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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;   GLIOSIS, FAMILIAL PROGRESSIVE SUBCORTICAL;   GPSC;   HDLS;   HDLS1;   LEUKOENCEPHALOPATHY, ADULT-ONSET, WITH AXONAL SPHEROIDS AND PIGMENTED GLIA;   LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 1;   Leukoencephalopathy, diffuse hereditary, with spheroids 1;   adult-onset leukodystrophy with neuroaxonal spheroids;   autosomal dominant leukoencephalopathy with neuroaxonal spheroids;   familial dementia, Neumann type;   familial progressive subcortical gliosis;   hereditary diffuse leukoencephalopathy with axonal spheroids;   hereditary diffuse leukoencephalopathy with spheroids;   hereditary diffuse leukoencephalopathy with spheroids 1;   neuroaxonal leukodystrophy;   subcortical gliosis of Neumann
 broad_synonym: CSF1R-RELATED ADULT-ONSET LEUKOENCEPHALOPATHY;   CSF1R-RELATED CONDITION
 primary_id: MESH:C580150
 alt_id: MIM:221820
 xref: GARD:10981;   NCI:C153289;   ORDO:313808


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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 Aars1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Hereditary diffuse leukoencephalopathy with spheroids ClinVar PMID:6595937 PMID:31775912 NCBI chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147 		JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CSF1R-Related Adult-Onset Leukoencephalopathy | ClinVar Annotator: match by term: CSF1R-related condition | ClinVar Annotator: match by term: Hereditary diffuse leukoencephalopathy with spheroids | ClinVar Annotator: match by term: Leukoencephalopathy, diffuse hereditary, with spheroids 1		 OMIM
CTD
ClinVar		 PMID:2470618 PMID:8614507 PMID:9536098 PMID:16523341 PMID:17576681 More... NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      nervous system disease 14336
        central nervous system disease 12608
          brain disease 11837
            Leukoencephalopathies 603
              adult-onset leukoencephalopathy with axonal spheroids and pigmented glia 2
Path 2
Term Annotations click to browse term
  disease 19102
    Developmental Disease 14601
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        genetic disease 13275
          monogenic disease 10822
            autosomal genetic disease 10302
              autosomal dominant disease 6647
                adult-onset leukoencephalopathy with axonal spheroids and pigmented glia 2
paths to the root