| Metadata | |
|---|---|
| ID | DOID:0050463 |
| Name | campomelic dysplasia |
| Definition | An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles. http://www.healthline.com/galecontent/campomelic-dysplasia-1, http://ghr.nlm.nih.gov/condition/campomelic-dysplasia, http://en.wikipedia.org/wiki/Campomelic_dysplasia |
| Xrefs | |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Acampomelic Campomelic Dysplasia [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has location some tibia disease has location some femur has material basis in some autosomal dominant inheritance |