| Metadata | |
|---|---|
| ID | DOID:0070300 |
| Name | multiple epiphyseal dysplasia 4 |
| Definition | A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32. https://www.ncbi.nlm.nih.gov/pubmed/10465113 |
| Xrefs |
SNOMEDCT_US_2023_03_01:715672007 |
| Subsets |
DO_rare_slim |
| Synonyms |
EDM4 [EXACT] MED4 [EXACT] multiple epiphyseal dysplasia with bilateral patellae [EXACT] multiple epiphyseal dysplasia with clubfoot [EXACT] Polyepiphyseal dysplasia type 4 [EXACT] rMED [EXACT] |
| Parent Relationships |