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ONTOLOGY REPORT - ANNOTATIONS


Term:Alexander Disease
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Accession:DOID:4252 term browser browse the term
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.
Synonyms:exact_synonym: ALXDRD;   Alexander's Disease;   Alexanders Disease;   Alexanders Leukodystrophy;   Demyelinogenic Leukodystrophy;   Dysmyelinogenic Leukodystrophy;   Fibrinoid Degeneration of Astrocytes;   Leukodystrophy with Rosenthal Fibers
 primary_id: MESH:D038261
 alt_id: DOID:9002692;   MESH:C531607;   OMIA:001208;   OMIM:203450;   RDO:0000025;   RDO:0000026
 xref: GARD:5774;   NCI:C84545
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Alexander Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc103 coiled-coil domain containing 103 JBrowse link 10 90,984,213 90,987,829 RGD:8554872
G Gfap glial fibrillary acidic protein JBrowse link 10 90,990,762 90,999,435 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        neurodegenerative disease 2691
          Nervous System Heredodegenerative Disorders 1718
            Alexander Disease 2
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                Alexander Disease 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.