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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:dystransthyretinemic hyperthyroxinemia
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Accession:DOID:0080219 term browser browse the term
Definition:A hyperthyroxinemia that is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals and that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12. (DO)
Synonyms:exact_synonym: DTTRH;   dysprealbuminemic hyperthyroxinemia;   dystransthyretinemic euthyroidal hyperthyroxinemia;   euthryroidal hyperthyroxinemia 2
 primary_id: MESH:C567719
 alt_id: OMIM:145680
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 16108
    disease of anatomical entity 15356
      endocrine system disease 4988
        thyroid gland disease 367
          hyperthyroxinemia 7
            dystransthyretinemic hyperthyroxinemia 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal dominant disease 2996
                dystransthyretinemic hyperthyroxinemia 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.