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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
Myeloproliferative Neoplasm (MPD)
Alias:
Myeloproliferative Disorder
Chronic Myeloproliferative Disease
Chronic Myeloproliferative Disorder
Myeloproliferative Neoplasms
Mpd
Mpn
Myeloproliferative Disorders
Myeloproliferative Disease
Campomelic Dysplasia
Cmpd, U
Cmpd
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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
髓系增生性肿瘤,也称为髓系增生性疾病,与骨髓增生/髓系肿瘤和慢性中性粒细胞白血病有关,症状包括呼吸暂停和呼吸困难。与髓系增生性肿瘤相关的基因是JAK2(Janus Kinase 2),其相关通路/超级通路包括传染病和ERK信号通路。在该疾病的背景下,提到的药物有组胺和福沙匹坦。相关组织包括骨髓和髓系,相关表型为细胞活力降低和细胞粘附降低。
Related ID:
MALACARDS:MYL031
ICD11:37207998
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
全年龄段
1-9/100000
75
1223
19
MYL031
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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