| Metadata | |
|---|---|
| ID | DOID:0111512 |
| Name | metachondromatosis |
| Definition | An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.13. https://www.ncbi.nlm.nih.gov/pubmed/20577567 |
| Xrefs |
SNOMEDCT_US_2023_03_01:205481009 |
| Subsets |
DO_rare_slim |
| Synonyms |
METCDS [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |