Details of Disease | DrugMAP

General Information of Disease (ID: DIS3DB5D)

Disease Name	Intellectual developmental disorder, autosomal dominant 63, with macrocephaly
Synonyms	Mental Retardation, Autosomal Dominant 63, With Macrocephaly; INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63
Disease Hierarchy	DISD6L06: Autosomal dominant non-syndromic intellectual disability DIS3DB5D: Intellectual developmental disorder, autosomal dominant 63, with macrocephaly
Disease Identifiers	MONDO ID MONDO_0032939 UMLS CUI C5394205 OMIM ID 618825 MedGen ID 1716581

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
TRIO	OT71X1AK	Moderate	Autosomal dominant	[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.