| Disease Browser
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Parent Node:
 Amino Acid Metabolism, Inborn Errors (D000592) |
..Starting node
.. Valinemia (C536524)
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Child Nodes:
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Sister Nodes: |
..2-Methylacetoacetyl CoA thiolase deficiency (C535307)
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..2-Methylbutyryl-CoA Dehydrogenase Deficiency (C566487)
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..3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (C538324)
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..3-Hydroxyisobutyric aciduria (C535312)
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..5-oxoprolinase deficiency (C535322)
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..Acidemia, isovaleric (C538167)
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..Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)
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..Adams Nance syndrome (C538224)
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..Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968)
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..Albinism (D000417)  30
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..Alkaptonuria (D000474)
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..Alpha-ketoglutarate dehydrogenase deficiency (C536582)
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..Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960)
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..Aminoacylase 1 deficiency (C538246)
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..Arakawa syndrome 2 (C537426)
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..Arginine:Glycine Amidinotransferase Deficiency (C567192)
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..Aromatic amino acid decarboxylase deficiency (C537437)
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..Beta ketothiolase deficiency (C535434)
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..Beta-Aminoisobutyric Acid, Urinary Excretion of (C565904)
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..Beta-Hydroxyisobutyryl CoA Deacylase Deficiency (C562803)
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..Blue diaper syndrome (C536239)
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..Camptodactyly taurinuria (C537972)
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..Carboxypeptidase N Deficiency (C562876)
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..Cystathionase Deficiency (C562680)
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..Cysteine Peptiduria (C565659)
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..Diaminopentanuria (C565630)
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..Dibasic Amino Aciduria I (C567132)
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..Dimethylglycine Dehydrogenase Deficiency (C565278)
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..Gamma aminobutyric acid transaminase deficiency (C535407)
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..Glucoglycinuria (C562670)
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..Glutamate Monosodium Sensitivity (C562377)
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..Glutamine deficiency, congenital (C536832)
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..Glutaric aciduria 1 (C536833)
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..Glutaric Aciduria III (C562818)
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..Glutathione synthetase deficiency (C536835)
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..Glutathionuria (C536836)
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..Glycine N-Methyltransferase Deficiency (C564683)
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..Glycinuria with or without Oxalate Urolithiasis (C563009)
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..Histidinemia (C538320)
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..Homocarnosinosis (C535328)
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..Hydroxykynureninuria (C536081)
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..Hydroxyprolinemia (C562669)
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..Hyperglycinemia, Nonketotic (D020158) 1
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..HYPERGLYCINURIA (OMIM:138500)
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..Hyperhomocysteinemia (D020138) 8
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..Hyperleucine-Isoleucinemia (C562674)
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..Hyperlysinemias (D020167) 3
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..Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase (C566700)
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..Hyperprolinemia (C538384)
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..Hyperprolinemia type 2 (C538385)
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..Hypertaurinuric Cardiomyopathy (C564157)
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..Hypertryptophanemia (C538393)
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..Hypertryptophanemia, Familial (C563467)
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..Ichthyosis, Split Hairs, and Amino Aciduria (C565471)
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..Indolylacroyl Glycinuria with Mental Retardation (C565466)
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..Isobutyryl-CoA dehydrogenase deficiency (C535541)
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..Ketoadipicaciduria (C565453)
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..Lysine Malabsorption Syndrome (C563080)
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..Lysinuric Protein Intolerance (C562687)
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..Maple Syrup Urine Disease (D008375) 5
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..Mercaptolactate-Cysteine Disulfiduria (C563085)
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..Methionine Adenosyltransferase Deficiency (C562681)
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..Methionine Malabsorption Syndrome (C562682)
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..Methylmalonate Semialdehyde Dehydrogenase Deficiency (C566402)
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..Methylmalonic acidemia (C537358) 1
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..Methylmalonic acidemia with homocystinuria (C537359)
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..Methylmalonic Aciduria and Homocystinuria, CblD Type (C564743)
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..Methylmalonic Aciduria and Homocystinuria, CblF Type (C564747)
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..Methylmalonic aciduria cblA type (C537360)
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..Methylmalonic aciduria cblB type (C537361)
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..Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency (C565390)
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..Methylmalonyl-CoA Epimerase Deficiency (C565386)
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..Methylmalonyl-CoA Epimerase Deficiency with Sepiapterin Reductase Deficiency (C565387)
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..MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
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..Multiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) 1
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..Multiple Carboxylase Deficiency (D009100) 4
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..Myopathy due to Malate-Aspartate Shuttle Defect (C564973)
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..Phenylketonurias (D010661) 8
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..Prolidase Deficiency (D056732)
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..Propionic Acidemia (D056693) 1
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..Richards-Rundle syndrome (C535674)
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..Sarcosinemia (C537236)
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..succinic semialdehyde dehydrogenase deficiency (C535803)
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..Sulfite oxidase deficiency (C538141)
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..Tiglic acidemia (C536921)
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..Tryptophanuria With Dwarfism (C562658)
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..Tyrosinemias (D020176) 1
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..Tyrosinosis (C562659)
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..Urea Cycle Disorders, Inborn (D056806) 16
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..Urocanase deficiency (C536479)
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..Valinemia (C536524)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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