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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: Tetralogy of Fallot (D013771)
..Starting node ..Tetralogy Of Fallot Syndrome, Autosomal Recessive (C565314)
Child Nodes:
Sister Nodes:
..Fallot complex with severe mental and growth retardation (C536608)
..Hypertelorism and tetralogy of Fallot (C538386)
..Tetralogy of fallot and glaucoma (C536501)
..Tetralogy Of Fallot Syndrome, Autosomal Recessive (C565314)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10946
Name:	Tetralogy Of Fallot Syndrome, Autosomal Recessive
Definition:
Alternative IDs:
ParentIDs:	MESH:D013771
TreeNumbers:	C14.240.400.849/C565314 \|C14.280.400.849/C565314 \|C16.131.240.400.849/C565314
Synonyms:
Slim Mappings:	Cardiovascular disease\|Congenital abnormality
Reference:	MedGen: C565314 MeSH: C565314 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants