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. [ url:https://www.ncbi.nlm.nih.gov/books/NBK1249/ url:https://ghr.nlm.nih.gov/condition/williams-syndrome ]

This is just here as a test because I lose it

Term information

database cross reference
  • SNOMEDCT_US_2021_09_01:63247009
  • ICD10CM:Q93.82
  • MESH:D018980
  • UMLS_CUI:C0175702
  • NCI:C85232
  • OMIM:194050
Subsets

DO_FlyBase_slim, NCIthesaurus

comment

OMIM mapping confirmed by DO. [LS].

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.

has exact synonym

Fanconi Schlesinger syndrome

has obo namespace

disease_ontology

id

DOID:1928