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: human African trypanosomiasis (MONDO:0005459)
Parent Node: parasitic skin disease (MONDO:0024610)
Parent Node: skin infection (MONDO:0021201)
..Starting node ..infection by Trypanosoma gambiense ()
Child Nodes:
Sister Nodes:
..cercarial dermatitis ()
..cutaneous diphtheria ()
..deep seated dermatophytosis ()
..Demodex folliculitis ()
..dermatophytosis ()
..erysipelas ()
..gonococcal keratitis ()
..herpes simplex dermatitis ()
..herpes zoster dermatitis ()
..impetigo ()
..infection by Trypanosoma gambiense ()
..Pthirus pubis infestation ()
..scabies ()
..tinea favosa ()
..tinea infection ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	21932
Name:	infection by Trypanosoma gambiense
Definition:	Trypanosomiasis caused by infection by Trypanosoma brucei gambiense.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Chronic sleeping sickness; chronic sleeping sickness; Gambian sleeping sickness; gambian sleeping sickness; Gambian Trypanosomiasis; Gambian trypanosomiasis; gambian trypanosomiasis; gambian trypanosomiasis; Gambiense trypanosomiasis infection; gambiense trypanosomiasis infection; Infection by Trypa
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal