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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: OMIM:274600
 xref: GARD:4271;   ICD10CM:E07.1;   NCI:C121745;   ORDO:705


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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 chr16:1,953,439...1,956,349
Ensembl chr16:3,127,610...3,128,263 		JBrowse link
G DIAPH1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 NCBI chr 5:136,876,396...136,980,097 JBrowse link
G FOXI1 forkhead box I1 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:17503324 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 5:165,468,600...165,473,088
Ensembl chr 5:172,228,840...172,232,692 		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 PMID:19289823 PMID:20651251 PMID:20678478 PMID:20807765 PMID:21088294 More... NCBI chr 1:135,391,321...135,424,100 JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:24033266 PMID:28492532 PMID:30311386 PMID:30718709 NCBI chr11:72,187,024...72,265,931
Ensembl chr11:75,834,185...75,907,752 		JBrowse link
G OTOF otoferlin ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 NCBI chr2A:26,454,010...26,555,642
Ensembl chr2A:26,546,959...26,647,278 		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 OMIM
ClinVar		 PMID:1920407 PMID:2422447 PMID:8285825 PMID:8541853 PMID:8630498 More... NCBI chr 7:99,640,703...99,698,109
Ensembl chr 7:112,364,126...112,415,637 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10166
      Pendred syndrome 7
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        Neurologic Manifestations 9644
          sensory system disease 6624
            Otorhinolaryngologic Diseases 1671
              auditory system disease 938
                Hearing Disorders 764
                  Hearing Loss 758
                    sensorineural hearing loss 573
                      Pendred syndrome 7
paths to the root