Details of Disease

General Information of Disease (ID: DISO5GEH)

Disease Name Rajab interstitial lung disease with brain calcifications 2
Synonyms RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
Disease Hierarchy
DISP95VU: Rajab interstitial lung disease with brain calcifications
DISO5GEH: Rajab interstitial lung disease with brain calcifications 2
Disease Identifiers
MONDO ID
MONDO_0100220
UMLS CUI
C5436603
OMIM ID
619013
MedGen ID
1770895

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
FARSA OT3U1P20 Strong Autosomal recessive [1]
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References

1 FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects. Clin Genet. 2019 Nov;96(5):468-472. doi: 10.1111/cge.13614. Epub 2019 Aug 6.