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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
2-aminoadipic 2-oxoadipic aciduria  
2-hydroxyglutaric aciduria +   
2-Methylacetoacetyl CoA Thiolase Deficiency 
2-Methylbutyryl-CoA Dehydrogenase Deficiency  
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency  
3-Hydroxyisobutyric Aciduria 
5-Oxoprolinase Deficiency  
Adams Nance Syndrome 
adenylosuccinase lyase deficiency  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Albinism +   
alcoholic cardiomyopathy  
alkaptonuria +   
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
Aminoacylase 1 Deficiency  
Arakawa Syndrome 2 
argininosuccinic aciduria  
aromatic L-amino acid decarboxylase deficiency  
ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES  
Asparagine Synthetase Deficiency  
Ataxia, Deafness, and Cardiomyopathy 
Atrial Dilation and Standstill +   
autosomal recessive limb-girdle muscular dystrophy type 2D  
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 
Beta-Aminoisobutyric Acid, Urinary Excretion of  
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency  
beta-ketothiolase deficiency  
Blue Diaper Syndrome 
branched-chain keto acid dehydrogenase kinase deficiency  
Brunner syndrome  
Camptodactyly Taurinuria 
carboxypeptidase N deficiency  
Cardiomyopathy Associated with Myopathy and Sudden Death 
Cardiomyopathy Hypogonadism Collagenoma Syndrome 
Cardioneuromyopathy with Hyaline Masses and Nemaline Rods 
cerebral creatine deficiency syndrome +   
Chagas Cardiomyopathy  
congenital myopathy 5  
cystathioninuria  
Cysteine Peptiduria 
cystinuria +   
Danon disease  
Diabetic Cardiomyopathies  
Diaminopentanuria 
Dibasic Amino Aciduria I 
dicarboxylic aminoaciduria  
dimethylglycine dehydrogenase deficiency  
diphthamide deficiency syndrome +   
endocardial fibroelastosis +   
endomyocardial fibrosis  
extrinsic cardiomyopathy +   
Familial Cardiac Lipidosis 
Fatal Fetal Cardiomyopathy due to Myocardial Calcification 
fumarase deficiency  
GABA aminotransferase deficiency  
gamma-amino butyric acid metabolism disorder +   
gamma-glutamyl transpeptidase deficiency  
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
Glucoglycinuria 
Glutamate Monosodium Sensitivity 
glutamate-cysteine ligase deficiency  
Glutamine Deficiency, Congenital  
Glutaric Aciduria +   
glutathione synthetase deficiency +   
glycine encephalopathy +   
Glycinuria with or without Oxalate Urolithiasis  
Hartnup disease  
histidine metabolism disease +   
HMG-CoA synthase 2 deficiency  
homocystinuria +   
homocystinuria-megaloblastic anemia cblG type  
hydroxykynureninuria  
Hydroxyprolinemia 
hyperhomocysteinemia +   
Hyperleucine-Isoleucinemia 
hyperlysinemia +   
hypermethioninemia +   
hyperprolinemia +   
Hypertaurinuric Cardiomyopathy  
Hypertryptophanemia +   
Ichthyosis, Split Hairs, and Amino Aciduria 
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
Indolylacroyl Glycinuria with Mental Retardation 
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
intrinsic cardiomyopathy +   
Isobutyryl-CoA Dehydrogenase Deficiency  
isolated sulfite oxidase deficiency  
isovaleric acidemia  
Kearns-Sayre syndrome  
Keshan disease  
Ketoadipicaciduria 
leucine-sensitive hypoglycemia of infancy  
linear skin defects with multiple congenital anomalies 3  
Lysine Malabsorption Syndrome 
lysinuric protein intolerance  
Maleylacetoacetate Isomerase Deficiency  
maple syrup urine disease +   
Mercaptolactate-Cysteine Disulfiduria 
Methionine Malabsorption Syndrome 
Methylmalonate Semialdehyde Dehydrogenase Deficiency  
methylmalonic acidemia +   
Methylmalonyl-CoA Epimerase Deficiency +   
Mitochondrial Cardiomyopathy  
mitochondrial DNA depletion syndrome 12a  
mitochondrial DNA depletion syndrome 12b  
mitochondrial DNA depletion syndrome 5  
multiple acyl-CoA dehydrogenase deficiency +   
multiple carboxylase deficiency +   
Muscular Dystrophy, Cardiac Type 
Myocardial Reperfusion Injury  
myocarditis +   
myofibrillar myopathy 2  
Myopathy due to Malate-Aspartate Shuttle Defect 
N-Acetylaspartate Deficiency  
NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES  
nonischemic cardiomyopathy 
nuclear type mitochondrial complex I deficiency 20  
organic acidemia +   
oxoglutarate dehydrogenase deficiency  
pentosuria  
phenylketonuria +   
prolidase deficiency  
propionic acidemia +   
Richards-Rundle Syndrome 
Roifman Syndrome  
sarcosinemia  
Sengers syndrome  
serine deficiency +   
succinic semialdehyde dehydrogenase deficiency  
systemic primary carnitine deficiency disease  
tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia +   
Tiglic Acidemia 
Tryptophanuria with Dwarfism 
tyrosinemia +   
Tyrosinosis 
urea cycle disorder +   
Uruguay faciocardiomusculoskeletal syndrome  
Valinemia +   
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2  

Synonyms
Primary IDs: MESH:C564157
Alternate IDs: OMIM:145350

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