metachondromatosis Disease Ontology Browser

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Disease Ontology Browser

metachondromatosis (DOID:0111512)
Alliance: disease page
Synonyms: METCDS
Alt IDs: OMIM:156250, MESH:C562938, ORDO:2499, UMLS_CUI:C0410530
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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