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DOID:0080676 - Stickler syndrome 1
Disease Ontology Definition:A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.
Synonyms:
Xenbase Genes : col2a1
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee