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DO Term : hereditary multiple exostoses [DOID:206] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
OMIM:133701,
600209,
Multiple congenital exostosis,
MESH:D005097,
multiple ostechondromas,
OMIM:600209,
hereditary multiple exostoses 1,
Osteochondromatosis syndrome,
hereditary multiple exostoses 2,
Multiple exostosis syndromes,
SNOMEDCT_US_2023_03_01:254044004,
ICD10CM:Q78.6,
OMIM:133700,
hereditary multiple exostoses 3,
133701,
UMLS_CUI:C0015306,
NCI:C5183,
133700,
ORDO:321

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

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