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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 4
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Accession:DOID:0070123 term browser browse the term
Definition:A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has_material_basis_in homozygous mutation in the TSHB gene on chromosome 1p13. (DO)
Synonyms:exact_synonym: CHNG4;   deficiency of thyroid-stimulating hormone;   isolated thyrotropin deficiency;   pituitary cretinism
 narrow_synonym: pituitary cretinism thyrotropin, biologically inactive
 primary_id: OMIM:275100
 xref: ICD10CM:E03.1


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congenital nongoitrous hypothyroidism 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tshb thyroid stimulating hormone subunit beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pituitary cretinism		 OMIM
CTD
ClinVar		 PMID:1971148 PMID:2792087 PMID:8636437 PMID:9536098 PMID:9589689 More... NCBI chr 2:190,224,676...190,229,559
Ensembl chr 2:190,224,676...190,229,559 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    physical disorder 4964
      congenital hypothyroidism 234
        Congenital Nongoitrous Hypothyroidism 16
          congenital nongoitrous hypothyroidism 4 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      Skin and Connective Tissue Diseases 7520
        connective tissue disease 5786
          bone disease 4302
            bone development disease 2307
              Dwarfism 865
                congenital hypothyroidism 234
                  Congenital Nongoitrous Hypothyroidism 16
                    congenital nongoitrous hypothyroidism 4 1
paths to the root