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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 16058
    syndrome 6996
      hypothyroidism 155
        congenital hypothyroidism 46
          Congenital Nongoitrous Hypothyroidism 10
            congenital nongoitrous hypothyroidism 6 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      musculoskeletal system disease 5739
        connective tissue disease 4099
          bone disease 3528
            bone development disease 1335
              Dwarfism 493
                congenital hypothyroidism 46
                  Congenital Nongoitrous Hypothyroidism 10
                    congenital nongoitrous hypothyroidism 6 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.