0032922 Focal impaired awareness perseverative automatism seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032922 A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by inappropriate continuation of pre-seizure movement or behavior at onset. HP:0032921 Focal impaired awareness pedal automatism seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032921 A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs. HP:0007950 Peripapillary chorioretinal atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007950 UMLS:C4024765 Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head). HP:0032928 Elevated CSF neurofilamant light chain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032928 Definition: Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large calibre myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases. HP:0032927 Focal impaired awareness undressing automatism seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032927 A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary undressing at onset. HP:0032929 Abnormal chondrocyte morphology biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032929 Any abnormal structure of a chondrocyte, which is a polymorphic cell that forms cartilage. HP:0007928 Abnormal flash visual evoked potentials biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007928 UMLS:C4024772 Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room. HP:0007929 Peripheral retinal detachment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007929 UMLS:C4024771 Separation of the inner layers of the retina (neural retina) from the pigment epithelium occuring near the outer limit (periphery) of the retina. HP:0031603 Impaired nasal mucociliary clearance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031603 Abnormal saccharine test 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. HP:0007924 Slow decrease in visual acuity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007924 UMLS:C3278981|UMLS:C1853141 Slow decrease in sharpness of vision|Subacute deterioration of visual acuity|Decreased visual acuity, slowly progressive HP:0032935 Posterior crocodile shagreen of the cornea biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032935 Grayish, polygonal pattern of opacities with intervening clear zones across the central cornea that resembles crocodile skin. HP:0031604 Agenesis of the carotid canal biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031604 Bony carotid canal agenesis A developmental defect characterized by the lack of formation of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse. HP:0032934 Spontaneous cerebrospinal fluid leak biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032934 A spontaneous cerebrospinal fluid leak (SCSFL) is a spontaneous and unexplained leak of the cerebrospinal fluid from the dura surrounding either the brain (cranial leak) or spine (spinal leak). HP:0007923 obsolete Foveal hyperplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007923 HP:0032937 Recurrent, involuntary and intrusive distressing memories biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032937 After suffering psychological trauma, people can repeatedly experience sensory-perceptual impressions of the event, which intrude involuntarily into consciousness. These intrusive memories typically take the form of visual images (e.g., pictures in the mind's eye), but can also include sounds, smells, tastes and bodily sensations, and come with a range of negative emotions associated with the hotspots in the trauma memory. HP:0031605 Abnormality of fundus pigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031605 Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve. HP:0032936 Intrusion symptom biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032936 Re-experiencing symptom Unintentional reexperiencing a traumatic event comprising symptoms are usually sensory impressions and emotional responses from the trauma that appear to lack a time perspective and a context. HP:0031606 Retinal cotton wool spot biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031606 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. HP:0007925 Lacrimal duct aplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007925 UMLS:C4024773 Absent tear duct A congenital defect resulting in absence of the lacrimal duct. HP:0032931 obsolete Focal impaired awareness cognitive seizure with impaired attention biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032931 HP:0007920 obsolete Congenital chorioretinal dystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007920 HP:0031600 P wave inversion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031600 P wave below instead of above the baseline. P-wave inversion in the inferior leads may indicate a non-sinus origin of the P waves. HP:0032930 Lacunar halos around chondrocytes biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032930 Concentric rings around the chondrocytes. HP:0007922 Hypermyelinated retinal nerve fibers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007922 UMLS:C1849151 Retinal striation|Hypermyelinated retinal nerve fibres HP:0032933 Airway hyperresponsiveness biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032933 An increased sensitivity of the airways to an inhaled constrictor agonist, a steeper slope of the dose-response curve, and a greater maximal response to the agonist. HP:0031601 P pulmonale biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031601 The presence of tall, peaked P waves in EKG lead II. HP:0032932 Increased circulating pancreatic triacylglycerol lipase level biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032932 Elevated circulating pancreatic