| Metadata | |
|---|---|
| ID | DOID:0070303 |
| Name | multiple epiphyseal dysplasia 1 |
| Definition | A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13. https://www.ncbi.nlm.nih.gov/pubmed/7670471, https://www.ncbi.nlm.nih.gov/pubmed/7670472 |
| Xrefs |
SNOMEDCT_US_2023_03_01:715673002 |
| Subsets |
DO_rare_slim |
| Synonyms |
EDM1 [EXACT] MED1 [EXACT] multiple epiphyseal dysplasia COMP-related [EXACT] polyepiphyseal dysplasia type 1 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |