Details of Disease | DrugMAP

General Information of Disease (ID: DIS4AQ1M)

Disease Name	Intellectual developmental disorder, autosomal recessive 67
Synonyms	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67; MRT67; Mental Retardation, Autosomal Recessive 67
Disease Hierarchy	DISJWRZZ: Autosomal recessive non-syndromic intellectual disability DIS4AQ1M: Intellectual developmental disorder, autosomal recessive 67
Disease Identifiers	MONDO ID MONDO_0032662 UMLS CUI C4749019 OMIM ID 618295 MedGen ID 1648350

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
EIF3F	OTU20K6L	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.