triacylglycerol lipase activity An increased level of triacylglycerol lipase in the blood circulation (can be measured in serum or plasma). HP:0031602 Abnormal mucociliary clearance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031602 Abnormal mucociliary transport An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary beating. HP:0032939 Physiological reactivity to cues biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032939 Marked physiological reactions to internal or external cues that symbolize or resemble an aspect of the traumatic event(s). HP:0031607 Pelvic organ prolapse biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031607 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. HP:0032938 Recurrent trauma-related distressing dreams biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032938 Recurrent distressing dreams in which the content and/or affect of the dream are related to the traumatic event or events. HP:0031609 Geographic atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031609 Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium. HP:0032940 Dissociative reaction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032940 A disruption and/or discontinuity in the normal integration of consciousness, memory, identity, emotion, perception, body representation, motor control, and behavior. Clinical presentations of dissociation may include a wide variety of symptoms, including experiences of depersonalization, derealisation, emotional numbing, flashbacks of traumatic events, absorption, amnesia, voice hearing, interruptions in awareness, and identity alteration. HP:0007939 Blue cone monochromacy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007939 MSH:C536238|UMLS:C0339537|SNOMEDCT_US:24704003 Blue cone monochromatism|Incomplete achromatopsia|S-cone monochromacy A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. HP:0006607 Precocious costochondral ossification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006607 UMLS:C1849049 Early ossification of the costochondral junction, which is the joint between the ribs and costal cartilage in the front of the rib cage. HP:0006608 Midclavicular hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006608 UMLS:C1844530 Underdeveloped middle portion of the collarbone Underdevelopment of the middle portion of the clavicle. HP:0006603 Flared, irregular rib ends biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006603 UMLS:C1865833 Flared, irregular rib ends HP:0032946 Renal cortical interstitial inflammation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032946 Histopathological findings of inflammation of the renal interstitium involving fibrotic as well as non-fibrotic renal cortex, composed of lymphocytes, monocytes, plasma cells. HP:0031614 Inferior retinal coloboma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031614 A notch or cleft of the lower part of the retina. HP:0007935 Juvenile posterior subcapsular lenticular opacities biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007935 UMLS:C1863408 HP:0031615 Hypopyon biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031615 Presence of pus (appears as a white fluid) producing a fluid level in the inferior part of the anterior chamber. HP:0032945 Renal interstitial inflammation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032945 Histopathological findings of inflammation of the renal interstitium potentially involving fibrotic as well as non-fibrotic areas, composed of lymphocytes, monocytes, plasma cells. HP:0007937 Reticular pigmentary degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007937 UMLS:C4024769 Fishnet retinal pigmentation|Honeycomb retinal degeneration A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus. HP:0031616 Anterior chamber flare biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031616 An abnormal appearance of the beam of light traveling through the anterior chamber of the eye in a slit lamp examination. The flare is produced by an increased concentration of proteins in the aqueous humor in the anterior chamber. HP:0032948 Renal interstitial fibrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032948 The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic. HP:0007936 Restrictive external ophthalmoplegia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007936 UMLS:C4020806|UMLS:C1865918 Restrictive external ophthalmoplegia, bilateral|Restrictive ophthalmoplegia Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited. HP:0032947 Renal medullary interstitial inflammation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032947 Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells. HP:0006606 Irregular chondrocostal junctions biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006606 UMLS:C1861199 Irregular costochondral margins Irregular surface of the normally relatively smooth border between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. HP:0032942 Avoidance of stimuli associated with traumatic event biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032942 Avoidance of or efforts to avoid distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s). Avoidance of or efforts to avoid external reminders (people, places, conversations, activities, objects, situations) that arouse distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s). HP:0031610 Recurrent shoulder dislocation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031610 Multiple shoulder dislocation Shoulder dislocation occurring repeated times. HP:0006600 Progressive calcification of costochondral cartilage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006600 UMLS:C1968577 HP:0007930 obsolete Prominent