| 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:0000098 | Increased body height | |
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| HP:0000268 | Dolichocephaly | |
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| HP:0000912 | Sprengel anomaly | "A complex deformity characterized by congenital elevation of the scapula." [HPO:curators] |
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| HP:0000938 | Osteopenia | "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators] |
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| HP:0001156 | Brachydactyly | |
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| HP:0001166 | Arachnodactyly | "Abnormally long and slender fingers ("spider fingers")." [HPO:curators] |
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| HP:0001230 | Broad metacarpals | |
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| HP:0001377 | Limited elbow extension | |
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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:0001500 | Broad fingers | |
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| HP:0001783 | Broad metatarsals | |
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| HP:0001799 | Short nails | |
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| HP:0001831 | Brachydactyly (feet) | |
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| HP:0001847 | Increased length of the hallux | "Increased length of the big toe." [HPO:curators] |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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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:0002808 | Kyphosis | |
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| HP:0002938 | Lumbar hyperlordosis | |
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| HP:0002984 | Hypoplasia of the radius | "Underdevelopment of the radius." [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:0003086 | Acromesomelia | |
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| HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
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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:0003508 | Proportionate short stature | "Short stature affecting the trunk and the limbs proportionately." [HPO:curators] |
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| HP:0004568 | Beaking of vertebral bodies | |
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| HP:0004633 | lower thoracic kyphosis | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0005619 | Thoracolumbar kyphosis | |
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| HP:0005692 | Joint hyperflexibility | |
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| HP:0006009 | Widened phalanges | |
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| HP:0006487 | Bowing of the long bones | |
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| HP:0007516 | Loose, redundant skin on fingers | |
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| HP:0008422 | Wedge-shaped vertebrae | |
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| HP:0008484 | Narrow thoracolumbar interpediculate distance | |
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| HP:0009803 | Hypoplastic/small phalanges of the hand | |
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| HP:0010049 | Hypoplastic/short metacarpal bones | |
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| HP:0010055 | Broad hallux | |
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| HP:0010230 | Cone-shaped epiphyses of the phalanges of the hand | "A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a ball-in-a-socket appearance. The related entity angel-shaped epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [HPO:curators] |
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| HP:0010743 | Hypoplasia of the metatarsal bones | |
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| HP:0011220 | Prominent forehead | "Forward prominence of the entire forehead, due to protrusion of the frontal bone." [pmid:19125436] |
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