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 visual system (MONDO:0024458)
Parent Node: perceptual disorders (MONDO:0024417)
..Starting node ..vision disorder ()
Child Nodes:
........Alice in wonderland syndrome ()
........amblyopia (disease) ()
........binocular vision disease ()
........blindness (disorder) ()
........cerebral visual impairment ()
........visual agnosia (disease) ()
........visual pathway disease ()
Sister Nodes:
..agnosia ()
..allesthesia ()
..apraxia ()
..hearing disorder ()
..synesthesia ()
..vestibular disease ()
..vision disorder ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	21084
Name:	vision disorder
Definition:	Any impairment to the vision.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disorder of vision; disorder of visual system; vision disorder; visual disorder; visual Field disorder; visual system disorder
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal