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: sensory system disease (MONDO:0005128)
..Starting node ..disease of visual system ()
Child Nodes:
........Brown's tendon sheath syndrome ()
........eye disease ()
........myopathy of extraocular muscle ()
........optic nerve disease ()
........vision disorder ()
Sister Nodes:
..auditory system disease ()
..disease of ear ()
..disease of visual system ()
..Holmes-Adie syndrome ()
..nose disease ()
..progressive external ophthalmoplegia ()
..sensory organ benign neoplasm ()
..sensory system cancer ()
..tongue disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	24458
Name:	disease of visual system
Definition:	A disease that involves the visual system.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disease of visual system; disease or disorder of visual system; disorder of visual system; disorder of visual system; visual system disease; visual system disease or disorder; visual system disorder
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal