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ring chromosome 20
Disease Summary
Associated Targets ()
Mondo Description Ring chromosome 20 syndrome is marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioural problems. In rare cases, brain, kidney or heart malformations may be present.
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:0001334
MESH:C580424
NCIT:C169001
Orphanet:1444
SCTID:23686004
MONDO:0015436
High level summary of knowledge for a disease, including descriptions and datasource references. Click the "?" for more details.