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hereditary multiple exostoses

Go to external page http://purl.obolibrary.org/obo/DOID_206

An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth. [ http://purl.obolibrary.org/obo/ECO_0007638 http://purl.obolibrary.org/obo/ECO_0007637 http://purl.obolibrary.org/obo/ECO_0007646 ]

Term info

Label

hereditary multiple exostoses

Synonyms
  • Multiple congenital exostosis
  • Multiple exostosis syndromes
  • Osteochondromatosis syndrome
  • hereditary multiple exostoses 1
  • hereditary multiple exostoses 2
  • hereditary multiple exostoses 3
  • multiple ostechondromas
database cross reference
Subsets

DO_rare_slim, NCIthesaurus

comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:206