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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:Pelizaeus-Merzbacher disease
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Accession:DOID:3210 term browser browse the term
Definition:A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22. (DO)
Synonyms:exact_synonym: Classic Pelizaeus Merzbacher Disease;   Cockayne Pelizaeus Merzbacher Disease;   HLD1;   LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT;   PMD;   Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type;   adult Pelizaeus Merzbacher disease;   atypical Pelizaeus Merzbacher disease;   brain Pelizaeus-Merzbacher sclerosis;   diffuse familial brain sclerosis;   hypomyelinating leukodystrophy 1;   sudanophilic leukodystrophy;   sudanophilic leukodystrophy, Paelizeus-Merzbacher type;   transitional Pelizaeus Merzbacher disease
 narrow_synonym: Pelizaeus-Merzbacher disease, connatal;   Pelizaeus-Merzbacher disease, mild
 primary_id: MESH:D020371
 alt_id: OMIA:000770;   OMIM:312080
 xref: GARD:4265;   NCI:C75487;   ORDO:702
For additional species annotation, visit the Alliance of Genome Resources.


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Pelizaeus-Merzbacher disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BEX2 brain expressed X-linked 2 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:103,309,346...103,310,990
Ensembl chr  X:103,309,346...103,311,007
JBrowse link
G BEX3 brain expressed X-linked 3 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:103,376,323...103,378,164
Ensembl chr  X:103,376,395...103,378,164
JBrowse link
G GJC2 gap junction protein gamma 2 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:23143715 PMID:25741868 PMID:31319225 NCBI chr 1:228,149,930...228,159,826
Ensembl chr 1:228,149,930...228,159,826
JBrowse link
G LMNB1 lamin B1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020
JBrowse link
G MORF4L2 mortality factor 4 like 2 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:103,675,498...103,688,047
Ensembl chr  X:103,675,496...103,688,158
JBrowse link
G PLP1 proteolipid protein 1 TAS
IAGP
EXP
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.A246T (human)
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, connatal
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, mild
ClinVar
CTD
OMIM
PMID:1376966 PMID:1384324 PMID:1605230 PMID:1707231 PMID:1715570 PMID:1720927 PMID:2479017 PMID:2480601 PMID:2773936 PMID:3827224 PMID:7573159 PMID:7574457 PMID:7683951 PMID:8696336 PMID:8723686 PMID:8786077 PMID:9056547 PMID:9482656 PMID:9633722 PMID:9634530 PMID:11071483 PMID:12297985 PMID:12605435 PMID:12910435 PMID:16380909 PMID:18571143 PMID:18835559 PMID:19396823 PMID:20301361 PMID:24088041 PMID:25326635 PMID:25491635 PMID:25741868 PMID:26125040 PMID:26467025 PMID:26633545 PMID:27535533 PMID:28492532 PMID:29451896 PMID:31690835, PMID:14572140, PMID:10425042 RGD:1358783, RGD:1358559 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619
JBrowse link
G RAB40A RAB40A, member RAS oncogene family IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:103,499,130...103,519,489
Ensembl chr  X:103,499,130...103,519,489
JBrowse link
G RAB9B RAB9B, member RAS oncogene family IAGP ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, connatal
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, mild
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical
ClinVar PMID:1376966 PMID:1384324 PMID:1605230 PMID:1707231 PMID:1715570 PMID:2479017 PMID:2480601 PMID:2773936 PMID:3827224 PMID:7573159 PMID:7574457 PMID:7683951 PMID:8696336 PMID:8723686 PMID:8786077 PMID:9056547 PMID:9482656 PMID:11071483 PMID:12910435 PMID:19396823 PMID:20301361 PMID:24088041 PMID:25326635 PMID:25491635 PMID:25741868 PMID:26125040 PMID:26467025 PMID:26633545 PMID:27535533 PMID:28492532 PMID:29451896 PMID:31690835 NCBI chr  X:103,776,324...103,832,257
Ensembl chr  X:103,822,327...103,832,257
JBrowse link
G TCEAL1 transcription elongation factor A like 1 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:103,628,716...103,630,953
Ensembl chr  X:103,628,704...103,630,953
JBrowse link
G TCEAL3 transcription elongation factor A like 3 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:103,607,963...103,609,927
Ensembl chr  X:103,607,451...103,629,690
JBrowse link
G TCEAL4 transcription elongation factor A like 4 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:103,576,231...103,587,729
Ensembl chr  X:103,576,231...103,587,729
JBrowse link
G TCEAL5 transcription elongation factor A like 5 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:103,273,691...103,276,750
Ensembl chr  X:103,273,691...103,276,750
JBrowse link
G TCEAL7 transcription elongation factor A like 7 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:103,330,239...103,332,326
Ensembl chr  X:103,330,229...103,332,326
JBrowse link
G TCEAL8 transcription elongation factor A like 8 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:103,252,995...103,255,155
Ensembl chr  X:103,252,995...103,255,192
JBrowse link
G TCEAL9 transcription elongation factor A like 9 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:103,356,506...103,358,462
Ensembl chr  X:103,356,489...103,358,462
JBrowse link
G TMEM31 transmembrane protein 31 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:103,710,909...103,714,032
Ensembl chr  X:103,710,909...103,714,032
JBrowse link
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 IAGP DNA:duplication:cds (human)
ClinVar Annotator: match by term: Leukodystrophy, adult-onset, autosomal dominant
ClinVar Annotator: match by term: Syndrome with microcephaly as major feature
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: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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20160
    Developmental Disease 13718
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11228
        genetic disease 10695
          Nervous System Heredodegenerative Disorders 2445
            Hereditary Central Nervous System Demyelinating Diseases 63
              hypomyelinating leukodystrophy 43
                Pelizaeus-Merzbacher disease 16
                  Pelizaeus-Merzbacher like Brain Sclerosis 0
                  adult-onset autosomal dominant demyelinating leukodystrophy 1
Path 2
Term Annotations click to browse term
  disease 20160
    disease of anatomical entity 18757
      nervous system disease 14794
        central nervous system disease 12970
          brain disease 12188
            Metabolic Brain Diseases 677
              Metabolic Brain Diseases, Inborn 605
                Hereditary Central Nervous System Demyelinating Diseases 63
                  hypomyelinating leukodystrophy 43
                    Pelizaeus-Merzbacher disease 16
                      Pelizaeus-Merzbacher like Brain Sclerosis 0
                      adult-onset autosomal dominant demyelinating leukodystrophy 1
paths to the root