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Emanuel syndrome
Disease Summary
Associated Targets ()
Mondo Description Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities.
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 Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
GARD:0009835
MESH:C535733
OMIM:609029
Orphanet:96170
SCTID:702417004
UMLS:C1836929
MONDO:0012176
High level summary of knowledge for a disease, including descriptions and datasource references. Click the "?" for more details.