Retinitis Pigmentosa 23 (RP23)

Retinitis Pigmentosa 23(来自ICD-11)
别称:
Rp23
Retinitis Pigmentosa, Type 23
Retinitis Pigmentosa-23
Rp23 Gene
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Basic Information
Medical Symptom
Gene & Mutation
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Disease Model
References Literature
Retinitis Pigmentosa 23, also known as rp23, is related to retinitis pigmentosa 2 and cone-rod dystrophy, x-linked, 1. An important gene associated with Retinitis Pigmentosa 23 is OFD1 (OFD1 Centriole And Centriolar Satellite Protein), and among its related pathways/superpathways are Regulation of expression of SLITs and ROBOs and Signaling by Slit. Affiliated tissues include retina and eye, and related phenotypes are rod-cone dystrophy and constriction of peripheral visual field
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参考文献
MALACARDS
XL
XLD
Unknown
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10
42
3

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