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 ..diphyllobothriasis ()
Child Nodes:
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:	15260
Name:	diphyllobothriasis
Definition:	Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anaemia caused by vitamin B12 deficiency that resembles Biermer anaemia (anaemia characterised by abnormally large red blood cells).
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Bothriocephalosis; Diphyllobothrium caused disease or disorder; Diphyllobothrium disease or disorder; Diphyllobothrium infection; Diphyllobothrium infectious disease; fish tapeworm
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal