Stickler syndrome

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Echinobase

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:

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: col2a1

MIM:

MIM:108300 - stickler syndrome, type i; stl1
MIM:184840 - stickler syndrome, type iii; stl3
MIM:604841 - stickler syndrome, type ii; stl2

MIM:108300 - stickler syndrome, type i; stl1

MIM:184840 - stickler syndrome, type iii; stl3

MIM:604841 - stickler syndrome, type ii; stl2

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), syndrome (is_a)