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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 Duplication (D058674)
Parent Node: Craniofacial Abnormalities (D019465)
Parent Node: Facies (D019066)
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Intellectual Disability (D008607)
Parent Node: Sex Chromosome Disorders (D025064)
..Starting node ..Chromosome Xq28 Duplication Syndrome (C567580)
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:	2373
Name:	Chromosome Xq28 Duplication Syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D008607\|MESH:D019066\|MESH:D019465\|MESH:D025064\|MESH:D040181\|MESH:D058674
TreeNumbers:	C05.660.207/C567580 \|C10.597.606.643/C567580 \|C16.131.260.830/C567580 \|C16.131.621.207/C567580 \|C16.320.180.830/C567580 \|C16.320.322/C567580 \|C23.550.210.182/C567580 \|C23.550.291.812/C567580 \|C23.888.592.604.646/C567580 \|F03.550.600/C567580
Synonyms:	Gdi1 Duplication Syndrome
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)\|Mental disorder\|Musculoskeletal disease\|Nervous system disease\|Pathology (process)\|Signs and symptoms
Reference:	MedGen: C567580 MeSH: C567580 OMIM: 300815; Genes: AF8T;
Phenotypes
Disease Causing ClinVar Variants