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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:adult-onset autosomal dominant demyelinating leukodystrophy
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Accession:DOID:0060785 term browser browse the term
Definition:A leukodystrophy characterized by onset in the 4th or 5th decade of life of autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS that has_material_basis_in heterozygous tandem genomic duplication resulting in an extra copy of the LMNB1 gene on chromosome 5q. (DO)
Synonyms:exact_synonym: ADLD;   adult-onset autosomal dominant leukodystrophy;   adult-onset leukodystrophy;   autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease;   multiple sclerosis-like disorder
 narrow_synonym: SYNDROME WITH MICROCEPHALY AS MAJOR FEATURE
 broad_synonym: LMNB1-RELATED CONDITION
 primary_id: MESH:C566813
 alt_id: OMIM:169500
 xref: GARD:10587;   ORDO:99027


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adult-onset autosomal dominant demyelinating leukodystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh7a1 aldehyde dehydrogenase 7 family member A1 ISO ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chrNW_004936575:6,467,224...6,506,052
Ensembl chrNW_004936575:6,467,340...6,506,006
JBrowse link
G Lmnb1 lamin B1 ISO ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy | ClinVar Annotator: match by term: Leukodystrophy, Adult-Onset | ClinVar Annotator: match by term: Syndrome with microcephaly as major feature OMIM
ClinVar
PMID:16951681 PMID:19151023 PMID:21225301 PMID:21909802 PMID:23649844 More... NCBI chrNW_004936504:157,459...211,916
Ensembl chrNW_004936504:157,453...211,967
JBrowse link
G Phax phosphorylated adaptor for RNA export ISO ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chrNW_004936504:1,585...14,592
Ensembl chrNW_004936504:1,639...14,031
JBrowse link
G Spmip10 sperm microtubule inner protein 10 ISO ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chrNW_004936504:16,757...22,923
Ensembl chrNW_004936504:16,757...22,923
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14107
      nervous system disease 12321
        central nervous system disease 11034
          brain disease 10356
            cerebral degeneration 611
              leukodystrophy 248
                adult-onset autosomal dominant demyelinating leukodystrophy 4
paths to the root