Details of Disease

General Information of Disease (ID: DIS0I8OE)

• Disease Name: Intellectual disability, autosomal recessive 58
• Synonyms: autosomal recessive intellectual disability 58; ELP2-related disorder; mental retardation, autosomal recessive 58; mental retardation, autosomal recessive type 58; autosomal recessive non-syndromic intellectual disability caused by mutation in ELP2; MRT58; intellectual disability, autosomal recessive type 58; intellectual disability, autosomal recessive 58; intellectual developmental disorder, autosomal recessive 58; ELP2 autosomal recessive non-syndromic intellectual disability
• Definition: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ELP2 gene.
• Disease Hierarchy:
  DISJWRZZ: Autosomal recessive non-syndromic intellectual disability
  DIS0I8OE: Intellectual disability, autosomal recessive 58
• Disease Identifiers:
  MONDO ID: MONDO_0014996
  UMLS CUI: C4310641
  OMIM ID: 617270
  MedGen ID: 934608

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
ELP2	OTBXG37N	Strong	Autosomal recessive	[1]

References

• [1] Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature. 2011 Sep 21;478(7367):57-63. doi: 10.1038/nature10423.