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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: Deafness with goiter;   Goiter-deafness syndrome;   PDS;   Pendred's Syndrome;   TDH2B;   autosomal recessive sensorineural hearing impairment and goiter;   congenital hypothyroidism due to dyshormonogenesis, 2B;   genetic defect in thyroid hormonogenesis 2B;   thyroid dyshormonogenesis 2B
 broad_synonym: SLC26A4-related disorder
 primary_id: MESH:C536648
 alt_id: OMIM:274600
 xref: GARD:4271;   ICD10CM:E07.1;   NCI:C121745;   ORDO:705
For additional species annotation, visit the Alliance of Genome Resources.


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Pendred syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxi1 forkhead box I1 ISO ClinVar Annotator: match by OMIM:274600
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17503324 NCBI chr10:19,160,566...19,164,505
Ensembl chr10:19,160,582...19,164,505
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO ClinVar Annotator: match by OMIM:274600
ClinVar Annotator: match by term: Pendred's syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:23869231, PMID:25741868, PMID:27677466, PMID:27875746, PMID:28492532 NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Pendred's syndrome
ClinVar Annotator: match by term: Pendred syndrome
ClinVar Annotator: match by term: Goiter-deafness syndrome
ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2B
ClinVar Annotator: match by OMIM:274600
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
OMIM
ClinVar
CTD
PMID:2422447, PMID:8541853, PMID:8630498, PMID:9070918, PMID:9398842, PMID:9500541, PMID:9604973, PMID:9618166, PMID:9618167, PMID:9920104, PMID:10190331, PMID:10571950, PMID:10602116, PMID:10644529, PMID:10700480, PMID:10718825, PMID:10861298, PMID:10874637, PMID:10878664, PMID:10902795, PMID:11317356, PMID:11375792, PMID:11405873, PMID:11502831, PMID:11700190, PMID:11716048, PMID:11748854, PMID:11919333, PMID:11932316, PMID:12112665, PMID:12354788, PMID:12642503, PMID:12676893, PMID:12788906, PMID:12920581, PMID:12974744, PMID:14508505, PMID:14679580, PMID:14715652, PMID:15099345, PMID:15279074, PMID:15355436, PMID:15531480, PMID:15574297, PMID:15611902, PMID:15679828, PMID:15689455, PMID:15720248, PMID:15747138, PMID:15811013, PMID:15933521, PMID:16053392, PMID:16275403, PMID:16283880, PMID:16460646, PMID:16482981, PMID:16570074, PMID:16684826, PMID:16711435, PMID:16773579, PMID:16791000, PMID:16914891, PMID:16924389, PMID:16950989, PMID:16952406, PMID:17146393, PMID:17309986, PMID:17322586, PMID:17357124, PMID:17443271, PMID:17503324, PMID:17697873, PMID:17718863, PMID:17766716, PMID:17851929, PMID:17876604, PMID:17940114, PMID:18075246, PMID:18167283, PMID:18250610, PMID:18274916, PMID:18283249, PMID:18285825, PMID:18310264, PMID:18322141, PMID:18427006, PMID:18585793, PMID:18641518, PMID:18813951, PMID:18988928, PMID:19017801, PMID:19040761, PMID:19169484, PMID:19199245, PMID:19204907, PMID:19287372, PMID:19318451, PMID:19426954, PMID:19429184, PMID:19509082, PMID:19565036, PMID:19578036, PMID:19608655, PMID:19615760, PMID:19620588, PMID:19645628, PMID:19648736, PMID:19718752, PMID:19744334, PMID:19786220, PMID:19787632, PMID:19888295, PMID:20128824, PMID:20137612, PMID:20146813, PMID:20301640, PMID:20553101, PMID:20583162, PMID:20597900, PMID:20601923, PMID:20621367, PMID:20668687, PMID:20826203, PMID:20842945, PMID:20981092, PMID:21045265, PMID:21154317, PMID:21366435, PMID:21551164, PMID:21557232, PMID:21704276, PMID:21811566, PMID:21961810, PMID:22116358, PMID:22116359, PMID:22116360, PMID:22285650, PMID:22289209, PMID:22384008, PMID:22389666, PMID:22412181, PMID:22717225, PMID:22796198, PMID:22884721, PMID:22903915, PMID:22975760, PMID:23151025, PMID:23151031, PMID:23185506, PMID:23208854, PMID:23266159, PMID:23273637, PMID:23280318, PMID:23296490, PMID:23336812, PMID:23385134, PMID:23401162, PMID:23504402, PMID:23555729, PMID:23617710, PMID:23638949, PMID:23705809, PMID:23718755, PMID:23770805, PMID:23838540, PMID:23918157, PMID:23958391, PMID:23965030, PMID:23967202, PMID:23980138, PMID:24007330, PMID:24033266, PMID:24051746, PMID:24105851, PMID:24156272, PMID:24224479, PMID:24248179, PMID:24338212, PMID:24341454, PMID:24599119, PMID:24612839, PMID:24804242, PMID:24860705, PMID:24875928, PMID:24913939, PMID:24949729, PMID:25015771, PMID:25149764, PMID:25262649, PMID:25266519, PMID:25290043, PMID:25358692, PMID:25372295, PMID:25373420, PMID:25394566, PMID:25468468, PMID:25488846, PMID:25491636, PMID:25525159, PMID:25724631, PMID:25741868, PMID:25761933, PMID:25788563, PMID:25910213, PMID:25991456, PMID:25999548, PMID:26022370, PMID:26035154, PMID:26100058, PMID:26188157, PMID:26226137, PMID:26252218, PMID:26346818, PMID:26397989, PMID:26445815, PMID:26467025, PMID:26485571, PMID:26549381, PMID:26683941, PMID:26744121, PMID:26752218, PMID:26763877, PMID:26764160, PMID:26886089, PMID:26894580, PMID:26969326, PMID:27068579, PMID:27090054, PMID:27214836, PMID:27240500, PMID:27247933, PMID:27344577, PMID:27373559, PMID:27541434, PMID:27573290, PMID:27771369, PMID:27792752, PMID:27861301, PMID:27863619, PMID:27884173, PMID:28000701, PMID:28273078, PMID:28281779, PMID:28389359, PMID:28444304, PMID:28492532, PMID:28604962, PMID:28717060, PMID:28786104, PMID:28901477, PMID:28964290, PMID:28984810, PMID:29048421, PMID:29196752, PMID:29293505, PMID:29372807, PMID:29546359, PMID:29739340, PMID:30068397, PMID:30077349, PMID:30139988, PMID:30240412, PMID:30245029, PMID:30268946, PMID:30311386, PMID:30484383, PMID:30622556, PMID:30693673, PMID:30760291, PMID:31599023, PMID:11152663, PMID:14508505, PMID:15355436 RGD:7411554, RGD:7421510, RGD:7421514 NCBI chr 6:50,809,103...50,848,443
Ensembl chr 6:50,808,923...50,846,965
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Pendred syndrome 3
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          Otorhinolaryngologic Diseases 1190
            auditory system disease 754
              Hearing Disorders 614
                Hearing Loss 609
                  sensorineural hearing loss 489
                    Pendred syndrome 3
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.