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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;   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
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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 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        central nervous system disease 8844
          brain disease 8133
            Leukoencephalopathies 440
              adult-onset leukoencephalopathy with axonal spheroids and pigmented glia 1
Path 2
Term Annotations click to browse term
  disease 15992
    Developmental Diseases 9280
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8094
        genetic disease 7612
          monogenic disease 5382
            autosomal genetic disease 4347
              autosomal dominant disease 2713
                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.