loading...| Preferred Name | primary hyperparathyroidism | |
| Synonyms |
primary hyperparathyroidism primary hyperparathyroidism (disease) |
|
| Definitions |
Primary hyperparathyroidism is a common disorder in which parathyroid hormone is excessively secreted from one or more of the four parathyroid glands. Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_0008519 |
|
| database_cross_reference |
NCIT:C48280 MEDGEN:66354 SCTID:36348003 MeSH:D049950 SNOMEDCT:36348003 ICD9:252.01 ICD10:E21.0 MedDRA:10036693 NCIt:C48280 UMLS:C0221002 icd11.foundation:817194045 MESH:D049950 MONDO:0010837 OMIM:600166 DOID:11202 HP:0008200 ORDO:99878 |
|
| definition |
Primary hyperparathyroidism is a common disorder in which parathyroid hormone is excessively secreted from one or more of the four parathyroid glands. Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. |
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| definition_citation | ||
| gwas_trait |
true |
|
| has_exact_synonym |
primary hyperparathyroidism primary hyperparathyroidism (disease) |
|
| IAO_0000589 |
primary hyperparathyroidism (disease) |
|
| id |
EFO:0008519 |
|
| in_subset | ||
| label |
primary hyperparathyroidism |
|
| notation |
EFO:0008519 |
|
| preferred label |
primary hyperparathyroidism |
|
| prefLabel |
primary hyperparathyroidism |
|
| skos_exactMatch |
http://identifiers.org/medgen/66354 http://purl.obolibrary.org/obo/DOID_11202 http://identifiers.org/mesh/D049950 http://identifiers.org/snomedct/36348003 http://purl.obolibrary.org/obo/EFO_0008519 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/817194045 |
|
| term editor |
Laura Huerta |
|
| subClassOf |