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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.


Echinobase Genes : fgfr3

OMIM:146000 - hypochondroplasia; hch

Other Model Organisms: AGR, 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)