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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
 related_synonym: ectopic thyroid
 primary_id: MESH:C566852
 alt_id: OMIM:218700


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congenital nongoitrous hypothyroidism 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxo31 F-box protein 31 ISO ClinVar Annotator: match by term: Ectopic thyroid ClinVar PMID:32989326 PMID:33675180 NCBI chr19:49,624,813...49,656,052
Ensembl chr19:49,627,686...49,656,010 		JBrowse link
G Pax8 paired box 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia | ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 2		 OMIM
CTD
ClinVar		 PMID:9382140 PMID:9523167 PMID:9590296 PMID:11232006 PMID:11502839 More... NCBI chr 3:7,185,721...7,242,363
Ensembl chr 3:7,185,723...7,242,363 		JBrowse link
G Ttf1 transcription termination factor 1 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 2 ClinVar PMID:25741868 NCBI chr 3:12,384,626...12,409,257
Ensembl chr 3:12,384,655...12,409,257 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    physical disorder 4964
      congenital hypothyroidism 234
        Congenital Nongoitrous Hypothyroidism 16
          congenital nongoitrous hypothyroidism 2 3
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      Skin and Connective Tissue Diseases 7520
        connective tissue disease 5786
          bone disease 4302
            bone development disease 2307
              Dwarfism 865
                congenital hypothyroidism 234
                  Congenital Nongoitrous Hypothyroidism 16
                    congenital nongoitrous hypothyroidism 2 3
paths to the root