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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

Disease Browser
Parent Node: Angiomyolipoma (D018207)
Parent Node: Kidney Diseases, Cystic (D052177)
Parent Node: Tuberous Sclerosis (D014402)
..Starting node ..Tsc2 Angiomyolipomas, Renal, Modifier Of (C567682)
Child Nodes:
Sister Nodes:
..Polycystic kidneys, severe infantile with tuberous sclerosis (C536328)
..Tsc2 Angiomyolipomas, Renal, Modifier Of (C567682)
..Tuberous Sclerosis 1 (C565346)
..Tuberous Sclerosis 2 (C566021)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	11300
Name:	Tsc2 Angiomyolipomas, Renal, Modifier Of
Definition:
Alternative IDs:
ParentIDs:	MESH:D014402\|MESH:D018207\|MESH:D052177
TreeNumbers:	C04.445.810/C567682 \|C04.557.450.550.125/C567682 \|C04.557.450.692.249/C567682 \|C04.651.800/C567682 \|C04.700.632/C567682 \|C10.500.507.400.750/C567682 \|C10.562.850/C567682 \|C10.574.500.865/C567682 \|C12.777.419.403/C567682 \|C13.351.968.419.403/C567682 \|C16.131.666.50
Synonyms:
Slim Mappings:	Cancer\|Congenital abnormality\|Genetic disease (inborn)\|Nervous system disease\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: C567682 MeSH: C567682 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants