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)
..Starting node ..cone dystrophy ()
Child Nodes:
........cone dystrophy 3 ()
........cone dystrophy 4 ()
........cone dystrophy with supernormal rod response ()
........cone dystrophy, X-linked, with tapetal-like sheen ()
........retinal cone dystrophy 4 ()
........retinal cone dystrophy type 1 ()
Sister Nodes:
..AICA-ribosiduria ()
..benign concentric annular macular dystrophy ()
..colobomatous and areolar dystrophy ()
..cone dystrophy ()
..EEM syndrome ()
..familial flecked retinopathy ()
..macular corneal dystrophy ()
..macular dystrophy, fenestrated sheen type ()
..macular dystrophy, retinal, 3 ()
..macular dystrophy, X-linked ()
..occult macular dystrophy ()
..patterned dystrophy of the retinal pigment epithelium ()
..retinal macular dystrophy type 2 ()
..unclassified primitive or secondary maculopathy ()
..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:	455
Name:	cone dystrophy
Definition:	an inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	cone dystrophy; progressive cone dystrophy; retinal cone dystrophy; stationary cone dystrophy
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal