| 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: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] |
Show
|
| HP:0000032 | Abnormality of male external genitalia | |
Show
|
| HP:0000049 | Shawl scrotum | "A condition in which the upper scrotal skin rises over the base of the penis." [HPO:curators] |
Show
|
| HP:0000055 | Abnormality of female external genitalia | |
Show
|
| HP:0000062 | Ambiguous genitalia | |
Show
|
| HP:0000153 | Abnormality of the mouth | "An abnormality of the `mouth` (FMA:49184)." [HPO:probinson] |
Show
|
| HP:0000154 | Wide mouth | "Abnormally wide mouth." [HPO:curators] |
Show
|
| HP:0000188 | Short upper lip | |
Show
|
| HP:0000233 | Thin vermillion border | |
Show
|
| 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] |
Show
|
| HP:0000303 | Mandibular prognathia | "Abnormal prominence of the chin related to an abnormally long mandible." [HPO:curators] |
Show
|
| HP:0000316 | Hypertelorism | |
Show
|
| HP:0000322 | Short philtrum | |
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:0000365 | Hearing loss | |
Show
|
| 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] |
Show
|
| HP:0000377 | Abnormal form of ears | "Abnormal form of the out part of the ear (also referred to as the auricle or pinna)." [HPO:curators] |
Show
|
| HP:0000413 | External auditory canal atresia | "Absence or failure to form of the external auditory canal." [HPO:curators] |
Show
|
| HP:0000414 | Bulbous nose | |
Show
|
| HP:0000430 | Hypoplastic nasal alae | "Thinned, deficient, or excessively arched `ala nasi` (FMA:59519)." [pmid:19152422] |
Show
|
| HP:0000431 | Broad nasal bridge | "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators] |
Show
|
| HP:0000457 | Flat nose | |
Show
|
| HP:0000463 | Nares, anteverted | "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422] |
Show
|
| HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
Show
|
| HP:0000494 | Downward slanting palpebral fissures | |
Show
|
| HP:0000505 | Impaired vision | |
Show
|
| HP:0000506 | Telecanthus | "An abnormally increased distance between the medial canthi (angle between eyelids) of the eyelids." [HPO:curators] |
Show
|
| HP:0000535 | Sparse eyebrows | |
Show
|
| HP:0000545 | Myopia | |
Show
|
| HP:0000561 | Absent eyelashes | "Lack of eyelashes." [HPO:curators] |
Show
|
| HP:0000629 | Periorbital fullness | |
Show
|
| HP:0000632 | Lacrimation abnormality | |
Show
|
| HP:0000656 | Ectropion | "An abnormal turning outward of the lower eyelid." [HPO:sdoelken] |
Show
|
| HP:0000684 | Delayed dentition | "Delayed eruption of teeth." [HPO:curators] |
Show
|
| HP:0000691 | Microdontia | |
Show
|
| HP:0000750 | Impaired language development | |
Show
|
| HP:0000958 | Dry skin | |
Show
|
| HP:0000963 | Thin skin | |
Show
|
| HP:0000968 | Ectodermal dysplasia | |
Show
|
| HP:0000974 | Hyperextensible skin | |
Show
|
| HP:0000998 | Hypertrichosis | "Hypertrichosis is increased hair growth that is abnormal in quantity or location." [HPO:curators] |
Show
|
| HP:0001000 | Abnormality of skin pigmentation | |
Show
|
| HP:0001053 | Hypopigmented skin patches | |
Show
|
| HP:0001126 | Cryptophthalmos | "Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity." [HPO:curators] |
Show
|
| HP:0001249 | Mental retardation | |
Show
|
| HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
Show
|
| HP:0001508 | Failure to thrive | |
Show
|
| HP:0001510 | Growth retardation | |
Show
|
