ONTOLOGY REPORT - ANNOTATIONS


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
 primary_id: MESH:C536648
 alt_id: OMIM:274600;   RDO:0002288
 xref: GARD:4271;   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
RGD:11554173
G Kcnj10 potassium voltage-gated channel subfamily J member 10 JBrowse link 13 90,722,945 90,753,338 RGD:8554872
RGD:11554173
G Kcnj9 potassium voltage-gated 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
RGD:8554872
RGD:11554173
RGD:7411554
RGD:7421510
RGD:7421514

Term paths to the root
Path 1
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  disease 14823
    syndrome 4218
      Pendred syndrome 4
Path 2
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  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        sensory system disease 4244
          Otorhinolaryngologic Diseases 1038
            auditory system disease 662
              Hearing Disorders 551
                Hearing Loss 547
                  sensorineural hearing loss 428
                    Pendred syndrome 4
paths to the root

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