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ONTOLOGY REPORT - ANNOTATIONS


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;   Autosomal Dominant Leukoencephalopathy with Neuroaxonal Spheroids;   GPSC;   Gliosis, Familial Progressive Subcortical;   HDLS;   Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids;   Hereditary Diffuse Leukoencephalopathy with Spheroids;   adult-onset leukodystrophy with neuroaxonal spheroids;   familial dementia, Neumann type;   neuroaxonal leukodystrophy;   subcortical gliosis of Neumann
 primary_id: MESH:C580150
 alt_id: DOID:9001474;   OMIM:221820;   RDO:0014220;   RDO:0015893
 xref: GARD:10981;   ORDO:313808
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adult-onset leukoencephalopathy with axonal spheroids and pigmented glia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Csf1r colony stimulating factor 1 receptor JBrowse link 18 56,414,493 56,458,300 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14096
      nervous system disease 9148
        central nervous system disease 6948
          brain disease 6452
            Leukoencephalopathies 435
              adult-onset leukoencephalopathy with axonal spheroids and pigmented glia 1
Path 2
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7782
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7103
        genetic disease 6469
          monogenic disease 3227
            autosomal genetic disease 2164
              autosomal dominant disease 1113
                adult-onset leukoencephalopathy with axonal spheroids and pigmented glia 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.