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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: Cri-du-Chat Syndrome (D003410)
..Starting node ..Monosomy 5p (C538482)
Child Nodes:
Sister Nodes:
..Chromosome 5, monosomy 5q35 (C537647)
..Chromosome 5, trisomy 5p (C537648)
..Chromosome 5, trisomy 5pter p13 3 (C537649)
..Chromosome 5, trisomy 5q (C537650)
..Chromosome 5, uniparental disomy (C537762)
..Monosomy 5p (C538482)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	7381
Name:	Monosomy 5p
Definition:
Alternative IDs:
ParentIDs:	MESH:D003410
TreeNumbers:	C10.597.606.643.180/C538482 \|C16.131.077.262/C538482 \|C16.131.260.190/C538482 \|C16.320.180.190/C538482
Synonyms:
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)\|Nervous system disease
Reference:	MedGen: C538482 MeSH: C538482 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants