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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:
Xenbase Genes
:
col11a2,
col2a1,
col11a1
| MONDO:0019354 - Stickler syndrome |
| MIM:108300 - STICKLER SYNDROME, TYPE I; STL1 |
| MIM:184840 - OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA |
| 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)