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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
 alt_id: RDO:9000469
For additional species annotation, visit the Alliance of Genome Resources.


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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 NCBI chr10:86,683,875...86,690,815
Ensembl chr10:86,683,875...86,690,815
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:25326635 PMID:25670821 PMID:25741868 PMID:28492532 NCBI chr10:86,657,285...86,684,935
Ensembl chr10:86,657,285...86,684,933
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    physical disorder 2479
      congenital hypothyroidism 46
        Congenital Nongoitrous Hypothyroidism 10
          congenital nongoitrous hypothyroidism 6 2
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      Skin and Connective Tissue Diseases 4954
        connective tissue disease 3626
          bone disease 2987
            bone development disease 1312
              Dwarfism 486
                congenital hypothyroidism 46
                  Congenital Nongoitrous Hypothyroidism 10
                    congenital nongoitrous hypothyroidism 6 2
paths to the root