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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:thyroid dyshormonogenesis 6
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Accession:DOID:0112189 term browser browse the term
Definition:A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOX2 on chromosome 15q21.1. (DO)
Synonyms:exact_synonym: DUOX2-RELATED CONDITION;   TDH6;   congenital hypothyroidism due to dyshormonogenesis 6;   genetic defect in thyroid hormonogenesis 6
 narrow_synonym: nongoitrous euthyroid hyperthyrotropinemia
 primary_id: MESH:C564608
 alt_id: OMIM:607200

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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
          thyroid dyshormonogenesis 6 1
Path 2
Term Annotations click to browse term
  disease 14102
    disease of anatomical entity 13770
      Skin and Connective Tissue Diseases 6361
        connective tissue disease 4911
          bone disease 3621
            bone development disease 2143
              Dwarfism 787
                congenital hypothyroidism 212
                  familial thyroid dyshormonogenesis 14
                    thyroid dyshormonogenesis 6 1
paths to the root