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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 1
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Accession:DOID:0112185 term browser browse the term
Definition:A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in SLC5A5 on chromosome 19p13.11. (DO)
Synonyms:exact_synonym: Hypothyroidism, Congenital, due to Dyshormonogenesis, 1;   TDH1;   genetic defect in thyroid hormonogenesis 1;   iodide accumulation, transport, or trapping defect;   iodine accumulation, transport, or trapping defect
 primary_id: MESH:C564766
 alt_id: OMIM:274400
For additional species annotation, visit the Alliance of Genome Resources.


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thyroid dyshormonogenesis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc5a5 solute carrier family 5 member 5 ISO ClinVar Annotator: match by OMIM:274400
ClinVar Annotator: match by term: Thyroid dyshormonogenesis 1
OMIM
ClinVar
PMID:3451231 PMID:3998954 PMID:9171822 PMID:9388506 PMID:9398697 PMID:9486973 PMID:9657379 PMID:9709973 PMID:9745458 PMID:9814502 PMID:10487695 PMID:10902780 PMID:12161518 PMID:21565787 PMID:25525159 PMID:25741868 PMID:28492532 NCBI chr16:20,297,414...20,307,401
Ensembl chr16:20,297,414...20,307,400
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    physical disorder 2958
      congenital hypothyroidism 47
        familial thyroid dyshormonogenesis 10
          thyroid dyshormonogenesis 1 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      Skin and Connective Tissue Diseases 5625
        connective tissue disease 4355
          bone disease 3040
            bone development disease 1371
              Dwarfism 489
                congenital hypothyroidism 47
                  familial thyroid dyshormonogenesis 10
                    thyroid dyshormonogenesis 1 1
paths to the root