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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Metabolic Diseases (D008659)
..Starting node ..Hypermanganesemia with Dystonia Polycythemia and Cirrhosis (C548016)
Child Nodes:
Sister Nodes:
..Acid-Base Imbalance (D000137) 42
..ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2 (OMIM:606770)
..ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3 (OMIM:606771)
..Brain Diseases, Metabolic (D001928) 244
..Calcium Metabolism Disorders (D002128) 94
..DNA Repair-Deficiency Disorders (D049914) 95
..Glucose Metabolism Disorders (D044882) 137
..Hyperlactatemia (D065906)
..Hypermanganesemia with Dystonia Polycythemia and Cirrhosis (C548016)
..Iron Metabolism Disorders (D019189) 23
..Lipid Metabolism Disorders (D052439) 189
..Malabsorption Syndromes (D008286) 29
..Metabolic Syndrome X (D024821) 1
..Metabolism, Inborn Errors (D008661) 886
..Mitochondrial Diseases (D028361) 114
..Phosphorus Metabolism Disorders (D010760) 25
..Porphyrias (D011164) 18
..Proteostasis Deficiencies (D057165) 55
..SHORT syndrome (C537327)
..Skin Diseases, Metabolic (D012875) 33
..Wasting Syndrome (D019282) 1
..Water-Electrolyte Imbalance (D014883) 31
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

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: Genes:
Phenotypes
Disease Causing ClinVar Variants