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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: Abnormalities, Multiple (D000015)
Parent Node: Heart Defects, Congenital (D006330)
Parent Node: Meningomyelocele (D008591)
..Starting node ..Sacral meningocele conotruncal heart defects (C537223)
Child Nodes:
Sister Nodes:
..Lipomyelomeningocele (C537030)
..Sacral meningocele conotruncal heart defects (C537223)
..Schwartz Cohen-Addad Lambert syndrome (C535835)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9936
Name:	Sacral meningocele conotruncal heart defects
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D006330\|MESH:D008591
TreeNumbers:	C10.500.680.610/C537223 \|C14.240.400/C537223 \|C14.280.400/C537223 \|C16.131.077/C537223 \|C16.131.240.400/C537223 \|C16.131.666.680.610/C537223
Synonyms:	Kousseff syndrome
Slim Mappings:	Cardiovascular disease\|Congenital abnormality\|Nervous system disease
Reference:	MedGen: C537223 MeSH: C537223 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants