| 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:0000232 | Everted lower lip | |
Show
|
| HP:0000248 | Brachycephaly | "Brachycephaly refers to a short, wide head, which is often caused by premature closure of both coronal sutures." [HPO:curators] |
Show
|
| HP:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
Show
|
| HP:0000260 | Wide anterior fontanel | "Enlargement of the anterior fontanelle with respect to age-dependent norms." [HPO:curators] |
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:0000294 | Low frontal hairline | "A condition in which the scalp hair is present at lower than usual areas of the forehead." [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:0000327 | Hypoplasia of the maxilla | "Underdevelopment of the `Maxilla` (FMA:9711)." [HPO:probinson] |
Show
|
| HP:0000337 | Broad forehead | "Abnormally large side-to-side distance of the forehead." [HPO:curators] |
Show
|
| HP:0000368 | Low-set, posteriorly rotated ears | |
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:0000405 | Hearing loss, conductive | |
Show
|
| HP:0000483 | Astigmatism | |
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:0000504 | Abnormality of vision | "Abnormality of eyesight (visual perception)." [HPO:curators] |
Show
|
| HP:0000540 | Hypermetropia | |
Show
|
| HP:0000568 | Microphthalmos | "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators] |
Show
|
| HP:0000574 | Thick eyebrows | |
Show
|
| HP:0000636 | Upper eyelid coloboma | "A `coloboma` (HP:0000589) of the `upper eyelid` (FMA:54439)." [HPO:probinson] |
Show
|
| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
Show
|
| HP:0000647 | Sclerocornea | |
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:0000998 | Hypertrichosis | "Hypertrichosis is increased hair growth that is abnormal in quantity or location." [HPO:curators] |
Show
|
| HP:0001159 | Syndactyly | "Webbing or fusion of the fingers or 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 fingers or toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
Show
|
| HP:0001163 | Abnormality of the metacarpal bones | |
Show
|
| HP:0001256 | Mental retardation, mild | "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators] |
Show
|
| HP:0001508 | Failure to thrive | |
Show
|
| HP:0001511 | Intrauterine 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:0001582 | Loose, redundant skin | |
Show
|
| HP:0001597 | Abnormality of the nails | "Abnormality of the fingernails or toenails." [HPO:curators] |
Show
|
| HP:0001627 | Cardiac abnormality | "An abnormality of the `heart` (FMA:7088)." [HPO:probinson] |
Show
|
| HP:0001643 | Patent ductus arteriosus | |
Show
|
| HP:0001760 | Abnormality of the feet | "An abnormality of the feet (foot deformity) is a disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, Congenital vertical talus (rocker bottom foot) & etc." [HPO:curators] |
Show
|
| HP:0001792 | Nail hypoplasia | "Underdeveloped `fingernails` (FMA:54327) or `toenails` (FMA:54328)." [HPO:probinson] |
Show
|
| HP:0002208 | Coarse hair | |
Show
|
| HP:0002230 | Generalized hirsutism | "Abnormally increased hair growth over much of the entire body." [HPO:curators] |
Show
|
| HP:0002299 | Fine, brittle hair | |
Show
|
| HP:0002705 | High, narrow palate | "The presence of a high and narrow palate." [HPO:curators] |
Show
|
| HP:0003577 | Onset at birth | |
Show
|
| HP:0003758 | Reduced subcutaneous adipose tissue | "The presence of an abnormally reduced amount of subcutaneous adipose tissue." [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:0004331 | Decreased skull ossification | "A reduction in the magnitude or amount of ossification of the skull." [HPO:curators] |
Show
|
| HP:0004440 | Coronal craniosynostosis | |
Show
|
| HP:0004942 | Aortic aneurysms | |
Show
|
| HP:0005247 | Abdominal muscular hypoplasia | |
Show
|
| HP:0007477 | Abnormal dermatoglyphics | "An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles." [HPO:curators] |
Show
|
| HP:0007495 | Prematurely aged appearance | |
Show
|
| HP:0007740 | Long eyelashes in irregular rows | |
Show
|
| HP:0008038 | Aplastic/hypoplastic lacrimal glands | |
Show
|
| HP:0008070 | Sparse hair | |
Show
|
| HP:0008497 | Congenital craniofacial dysostosis | |
Show
|
| HP:0009721 | Shagreen patch | "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-coloured or occasionally pigmented, smooth or crinkled, The word shagreen refers to a type of roughened untanned leather." [HPO:curators] |
Show
|
| HP:0009804 | Reduced number of teeth | |
Show
|
| HP:0009882 | Hypoplasia of the distal phalanges of the hand | |
Show
|
| HP:0009891 | Hypoplasia of the supraorbital ridges | "Underdevelopment of the supraorbital ridges." [HPO:curators] |
Show
|
| HP:0010648 | Dermal translucency | "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." [HPO:curator] |
Show
|
| HP:0010808 | Protruding tongue | "Tongue extending beyond the alveolar ridges or teeth at rest." [pmid:19125428] |
Show
|
| HP:0010940 | Aplasia/Hypoplasia of the nasal bone | "Absence or underdevelopment of the `nasal bone` (FMA:52745)." [HPO:probinson] |
Show
|
| HP:0011800 | Midface retrusion | "Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle." [DDD:jclayton-smith] |
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
|
| HP:0100578 | Lipoatrophy | "Localized loss of fat tissue." [HPO:sdoelken] |
Show
|
| HP:0100678 | Wrinkled skin | |
Show
|
