Details of Disease

General Information of Disease (ID: DISP95VU)

Disease Name Rajab interstitial lung disease with brain calcifications
Disease Hierarchy
DISYKSRF: Genetic disease
DISWSHC6: Interstitial lung disease
DISP95VU: Rajab interstitial lung disease with brain calcifications
Disease Identifiers
MONDO ID
MONDO_0100214
UMLS CUI
C3150910
MedGen ID
462260
SNOMED CT ID
720576001

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
FARSB OT8N9TT5 Limited Genetic Variation [1]
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References

1 Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease. Hum Mutat. 2018 Jun;39(6):834-840. doi: 10.1002/humu.23424. Epub 2018 Apr 10.