FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term infantile cerebellar-retinal degeneration ID (Ontology) DOID:0050883 (Human Disease)
Definition A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration.
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DO.org
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Records annotated with this term OR any of its CHILD TERMS
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       1
Human Disease Models (FBhh)  DOID       1
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 Alleles Genes Human Disease Models
 infantile cerebellar-retinal degeneration       1      2      1
 for disease ribbon | infantile cerebellar-retinal degeneration       --       2       --
 model of | infantile cerebellar-retinal degeneration       1      2       --
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
central nervous system disease   |
 |__neurodegenerative disease____|
                                 infantile cerebellar-retinal degeneration  4 rec.
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Is a autosomal recessive disease
neurodegenerative disease
Part of
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GARD:13264
MIM:614559