Details of Disease | DrugMAP

General Information of Disease (ID: DISGCD7A)

Disease Name	Parenti-mignot neurodevelopmental syndrome
Disease Hierarchy	DIS372XH: Neurodevelopmental disorder DISGCD7A: Parenti-mignot neurodevelopmental syndrome
Disease Identifiers	MONDO ID MONDO_0859249 UMLS CUI C5676984 OMIM ID 619873 MedGen ID 1808333

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
CHD5	OTS5EVHH	Strong	Autosomal dominant	[1]
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References

1	Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy. Hum Genet. 2021 Jul;140(7):1109-1120. doi: 10.1007/s00439-021-02283-2. Epub 2021 May 4.