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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 5
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Accession:DOID:0070125 term browser browse the term
Definition:A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35. (DO)
Synonyms:exact_synonym: CHNG5
 primary_id: MESH:C567123
 alt_id: OMIM:225250
 xref: ORDO:90673
For additional species annotation, visit the Alliance of Genome Resources.


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congenital nongoitrous hypothyroidism 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5 OMIM
ClinVar
PMID:10587520 PMID:10903346 PMID:11714651 PMID:14607454 PMID:16418214 PMID:17891434 PMID:19073351 PMID:19464101 PMID:19533775 PMID:19948535 PMID:20456451 PMID:20807224 PMID:23285148 PMID:23661673 PMID:24033266 PMID:24376681 PMID:25741868 PMID:28492532 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
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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 5 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 5 1
paths to the root