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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 9
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Accession:DOID:0111835 term browser browse the term
Definition:A congenital hypothyroidism characterized by a small thyroid gland with low free T4 levels and inappropriately normal levels of thyroid-stimulating hormone that has_material_basis_in hemizygous mutation in IRS4 on chromosome Xq22.3. (DO)
Synonyms:exact_synonym: CHNG9
 primary_id: OMIM:301035
For additional species annotation, visit the Alliance of Genome Resources.


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congenital nongoitrous hypothyroidism 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irs4 insulin receptor substrate 4 ISO ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9
ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 9
OMIM
ClinVar
PMID:25741868 PMID:30061370 NCBI chr  X:113,003,824...113,018,088 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    physical disorder 3071
      congenital hypothyroidism 51
        Congenital Nongoitrous Hypothyroidism 10
          congenital nongoitrous hypothyroidism 9 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      Skin and Connective Tissue Diseases 5810
        connective tissue disease 4420
          bone disease 3103
            bone development disease 1413
              Dwarfism 497
                congenital hypothyroidism 51
                  Congenital Nongoitrous Hypothyroidism 10
                    congenital nongoitrous hypothyroidism 9 1
paths to the root