DiseaseID 7699
亚历山大病
disease
NCI2016_02D:A rare genetic neurodegenerative disorder which belongs to the group of leukodystrophies. It has a slow and progressive clinical course and is characterized by developmental delay, macrocephaly, seizures, dem
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Disease: 1Experiment: 1Symptom: 12Target: 18Links: 37
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 7699
- Core Entity Id
- 64535
- Source Entity Count
- 1
- Preferred Name
- Alexander Disease
- Name Cn
- 亚历山大病
- Name Pinyin
- Ya Li Shan Da Bing
- Name En
- Alexander Disease
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Do Class
- disease of anatomical entity; genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- genetic disease; disease of anatomical entity
- Disease Definition
- NCI2016_02D:A rare genetic neurodegenerative disorder which belongs to the group of leukodystrophies. It has a slow and progressive clinical course and is characterized by developmental delay, macrocephaly, seizures, dementia and spasticity.|MSH2017_2016_08_12:Rare leukoencephalopathy with infantile-onset accumulation of Rosenthal fibers in the subpial, periventricular, and subependymal zones of the brain. Rosenthal fibers are GLIAL FIBRILLARY ACIDIC PROTEIN aggregates found in ASTROCYTES. Juvenile- and adult-onset types show progressive atrophy of the lower brainstem instead. De novo mutations in the GFAP gene are associated with the disease with propensity for paternal inheritance.|JABL99:A degenerative brain disease. Infantile type is characterized by a rapidly progressive course, seizures, psychomotor retardation, and hydrocephalus. Juvenile type is marked by a protracted course, bulbar palsy, ataxia, and sometimes mental retardation.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Alexander Disease
Role
preferred
Name
ALXDRD
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS006485
Me Sh
D038261
Omim
203450
Umls
C0270726
Sym Map
SMDE04513
Do Class
DOID:630DOID:7
Dis Ge Net
C0270726
Umls Sty
T047
Me Sh Class
C10C16C18
Etcm Disease
Alexander Disease
Tcmbank Disease
10262
Itcmdb Generated
ITX-DISEASE-791D981499AB
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Alexander Disease Details page
Do Class Name
genetic disease; disease of anatomical entity
Disease Type
disease
Do Disease Class
disease of anatomical entity; genetic disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Alexander Disease
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Mental diseases;Neuronal diseases
Disease Definition
NCI2016_02D:A rare genetic neurodegenerative disorder which belongs to the group of leukodystrophies. It has a slow and progressive clinical course and is characterized by developmental delay, macrocephaly, seizures, dementia and spasticity.|MSH2017_2016_08_12:Rare leukoencephalopathy with infantile-onset accumulation of Rosenthal fibers in the subpial, periventricular, and subependymal zones of the brain. Rosenthal fibers are GLIAL FIBRILLARY ACIDIC PROTEIN aggregates found in ASTROCYTES. Juvenile- and adult-onset types show progressive atrophy of the lower brainstem instead. De novo mutations in the GFAP gene are associated with the disease with propensity for paternal inheritance.|JABL99:A degenerative brain disease. Infantile type is characterized by a rapidly progressive course, seizures, psychomotor retardation, and hydrocephalus. Juvenile type is marked by a protracted course, bulbar palsy, ataxia, and sometimes mental retardation.
Me Sh Disease Class
Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome