Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Down Syndrome (D004314)
Parent Node: Leukemia, Megakaryoblastic, Acute (D007947)
..Starting node ..Leukemia, Megakaryoblastic, of Down Syndrome (C566025)
Child Nodes:
Sister Nodes:
..Leukemia, Megakaryoblastic, of Down Syndrome (C566025)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	6349
Name:	Leukemia, Megakaryoblastic, of Down Syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D004314\|MESH:D007947
TreeNumbers:	C04.557.337.539.275.450/C566025 \|C10.597.606.643.220/C566025 \|C16.131.077.327/C566025 \|C16.131.260.260/C566025 \|C16.320.180.260/C566025
Synonyms:
Slim Mappings:	Cancer\|Congenital abnormality\|Genetic disease (inborn)\|Nervous system disease
Reference:	MedGen: C566025 MeSH: C566025 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants