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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: 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
For additional species annotation, visit the Alliance of Genome Resources.



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    physical disorder 4194
      congenital hypothyroidism 229
        familial thyroid dyshormonogenesis 14
          thyroid dyshormonogenesis 6 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      Skin and Connective Tissue Diseases 6743
        connective tissue disease 5120
          bone disease 3800
            bone development disease 1875
              Dwarfism 739
                congenital hypothyroidism 229
                  familial thyroid dyshormonogenesis 14
                    thyroid dyshormonogenesis 6 1
paths to the root