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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: Monosomy (D009006)
..Starting node ..Chromosome 21 monosomy (C537108)
Child Nodes:
Sister Nodes:
..Chromosome 18 mosaic monosomy (C536581)
..Chromosome 21 monosomy (C537108)
..Chromosome 8 deletion (C537823) 1
..Chromosome Deletion (D002872) 104
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	2265
Name:	Chromosome 21 monosomy
Definition:
Alternative IDs:
ParentIDs:	MESH:D009006
TreeNumbers:	C23.550.210.050.500/C537108
Synonyms:	Monosomy 21
Slim Mappings:	Pathology (process)
Reference:	MedGen: C537108 MeSH: C537108 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants