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Term:
Carnitine Acetyltransferase Deficiency (DOID:9008371)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Ataxia +     
Confusion +     
Muscle Hypotonia +     
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency  
3-Hydroxyacyl-CoA Dehydrogenase Deficiency  
3-M syndrome +   
3-methylglutaconic aciduria +   
5-Nucleotidase Syndrome 
6-Phosphogluconolactonase Deficiency 
Abetalipoproteinemia Neuropathy 
Acetylcarnitine Deficiency 
Acholinesterasemia 
Acid Phosphatase Deficiency  
Adie syndrome 
AL-RAQAD SYNDROME  
ALAZAMI-YUAN SYNDROME  
Allan-Herndon-Dudley syndrome  
Alpha-Fetoprotein Deficiency  
amino acid metabolic disorder +   
Amino Acid Transport Disorders, Inborn +   
Amobarbital, Deficient N-Hydroxylation of 
Angiotensin I-Converting Enzyme, Benign Serum Increase  
Arene Oxide Detoxification Defect 
aromatase excess syndrome  
Arts syndrome  
Aryl Hydrocarbon Hydroxylase Inducibility 
Ataxia and Polyneuropathy, Adult-Onset  
Ataxia with Fasciculations 
Ataxia with Myoclonic Epilepsy and Presenile Dementia 
ataxia with oculomotor apraxia type 3  
Ataxia, Deafness, and Cardiomyopathy 
ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS  
Ataxia-Microcephaly-Cataract Syndrome 
Ataxia-Oculomotor Apraxia 4  
ataxic cerebral palsy 
Atonic-Astatic Syndrome of Foerster 
autosomal dominant mental retardation 20  
Bangstad Syndrome 
Behr Syndrome  
Benign Childhood Paroxysmal Tonic Upgaze with Ataxia 
Bhaskar Jagannathan Syndrome 
bilirubin metabolic disorder +   
Birk-Barel syndrome  
Bisphosphoglycerate Mutase Deficiency  
Butyrylcholinesterase Deficiency  
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type  
CANOMAD Syndrome 
carbohydrate metabolic disorder +   
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO  
Carnitine Acetyltransferase Deficiency  
Cataract Ataxia Deafness 
Cataracts, Ataxia, Short Stature, and Mental Retardation 
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
CHITOTRIOSIDASE DEFICIENCY  
Christianson syndrome  
Chromate Resistance 
COACH Syndrome  
coenzyme Q10 deficiency disease +   
Cohen Syndrome  
Combined Exocrine Pancreatic Insufficiency 
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA  
combined oxidative phosphorylation deficiency 19  
combined oxidative phosphorylation deficiency 21  
combined oxidative phosphorylation deficiency 3  
combined oxidative phosphorylation deficiency 8  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 
CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES  
congenital leptin deficiency  
congenital secretory chloride diarrhea 1  
congenital secretory sodium diarrhea 3  
Copper Deficiency, Familial Benign 
Coumarin Resistance  
Coumarin Sensitivity  
cranial nerve III tumor +  
Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age 
cytochrome-c oxidase deficiency disease +   
De Hauwere syndrome 
Deafness Hyperuricemia Neurologic Ataxia 
Deoxyribose-5-Phosphate Aldolase Deficiency 
Der Kaloustian Mcintosh Silver Syndrome 
Desanto-Shinawi Syndrome  
Diaminopentanuria 
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2  
Dihydropyrimidinase Deficiency  
Diphenylhydantoin, Defect in Hydroxylation of 
dopamine beta-hydroxylase deficiency  
Efavirenz, Poor Metabolism of  
Emanuel Syndrome 
Enterokinase Deficiency  
Erythrokeratodermia with Ataxia  
Ethanolaminosis 
Familial Amyloidosis +   
familial isolated deficiency of vitamin E  
FG syndrome  
FUCOSYLTRANSFERASE 6 DEFICIENCY  
fumarase deficiency  
Gait Ataxia +   
German Syndrome 
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
Glucocorticoid Receptor Deficiency  
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 
Glutamate Formiminotransferase Deficiency  
glycerol kinase deficiency  
Glycoprotein Storage Disease 
Glyoxalase II Deficiency 
Growth Factors, Combined Defect of 
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
Grubben de Cock Borghgraef Syndrome 
hereditary ataxia +   
Hereditary Hyperbilirubinemia +   
Hyaluronan Metabolism, Defect in 
Hypercalcemia, Infantile, 1  
Hypercatabolic Hypoproteinemia  
Hypoadiponectinemia  
Hypokalemia, Familial 
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 
Hypotonia, Seizures, and Precocious Puberty 
hypotonia-cystinuria syndrome  
Infantile Hypotonia with Psychomotor Retardation +   
Inosine Triphosphatase Deficiency  
Intrinsic Factor and R Binder, Combined Congenital Deficiency of 
isolated elevated serum creatine phosphokinase levels  
isolated hyperchlorhidrosis  
Joubert syndrome 10  
Joubert syndrome 3  
Joubert syndrome 5  
Joubert syndrome 7  
Kallikrein, Decreased Urinary Activity of  
Ketoadipicaciduria 
L-Gulonolactone Oxidase, Nonfunctional 
Lactate Dehydrogenase B Deficiency  
Lactic Aciduria due to D-Lactic Acid  
Leptin Receptor Deficiency  
Leukoencephalopathy with Ataxia  
LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE  
Leukotriene C4 Synthase Deficiency  
lipid metabolism disorder +   
lysosomal storage disease +   
Malonic Aciduria  
Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type 
Mannose-Binding Protein Deficiency  
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 
Metabolic Brain Diseases, Inborn +   
metal metabolism disorder +   
Methemoglobin Reductase Deficiency 
methylmalonic aciduria and homocystinuria type cblG  
Methylmalonyl-Coenzyme A Mutase Deficiency 
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
mitochondrial complex II deficiency  
mitochondrial metabolism disease +   
Mitochondrial Myopathy, and Ataxia  
MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY  
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY  
multiple congenital anomalies-hypotonia-seizures syndrome +   
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 
Myeloperoxidase Deficiency  
Myokymia 1  
N Acetyltransferase Deficiency +   
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE  
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia   
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES  
Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency  
Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency  
Oculomotor Nerve Injuries  
oculomotor nerve paralysis 
optic atrophy 10  
OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA  
partial third-nerve palsy 
Partington syndrome  
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 
peroxisomal disease +   
PHARC syndrome  
Phenacetin O-Deethylase, Deficiency of  
Phenol Sulfotransferase Deficiency 
Phosphoglycerate Kinase 1 Deficiency  
Phosphohydroxylysinuria  
plasma protein metabolism disease +   
Poor Drug Metabolism, CYP2C19-Related  
Poor Drug Metabolism, CYP2D6-Related  
porphyria +   
Posterior Column Ataxia with Retinitis Pigmentosa  
progeria +   
Progressive Encephalopathy with Amyotrophy and Optic Atrophy  
progressive myoclonus epilepsy 1B  
Proguanil, Poor Metabolism of  
purine-pyrimidine metabolic disorder +   
pyrimidine metabolic disorder +   
Qazi Markouizos syndrome 
Reardon Wilson Cavanagh Syndrome 
renal tubular transport disease +   
Retinol-Binding Protein Deficiency 
Richards-Rundle Syndrome 
Scalp Ear Nipple Syndrome  
SEDOHEPTULOKINASE DEFICIENCY  
Sensory Ataxia, Autosomal Dominant  
sepiapterin reductase deficiency  
SNIJDERS BLOK-FISHER SYNDROME  
Spastic Ataxia with Congenital Miosis 
Spastic Paraplegia, Ataxia, and Mental Retardation 
SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE  
Spinocerebellar Ataxias +   
spondyloepimetaphyseal dysplasia, Genevieve-type  
Squalene Synthase Deficiency  
steroid inherited metabolic disorder +   
Stomatocytosis I  
Stomatocytosis II  
subacute delirium +   
Succinic Acidemia 
Tapetoretinal Degeneration with Ataxia 
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)  
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)  
thiopurine S-methyltransferase deficiency +   
Thyrotropin-Releasing Hormone Deficiency  
total third-nerve palsy 
Transcobalamin I Deficiency  
Treft Sanborn Carey Syndrome 
Tremor of Intention, Ataxia, and Lipofuscinosis 
trimethylaminuria  
Trypsinogen Deficiency  
Tryptophanuria with Dwarfism 
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 
Uridine-Cytidineuria  
vitamin metabolic disorder +   
Warfarin Sensitivity  
Weinstein Kliman Scully Syndrome 
Wiedemann Oldigs Oppermann Syndrome 

Synonyms
Primary IDs: MESH:C563249 ;   RDO:0012577

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.