Details of Disease | DrugMAP

General Information of Disease (ID: DIS8OP78)

Disease Name	Intellectual developmental disorder, autosomal recessive 71
Synonyms	MRT71; Mental Retardation, Autosomal Recessive 71; INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71
Disease Hierarchy	DISJWRZZ: Autosomal recessive non-syndromic intellectual disability DIS8OP78: Intellectual developmental disorder, autosomal recessive 71
Disease Identifiers	MONDO ID MONDO_0032789 UMLS CUI C5193133 OMIM ID 618504 MedGen ID 1673448

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
ALKBH8	OTXN70DV	Definitive	Autosomal recessive	[1]
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References

1	Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification. Am J Hum Genet. 2019 Jun 6;104(6):1202-1209. doi: 10.1016/j.ajhg.2019.03.026. Epub 2019 May 9.