| Disease Browser
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Parent Node:
 Ataxia (D001259) |
Parent Node:
Deafness (D003638) |
Parent Node:
Metabolism, Inborn Errors (D008661) |
..Starting node
.. Deafness hyperuricemia neurologic ataxia (C535995)
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Child Nodes:
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Sister Nodes: |
..3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)
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..3-Hydroxyacyl-CoA Dehydrogenase Deficiency (C535310)
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..3-Methylglutaconic Aciduria (C579867)
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..3-Methylglutaconic Aciduria Type IV (C565393)
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..3-Methylglutaconic Aciduria, Type I (C562801)
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..3-Methylglutaconic Aciduria, Type V (C565706)
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..5-Nucleotidase syndrome (C535321)
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..6-Phosphogluconolactonase Deficiency (C566803)
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..Acetylcarnitine deficiency (C536006)
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..Acholinesterasemia (C566750)
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..Acid Phosphatase Deficiency (C562645)
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..Adenine phosphoribosyltransferase deficiency (C538228)
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..AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY (OMIM:608688)
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..alpha-Fetoprotein Deficiency (C566300)
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..Amino Acid Metabolism, Inborn Errors (D000592)  169
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..Amino Acid Transport Disorders, Inborn (D020157) 3
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..Amobarbital, Deficient N-Hydroxylation of (C565959)
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..Amyloidosis, Familial (D028226) 13
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..Arene Oxide Detoxification Defect (C565043)
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..Aromatase deficiency (C537436)
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..Aryl Hydrocarbon Hydroxylase Inducibility (C566250)
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..BISPHOSPHOGLYCERATE MUTASE DEFICIENCY (OMIM:222800)
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..Brain Diseases, Metabolic, Inborn (D020739) 218
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..Butyrylcholinesterase deficiency (C537417)
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..Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type (C566751)
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..Carbohydrate Metabolism, Inborn Errors (D002239) 169
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..Carnitine Acetyltransferase Deficiency (C563249)
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..Carnitine palmitoyl transferase 2 deficiency (C535589)
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..Chromate Resistance (C566125)
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..COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
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..Combined Malonic and Methylmalonic Aciduria (C580002)
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..Combined Oxidative Phosphorylation Deficiency 1 (C563797)
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..Combined Oxidative Phosphorylation Deficiency 4 (C565690)
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..Combined Oxidative Phosphorylation Deficiency 5 (C567126)
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..Congenital chloride diarrhea (C536210)
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..Copper deficiency, familial benign (C535468)
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..Costeff optic atrophy syndrome (C535311)
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..Coumarin Resistance (C563039)
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..Coumarin Sensitivity (C567276)
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..CREATINE PHOSPHOKINASE, ELEVATED SERUM (OMIM:123320)
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..Cytochrome-c Oxidase Deficiency (D030401) 2
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..Deafness hyperuricemia neurologic ataxia (C535995)
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..Deoxyribose-5-Phosphate Aldolase Deficiency (C565112)
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..Diarrhea 3, Secretory Sodium, Congenital (C562576)
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..Diarrhea 3, Secretory Sodium, Congenital, Syndromic (C567490)
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..Diarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency (C565099)
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..Dihydropyrimidinase Deficiency (C562815)
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..Diphenylhydantoin, Defect in Hydroxylation of (C565044)
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..Drug Metabolism, Poor, CYP2C19-Related (C563703)
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..Drug Metabolism, Poor, CYP2D6-Related (C563835)
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..Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657)
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..Enterokinase Deficiency (C562649)
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..Ethanolaminosis (C562651)
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..Familial gynecomastia, due to increased aromatase activity (C000591739)
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..Finnish lethal neonatal metabolic syndrome (C537934)
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..Fumaric aciduria (C538191)
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..Glucocorticoid Receptor Deficiency (C564221)
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..Glutamate formiminotransferase deficiency (C537425)
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..Glycoprotein Storage Disease (C565538)
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..Glyoxalase II Deficiency (C564215)
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..Growth Factors, Combined Defect of (C565529)
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..HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (OMIM:613470)
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..HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY (OMIM:235700)
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..Hyaluronan Metabolism, Defect in (C565742)
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..Hyperbilirubinemia, Hereditary (D006933) 7
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..Hypercalcemia, Idiopathic, of Infancy (C562581)
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..HYPERCHLORHIDROSIS, ISOLATED (OMIM:143860)
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..Hypoadiponectinemia (C567258)
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..Hypokalemia, Familial (C562654)
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..Hypoproteinemia, Hypercatabolic (C565476)
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..Inosine Triphosphatase Deficiency (C564127)
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..Intrinsic Factor and R Binder, Combined Congenital Deficiency of (C565461)
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..Kallikrein, Decreased Urinary Activity of (C563653)
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..L-Gulonolactone Oxidase, Nonfunctional (C565486)
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..Lactate Dehydrogenase B Deficiency (C563641)
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..Lactic Aciduria due to D-Lactic Acid (C565446)
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..Leukotriene C4 Synthase Deficiency (C565439)
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..Lipid Metabolism, Inborn Errors (D008052) 135
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..LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:609016)
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..Lysosomal Storage Diseases (D016464) 106
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..Malonic aciduria (C535702)
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..Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type (C563601)
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..Mannose-Binding Protein Deficiency (C563602)
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..Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
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..Metal Metabolism, Inborn Errors (D008664) 55
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..Methemoglobin Reductase Deficiency (C563171)
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..Methylcobalamin Deficiency, CblG Type (C565394)
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..Methylmalonyl-Coenzyme A mutase deficiency (C537573)
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..Mitochondrial Complex II Deficiency (C565375)
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..Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive (C567624)
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..Myeloperoxidase Deficiency (C562864)
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..N acetyltransferase deficiency (C536107)
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..Pancreatic Insufficiency, Combined Exocrine (C564907)
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..Peroxisomal Disorders (D018901) 39
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..Phenacetin O-Deethylase, Deficiency of (C565127)
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..Phenol sulfotransferase deficiency (C537895)
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..Phosphoglycerate Kinase 1 Deficiency (C567067)
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..Porphyrias (D011164) 18
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..Progeria (D011371) 11
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..Proguanil, Poor Metabolism of (C563704)
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..Purine-Pyrimidine Metabolism, Inborn Errors (D011686) 24
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..Renal Tubular Transport, Inborn Errors (D015499) 76
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..Retinol-Binding Protein Deficiency (C566711)
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..Steroid Metabolism, Inborn Errors (D043202) 34
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..Stomatocytosis I (C566111)
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..Stomatocytosis II (C566110)
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..Succinic Acidemia (C563952)
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..THYROTROPIN-RELEASING HORMONE DEFICIENCY (OMIM:275120)
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..Transcobalamin I Deficiency (C562798)
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..Trimethylaminuria (C536561)
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..Warfarin Sensitivity (C567080)
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..Weinstein Kliman Scully syndrome (C536688)
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..Wiedemann Oldigs Oppermann syndrome (C536705)
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..Xanthinuria, Type I (C562584)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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