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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


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 chr10:12,714,137...12,715,568 JBrowse link
G Diaph1 diaphanous-related formin 1 ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 NCBI chr18:29,669,659...29,769,070
Ensembl chr18:29,669,659...29,769,172 		JBrowse link
G Foxi1 forkhead box I1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:274600
ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome		 CTD
MouseDO
ClinVar		 PMID:17503324 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr10:18,806,292...18,810,231
Ensembl chr10:18,806,308...18,810,231 		JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome		 CTD
ClinVar		 PMID:19289823 PMID:20651251 PMID:20678478 PMID:20807765 PMID:21088294 More... NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:24033266 PMID:28492532 PMID:30311386 PMID:30718709 NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157 		JBrowse link
G Otof otoferlin ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 NCBI chr 6:25,928,018...26,024,631
Ensembl chr 6:25,928,055...26,024,631 		JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO
ISS		 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:274600
DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1920407 PMID:2422447 PMID:8285825 PMID:8541853 PMID:8630498 More... RGD:7411554, RGD:7421510, RGD:7421514 NCBI chr 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10888
      Pendred syndrome 7
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        Neurologic Manifestations 10053
          sensory system disease 6962
            Otorhinolaryngologic Diseases 1740
              auditory system disease 994
                Hearing Disorders 821
                  Hearing Loss 816
                    sensorineural hearing loss 626
                      Pendred syndrome 7
paths to the root