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partial deletion of the long arm of chromosome 8
Disease Summary
Associated Targets (5)
Tbio
5
Mondo Description Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 8q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
Mondo Term and Equivalent IDs
MONDO:0016907: partial deletion of the long arm of chromosome 8
Download Data for partial deletion of the long arm of chromosome 8
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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:0003770
MESH:C537828
Orphanet:262065
UMLS:C0795828
MONDO:0016907
High level summary of knowledge for a disease, including descriptions and datasource references.