Physician Data Query

Last uploaded: August 28, 2024
Preferred Name

familial isolated hyperparathyroidism
Synonyms

familial hyperparathyroidism

FIHP

hyperparathyroidism, familial

Definitions

A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors.

ID

http://purl.bioontology.org/ontology/PDQ/CDR0000725385

altLabel

familial hyperparathyroidism

FIHP

hyperparathyroidism, familial

Associated disease

http://purl.bioontology.org/ontology/PDQ/CDR0000042957

http://purl.bioontology.org/ontology/PDQ/CDR0000042170

cui

C0271846

C4551961

DATE FIRST PUBLISHED

2012-02-13

Date last modified

2012-02-26

definition

A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors.

notation

CDR0000725385

ORIG STY

Genetic condition

prefLabel

familial isolated hyperparathyroidism

tui

T047

subClassOf

http://purl.bioontology.org/ontology/PDQ/CDR0000256156

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SCTSPA/237653008 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/786037006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/237653008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/RCD/X40KL RCD CUI
http://purl.bioontology.org/ontology/SNMI/DB-90130 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10080773 MEDDRA CUI
http://purl.bioontology.org/ontology/OMIM/613733 OMIM CUI
http://purl.bioontology.org/ontology/MDRFRE/10080773 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10080773 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/C564166 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/786037006 SCTSPA CUI
http://purl.bioontology.org/ontology/OMIM/145000 OMIM CUI
http://purl.obolibrary.org/obo/MONDO_0015027 MONDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/786037006 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/MEDDRA/10080773 MEDDRA LOOM
http://purl.obolibrary.org/obo/OMIM_145000 CCO LOOM
http://purl.obolibrary.org/obo/NCIT_C94830 BERO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_14452 HRDO LOOM
http://www.orpha.net/ORDO/Orphanet_99879 ORDO LOOM
http://purl.obolibrary.org/obo/MONDO_0015027 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0015027 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0015027 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0015027 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0015027 DOVES LOOM
http://identifiers.org/omim/145000 REXO LOOM
http://identifiers.org/omim/145000 GEXO LOOM
http://identifiers.org/omim/145000 RETO LOOM