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DO Term : cherubism [DOID:1856] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A bone disease characterized by replacement of bone in the jaws with fibrous tissue leding to facial swelling that has_material_basis_in heterozygous mutation in the SH3BP2 gene on chromosome 4p16.3.
  • synonyms:
  • OMIM:118400,
  • MESH:D002636,
  • NCI:C84630,
  • GARD:6036,
  • SNOMEDCT_US_2023_03_01:76098004,
  • 118400,
  • ICD10CM:M27.8,
  • UMLS_CUI:C0008029
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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