Details of Disease

General Information of Disease (ID: DISU0EBQ)

• Disease Name: Intellectual disability, autosomal recessive 47
• Synonyms: mental retardation, autosomal recessive 47; MRT47; FMN2 autosomal recessive non-syndromic intellectual disability; autosomal recessive non-syndromic intellectual disability caused by mutation in FMN2; intellectual developmental disorder, autosomal recessive 47; mental retardation, autosomal recessive type 47; intellectual disability, autosomal recessive 47; intellectual disability, autosomal recessive type 47
• Definition: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FMN2 gene.
• Disease Hierarchy:
  DISJWRZZ: Autosomal recessive non-syndromic intellectual disability
  DISU0EBQ: Intellectual disability, autosomal recessive 47
• Disease Identifiers:
  MONDO ID: MONDO_0014524
  UMLS CUI: C4015444
  OMIM ID: 616193
  MedGen ID: 863881

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FMN2	OTUY7BSV	Strong	Autosomal recessive	[1]

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.