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familial isolated hyperparathyroidism
Disease Summary
Associated Targets (3)
Tbio
2
Tchem
1
GARD Rare
Mondo Description A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors.
Download Data for familial isolated hyperparathyroidism
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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.
This disease has been annotated by GARD as a rare disease.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
NCIT:C94830
Orphanet:99879
UMLS:CN207422
MONDO:0015027
High level summary of knowledge for a disease, including descriptions and datasource references.