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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
Craniofacial Microsomia 1 (CFM1)
Alias:
Goldenhar Syndrome
Hemifacial Microsomia
Oculoauriculovertebral Spectrum
Craniofacial Microsomia
Oculo-Auriculo-Vertebral Spectrum
Oavs
First and Second Branchial Arch Syndrome
Facio-Auriculo-Vertebral Spectrum
Facioauriculovertebral Sequence
Otomandibular Dysostosis
Oav Dysplasia
Fav Sequence
Oav Spectrum
Hfm
Cfm
Goldenhar Syndrome with Ipsilateral Radial Defect
Asymmetric Hypoplasia of Facial Structures
First and Second Pharyngeal Arch Syndromes
Unilateral Intrauterine Facial Necrosis
Unilateral Mandibulofacial Dysostosis
Oral-Mandibular-Auricular Syndrome
Oculo-Auriculo-Vertebral Dysplasia
Oculoauricular Vertebral Dysplasia
Oculoauriculovertebral Dysplasia
Facioauriculovertebral Dysplasia
Auriculobranchiogenic Dysplasia
Goldenhar-Gorlin Syndrome
Lateral Facial Dysplasia
Microsomia, Hemifacial
First Arch Syndrome
Goldenhar Disease
Oav Dysplasia
Oav Complex
Cfm1
Fav
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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
颅面微小症1,也被称为黄金哈氏综合症,与先天性小耳畸形和发育不全有关。与颅面微小症1相关的基因是SF3B2(剪接因子3b亚基2),其相关通路/超通路包括多巴胺能神经发生。在该疾病的背景下,已经提到了姜黄素和麻醉药。相关组织包括眼睛和骨骼,相关表型包括小下颌和面部不对称。
Related ID:
MALACARDS:CRN331
OMIM:164210
MESH:D006053
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
1-9/1000000
33
354
66
CRN331
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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