DiseaseID 26530
夏科-马里-图斯病脱髓鞘型1A型
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
NCI2016_02D:Charcot-Marie-Tooth disease caused by mutations in the PMP22 gene (mapped to chromosome 17), resulting in peripheral nerve demyelination.
Relationship Network
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Disease: 1Herb: 12Symptom: 1Target: 19Links: 37
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26530
- Core Entity Id
- 119098
- Source Entity Count
- 1
- Preferred Name
- Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
- Name Cn
- 夏科-马里-图斯病脱髓鞘型1A型
- Name Pinyin
- Xia Ke - Ma Li - Tu Si Bing Tuo Sui Qiao Xing 1a Xing
- Name En
- Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
- 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 caused by mutations in the PMP22 gene (mapped to chromosome 17), resulting in peripheral nerve demyelination.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C0270911
Sym Map
SMDE03940
Etcm Disease
Charcot-Marie-Tooth Disease, Demyelinating, Type 1a
Itcmdb Generated
ITX-DISEASE-791D806B3BB2
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Page Title
Disease Charcot-Marie-Tooth Disease, Demyelinating, Type 1a Details page
Basic Information
Disease Name
Charcot-Marie-Tooth Disease, Demyelinating, Type 1a
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Muscle diseases;Neuronal diseases
Disease Definition
NCI2016_02D:Charcot-Marie-Tooth disease caused by mutations in the PMP22 gene (mapped to chromosome 17), resulting in peripheral nerve demyelination.