Details of Disease | DrugMAP

General Information of Disease (ID: DISY5DCZ)

Disease Name	Intellectual developmental disorder, autosomal recessive 76
Synonyms	mental retardation, autosomal recessive 76; MRT76; intellectual developmental disorder, autosomal recessive 76
Disease Hierarchy	DISJWRZZ: Autosomal recessive non-syndromic intellectual disability DISY5DCZ: Intellectual developmental disorder, autosomal recessive 76
Disease Identifiers	MONDO ID MONDO_0030968 UMLS CUI C5677007 OMIM ID 619931 MedGen ID 1808571

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GRIA1	TTVPQTF	Limited	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GRIA1	OT85LOCJ	Limited	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.