epicanthal folds biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007930 HP:0031611 Sub-inner limiting membrane hemorrhage biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031611 Sub-ILM hemorrhage|Sub-inner limiting membrane haemorrhage|Sub-ILM haemorrhage A type of intraretinal hemorrhage that is located in the superficial retina between the inner limiting membrane and the retinal nerve fiber layer. HP:0032941 Intense psychological distress to cues biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032941 Intense or prolonged psychological distress at exposure to internal or external cues that symbolize or resemble an aspect of the traumatic event or events. HP:0007933 Broad lateral eyebrow biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007933 UMLS:C1837733 Wide lateral eyebrow Regional increase in the width (height) of the lateral eyebrow. HP:0032944 Alkaline urine biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032944 Urine pH of 8 or higher. HP:0031613 Inferior chorioretinal coloboma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031613 Absence of a region of the retina, retinal pigment epithelium, and choroid at the lower part of the fundus. HP:0007932 Bilateral congenital mydriasis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007932 UMLS:C4024770 Congenital abnormal dilation of the pupil on both sides. HP:0032943 Abnormal urine pH biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032943 A deviation of urine pH from the normal range of 4.5 to 7.8. HP:0031618 Anterior chamber flare grade 1+ biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031618 Faint anterior chamber flare. HP:0032949 Renal interstitial calcium phosphate deposits biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032949 The presence of interstitial aggregates of purple finely granular/laminated calcium- and phosphate deposits. HP:0031619 Anterior chamber flare grade 2+ biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0031619 Moderate anterior chamber flare (iris and lens details clear). HP:0005327 Loss of facial expression biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005327 UMLS:C1852476 Loss of facial expression HP:0006659 Internally rotated shoulders biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006659 UMLS:C1862491 Internally rotated shoulders HP:0005328 Progeroid facial appearance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005328 UMLS:C1857710 Premature aged appearance|Prematurely aged face|Wizened face|Prematurely aged facial appearance|Aged facial appearance A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance. HP:0007989 Intraretinal exudate biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007989 UMLS:C4024758 Retinal exudate within the retinal tissue itself. HP:0005329 Fixed facial expression biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005329 UMLS:C1855353 Fixed facial expression|Unchanging facial expression HP:0005323 Hemifacial hypertrophy biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0005323 MSH:C563014|MSH:D005621|UMLS:C1399354|SNOMEDCT_US:10394003|UMLS:C0016719|SNOMEDCT_US:697962004 Facial hemihyperplasia|Hypertrophy of half of face|Enlargement of half of face|Overgrowth of half of face|Facial hemihypertophy|Hemifacial enlargement|Increase in size of half of face|Friedreich's disease Unilateral overgrowth of facial tissues, including muscles, bones and skin. HP:0007986 Increased retinal vascularity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007986 UMLS:C1847882 HP:0007985 Retinal arteriolar occlusion biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007985 UMLS:C4024761 Blocked retinal artery Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina. HP:0005324 Disturbance of facial expression biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005324 UMLS:C4025215 Disturbance of facial expression An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed. HP:0006655 Rib segmentation abnormalities biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006655 UMLS:C1968999 HP:0007988 Macular hypopigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007988 UMLS:C4024759 Decreased amount of pigmentation in the macula lutea. HP:0005325 Extension of hair growth on temples to lateral eyebrow biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005325 UMLS:C1857455 Unusual hairline with hair growth on temples extending to lateral eyebrow A pattern of hair growth in which there is hair extending from the temples to the lateral eyebrows. HP:0005326 Hypoplastic philtrum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005326 UMLS:C1856886 Small philtrum Underdevelopment of the philtrum. HP:0006657 Hypoplasia of first ribs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006657 UMLS:C1834386 Hypoplastic first rib|Underdeveloped first rib|Small first rib|Hypoplastic first ribs HP:0007987 Progressive visual field defects biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007987 UMLS:C4024760 HP:0006650 Thickening of the lateral border of the scapula biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006650 UMLS:C1834383 Thickening of the lateral border of the shoulder blade HP:0007982 obsolete Central tapetoretinal dystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007982 HP:0005320 Lack of facial subcutaneous fat biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005320 UMLS:C3277426 Lack of facial fat below the skin HP:0007981 obsolete Concentric narrowing of visual field biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007981 HP:0005321 Mandibulofacial dysostosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005321 SNOMEDCT_US:82203000|UMLS:C0242387|MSH:D008342 Treacher collins syndrome