Details of Disease | DrugMAP

General Information of Disease (ID: DISPG2N1)

Disease Name	Intellectual disability, X-linked 99, syndromic, female-restricted
Synonyms	mental retardation, X-linked 99, syndromic, female-restricted; MRXS99F; intellectual disability, X-linked 99, syndromic, female-restricted; intellectual developmental disorder, X-linked 99, syndromic, female-restricted, X-linked dominant; USP9X X-linked syndromic intellectual disability; X-linked syndromic intellectual disability caused by mutation in USP9X
Definition	Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the USP9X gene.
Disease Hierarchy	DISG1YOH: X-linked syndromic intellectual disability DISPG2N1: Intellectual disability, X-linked 99, syndromic, female-restricted
Disease Identifiers	MONDO ID MONDO_0010502 UMLS CUI C4225416 OMIM ID 300968 MedGen ID 899839

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
USP9X	OT9ASQSE	Strong	X-linked	[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.