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 vitreoretinopathy (MONDO:0020246)
..Starting node ..congenital vitreoretinal dysplasia ()
Child Nodes:
........Coats disease ()
........Coats plus syndrome ()
........incontinentia pigmenti ()
........Norrie disease ()
........osteoporosis-pseudoglioma syndrome ()
........persistent hyperplastic primary vitreous ()
........retinal capillary malformation ()
........spondylo-ocular syndrome ()
........trisomy 13 ()
........Walker-Warburg syndrome ()
Sister Nodes:
..congenital vitreoretinal dysplasia ()
..proliferative vitreoretinopathy ()
..vitreoretinal degeneration ()
..vitreous detachment ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	20247
Name:	congenital vitreoretinal dysplasia
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	vitreoretinal dysplasia
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal