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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:central pontine myelinolysis
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Accession:DOID:636 term browser browse the term
Definition:A demyelination disease that is characterized by severe damage to the myelin sheath of the pons' nerve cells and has_symptom acute paralysis, has_symptom dysphagia, and has_symptom dysarthria. (DO)
Synonyms:exact_synonym: Central Pontine Myelinoclasis;   Extrapontine Myelinoclasis;   Extrapontine Myelinolyses;   extrapontine myelinoclases;   extrapontine myelinolysis;   osmotic demyelination syndrome
 primary_id: MESH:D017590
 xref: EFO:1000857;   GARD:8749;   ICD10CM:G37.2;   NCI:C84623
For additional species annotation, visit the Alliance of Genome Resources.


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central pontine myelinolysis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp1 aquaporin 1 ISO protein:altered expression:basal part of pons: RGD PMID:24252214 RGD:8696006 NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690 		JBrowse link
G Aqp4 aquaporin 4 ISO protein:altered expression:basal part of pons: RGD PMID:24252214 RGD:8696006 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    Nutritional and Metabolic Diseases 8266
      disease of metabolism 8266
        Metabolic Brain Diseases 1511
          central pontine myelinolysis 2
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      nervous system disease 14120
        central nervous system disease 12440
          neurodegenerative disease 4911
            demyelinating disease 528
              central pontine myelinolysis 2
paths to the root