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deafness, congenital heart defects, and posterior embryotoxon
Disease Summary
Associated Targets (1)
Tbio
1
Uniprot Description An autosomal dominant disease characterized by mild to severe combined hearing loss, congenital heart defects, and posterior embryotoxon, a corneal abnormality consisting of a central collagen core surrounded by a thin layer of Descemets membrane and separated from the anterior chamber by a layer of endothelium. Congenital heart defects include tetralogy of Fallot, ventricular septal defect, or isolated peripheral pulmonic stenosis.
Mondo Term and Equivalent IDs
MONDO:0060713: deafness, congenital heart defects, and posterior embryotoxon
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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.
MESH:C566604
OMIM:617992
MONDO:0060713
High level summary of knowledge for a disease, including descriptions and datasource references.