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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 4
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Accession:DOID:0112188 term browser browse the term
Definition:A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in IYD on chromosome 6q25.1. (DO)
Synonyms:exact_synonym: Deiodinase Deficiency;   Hypothyroidism, Congenital, due to Dyshormonogenesis, 4;   TDH4;   genetic defect in thyroid hormonogenesis 4;   iodotyrosine dehalogenase deficiency
 primary_id: MESH:C562770
 alt_id: OMIM:274800


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thyroid dyshormonogenesis 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iyd iodotyrosine deiodinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DEIODINASE DEFICIENCY | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 4		 OMIM
CTD
ClinVar		 PMID:13183981 PMID:13333116 PMID:18434651 PMID:18765512 PMID:25741868 More... NCBI chr 1:40,003,999...40,019,323
Ensembl chr 1:40,004,041...40,019,319 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      congenital hypothyroidism 234
        familial thyroid dyshormonogenesis 14
          thyroid dyshormonogenesis 4 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Skin and Connective Tissue Diseases 7461
        connective tissue disease 5787
          bone disease 4302
            bone development disease 2307
              Dwarfism 865
                congenital hypothyroidism 234
                  familial thyroid dyshormonogenesis 14
                    thyroid dyshormonogenesis 4 1
paths to the root