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Summary Literature (0)
DOID:0080046 - Stickler syndrome


Disease Ontology Definition:A syndrome that is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems.

Synonyms:

In OMIM:
OMIM:108300 - STICKLER SYNDROME, TYPE I; STL1
OMIM:184840 - OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA
OMIM:604841 - STICKLER SYNDROME, TYPE II; STL2

In Mondo Disease Ontology:
MONDO:0019354 - Stickler syndrome

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

Xenbase Genes : col2a1, col11a2, col11a1

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