FNS-Harmony

Last uploaded: November 2, 2023
Preferred Name

hereditary multiple exostoses

Synonyms
Definitions

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.

ID

http://purl.obolibrary.org/obo/DOID_206

definition

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.

imported from

http://purl.obolibrary.org/obo/doid.owl

label

hereditary multiple exostoses

prefixIRI

DOID:206

prefLabel

hereditary multiple exostoses

subClassOf

http://purl.obolibrary.org/obo/DOID_203

http://purl.obolibrary.org/obo/DOID_0050736

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