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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 5
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Accession:DOID:0070125 term browser browse the term
Definition:A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35. (DO)
Synonyms:exact_synonym: CHNG5
 primary_id: MESH:C567123
 alt_id: OMIM:225250
 xref: ORDO:90673


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      congenital hypothyroidism 234
        Congenital Nongoitrous Hypothyroidism 16
          congenital nongoitrous hypothyroidism 5 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Skin and Connective Tissue Diseases 7461
        connective tissue disease 5787
          bone disease 4302
            bone development disease 2307
              Dwarfism 865
                congenital hypothyroidism 234
                  Congenital Nongoitrous Hypothyroidism 16
                    congenital nongoitrous hypothyroidism 5 1
paths to the root