Details of Disease | DrugMAP

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.