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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 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


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congenital nongoitrous hypothyroidism 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NR1D1 nuclear receptor subfamily 1 group D member 1 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 6 ClinVar PMID:11075809 PMID:25741868 PMID:34008892 NCBI chr 9:22,461,556...22,469,243
Ensembl chr 9:22,461,705...22,469,053 		JBrowse link
G THRA thyroid hormone receptor alpha ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 6 OMIM
ClinVar		 PMID:11075809 PMID:22168587 PMID:22494134 PMID:24969835 PMID:25326635 More... NCBI chr 9:22,469,466...22,493,445
Ensembl chr 9:22,468,594...22,493,445 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    physical disorder 4881
      congenital hypothyroidism 222
        Congenital Nongoitrous Hypothyroidism 13
          congenital nongoitrous hypothyroidism 6 2
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15149
      Skin and Connective Tissue Diseases 6803
        connective tissue disease 5282
          bone disease 3828
            bone development disease 2275
              Dwarfism 848
                congenital hypothyroidism 222
                  Congenital Nongoitrous Hypothyroidism 13
                    congenital nongoitrous hypothyroidism 6 2
paths to the root