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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: Cockayne Pelizaeus Merzbacher Disease;   HLD1;   PMD;   adult Pelizaeus Merzbacher disease;   atypical Pelizaeus Merzbacher disease;   brain Pelizaeus-Merzbacher sclerosis;   classic Pelizaeus Merzbacher Disease;   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.


show annotations for term's descendants           Sort by:
Pelizaeus-Merzbacher disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BEX1 brain expressed, X-linked 1 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:84,223,041...84,224,583
Ensembl chr  X:84,222,959...84,224,613 		JBrowse link
G BEX3 brain expressed X-linked 3 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:84,300,645...84,302,124
Ensembl chr  X:84,300,645...84,302,119 		JBrowse link
G ESX1 ESX homeobox 1 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:84,995,241...85,007,557 JBrowse link
G FAM199X family with sequence similarity 199, X-linked ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:84,937,153...84,966,438
Ensembl chr  X:84,937,209...84,962,406 		JBrowse link
G GJC2 gap junction protein gamma 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:15192806 PMID:23143715 PMID:25741868 PMID:28492532 PMID:31319225 NCBI chr 2:51,257,623...51,267,969
Ensembl chr 2:51,258,207...51,267,962 		JBrowse link
G IL1RAPL2 interleukin 1 receptor accessory protein like 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:85,347,867...86,464,670
Ensembl chr  X:85,347,857...86,463,507 		JBrowse link
G LMNB1 lamin B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:129,807,228...129,862,211
Ensembl chr 2:129,807,318...129,872,270 		JBrowse link
G MORF4L2 mortality factor 4 like 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More... NCBI chr  X:84,553,770...84,566,304
Ensembl chr  X:84,553,774...84,569,030 		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 | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, connatal | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, mild OMIM
ClinVar		 PMID:1376966 PMID:1384324 PMID:1605230 PMID:1707231 PMID:1715570 More... NCBI chr  X:84,676,627...84,683,517
Ensembl chr  X:84,666,733...84,685,058 		JBrowse link
G RAB9B RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, atypical | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, connatal | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, mild ClinVar PMID:1376966 PMID:1384324 PMID:1605230 PMID:1707231 PMID:1715570 More... NCBI chr  X:84,721,269...84,733,000
Ensembl chr  X:84,721,274...84,732,990 		JBrowse link
G SLC25A53 solute carrier family 25 member 53 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:84,860,180...84,871,866
Ensembl chr  X:84,861,739...84,871,871 		JBrowse link
G TCEAL1 transcription elongation factor A like 1 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More... NCBI chr  X:84,518,999...84,521,020
Ensembl chr  X:84,519,005...84,521,009 		JBrowse link
G TCEAL3 transcription elongation factor A like 3 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More... NCBI chr  X:84,485,887...84,490,011 JBrowse link
G TCEAL4 transcription elongation factor A like 4 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 PMID:16380909 More... NCBI chr  X:84,475,232...84,477,380 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:84,192,480...84,193,013 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:84,247,651...84,249,858
Ensembl chr  X:84,247,726...84,249,856 		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:84,175,196...84,177,431
Ensembl chr  X:84,175,200...84,177,427 		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:84,276,985...84,279,377
Ensembl chr  X:84,277,034...84,279,367 		JBrowse link
G TMSB15B thymosin beta 15B ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:84,815,565...84,871,809 JBrowse link
G ZCCHC18 zinc finger CCHC-type containing 18 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:1720927 PMID:9633722 PMID:9634530 PMID:12297985 PMID:12605435 More... NCBI chr  X:84,870,668...84,875,040 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    Developmental Disease 17263
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17177
        genetic disease 17158
          Nervous System Heredodegenerative Disorders 3192
            Hereditary Central Nervous System Demyelinating Diseases 119
              hypomyelinating leukodystrophy 65
                Pelizaeus-Merzbacher disease 20
                  Pelizaeus-Merzbacher like Brain Sclerosis 0
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      nervous system disease 12962
        central nervous system disease 11612
          brain disease 10901
            Metabolic Brain Diseases 1452
              Metabolic Brain Diseases, Inborn 1328
                Hereditary Central Nervous System Demyelinating Diseases 119
                  hypomyelinating leukodystrophy 65
                    Pelizaeus-Merzbacher disease 20
                      Pelizaeus-Merzbacher like Brain Sclerosis 0
paths to the root