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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: Hypothyroidism, Congenital, due to Dyshormonogenesis, 6;   TDH6;   genetic defect in thyroid hormonogenesis 6
 narrow_synonym: nongoitrous euthyroid hyperthyrotropinemia
 primary_id: MESH:C564608
 alt_id: OMIM:607200
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:607200
ClinVar Annotator: match by term: Thyroid dyshormonogenesis 6
ClinVar Annotator: match by term: Nongoitrous Euthyroid Hyperthyrotropinemia
OMIM
ClinVar
PMID:12110737 PMID:16134168 PMID:16322276 PMID:16608528 PMID:17121535 PMID:18765513 PMID:19789206 PMID:20187165 PMID:20972728 PMID:21565790 PMID:21900383 PMID:23457309 PMID:24033266 PMID:24423310 PMID:25248169 PMID:25741868 PMID:25928756 PMID:26334177 PMID:26349762 PMID:26709262 PMID:26742565 PMID:26990548 PMID:27108200 PMID:27166716 PMID:27498126 PMID:27557340 PMID:27821020 PMID:28444304 PMID:28492532 PMID:28541007 PMID:28666341 PMID:29092890 PMID:30022773 PMID:30154845 PMID:30240412 PMID:31030636 NCBI chr 3:114,218,187...114,237,808
Ensembl chr 3:114,218,193...114,235,933
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    physical disorder 2917
      congenital hypothyroidism 46
        familial thyroid dyshormonogenesis 10
          thyroid dyshormonogenesis 6 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      Skin and Connective Tissue Diseases 4984
        connective tissue disease 3651
          bone disease 2997
            bone development disease 1326
              Dwarfism 488
                congenital hypothyroidism 46
                  familial thyroid dyshormonogenesis 10
                    thyroid dyshormonogenesis 6 1
paths to the root