DiseaseID 26535
脊髓性肌萎缩症III型
Spinal Muscular Atrophy, Type Iii
NCI2016_02D:A rare, autosomal recessive inherited disorder caused by mutations in the SMN1 gene. It is characterized by progressive degeneration and loss of the anterior horn cells in the spinal cord and brain stem. It i
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Disease: 1Symptom: 2Target: 10Links: 12
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26535
- Core Entity Id
- 119103
- Source Entity Count
- 1
- Preferred Name
- Spinal Muscular Atrophy, Type Iii
- Name Cn
- 脊髓性肌萎缩症III型
- Name Pinyin
- Ji Sui Xing Ji Wei Suo Zheng Iii Xing
- Name En
- Spinal Muscular Atrophy, Type Iii
- 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:A rare, autosomal recessive inherited disorder caused by mutations in the SMN1 gene. It is characterized by progressive degeneration and loss of the anterior horn cells in the spinal cord and brain stem. It is manifested with hypotonia and muscle weakness, usually in late childhood or adolescence. Affected individuals can stand and walk but walking and climbing stairs becomes progressively difficult.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Spinal Muscular Atrophy, Type Iii
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C0152109
Sym Map
SMDE03950
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Disease Definition
NCI2016_02D:A rare, autosomal recessive inherited disorder caused by mutations in the SMN1 gene. It is characterized by progressive degeneration and loss of the anterior horn cells in the spinal cord and brain stem. It is manifested with hypotonia and muscle weakness, usually in late childhood or adolescence. Affected individuals can stand and walk but walking and climbing stairs becomes progressively difficult.