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Hereditary hypoparathyroidism

MedGen UID:
1842344
Concept ID:
C5680825
Disease or Syndrome
Synonym: Genetic hypoparathyroidism
 
Monarch Initiative: MONDO:0016165
Orphanet: ORPHA208593

Definition

An instance of hypoparathyroidism that is caused by an inherited genomic modification in an individual. [from MONDO]

Term Hierarchy

Professional guidelines

PubMed

Bjørklund G, Pivin M, Hangan T, Yurkovskaya O, Pivina L
Autoimmun Rev 2022 Aug;21(8):103135. Epub 2022 Jun 9 doi: 10.1016/j.autrev.2022.103135. PMID: 35690244
Wang Y, Nie M, Wang O, Li Y, Jiang Y, Li M, Xia W, Xing X
J Bone Miner Res 2019 Dec;34(12):2254-2263. Epub 2019 Nov 13 doi: 10.1002/jbmr.3854. PMID: 31433868
Massoll N, Mazzaferri EL
Clin Lab Med 2004 Mar;24(1):49-83. doi: 10.1016/j.cll.2004.01.006. PMID: 15157557

Recent clinical studies

Diagnosis

Riesenberg K, Pick N, Levy I, Borer A, Schlaeffer F
Isr Med Assoc J 1999 Nov;1(3):194-5. PMID: 10731334

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