| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000028 | Cryptorchidism | "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 testis." [HPO:curators] |
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| HP:0000046 | Scrotal hypoplasia | |
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| HP:0000047 | Hypospadias | "Displacement of the urethral opening on the ventral (inferior) surface of the penis." [HPO:curators] |
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| HP:0000141 | Amenorrhea | |
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| HP:0000151 | Absent uterus | |
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| HP:0000175 | Cleft palate | "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators] |
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| HP:0000189 | Narrow palate | "Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective)." [pmid:19125428] |
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| HP:0000218 | High palate | "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428] |
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| HP:0000276 | Long face | |
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| HP:0000286 | Epicanthus | "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators] |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000369 | Low-set ears | "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators] |
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| HP:0000411 | Protruding ears | |
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| HP:0000431 | Broad nasal bridge | "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators] |
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| HP:0000470 | Short neck | |
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| HP:0000475 | Broad neck | |
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| HP:0000768 | Pectus carinatum | "A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum." [HPO:curators] |
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| HP:0000884 | Prominent sternum | |
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| HP:0000885 | Broad ribs | |
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| HP:0000916 | Broad clavicles | "Increased breadth of the clavicles." [HPO:curators] |
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| HP:0001162 | Postaxial polydactyly (hands) | "Supernumerary digits located at the ulnar side of the hand." [HPO:curators] |
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| HP:0001171 | Ectrodactyly (hands) | |
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| HP:0001180 | Oligodactyly (hands) | "A developmental defect resulting in the presence of fewer than the normal number of fingers." [HPO:curators] |
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| HP:0001362 | Skull defect | "A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year." [HPO:curators] |
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| HP:0001374 | Congenital hip dislocation | |
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| HP:0001511 | Intrauterine growth retardation | |
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| HP:0001552 | Barrel-shaped chest | |
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| HP:0001762 | Talipes equinovarus | "Also called clubfoot typically has 4 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. Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus." [HPO:curators] |
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| HP:0001770 | Toe syndactyly | "Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered 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 refered to as "Symphalangism"." [HPO:curators] |
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| HP:0001773 | Short, broad feet | "Abnormally short and wide feet." [HPO:curators] |
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| HP:0001789 | Hydrops fetalis | |
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| HP:0001798 | Anonychia | "Total absence of nails." [HPO:curators] |
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| HP:0001802 | Absent toenails | |
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| HP:0001849 | Oligodactyly (feet) | "A developmental defect resulting in the presence of fewer than the normal number of toes." [HPO:curators] |
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| HP:0001883 | Talipes | |
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| HP:0001964 | Aplasia/Hypoplasia of metatarsal bones | "Absence or underdevelopment of the metatarsal bones." [HPO:curators] |
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| HP:0002023 | Anal atresia | "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators] |
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| HP:0002164 | Nail dysplasia | |
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| HP:0002435 | Meningocele | |
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| HP:0002436 | Occipital meningocele | |
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| HP:0002557 | Hypoplastic nipples | |
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| HP:0002575 | Tracheoesophageal fistula | "An abnormal connection (fistula) between the esophagus and the trachea." [HPO:curators] |
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| HP:0002705 | High, narrow palate | "The presence of a high and narrow palate." [HPO:curators] |
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| HP:0002827 | Dislocated hips | |
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| HP:0002866 | Hypoplastic iliac wings | |
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| HP:0002937 | Hemivertebrae | |
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| HP:0002980 | Femoral bowing | "Bowing (abnormal curvature) of the femur." [HPO:curators] |
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| HP:0002983 | Micromelia | |
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| HP:0002984 | Hypoplasia of the radius | "Underdevelopment of the radius." [HPO:curators] |
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| HP:0002986 | Radial bowing | |
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| HP:0002987 | Elbow contractures | |
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| HP:0002990 | Fibular aplasia | "Absence of the fibula." [HPO:curators] |
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| HP:0002992 | Abnormality of the tibia | "Abnormality of the tibia (shinbone)." [HPO:curators] |
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| HP:0003041 | Radiohumeral synostosis | "An abnormal osseous union (fusion) between the radius and the humerus." [HPO:curators] |
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| HP:0003070 | Elbow ankylosis | |
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| HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
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| HP:0003252 | Anteriorly displaced genitalia | |
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| HP:0003498 | Short stature, disproportionate | |
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| HP:0003982 | Absent ossification/absent ulna | |
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| HP:0004231 | Absent carpal bones/absent ossification of the carpal bones | |
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| HP:0004322 | 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)." [HPO:curators] |
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| HP:0005474 | Poorly ossified calvaria | "Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone)." [HPO:curators] |
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| HP:0005613 | Aplasia/hypoplasia of the femur | "Absence or underdevelopment of the femur." [HPO:curators] |
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| HP:0005914 | Aplasia/Hypoplasia involving the metacarpal bones | "Aplasia or Hypoplasia affecting the metacarpal bones." [HPO:curators] |
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| HP:0006101 | Finger syndactyly | "Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered 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 refered to as "Symphalangism"." [HPO:curators] |
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| HP:0006143 | Abnormal finger flexion creases | |
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| HP:0006262 | Aplasia/Hypoplasia of the 5th finger | "A small/hypoplastic or absent/aplastic 5th finger." [HPO:curators] |
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| HP:0006443 | Patellar aplasia | "Absence of the patella." [HPO:curators] |
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| HP:0006492 | Aplasia/Hypoplasia of the fibula | "Absence or underdevelopment of the fibula." [HPO:curators] |
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| HP:0006495 | Aplasia/Hypoplasia of the ulna | "Absence or underdevelopment of the ulna." [HPO:curators] |
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| HP:0006502 | Aplasia/Hypoplasia involving the carpal bones | "Absence or underdevelopment of the carpal bones." [HPO:curators] |
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| HP:0006585 | Thin, dysplastic bipartite clavicles | |
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| HP:0008363 | Aplasia/Hypoplasia of the tarsal bones | "Absence or underdevelopment of the tarsal bones." [HPO:curators] |
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| HP:0008517 | Aplasia/Hypoplasia of the sacrum | |
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| HP:0008736 | Hypoplasia of penis | |
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| HP:0008817 | Aplastic pubic bones | |
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| HP:0008839 | Hypoplastic pelvis | |
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| HP:0009103 | Aplasia/Hypoplasia involving the pelvis | |
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| HP:0009104 | Aplasia/Hypoplasia of the pubic bone | |
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| HP:0009465 | Ulnar deviation of fingers | |
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| HP:0009767 | Aplasia/Hypoplasia of the phalanges of the hand | "Small or missing phalangeal bones of the fingers of the hand." [HPO:curators] |
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| HP:0009829 | Phocomelia | "Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia)." [HPO:curators] |
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| HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes | |
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| HP:0010769 | Pilonidal sinus | |
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| HP:0030084 | Clinodactyly | "An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe)." [pmid:16252026] |
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| HP:0100257 | Ectrodactyly | "A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet." [HPO:sdoelken] |
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| HP:0400004 | Long ear | "Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear." [eom:2028381d5c61842a, pmid:19152421] |
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