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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: Genetic Diseases, X-Linked (D040181)
Parent Node: Heart Septal Defects, Atrial (D006344)
Parent Node: Limb Deformities, Congenital (D017880)
Parent Node: Transposition of Great Vessels (D014188)
..Starting node ..Radial Ray Deficiency, X-Linked (C564523)
Child Nodes:
Sister Nodes:
..Congenitally corrected transposition of the great arteries (C535426)
..Double Outlet Right Ventricle (D004310) 1
..Radial Ray Deficiency, X-Linked (C564523)
..Transposition of the Great Arteries, Dextro-Looped 1 (C563853)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9565
Name:	Radial Ray Deficiency, X-Linked
Definition:
Alternative IDs:	OMIM:300378
ParentIDs:	MESH:D006344\|MESH:D014188\|MESH:D017880\|MESH:D040181
TreeNumbers:	C05.660.585/C564523 \|C14.240.400.560.375/C564523 \|C14.240.400.915/C564523 \|C14.280.400.560.375/C564523 \|C14.280.400.915/C564523 \|C16.131.240.400.560.375/C564523 \|C16.131.240.400.915/C564523 \|C16.131.621.585/C564523 \|C16.320.322/C564523
Synonyms:	RRDX
Slim Mappings:	Cardiovascular disease\|Congenital abnormality\|Genetic disease (inborn)\|Musculoskeletal disease
Reference:	MedGen: C564523 MeSH: C564523 OMIM: 300378; Genes:
Phenotypes
Disease Causing ClinVar Variants