Details of Disease

General Information of Disease (ID: DISAA7AX)

• Disease Name: Intellectual disability, autosomal dominant 3
• Synonyms: autosomal dominant non-syndromic intellectual disability 3; mental retardation, autosomal dominant 3; CDH15 autosomal dominant non-syndromic intellectual disability; autosomal dominant non-syndromic intellectual disability caused by mutation in CDH15; mental retardation, autosomal dominant type 3; intellectual disability, autosomal dominant 3; autosomal dominant intellectual disability 3; intellectual disability, autosomal dominant type 3; autosomal dominant mental retardation 3; MRD3
• Definition: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CDH15 gene.
• Disease Hierarchy:
  DIS1I87P: Intellectual disability, autosomal dominant
  DISAA7AX: Intellectual disability, autosomal dominant 3
• Disease Identifiers:
  MONDO ID: MONDO_0012946
  MESH ID: C567241
  UMLS CUI: C2675488
  OMIM ID: 612580
  MedGen ID: 436447

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
CDH15	OTJ1TO02	Limited	Autosomal dominant	[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.