| Metadata | |
|---|---|
| ID | DOID:14687 |
| Name | diastrophic dysplasia |
| Definition | An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism. http://en.wikipedia.org/wiki/Diastrophic_dysplasia, http://www.ncbi.nlm.nih.gov/books/NBK22219/, http://ghr.nlm.nih.gov/condition/diastrophic-dysplasia |
| Xrefs |
SNOMEDCT_US_2023_03_01:58561002 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |