Search Ontology:
Human Disease
chromosome 16p11.2 deletion syndrome, 220-kb
- Term ID
- DOID:0060398
- Synonyms
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- distal 16p11.2 microdeletion syndrome
- Definition
- A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 (chr16:28.73-28.95 Mb) encompassing approximately 9 genes, including the SH2B1 gene. https://pubmed.ncbi.nlm.nih.gov/20808231
- References
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- MIM:613444
- ORDO:261222
- UMLS_CUI:C3150701
- UMLS_CUI:C4518824
- Ontology
- Human Disease ( DOID:0060398 )
- is a type of
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Genes Involved
Zebrafish Models