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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 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
 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 OMIM:203450
ClinVar Annotator: match by term: Alexander's disease
ClinVar Annotator: match by term: Alexander Disease
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1250985 PMID:1941292 PMID:11138011 PMID:11398833 PMID:11567214 More... NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        neurodegenerative disease 3521
          Nervous System Heredodegenerative Disorders 2133
            Alexander disease 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                Alexander disease 1
paths to the root