Details of Disease

General Information of Disease (ID: DISKB93L)

Disease Name Vitamin D-dependent rickets, type 3
Synonyms VDDR3
Disease Hierarchy
DISYKSRF: Genetic disease
DISC3UAJ: Vitamin D-dependent rickets
DISKB93L: Vitamin D-dependent rickets, type 3
Disease Identifiers
MONDO ID
MONDO_0033640
UMLS CUI
C5436733
OMIM ID
619073
MedGen ID
1725534

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
CYP3A4 DE4LYSA Limited Unknown [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CYP3A4 OTQGYY83 Limited Unknown [1]
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References

1 CYP3A4 mutation causes vitamin D-dependent rickets type 3. J Clin Invest. 2018 May 1;128(5):1913-1918. doi: 10.1172/JCI98680. Epub 2018 Apr 3.