DiseaseID 25889
GM2神经节苷脂贮积症AB变异型
Gm2-Gangliosidosis, Ab Variant
MSH2017_2016_08_12:A progressive neurodegenerative disorder that begins with muscle weakness, then progresses to startle reaction, retardation and seizures. It is characterized by the accumulation of G(M2) GANGLIOSIDE in
Relationship Network
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Disease: 1Formula: 20Herb: 2Symptom: 4Target: 19Links: 50
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 25889
- Core Entity Id
- 118457
- Source Entity Count
- 1
- Preferred Name
- Gm2-Gangliosidosis, Ab Variant
- Name Cn
- GM2神经节苷脂贮积症AB变异型
- Name Pinyin
- Gm2 Shen Jing Jie Gan Zhi Zhu Ji Zheng Ab Bian Yi Xing
- Name En
- Gm2-Gangliosidosis, Ab Variant
- 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
- MSH2017_2016_08_12:A progressive neurodegenerative disorder that begins with muscle weakness, then progresses to startle reaction, retardation and seizures. It is characterized by the accumulation of G(M2) GANGLIOSIDE in neurons that is caused by a lack of G(M2) ACTIVATOR PROTEIN function. The AB variant designation refers to the increase of both HEXOSAMINIDASE A and HEXOSAMINIDASE B in tissues that lack of G(M2) activator protein.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Gm2-Gangliosidosis, Ab Variant
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C0268275
Sym Map
SMDE00823
Etcm Disease
Gm2-Gangliosidosis, Ab Variant
Itcmdb Generated
ITX-DISEASE-1EA215230BB7
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Gm2-Gangliosidosis, Ab Variant Details page
Basic Information
Disease Name
Gm2-Gangliosidosis, Ab Variant
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases;Liver diseases;Neuronal diseases
Disease Definition
MSH2017_2016_08_12:A progressive neurodegenerative disorder that begins with muscle weakness, then progresses to startle reaction, retardation and seizures. It is characterized by the accumulation of G(M2) GANGLIOSIDE in neurons that is caused by a lack of G(M2) ACTIVATOR PROTEIN function. The AB variant designation refers to the increase of both HEXOSAMINIDASE A and HEXOSAMINIDASE B in tissues that lack of G(M2) activator protein.