X-Linked Retinitis Pigmentosa and Sinorespiratory Infections

Alias:
Primary Ciliary Dyskinesia-Retinitis Pigmentosa Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
X-Linked Retinitis Pigmentosa and Sinorespiratory Infections, also known as primary ciliary dyskinesia-retinitis pigmentosa syndrome, is related to retinitis pigmentosa, x-linked, and sinorespiratory infections with or without deafness. An important gene associated with X-Linked Retinitis Pigmentosa and Sinorespiratory Infections is RPGR (Retinitis Pigmentosa GTPase Regulator). Affiliated tissues include eye and retina.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Child
<1/1000000
1
10
--

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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