Details of Disease

General Information of Disease (ID: DIS8N012)

Disease Name Autism, susceptibility to, X-linked 4
Synonyms
X-linked susceptibility to autism-4; AUTSX4; chromosome Xp22 deletion syndrome; susceptibility to autism, X-linked; susceptibility to X-linked autism 4; autism, susceptibility to, X-linked 4, X-linked recessive; autism, susceptibility to, X-linked 4; autism, susceptibility to, X-linked type 4
Disease Hierarchy
DISRAMZ3: Autism, susceptiblity to
DIS8N012: Autism, susceptibility to, X-linked 4
Disease Identifiers
MONDO ID
MONDO_0010440
UMLS CUI
C0795888
OMIM ID
300830
MedGen ID
162886

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
PTCHD1 OTFDLU5S Definitive 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.