Human genes for metachondromatosis
Metachondromatosis [DOID:0111512]
An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in PTPN11 on chromosome 12q24.13.
Synonyms: metachondromatosis, DOID:0111512, metachondromatosises, METCDS, METCDSs