Details of Disease

General Information of Disease (ID: DISILUOD)

Disease Name BDV syndrome
Disease Hierarchy
DISYKSRF: Genetic disease
DISILUOD: BDV syndrome
Disease Identifiers
MONDO ID
MONDO_0859150
UMLS CUI
C5543403
OMIM ID
619326
MedGen ID
1785671

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CPE TTXPWO6 Strong Autosomal recessive [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CPE OTXNTV79 Strong Autosomal recessive [1]
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References

1 Missense polymorphism in the human carboxypeptidase E gene alters enzymatic activity. Hum Mutat. 2001 Aug;18(2):120-31. doi: 10.1002/humu.1161.