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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
非罕见病
Apnea, Obstructive Sleep (OSA)
Alias:
Obstructive Sleep Apnea Syndrome
Obstructive Sleep Apnea
Sleep Apnea, Obstructive
Upper Airway Resistance Sleep Apnea Syndrome
Sleep Apnea/hypopnea Syndrome
Osas
Sahs
Osa
[osahs] - Obstructive Sleep Apnoea-Hypopnea Syndrome
Obstructive Sleep Apnoea Hypopnoea Syndrome
[sahs] - Sleep Apnoea-Hypopnea Syndrome
Obstructive Sleep Apnoea, Paediatric
Sleep Apnea Syndrome, Obstructive
Obstructive Sleep Apnoea Syndrome
Osa - [obstructive Sleep Apnoea]
Obstructive Sleep Apnoea, Adult
Sleep Apnea Hypopnea Syndrome
[sas] - Sleep Apnoea Syndrome
Sleep Apnea Obstructive
Sleep Apnea Syndromes
Sleep Apnoea Syndrome
Apnea, Obstructive
Obstructive Apnea
Sleep Apnoea Nos
Osa Syndrome
Osahs
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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
睡眠呼吸暂停,也称为阻塞性睡眠呼吸暂停综合症,与肥胖低通气综合症和肢端肥大症有关,症状包括呼吸暂停、背痛和Cheyne-Stokes呼吸。与睡眠呼吸暂停,阻塞性睡眠相关的基因是LEP(瘦素),其相关通路/超级通路包括蛋白质代谢和信号转导。在该疾病的背景下提到了鸦片和醋甲唑胺。相关组织包括心脏和舌,相关表型为嗅觉缺失和阻塞性睡眠呼吸暂停。
Related ID:
MALACARDS:APN008
OMIM:107650
MESH:D020181
ICD11:1919233290
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
37
501
18
APN008
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
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Publications
No data available
References Literature
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IF
No Data Found!
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