Retinitis Pigmentosa 12 (RP12)

Retinitis Pigmentosa 12(来自ICD-11)
别称:
Rp12
Retinitis Pigmentosa with or Without Paraarteriolar Preservation of Retinal Pigment Epithelium
Rp with or Without Preserved Paraarteriole Retinal Pigment Epithelium
Rp with or Without Pprpe
Retinitis Pigmentosa, with/without Pprpe, Type 12
Retinitis Pigmentosa-12
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Basic Information
Medical Symptom
Gene & Mutation
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References Literature
Retinitis Pigmentosa 12, also known as rp12, is related to retinitis and leber congenital amaurosis 8. An important gene associated with Retinitis Pigmentosa 12 is CRB1 (Crumbs Cell Polarity Complex Component 1), and among its related pathways/superpathways are Complement cascade and Notch Signaling Pathway (sino). Affiliated tissues include retina and eye, and related phenotypes are nystagmus and reduced visual acuity
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参考文献
MALACARDS
AR
Unknown
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18
128
133

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