Retinitis Pigmentosa 75 (RP75)

Alias:
Rp75
Retinitis Pigmentosa, Type 75
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Retinitis Pigmentosa 75, also known as rp75, is related to retinitis pigmentosa 55 and corneal neovascularization. An important gene associated with Retinitis Pigmentosa 75 is AGBL5 (AGBL Carboxypeptidase 5), and among its related pathways/superpathways is Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding. Affiliated tissues include retina and eye, and related phenotypes are rod-cone dystrophy and attenuation of retinal blood vessels
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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10
54
2

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
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References Literature

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