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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 Inversion (D007446)
Child Nodes:
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:	2369
Name:	Chromosome Inversion
Definition:	An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome.
Alternative IDs:
ParentIDs:	MESH:D002869
TreeNumbers:	C23.550.210.190
Synonyms:	Chromosomal Inversion \|Chromosomal Inversions \|Chromosome Inversions \|Inversion, Chromosomal \|Inversion, Chromosome \|Inversions, Chromosomal \|Inversions, Chromosome
Slim Mappings:	Pathology (process)
Reference:	MedGen: D007446 MeSH: D007446 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants