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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Alexander disease
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Accession:DOID:4252 term browser browse the term
Definition:A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes. (DO)
Synonyms:exact_synonym: ALXDRD;   Alexander's disease;   Alexanders Leukodystrophy;   Alexanders disease;   Demyelinogenic Leukodystrophy;   GFAP-RELATED CONDITION;   dysmyelinogenic leukodystrophy;   fibrinoid degeneration of astrocytes;   leukodystrophy with Rosenthal fibers
 primary_id: MESH:D038261
 alt_id: DOID:9002692;   MESH:C531607;   OMIA:001208;   OMIM:203450
 xref: GARD:5774;   NCI:C84545;   ORDO:58
For additional species annotation, visit the Alliance of Genome Resources.

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Alexander disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfap glial fibrillary acidic protein ISO ClinVar Annotator: match by term: Alexander disease | ClinVar Annotator: match by term: GFAP-related condition OMIM
ClinVar		 PMID:1941292 PMID:11138011 PMID:11398833 PMID:11567214 PMID:11587071 More... NCBI chrNW_004936541:1,265,915...1,275,232
Ensembl chrNW_004936541:1,265,436...1,275,296 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        neurodegenerative disease 4479
          Nervous System Heredodegenerative Disorders 3073
            Alexander disease 1
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          monogenic disease 9607
            autosomal genetic disease 8891
              autosomal dominant disease 5828
                Alexander disease 1
paths to the root