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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Xanthinuria, Type Ii (XAN2)
Alias:
Xanthinuria Type Ii
Xan2
Xanthine Dehydrogenase and Xanthine Aldehyde Oxidase Dual Deficiency
Xdh and Aox Dual Deficiency
Xanthine Dehydrogenase and Aldehyde Oxidase, Combined Deficiency of
Combined Deficiency of Xanthine Dehydrogenase and Aldehyde Oxidase
Xanthic Urolithiasis
Xanthinuria 2
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
黄嘌呤尿症II型,又称黄嘌呤尿症II型,与黄嘌呤尿症I型和黄嘌呤尿症有关。与黄嘌呤尿症II型相关的基因是MOCOS(钼辅因子硫化酶),其相关通路/超通路包括代谢和水溶性维生素和辅因子的代谢。附属组织包括肾脏,相关表型为肾功能不全和低尿酸血症。
Related ID:
MALACARDS:XNT011
OMIM:603592
MESH:C566358
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
3
13
11
XNT011
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
Gene
Function
Score
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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