Details of Disease

General Information of Disease (ID: DISVO5F8)

Disease Name Leukodystrophy, hypomyelinating, 18
Synonyms LEUKODYSTROPHY, HYPOMYELINATING, 18; HLD18
Disease Hierarchy
DISVY1TT: Leukodystrophy
DISVO5F8: Leukodystrophy, hypomyelinating, 18
Disease Identifiers
MONDO ID
MONDO_0032730
UMLS CUI
C5193078
OMIM ID
618404
MedGen ID
1680067

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
DEGS1 OT4WXPKW Definitive Autosomal recessive [1]
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References

1 Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy. J Clin Invest. 2019 Mar 1;129(3):1240-1256. doi: 10.1172/JCI123959. Epub 2019 Feb 11.