Term Name: | metachondromatosis |
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Synonyms: | METCDS |
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. |
Ontology: | Human Disease [DOID:0111512] ( DOID:0111512 ) |