| Metadata | |
|---|---|
| ID | DOID:0070299 |
| Name | multiple epiphyseal dysplasia 5 |
| Definition | A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24. https://www.ncbi.nlm.nih.gov/pubmed/11479597 |
| Xrefs |
SNOMEDCT_US_2023_03_01:715674008 |
| Subsets |
DO_rare_slim |
| Synonyms |
BHMED [EXACT] bilateral hereditary microepiphyseal dysplasia [EXACT] EDM5 [EXACT] multiple epiphyseal dysplasia MATN3-related [EXACT] |
| Parent Relationships |