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Ontology Browser
Term:
Late-Onset Carnitine Palmitoyltransferase II Deficiency (DOID:9007623)
Annotations: Rat: (1) Mouse: (1) Human: (2) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
adult-onset ataxia and polyneuropathy  
arthrogryposis multiplex congenita +   
Axial Myopathy, Late-Onset +   
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 
Bjornstad syndrome  
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 
carbamoyl phosphate synthetase I deficiency disease  
Carey-Fineman-Ziter syndrome +   
Carnitine Palmitoyltransferase II Deficiency, Infantile  
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal  
Chanarin-Dorfman syndrome +   
Childhood Myocerebrohepatopathy Spectrum  
chronic fatigue syndrome  
coenzyme Q10 deficiency disease +   
combined oxidative phosphorylation deficiency +   
compartment syndrome +   
Congenital Myopathy with Neuropathy and Deafness  
Congenital Universal Muscular Hypoplasia of Krabbe 
Contracture +   
Cowden-Like Syndrome 
Craniomandibular Disorders +   
cytochrome-c oxidase deficiency disease +   
deafness-dystonia-optic neuronopathy syndrome  
Deoxyguanosine Kinase Deficiency  
developmental and epileptic encephalopathy 39  
diaphragm disease +   
Dimauro Disease  
Ehlers-Danlos syndrome kyphoscoliotic type 2  
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +   
eosinophilia-myalgia syndrome  
Erythrocyte Amp Deaminase Deficiency  
Erythrocyte Lactate Transporter Defect  
ethylmalonic encephalopathy  
familial periodic paralysis +   
fibromyalgia +   
Fingerprint Body Myopathy 
Friedreich ataxia +   
Gamstorp-Wohlfart syndrome  
GRACILE syndrome  
Granulovacuolar Lobular Myopathy with Electrical Myotonia 
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis  
HMG-CoA synthase 2 deficiency  
Hypermetabolism due to Defect in Mitochondria  
HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2  
Hypertrophia Musculorum Vera 
hypomyelinating leukodystrophy 4  
hypotonia-cystinuria syndrome  
Internal Anal Sphincter Myopathy 
Kocher-Debre-Semelaigne Syndrome 
Late-Onset Carnitine Palmitoyltransferase II Deficiency  
Leber hereditary optic neuropathy +   
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation  
Marinesco-Sjogren syndrome  
Medial Tibial Stress Syndrome 
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 
Mitochondrial Cardiomyopathy  
mitochondrial complex I deficiency +   
mitochondrial complex II deficiency +   
mitochondrial complex III deficiency +   
mitochondrial complex V (ATP synthase) deficiency +   
Mitochondrial Cytopathy +   
mitochondrial DNA depletion syndrome +   
Mitochondrial DNA Depletion Syndrome, Myopathic Form +   
Mitochondrial Phosphate Carrier Deficiency  
mitochondrial pyruvate carrier deficiency  
multiple acyl-CoA dehydrogenase deficiency +   
multiple mitochondrial dysfunctions syndrome +   
Muscle Cramp +   
Muscle Rigidity +   
Muscle Spasticity +   
muscle tissue disease +   
Muscle Weakness +   
Musculoskeletal Pain +   
Myalgia +   
myofascial pain syndrome +   
Myopathic Carnitine Deficiency 
Myopathy with Giant Abnormal Mitochondria 
Myopathy with Lactic Acidosis, Hereditary  
Myopathy, Cataract, Hypogonadism Syndrome 
myotonic disease +   
Myotoxicity 
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities  
Noninsulin-Dependent Diabetes Mellitus with Deafness  
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 
optic atrophy 1  
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 
Parkinson's Disease, Mitochondrial  
Pearson syndrome  
Pectoralis Muscle, Absence of 
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss  
Progressive External Ophthalmoplegia with Hypogonadism 
Proximal Myopathy with Focal Depletion of Mitochondria 
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
Rhabdomyolysis +   
sarcosinemia  
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
Singleton Merten Syndrome +   
Skeletal Muscle Injuries  
Skeletal Muscle Reperfusion Injury  
Spinocerebellar Ataxia with Epilepsy  
Succinate-Coa Ligase Deficiency +   
systemic primary carnitine deficiency disease  
Tel Hashomer Camptodactyly Syndrome 
tendinitis +   
Treft Sanborn Carey Syndrome 
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 
Uruguay faciocardiomusculoskeletal syndrome  
Vacuolar Myopathy  
VDAC Deficiency 
very long chain acyl-CoA dehydrogenase deficiency  
Wolfram syndrome 2  

Synonyms
Exact Synonyms: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED ;   Carnitine Palmitoyltransferase II Deficiency, Adult-Onset ;   Carnitine Palmitoyltransferase II Deficiency, Myopathic ;   late-onset CPT2 deficiency ;   myopathic CPT II deficiency
Primary IDs: MESH:C563461
Alternate IDs: MIM:255110 ;   RDO:0012709

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