Details of Disease

General Information of Disease (ID: DISGHL9L)

Disease Name Leukoencephalopathy, progressive, with ovarian failure
Synonyms LKENP; leukoencephalopathy, progressive, with ovarian failure
Disease Hierarchy
DIS3J8NN: Leukoencephalopathy with vanishing white matter
DISGHL9L: Leukoencephalopathy, progressive, with ovarian failure
Disease Identifiers
MONDO ID
MONDO_0014387
UMLS CUI
C4014588
OMIM ID
615889
MedGen ID
863025

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
AARS2 OTOB0KSG Definitive Autosomal recessive [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.