Details of Disease

General Information of Disease (ID: DIS5ELJX)

Disease Name Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome
Disease Hierarchy
DISYKSRF: Genetic disease
DIS5ELJX: Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome
Disease Identifiers
MONDO ID
MONDO_0859161
UMLS CUI
C5543496
OMIM ID
619356
MedGen ID
1788511

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
PIGF OTJKE6VW Limited Autosomal recessive [1]
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References

1 PIGF deficiency causes a phenotype overlapping with DOORS syndrome. Hum Genet. 2021 Jun;140(6):879-884. doi: 10.1007/s00439-020-02251-2. Epub 2021 Jan 2.