You are using an outdated browser. Please upgrade your browser to improve your experience.
hypothyroidism due to TSH receptor mutations
Disease Summary
Associated Targets (2)
Tclin
1
Tbio
1
Mondo Description Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.
Uniprot Description A non-autoimmune condition characterized by resistance to thyroid-stimulating hormone (TSH) leading to increased levels of plasma TSH and low levels of thyroid hormone. It presents variable severity depending on the completeness of the defect. Most patients are euthyroid and asymptomatic, with a normal sized thyroid gland. Only a subset of patients develop hypothyroidism and present a hypoplastic thyroid gland.
Mondo Term and Equivalent IDs
MONDO:0010142: hypothyroidism due to TSH receptor mutations
Download Data for hypothyroidism due to TSH receptor mutations
data still loading...
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.
DOID:0070126
OMIM:275200
Orphanet:90673
UMLS:C3493776
UMLS:CN206435
MONDO:0010142
High level summary of knowledge for a disease, including descriptions and datasource references.