Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:Pendred syndrome
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
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 inwardly-rectifying channel, subfamily J, member 10 JBrowse link 13 90,722,945 90,753,338 RGD:8554872
RGD:11554173
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
RGD:8554872
RGD:11554173
RGD:7411554
RGD:7421510
RGD:7421514

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      Pendred syndrome 4
Path 2
Term Annotations click to browse term
  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

NHLBI Logo

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