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Echinobase
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:

Echinobase Genes : col2a1


OMIM:
MIM:108300 - stickler syndrome, type i; stl1

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

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