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Stickler syndrome, type 5
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A2 gene.
Uniprot Description An autosomal recessive form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. STL5 is characterized by high myopia, vitreoretinal degeneration, retinal detachment, mild to moderate sensorineural hearing loss, short stature in childhood, and absence of cleft palate and Pierre Robin sequence.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:614284
UMLS:C3280342
MONDO:0013666
High level summary of knowledge for a disease, including descriptions and datasource references.