| Metadata | |
|---|---|
| ID | DOID:0112285 |
| Name | autosomal dominant spondyloepiphyseal dysplasia tarda |
| Definition | A spondyloepiphyseal dysplasia tarda that has_material_basis_in heterozygous mutation in a region of chromosome 12q13. https://pubmed.ncbi.nlm.nih.gov/3213464/, https://pubmed.ncbi.nlm.nih.gov/1353665/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |