Retinitis Pigmentosa 71 (RP71)

Alias:
Rp71
Retinitis Pigmentosa, Type 71
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Retinitis Pigmentosa 71, also known as rp71, is related to short-rib thoracic dysplasia 6 with or without polydactyly and vas deferens, congenital bilateral aplasia of. An important gene associated with Retinitis Pigmentosa 71 is IFT172 (Intraflagellar Transport 172), and among its related pathways/superpathways is 2q37 copy number variation syndrome. Affiliated tissues include retina and eye, and related phenotypes are nyctalopia and optic disc pallor
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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9
59
7

Medical Symptom

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Categorization
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

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Name
MGI
Related Gene
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Publications
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References Literature

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