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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;   SLC5A5-RELATED CONDITION;   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


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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 term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1 | ClinVar Annotator: match by term: IODINE ACCUMULATION, TRANSPORT, OR TRAPPING DEFECT | ClinVar Annotator: match by term: SLC5A5-related condition | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1 OMIM
ClinVar		 PMID:3998954 PMID:9171822 PMID:9388506 PMID:9398697 PMID:9486973 More... NCBI chr20:45,017,939...45,030,598
Ensembl chr20:45,018,119...45,030,209 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    physical disorder 4881
      congenital hypothyroidism 222
        familial thyroid dyshormonogenesis 14
          thyroid dyshormonogenesis 1 1
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15149
      Skin and Connective Tissue Diseases 6803
        connective tissue disease 5282
          bone disease 3828
            bone development disease 2275
              Dwarfism 848
                congenital hypothyroidism 222
                  familial thyroid dyshormonogenesis 14
                    thyroid dyshormonogenesis 1 1
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