Retinitis Pigmentosa 59 (RP59)

Retinitis Pigmentosa 59(来自ICD-11)
别称:
Rp59
Congenital Disorder of Glycosylation, Type 1bb
Congenital Disorder of Glycosylation 1bb
Retinitis Pigmentosa, Type 59
Cdg1bb
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Basic Information
Medical Symptom
Gene & Mutation
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References Literature
Retinitis Pigmentosa 59, also known as rp59, is related to retinitis pigmentosa and retinitis. An important gene associated with Retinitis Pigmentosa 59 is DHDDS (Dehydrodolichyl Diphosphate Synthase Subunit), and among its related pathways/superpathways are Transport to the Golgi and subsequent modification and Diseases of glycosylation. Affiliated tissues include retina and eye, and related phenotypes are cystoid macular edema and reduced visual acuity
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MALACARDS
AR
Unknown
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2
12
18

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