Version: 8.0.0
Date: Tue Jan 28 2025
autosomal dominant intellectual developmental disorder 45
DOID:0080236
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

autosomal dominant intellectual developmental disorder 45

Definition
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CIC gene on chromosome 19q13.
Synonyms
  • autosomal dominant mental retardation 45
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

Gene
Species
Association
Disease Qualifier
Disease
Evidence
Based On
Source
References
Homo sapiensis implicated inautosomal dominant intellectual developmental disorder 45
  • IAGP
Rattus norvegicusis implicated via orthologyautosomal dominant intellectual developmental disorder 45
  • IEA
MGI:6194238
Mus musculusis implicated via orthologyautosomal dominant intellectual developmental disorder 45
  • IEA
MGI:6194238
Xenopus laevisis implicated via orthologyautosomal dominant intellectual developmental disorder 45
  • IEA
MGI:6194238
Xenopus tropicalisis implicated via orthologyautosomal dominant intellectual developmental disorder 45
  • IEA
MGI:6194238
Danio reriois implicated via orthologyautosomal dominant intellectual developmental disorder 45
  • IEA
MGI:6194238
Danio reriois implicated via orthologyautosomal dominant intellectual developmental disorder 45
  • IEA
MGI:6194238
Drosophila melanogasteris implicated via orthologyautosomal dominant intellectual developmental disorder 45
  • IEA
MGI:6194238
Caenorhabditis elegansis implicated via orthologyautosomal dominant intellectual developmental disorder 45
  • IEA
MGI:6194238
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Associated Alleles

No data available

Associated Models

No data available