| 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:0000763 | Sensory neuropathy | "Peripheral neuropathy affecting primarily the sensory nerves." [HPO:curators] |
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| HP:0000926 | Platyspondyly | |
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| HP:0000944 | Abnormality of the metaphyses | |
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| HP:0001156 | Brachydactyly | |
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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:0001373 | Joint dislocation | "Displacement or malalignment of joints." [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:0001388 | Joint laxity | |
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| HP:0001425 | Heterogeneous | |
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| HP:0001498 | Carpal bone hypoplasia | |
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| HP:0001773 | Short, broad feet | "Abnormally short and wide feet." [HPO:curators] |
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| HP:0002341 | Cervical cord compression | |
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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:0002656 | Epiphyseal dysplasia | |
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| HP:0002663 | Late ossifying epiphyses | |
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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:0002761 | Generalized joint laxity | "Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body." [HPO:curators] |
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| HP:0002808 | Kyphosis | |
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| HP:0002816 | Genu recurvatum | |
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| HP:0002829 | Arthralgia | |
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| HP:0002834 | Flared femurs and humeri | |
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| HP:0002857 | Genu valgum | |
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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:0003026 | Short long bones | |
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| HP:0003049 | Ulnar deviation of the wrist | |
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| HP:0003093 | Limited elbow and hip extension | |
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| HP:0003272 | Abnormality of the hip | "An abnormality of the hip joint or the surrounding anatomic region." [HPO:curators] |
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| HP:0003300 | Ovoid vertebral bodies | |
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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:0003307 | Hyperlordosis | |
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| HP:0003311 | Hypoplastic odontoid process | |
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| HP:0003414 | Atlantoaxial dislocation | "Partial dislocation of the atlantoaxial joint." [HPO:curators] |
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| HP:0003502 | Mild short stature | "A mild degree of short stature." [HPO:curators] |
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| HP:0003510 | Short stature, severe | "A severe degree of short stature." [HPO:curators] |
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| HP:0004019 | Irregular radial metaphysis | |
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| HP:0004042 | Irregular ulnar metaphysis | |
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| HP:0004236 | Irregular carpal bones | |
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| HP:0004279 | Hypoplastic hand | |
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| HP:0004390 | Hamartomatous polyps | "Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestine. Patients with Cowden-Syndrom for example often have multpile hamartomatous gastrointestinal polyps." [HPO:curators] |
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| HP:0004568 | Beaking of vertebral bodies | |
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| HP:0005063 | fragmented, irregular epiphyses | |
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| HP:0005692 | Joint hyperflexibility | |
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| HP:0005743 | Abnormal femoral head with degenerative changes | |
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| HP:0005930 | Abnormality of the epiphyses | |
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| HP:0006429 | Broad femoral neck | "An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)." [HPO:Curators] |
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| HP:0008800 | Limited hip movement | |
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| HP:0008843 | Hip osteoarthritis | |
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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:0009487 | Ulnar deviation of the hand | "A deviation of the orientation of the hand in the direction of the ulna (i.e., towards the little finger)." [HPO:curators] |
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| HP:0009803 | Hypoplastic/small phalanges of the hand | |
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| HP:0009882 | Hypoplasia of the distal phalanges of the hand | |
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| HP:0010049 | Hypoplastic/short metacarpal bones | |
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| HP:0010236 | Small epiphyses of the phalanges of the hand | "Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms." [HPO:curators] |
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| HP:0010582 | Irregular epiphyses | |
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| HP:0010585 | Small epiphyses | |
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| HP:0011405 | Childhood onset short-limb short stature | |
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| HP:0012307 | Spatulate ribs | "Ribs that are increased in width and taper to the posterior ends." [HPO:probinson, pmid:20504305] |
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| HP:0100168 | Fragmented epiphyses | "Fragmented appearance of the epiphyses." [HPO:sdoelken] |
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| HP:0100864 | Hypoplasia of the femoral neck | |
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| HP:0200008 | Multiple intestinal polyps | |
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