Hereditary Choroidal Atrophy

Alias:
Hereditary Choroidal Dystrophy
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hereditary Choroidal Atrophy, also known as hereditary choroidal dystrophy, is related to choroideremia and choroidal dystrophy, central areolar, 1. An important gene associated with Hereditary Choroidal Atrophy is PRPH2 (Peripherin 2), and among its related pathways/superpathways are Olfactory Signaling Pathway and Visual phototransduction. Affiliated tissues include eye and retina, and related phenotypes are vision/eye and pigmentation
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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14
98
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Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
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Gene & Mutation

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Related Drugs

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Disease Model

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MGI
Related Gene
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Publications
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References Literature

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