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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 TBL1X on chromosome Xp22.3-p22.2. (DO)
Synonyms:exact_synonym: CHNG8
 primary_id: OMIM:301033
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr  X:41,574,558...41,731,117
Ensembl chr  X:41,576,047...41,731,101
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    physical disorder 3086
      congenital hypothyroidism 51
        Congenital Nongoitrous Hypothyroidism 10
          congenital nongoitrous hypothyroidism 8 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      Skin and Connective Tissue Diseases 5811
        connective tissue disease 4420
          bone disease 3106
            bone development disease 1414
              Dwarfism 495
                congenital hypothyroidism 51
                  Congenital Nongoitrous Hypothyroidism 10
                    congenital nongoitrous hypothyroidism 8 1
paths to the root