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Summary Literature (0)
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:

In OMIM:
OMIM:108300 - STICKLER SYNDROME, TYPE I; STL1


Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : col2a1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): Stickler syndrome (is_a), autosomal dominant disease (is_a)