FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term retinitis pigmentosa 93 ID (Ontology) DOID:0061105 (Human Disease)
Definition A retinitis pigmentosa characterized by mild to moderate rod-cone dystrophy with onset in the second or third decade of life. Patients have constricted visual fields with macular sparing and show mildly reduced visual acuity with mild to high myopia that has_material_basis_in compound heterozygous mutation in the CC2D2A gene on chromosome 4p15.
Also Known As "RP93"
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 Genes
 retinitis pigmentosa 93       1
 for disease ribbon | retinitis pigmentosa 93       1
 model of | retinitis pigmentosa 93       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
retinal degeneration             |
 |__retinitis pigmentosa_________|
                                 retinitis pigmentosa 93  1 rec.
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Is a autosomal recessive disease
retinitis pigmentosa
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Synonyms
  • "RP93" EXACT OMO:0003012
Secondary IDs
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MIM:619845