loading...| Preferred Name |
familial hypocalciuric hypercalcemia |
|
| Synonyms |
familial benign hypocalciuric hypercalcemia familial benign hypercalcemia hypocalciuric hypercalcemia FBH FBHH FHH |
|
| Definitions |
Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0018458 |
|
| database_cross_reference |
NCIT:C123262 OMIMPS:145980 icd11.foundation:81374726 DOID:0060699 SCTID:237885008 GARD:10828 UMLS:C1809471 Orphanet:405 |
|
| definition |
Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration. |
|
| exactMatch |
http://linkedlifedata.com/resource/umls/id/C1809471 https://omim.org/phenotypicSeries/PS145980 http://purl.obolibrary.org/obo/DOID_0060699 http://purl.obolibrary.org/obo/Orphanet_405 |
|
| has_exact_synonym |
familial benign hypocalciuric hypercalcemia familial benign hypercalcemia |
|
| has_related_synonym |
hypocalciuric hypercalcemia FBH FBHH FHH |
|
| id |
MONDO:0018458 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#orphanet_rare |
|
| label |
familial hypocalciuric hypercalcemia |
|
| notation |
MONDO:0018458 |
|
| prefLabel |
familial hypocalciuric hypercalcemia |
|
| excluded_subClassOf | ||
| subClassOf |
http://www.ebi.ac.uk/efo/EFO_0001379 http://purl.obolibrary.org/obo/MONDO_0001566 |