FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term ataxia-telangiectasia-like disorder-1 ID (Ontology) DOID:0081384 (Human Disease)
Definition An autosomal recessive cerebellar ataxia that is characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia and that has_material_basis_in homozygous or compound heterozygous mutation in the MRE11A gene (MRE11) on chromosome 11q21.
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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
 ataxia-telangiectasia-like disorder-1       1      1      1
 for disease ribbon | ataxia-telangiectasia-like disorder-1       --       1       --
 model of | ataxia-telangiectasia-like disorder-1       1      1       --
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autosomal recessive disease__
cerebellar ataxia____________|
                             autosomal recessive cerebellar ataxia
                              |__ataxia-telangiectasia-like disorder-1  3 rec.
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Is a autosomal recessive cerebellar ataxia
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MIM:604391
ORDO:251347