Cone Dystrophy with Supernormal Rod Response

Alias:
Cone Dystrophy with Supernormal Rod Electroretinogram
Cone Dystrophy with Supernormal Scotopic Electroretinogram
Cone Dystrophy with Supernormal Rod Erg
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cone Dystrophy with Supernormal Rod Response, also known as cone dystrophy with supernormal rod electroretinogram, is related to cone dystrophy and color blindness, and has symptoms including photophobia An important gene associated with Cone Dystrophy with Supernormal Rod Response is KCNV2 (Potassium Voltage-Gated Channel Modifier Subfamily V Member 2). Affiliated tissues include eye and retina.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Unknown
<1/1000000
2
8
8

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
No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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