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Summary Literature (0)
DOID:0080041 - hypochondroplasia

Disease Ontology Definition:An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism.

Synonyms:

Xenbase Genes : fgfr3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007793 - hypochondroplasia

MIM:
MIM:146000 - HYPOCHONDROPLASIA; HCH

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), osteochondrodysplasia (is_a)