| Metadata | |
|---|---|
| ID | DOID:0111348 |
| Name | multiple epiphyseal dysplasia with myopia and deafness |
| Definition | A syndrome characterized by typically mild epiphyseal dysplasia, progessive myopia, retinal thinning, crenated cataracts, conductive deafness and brachydactyly that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. https://www.ncbi.nlm.nih.gov/pubmed/9800905, https://www.ncbi.nlm.nih.gov/pubmed/699354 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
EDMMD [EXACT] multiple epiphyseal dysplasia, Beighton type [EXACT] multiple epiphyseal dysplasia-myopia-deafness syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |