Details of Disease

General Information of Disease (ID: DISTGWA9)

• Disease Name: Intellectual disability, autosomal recessive 57
• Synonyms: intellectual developmental disorder, autosomal recessive 57; autosomal recessive non-syndromic intellectual disability caused by mutation in MBOAT7; MBOAT7 autosomal recessive non-syndromic intellectual disability; intellectual disability, autosomal recessive 57; mental retardation, autosomal recessive 57; MRT57; mental retardation, autosomal recessive type 57; intellectual disability, autosomal recessive type 57
• Definition: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MBOAT7 gene.
• Disease Hierarchy:
  DISJWRZZ: Autosomal recessive non-syndromic intellectual disability
  DISTGWA9: Intellectual disability, autosomal recessive 57
• Disease Identifiers:
  MONDO ID: MONDO_0014962
  UMLS CUI: C4310673
  OMIM ID: 617188
  MedGen ID: 934640

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
MBOAT7	OTHRCBLK	Strong	Autosomal recessive	[1]

References

• [1] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.