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Term:adult-onset autosomal dominant demyelinating leukodystrophy
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Accession:DOID:0060785 term browser browse the term
Definition:A slowly progressive and fatal disorder that presents in the fourth or fifth decade of life and is characterized clinically by early autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS. (OMIM)
Synonyms:exact_synonym: ADLD;   LEUKODYSTROPHY, ADULT-ONSET;   adult-onset autosomal dominant leukodystrophy;   autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease;   multiple sclerosis-like disorder
 primary_id: MESH:C566813
 alt_id: OMIM:169500;   RDO:0015055
 xref: ORDO:99027
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adult-onset autosomal dominant demyelinating leukodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmnb1 lamin B1 JBrowse link 18 51,785,111 51,822,264 RGD:10044243

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15503
    Developmental Diseases 8880
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7677
        genetic disease 7166
          monogenic disease 4811
            autosomal genetic disease 3787
              autosomal dominant disease 2244
                adult-onset autosomal dominant demyelinating leukodystrophy 1
Path 2
Term Annotations click to browse term
  disease 15503
    disease of anatomical entity 14857
      nervous system disease 10273
        central nervous system disease 8410
          brain disease 7763
            Metabolic Brain Diseases 481
              Metabolic Brain Diseases, Inborn 414
                Hereditary Central Nervous System Demyelinating Diseases 39
                  hypomyelinating leukodystrophy 23
                    Pelizaeus-Merzbacher disease 4
                      adult-onset autosomal dominant demyelinating leukodystrophy 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.