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: cartilage disease (MONDO:0005569)
..Starting node ..articular cartilage disease ()
Child Nodes:
........chondromalacia ()
Sister Nodes:
..articular cartilage disease ()
..cartilage cancer ()
..cartilage development disorder ()
..chondroma ()
..discitis ()
..fibrocartilaginous embolism ()
..ochronosis disorder ()
..Tietze syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	3816
Name:	articular cartilage disease
Definition:	A disease involving the articular cartilage of joint.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	articular cartilage disease; articular cartilage disorder; articular cartilage disorder involving ankle and foot; articular cartilage disorder involving forearm; articular cartilage disorder involving hand; articular cartilage disorder involving multiple sites; articular cartilage disorder involving
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal