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: disease of central nervous system or retinal vasculature (MONDO:0020676)
Parent Node: neurovascular disease (MONDO:0043218)
Parent Node: vision disorder (MONDO:0021084)
..Starting node ..cerebral visual impairment ()
Child Nodes:
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:	18649
Name:	cerebral visual impairment
Definition:	A vision disorder that results from damage of the part of the cerebral cortex that is involved in the processing of visual information.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	cortical visual impairment; visual cortex disorder
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal