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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:familial thyroid dyshormonogenesis
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Accession:DOID:0112183 term browser browse the term
Definition:A congenital hypothyroidism characterized by thyroid hormone deficiency that is present from birth and results from defects in thyroid hormone synthesis. (DO)
Synonyms:exact_synonym: Thyroid Dyshormonogenesis;   dyshormogenetic goiter;   thyroid hormonogenesis defect
 xref: ORDO:95716

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familial thyroid dyshormonogenesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Familial thyroid dyshormonogenesis ClinVar PMID:12110737 PMID:16199547 PMID:16322276 PMID:18765513 PMID:20972728 More... NCBI chrNW_004624731:14,121,855...14,139,344
Ensembl chrNW_004624731:14,122,608...14,138,121 		JBrowse link
G Slc5a5 solute carrier family 5 member 5 ISO ClinVar Annotator: match by term: Thyroid Hormonogenesis Defect ClinVar NCBI chrNW_004624908:1,401,812...1,410,471
Ensembl chrNW_004624908:1,401,829...1,409,538 		JBrowse link
G Tg thyroglobulin ISO ClinVar Annotator: match by term: Thyroid dyshormonogenesis ClinVar PMID:28492532 NCBI chrNW_004624735:22,864,373...23,083,457
Ensembl chrNW_004624735:22,862,443...23,083,475 		JBrowse link
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_004624824:757,962...759,818
Ensembl chrNW_004624824:758,662...759,315 		JBrowse link
G Diaph1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 NCBI chrNW_004624774:738,717...845,187
Ensembl chrNW_004624774:739,206...845,272 		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_004624733:19,860,586...19,864,522
Ensembl chrNW_004624733:19,859,972...19,864,359 		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 chrNW_004624794:1,180,822...1,211,781
Ensembl chrNW_004624794:1,180,834...1,212,456 		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_004624863:205,468...283,840
Ensembl chrNW_004624863:205,478...283,839 		JBrowse link
G Otof otoferlin ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 NCBI chrNW_004624738:8,599,815...8,690,382
Ensembl chrNW_004624738:8,599,544...8,690,412 		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 chrNW_004624739:22,047,771...22,100,130
Ensembl chrNW_004624739:22,047,704...22,100,154 		JBrowse link
thyroid dyshormonogenesis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc5a5 solute carrier family 5 member 5 ISO ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1 | ClinVar Annotator: match by term: IODINE ACCUMULATION, TRANSPORT, OR TRAPPING DEFECT | ClinVar Annotator: match by term: SLC5A5-related condition | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1 OMIM
ClinVar		 PMID:3998954 PMID:9171822 PMID:9388506 PMID:9398697 PMID:9486973 More... NCBI chrNW_004624908:1,401,812...1,410,471
Ensembl chrNW_004624908:1,401,829...1,409,538 		JBrowse link
thyroid dyshormonogenesis 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpo thyroid peroxidase ISO ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2A | ClinVar Annotator: match by term: THYROID PEROXIDASE DEFICIENCY | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 2A OMIM
ClinVar		 PMID:1401057 PMID:7550241 PMID:8027236 PMID:8964831 PMID:9024270 More... NCBI chrNW_004624846:1,934,084...1,962,637
Ensembl chrNW_004624846:1,934,469...1,961,291 		JBrowse link
thyroid dyshormonogenesis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sla Src like adaptor ISO ClinVar Annotator: match by term: TG-related condition | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624735:22,929,467...22,949,471
Ensembl chrNW_004624735:22,892,713...22,950,355 		JBrowse link
G Tg thyroglobulin ISO ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 3 | ClinVar Annotator: match by term: TG-related condition | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3 OMIM
ClinVar		 PMID:1752952 PMID:2584351 PMID:7593451 PMID:8094490 PMID:8325944 More... NCBI chrNW_004624735:22,864,373...23,083,457
Ensembl chrNW_004624735:22,862,443...23,083,475 		JBrowse link
thyroid dyshormonogenesis 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iyd iodotyrosine deiodinase ISO ClinVar Annotator: match by term: DEIODINASE DEFICIENCY | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 4 OMIM
ClinVar		 PMID:13183981 PMID:13333116 PMID:18434651 PMID:18765512 PMID:25741868 More... NCBI chrNW_004624785:7,799,975...7,824,611
Ensembl chrNW_004624785:7,800,408...7,824,647 		JBrowse link
thyroid dyshormonogenesis 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Duoxa2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Thyroid dyshormonogenesis 5 OMIM
ClinVar		 PMID:18042646 PMID:23292166 PMID:25675383 PMID:25741868 PMID:28492532 More... NCBI chrNW_004624731:14,118,526...14,121,811
Ensembl chrNW_004624731:14,118,426...14,121,928 		JBrowse link
thyroid dyshormonogenesis 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: DUOX2-related condition | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 6 OMIM
ClinVar		 PMID:9536098 PMID:12110737 PMID:16134168 PMID:16199547 PMID:16322276 More... NCBI chrNW_004624731:14,121,855...14,139,344
Ensembl chrNW_004624731:14,122,608...14,138,121 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14102
    physical disorder 4599
      congenital hypothyroidism 212
        familial thyroid dyshormonogenesis 14
          Pendred syndrome 7
          thyroid dyshormonogenesis 1 1
          thyroid dyshormonogenesis 2A 1
          thyroid dyshormonogenesis 3 2
          thyroid dyshormonogenesis 4 1
          thyroid dyshormonogenesis 5 1
          thyroid dyshormonogenesis 6 1
Path 2
Term Annotations click to browse term
  disease 14102
    disease of anatomical entity 13770
      musculoskeletal system disease 7235
        connective tissue disease 4911
          bone disease 3621
            bone development disease 2143
              Dwarfism 787
                congenital hypothyroidism 212
                  familial thyroid dyshormonogenesis 14
                    Pendred syndrome 7
                    thyroid dyshormonogenesis 1 1
                    thyroid dyshormonogenesis 2A 1
                    thyroid dyshormonogenesis 3 2
                    thyroid dyshormonogenesis 4 1
                    thyroid dyshormonogenesis 5 1
                    thyroid dyshormonogenesis 6 1
paths to the root