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Experimental Factor Ontology
| Preferred Name | familial isolated hyperparathyroidism | |
| Synonyms |
familial isolated hyperparathyroidism FIHP FIHPT |
|
| 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/MONDO_0015027 |
|
| database_cross_reference |
Orphanet:99879 UMLS:C4551961 NCIT:C94830 icd11.foundation:1799621215 MEDGEN:1643161 GARD:16923
|
|
| definition |
A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors.
|
|
| exactMatch |
http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1799621215 http://linkedlifedata.com/resource/umls/id/C4551961 http://identifiers.org/medgen/1643161 |
|
| has_exact_synonym |
familial isolated hyperparathyroidism FIHP FIHPT
|
|
| id |
MONDO:0015027
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
familial isolated hyperparathyroidism
|
|
| notation |
MONDO:0015027
|
|
| preferred label |
familial isolated hyperparathyroidism
|
|
| prefLabel |
familial isolated hyperparathyroidism
|
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| subClassOf |
| Delete | Subject | Author | Type | Created |
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