Details of Disease | DrugMAP

General Information of Disease (ID: DIS28AB0)

Disease Name	Chromosome 2p16.3 deletion syndrome
Synonyms	chromosome 2P16.3 deletion syndrome; schizophrenia, susceptibility to, 17
Disease Hierarchy	DISSRV2N: Schizophrenia DIS1DD8C: Syndrome caused by partial chromosomal deletion DISKY5XB: Partial deletion of the short arm of chromosome 2 DISD715V: Hereditary neurological disease DIS28AB0: Chromosome 2p16.3 deletion syndrome
Disease Identifiers	MONDO ID MONDO_0013696 UMLS CUI C3808494 OMIM ID 614332 MedGen ID 814824

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
NRXN1	OTJN1JQA	Strong	Autosomal dominant	[1]
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References

1	Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay. Am J Med Genet B Neuropsychiatr Genet. 2010 Jul;153B(5):983-93. doi: 10.1002/ajmg.b.31064.