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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:thyroid dyshormonogenesis 5
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Accession:DOID:0112184 term browser browse the term
Definition:A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOXA2 on chromosome 15q21.1. (DO)
Synonyms:exact_synonym: TDH5;   congenital hypothyroidism due to dyshormonogenesis, 5;   genetic defect in thyroid hormonogenesis 5
 primary_id: MESH:C562771
 alt_id: OMIM:274900
For additional species annotation, visit the Alliance of Genome Resources.


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thyroid dyshormonogenesis 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Duoxa2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by OMIM:274900
ClinVar Annotator: match by term: Thyroid dyshormonogenesis 5
OMIM
ClinVar
PMID:18042646 PMID:23292166 PMID:25741868 PMID:28492532 PMID:32860008 NCBI chr 3:114,236,718...114,240,086
Ensembl chr 3:114,236,718...114,240,086
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    physical disorder 2917
      congenital hypothyroidism 46
        familial thyroid dyshormonogenesis 10
          thyroid dyshormonogenesis 5 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      Skin and Connective Tissue Diseases 4984
        connective tissue disease 3651
          bone disease 2997
            bone development disease 1326
              Dwarfism 488
                congenital hypothyroidism 46
                  familial thyroid dyshormonogenesis 10
                    thyroid dyshormonogenesis 5 1
paths to the root