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: arthropathy (MONDO:0006816)
Parent Node: limb disorder (MONDO:0044967)
Parent Node: synovium disease (MONDO:0056799)
..Starting node ..synovial plica syndrome ()
Child Nodes:
Sister Nodes:
..synovial bursa disease ()
..synovial plica syndrome ()
..synovitis (disease) ()
..synovium neoplasm ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1468
Name:	synovial plica syndrome
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	plica syndrome; synovial plica of knee
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: EYA1; SIX5; TFAP2A;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal