MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

Hello! Guest! Please Login or Register! Clinician Mode

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: primary angle-closure glaucoma (MONDO:0001868)
..Starting node ..chronic closed-angle glaucoma ()
Child Nodes:
Sister Nodes:
..acute closed-angle glaucoma ()
..chronic closed-angle glaucoma ()
..interval angle-closure glaucoma ()
..residual stage angle-closure glaucoma ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1966
Name:	chronic closed-angle glaucoma
Definition:	Chronic form of angle-closure glaucoma.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	anatomical narrow angle glaucoma; angle-closure glaucoma, chronic; chronic angle-closure glaucoma; chronic narrow angle glaucoma
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: ERCC1;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal