MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation 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

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Myoclonic Epilepsies, Progressive (D020191)
..Starting node ..Epilepsy, Progressive Myoclonic 2B (C564976)
Child Nodes:
Sister Nodes:
..Amyotrophic Lateral Sclerosis With Polyglucosan Bodies (C565955)
..Epilepsy, Progressive Myoclonic 2B (C564976)
..Epilepsy, Progressive Myoclonic 3 (C567095)
..EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS (OMIM:611726)
..Lafora Disease (D020192)
..MERRF Syndrome (D017243) L: 00162;
..Myoclonic epilepsy with choreoathetosis (C538427)
..Prickle1-Related Progressive Myoclonic Epilepsy with Ataxia (C580388)
..SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY (OMIM:159950)
..Unverricht-Lundborg Syndrome (D020194)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	4281
Name:	Epilepsy, Progressive Myoclonic 2B
Definition:
Alternative IDs:
ParentIDs:	MESH:D020191
TreeNumbers:	C10.228.140.490.375.130.650/C564976 \|C10.228.140.490.493.063.650/C564976
Synonyms:
Slim Mappings:	Nervous system disease
Reference:	MedGen: C564976 MeSH: C564976 OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal