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