Disease browser and phenotype portal

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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 Disorders (D025063)
Parent Node: Ring Chromosomes (D012303)
..Starting node ..Chromosome 6 ring syndrome (C537763)
Child Nodes:
Sister Nodes:
..Chromosome 1 ring (C535361)
..Chromosome 10 ring (C538086)
..Chromosome 12 ring (C538298)
..Chromosome 13 ring (C538303)
..Chromosome 15 ring (C538035)
..Chromosome 17 ring (C538046)
..Chromosome 18 ring (C538304)
..Chromosome 19 ring (C538310)
..Chromosome 20 ring (C535369)
..Chromosome 21 ring (C537109)
..Chromosome 22 ring (C536795)
..Chromosome 6 ring syndrome (C537763)
..Chromosome 7 ring syndrome (C537813)
..Chromosome 8 ring (C537824)
..Chromosome 9 Ring (C538022)
..Ring Chromosome 14 Syndrome (C535487)
..Ring Chromosome 20 Syndrome (C580424)
..Ring chromosome 4 syndrome (C537636)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	2326
Name:	Chromosome 6 ring syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D012303\|MESH:D025063
TreeNumbers:	C16.131.260/C537763 \|C16.320.180/C537763 \|C23.550.210.760/C537763
Synonyms:	Ring 6, Chromosome \|Ring chromosome 6 syndrome
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)\|Pathology (process)
Reference:	MedGen: C537763 MeSH: C537763 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants