| Metadata | |
|---|---|
| ID | DOID:0112296 |
| PURL | http://purl.obolibrary.org/obo/DOID_0112296 Copy |
| Name | spondylometaphyseal dysplasia Algerian type |
| Definition | A spondylometaphyseal dysplasia characterized by a short trunk and severe genu valgum and that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13. https://pubmed.ncbi.nlm.nih.gov/23653587/, https://pubmed.ncbi.nlm.nih.gov/3368247/ |
| Xrefs |
SNOMEDCT_US_2025_09_01:719304005 |
| Subsets |
DO_rare_slim |
| Synonyms |
spondylometaphyseal dysplasia with severe genu valgum [EXACT] spondylometaphyseal dysplasia, Schmidt type [EXACT] |
| Parent Relationships |