FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Waardenburg syndrome type 1 ID (Ontology) DOID:0110948 (Human Disease)
Definition A Waardenburg syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.
Also Known As "Waardenburg syndrome type I" ; "WS1"
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 Genes
 Waardenburg syndrome type 1       5
 for disease ribbon | Waardenburg syndrome type 1       5
 model of | Waardenburg syndrome type 1       5
Spanning Tree (Parents/Children)
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autosomal dominant disease__
syndrome____________________|
                            Waardenburg syndrome
                             |__Waardenburg syndrome type 1  5 rec.
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Synonyms
  • "Waardenburg syndrome type I" EXACT
    "WS1" EXACT OMO:0003012
Secondary IDs
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MESH:D014849
MIM:193500
NCI:C75008
ORDO:894
SNOMEDCT_US_2023_03_01:1010606009
UMLS_CUI:C1847800