FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term autosomal dominant intellectual developmental disorder 53 ID (Ontology) DOID:0080228 (Human Disease)
Definition An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2A gene on chromosome 5q32.
Also Known As "autosomal dominant mental retardation 53"
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Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 autosomal dominant intellectual developmental disorder 53       1      1
 for disease ribbon | autosomal dominant intellectual developmental disorder 53       1       --
 model of | autosomal dominant intellectual developmental disorder 53       1       --
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autosomal dominant disease__
intellectual disability_____|
                            autosomal dominant intellectual developmental disorder
                             |__autosomal dominant intellectual developmental disorder 53  2 rec.
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Is a autosomal dominant intellectual developmental disorder
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Synonyms
  • "autosomal dominant mental retardation 53" EXACT
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MIM:617798