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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:typical adult-onset autosomal dominant demyelinating leukodystrophy
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Accession:DOID:0060785 term browser browse the term
Definition:An adult onset demyelinating leukodystrophy characterized by autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS, presenting in the fourth or fifth decade of life, and that has_material_basis_in a heterozygous tandem genomic duplication on chromosome 5q23 that results in an extra copy of the lamin B1 gene (LMNB1), but also alters regulatory sequences that affect expression of other genes. (DO)
Synonyms:exact_synonym: ADLD;   adult-onset autosomal dominant demyelinating leukodystrophy;   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
 xref: GARD:10587;   MESH:C566813;   MIM:169500;   MONDO:0008215

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typical adult-onset autosomal dominant demyelinating leukodystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Lmnb1 lamin B1 ISO 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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32910914 PMID:33033404 NCBI chrNW_004624774:14,806,585...14,863,543
Ensembl chrNW_004624774:14,805,465...14,863,241 		JBrowse link
G G LMNB1 lamin B1 ISO 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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32910914 PMID:33033404 NCBI chr23:29,759,133...29,814,332
Ensembl chr23:29,759,514...29,814,314 		JBrowse link
G P LMNB1 lamin B1 ISO 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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32910914 PMID:33033404 NCBI chr 2:129,807,228...129,862,211
Ensembl chr 2:129,807,318...129,872,270 		JBrowse link
G S Lmnb1 lamin B1 ISO 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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32910914 PMID:33033404 NCBI chrNW_004936504:157,459...211,916
Ensembl chrNW_004936504:157,453...211,967 		JBrowse link
G D LMNB1 lamin B1 ISO 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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32910914 PMID:33033404 NCBI chr11:15,996,627...16,052,719
Ensembl chr11:15,930,436...16,052,127 		JBrowse link
G B LMNB1 lamin B1 ISO 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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32910914 PMID:33033404 NCBI chr 5:122,179,513...122,240,848
Ensembl chr 5:127,949,457...128,010,721 		JBrowse link
G C Lmnb1 lamin B1 ISO 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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32910914 PMID:33033404 NCBI chrNW_004955521:4,583,691...4,612,271
Ensembl chrNW_004955521:4,583,671...4,612,271 		JBrowse link
G R Lmnb1 lamin B1 ISO
ISS		 DNA:duplication:cds (human)
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
OMIM:169500		 ClinVar
MouseDO
OMIM
RGD		 PMID:25741868 PMID:28492532 PMID:32910914 PMID:33033404 PMID:16951681 RGD:10044243 NCBI chr18:52,373,939...52,413,284
Ensembl chr18:50,175,874...50,214,502 		JBrowse link
G M Lmnb1 lamin B1 ISO
IAGP		 DNA:duplication:cds (human)
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
OMIM:169500		 ClinVar
MouseDO
OMIM
RGD		 PMID:25741868 PMID:28492532 PMID:32910914 PMID:33033404 PMID:16951681 RGD:10044243 NCBI chr18:56,840,885...56,886,496
Ensembl chr18:56,840,885...56,886,496 		JBrowse link
G H LMNB1 lamin B1 IAGP
ISS		 DNA:duplication:cds (human)
ClinVar Annotator: match by term: LMNB1-related condition
ClinVar Annotator: match by term: Leukodystrophy, Adult-Onset
OMIM:169500
ClinVar Annotator: match by term: Syndrome with microcephaly as major feature		 ClinVar
MouseDO
OMIM
RGD		 PMID:25741868 PMID:28492532 PMID:32910914 PMID:33033404 PMID:16951681 RGD:10044243 NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020 		JBrowse link
G H LOC129994507 ATAC-STARR-seq lymphoblastoid silent region 16287 IAGP ClinVar Annotator: match by term: LMNB1-related condition ClinVar PMID:28492532 NCBI chr 5:126,777,853...126,777,902 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 287863
    Developmental Disease 170719
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156537
        genetic disease 151641
          monogenic disease 118175
            autosomal genetic disease 112521
              autosomal dominant disease 157264
                typical adult-onset autosomal dominant demyelinating leukodystrophy 11
Path 2
Term Annotations click to browse term
  disease 287863
    disease of anatomical entity 271541
      nervous system disease 190551
        central nervous system disease 157660
          brain disease 148495
            cerebral degeneration 7527
              leukodystrophy 3124
                adult onset demyelinating leukodystrophy 48
                  typical adult-onset autosomal dominant demyelinating leukodystrophy 11
paths to the root