FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term PHARC syndrome ID (Ontology) DOID:0080181 (Human Disease)
Definition A syndrome that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract.
Also Known As "polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract"
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DO.org
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 Genes
 PHARC syndrome       1
 for disease ribbon | PHARC syndrome       1
 model of | PHARC syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 PHARC syndrome  1 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract" EXACT
Secondary IDs
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MIM:612674
ORDO:171848