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: autosomal trisomy (MONDO:0020050)
..Starting node ..total autosomal trisomy ()
Child Nodes:
........down syndrome ()
........mosaic trisomy 1 ()
........mosaic trisomy 10 ()
........mosaic trisomy 12 ()
........mosaic trisomy 14 ()
........mosaic trisomy 15 ()
........mosaic trisomy 16 ()
........mosaic trisomy 17 ()
........mosaic trisomy 2 ()
........mosaic trisomy 20 ()
........mosaic trisomy 22 ()
........mosaic trisomy 3 ()
........mosaic trisomy 4 ()
........mosaic trisomy 5 ()
........mosaic trisomy 7 ()
........mosaic trisomy 8 ()
........mosaic trisomy 9 ()
........trisomy 13 ()
........trisomy 18 ()
Sister Nodes:
..chromosome 8, trisomy ()
..mosaic trisomy 6 ()
..partial autosomal trisomy/tetrasomy ()
..total autosomal trisomy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	20051
Name:	total autosomal trisomy
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal