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Sifrim-Hitz-Weiss syndrome
Disease Summary
Associated Targets (1)
Tchem
1
Uniprot Description An autosomal dominant syndrome characterized by mental retardation, variable congenital defects affecting cardiac, skeletal, and urogenital systems. Short stature, macrocephaly, hearing impairment, and facial dysmorphism are present in some patients.
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:617159
UMLS:C4310688
MONDO:0014946
High level summary of knowledge for a disease, including descriptions and datasource references.