Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Trisomy (D014314)
Parent Node: Uniparental Disomy (D024182)
..Starting node ..Trisomy 22 mosaicism syndrome (C536796)
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:	11285
Name:	Trisomy 22 mosaicism syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D014314\|MESH:D024182\|MESH:D025063
TreeNumbers:	C16.131.260/C536796 \|C16.320.180/C536796 \|C23.550.210.050.750/C536796 \|C23.550.210.182.500/C536796 \|C23.550.210.645.890/C536796
Synonyms:	Chromosome 22 trisomy mosaic \|Trisomy 22 mosaic \|Trisomy mosaic 22 \|Uniparental disomy of 22
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)\|Pathology (process)
Reference:	MedGen: C536796 MeSH: C536796 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants