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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 ..Chromosome 5, trisomy 5p (C537648)
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:	2316
Name:	Chromosome 5, trisomy 5p
Definition:
Alternative IDs:
ParentIDs:	MESH:D003410
TreeNumbers:	C10.597.606.643.180/C537648 \|C16.131.077.262/C537648 \|C16.131.260.190/C537648 \|C16.320.180.190/C537648
Synonyms:	Chromosome 5p syndrome \|Chromosome 5, Trisomy 5p, Complete (5p11-pter) \|Chromosome 5, Trisomy 5p, Partial (5p13 or 14-pter)
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)\|Nervous system disease
Reference:	MedGen: C537648 MeSH: C537648 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants