Details of Disease | DrugMAP

General Information of Disease (ID: DISR20LN)

Disease Name	Microcephaly 21, primary, autosomal recessive
Synonyms	MCPH21; microcephaly 21, PRIMARY, autosomal recessive
Disease Hierarchy	DIS29IE3: Autosomal recessive primary microcephaly DISR20LN: Microcephaly 21, primary, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0054804 UMLS CUI C4693831 OMIM ID 617983 MedGen ID 1646916

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
NCAPD2	OT8VGE2O	Moderate	Autosomal recessive	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.