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Term:Pendred syndrome
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Accession:DOID:0060744 term browser browse the term
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. (DO)
Synonyms:exact_synonym: Autosomal Recessive Sensorineural Hearing Impairment and Goiter;   Deafness with goiter;   Goiter-deafness syndrome;   Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2B;   PDS;   Pendred's Syndrome;   TDH2B;   Thyroid Dyshormonogenesis 2B;   Thyroid Hormonogenesis, Genetic Defect In, 2B
 broad_synonym: SLC26A4-RELATED DISORDER
 primary_id: MESH:C536648
 alt_id: OMIM:274600;   RDO:0002288
 xref: GARD:4271;   NCI:C121745;   ORDO:705
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Pendred syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxi1 forkhead box I1 JBrowse link 10 19,160,566 19,164,505 RGD:8554872
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 JBrowse link 13 90,722,945 90,753,338 RGD:8554872
G Kcnj9 potassium inwardly-rectifying channel, subfamily J, member 9 JBrowse link 13 90,703,046 90,710,148 RGD:8554872
G Slc26a4 solute carrier family 26 member 4 JBrowse link 6 50,809,103 50,848,443 RGD:7240710

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Path 1
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  disease 15619
    syndrome 5154
      Pendred syndrome 4
Path 2
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  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          Otorhinolaryngologic Diseases 1075
            auditory system disease 684
              Hearing Disorders 569
                Hearing Loss 565
                  sensorineural hearing loss 459
                    Pendred syndrome 4
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.