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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: TDH2A;   congenital hypothyroidism due to dyshormonogenesis 2A;   genetic defect in thyroid hormonogenesis 2A;   iodide peroxidase deficiency;   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 term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2A | ClinVar Annotator: match by term: IODIDE PEROXIDASE DEFICIENCY | ClinVar Annotator: match by term: THYROID PEROXIDASE DEFICIENCY | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 2A OMIM
ClinVar
PMID:1401057 PMID:7550241 PMID:8027236 PMID:8964831 PMID:9024270 More... NCBI chr 6:46,698,402...46,768,199
Ensembl chr 6:46,698,414...46,768,199
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    physical disorder 4045
      congenital hypothyroidism 229
        familial thyroid dyshormonogenesis 14
          thyroid dyshormonogenesis 2A 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      Skin and Connective Tissue Diseases 6546
        connective tissue disease 4899
          bone disease 3577
            bone development disease 1760
              Dwarfism 692
                congenital hypothyroidism 229
                  familial thyroid dyshormonogenesis 14
                    thyroid dyshormonogenesis 2A 1
paths to the root