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retinal dystrophy with or without extraocular anomalies
Disease Summary
Associated Targets (1)
Tbio
1
Uniprot Description An autosomal recessive disease characterized by progressive retinal dystrophy, chorioretinal macular atrophy, reduced cone and rod responses on ERG, and decrease visual acuity. Extraocular anomalies are variably present in some patients and include pulmonary fibrosis, sensorineural hearing loss, and endocrine features such as goiter and primary ovarian insufficiency.
Mondo Term and Equivalent IDs
MONDO:0014955: retinal dystrophy with or without extraocular anomalies
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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 UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:617175
UMLS:C4310680
MONDO:0014955
High level summary of knowledge for a disease, including descriptions and datasource references.