Details of Disease

General Information of Disease (ID: DISAIGH7)

Disease Name Angioedema, hereditary, 7
Synonyms HAE7
Disease Hierarchy
DIS8X53J: Hereditary angioedema
DISAIGH7: Angioedema, hereditary, 7
Disease Identifiers
MONDO ID
MONDO_0025713
UMLS CUI
C5543526
OMIM ID
619366
MedGen ID
1784046

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
MYOF OTRFC3IJ Limited Unknown [1]
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References

1 A myoferlin gain-of-function variant associates with a new type of hereditary angioedema. Allergy. 2020 Nov;75(11):2989-2992. doi: 10.1111/all.14454. Epub 2020 Jul 1.