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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 PMID:11587071 PMID:11595337 PMID:11867077 PMID:12026242 PMID:12034785 PMID:12034796 PMID:12368989 PMID:12447932 PMID:12581808 PMID:12638020 PMID:12944715 PMID:12975300 PMID:14550921 PMID:14557587 PMID:15030911 PMID:15390001 PMID:15465095 PMID:15477559 PMID:15675360 PMID:15696488 PMID:15732097 PMID:15732098 PMID:16168593 PMID:16168595 PMID:16217707 PMID:16240361 PMID:16505300 PMID:16826512 PMID:16996408 PMID:17043438 PMID:17110673 PMID:17156703 PMID:17383133 PMID:17438228 PMID:17509491 PMID:17629821 PMID:17703343 PMID:17805552 PMID:17894839 PMID:17934883 PMID:17960815 PMID:17985264 PMID:18054694 PMID:18079314 PMID:18217876 PMID:18388212 PMID:18402384 PMID:18495313 PMID:18581469 PMID:18584981 PMID:18653683 PMID:18684770 PMID:19128991 PMID:19418047 PMID:19618846 PMID:19672978 PMID:19948199 PMID:20849398 PMID:21041050 PMID:21132324 PMID:21165639 PMID:21270471 PMID:21533827 PMID:21572052 PMID:21822933 PMID:21917775 PMID:21940697 PMID:21987397 PMID:22140645 PMID:22198646 PMID:22302460 PMID:22488673 PMID:22566711 PMID:22619055 PMID:22818990 PMID:23149175 PMID:23185175 PMID:23254569 PMID:23430549 PMID:23634874 PMID:23706596 PMID:23743246 PMID:23903069 PMID:23925719 PMID:24045243 PMID:24188966 PMID:24306001 PMID:24427505 PMID:24742911 PMID:24755947 PMID:25741868 PMID:26467025 PMID:26478912 PMID:26486469 PMID:27814755 PMID:28492532 PMID:28953922 PMID:30213442 PMID:30311386 PMID:31484723 PMID:219025661 NCBI chr10:90,990,762...90,999,435
Ensembl chr10:90,990,762...90,999,506
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        neurodegenerative disease 3235
          Nervous System Heredodegenerative Disorders 1952
            Alexander disease 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal dominant disease 3058
                Alexander disease 1
paths to the root