A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations. HP:0007984 Electronegative electroretinogram biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007984 UMLS:C4021561 Reduced ERG amplitude of b-wave|Electroretinogram: reduced b-wave amplitude|Reduced electroretinogram rod b-wave|Reduced amplitude of dark-adapted bright flash electroretinogram b-wave|Electronegative ERG A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave (source: Holder GE., Inherited Chorioretinal Dystrophies: A Textbook and Atlas; 2014; p.17; ISBN 978-3-540-69466-3). HP:0005322 Prominent nasal septum biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005322 UMLS:C4025216|UMLS:C4280489|UMLS:C4280490 Visible septum of nose|Low hanging nasal septum|Low hanging septum of nose|Prominent septum of nose|Prominent nasal septum|Visible nasal septum HP:0007980 Absent retinal pigment epithelium biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007980 UMLS:C1852548 HP:0005338 Sparse lateral eyebrow biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0005338 UMLS:C1857206 Sparse lateral eyebrows|Laterally sparse eyebrows|Lateral hypoplasia of eyebrows|Lateral thinning of eyebrows|Laterally sparse eyebrow|Limited hair on end of eyebrow Decreased density/number and/or decreased diameter of lateral eyebrow hairs. HP:0004006 Round radial epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004006 UMLS:C4025451 HP:0005339 Abnormality of complement system biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005339 UMLS:C4025213 An abnormality of the complement system. HP:0004005 Large radial epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004005 UMLS:C4025452 HP:0004004 Irregular radial epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004004 UMLS:C4025453 HP:0004003 Medially flattened radial epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004003 UMLS:C4025454 HP:0006665 Coat hanger sign of ribs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006665 UMLS:C4025010 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). HP:0005335 Sleepy facial expression biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005335 UMLS:C4025214 Sleepy facial expression|Somnolent facial expression HP:0004009 Medially sloping radial epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004009 UMLS:C4025448 HP:0004008 Sloping radial epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004008 UMLS:C4025449 HP:0005336 Forehead hyperpigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005336 UMLS:C1969673 Darkening of the forehead HP:0004007 Sclerotic radial epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004007 UMLS:C4025450 HP:0006668 Twelfth rib hypoplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006668 UMLS:C1859361 Underdeveloped twelfth rib|Small twelfth rib HP:0007993 Malformed lacrimal duct biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007993 UMLS:C4024757 Malformed tear ducts Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies. HP:0007992 Lattice retinal degeneration biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007992 SNOMEDCT_US:3577000|UMLS:C0154856 HP:0005332 Recurrent mandibular subluxations biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005332 UMLS:C1857011 Recurrent partial dislocations of the mandible. HP:0007994 Peripheral visual field loss biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007994 SNOMEDCT_US:420990001|UMLS:C2937228|UMLS:C0241688 Tunnel vision|Loss of peripheral vision|Kalnienk vision Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision. HP:0004002 Flattened radial epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004002 UMLS:C4025455 HP:0004001 Medially deficient radial epiphyses biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004001 UMLS:C4025456 HP:0004000 Cone-shaped distal radial epiphysis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0004000 UMLS:C4025457 Chevron-shaped distal radial epiphysis The distal epiphysis (rounded portion of bone at the far end of the radius distal to the growth plate) has an abnormal cone-shaped appearance. HP:0006660 Aplastic clavicle biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0006660 UMLS:C1857665 Absent collarbone|Aplastic clavicles|Absent clavicles Absence of the clavicles as a developmental defect. HP:0007990 Hypoplastic iris stroma biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007990 UMLS:C1860344 Underdeveloped iris stroma|Hypoplastic iris stoma|Iris stromal hypoplasia Underdevelopment of the stroma of iris. HP:0005309 obsolete Peripheral vascular insufficiency biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005309 HP:0005305 Cerebral venous thrombosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005305 UMLS:C0151945|SNOMEDCT_US:95455008 Cerebral vein thrombosis|Cerebral thrombosis|Blood clot in cerebral vein Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow. HP:0007968 Remnants of the hyaloid vascular system biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0007968 SNOMEDCT_US:44647001|UMLS:C0266568|SNOMEDCT_US:69927002|MSH:D054514|SNOMEDCT_US:314270008 Persistent posterior fetal fibrovascular sheath of the lens|Persistent hyperplastic primary vitreous|Persistent hyperplasia of primary vitreous|Congenital retinal septum|Persistent fetal vasculature|Persistent tunica vasculosa lentis|Persistent hypertrophic primary vitreous Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract. HP:0005306 Capillary hemangioma biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0005306 SNOMEDCT_US:195382003|SNOMEDCT_US:402867006|SNOMEDCT_US:56975005|SNOMEDCT_US:83343001|UMLS:C0206733|SNOMEDCT_US:254206003|MSH:D018324 Strawberry birthmark|Capillary hemangioma