| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
Show
|
| HP:0000013 | Hypoplastic uterus | |
Show
|
| 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] |
Show
|
| HP:0000046 | Scrotal hypoplasia | |
Show
|
| HP:0000048 | Bifid scrotum | "Separation of the two halves of the scrotum, whereby commonly the 2 halves of the scrotum meet above the penis." [HPO:curators] |
Show
|
| HP:0000059 | Hypoplastic labia majora | |
Show
|
| HP:0000062 | Ambiguous genitalia | |
Show
|
| 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] |
Show
|
| HP:0000193 | Bifid uvula | "A split or cleft uvula." [HPO:curators] |
Show
|
| HP:0000196 | Lower lip pit | "Depression located on the vermilion of the lower lip, usually paramedian." [pmid:19125428] |
Show
|
| HP:0000204 | Cleft lip | "A gap in the `upper lip` (FMA:59817). This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development." [HPO:probinson] |
Show
|
| HP:0000219 | Thin upper lip | |
Show
|
| HP:0000327 | Hypoplasia of the maxilla | "Underdevelopment of the `Maxilla` (FMA:9711)." [HPO:probinson] |
Show
|
| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
Show
|
| HP:0000453 | Choanal atresia | "Absence or abnormal closure of the choana (the posterior nasal aperture)." [HPO:curators] |
Show
|
| HP:0000668 | Hypodontia | "Hypodontia describes a situation when there are fewer than the normal number of teeth, whereby 6 teeth or fewer teeth are missing (oligodontia refers to the condition of missing more than 6 teeth and the congenital absence of all teeth is called anodontia)." [HPO:curators] |
Show
|
| HP:0000677 | Oligodontia | "The condition of missing over 6 teeth (Missing up to 6 teeth is referred to a hypodontia)." [HPO:curators] |
Show
|
| HP:0000691 | Microdontia | |
Show
|
| HP:0000726 | Dementia | |
Show
|
| HP:0000772 | Abnormality of the ribs | |
Show
|
| HP:0001171 | Ectrodactyly (hands) | |
Show
|
| HP:0001328 | Learning disability | |
Show
|
| HP:0001387 | Joint stiffness | "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [HPO:curators] |
Show
|
| HP:0001597 | Abnormality of the nails | "Abnormality of the fingernails or toenails." [HPO:curators] |
Show
|
| 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] |
Show
|
| 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] |
Show
|
| HP:0002230 | Generalized hirsutism | "Abnormally increased hair growth over much of the entire body." [HPO:curators] |
Show
|
| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
Show
|
| HP:0003298 | Spina bifida occulta | "The closed form of spina bifida." [HPO:curators] |
Show
|
| 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] |
Show
|
| HP:0008288 | Nonketotic hyperglycinemia | |
Show
|
| HP:0008726 | Hypoplastic vagina | "Underdevelopment of the vagina." [HPO:curators] |
Show
|
| HP:0009754 | Syngnathia | "Syngnathia is a congenital adhesion of the maxilla and mandible by fibrous bands." [HPO:curators] |
Show
|
| HP:0009755 | Ankyloblepharon | "Adhesion of the ciliary edges of the eyelids to each other." [HPO:curators] |
Show
|
| HP:0009756 | Popliteal pterygium | "A pterygium (or pterygia) occuring in the popliteal region (the back of the knee)." [HPO:curators] |
Show
|
| HP:0009757 | Intercrural pterygium | "A pterygium (or pterygia) in the intercrural (groin) region." [HPO:curators] |
Show
|
| HP:0009758 | Pyramidal skinfold extending from the base to the top of the nails | "Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome." [HPO:curators] |
Show
|
| HP:0010286 | Abnormality of the salivary glands | "Any abnormality of the salivary glands, the exocrine glands that produce saliva." [HPO:curators] |
Show
|
| HP:0010554 | Cutaneous syndactyly of the fingers | "Webbing or fusion of the fingers involving soft parts only." [HPO:curators] |
Show
|
| HP:0100267 | Lip pits | |
Show
|
| HP:0100335 | Non-midline cleft lip | |
Show
|
