DiseaseID 4658
脊髓性肌萎缩症
disease
NCI2016_02D:An inherited disorder characterized by degeneration of the spinal cord and the cerebellum. Symptoms may appear at any age and include progressive loss of coordination of gait, hands, speech, and eye movements
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Disease: 1Symptom: 6Target: 12Links: 18
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 4658
- Core Entity Id
- 61038
- Source Entity Count
- 1
- Preferred Name
- Spinal Muscular Atrophy
- Name Cn
- 脊髓性肌萎缩症
- Name Pinyin
- Ji Sui Xing Ji Wei Suo Zheng
- Name En
- Spinal Muscular Atrophy
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Nervous System Diseases
- Do Class
- disease of anatomical entity
- Hpo Class
- Abnormality of the musculature
- Mesh Class Name
- Nervous System Diseases
- Hpo Class Name
- Abnormality of the musculature
- Do Class Name
- disease of anatomical entity
- Disease Definition
- NCI2016_02D:An inherited disorder characterized by degeneration of the spinal cord and the cerebellum. Symptoms may appear at any age and include progressive loss of coordination of gait, hands, speech, and eye movements.|MSH2017_2016_08_12:A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)|MEDLINEPLUS_20151021:<p>Spinal muscular atrophy (SMA) is a genetic disease that attacks nerve cells, called motor neurons, in the spinal cord. These cells communicate with your voluntary muscles - the ones you can control, like in your arms and legs. As the neurons die, the muscles weaken. This can affect walking, crawling, breathing, swallowing, and head and neck control.</p> <p>SMA runs in families. Parents usually have no symptoms, but still carry the gene. Genetic counseling is important if the disease runs in your family.</p> <p>There are many types of SMA. Some of them are fatal. Some people have a normal life expectancy. It depends on the type and how it affects breathing. There is no cure. Treatments help with symptoms and prevent complications. They may include machines to help with breathing, nutritional support, physical therapy, and medicines.</p> <p >NIH: National Institute of Neurological Disorders and Stroke</p>|HPO2016_07_04:Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. [HPO:probinson]
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Spinal Muscular Atrophy
Role
preferred
Name
Bulbospinal Neuronopathy
Role
preferred
Name
Distal Spinal Muscular Atrophy
Role
preferred
Name
Hereditary Motor Neuronopathy
Role
preferred
Name
Myelopathic Muscular Atrophy
Role
preferred
Name
Oculopharyngeal Spinal Muscular Atrophy
Role
preferred
Name
Progressive Muscular Atrophy
Role
preferred
Name
Progressive Proximal Myelopathic Muscular Atrophy
Role
preferred
Name
Scapuloperoneal Form of Spinal Muscular Atrophy
Role
preferred
Name
Muscular Atrophy, Spinal
Role
alias
Name
Scapuloperoneal Spinal Muscular Atrophy
Role
alias
Name
Spinal Muscle Degeneration
Role
alias
Name
Spinal Muscle Wasting
Role
alias
Name
Spinal Muscular Atrophy, Scapuloperoneal
Role
alias
Name
Spinal Muscular Atrophy, Unspecified
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0007269
Herb
HBDIS002002HBDIS006494HBDIS008660HBDIS008661HBDIS008662HBDIS011241HBDIS011242HBDIS012383HBDIS021930
Me Sh
D009134
Omim
181405271220
Umls
C0026847
Icd10
G12.9
Sym Map
SMDE06665SMDE13346
Do Class
DOID:7
Dis Ge Net
C0026847C0270765C0393541C0393546C0393547C0751334C0751335C0917981C3661519
Umls Sty
T047
Hpo Class
HP:0003011
Me Sh Class
C10
Tcmbank Disease
1230713242133731344618509199521287226162517825633
Itcmdb Generated
ITX-DISEASE-C52AA78BC77C
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Do Class Name
disease of anatomical entity
Disease Type
disease
Hpo Class Name
Abnormality of the musculature
Do Disease Class
disease of anatomical entity
Hpo Disease Class
Abnormality of the musculature
Umls Disease Type
Disease or Syndrome
Disease Definition
NCI2016_02D:An inherited disorder characterized by degeneration of the spinal cord and the cerebellum. Symptoms may appear at any age and include progressive loss of coordination of gait, hands, speech, and eye movements.|MSH2017_2016_08_12:A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)|MEDLINEPLUS_20151021:<p>Spinal muscular atrophy (SMA) is a genetic disease that attacks nerve cells, called motor neurons, in the spinal cord. These cells communicate with your voluntary muscles - the ones you can control, like in your arms and legs. As the neurons die, the muscles weaken. This can affect walking, crawling, breathing, swallowing, and head and neck control.</p> <p>SMA runs in families. Parents usually have no symptoms, but still carry the gene. Genetic counseling is important if the disease runs in your family.</p> <p>There are many types of SMA. Some of them are fatal. Some people have a normal life expectancy. It depends on the type and how it affects breathing. There is no cure. Treatments help with symptoms and prevent complications. They may include machines to help with breathing, nutritional support, physical therapy, and medicines.</p> <p >NIH: National Institute of Neurological Disorders and Stroke</p>|HPO2016_07_04:Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. [HPO:probinson]
Me Sh Disease Class
Nervous System Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome