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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 17129
    physical disorder 3071
      congenital hypothyroidism 51
        Congenital Nongoitrous Hypothyroidism 10
          congenital nongoitrous hypothyroidism 2 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 2 1
paths to the root