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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital nongoitrous hypothyroidism 6
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Accession:DOID:0070128 term browser browse the term
Definition:A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the THRA gene on chromosome 17q21.1. (DO)
Synonyms:exact_synonym: CHNG6
 primary_id: OMIM:614450
 alt_id: RDO:9000469
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congenital nongoitrous hypothyroidism 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nr1d1 nuclear receptor subfamily 1, group D, member 1 JBrowse link 10 86,683,875 86,690,815 RGD:8554872
G Thra thyroid hormone receptor alpha JBrowse link 10 86,657,285 86,684,935 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      hypothyroidism 140
        congenital hypothyroidism 46
          Congenital Nongoitrous Hypothyroidism 10
            congenital nongoitrous hypothyroidism 6 2
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              Dwarfism 308
                congenital hypothyroidism 46
                  Congenital Nongoitrous Hypothyroidism 10
                    congenital nongoitrous hypothyroidism 6 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.