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thyroid dyshormonogenesis 4
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 IYD gene.
Uniprot Description A disorder due to thyroid dyshormonogenesis, causing severe hypothyroidism, goiter, excessive levels of iodotyrosine in serum and urine, and variable mental deficits derived from unrecognized and untreated hypothyroidism.
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:C562770
OMIM:274800
SCTID:17885001
UMLS:C0342195
MONDO:0010136
High level summary of knowledge for a disease, including descriptions and datasource references.