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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:congenital nongoitrous hypothyroidism 3
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Accession:DOID:0070127 term browser browse the term
Definition:A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has_material_basis_in variation in the chromosome region 15q25.3-q26.1. (DO)
Synonyms:exact_synonym: CHNG3
 primary_id: MESH:C567935
 alt_id: OMIM:609893



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    physical disorder 4937
      congenital hypothyroidism 232
        Congenital Nongoitrous Hypothyroidism 15
          congenital nongoitrous hypothyroidism 3 0
Path 2
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      Skin and Connective Tissue Diseases 7401
        connective tissue disease 5729
          bone disease 4242
            bone development disease 2280
              Dwarfism 842
                congenital hypothyroidism 232
                  Congenital Nongoitrous Hypothyroidism 15
                    congenital nongoitrous hypothyroidism 3 0
paths to the root