| 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:0000033 | Ambiguous genitalia, male | |
Show
|
| HP:0000061 | Ambiguous genitalia, female | |
Show
|
| HP:0000126 | Hydronephrosis | |
Show
|
| HP:0000171 | Microglossia | |
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:0000238 | Hydrocephalus | |
Show
|
| HP:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
Show
|
| HP:0000316 | Hypertelorism | |
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:0000402 | Stenotic external auditory canal | "An abnormal narrowing of the external auditory canal." [HPO:curators] |
Show
|
| HP:0000470 | Short neck | |
Show
|
| HP:0000482 | Microcornea | "A congenital abnormality of the `cornea` (FMA:58238) 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." [HPO:probinson] |
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:0000490 | Deep set eyes | |
Show
|
| HP:0000568 | Microphthalmos | "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators] |
Show
|
| HP:0000581 | Blepharophimosis | "Reduced width of the palpebral fissures." [HPO:sdoelken] |
Show
|
| HP:0000882 | Hypoplastic scapulae | |
Show
|
| HP:0000890 | Long clavicles | |
Show
|
| HP:0000946 | Hypoplastic ilia | |
Show
|
| HP:0001156 | Brachydactyly | |
Show
|
| HP:0001239 | Wrist contractures | |
Show
|
| HP:0001374 | Congenital hip dislocation | |
Show
|
| HP:0001591 | Bell-shaped chest | |
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:0001999 | Facial dysmorphism | |
Show
|
| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
Show
|
| HP:0002162 | Low posterior hairline | |
Show
|
| HP:0002324 | Hydranencephaly | |
Show
|
| HP:0002693 | Abnormality of the skull base | "An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components." [HPO:curators] |
Show
|
| HP:0002866 | Hypoplastic iliac wings | |
Show
|
| HP:0002987 | Elbow contractures | |
Show
|
| HP:0002990 | Fibular aplasia | "Absence of the fibula." [HPO:curators] |
Show
|
| HP:0003027 | Mesomelia | "Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments." [HPO:sdoelken] |
Show
|
| HP:0003041 | Radiohumeral synostosis | "An abnormal osseous union (fusion) between the radius and the humerus." [HPO:curators] |
Show
|
| HP:0003083 | Dislocated radial head | "A dislocation of the head of the radius from its socket in the elbow joint." [HPO:curators] |
Show
|
| HP:0003097 | Short femur | "An abnormal shortening of the thigh bones." [HPO:curators] |
Show
|
| HP:0003173 | Hypoplastic pubic bones | |
Show
|
| HP:0003175 | Hypoplastic ischia | |
Show
|
| HP:0003943 | Abnormality of the joint spaces of the elbow | |
Show
|
| HP:0004209 | Clinodactyly of the 5th finger | "Clinodactyly refers to a bending or curvature of the `fifth finger` (FMA:24949) in the radial direction (i.e., towards the 4th finger)." [HPO:curators] |
Show
|
| 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] |
Show
|
| HP:0004691 | 2-3 toe syndactyly | "`Syndactyly` (HP:0001159) with fusion of toes two and three." [HPO:sdoelken] |
Show
|
| HP:0004692 | 4-5 toe syndactyly | "`Syndactyly` (HP:0001159) with fusion of toes four and five." [HPO:sdoelken] |
Show
|
| HP:0004987 | Mesomelia of the lower limbs | "Shortening of the middle parts of the leg in relation to the upper and terminal segments." [HPO:sdoelken] |
Show
|
| HP:0005989 | Redundant neck skin | |
Show
|
| HP:0006077 | Absent proximal finger flexion creases | |
Show
|
| HP:0008472 | Prominent protruding coccyx | |
Show
|
| HP:0008488 | Anterior rounding of vertebral bodies | |
Show
|
| HP:0008905 | Rhizomelic short stature | |
Show
|
| HP:0009085 | Alveolar ridge overgrowth | "Increased width of the alveolar ridges ." [pmid:19125428] |
Show
|
| HP:0009473 | Joint contractures involving the joints of the hand | |
Show
|
| HP:0009937 | Facial hirsutism | "Excess facial hair." [HPO:curators] |
Show
|
| HP:0011266 | Microtia, first degree | "Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean." [pmid:19152421] |
Show
|
| HP:0012385 | Camptodactyly | "The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension." [HPO:probinson] |
Show
|
| HP:0012745 | Short palpebral fissure | "Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures." [pmid:19125427] |
Show
|
