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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: Aneuploidy (D000782)
..Starting node ..Monosomy (D009006)
Child Nodes:
........Chromosome 18 mosaic monosomy (C536581)
........Chromosome 21 monosomy (C537108)
........Chromosome 8 deletion (C537823) 1
........Chromosome Deletion (D002872) 104
Sister Nodes:
..49,XXXXX syndrome (C535319)
..Chromosome 15q, tetrasomy (C538039)
..Chromosome 18, tetrasomy 18p (C538306)
..Chromosome 21, tetrasomy 21q (C536793)
..Chromosome 9, duplication 9q21 (C538023)
..Chromosome 9, tetrasomy 9p (C538027)
..Monosomy (D009006) 108
..Schmid-Fraccaro syndrome (C535918)
..Tetrasomy (D058670)
..Trisomy (D014314) 88
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	7380
Name:	Monosomy
Definition:	The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.
Alternative IDs:
ParentIDs:	MESH:D000782
TreeNumbers:	C23.550.210.050.500
Synonyms:	Monosomies
Slim Mappings:	Pathology (process)
Reference:	MedGen: D009006 MeSH: D009006 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants