Details of Disease | DrugMAP

General Information of Disease (ID: DISXBX9Q)

Disease Name	Intellectual disability, autosomal dominant 55, with seizures
Synonyms	mental retardation, autosomal dominant 55, with seizures; MRD55; autosomal dominant mental retardation 55; autosomal dominant intellectual disability 55; intellectual disability, autosomal dominant 55, with seizures
Disease Hierarchy	DISD6L06: Autosomal dominant non-syndromic intellectual disability DISXBX9Q: Intellectual disability, autosomal dominant 55, with seizures
Disease Identifiers	MONDO ID MONDO_0030921 UMLS CUI C4693371 OMIM ID 617831 MedGen ID 1635938

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
NUS1	OT4DQ82L	Strong	Autosomal dominant	[1]
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References

1	Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation. Cell Metab. 2014 Sep 2;20(3):448-57. doi: 10.1016/j.cmet.2014.06.016. Epub 2014 Jul 24.