Retinitis Pigmentosa 20 (RP20)

Alias:
Rp20
Retinitis Pigmentosa, Type 20
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Retinitis Pigmentosa 20, also known as rp20, is related to mitochondrial dna-associated leigh syndrome and deafness, autosomal recessive 103. An important gene associated with Retinitis Pigmentosa 20 is RPE65 (Retinoid Isomerohydrolase RPE65), and among its related pathways/superpathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Diseases of the neuronal system. Affiliated tissues include retina and eye, and related phenotypes are nystagmus and visual impairment
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
--
8
50
120

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
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References Literature

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IF
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