| 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:0001385 | Hip dysplasia | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002758 | Osteoarthritis | |
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| HP:0002808 | Kyphosis | |
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| HP:0002812 | Coxa vara | |
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| HP:0003182 | Shallow acetabular fossae | |
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| HP:0003370 | Flat capital femoral epiphyses | |
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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:0005041 | Small, irregular capital femoral epiphyses | |
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| HP:0005743 | Abnormal femoral head with degenerative changes | |
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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:0008783 | Enlarged, irregular proximal femoral metaphyses | |
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| HP:0009107 | Abnormal ossification involving the femoral head and neck | |
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| HP:0010574 | Abnormality of the epiphysis of the femoral head | "Any abnormality of the proximal epiphysis of the femur." [HPO:sdoelken] |
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| HP:0011463 | Childhood onset | "Onset of disease at the age of between 1 and 5 years." [DDD:hfirth] |
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