Nephronophthisis 1 (NPHP1)

Nephronophthisis 1(来自ICD-11)
别称:
Nphp1
Nephronophthisis, Familial Juvenile
Nephronophthisis 1, Juvenile
Nph1
Familial Juvenile Nephronophthisis 1
Juvenile Nephronophthisis 1
Nephronophthisis, Type 1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Nephronophthisis 1, also known as nphp1, is related to joubert syndrome 4 and nephronophthisis 18, and has symptoms including polyuria and polydipsia. An important gene associated with Nephronophthisis 1 is NPHP1 (Nephrocystin 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Bardet-Biedl syndrome. Affiliated tissues include kidney and liver, and related phenotypes are nephronophthisis and hypertension
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基础信息

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参考文献
MALACARDS
AR
Unknown
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13
112
44

疾病表征

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靶点药物

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MGI
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