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: musculoskeletal system disease (MONDO:0002081)
..Starting node ..synovium disease ()
Child Nodes:
........synovial bursa disease ()
........synovial plica syndrome ()
........synovitis (disease) ()
........synovium neoplasm ()
Sister Nodes:
..autoimmune disease of musculoskeletal system ()
..enthesopathy ()
..fasciitis (disease) ()
..ligament disease ()
..muscular disease ()
..musculoskeletal disease with cataract ()
..musculoskeletal system benign neoplasm ()
..musculoskeletal system cancer ()
..myocardial disorder ()
..skeletal system disease ()
..synovium disease ()
..tendinopathy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	56799
Name:	synovium disease
Definition:	A disease or disorder that involves the layer of synovial tissue.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disease of layer of synovial tissue; disease or disorder of layer of synovial tissue; disorder of layer of synovial tissue; disorder of synovium; layer of synovial tissue disease; layer of synovial tissue disease or disorder
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal