| Metadata | |
|---|---|
| ID | DOID:0112195 |
| Name | spondyloperipheral dysplasia |
| Definition | An osteochondrodysplasia characterized by platyspondyly, brachydactyly type E changes, bilateral short ulnae, and mild short stature that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. https://pubmed.ncbi.nlm.nih.gov/15316962/, https://pubmed.ncbi.nlm.nih.gov/8723097/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
spondyloperipheral dysplasia-short ulna syndrome [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |