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DO Term : metachondromatosis [DOID:0111512] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • ORDO:2499,
  • METCDS,
  • MESH:C562938,
  • SNOMEDCT_US_2023_03_01:205481009,
  • 156250,
  • OMIM:156250,
  • GARD:3560,
  • UMLS_CUI:C0410530
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents