Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Nutritional and Metabolic Diseases (D009750)
..Starting node ..Metabolic Diseases (D008659)
Child 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
Sister Nodes:
..Metabolic Diseases (D008659) 1434
..Nutrition Disorders (D009748) 119
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	7108
Name:	Metabolic Diseases
Definition:	Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)
Alternative IDs:
ParentIDs:	MESH:D009750
TreeNumbers:	C18.452
Synonyms:	Disease, Metabolic \|Diseases, Metabolic \|Metabolic Disease \|Thesaurismoses \|Thesaurismosis
Slim Mappings:	Metabolic disease
Reference:	MedGen: D008659 MeSH: D008659 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants