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cat-eye syndrome
Disease Summary
Associated Targets ()
Mondo Description Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal.
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.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
GARD:0000026
MESH:C535918
NCIT:C75477
OMIM:115470
Orphanet:195
SCTID:26445008
UMLS:C0265493
MONDO:0007276
High level summary of knowledge for a disease, including descriptions and datasource references.