Retinitis Pigmentosa 7 (RP7)

Alias:
Leber Congenital Amaurosis 18
Retinitis Pigmentosa 7, Digenic Form
Rp7
Retinitis Pigmentosa 7 and Digenic Form
Retinitis Pigmentosa 7, Digenic
Retinitis Pigmentosa 7 Digenic
Lca18
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Retinitis Pigmentosa 7, also known as leber congenital amaurosis 18, is related to retinitis and cone-rod dystrophy 7. An important gene associated with Retinitis Pigmentosa 7 is PRPH2 (Peripherin 2), and among its related pathways/superpathways is Diseases of the neuronal system. Affiliated tissues include retina and eye, and related phenotypes are chorioretinal atrophy and abnormal electroretinogram
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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20
171
20

Medical Symptom

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

Gene & Mutation

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Mutations
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Related Drugs

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No data available

Disease Model

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MGI
Related Gene
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Publications
No data available

References Literature

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PMID
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