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congenital heart defects and skeletal malformations syndrome
Disease Summary
Associated Targets (1)
Tclin
1
Uniprot Description An autosomal dominant disorder characterized by congenital heart disease with atrial and ventricular septal defects, variable skeletal abnormalities, and failure to thrive. Skeletal defects include pectus excavatum, scoliosis, and finger contractures. Some patient exhibit joint laxity.
Mondo Term and Equivalent IDs
MONDO:0060532: congenital heart defects and skeletal malformations syndrome
Download Data for congenital heart defects and skeletal malformations 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:617602
UMLS:C4539857
MONDO:0060532
High level summary of knowledge for a disease, including descriptions and datasource references.