Cone-Rod Dystrophy 13 (CORD13)

Alias:
Cord13
Dystrophy, Cone-Rod, Type 13
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cone-Rod Dystrophy 13, also known as cord13, is related to leber congenital amaurosis 4 and leber congenital amaurosis 8. An important gene associated with Cone-Rod Dystrophy 13 is RPGRIP1 (RPGR Interacting Protein 1), and among its related pathways/superpathways are Ciliary landscape and Ciliopathies. Affiliated tissues include eye, and related phenotypes are visual impairment and photophobia
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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
57
43

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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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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