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cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Uniprot Description A metabolic autosomal recessive disorder characterized by dystonia, parkinsonism, extrapyramidal signs, severe hypermanganesemia, polycythemia, and chronic hepatic disease, including steatosis and cirrhosis.
Mondo Term and Equivalent IDs
MONDO:0013208:  cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
DOID:0080536: 
GARD:0010706: 
MESH:C548016: 
Orphanet:309854: 
SCTID:702377007: 
UMLS:CN035550: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found