| 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:0000234 | Head abnormality | |
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| HP:0000670 | Carious teeth | |
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| HP:0000926 | Platyspondyly | |
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| HP:0000944 | Abnormality of the metaphyses | |
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| HP:0001270 | Motor retardation | |
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| HP:0001288 | Gait disturbance | "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators] |
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| HP:0001376 | Decreased mobility of joints | |
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| HP:0001377 | Limited elbow extension | |
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| HP:0001385 | Hip dysplasia | |
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| HP:0001387 | Joint stiffness | "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [HPO:curators] |
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| HP:0002515 | Waddling gait | |
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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: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:0002758 | Osteoarthritis | |
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| HP:0002812 | Coxa vara | |
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| HP:0002814 | Abnormality of the lower limbs | "An abnormality of the legs." [HPO:curators] |
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| HP:0002857 | Genu valgum | |
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| HP:0002869 | Flared iliac wings | |
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| HP:0002970 | Genu varum | |
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| HP:0002980 | Femoral bowing | "Bowing (abnormal curvature) of the femur." [HPO:curators] |
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| HP:0002982 | Tibial bowing | "A developmental defect with posteromedial tibial angulation." [HPO:curators] |
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| HP:0002986 | Radial bowing | |
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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:0003016 | Metaphyseal widening | "Abnormal widening of the metaphyseal regions of long bones." [HPO:curators] |
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| HP:0003021 | Metaphyseal cupping | "Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance." [HPO:curators] |
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| HP:0003031 | Ulnar bowing | "Bending of the diaphysis (shaft) of the ulna, usually in the convex posterior direction." [HPO:curators] |
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| HP:0003071 | Flattened epiphyses | |
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| HP:0003307 | Hyperlordosis | |
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| HP:0003498 | Short stature, disproportionate | |
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| HP:0004039 | Abnormality of ulnar metaphysis | |
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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:0004349 | Reduced bone mineral density | "A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones." [HPO:curators] |
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| HP:0004566 | Pear-shaped vertebrae | |
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| HP:0004979 | Sclerotic, widened metaphyses | |
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| HP:0005871 | Metaphyseal chondrodysplasia | |
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| HP:0005930 | Abnormality of the epiphyses | |
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| HP:0006385 | Short lower limbs | |
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| HP:0006409 | Progressive leg bowing | |
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| HP:0006487 | Bowing of the long bones | |
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| HP:0006501 | Aplasia/Hypoplasia of the radius | "A small/hypoplastic or absent/aplastic radius." [HPO:curators] |
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| HP:0006603 | Flared, irregular rib ends | |
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| HP:0008476 | Irregular sclerotic endplates | |
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| HP:0008905 | Rhizomelic short stature | |
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| HP:0010585 | Small epiphyses | |
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