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: anterior scleritis (MONDO:0001804)
Parent Node: deep keratitis (MONDO:0004903)
..Starting node ..sclerosing keratitis ()
Child Nodes:
Sister Nodes:
..corneal abscess ()
..interstitial keratitis ()
..sclerosing keratitis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1965
Name:	sclerosing keratitis
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	sclerokeratitis
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal