MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Disease Browser
Parent Node:
expandchromosomal anomaly (MONDO:0019040)
Parent Node:
expandepilepsy (MONDO:0005027)
..Starting node
..expandchromosomal anomaly with epilepsy as a major feature ()

       Child Nodes:
........expand15q11q13 microduplication syndrome ()
........expand2q23.1 microdeletion syndrome ()
........expand5q14.3 microdeletion syndrome ()
........expand9q33.3q34.11 microdeletion syndrome ()
........expandAngelman syndrome ()
........expandchromosome 15q13.3 microdeletion syndrome ()
........expandchromosome 17q11.2 deletion syndrome, 1.4Mb ()
........expandchromosome 18q deletion syndrome ()
........expandchromosome 1p36 deletion syndrome ()
........expandchromosome Xp11.23-p11.22 duplication syndrome ()
........expanddown syndrome ()
........expandduplication/inversion 15q11 ()
........expandfragile X syndrome ()
........expandKleefstra syndrome due to 9q34 microdeletion ()
........expandKlinefelter syndrome ()
........expandMiller-Dieker lissencephaly syndrome ()
........expandMowat-Wilson syndrome due to monosomy 2q22 ()
........expandring chromosome 14 ()
........expandring chromosome 20 ()
........expandTELO2-related intellectual disability-neurodevelopmental disorder ()
........expandtetrasomy 12p ()
........expandtrisomy 12p ()
........expandWolf-Hirschhorn syndrome ()



 Sister Nodes: 
..expandarthrogryposis epileptic seizures migrational brain disorder ()
..expandcerebral diseases of vascular origin with epilepsy ()
..expandcerebral malformation with epilepsy ()
..expandchromosomal anomaly with epilepsy as a major feature ()
..expandCoffin-Lowry syndrome ()
..expandelectroclinical syndrome ()
..expandepilepsia partialis continua ()
..expandepilepsy syndrome ()
..expandextratemporal epilepsy ()
..expandgeneralised epilepsy ()
..expandidiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes ()
..expandimmune epilepsy ()
..expandinfectious disease with epilepsy ()
..expandinflammatory and autoimmune disease with epilepsy ()
..expandmetabolic disease with epilepsy ()
..expandmetabolic epilepsy ()
..expandmonogenic disease with epilepsy ()
..expandpartial epilepsy ()
..expandpost-traumatic epilepsy ()
..expandstatus epilepticus ()
..expandstructural epilepsy ()
..expandvariable age onset epilepsy ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:15652
Name:chromosomal anomaly with epilepsy as a major feature
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal