FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Pendred Syndrome ID (Ontology) DOID:0060744 (Human Disease)
Definition A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q.
Also Known As "congenital hypothyroidism due to dyshormonogenesis 2B" ; "deafness with goiter" ; "genetic defect in thyroid hormonogenesis 2B" (for all, see Synonyms field below)
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 Genes
 Pendred Syndrome       1
 for disease ribbon | Pendred Syndrome       1
 model of | Pendred Syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 Pendred Syndrome  1 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "congenital hypothyroidism due to dyshormonogenesis 2B" EXACT
    "deafness with goiter" EXACT
    "genetic defect in thyroid hormonogenesis 2B" EXACT
    "goiter-deafness syndrome" EXACT
    "TDH2B" EXACT OMO:0003012
    "thyroid dyshormonogenesis 2B" EXACT
Secondary IDs
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GARD:4271
ICD10CM:E07.1
MESH:C536648
MIM:274600
NCI:C121745
ORDO:705
SNOMEDCT_US_2023_03_01:70348004
UMLS_CUI:C0271829