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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: Chromosome Aberrations (D002869)
..Starting node ..Chromosome Duplication (D058674)
Child Nodes:
........Chromosome 17p13.3 Duplication Syndrome (C567705)
........Chromosome 22q11.2 Microduplication Syndrome (C567224)
........Chromosome 3q29 Duplication Syndrome (C567626)
........Chromosome 5p13 Duplication Syndrome (C567717)
........Chromosome Xp11.23-P11.22 Duplication Syndrome (C567585)
........Chromosome Xq28 Duplication Syndrome (C567580)
........NF1 Microduplication Syndrome (C567173)
........Tetrasomy (D058670)
........Trisomy (D014314) 88
Sister Nodes:
..Abnormal Karyotype (D059786) 2
..Aneuploidy (D000782) 206
..Chromosomal Instability (D043171) 3
..Chromosome Breakage (D019457) 3
..Chromosome Duplication (D058674) 97
..Chromosome Inversion (D007446)
..Duplication 15q11-q13 Syndrome (C557830)
..Edinburgh Malformation Syndrome (C563051)
..IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
..Isochromosomes (D018404)
..Micronuclei, Chromosome-Defective (D048629)
..Nondisjunction, Genetic (D009630) 15
..Polyploidy (D011123) 3
..PREMATURE CHROMATID SEPARATION TRAIT (OMIM:176430)
..Ring Chromosomes (D012303) 18
..Sex Chromosome Aberrations (D012729) 14
..Translocation, Genetic (D014178) 4
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	2367
Name:	Chromosome Duplication
Definition:	An aberration in which an extra chromosome or a chromosomal segment is made.
Alternative IDs:
ParentIDs:	MESH:D002869
TreeNumbers:	C23.550.210.182
Synonyms:	Chromosomal Duplication \|Chromosomal Duplications \|Chromosome Duplications \|Duplication, Chromosomal \|Duplication, Chromosome \|Duplications, Chromosomal \|Duplications, Chromosome
Slim Mappings:	Pathology (process)
Reference:	MedGen: D058674 MeSH: D058674 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants