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:5421
Name:Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
Definition:
Alternative IDs:
ParentIDs:MESH:D008659
TreeNumbers:C18.452/C548016
Synonyms:Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease |Hepatic Cirrhosis, Dystonia, Polycythaemia, and Hypermanganesaemia |Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia |Hmdpc |Hypermanganesemia With Dystonia, P
Slim Mappings:Metabolic disease
Reference: MedGen: C548016
MeSH: C548016
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal