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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
 xref: GARD:10587;   MESH:C566813;   MIM:169500;   MONDO:0008215;   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 N Aldh7a1 aldehyde dehydrogenase 7 family member A1 ISO ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chrNW_004624774:15,048,825...15,099,443
Ensembl chrNW_004624774:15,048,627...15,101,856 		JBrowse link
G G ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr23:29,539,897...29,589,004 JBrowse link
G P ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr 2:129,663,226...129,709,728
Ensembl chr 2:129,662,969...129,709,705 		JBrowse link
G S 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 D ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr11:15,828,581...15,878,556
Ensembl chr11:15,815,936...15,878,516 		JBrowse link
G B ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr 5:121,946,527...122,000,273
Ensembl chr 5:127,718,978...127,771,047 		JBrowse link
G C Aldh7a1 aldehyde dehydrogenase 7 family member A1 ISO ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chrNW_004955521:4,365,075...4,396,105
Ensembl chrNW_004955521:4,364,638...4,396,129 		JBrowse link
G R Aldh7a1 aldehyde dehydrogenase 7 family, member A1 ISO ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr18:50,003,242...50,042,193
Ensembl chr18:50,009,934...50,042,193 		JBrowse link
G M Aldh7a1 aldehyde dehydrogenase family 7, member A1 ISO ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr18:56,657,794...56,706,112
Ensembl chr18:56,642,759...56,706,023 		JBrowse link
G H ALDH7A1 aldehyde dehydrogenase 7 family member A1 IAGP ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr 5:126,541,841...126,595,219
Ensembl chr 5:126,531,200...126,595,362 		JBrowse link
G N 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_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: 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 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: 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 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: 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 D 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 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: 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 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: 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_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)
OMIM:169500
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		 MouseDO
ClinVar
OMIM
RGD		 PMID:16951681 PMID:19151023 PMID:21225301 PMID:21909802 PMID:23649844 More... RGD:10044243 NCBI chr18:50,175,861...50,215,210
Ensembl chr18:50,175,874...50,214,502 		JBrowse link
G M Lmnb1 lamin B1 ISO
IAGP		 DNA:duplication:cds (human)
OMIM:169500
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		 MouseDO
ClinVar
OMIM
RGD		 PMID:16951681 PMID:19151023 PMID:21225301 PMID:21909802 PMID:23649844 More... 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: Adult-onset autosomal dominant demyelinating leukodystrophy | 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:16951681 PMID:19151023 PMID:21225301 PMID:21909802 PMID:23649844 More... RGD:10044243 NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020 		JBrowse link
G H LMNB1-DT LMNB1 divergent transcript IAGP ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr 5:126,751,963...126,776,486
Ensembl chr 5:126,751,960...126,776,546 		JBrowse link
G H LOC112997555 Sharpr-MPRA regulatory region 10286 IAGP ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr 5:126,543,737...126,544,031 JBrowse link
G H LOC129389358 MPRA-validated peak5455 silencer IAGP ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr 5:126,567,723...126,567,923 JBrowse link
G H LOC129389359 MPRA-validated peak5456 silencer IAGP ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr 5:126,624,803...126,625,003 JBrowse link
G H LOC129994503 ATAC-STARR-seq lymphoblastoid active region 23023 IAGP ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr 5:126,544,398...126,544,447 JBrowse link
G H LOC129994504 ATAC-STARR-seq lymphoblastoid active region 23024 IAGP ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr 5:126,748,106...126,748,155 JBrowse link
G H LOC129994505 ATAC-STARR-seq lymphoblastoid active region 23025 IAGP ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr 5:126,758,812...126,758,881 JBrowse link
G N Phax phosphorylated adaptor for RNA export ISO ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chrNW_004624774:15,006,115...15,029,252
Ensembl chrNW_004624774:15,006,852...15,029,177 		JBrowse link
G G PHAX phosphorylated adaptor for RNA export ISO ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr23:29,594,021...29,618,189
Ensembl chr23:29,594,165...29,619,830 		JBrowse link
G P PHAX phosphorylated adaptor for RNA export ISO ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr 2:129,713,643...129,724,524
Ensembl chr 2:129,713,643...129,724,535 		JBrowse link
G S 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 D PHAX phosphorylated adaptor for RNA export ISO ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr11:15,884,765...15,900,121
Ensembl chr11:15,887,960...15,899,119 		JBrowse link
G B PHAX phosphorylated adaptor for RNA export ISO ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr 5:122,005,976...122,032,326
Ensembl chr 5:127,776,529...127,803,619 		JBrowse link
G C Phax phosphorylated adaptor for RNA export ISO ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chrNW_004955521:4,425,382...4,442,668
Ensembl chrNW_004955521:4,425,426...4,443,082 		JBrowse link
G R Phax phosphorylated adaptor for RNA export ISO ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr18:50,053,133...50,069,823
Ensembl chr18:50,053,023...50,069,823 		JBrowse link
G M Phax phosphorylated adaptor for RNA export ISO ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr18:56,695,641...56,720,784
Ensembl chr18:56,695,515...56,720,784 		JBrowse link
G H PHAX phosphorylated adaptor for RNA export IAGP ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr 5:126,600,947...126,627,252
Ensembl chr 5:126,600,925...126,627,252 		JBrowse link
G N Spmip10 sperm microtubule inner protein 10 ISO ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chrNW_004624774:14,999,884...15,004,496 JBrowse link
G G SPMIP10 sperm microtubule inner protein 10 ISO ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr23:29,623,875...29,629,039
Ensembl chr23:29,624,270...29,628,993 		JBrowse link
G P SPMIP10 sperm microtubule inner protein 10 ISO ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr 2:129,726,789...129,731,851
Ensembl chr 2:129,726,961...129,731,452 		JBrowse link
G S 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
G D SPMIP10 sperm microtubule inner protein 10 ISO ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr11:15,903,585...15,908,557
Ensembl chr11:15,902,682...15,908,557 		JBrowse link
G B SPMIP10 sperm microtubule inner protein 10 ISO ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr 5:122,036,540...122,041,382
Ensembl chr 5:127,808,143...127,812,790 		JBrowse link
G C Spmip10 sperm microtubule inner protein 10 ISO ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chrNW_004955521:4,444,948...4,448,702
Ensembl chrNW_004955521:4,444,968...4,448,791 		JBrowse link
G R Spmip10 sperm microtubule inner protein 10 ISO ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr18:50,070,610...50,073,942
Ensembl chr18:50,070,610...50,073,942 		JBrowse link
G M Spmip10 sperm microtubule inner protein 10 ISO ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr18:56,720,690...56,727,855
Ensembl chr18:56,721,422...56,727,854 		JBrowse link
G H SPMIP10 sperm microtubule inner protein 10 IAGP ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy ClinVar PMID:25741868 NCBI chr 5:126,631,705...126,636,284
Ensembl chr 5:126,631,705...126,636,284 		JBrowse link
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  disease 238296
    disease of anatomical entity 228736
      nervous system disease 172014
        central nervous system disease 144482
          brain disease 135728
            cerebral degeneration 7503
              leukodystrophy 3100
                adult-onset autosomal dominant demyelinating leukodystrophy 47
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