The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces. HP:0006637 Sternal punctate calcifications biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006637 UMLS:C1859121 HP:0006638 Midclavicular aplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006638 UMLS:C1844529 Missing middle part of collarbone Developmental defect resulting in congenital absence of the middle portion of the clavicle. HP:0005307 Postural hypotension with compensatory tachycardia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005307 UMLS:C1850438 HP:0005308 Pulmonary artery vasoconstriction biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005308 UMLS:C1867424 HP:0005301 Persistent left superior vena cava biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005301 SNOMEDCT_US:77978002|UMLS:C0265931 PLSVC A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress. HP:0007964 Degenerative vitreoretinopathy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007964 UMLS:C1843486 HP:0006633 Glenoid fossa hypoplasia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0006633 UMLS:C1834384 Hypoplastic glenoid fossa|Glenoid hypoplasia Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus. HP:0005302 Carotid artery tortuosity biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005302 SNOMEDCT_US:401051003|UMLS:C1303076 Tortuous carotid arteries Abnormal tortuous (i.e., twisted) form of the carotid arteries. HP:0007963 Pattern dystrophy of the retina biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007963 UMLS:C4024762 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). HP:0005303 Aortic arch calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005303 UMLS:C1969291 Calcification, that is, pathological deposition of calcium salts in the arch of aorta. HP:0006634 Osteosclerosis of ribs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006634 UMLS:C4025013 Increased bone density in ribs Osteosclerosis of ribs (increased density related to increased bone mass). HP:0007965 Undetectable visual evoked potentials biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007965 UMLS:C1850069 Undetectable VEP|Absence of visual evoked potentials|Non-detectable VEP HP:0005304 Hypoplastic pulmonary veins biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005304 UMLS:C1970501 Underdeveloped lung veins HP:0007962 Speckled corneal dystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007962 UMLS:C4021857 HP:0006631 Hypoplastic distal segments of scapulae biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006631 UMLS:C4025014 Small distal segments of the shoulder blade|Underdeveloped outermost segments of shoulder blade|Small outermost segments of shoulder blade HP:0005300 Nodular inflammatory vasculitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005300 UMLS:C4025219 HP:0007961 obsolete Rarefaction of retinal pigmentation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007961 HP:0006647 Congenital microthorax biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006647 UMLS:C4025011 HP:0007979 Gaze-evoked horizontal nystagmus biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007979 UMLS:C1853394 Nystagmus, horizontal gaze-evoked|Nystagmus, horizontal, gaze-evoked Horizontal nystagmus made apparent by looking to the right or to the left. HP:0032902 Focal perseverative automatism seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032902 A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset. HP:0005316 Peripheral pulmonary vessel aplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005316 UMLS:C1848877 HP:0032901 Focal pedal automatism seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032901 A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs. HP:0005317 Increased pulmonary vascular resistance biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005317 UMLS:C1867423 Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units. HP:0006649 Costochondral pain biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006649 UMLS:C4021587 Costochondral junction pain Chest wall pain in the area of the costochondral junctions. HP:0005318 Cerebral vasculitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005318 SNOMEDCT_US:427020007|MSH:D020293|UMLS:C0238051 Inflammation of the blood vessels within the brain. HP:0032904 Focal verbal automatism seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032904 A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset. HP:0032903 Focal vocal automatism seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032903 A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset. HP:0007975 Hypometric horizontal saccades biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007975 UMLS:C1856478 Saccadic undershoot of horizontal saccadic eye movements, i.e., a horizontal saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object. HP:0005312 Pulmonary aterial intimal fibrosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005312 UMLS:C4025217 Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation. HP:0006643 Fused sternal ossification centers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006643 UMLS:C1859376 Fused sternal ossification centres HP:0006644 Thoracic dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006644 UMLS:C1406921 HP:0005313 Arterial fibromuscular dysplasia biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005313 SNOMEDCT_US:359553002|SNOMEDCT_US:31653004|UMLS:C0016052|MSH:D005352 An arterial lesion that is characterized by either intimal fibroplasia, with neointimal lesions of cells and matrix deposition, or medial fibroplasia, in which there is loss of smooth muscle cells and increased deposition of collagen and proteoglycans in the medial