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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:LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT
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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.
Synonyms:exact_synonym: ADLD;   Autosomal dominant adult-onset demyelinating leukodystrophy;   LEUKODYSTROPHY, ADULT-ONSET;   PELIZAEUS-MERZBACHER DISEASE, AUTOSOMAL DOMINANT OR LATE-ONSET TYPE;   adult-onset autosomal dominant demyelinating leukodystrophy;   adult-onset autosomal dominant leukodystrophy;   autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease;   multiple sclerosis-like disorder
 narrow_synonym: SYNDROME WITH MICROCEPHALY AS MAJOR FEATURE
 primary_id: MESH:C566813
 alt_id: OMIM:169500;   RDO:0015055
 xref: GARD:10587;   ORDO:99027
For additional species annotation, visit the Alliance of Genome Resources.

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LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmnb1 lamin B1 ISO DNA:duplication:cds (human)
ClinVar Annotator: match by term: Leukodystrophy, adult-onset, autosomal dominant
ClinVar Annotator: match by term: Leukodystrophy, Adult-Onset		 ClinVar
OMIM		 PMID:16951681 PMID:19151023 PMID:21225301 PMID:21909802 PMID:23649844 PMID:25741868 PMID:28492532, PMID:16951681 RGD:10044243 NCBI chr18:51,785,111...51,822,264
Ensembl chr18:51,785,111...51,822,264 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal dominant disease 3034
                LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            Metabolic Brain Diseases 579
              Metabolic Brain Diseases, Inborn 509
                Hereditary Central Nervous System Demyelinating Diseases 41
                  hypomyelinating leukodystrophy 25
                    Pelizaeus-Merzbacher disease 4
                      LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT 1
paths to the root