| HP:0001537 | Umbilical hernia | "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:curators] |
Show
|
| HP:0001539 | Omphalocele | |
Show
|
| HP:0001582 | Loose, redundant skin | |
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:0002023 | Anal atresia | "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators] |
Show
|
| HP:0002213 | Fine hair | |
Show
|
| HP:0002223 | Absent eyebrows | |
Show
|
| HP:0002230 | Generalized hirsutism | "Abnormally increased hair growth over much of the entire body." [HPO:curators] |
Show
|
| HP:0002553 | Arched eyebrows | |
Show
|
| HP:0002557 | Hypoplastic nipples | |
Show
|
| HP:0002705 | High, narrow palate | "The presence of a high and narrow palate." [HPO:curators] |
Show
|
| HP:0002714 | Downturned corners of mouth | "A morphological `abnormality of the mouth` (HP:0000153) in which the `angle of the mouth` (FMA:77269) is downturned." [HPO:probinson] |
Show
|
| HP:0002933 | Ventral hernia | "Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abnominal wall." [HPO:curators] |
Show
|
| HP:0003187 | Breast hypoplasia | |
Show
|
| HP:0004334 | Dermal atrophy | "Partial or complete wasting (atrophy) of the skin." [HPO:curators] |
Show
|
| HP:0005105 | Abnormal nasal morphology | |
Show
|
| HP:0005280 | Depressed nasal root and bridge | |
Show
|
| HP:0005338 | Sparse lateral eyebrows | |
Show
|
| HP:0006709 | Aplasia/Hypoplasia of the nipples | |
Show
|
| HP:0007392 | Excessive wrinkled skin | |
Show
|
| HP:0007495 | Prematurely aged appearance | |
Show
|
| HP:0007565 | Multiple cafe-au-lait spots | |
Show
|
| HP:0007776 | Partial absence of lower eyelashes | |
Show
|
| HP:0007957 | Variable degree of corneal opacities | |
Show
|
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
Show
|
| HP:0008070 | Sparse hair | |
Show
|
| HP:0008496 | Multiple rows of eyelashes | |
Show
|
| HP:0008509 | Aged leonine appearance | |
Show
|
| HP:0008551 | Underdeveloped ears | |
Show
|
| HP:0008736 | Hypoplasia of penis | |
Show
|
| HP:0009743 | Distichiasis | "Distichiasis refers to ouble rows of eyelashes." [HPO:curators] |
Show
|
| HP:0010049 | Hypoplastic/short metacarpal bones | |
Show
|
| HP:0010669 | Hypoplasia of the zygomatic bone | "Underdevelopment of the `zygomatic bone` (FMA:52747)." [HPO:probinson] |
Show
|
| HP:0010720 | Abnormal hair growth pattern | "An abnormality of the distribution of hair growth." [HPO:probinson] |
Show
|
| HP:0010751 | Chin dimple | "A persistent midline depression of the skin over the fat pad of the chin." [pmid:19125436] |
Show
|
| HP:0010935 | Abnormality of the upper urinary tract | "An abnormality of the `upper urinary tract` (FMA:45658)." [HPO:probinson] |
Show
|
| HP:0011224 | Ablepharon | "Absent `eyelids` (FMA:75178)." [pmid:19125427] |
Show
|
| HP:0011267 | Microtia, third degree | "Presence of some auricular structures, but none of these structures conform to recognized ear components." [pmid:19152421] |
Show
|
| HP:0100490 | Camptodactyly (hands) | "Contractures of one ore more joints of the fingers." [HPO:sdoelken] |
Show
|
| HP:0100781 | Abnormality of the sacroiliac joint | |
Show
|
| HP:0100783 | Breast aplasia | |
Show
|
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | "Absence or underdevelopment of the eyebrow." [HPO:probinson] |
Show
|
| HP:0200020 | Corneal erosions | "Erosions or Abbrasions of the cornea s outermost layer of epithelial cells." [HPO:sdoelken] |
Show
|
| HP:0200102 | Sparse/absent eyelashes | |
Show
|
