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:9381
Name:Proteostasis Deficiencies
Definition:Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins.
Alternative IDs:
ParentIDs:MESH:D008659
TreeNumbers:C18.452.845
Synonyms:Deficiencies, Proteostasis |Deficiency, Proteostasis |Disease, Protein Folding |Disease, Protein Misfolding |Diseases, Protein Folding |Diseases, Protein Misfolding |Disorder, Protein Folding |Disorder, Protein Misfolding |Disorders, Protein Folding |Disorders, P
Slim Mappings:Metabolic disease
Reference: MedGen: D057165
MeSH: D057165
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal