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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 2
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Accession:DOID:0070124 term browser browse the term
Definition:A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13. (DO)
Synonyms:exact_synonym: Athyreotic Hypothyroidism;   CHNG2;   congenital hypothyroidism due to thyroid dysgenesis;   congenital hypothyroidism due to thyroid dysgenesis or hypoplasia;   ectopic thyroid
 primary_id: MESH:C566852
 alt_id: OMIM:218700
For additional species annotation, visit the Alliance of Genome Resources.


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congenital nongoitrous hypothyroidism 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax8 paired box 8 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 2
ClinVar Annotator: match by term: Thyroid, ectopic
OMIM
ClinVar
PMID:9382140, PMID:9523167, PMID:9590296, PMID:11232006, PMID:11502839, PMID:12116225, PMID:15356023, PMID:15718293, PMID:17437516, PMID:17980011, PMID:20302910, PMID:23647375, PMID:25741868, PMID:28060725, PMID:28492532 NCBI chr 3:1,527,316...1,586,019
Ensembl chr 3:1,527,279...1,584,946
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        Congenital Abnormalities 4759
          thyroid malformation 1
            congenital nongoitrous hypothyroidism 2 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      Skin and Connective Tissue Diseases 5471
        connective tissue disease 4096
          bone disease 3526
            bone development disease 1336
              Dwarfism 494
                congenital hypothyroidism 46
                  Congenital Nongoitrous Hypothyroidism 10
                    congenital nongoitrous hypothyroidism 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.