FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Williams-Beuren syndrome ID (Ontology) DOID:1928 (Human Disease)
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.
Also Known As "Fanconi Schlesinger syndrome" ; "WBS"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       1
Human Disease Models (FBhh)  DOID       2
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 Alleles Genes Human Disease Models
 Williams-Beuren syndrome       1      1      2
 model of | Williams-Beuren syndrome       1       --       --
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease_____
chromosomal disease                |
 |__chromosomal deletion syndrome__|
disease                            |
 |__syndrome_______________________|
                                   Williams-Beuren syndrome  4 rec.
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Is a autosomal dominant disease
chromosomal deletion syndrome
syndrome
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Synonyms
  • "Fanconi Schlesinger syndrome" EXACT
    "WBS" EXACT OMO:0003012
Secondary IDs
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ICD10CM:Q93.82
MESH:D018980
MIM:194050
NCI:C85232
SNOMEDCT_US_2023_03_01:63247009
UMLS_CUI:C0175702