FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term cone-rod dystrophy 24 ID (Ontology) DOID:0081449 (Human Disease)
Definition A cone-rod dystrophy that is characterized by night blindness, defective color vision, and reduced visual acuity and that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11.
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 Genes
 cone-rod dystrophy 24       1
 for disease ribbon | cone-rod dystrophy 24       1
 model of | cone-rod dystrophy 24       1
Spanning Tree (Parents/Children)
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monogenic disease
 |__cone-rod dystrophy__________
autosomal genetic disease       |
 |__autosomal dominant disease__|
retinal degeneration            |
 |__cone-rod dystrophy__________|
                                cone-rod dystrophy 24  1 rec.
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Is a cone-rod dystrophy
autosomal dominant disease
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MIM:620342