layer. HP:0005314 Anomalous branches of internal carotid artery biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005314 UMLS:C1847886 HP:0032900 Focal manual automatism seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032900 A type of focal automatism seizure characterized by manual automatisms at onset. HP:0006645 Thin clavicles biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006645 SNOMEDCT_US:298764003|UMLS:C0575535 Thin collarbone Abnormally reduced diameter (cross section) of the clavicles. HP:0006646 Costal cartilage calcification biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006646 UMLS:C1855608 Cartilaginous ossification of rib Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax. HP:0007976 Cerulean cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007976 SNOMEDCT_US:204138006|MSH:C537955|UMLS:C0344523 Cataracts, congenital, cerulean Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary. HP:0005315 obsolete Peripheral artery occlusive disease biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005315 HP:0007971 Lamellar cataract biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007971 UMLS:C0266537|SNOMEDCT_US:204128001|SNOMEDCT_US:21590003 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. HP:0006640 Multiple rib fractures biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006640 SNOMEDCT_US:1261007|UMLS:C0272567 Multiple rib fractures More than one fracture of the ribs. HP:0007970 Congenital ptosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007970 SNOMEDCT_US:61989004|UMLS:C0266573|SNOMEDCT_US:268163008 Congenital drooping upper eyelid HP:0032909 Focal impaired awareness automatism seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032909 A focal seizure with automatism in which awareness is partially or fully impaired at some point during the seizure. HP:0006641 Prominent floating ribs biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006641 UMLS:C4025012 Prominent floating ribs HP:0007973 Retinal dysplasia biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0007973 SNOMEDCT_US:95494009|MSH:D015792|UMLS:C0035313 Retinal dysgenesis The presence of developmental dysplasia of the retina. HP:0005310 Large vessel vasculitis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005310 UMLS:C4025218 A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta. HP:0006642 Large sternal ossification centers biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0006642 UMLS:C1865241 Large sternal ossification centres HP:0005311 Agenesis of pulmonary vessels biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0005311 UMLS:C1970630 Absent lung vessels A developmental defect characterized by the lack of formation of the pulmonary blood vessels. HP:0032906 Focal head nodding automatism seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032906 A type of focal automatism seizure characterized by involuntary head nodding at onset. HP:0032905 Focal sexual automatism seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032905 A type of focal automatism seizure characterized by involuntary sexual behavior at onset. HP:0032908 Focal aware undressing automatism seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032908 A type of focal automatism seizure characterized by involuntary undressing at onset and during which awareness is fully retained throughout. HP:0032907 Focal undressing automatism seizure biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0032907 A type of focal automatism seizure characterized by involuntary undressing at onset. HP:0007906 Ocular hypertension biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007906 SNOMEDCT_US:112222000|UMLS:C0234708 Raised IOP|High eye pressure|Raised intraocular pressure|Increased IOP|Elevated IOP|Elevated intraocular pressure|Increased intraocular pressure Intraocular pressure that is 2 standard deviations above the population mean. HP:0007905 Abnormal iris vasculature biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007905 UMLS:C3275963 Abnormality of iris blood vessels HP:0007902 Vitreous hemorrhage biolink:PhenotypicFeature hp hposlim_core http://purl.obolibrary.org/obo/HP_0007902 UMLS:C0042909|SNOMEDCT_US:31341008|MSH:D014823 Vitreous haemorrhage Bleeding within the vitreous compartment of the eye. HP:0007901 obsolete Retinal malformation biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007901 HP:0007903 Paravenous chorioretinal atrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007903 UMLS:C4072868 Chorioretinal atrophy along the retinal veins. HP:0007900 Hypoplastic lacrimal duct biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007900 UMLS:C1968574 Underdeveloped tear duct HP:0007917 Tractional retinal detachment biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007917 UMLS:C1866178 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. HP:0007916 obsolete Small anterior lens surface opacities biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007916 HP:0007913 Reticular retinal dystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007913 UMLS:C4024776 A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation. HP:0007915 Polymorphous posterior corneal dystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007915 UMLS:C0339284|SNOMEDCT_US:29504002|MSH:C562745 This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma. HP:0007911 Congenital bilateral ptosis biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007911 UMLS:C1836264 Ptosis, congenital bilateral|Ptosis, bilateral congenital|Congenital drooping of both upper eyelids HP:0007910 obsolete Nonprogressive congenital retinal dystrophy biolink:PhenotypicFeature hp http://purl.obolibrary.org/obo/HP_0007910