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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 demyelinating leukodystrophy
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Accession:DOID:0051015 term browser browse the term
Definition:A leukodystrophy that is characterized by central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment. (DO)
Synonyms:exact_synonym: autosomal dominant adult-onset demyelinating leukodystrophy;   autosomal dominant leukodystrophy with autonomic disease
 xref: MIM:PS169500;   ORDO:99027


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adult onset 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 chr18:52,208,035...52,240,293
Ensembl chr18:52,204,161...52,240,467 		JBrowse link
G Lmnb1 lamin B1 ISO ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:23733478 PMID:25741868 PMID:28492532 NCBI chr18:52,373,939...52,413,284
Ensembl chr18:52,373,757...52,413,283 		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 chr18:52,251,231...52,267,916
Ensembl chr18:52,248,709...52,267,915 		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 chr18:52,268,703...52,272,037
Ensembl chr18:52,268,665...52,272,041 		JBrowse link
typical adult-onset autosomal dominant demyelinating leukodystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmnb1 lamin B1 ISO
ISS 		DNA:duplication:cds (human)
OMIM:169500
ClinVar Annotator: match by term: LMNB1-related condition | ClinVar Annotator: match by term: Leukodystrophy, Adult-Onset | ClinVar Annotator: match by term: Syndrome with microcephaly as major feature 		MouseDO
ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:32910914 PMID:33033404 PMID:16951681 RGD:10044243 NCBI chr18:52,373,939...52,413,284
Ensembl chr18:52,373,757...52,413,283 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19154
    disease of anatomical entity 18461
      nervous system disease 14368
        central nervous system disease 12644
          brain disease 11865
            cerebral degeneration 683
              leukodystrophy 272
                adult onset demyelinating leukodystrophy 4
                  atypical autosomal dominant adult-onset demyelinating leukodystrophy 0
                  typical adult-onset autosomal dominant demyelinating leukodystrophy 1
paths to the root