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: inherited neurodegenerative disorder (MONDO:0024237)
Parent Node: inherited vitreoretinopathy (MONDO:0020246)
Parent Node: vitreous syneresis (MONDO:0001377)
..Starting node ..vitreoretinal degeneration ()
Child Nodes:
........autosomal dominant neovascular inflammatory vitreoretinopathy ()
........autosomal dominant vitreoretinochoroidopathy ()
........enhanced S-cone syndrome ()
........exudative vitreoretinopathy ()
........Knobloch syndrome ()
........snowflake vitreoretinal degeneration ()
........Stickler syndrome ()
........Wagner disease ()
........X-linked retinoschisis ()
Sister Nodes:
..vitreoretinal degeneration ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	20248
Name:	vitreoretinal degeneration
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	degenerative vitreoretinopathy
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal