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: Cestode infectious disease (MONDO:0042488)
..Starting node ..echinococcosis ()
Child Nodes:
........alveolar echinococcosis ()
........echinococcus granulosus infectious disease ()
........polycystic echinococcosis ()
Sister Nodes:
..diphyllobothriasis ()
..echinococcosis ()
..mesocestoidiasis ()
..sparganosis ()
..taeniasis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	5738
Name:	echinococcosis
Definition:	A parasitic infection caused by tapeworm larvae of Echinococcus. It affects livestock and humans. It is characterized by the formation of hydatid cysts mainly in the liver, lungs, spleen, and kidneys. Rupture of the cysts may lead to shock.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	echinococcal disease; echinococciasis; echinococcosis; echinococcosis of liver; echinococcosis, unspecified, of liver; Echinococcus caused disease or disorder; echinococcus disease; Echinococcus disease or disorder; Echinococcus infectious disease; hepatic echinococcosis; hydatid disease; hydatid di
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal