| 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:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000365 | Hearing loss | |
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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:0001363 | Craniosynostosis | "Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth." [HPO:curators] |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002515 | Waddling gait | |
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| HP:0002812 | Coxa vara | |
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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:0003072 | Hypercalcemia | "A level of blood calcium that is higher than normal." [HPO:curators] |
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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:0003371 | Enlarged capital femoral epiphyses | |
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| HP:0003502 | Mild short stature | "A mild degree of short stature." [HPO:curators] |
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| HP:0004348 | Abnormality of bone mineral density | "This term applies to all changes in bone mineralisation and or ossification which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atypic calicfications of different origin and distribution. The overall amount of mineralisation of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient s age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ." [HPO:curators] |
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| HP:0005019 | Diaphyseal thickening | |
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| HP:0005819 | Abnormally short and broad middle phalanges | |
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| HP:0005871 | Metaphyseal chondrodysplasia | |
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| HP:0005930 | Abnormality of the epiphyses | |
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| HP:0006028 | Metaphyseal cupping of metacarpals | "Metaphyseal cupping affecting the metacarpal bones." [HPO:curators] |
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| HP:0006208 | Metaphyseal cupping of proximal phalanges | "Metaphyseal cupping affecting the proximal phalanges." [HPO:curators] |
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| HP:0006414 | Tibial bowing, especially at ankle | |
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| HP:0006431 | Metaphyseal abnormalities of distal and proximal femurs | |
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| HP:0008833 | Irregular acetabular roof | |
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| HP:0008848 | Moderately short stature | "A moderate degree of short stature." [HPO:curators] |
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| HP:0009826 | Hypoplasia involving bones of the extremities | |
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| HP:0009844 | Broad middle phalanges of the hand | |
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| HP:0009882 | Hypoplasia of the distal phalanges of the hand | |
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