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 (D001927)
Parent Node: Coma (D003128)
Parent Node: Death (D003643)
..Starting node ..Brain Death (D001926)
Child Nodes:
Sister Nodes:
..Asphyxia (D001237)
..Brain Death (D001926)
..Cadaver (D002102) 4
..Death, Sudden (D003645) 7
..Drowning (D004332) 1
..Embryo Loss (D020964)
..Fetal Death (D005313) 4
..Infant Death (D066088) 2
..Parental Death (D063129) 1
..Perinatal Death (D066087)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1445
Name:	Brain Death
Definition:	A state of prolonged irreversible cessation of all brain activity, including lower brain stem function with the complete absence of voluntary movements, responses to stimuli, brain stem reflexes, and spontaneous respirations. Reversible conditions which mimic this clinical state (e.g., sedative overdose, hypothermia, etc.) are excluded prior to making the determination of brain death. (From Adams et al., Principles of Neurology, 6th ed, pp348-9)
Alternative IDs:
ParentIDs:	MESH:D001927\|MESH:D003128\|MESH:D003643
TreeNumbers:	C10.228.140.151 \|C10.597.606.358.800.200.100 \|C23.550.260.159
Synonyms:	Brain Dead \|Brain Deads \|Coma Depasse \|Coma, Irreversible \|Death, Brain \|Irreversible Coma
Slim Mappings:	Nervous system disease\|Pathology (process)
Reference:	MedGen: D001926 MeSH: D001926 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants