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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: Aneuploidy (D000782)
Parent Node: Sex Chromosome Aberrations (D012729)
Parent Node: Sex Chromosome Disorders (D025064)
..Starting node ..49,XXXXX syndrome (C535319)
Child Nodes:
Sister Nodes:
..47, XYY syndrome (C535317)
..49,XXXXX syndrome (C535319)
..Chromosome Xq duplication syndrome (C536732)
..Chromosome Xq28 Duplication Syndrome (C567580)
..Fragile X Syndrome (D005600) 3
..Orofaciodigital Syndromes (D009958) 14
..Sex Chromosome Disorders of Sex Development (D058533) 8
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	44
Name:	49,XXXXX syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000782\|MESH:D012729\|MESH:D025064
TreeNumbers:	C16.131.260.830/C535319 \|C16.320.180.830/C535319 \|C23.550.210.050/C535319 \|C23.550.210.815/C535319
Synonyms:	Chromosome X pentasomy \|Chromosome XXXXX syndrome \|Pentasomy X \|Pentasomy X syndrome \|Penta-X syndrome
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)\|Pathology (process)
Reference:	MedGen: C535319 MeSH: C535319 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants