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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 8
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Accession:DOID:0111837 term browser browse the term
Definition:A congenital hypothyroidism characterized by relatively mild central hypothyroidism that has_material_basis_in heterozygous or hemizygous mutation in the TBL1X gene on chromosome Xp22.3-p22.2. (DO)
Synonyms:exact_synonym: CHNG8
 primary_id: OMIM:301033
 xref: MONDO:0026731

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congenital nongoitrous hypothyroidism 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbl1x transducin beta like 1 X-linked ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 8 OMIM
ClinVar		 PMID:25741868 PMID:27603907 PMID:30591955 NCBI chrNW_004624834:7,086,348...7,281,974 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14102
    physical disorder 4599
      congenital hypothyroidism 212
        Congenital Nongoitrous Hypothyroidism 14
          congenital nongoitrous hypothyroidism 8 1
Path 2
Term Annotations click to browse term
  disease 14102
    disease of anatomical entity 13770
      Skin and Connective Tissue Diseases 6361
        connective tissue disease 4911
          bone disease 3621
            bone development disease 2143
              Dwarfism 787
                congenital hypothyroidism 212
                  Congenital Nongoitrous Hypothyroidism 14
                    congenital nongoitrous hypothyroidism 8 1
paths to the root