Disease browser and phenotype portal

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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 Diseases, Metabolic (D001928)
Parent Node: Fatty Liver (D005234)
..Starting node ..Reye Syndrome (D012202)
Child Nodes:
Sister Nodes:
..Acute fatty liver of pregnancy (C537957)
..Fatty Liver, Alcoholic (D005235)
..Lipoatrophy with diabetes, hepatic steatosis, cardiomyopathy, and leukomelanodermic papules (C535905)
..Non-alcoholic Fatty Liver Disease (D065626)
..Reye Syndrome (D012202)
..Visceral Steatosis, Congenital (C536351)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9810
Name:	Reye Syndrome
Definition:	A form of encephalopathy with fatty infiltration of the LIVER, characterized by brain EDEMA and VOMITING that may rapidly progress to SEIZURES; COMA; and DEATH. It is caused by a generalized loss of mitochondrial function leading to disturbances in fatty acid and CARNITINE metabolism.
Alternative IDs:
ParentIDs:	MESH:D001928\|MESH:D005234
TreeNumbers:	C06.552.241.649 \|C10.228.140.163.780 \|C18.452.132.780
Synonyms:	Adult Reye's Syndrome \|Adult Reye Syndrome \|Fatty Liver with Encephalopathy \|Reye Johnson Syndrome \|Reye-Johnson Syndrome \|Reye Like Syndrome \|Reye-Like Syndrome \|Reye's Like Syndrome \|Reye's-Like Syndrome \|Reye's Syndrome \|Reye's Syndrome, Adult \|Reye Syndrome, Ad
Slim Mappings:	Digestive system disease\|Metabolic disease\|Nervous system disease
Reference:	MedGen: D012202 MeSH: D012202 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants