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Metadata
DOID DOID:0060744
Name Pendred Syndrome
Definition An autosomal recessive disease 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.
https://www.ncbi.nlm.nih.gov/pubmed/9398842
Xrefs

GARD:4271

ICD10CM:E07.1

MESH:C536648

NCI:C121745

OMIM:274600

ORDO:705

SNOMEDCT_US_2018_03_01:70348004

UMLS_CUI:C0271829

Subsets

NCIthesaurus

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]

thyroid dyshormonogenesis 2B [EXACT]

Relationships

is_a autosomal recessive disease

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