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Summary Literature (0)
DOID:0080045 - Kniest dysplasia

Disease Ontology Definition:An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face.

Synonyms:

Xenbase Genes : col2a1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007987 - Kniest dysplasia

MIM:
MIM:156550 - KNIEST DYSPLASIA

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)