About: hereditary multiple exostoses

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An Entity of Type : owl:Class, within Data Space : demo.openlinksw.com associated with source document(s)

OMIM mapping confirmed by DO. [SN].

Attributes	Values
type	Class
subClassOf	exostosis autosomal dominant disease nodeID://b50950478
label	hereditary multiple exostoses
comment	OMIM mapping confirmed by DO. [SN].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:206
database_cross_reference	ICD10CM:Q78.6 MESH:D005097 NCI:C5183 OMIM:133700 OMIM:133701 OMIM:600209 ORDO:321 SNOMEDCT_US_2021_09_01:254044004 UMLS_CUI:C0015306
has_exact_synonym	Multiple congenital exostosis (en) Multiple exostosis syndromes (en) Osteochondromatosis syndrome (en) hereditary multiple exostoses 1 (en) hereditary multiple exostoses 2 (en) hereditary multiple exostoses 3 (en) multiple ostechondromas (en)
has_obo_namespace	disease_ontology
in_subset	DO_rare_slim NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	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.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50950479

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