MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:6713
Name:Koone Rizzo Elias syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D007057|MESH:D008607|MESH:D009128
TreeNumbers:C05.651.512/C537023 |C10.597.606.360/C537023 |C10.597.613.550.550/C537023 |C16.131.831.512/C537023 |C16.614.492/C537023 |C17.800.428.333/C537023 |C17.800.804.512/C537023 |C23.888.592.604.646/C537023 |C23.888.592.608.550.550/C537023 |F03.625.539/C537023
Synonyms:Ichthyosis, mental retardation and asymptomatic spasticity
Slim Mappings:Congenital abnormality|Infant-newborn disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Skin disease
Reference: MedGen: C537023
MeSH: C537023
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal