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2p21 microdeletion syndrome
Disease Summary
Associated Targets (4)
Tbio
3
Tchem
1
Mondo Description The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.
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:163693
SCTID:719652007
UMLS:C4304537
UMLS:CN199952
MONDO:0015583
High level summary of knowledge for a disease, including descriptions and datasource references.