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: primary bacterial infectious disease (MONDO:0000314)
Parent Node: spirochaetales infections (MONDO:0021839)
..Starting node ..leptospirosis ()
Child Nodes:
........Weil's disease ()
Sister Nodes:
..Borrelia infectious disease ()
..leptospirosis ()
..Lyme disease ()
..Treponema infectious disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	5825
Name:	leptospirosis
Definition:	A contagious bacterial infection caused by spirochetes of the genus Leptospira. Humans are infected by contact with water and soil which have been contaminated with animal waste products. The signs and symptoms include an initial flu-like phase, followed by a second phase in which patients may develop meningitis, liver failure and renal failure.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	cane cutter's fever; cane-cutter fever; canicola fever; fort Bragg fever; harvest fever; hemorrhagic jaundice; Icterohemorrhagic fever; infection due to Leptospira; japanese autumnal fever; Leptospira caused disease or disorder; Leptospira disease or disorder; Leptospira infectious disease; leptospi
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal