Details of Disease

General Information of Disease (ID: DISBT2X6)

Disease Name Leukodystrophy, hypomyelinating, 25
Disease Hierarchy
DISVY1TT: Leukodystrophy
DISBT2X6: Leukodystrophy, hypomyelinating, 25
Disease Identifiers
MONDO ID
MONDO_0859378
UMLS CUI
C5830275
OMIM ID
620243
MedGen ID
1840911

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
TMEM163 OTCT1Y1L Strong Autosomal dominant [1]
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References

1 Functional Study of TMEM163 Gene Variants Associated with Hypomyelination Leukodystrophy. Cells. 2022 Apr 9;11(8):1285. doi: 10.3390/cells11081285.