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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
Medulloblastoma (MDB)
Alias:
Classic Medulloblastoma
Localized Primitive Neuroectodermal Tumor
Cpnet
Mdb
Infratentorial Primitive Neuroectodermal Tumor
Medulloblastoma, with Extensive Nodularity
Medulloblastoma Predisposition Syndrome
Medulloblastoma, Histologically Defined
Medullomyoblastoma of Unspecified Site
Medulloblastoma of Unspecified Site
Neuroectodermal Tumors, Primitive
Desmoplastic Medulloblastoma
Medulloblastoma, Somatic
Brain Medulloblastoma
Medulloblastomas
Cns Pnet
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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
髓母细胞瘤,又称经典髓母细胞瘤,与髓母细胞瘤、儿童髓母细胞瘤和髓母细胞瘤有关,症状包括头痛、呕吐和步态不稳。与髓母细胞瘤有关的重要基因是CTNNB1(β-连环蛋白),其相关通路/超级通路包括Hedgehog信号通路和Wnt / Hedgehog / Notch。Coenzyme M和红霉素已在该疾病的背景下被提及。附属组织包括大脑和小脑,相关表型为髓母细胞瘤和恶心呕吐。
Related ID:
MALACARDS:MDL005
OMIM:155255
MESH:D008527
ICD11:290815825
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
孩童期
1-9/1000000
287
4035
65
MDL005
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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