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Ontology Browser

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-Hydroxyacyl-CoA Dehydrogenase Deficiency  
3-M syndrome +   
3-methylglutaconic aciduria +   
5-Nucleotidase Syndrome 
6-Phosphogluconolactonase Deficiency 
Abetalipoproteinemia Neuropathy  
aceruloplasminemia  
Acetylcarnitine Deficiency 
Acholinesterasemia  
Acid Phosphatase Deficiency  
Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate  
Adie syndrome 
adult-onset ataxia and polyneuropathy  
Al-Raqad Syndrome  
Alazami-Yuan Syndrome  
Allan-Herndon-Dudley syndrome  
Alpha-Fetoprotein Deficiency  
amino acid metabolic disorder +   
Amino Acid Transport Disorders, Inborn +   
Angiotensin I-Converting Enzyme, Benign Serum Increase  
Arene Oxide Detoxification Defect 
aromatase excess syndrome  
Arts syndrome  
Aryl Hydrocarbon Hydroxylase Inducibility 
Ataxia with Fasciculations 
Ataxia with Myoclonic Epilepsy and Presenile Dementia 
Ataxia, Deafness, and Cardiomyopathy 
ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET  
ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS  
Ataxia-Microcephaly-Cataract Syndrome 
ataxic cerebral palsy 
Atonic-Astatic Syndrome of Foerster 
autosomal recessive intellectual developmental disorder 73  
Bangstad Syndrome 
Behr syndrome  
Benign Childhood Paroxysmal Tonic Upgaze with Ataxia 
Bhaskar Jagannathan Syndrome 
bilirubin metabolic disorder +   
Birk-Barel syndrome  
BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME  
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 
cerebral amyloid angiopathy +   
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline  
CHITOTRIOSIDASE DEFICIENCY  
Christianson syndrome  
Chromate Resistance 
COACH syndrome +   
coenzyme Q10 deficiency disease +   
Cohen syndrome  
Combined Congenital Deficiency of Intrinsic Factor and R Binder 
Combined Defect of Growth Factors 
Combined Exocrine Pancreatic Insufficiency 
Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia  
combined oxidative phosphorylation deficiency 3  
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies  
congenital leptin deficiency  
congenital limbs-face contractures-hypotonia-developmental delay syndrome  
congenital secretory chloride diarrhea 1  
congenital secretory sodium diarrhea 3  
Copper Deficiency, Familial Benign 
Coumarin Sensitivity  
cranial nerve III tumor +  
cytochrome-c oxidase deficiency disease +   
De Hauwere syndrome 
Deafness Hyperuricemia Neurologic Ataxia 
Decreased Urinary Activity of Kallikrein  
Defect in Hyaluronan Metabolism 
Defect in Hydroxylation of Diphenylhydantoin 
Deficient N-Hydroxylation of Amobarbital 
Deoxyribose-5-Phosphate Aldolase Deficiency 
Der Kaloustian Mcintosh Silver Syndrome 
DeSanto-Shinawi syndrome  
DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES  
Diaminopentanuria 
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2  
dopamine beta-hydroxylase deficiency  
DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE  
Efavirenz, Poor Metabolism of  
Emanuel Syndrome 
enterokinase deficiency  
Ethanolaminosis 
Familial Amyloidosis +   
familial erythrocytosis 8  
familial hypocalciuric hypercalcemia +   
Familial Hypokalemia +   
familial isolated deficiency of vitamin E  
FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME  
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 
glycogen storage disease IX +   
Glycoprotein Storage Disease  
Glycosylphosphatidylinositol Biosynthesis Defect 25  
Glyoxalase II Deficiency  
Gordon Holmes syndrome  
Greenberg dysplasia  
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
Grubben de Cock Borghgraef Syndrome 
hereditary ataxia +   
Hereditary Hyperbilirubinemia +   
Hypercalcemia, Infantile, 1  
hyperphosphatemic familial tumoral calcinosis +   
Hypoadiponectinemia  
hypoinsulinemic hypoglycemia with hemihypertrophy  
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  
immunodeficiency 43  
immunoglobulin light chain amyloidosis  
Infantile Hypotonia with Psychomotor Retardation +   
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 
Inosine Triphosphatase Deficiency  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES  
INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME  
isolated elevated serum creatine phosphokinase levels  
isolated hyperchlorhidrosis  
Joubert syndrome 10  
Joubert syndrome 3  
Joubert syndrome 5  
Joubert syndrome 7  
Ketoadipicaciduria 
Kilquist Syndrome  
Lactate Dehydrogenase B Deficiency  
Lactic Aciduria due to D-Lactic Acid  
Leptin Receptor Deficiency  
Leukoencephalopathy with Ataxia  
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 
Methylmalonyl-Coenzyme A Mutase Deficiency 
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
mitochondrial metabolism disease +   
Mitochondrial Myopathy, and Ataxia  
MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY  
Monocarboxylate Transporter 1 Deficiency  
Monocyte Esterase Deficiency  
multiple congenital anomalies-hypotonia-seizures syndrome +   
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 
Myeloperoxidase Deficiency  
Myokymia 1  
N Acetyltransferase Deficiency +   
neonatal diabetes mellitus with congenital hypothyroidism  
Neurodegeneration with Ataxia and Late-Onset Optic Atrophy  
NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA  
NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES  
Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES  
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures   
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE  
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language  
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia   
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES  
Nonfunctional L-Gulonolactone Oxidase 
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  
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME  
osteosclerotic metaphyseal dysplasia  
overhydrated hereditary stomatocytosis  
partial third-nerve palsy 
Partington syndrome  
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 
permanent neonatal diabetes mellitus +   
peroxisomal disease +   
PHARC syndrome  
Phenacetin O-Deethylase, Deficiency of  
Phenol Sulfotransferase Deficiency 
phosphoglycerate kinase 1 deficiency  
Phosphohydroxylysinuria  
plasma protein metabolism disease +   
PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL  
Poor Drug Metabolism, CYP2C19-Related  
Poor Drug Metabolism, CYP2D6-Related  
Poor Metabolism of Proguanil  
porphyria +   
Posterior Column Ataxia with Retinitis Pigmentosa  
progeria +   
Progressive Encephalopathy with Amyotrophy and Optic Atrophy  
progressive myoclonus epilepsy 1B  
purine-pyrimidine metabolic disorder +   
pyrimidine metabolic disorder +   
Qazi Markouizos syndrome 
RADIO-TARTAGLIA 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  
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES  
Snijders Blok-Fisher Syndrome  
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 II  
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures  
subacute delirium +   
Succinic Acidemia 
SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY  
Tapetoretinal Degeneration with Ataxia 
Tessadori-van Haaften Neurodevelopmental Syndrome 1  
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 
type 1 diabetes mellitus 2  
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 
Uridine-Cytidineuria  
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT  
variant ABeta2M amyloidosis 
vitamin metabolic disorder +   
warfarin resistance  
warfarin sensitivity +   
Weinstein Kliman Scully Syndrome 
WHITE-KERNOHAN SYNDROME  
Wiedemann Oldigs Oppermann Syndrome 

Synonyms
Primary IDs: MESH:C563249
Alternate IDs: OMIM:606175

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