| Metadata | |
|---|---|
| ID | DOID:0112150 |
| Name | X-linked spondyloepimetaphyseal dysplasia |
| Definition | A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28. https://pubmed.ncbi.nlm.nih.gov/27236923/, https://pubmed.ncbi.nlm.nih.gov/8064814/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:770603000 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
SEMD X-linked [EXACT] SEMDX [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance |