FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term cerebellar atrophy, visual impairment, and psychomotor retardation ID (Ontology) DOID:0081276 (Human Disease)
Definition A syndrome that is characterized by cerebellar atrophy, visual impairment and psychomotor retardation and that has_material_basis_in homozygous mutation in the EMC1 gene on chromosome 1p36.
Also Known As "CAVIPMR"
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Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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Relevant FlyBase reports
 Alleles Genes Human Disease Models
 cerebellar atrophy, visual impairment, and psychomotor retardation       7      2      1
 ameliorates | cerebellar atrophy, visual impairment, and psychomotor retardation       1       --       --
 for disease ribbon | cerebellar atrophy, visual impairment, and psychomotor retardation       --       1       --
 model of | cerebellar atrophy, visual impairment, and psychomotor retardation       6      1       --
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 cerebellar atrophy, visual impairment, and psychomotor retardation  10 rec.
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Is a autosomal recessive disease
syndrome
Part of
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Synonyms
  • "CAVIPMR" EXACT OMO:0003012
Secondary IDs
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MIM:616875
ORDO:480898