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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: Brain Neoplasms (D001932)
Parent Node: Hemangioma (D006391)
Parent Node: Liver Neoplasms (D008113)
..Starting node ..Pascual Castroviejo syndrome (C536302)
Child Nodes:
Sister Nodes:
..Adenoma, Liver Cell (D018248)
..Carcinoma, Hepatocellular (D006528) 2
..Hepatic Adenomas, Familial (C564190)
..Liver Neoplasms, Experimental (D008114)
..Malignant mesenchymal tumor (C535700)
..Pascual Castroviejo syndrome (C536302)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	8704
Name:	Pascual Castroviejo syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D001932\|MESH:D006391\|MESH:D008113
TreeNumbers:	C04.557.645.375/C536302 \|C04.588.274.623/C536302 \|C04.588.614.250.195/C536302 \|C06.301.623/C536302 \|C06.552.697/C536302 \|C10.228.140.211/C536302 \|C10.551.240.250/C536302
Synonyms:	Hemangiomas, and cutaneous and intracranial vascular deformations
Slim Mappings:	Cancer\|Digestive system disease\|Nervous system disease
Reference:	MedGen: C536302 MeSH: C536302 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants