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: muscular disease (MONDO:0005218)
..Starting node ..rhabdomyolysis (disease) ()
Child Nodes:
........myoglobinuria ()
Sister Nodes:
..anterior compartment syndrome ()
..biliary dyskinesia ()
..contracture ()
..frozen shoulder ()
..Kocher-debre-Semelaigne syndrome ()
..levator syndrome ()
..muscle tissue disease ()
..myalgic encephalomeyelitis/chronic fatigue syndrome ()
..rhabdomyolysis (disease) ()
..rotator cuff syndrome ()
..sarcopenia ()
..urethral intrinsic sphincter deficiency ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	5290
Name:	rhabdomyolysis (disease)
Definition:	A clinical syndrome resulting from direct or indirect muscle injury and subsequent release of myoglobin into the plasma.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	rhabdomyolysis
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal