loading...| Preferred Name | Familial Isolated Hyperparathyroidism | |
| Synonyms |
|
|
| Definitions |
A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors. |
|
| ID |
http://purl.obolibrary.org/obo/NCIT_C94830 |
|
| ALT_DEFINITION |
A rare inherited condition in which one or more tumors form in the parathyroid glands (four pea-sized organs found on the thyroid) and cause them to make too much parathyroid hormone. The increased parathyroid hormone causes a loss of calcium from the bones and too much calcium in the blood. Primary hyperparathyroidism of autosomal dominant or recessive inheritance, associated with mutation(s) in any of the following genes: MEN1 (encoding menin); CASR (extracellular calcium-sensing receptor); or CDC73 (parafibromin), although many cases have no identifiable mutation. |
|
| code |
C94830 |
|
| Contributing_Source |
NICHD |
|
| definition |
A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors. |
|
| in_subset | ||
| label |
Familial Isolated Hyperparathyroidism |
|
| NCI_META_CUI |
CL426666 |
|
| Preferred_Name |
Familial Isolated Hyperparathyroidism |
|
| prefixIRI |
NCIT:C94830 |
|
| prefLabel |
Familial Isolated Hyperparathyroidism |
|
| Related_To_Genetic_Biomarker | ||
| Semantic_Type |
Disease or Syndrome |
|
| subClassOf |