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 ..demyelinating disease of central nervous system ()
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:	20800
Name:	demyelinating disease of central nervous system
Definition:	Any condition in which there is degeneration of the myelin sheath that covers the nerves of the central nervous system.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Demyelinating CNS disease; demyelinating cns disease; Demyelinating disease central nervous system (CNS); demyelinating disease central nervous system (cns); Demyelinating Disease of Central Nervous System; Demyelinating disease of central nervous system; demyelinating disease of central nervous sys
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal