General Information of Disease (ID: DISF038C)

Disease Name Intellectual developmental disorder, X-linked, syndromic, Pilorge type
Synonyms MRXSP; intellectual developmental disorder, X-linked, syndromic, Pilorge type
Disease Hierarchy
DISG1YOH: X-linked syndromic intellectual disability
DISF038C: Intellectual developmental disorder, X-linked, syndromic, Pilorge type
Disease Identifiers
MONDO ID
MONDO_0024772
UMLS CUI
C5676881
OMIM ID
301076
MedGen ID
1803486

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
GLRA2 OTDQ0KW7 Strong X-linked [1]
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References

1 Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism. Mol Psychiatry. 2016 Jul;21(7):936-45. doi: 10.1038/mp.2015.139. Epub 2015 Sep 15.