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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:274800
ClinVar Annotator: match by term: Thyroid dyshormonogenesis 4
OMIM
ClinVar
PMID:13183981 PMID:13333116 PMID:18434651 PMID:18765512 PMID:25741868 NCBI chr 1:40,086,513...40,100,966
Ensembl chr 1:40,086,470...40,101,840
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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 4 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 4 1
paths to the root