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-2 ID (Ontology) DOID:0081385 (Human Disease)
Definition An autosomal recessive cerebellar ataxia that is characterized by developmental delay, ataxia, and sensorineural hearing loss and that has_material_basis_in homozygous mutation in the PCNA gene on chromosome 20p12.
Also Known As "PCNA-related progressive neurodegenerative photosensitivity syndrome"
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 Genes
 ataxia-telangiectasia-like disorder-2       2
 for disease ribbon | ataxia-telangiectasia-like disorder-2       2
 model of | ataxia-telangiectasia-like disorder-2       2
Spanning Tree (Parents/Children)
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autosomal recessive disease__
cerebellar ataxia____________|
                             autosomal recessive cerebellar ataxia
                              |__ataxia-telangiectasia-like disorder-2  2 rec.
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Is a autosomal recessive cerebellar ataxia
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Synonyms
  • "PCNA-related progressive neurodegenerative photosensitivity syndrome" EXACT
Secondary IDs
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MIM:615919
ORDO:438134