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: genetic macular dystrophy (MONDO:0020242)
Parent Node: macular degeneration (MONDO:0003004)
..Starting node ..vitelliform macular dystrophy ()
Child Nodes:
........adult-onset foveomacular vitelliform dystrophy ()
........vitelliform macular dystrophy 2 ()
Sister Nodes:
..autosomal recessive bestrophinopathy ()
..degeneration of macula and posterior pole ()
..macular degeneration, early-onset ()
..macular retinal edema ()
..occult macular dystrophy ()
..patterned macular dystrophy ()
..vitelliform macular dystrophy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	390
Name:	vitelliform macular dystrophy
Definition:	A rare genetic disorder characterized by macular degeneration in the retina resulting in progressive loss of central vision with retention of the peripheral vision.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	macular dystrophy, vitelliform; vitelliform macular dystrophy
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal