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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: Anus, Imperforate (D001006)
Parent Node: Heart Defects, Congenital (D006330)
Parent Node: Hydrocephalus (D006849)
Parent Node: Megalencephaly (D058627)
Parent Node: Tracheoesophageal Fistula (D014138)
..Starting node ..Vater Association With Hydrocephalus (C564752)
Child Nodes:
Sister Nodes:
..Esophageal atresia with or without tracheoesophageal fistula (C531835)
..Martinez-Frias Syndrome (C563346)
..Oculodigitoesophagoduodenal syndrome (C537734)
..Vater Association With Hydrocephalus (C564752)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	11547
Name:	Vater Association With Hydrocephalus
Definition:
Alternative IDs:
ParentIDs:	MESH:D001006\|MESH:D006330\|MESH:D006849\|MESH:D014138\|MESH:D058627
TreeNumbers:	C05.660.207.536/C564752 \|C06.198.050/C564752 \|C06.267.250.725/C564752 \|C06.405.117.367.725/C564752 \|C08.702.750/C564752 \|C08.907.863/C564752 \|C10.228.140.602/C564752 \|C10.228.140.631.450/C564752 \|C10.500.507.400.249/C564752 \|C14.240.400/C564752 \|C14.280.400/C56475
Synonyms:	Vater Association With Macrocephaly And Ventriculomegaly
Slim Mappings:	Cardiovascular disease\|Congenital abnormality\|Digestive system disease\|Musculoskeletal disease\|Nervous system disease\|Pathology (anatomical condition)\|Respiratory tract disease
Reference:	MedGen: C564752 MeSH: C564752 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants