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thyroid dyshormonogenesis 3
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the TG gene.
Uniprot Description A disorder due to thyroid dyshormonogenesis, causing large goiters of elastic and soft consistency in the majority of patients. Although the degree of thyroid dysfunction varies considerably among patients with defective thyroglobulin synthesis, patients usually have a relatively high serum free triiodothyronine (T3) concentration with disproportionately low free tetraiodothyronine (T4) level. The maintenance of relatively high free T3 levels prevents profound tissue hypothyroidism except in brain and pituitary, which are dependent on T4 supply, resulting in neurologic and intellectual defects in some cases.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
MESH:C562769
OMIM:274700
SCTID:23536000
UMLS:C0342194
MONDO:0010135
High level summary of knowledge for a disease, including descriptions and datasource references.