OBO ID: DOID:0060398
Term Name: chromosome 16p11.2 deletion syndrome, 220-kb Search Ontology:
Synonyms:
  • 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:
  • OMIM:613444
  • ORDO:261222
  • UMLS_CUI:C3150701
  • UMLS_CUI:C4518824
Ontology: Human Disease   ( DOID:0060398 )
Relationships
is a type of:
OTHER chromosome 16p11.2 deletion syndrome, 220-kb PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (2)
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