Details of Disease

General Information of Disease (ID: DISQVMMW)

Disease Name Hypoparathyroidism, familial isolated, 2
Synonyms FIH2; hypoparathyroidism, familial isolated 2; hypoparathyroidism, familial isolated, 2
Disease Hierarchy
DIS85C84: Familial hypoparathyroidism
DISQVMMW: Hypoparathyroidism, familial isolated, 2
Disease Identifiers
MONDO ID
MONDO_0020798
UMLS CUI
C5394383
OMIM ID
618883
MedGen ID
1715177

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GCM2 OTSKNPTI Strong Autosomal recessive [1]
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References

1 Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism. Hum Mol Genet. 2010 May 15;19(10):2028-38. doi: 10.1093/hmg/ddq084. Epub 2010 Feb 27.