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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 PTPN11 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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last database update
02/18/2020
MGI 6.14
The Jackson Laboratory