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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 PTPN11 on chromosome 12q24.13.
https://www.ncbi.nlm.nih.gov/pubmed/20577567
Xrefs

GARD:3560

MESH:C562938

OMIM:156250

ORDO:2499

SNOMEDCT_US_2020_09_01:205481009

UMLS_CUI:C0410530

Synonyms

METCDS [EXACT]

Parent Relationships

is_a osteochondrodysplasia

is_a autosomal dominant disease

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