DiseaseID 25908

脊髓性肌萎缩症Ⅰ型

Spinal Muscular Atrophy, Type I

NCI2016_02D:The most severe form of spinal muscular atrophy. It is manifested in the first year of life with muscle weakness, poor muscle tone, and lack of motor development. The motor neuron death affects the major orga

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Disease: 1Target: 8Links: 8
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Record Fields

Scalar fields from the final disease record.

Disease Id
25908
Core Entity Id
118476
Source Entity Count
1
Preferred Name
Spinal Muscular Atrophy, Type I
Name Cn
脊髓性肌萎缩症Ⅰ型
Name Pinyin
Ji Sui Xing Ji Wei Suo Zheng Ⅰ Xing
Name En
Spinal Muscular Atrophy, Type I
Name Latin
Bilingual Status
complete
Disease Type
Umls Disease Type
Disgenet Type
Mesh Class
Do Class
Hpo Class
Mesh Class Name
Hpo Class Name
Do Class Name
Disease Definition
NCI2016_02D:The most severe form of spinal muscular atrophy. It is manifested in the first year of life with muscle weakness, poor muscle tone, and lack of motor development. The motor neuron death affects the major organ systems, particularly the respiratory system. Most patients die before the age of two secondary to pneumonia.
Version
v1
Suppressed
No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name
Spinal Muscular Atrophy, Type I
Role
preferred
Source
SymMap_v2
Preferred
Yes

Cross References

Trusted external identifiers retained for this final record.

Umls
C0043116
Sym Map
SMDE00932

Attributes

Merged source attributes and domain-specific metadata.

Version
v1
Suppress
0
Disease Definition
NCI2016_02D:The most severe form of spinal muscular atrophy. It is manifested in the first year of life with muscle weakness, poor muscle tone, and lack of motor development. The motor neuron death affects the major organ systems, particularly the respiratory system. Most patients die before the age of two secondary to pneumonia.