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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 2A
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Accession:DOID:0112186 term browser browse the term
Definition:A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TPO on chromosome 2p25.3. (DO)
Synonyms:exact_synonym: Hypothyroidism, Congenital, due to Dyshormonogenesis, 2A;   Iodide Peroxidase Deficiency;   TDH2A;   genetic defect in thyroid hormonogenesis 2A;   thyroid peroxidase deficiency
 primary_id: MESH:C563206
 alt_id: OMIM:274500
For additional species annotation, visit the Alliance of Genome Resources.


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thyroid dyshormonogenesis 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpo thyroid peroxidase ISO ClinVar Annotator: match by OMIM:274500
ClinVar Annotator: match by term: THYROID PEROXIDASE DEFICIENCY
ClinVar Annotator: match by term: IODIDE PEROXIDASE DEFICIENCY
OMIM
ClinVar
PMID:1401057 PMID:7550241 PMID:8027236 PMID:8964831 PMID:9024270 PMID:9814507 PMID:10084596 PMID:10468986 PMID:11061528 PMID:11238503 PMID:11916616 PMID:12213873 PMID:12843174 PMID:14751036 PMID:15055360 PMID:15279913 PMID:15745925 PMID:16684826 PMID:17468186 PMID:18029453 PMID:23236987 PMID:23512414 PMID:24482635 PMID:24790296 PMID:25241611 PMID:25741868 PMID:26565538 PMID:27373559 PMID:27525530 PMID:27617131 PMID:28492532 PMID:30240412 NCBI chr 6:49,020,918...49,089,855
Ensembl chr 6:49,021,044...49,089,855
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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 2A 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 2A 1
paths to the root