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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;   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, PMID:23408870, PMID:23411710, PMID:23649896, PMID:23816250, PMID:24034409, PMID:24088041, PMID:24094860, PMID:24198292, PMID:24336230, PMID:24532199, PMID:25012610, PMID:25311247, PMID:25741868, PMID:26633545, PMID:28492532 NCBI chr18:56,414,493...56,458,300
Ensembl chr18:56,414,488...56,458,300
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          brain disease 8328
            Leukoencephalopathies 455
              adult-onset leukoencephalopathy with axonal spheroids and pigmented glia 1
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          monogenic disease 5622
            autosomal genetic disease 4625
              autosomal dominant disease 2993
                adult-onset leukoencephalopathy with axonal spheroids and pigmented glia 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.