MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: demyelinating disease (MONDO:0002562)
..Starting node ..central pontine myelinolysis ()
Child Nodes:
Sister Nodes:
..Balo concentric sclerosis ()
..boylan dew greco syndrome ()
..central pontine myelinolysis ()
..demyelinating disease of central nervous system ()
..demyelinating polyneuropathy ()
..multiple sclerosis ()
..polyradiculoneuropathy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	6692
Name:	central pontine myelinolysis
Definition:	A central nervous system disorder caused by demyelination within the central basis pontis of the brain. It is characterized by spastic quadriplegia, pseudobulbar palsy and encephalopathy. It is observed in patients with severe hyponatremia, particularly when the hyponatremia is corrected too rapidly.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	osmotic demyelination syndrome
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: PROM1;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal