DiseaseID 26376
Charcot-Marie-Tooth病轴索型2B型
Charcot-Marie-Tooth Disease, Axonal, Type 2B
SNOMEDCT_US_2016_09_01:A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. Onset in the second or third decade has manifestations of ulceration and infection of the feet. Symmetric
Relationship Network
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Disease: 1Herb: 12Target: 18Links: 36
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26376
- Core Entity Id
- 118944
- Source Entity Count
- 1
- Preferred Name
- Charcot-Marie-Tooth Disease, Axonal, Type 2B
- Name Cn
- Charcot-Marie-Tooth病轴索型2B型
- Name Pinyin
- Charcot-marie-tooth Bing Zhou Suo Xing 2b Xing
- Name En
- Charcot-Marie-Tooth Disease, Axonal, Type 2B
- 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
- SNOMEDCT_US_2016_09_01:A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. Onset in the second or third decade has manifestations of ulceration and infection of the feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss. Tendon reflexes are only reduced at ankles and foot deformities including pes cavus or planus and hammer toes, appear in childhood.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C1833219
Sym Map
SMDE03184
Etcm Disease
Charcot-Marie-Tooth Disease, Axonal, Type 2b
Itcmdb Generated
ITX-DISEASE-A4833D002DA4
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Page Title
Disease Charcot-Marie-Tooth Disease, Axonal, Type 2b Details page
Basic Information
Disease Name
Charcot-Marie-Tooth Disease, Axonal, Type 2b
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Neuronal diseases;Skin diseases
Disease Definition
SNOMEDCT_US_2016_09_01:A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. Onset in the second or third decade has manifestations of ulceration and infection of the feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss. Tendon reflexes are only reduced at ankles and foot deformities including pes cavus or planus and hammer toes, appear in childhood.