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8p11.2 deletion syndrome
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description 8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.
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.
Orphanet:251066
SCTID:719646006
UMLS:C4304505
UMLS:CN201887
MONDO:0016657
High level summary of knowledge for a disease, including descriptions and datasource references.