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Metadata
ID DOID:1928
Name Williams-Beuren syndrome
Definition A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23.
https://ghr.nlm.nih.gov/condition/williams-syndrome, https://research.nhgri.nih.gov/atlas/condition/williams-syndrome, https://www.ncbi.nlm.nih.gov/books/NBK1249/
Xrefs

ICD10CM:Q93.82

MESH:D018980

NCI:C85232

OMIM:194050

SNOMEDCT_US_2023_03_01:63247009

UMLS_CUI:C0175702

Subsets

DO_FlyBase_slim

NCIthesaurus

Synonyms

Fanconi Schlesinger syndrome [EXACT]

WBS [EXACT]

Parent Relationships

is_a syndrome

is_a chromosomal deletion syndrome

is_a autosomal dominant disease

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