DiseaseID 26327
GM1神经节苷脂贮积症III型
Gm1-Gangliosidosis, Type Iii
JABL99:A ganglioside storage disorder caused by beta-galactosidase (EC 3.2.1.23) deficiency with resulting accumulation of excessive amounts of ganglioside GM1 in the brain tissue with less severe abnormalities than thos
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Disease: 1Symptom: 2Target: 18Links: 26
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26327
- Core Entity Id
- 118895
- Source Entity Count
- 1
- Preferred Name
- Gm1-Gangliosidosis, Type Iii
- Name Cn
- GM1神经节苷脂贮积症III型
- Name Pinyin
- Gm1 Shen Jing Jie Gan Zhi Zhu Ji Zheng Iii Xing
- Name En
- Gm1-Gangliosidosis, 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
- JABL99:A ganglioside storage disorder caused by beta-galactosidase (EC 3.2.1.23) deficiency with resulting accumulation of excessive amounts of ganglioside GM1 in the brain tissue with less severe abnormalities than those seen in other gangliosidoses and inconsistent phenotype. Onset takes place in late teens or early adult life with cerebellar dysfunction, visual problems, and coarsening of facial features. Intellectual impairment is mild at first but intelligence tends to deteriorate in time.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Gm1-Gangliosidosis, Type Iii
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C0268273
Sym Map
SMDE02974
Etcm Disease
Gm1-Gangliosidosis, Type Iii
Itcmdb Generated
ITX-DISEASE-00A0036C98FE
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Page Title
Disease Gm1-Gangliosidosis, Type Iii Details page
Basic Information
Disease Name
Gm1-Gangliosidosis, Type Iii
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases;Liver diseases;Neuronal diseases
Disease Definition
JABL99:A ganglioside storage disorder caused by beta-galactosidase (EC 3.2.1.23) deficiency with resulting accumulation of excessive amounts of ganglioside GM1 in the brain tissue with less severe abnormalities than those seen in other gangliosidoses and inconsistent phenotype. Onset takes place in late teens or early adult life with cerebellar dysfunction, visual problems, and coarsening of facial features. Intellectual impairment is mild at first but intelligence tends to deteriorate in time.