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Pendred Syndrome (MONDO:0010134)

Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.

Overview

Category

Ontology ID

Internal:11317

Synonyms

Pendred syndrome

TDH2B

deafness with goiter

deafness with goitre

goiter-deafness syndrome

hypothyroidism, congenital, due to dyshormonogenesis, 2B

thyroid dyshormonogenesis 2B

thyroid hormonogenesis, genetic defect in, 2B

PDS

autosomal recessive sensorineural hearing impairment and goiter

autosomal recessive sensorineural hearing impairment and goitre

Mapped terms

DOID:0060744

GARD:0004271

MEDGEN:82890

MESH:C536648

NCIT:C121745

NORD:2030

OMIM:274600

Orphanet:705

SCTID:70348004

UMLS:C0271829

icd11.foundation:1156056623

Child terms

Unknown children.