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structural heart defects and renal anomalies syndrome
Disease Summary
Associated Targets (1)
Tdark
1
Uniprot Description An autosomal recessive syndrome characterized by central nervous system, cardiac, renal, and digit abnormalities. Clinical features include ventricular and atrial septal defects, truncus arteriosus, tetralogy of Fallot, partial anomalous pulmonary venous return, renal cysts, renal failure, and generalized edema. Some patients show partial agenesis of corpus callosum.
Mondo Term and Equivalent IDs
MONDO:0044321: structural heart defects and renal anomalies syndrome
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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:617478
UMLS:C4479549
MONDO:0044321
High level summary of knowledge for a disease, including descriptions and datasource references.