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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
Thrombocytopenia, Paris-Trousseau Type (TCPT)
Alias:
Paris-Trousseau Thrombocytopenia
Jacobsen Distal 11q Deletion Syndrome
Thrombocytopenia Paris-Trousseau Type
Chromosome 11q23 Deletion Syndrome
Tcpt
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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
血小板减少症,巴黎-特鲁瓦特型,又称巴黎-特鲁瓦特血小板减少症,与雅各布森综合症和血小板减少症有关,症状包括肌肉痉挛。与血小板减少症,巴黎-特鲁瓦特型有关的重要基因是TCPT(血小板减少症,巴黎-特鲁瓦特型)。附属组织包括骨髓和骨,相关表型为智力障碍和心血管系统异常。
Related ID:
MALACARDS:THR101
OMIM:188025
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
新生儿
<1/1000000
1
11
7
THR101
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
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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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