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recombinant 8 syndrome
Disease Summary
Associated Targets ()
Mondo Description Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.
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:0009698
MESH:C535296
OMIM:179613
Orphanet:96167
SCTID:718189004
UMLS:C0795822
MONDO:0008365
High level summary of knowledge for a disease, including descriptions and datasource references.