loading...| Preferred Name | Familial isolated hyperparathyroidism | |
| Synonyms |
FIHPT |
|
| Definitions |
A rare, hereditary, familial primary hyperparathyroidism disease characterized by primary hyperparathyroidism due to single or multiple parathyroid tumors in at least two first-degree relatives in the absence of evidence of other endocrine disorders, tumors and/or systemic manifestations. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_99879 |
|
| alternative_term |
FIHPT |
|
| definition |
A rare, hereditary, familial primary hyperparathyroidism disease characterized by primary hyperparathyroidism due to single or multiple parathyroid tumors in at least two first-degree relatives in the absence of evidence of other endocrine disorders, tumors and/or systemic manifestations. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=99879 |
|
| has_age_of_onset |
Adult |
|
| has_inheritance |
Autosomal dominant |
|
| hasDbXref |
UMLS:C4551961 OMIM:145000 ICD-11:5A51.0 OMIM:610071 OMIM:618883 MedDRA:10080773 MeSH:C564166 OMIM:600166 ICD-10:E21.0 OMIM:617343 |
|
| label |
Familial isolated hyperparathyroidism |
|
| notation |
ORPHA:99879 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_99879 |
|
| prefLabel |
Familial isolated hyperparathyroidism |
|
| present_in |
Worldwide AND has_cases/families_value : 100.0 (Family) Worldwide AND has_point_prevalence_range : Unknown |
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| treeView | ||
| subClassOf |