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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:adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
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Accession:DOID:0080523 term browser browse the term
Definition:A leukodystrophy that is characterized by progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy and has_material_basis_in heterozygous mutation in the CSF1R gene on chromosome 5q32. (DO)
Synonyms:exact_synonym: ALSP;   GPSC;   Gliosis, Familial Progressive Subcortical;   HDLS;   Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids;   adult-onset leukodystrophy with neuroaxonal spheroids;   autosomal dominant leukoencephalopathy with neuroaxonal spheroids;   familial dementia, Neumann type;   hereditary diffuse leukoencephalopathy with spheroids;   neuroaxonal leukodystrophy;   subcortical gliosis of Neumann
 primary_id: MESH:C580150
 alt_id: OMIM:221820;   RDO:0014220;   RDO:0015893
 xref: GARD:10981;   NCI:C153289;   ORDO:313808
For additional species annotation, visit the Alliance of Genome Resources.



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adult-onset leukoencephalopathy with axonal spheroids and pigmented glia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf1r colony stimulating factor 1 receptor ISO ClinVar Annotator: match by OMIM:221820
ClinVar Annotator: match by term: Hereditary diffuse leukoencephalopathy with spheroids
ClinVar
OMIM
PMID:2470618 PMID:8614507 PMID:16523341 PMID:19153373 PMID:22197934 More... NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    disease of anatomical entity 16600
      nervous system disease 12140
        central nervous system disease 10411
          brain disease 9772
            Leukoencephalopathies 498
              adult-onset leukoencephalopathy with axonal spheroids and pigmented glia 1
Path 2
Term Annotations click to browse term
  disease 17256
    Developmental Disease 10968
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9504
        genetic disease 9008
          monogenic disease 7172
            autosomal genetic disease 6319
              autosomal dominant disease 4482
                adult-onset leukoencephalopathy with axonal spheroids and pigmented glia 1
paths to the root