Details of Disease

General Information of Disease (ID: DIS1Z19Q)

Disease Name Glycosylphosphatidylinositol biosynthesis defect 25
Disease Hierarchy
DISLZR99: Disorder of GPI anchor biosynthesis
DIS1Z19Q: Glycosylphosphatidylinositol biosynthesis defect 25
Disease Identifiers
MONDO ID
MONDO_0859271
UMLS CUI
C5774191
OMIM ID
619985
MedGen ID
1823964

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
C18orf32 OT2MCLSE Limited Unknown [1]
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References

1 C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures. Hum Genet. 2022 Aug;141(8):1423-1429. doi: 10.1007/s00439-022-02433-0. Epub 2022 Feb 2.