Details of Disease | DrugMAP

General Information of Disease (ID: DISRMDAX)

Disease Name	Baralle-Macken syndrome
Synonyms	BARMACS; neurodevelopmental disorder with cataracts and variable microcephaly
Disease Hierarchy	DISYKSRF: Genetic disease DISRMDAX: Baralle-Macken syndrome
Disease Identifiers	MONDO ID MONDO_0031002 UMLS CUI C5543241 OMIM ID 619255 MedGen ID 1778777

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
COPB1	OT50CV12	Limited	Unknown	[1]
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References

1	Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly. Genome Med. 2021 Feb 25;13(1):34. doi: 10.1186/s13073-021-00850-w.