Preferred Name | familial isolated hyperparathyroidism | |
Synonyms |
familial hyperparathyroidism FIHP hyperparathyroidism, familial |
|
Definitions |
A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors. |
|
ID |
http://purl.bioontology.org/ontology/PDQ/CDR0000725385 |
|
altLabel |
familial hyperparathyroidism FIHP hyperparathyroidism, familial |
|
Associated disease | ||
cui |
C0271846 C4551961 |
|
DATE FIRST PUBLISHED |
2012-02-13 |
|
Date last modified |
2012-02-26 |
|
definition |
A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors. |
|
notation |
CDR0000725385 |
|
ORIG STY |
Genetic condition |
|
prefLabel |
familial isolated hyperparathyroidism |
|
tui |
T047 |
|
subClassOf |
Create mapping