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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
Hemochromatosis, Neonatal (NH)
Alias:
Neonatal Hemochromatosis
Alloimmune Hepatitis, Congenital
Giant Cell Hepatitis, Formerly
Neonatal Hepatitis, Formerly
Nhc
Nh
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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
血色素沉着症,新生儿型,又称新生儿血色素沉着症,与铁沉着症和原发性肺动脉高压3型有关。相关组织包括肝脏和胎儿肝脏,相关表型为反向鼻孔和低血糖。
Related ID:
MALACARDS:HMC038
OMIM:231100
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
--
--
15
HMC038
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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