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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: Epilepsy (D004827)
Parent Node: Myokymia (D020385)
..Starting node ..Epilepsy, Benign Neonatal, 1, And/Or Myokymia (C567743)
Child Nodes:
Sister Nodes:
..Continuous Muscle Fiber Activity, Hereditary (C563545)
..Dyskinesia, Familial, with Facial Myokymia (C564676)
..Epilepsy, Benign Neonatal, 1, And/Or Myokymia (C567743)
..Episodic Ataxia, Type 1 (C563278)
..Myokymia with neonatal epilepsy (C536099)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	3856
Name:	Epilepsy, Benign Neonatal, 1, And/Or Myokymia
Definition:
Alternative IDs:
ParentIDs:	MESH:D004827\|MESH:D020385
TreeNumbers:	C10.228.140.490/C567743 \|C10.597.613.650/C567743 \|C23.888.592.608.650/C567743
Synonyms:
Slim Mappings:	Nervous system disease\|Signs and symptoms
Reference:	MedGen: C567743 MeSH: C567743 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants