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: brain disease (MONDO:0005560)
Parent Node: vision disorder (MONDO:0021084)
..Starting node ..visual pathway disease ()
Child Nodes:
........coloboma of optic nerve (disease) ()
........optic pathway glioma ()
........optic tract meningioma ()
........pseudopapilledema (disease) ()
........retinal nerve fibre layer disorder ()
........visual cortex disease ()
Sister Nodes:
..Alice in wonderland syndrome ()
..amblyopia (disease) ()
..binocular vision disease ()
..blindness (disorder) ()
..cerebral visual impairment ()
..visual agnosia (disease) ()
..visual pathway disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1834
Name:	visual pathway disease
Definition:	A disorder of the neural pathway from the optic nerve to the visual cortex.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disease of optic tract; disease or disorder of optic tract; disorder of optic tract; disorder of optic tract; optic tract disease; optic tract disease or disorder; optic tract disorder; visual pathway disorder
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal