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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 ..Acid-Base Imbalance (D000137)
Child Nodes:
........Achlorhydria (D000126)
........Acidosis (D000138) 36
........Alkalosis (D000471) 1
........Stomatocytosis I (C566111)
........Stomatocytosis II (C566110)
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:	151
Name:	Acid-Base Imbalance
Definition:	Disturbances in the ACID-BASE EQUILIBRIUM of the body.
Alternative IDs:
ParentIDs:	MESH:D008659
TreeNumbers:	C18.452.076
Synonyms:	Acid Base Imbalance \|Acid-Base Imbalances \|Imbalance, Acid-Base \|Imbalances, Acid-Base
Slim Mappings:	Metabolic disease
Reference:	MedGen: D000137 MeSH: D000137 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants