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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	GARD:3560 MESH:C562938 MIM:156250 ORDO:2499 SNOMEDCT_US_2023_03_01:205481009 UMLS_CUI:C0410530
Subsets	DO_rare_slim
Synonyms	METCDS [EXACT]
Parent Relationships	is_a osteochondrodysplasia is_a autosomal dominant disease