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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
Noma (NOMA)
Alias:
Cancrum Oris
Gangrenous Stomatitis
Stomatitis Gangrenosa
Oro-Facial Gangrene
Gangrene Stomatitis
Stomatonecrosis
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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
诺玛,又名癌症或里斯,与溃疡性口炎和牙龈炎有关,症状包括口腔表现。与诺玛有关的重要基因是CBS(半胱氨酸β合酶)。附属组织包括心肌细胞和唾液腺。
Related ID:
MALACARDS:NM001
MESH:D009625
ICD11:340823130
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
孩童期
--
10
29
--
NM001
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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