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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


show annotations for term's descendants           Sort by:
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 chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902 		JBrowse link
G Slc5a5 solute carrier family 5 member 5 ISO ClinVar Annotator: match by term: Thyroid Hormonogenesis Defect ClinVar NCBI chr16:18,546,709...18,556,698
Ensembl chr16:18,546,709...18,556,697 		JBrowse link
G Tg thyroglobulin ISO ClinVar Annotator: match by term: Thyroid dyshormonogenesis ClinVar PMID:28492532 NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210 		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 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		 DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
OMIM:274600
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
CTD
MouseDO
ClinVar
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
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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3998954 PMID:9171822 PMID:9388506 PMID:9398697 PMID:9486973 More... NCBI chr16:18,546,709...18,556,698
Ensembl chr16:18,546,709...18,556,697 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1401057 PMID:7550241 PMID:8027236 PMID:8964831 PMID:9024270 More... NCBI chr 6:46,698,402...46,768,199
Ensembl chr 6:46,698,414...46,768,199 		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 chr 7:98,534,431...98,584,810
Ensembl chr 7:98,535,368...98,584,648 		JBrowse link
G Tg thyroglobulin ISO CTD Direct Evidence: marker/mechanism
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		 CTD
ClinVar
OMIM		 PMID:1752952 PMID:2584351 PMID:7593451 PMID:8094490 PMID:8325944 More... NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:13183981 PMID:13333116 PMID:18434651 PMID:18765512 PMID:25741868 More... NCBI chr 1:40,003,999...40,019,323
Ensembl chr 1:40,004,041...40,019,319 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18042646 PMID:23292166 PMID:25675383 PMID:25741868 PMID:28492532 More... NCBI chr 3:109,245,337...109,249,055
Ensembl chr 3:109,245,476...109,248,968 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DUOX2-related condition | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 6		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:12110737 PMID:16134168 PMID:16199547 PMID:16322276 More... NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      congenital hypothyroidism 234
        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 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        connective tissue disease 5786
          bone disease 4302
            bone development disease 2307
              Dwarfism 865
                congenital hypothyroidism 234
                  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