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partial duplication of the long arm of chromosome 2
Disease Summary
Associated Targets ()
Mondo Description Chromosome 2q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.
Mondo Term and Equivalent IDs
MONDO:0016953: partial duplication of the long arm of chromosome 2
Download Data for partial duplication of the long arm of chromosome 2
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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:0005340
MESH:C535367
Orphanet:262842
UMLS:C0795805
MONDO:0016953
High level summary of knowledge for a disease, including descriptions and datasource references.