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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
Bosma Arhinia Microphthalmia Syndrome (BAMS)
Alias:
Arhinia, Choanal Atresia, Microphthalmia, and Hypogonadotropic Hypogonadism
Arhinia Choanal Atresia Microphthalmia
Bams
Hyposmia-Nasal and Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Arhinia, Choanal Atresia, and Microphthalmia
Arrhinia with Choanal Atresia and Microphthalmia Syndrome
Arhinia, Choanal Atresia, Microphthalmia, Bosma Type
Congenital Absence of Nose and Anterior Nasopharynx
Bosma Arhinia-Microphthalmia Syndrome
Bosma-Henkin-Christiansen Syndrome
Bosma Henkin Christiansen Syndrome
Ruprecht Majewski Syndrome
Gifford-Bosma Syndrome
Bosma Syndrome
Bam Syndrome
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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
博斯马·阿林尼亚·小眼症,又称阿林尼亚、鼻孔闭锁、小眼症和低促性腺激素性低促性腺激素症,与小眼症和肌营养不良有关。与博斯马·阿林尼亚·小眼症有关的重要基因是SMCHD1(染色体结构维护可变铰链域包含1)。附属组织包括嗅球和眼睛,相关表型包括白内障和腹股沟疝。
Related ID:
MALACARDS:BSM002
OMIM:603457
MESH:D000013
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
胎儿期
<1/1000000
1
8
16
BSM002
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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