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 ..hemophilic arthropathy ()
Child Nodes:
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:	43240
Name:	hemophilic arthropathy
Definition:	A form of arthritis that affects hemophiliacs, which is characterized by bleeding into the joint space.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	arthropathy in hemophilia; hemophilic arthritis; hemophilic arthropathy
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal