| 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: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] |
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| HP:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
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| HP:0000767 | Pectus excavatum | "A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance." [HPO:curators] |
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| HP:0000768 | Pectus carinatum | "A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum." [HPO:curators] |
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| HP:0000773 | Short ribs | |
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| HP:0000774 | Narrow chest | |
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| HP:0000887 | Cupped ribs | |
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| HP:0001032 | Aplasia of the distal interphalangeal creases | "Absence of the distal interphalangeal flexion creases of the fingers." [HPO:curators] |
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| HP:0001156 | Brachydactyly | |
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| HP:0001169 | Broad hands | |
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| HP:0001204 | Distal symphalangism | "The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases." [HPO:curators] |
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| HP:0001216 | Delayed maturation/delayed ossification of carpal bones | |
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| HP:0001230 | Broad metacarpals | |
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| HP:0001425 | Heterogeneous | |
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| 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] |
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| HP:0001773 | Short, broad feet | "Abnormally short and wide feet." [HPO:curators] |
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| HP:0001792 | Nail hypoplasia | "Underdeveloped `fingernails` (FMA:54327) or `toenails` (FMA:54328)." [HPO:probinson] |
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| HP:0001821 | Broad nails | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002652 | Skeletal dysplasia | |
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| HP:0002750 | Delayed skeletal maturation | "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
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| HP:0002812 | Coxa vara | |
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| HP:0002866 | Hypoplastic iliac wings | |
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| HP:0002869 | Flared iliac wings | |
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| HP:0002938 | Lumbar hyperlordosis | |
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| HP:0002970 | Genu varum | |
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| HP:0002983 | Micromelia | |
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| HP:0002984 | Hypoplasia of the radius | "Underdevelopment of the radius." [HPO:curators] |
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| HP:0003022 | Hypoplasia of the ulna | "Underdevelopment of the ulna." [HPO:curators] |
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| HP:0003097 | Short femur | "An abnormal shortening of the thigh bones." [HPO:curators] |
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| HP:0003099 | Fibular overgrowth | |
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| HP:0003300 | Ovoid vertebral bodies | |
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| HP:0003307 | Hyperlordosis | |
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| HP:0003498 | Short stature, disproportionate | |
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| 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] |
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| HP:0004279 | Hypoplastic hand | |
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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:0004482 | Relative macrocephaly | "A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account." [HPO:curators] |
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| HP:0005194 | Flattened metatarsal and metacarpal heads | |
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| HP:0005736 | Hypoplastic tibia | |
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| HP:0005792 | Humeral hypoplasia | |
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| HP:0005819 | Abnormally short and broad middle phalanges | |
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| HP:0006059 | Cone-shaped metacarpal epiphyses | "A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a ball-in-a-socket appearance. This epiphyses are located at the distal ends of the metacarpal bones." [HPO:curators] |
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| HP:0006146 | Thin metacarpals with broad epiphyses | |
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| HP:0006165 | Proportionate shortening of all digits | |
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| HP:0006213 | Thin proximal phalanges with broad epiphyses | |
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| HP:0006236 | Long, slender metacarpals | |
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| HP:0006438 | Large distal femoral epiphyses | |
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| HP:0008789 | Cone-shaped capital femoral epiphyses | |
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| HP:0008873 | Short stature, disproportionate short-limbed | "A type of short stature characterized by a short limbs but an average-sized trunk." [HPO:curators] |
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| HP:0009279 | Radial deviation of the 4th finger | "Displacement of the 4th finger towards the radial side." [HPO:curators] |
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| HP:0009462 | Radial deviation of the 3rd finger | "Displacement of the 3rd finger towards the radial side." [HPO:curators] |
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| HP:0009467 | Radial deviation of the 2nd finger | "Displacement of the 2nd finger towards the radial side." [HPO:curators] |
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| HP:0009638 | Hypoplastic/small proximal phalanx of the thumb | "Hypoplastic/small proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] |
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| HP:0009778 | Hypoplastic/small thumb | |
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| HP:0009882 | Hypoplasia of the distal phalanges of the hand | |
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| HP:0010017 | Cone-shaped epiphysis of the 1st metacarpal | |
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| HP:0010049 | Hypoplastic/short metacarpal bones | |
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| HP:0010107 | Hypoplastic/small proximal phalanx of the hallux | |
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| HP:0010109 | Hypoplastic/small hallux | |
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| HP:0010241 | Hypoplasia of the proximal phalanges of the hand | |
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| HP:0010306 | Short thorax | "Reduced inferior to superior extent of the thorax." [HPO:curators] |
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| HP:0010575 | Dysplastic femoral head | |
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| HP:0010579 | Cone-shaped epiphyses | |
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| HP:0100864 | Hypoplasia of the femoral neck | |
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