Albinism

Albinism(来自ICD-11)
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Albinism is related to albinism, oculocutaneous, type ia and albinism, ocular, with late-onset sensorineural deafness. An important gene associated with Albinism is TYR (Tyrosinase), and among its related pathways/superpathways are Regulation of expression of SLITs and ROBOs and Prader-Willi and Angelman syndrome. The drugs Nitisinone and Pirfenidone have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related phenotypes are Increased shRNA abundance (Z-score > 2) and pigmentation
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基础信息

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参考文献
MALACARDS
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Unknown
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24
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4

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