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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 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:99,019,847...99,021,375
Ensembl chr  X:99,019,000...99,021,503 		JBrowse link
G Bex3 brain expressed X-linked 3 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:99,273,238...99,274,799
Ensembl chr  X:99,273,161...99,274,800 		JBrowse link
G Gjc2 gap junction protein, gamma 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:23143715 PMID:25741868 PMID:31319225 NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467 		JBrowse link
G Lmnb1 lamin B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:50,175,861...50,215,210
Ensembl chr18:50,175,874...50,214,502 		JBrowse link
G Morf4l2 mortality factor 4 like 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:100,082,562...100,093,658
Ensembl chr  X:100,082,404...100,093,728 		JBrowse link
G Plp1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical
DNA:missense mutation:cds:p.A246T (human)
ClinVar Annotator: match by OMIM:312080
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical, UMLS MESH term: Atypical Pelizaeus Merzbacher Disease
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, connatal
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, mild
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD
RGD		 PMID:1376966 PMID:1384324 PMID:1605230 PMID:1707231 PMID:1715570 More... RGD:1358783, RGD:1358559 NCBI chr  X:100,184,039...100,201,035
Ensembl chr  X:100,185,767...100,201,032 		JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO 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 More... NCBI chr  X:100,220,897...100,231,591
Ensembl chr  X:100,220,894...100,231,701 		JBrowse link
G Tceal1 transcription elongation factor A like 1 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:100,058,485...100,060,439
Ensembl chr  X:100,058,132...100,060,551 		JBrowse link
G Tceal3 transcription elongation factor A like 3 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:100,010,675...100,012,637
Ensembl chr  X:100,010,690...100,012,654 		JBrowse link
G Tceal5 transcription elongation factor A like 5 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:99,204,422...99,207,373
Ensembl chr  X:99,204,429...99,207,353 		JBrowse link
G Tceal7 transcription elongation factor A like 7 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:99,228,405...99,230,551
Ensembl chr  X:99,228,458...99,230,543 		JBrowse link
G Tceal8 transcription elongation factor A like 8 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:99,171,307...99,173,377
Ensembl chr  X:99,171,177...99,173,710 		JBrowse link
G Tceal9 transcription elongation factor A like 9 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:99,245,645...99,247,715
Ensembl chr  X:99,228,458...99,247,763 		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 ISO DNA:duplication:cds (human)
ClinVar Annotator: match by term: Syndrome with microcephaly as major feature
ClinVar Annotator: match by term: Leukodystrophy, Adult-Onset
ClinVar Annotator: match by term: Leukodystrophy, adult-onset, autosomal dominant		 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          Nervous System Heredodegenerative Disorders 2133
            Hereditary Central Nervous System Demyelinating Diseases 52
              hypomyelinating leukodystrophy 35
                Pelizaeus-Merzbacher disease 13
                  Pelizaeus-Merzbacher like Brain Sclerosis 0
                  adult-onset autosomal dominant demyelinating leukodystrophy 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            Metabolic Brain Diseases 611
              Metabolic Brain Diseases, Inborn 540
                Hereditary Central Nervous System Demyelinating Diseases 52
                  hypomyelinating leukodystrophy 35
                    Pelizaeus-Merzbacher disease 13
                      Pelizaeus-Merzbacher like Brain Sclerosis 0
                      adult-onset autosomal dominant demyelinating leukodystrophy 1
paths to the root