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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
Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart Defect-Hearing Loss Syndrome
Alias:
Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart Defect-Deafness Syndrome
Hyaluronidase 2 Deficiency
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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
唇裂和腭裂-颅面畸形-先天性心脏病-听力损失综合征,又称唇裂和腭裂-颅面畸形-先天性心脏病-耳聋综合征,与心脏病和透明质酸2缺乏有关。与唇裂和腭裂-颅面畸形-先天性心脏病-听力损失综合征相关的重要基因是透明质酸酶2(HYAL2)。附属组织包括心脏。
Related ID:
MALACARDS:CLF055
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
新生儿
<1/1000000
1
6
--
CLF055
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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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
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IF
No Data Found!
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