| Metadata | |
|---|---|
| ID | DOID:14789 |
| Name | spondyloepiphyseal dysplasia congenita |
| Definition | A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. https://pubmed.ncbi.nlm.nih.gov/1971141/ |
| Xrefs | |
| Alternateids |
DOID:0080025 |
| Subsets |
DO_rare_slim |
| Synonyms |
Late Spondyloepiphyseal Dysplasia [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |