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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 2A
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Accession:DOID:0112186 term browser browse the term
Definition:A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TPO on chromosome 2p25.3. (DO)
Synonyms:exact_synonym: TDH2A;   congenital hypothyroidism due to dyshormonogenesis 2A;   genetic defect in thyroid hormonogenesis 2A;   iodide peroxidase deficiency;   thyroid peroxidase deficiency
 primary_id: MESH:C563206
 alt_id: OMIM:274500

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Path 1
Term Annotations click to browse term
  disease 14102
    physical disorder 4599
      congenital hypothyroidism 212
        familial thyroid dyshormonogenesis 14
          thyroid dyshormonogenesis 2A 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 2A 1
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