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familial hypocalciuric hypercalcemia

^ http://purl.obolibrary.org/obo/MONDO_0018458

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. [ Orphanet:405 ]

Term info

database cross reference
  • NCIT:C123262 (MONDO:equivalentTo)
  • OMIMPS:145980 (MONDO:equivalentTo)
  • SCTID:237885008 (MONDO:equivalentTo)
  • GARD:0010828 (MONDO:equivalentTo)
  • UMLS:C1809471 (Orphanet:405)
  • UMLS:C0342637 (MONDO:equivalentTo)
  • DOID:0060699 (MONDO:equivalentTo)
  • Orphanet:405 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
FBH [ Orphanet:405 DOID:0060699 ]

abbreviation
FBHH [ Orphanet:405 DOID:0060699 ]

abbreviation
FHH [ DOID:0060699 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://identifiers.org/snomedct/237885008, http://purl.obolibrary.org/obo/DOID_0060699, http://linkedlifedata.com/resource/umls/id/C0342637, https://omim.org/phenotypicSeries/PS145980, http://purl.obolibrary.org/obo/NCIT_C123262, http://linkedlifedata.com/resource/umls/id/C1809471, http://purl.obolibrary.org/obo/Orphanet_405

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019705

has exact synonym

familial benign hypercalcemia, familial benign hypocalciuric hypercalcemia

has related synonym

hypocalciuric hypercalcemia, FHH, FBHH, FBH

id

MONDO:0018458