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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)
Parent Node: Trisomy (D014314)
Parent Node: Uniparental Disomy (D024182)
..Starting node ..Chromosome 5, uniparental disomy (C537762)
Child Nodes:
Sister Nodes:
..Chromosome 1, uniparental disomy 1q12 q21 (C538085)
..Chromosome 10, uniparental disomy of (C538292)
..Chromosome 15, trisomy mosaicism (C538037)
..Chromosome 16, uniparental disomy (C538043)
..Chromosome 21, uniparental disomy of (C536794)
..Chromosome 5, uniparental disomy (C537762)
..Chromosome 7, trisomy mosaic (C537822)
..Chromosome 8, mosaic trisomy (C537940)
..Chromosome 9, trisomy mosaic (C535454)
..Trisomy 22 mosaicism syndrome (C536796)
..Uniparental disomy of 11 (C536468)
..Uniparental disomy of 13 (C536469)
..Uniparental disomy of chromosome 2 (C536470)
..Uniparental disomy, paternal, chromosome 14 (C536471)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	2319
Name:	Chromosome 5, uniparental disomy
Definition:
Alternative IDs:
ParentIDs:	MESH:D003410\|MESH:D014314\|MESH:D024182
TreeNumbers:	C10.597.606.643.180/C537762 \|C16.131.077.262/C537762 \|C16.131.260.190/C537762 \|C16.320.180.190/C537762 \|C23.550.210.050.750/C537762 \|C23.550.210.182.500/C537762 \|C23.550.210.645.890/C537762
Synonyms:	Mosaic trisomy of chromosome 5 \|Uniparental disomy of 5
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)\|Nervous system disease\|Pathology (process)
Reference:	MedGen: C537762 MeSH: C537762 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants