alexander disease

Preferred Label : alexander disease;

MeSH definition : 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.;

MeSH synonym : alexander's disease; alexanders disease; demyelinogenic leukodystrophy; fibrinoid degeneration of astrocytes; leukodystrophy with rosenthal fibers; dysmyelinogenic leukodystrophy;

CISMeF synonym : Alexander;

Wikipedia link : https://en.wikipedia.org/wiki/Alexander disease;

Details

Origin ID

D038261;

UMLS CUI

C0270726;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Alexander [NCIt concept]
- Alexander disease [ACR pathology]
- Alexander view [Radlex concept]
Currated CISMeF NLP mapping
- Alexander Disease [NCIt concept]
- Alexander disease [DO Concept]
- Alexander disease [Disease (Nov.)]
- Alexander disease [PASCAL descriptor]
- Alexander disease [ICD-11 Subcategory]
- Alexander disease [MedDRA Preferred Term]
- Alexander disease [OMIM Phenotype]
- Alexander disease [ORDO Disease]
- Alexander's disease (disorder) [SNOMED CT concept]
- alexander's disease [SNOMED Notion]
DO Cross reference
- Alexander disease [DO Concept]
Has phenotype(s) (HPO)
- Adolescent onset [HPO term]
- Psychomotor regression [HPO term]
Manual NTBT mappings (CISMeF)
- Abnormal eye movements [ORDO Disease]
- Genetic neurodegenerative disease [ORDO Disease]
- Rare neurodegenerative disease [ORDO Disease]
ORDO relation(s)
- Alexander disease [ORDO Disease]
Record concept(s)
- alexander disease [MeSH concept]
Related MeSH Supplementary Concept(s)
- alexanders leukodystrophy [MeSH Supplementary Concept]
See also
- glial fibrillary acidic protein [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alexander Disease [NCIt concept]
- Alexander disease [OMIM Phenotype]
- Alexander disease [ORDO Disease]
- Alexander disease [DO Concept]
- Alexander disease [PASCAL descriptor]
- Alexander disease [Disease (Nov.)]
- Alexander disease [MedDRA Preferred Term]
- Alexander's disease (disorder) [SNOMED CT concept]
- alexander's disease [SNOMED Notion]

Keyword's position in hierarchy(ies) :

Main resources

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