spondylometaphyseal dysplasia, Kozlowski type
disease characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly
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spondylometaphyseal dysplasia, Kozlowski type
Summary
spondylometaphyseal dysplasia, Kozlowski type is a genetic disease[1].
Key Facts
- spondylometaphyseal dysplasia, Kozlowski type's instance of is recorded as genetic disease[2].
- spondylometaphyseal dysplasia, Kozlowski type's instance of is recorded as hereditary disorder[3].
- spondylometaphyseal dysplasia, Kozlowski type's instance of is recorded as developmental defect during embryogenesis[4].
- spondylometaphyseal dysplasia, Kozlowski type's instance of is recorded as rare disease[5].
- spondylometaphyseal dysplasia, Kozlowski type's instance of is recorded as class of disease[6].
- spondylometaphyseal dysplasia, Kozlowski type is a type of spondylometaphyseal dysplasia[7].
- spondylometaphyseal dysplasia, Kozlowski type is a type of TRPV4-related bone disorder[8].
- spondylometaphyseal dysplasia, Kozlowski type is a type of autosomal dominant disease[9].
- spondylometaphyseal dysplasia, Kozlowski type is a type of metaphyseal dysplasia[10].
- spondylometaphyseal dysplasia, Kozlowski type's genetic association is recorded as TRPV4[11].
- spondylometaphyseal dysplasia, Kozlowski type's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_93314[12].
- spondylometaphyseal dysplasia, Kozlowski type's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111554[13].
- spondylometaphyseal dysplasia, Kozlowski type's exact match is recorded as http://identifiers.org/doid/DOID:0111554[14].