| 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] |
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| HP:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
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| HP:0000272 | Malar hypoplasia | "Underdeveloped midface region." [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:0000445 | Broad nose | |
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| 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] |
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| HP:0000470 | Short neck | |
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| HP:0000926 | Platyspondyly | |
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| HP:0000977 | Soft skin | |
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| HP:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
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| 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] |
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| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001374 | Congenital hip dislocation | |
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| HP:0001388 | Joint laxity | |
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| HP:0001498 | Carpal bone hypoplasia | |
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| HP:0001602 | Laryngeal stenosis | |
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| HP:0001763 | Pes planus | "A condition in which the arch of the foot is flat, with the entire sole of the foot being in near-complete contact with the ground." [HPO:curators] |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002164 | Nail dysplasia | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002651 | Spondyloepimetaphyseal dysplasia | |
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| HP:0002652 | Skeletal dysplasia | |
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| HP:0002758 | Osteoarthritis | |
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| HP:0002808 | Kyphosis | |
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| HP:0002827 | Dislocated hips | |
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| HP:0002857 | Genu valgum | |
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| HP:0002970 | Genu varum | |
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| HP:0002983 | Micromelia | |
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| HP:0003015 | Metaphyseal flaring | "The presence of splayed (i.e.,flared) metaphyseal segments of the long bones." [HPO:curators] |
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| HP:0003025 | Irregular metaphyses | |
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| HP:0003045 | Abnormality of the patella | "Abnormality of the patella (knee cap)." [HPO:curators] |
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| HP:0003083 | Dislocated radial head | "A dislocation of the head of the radius from its socket in the elbow joint." [HPO:curators] |
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| HP:0003090 | Small capital femoral epiphyses | |
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| HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
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| HP:0003301 | Irregular vertebral endplates | "An irregular surface of the vertebral end plates, which are normally relatively smooth." [HPO:curators] |
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| HP:0003370 | Flat capital femoral epiphyses | |
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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:0005008 | Large joint dislocations | |
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| HP:0005092 | irregular, flared metaphyses with streaky sclerosis | |
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| HP:0005107 | Abnormality of the sacrum | |
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| HP:0005121 | Posterior scalloping of vertebral bodies | "The posterior vertebral scalloping sign appears on a lateral radiograph of the spine as an exaggeration of the normal concavity of the posterior surface of one or more vertebral bodies." [HPO:curators] |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0005692 | Joint hyperflexibility | |
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| HP:0006016 | Severe delay in phalangeal epiphyseal bone maturation | |
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| HP:0006127 | Long, slender middle and proximal phalanges | |
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| HP:0006236 | Long, slender metacarpals | |
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| HP:0006454 | Severely delayed patellae ossification | |
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| HP:0008457 | Caudal narrowing of interpedicular distances | |
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| HP:0008755 | Laryngotracheomalacia | |
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| HP:0008819 | Narrow, short femoral neck | "An abnormally short and narrow femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)." [HPO:curators] |
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| HP:0009164 | Abnormal calcification of the carpal bones | |
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| HP:0009836 | Broad distal phalanges of the hand | "Abnormally wide (broad) distal phalanges of the fingers." [HPO:curators] |
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| HP:0010301 | Spinal dysraphism | "A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life." [HPO:curators] |
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| HP:0010582 | Irregular epiphyses | |
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| HP:0010585 | Small epiphyses | |
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| 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] |
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| HP:0012296 | Slender distal phalanx of finger | "Reduced diameter of the `distal phalanx of finger` (FMA:75818)." [HPO:probinson] |
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| HP:0012297 | Slender proximal phalanx of finger | "Reduced diameter of the `proximal phalanx of finger` (FMA:75816)." [HPO:probinson] |
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| HP:0012299 | Long distal phalanx of finger | "Increased length of the `distal phalanx of finger` (FMA:75818)." [HPO:probinson] |
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| HP:0100625 | Enlarged thorax | |
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