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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: Craniofacial Abnormalities (D019465)
Parent Node: Intellectual Disability (D008607)
Parent Node: Sex Chromosome Aberrations (D012729)
..Starting node ..Tetrasomy X (C536502)
Child Nodes:
Sister Nodes:
..49,XXXXX syndrome (C535319)
..Chromosome Xq duplication syndrome (C536732)
..Male sterility due to Y-chromosome deletions (C536297)
..Tetrasomy X (C536502)
..Triple X syndrome (C535318)
..X chromosome, duplication Xq13 1 q21 1 (C536753)
..X chromosome, monosomy Xp22 pter (C536754)
..X chromosome, monosomy Xq28 (C536755)
..X chromosome, trisomy Xp3 (C536756)
..X chromosome, trisomy Xpter Xq13 (C536731)
..X chromosome, trisomy Xq25 (C536733)
..XYY Karyotype (D014997) 1
..Young Hughes syndrome (C536715)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10951
Name:	Tetrasomy X
Definition:
Alternative IDs:
ParentIDs:	MESH:D008607\|MESH:D012729\|MESH:D019465
TreeNumbers:	C05.660.207/C536502 \|C10.597.606.643/C536502 \|C16.131.621.207/C536502 \|C23.550.210.815/C536502 \|C23.888.592.604.646/C536502 \|F03.550.600/C536502
Synonyms:	48 XXXX \|48 XXXX syndrome
Slim Mappings:	Congenital abnormality\|Mental disorder\|Musculoskeletal disease\|Nervous system disease\|Pathology (process)\|Signs and symptoms
Reference:	MedGen: C536502 MeSH: C536502 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants