Details of Disease

General Information of Disease (ID: DISPBPEO)

Disease Name Autoimmune hypoparathyroidism
Synonyms autoimmune hypoparathyroidism; autoimmune hypoparathyroidism (disease)
Definition An autoimmune form of hypoparathyroidism.
Disease Hierarchy
DISICS0V: Hypoparathyroidism
DISTWCN9: Autoimmune disorder of endocrine system
DISPBPEO: Autoimmune hypoparathyroidism
Disease Identifiers
MONDO ID
MONDO_0018242
UMLS CUI
C0271865
MedGen ID
488838
HPO ID
HP:0011771
Orphanet ID
36913
SNOMED CT ID
75316000

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
NUDT11 OTFDXJA1 Definitive Biomarker [1]
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References

1 A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1.Am J Hum Genet. 1998 Dec;63(6):1675-84. doi: 10.1086/302145.