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: arthritis (MONDO:0005578)
..Starting node ..osteoarthritis ()
Child Nodes:
........OS4 ()
........OS6 ()
........osteoarthritis susceptibility 5 ()
........osteoarthritis, hand ()
........osteoarthritis, hip ()
........osteoarthritis, knee ()
........osteoarthritis, spine ()
........osteoarthritis, toe ()
Sister Nodes:
..acute articular rheumatism ()
..adult-onset Still disease ()
..chondrocalcinosis ()
..discitis ()
..hemophilic arthropathy ()
..infective arthritis ()
..juvenile idiopathic arthritis ()
..negative rheumatoid factor polyarthritis ()
..osteoarthritis ()
..periarthritis ()
..polyarticular arthritis ()
..reactive arthritis ()
..rheumatoid arthritis ()
..synovitis (disease) ()
..transient arthritis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	5178
Name:	osteoarthritis
Definition:	A noninflammatory degenerative joint disease occurring chiefly in older persons, characterised by degeneration of the articular cartilage, hypertrophy of bone at the margins and changes in the synovial membrane. It is accompanied by pain and stiffness, particularly after prolonged activity.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	degenerative arthritis; degenerative joint disease; hypertrophic arthritis; osteoarthrosis; osteoarthrosis and allied disorder
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: LIPC;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal