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Coats plus syndrome

Disease Summary
Associated Targets (2)
Tbio

2


Mondo Description Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.
Mondo Term and Equivalent IDs
MONDO:0012815:  Coats plus syndrome
MESH:C567401: 
OMIMPS:612199: 
Orphanet:313838: 
SCTID:711482008: 
UMLS:CN282828: