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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 21126
    physical disorder 4953
      congenital hypothyroidism 233
        Congenital Nongoitrous Hypothyroidism 15
          congenital nongoitrous hypothyroidism 5 1
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      Skin and Connective Tissue Diseases 7437
        connective tissue disease 5762
          bone disease 4273
            bone development disease 2304
              Dwarfism 863
                congenital hypothyroidism 233
                  Congenital Nongoitrous Hypothyroidism 15
                    congenital nongoitrous hypothyroidism 5 1
paths to the root