ONTOLOGY REPORT - ANNOTATIONS


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
RGD:8554872
RGD:7240710

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Path 1
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  disease 14920
    Developmental Diseases 7769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7091
        genetic disease 6451
          monogenic disease 3222
            autosomal genetic disease 2160
              autosomal dominant disease 1111
                adult-onset autosomal dominant demyelinating leukodystrophy 1
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        central nervous system disease 6948
          brain disease 6454
            Metabolic Brain Diseases 446
              Metabolic Brain Diseases, Inborn 390
                Hereditary Central Nervous System Demyelinating Diseases 42
                  hypomyelinating leukodystrophy 28
                    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.