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: synovium disease (MONDO:0056799)
..Starting node ..synovial bursa disease ()
Child Nodes:
........bursitis ()
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:	56802
Name:	synovial bursa disease
Definition:	A disease or disorder that involves the synovial bursa.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disease of synovial bursa; disease or disorder of synovial bursa; disorder of bursa; disorder of synovial bursa; synovial bursa disease or disorder
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal