DiseaseID 26132
腓骨肌萎缩症，轴索型，2D型
Charcot-Marie-Tooth Disease, Axonal, Type 2D
NCI2016_02D:Charcot-Marie-Tooth disease inherited in an autosomal dominant pattern. It is caused by mutations in the GARS gene. It results in axonal peripheral neuropathy.
Relationship Network
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Disease: 1Formula: 7Herb: 8Target: 17Links: 39
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26132
- Core Entity Id
- 118700
- Source Entity Count
- 1
- Preferred Name
- Charcot-Marie-Tooth Disease, Axonal, Type 2D
- Name Cn
- 腓骨肌萎缩症，轴索型，2D型
- Name Pinyin
- Fei Gu Ji Wei Suo Zheng ， Zhou Suo Xing ，2d Xing
- Name En
- Charcot-Marie-Tooth Disease, Axonal, Type 2D
- 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:Charcot-Marie-Tooth disease inherited in an autosomal dominant pattern. It is caused by mutations in the GARS gene. It results in axonal peripheral neuropathy.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C1832274
Sym Map
SMDE02065
Etcm Disease
Charcot-Marie-Tooth Disease, Axonal, Type 2d
Itcmdb Generated
ITX-DISEASE-7B2912DB379F
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Page Title
Disease Charcot-Marie-Tooth Disease, Axonal, Type 2d Details page
Basic Information
Disease Name
Charcot-Marie-Tooth Disease, Axonal, Type 2d
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Neuronal diseases;Skin diseases
Disease Definition
NCI2016_02D:Charcot-Marie-Tooth disease inherited in an autosomal dominant pattern. It is caused by mutations in the GARS gene. It results in axonal peripheral neuropathy.