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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Pendred syndrome
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Accession:DOID:0060744 term browser browse the term
Definition:A syndrome 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: Goiter-deafness syndrome;   PDS;   Pendred's syndrome;   TDH2B;   autosomal recessive sensorineural hearing impairment and goiter;   congenital hypothyroidism due to dyshormonogenesis, 2B;   deafness with goiter;   genetic defect in thyroid hormonogenesis 2B;   thyroid dyshormonogenesis 2B
 broad_synonym: SLC26A4-RELATED CONDITION;   SLC26A4-related disorder
 primary_id: MESH:C536648
 alt_id: MIM:274600
 xref: GARD:4271;   ICD10CM:E07.1;   NCI:C121745;   ORDO:705

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show annotations for term's descendants           Sort by:
Pendred syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn9 claudin 9 ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 PMID:35802133 PMID:36633841 NCBI chrNW_004955442:14,326,705...14,328,150
Ensembl chrNW_004955442:14,327,140...14,327,793 		JBrowse link
G Diaph1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 NCBI chrNW_004955415:12,156,152...12,272,961
Ensembl chrNW_004955415:12,156,152...12,272,961 		JBrowse link
G Foxi1 forkhead box I1 ISO ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:17503324 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chrNW_004955408:23,074,876...23,078,766
Ensembl chrNW_004955408:23,074,850...23,078,815 		JBrowse link
G Kcnj10 potassium inwardly rectifying channel subfamily J member 10 ISO ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome | ClinVar Annotator: match by term: SLC26A4-related condition ClinVar PMID:19289823 PMID:20651251 PMID:20678478 PMID:20807765 PMID:21088294 More... NCBI chrNW_004955468:11,828,525...11,860,365
Ensembl chrNW_004955468:11,828,525...11,860,365 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:24033266 PMID:28492532 PMID:30311386 PMID:30718709 NCBI chrNW_004955414:14,576,356...14,647,500
Ensembl chrNW_004955414:14,576,356...14,647,500 		JBrowse link
G Otof otoferlin ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 NCBI chrNW_004955469:8,480,099...8,569,215
Ensembl chrNW_004955469:8,481,231...8,569,265 		JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B | ClinVar Annotator: match by term: Pendred syndrome | ClinVar Annotator: match by term: SLC26A4-related condition | ClinVar Annotator: match by term: THYROID DYSHORMONOGENESIS 2B OMIM
ClinVar		 PMID:1920407 PMID:2422447 PMID:8285825 PMID:8541853 PMID:8630498 More... NCBI chrNW_004955410:12,008,067...12,057,147
Ensembl chrNW_004955410:12,009,102...12,059,637 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14316
    syndrome 9733
      Pendred syndrome 7
Path 2
Term Annotations click to browse term
  disease 14316
    disease of anatomical entity 14023
      nervous system disease 12336
        Neurologic Manifestations 9193
          sensory system disease 6527
            Otorhinolaryngologic Diseases 1619
              auditory system disease 951
                Hearing Disorders 751
                  Hearing Loss 746
                    sensorineural hearing loss 563
                      Pendred syndrome 7
paths to the root