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DO Term : Williams-Beuren syndrome [DOID:1928] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • NCI:C85232,
  • MESH:D018980,
  • WBS,
  • 194050,
  • OMIM:194050,
  • SNOMEDCT_US_2023_03_01:63247009,
  • UMLS_CUI:C0175702,
  • ICD10CM:Q93.82,
  • Fanconi Schlesinger syndrome
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Disease

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Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents