MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

Hello! Guest! Please Login or Register! Clinician Mode

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: encephalomyelitis (MONDO:0005156)
Parent Node: eye disease (MONDO:0005328)
Parent Node: optic nerve disease (MONDO:0002135)
..Starting node ..optic neuritis ()
Child Nodes:
........autoimmune optic neuritis ()
........optic papillitis ()
........retrobulbar neuritis ()
........toxic optic neuropathy ()
........toxic or nutritional optic neuropathy ()
Sister Nodes:
..anterior ischemic optic neuropathy ()
..extensive peripapillary myelinated nerve fibers ()
..low tension glaucoma ()
..optic atrophy ()
..optic disk drusen ()
..optic nerve neoplasm ()
..optic neuritis ()
..papilledema ()
..pseudopapilledema (disease) ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	5885
Name:	optic neuritis
Definition:	Optic neuritis is inflammation of the optic nerve, the nerve that carries the visual signal from the eye to the brain.The conditionmay cause sudden, reduced vision in the affected eye(s). While the cause of optic neuritis is unknown, it has been associated with autoimmune diseases, infections, multiple sclerosis , drug toxicity and deficiency of vitamin B-12. Vision often returns to normal within 2-3 weeks without treatment. In some cases, corticosteroids are given to speed recovery. If known, the underlying cause should be treated.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal