Details of Disease

General Information of Disease (ID: DISV7GZY)

Disease Name Rajab interstitial lung disease with brain calcifications 1
Synonyms
developmental delay, small stature, microcephaly, and brain calcifications; NEDBLLA; Rajab syndrome; brain calcification, Rajab type; neurodevelopmental disorder with brain, liver, and lung abnormalities
Disease Hierarchy
DISCPWH9: Autosomal recessive disease
DISP95VU: Rajab interstitial lung disease with brain calcifications
DISV7GZY: Rajab interstitial lung disease with brain calcifications 1
Disease Identifiers
MONDO ID
MONDO_0100215
UMLS CUI
C5436276
OMIM ID
613658
MedGen ID
1750003
Orphanet ID
178506

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 Strong Autosomal recessive [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.