FB2026_03 , released September 17, 2026
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Term Waardenburg syndrome ID (Ontology) DOID:9258 (Human Disease)
Definition A syndrome characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes.
Also Known As"van der Hoeve Halbertsona Waardenburg syndrome" ; "Waardenburg Shah syndrome" ; "Waardenburg's syndrome"
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                Waardenburg syndrome  7 rec.
                                 |__Waardenburg syndrome type 1 5 rec.
                                 |__Waardenburg syndrome type 2A 1 rec.
                                 |__Waardenburg syndrome type 2B
                                 |__Waardenburg syndrome type 2C
                                 |__Waardenburg syndrome type 2E 1 rec.
                                 |__Waardenburg syndrome type 3 5 rec.
                                 |__Waardenburg syndrome type 4A
                                 |__Waardenburg syndrome type 4B
                                 |__Waardenburg syndrome type 4C 1 rec.
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Is a autosomal dominant disease
syndrome
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Synonyms
  • "van der Hoeve Halbertsona Waardenburg syndrome" EXACT
    "Waardenburg Shah syndrome" EXACT
    "Waardenburg's syndrome" EXACT
    "Waardenburg, types I and/or II" NARROW
Secondary IDs
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GARD:5525
MESH:D014849
MIM:PS193500
NCI:C75008
NCI:C85222
ORDO:3440
ORDO:895
SNOMEDCT_US_2025_09_01:1010606009
SNOMEDCT_US_2025_09_01:190695000
SNOMEDCT_US_2025_09_01:47434006
UMLS_CUI:C0079661
UMLS_CUI:C1847800
UMLS_CUI:C3266898