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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 demyelinating condition affecting the PONS and characterized clinically by an acute progressive QUADRIPLEGIA; DYSARTHRIA; DYSPHAGIA; and alterations of consciousness. Pathologic features include prominent demyelination in the central PONS with sparing of axons and neurons. This condition is usually associated with systemic disorders such as HYPONATREMIA; chronic ALCOHOLISM; LIVER FAILURE; severe BURNS; malignant NEOPLASMS; hemorrhagic PANCREATITIS; HEMODIALYSIS; and SEPSIS. The rapid medical correction of hyponatremia has been cited as a cause of this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1125-6)
Synonyms:exact_synonym: Central Pontine Myelinoclasis;   Extrapontine Myelinoclases;   Extrapontine Myelinoclasis;   Extrapontine Myelinolyses;   Extrapontine Myelinolysis;   osmotic demyelination syndrome
 primary_id: MESH:D017590;   RDO:0007060
 xref: 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 4:85,551,503...85,563,683
Ensembl chr 4:85,551,502...85,569,360
JBrowse link
G Aqp4 aquaporin 4 ISO protein:altered expression:basal part of pons: RGD PMID:24252214 RGD:8696006 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    Nutritional and Metabolic Diseases 4713
      disease of metabolism 4713
        Metabolic Brain Diseases 574
          central pontine myelinolysis 2
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        central nervous system disease 9008
          neurodegenerative disease 3188
            demyelinating disease 404
              central pontine myelinolysis 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.