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Term:
Combined Oxidative Phosphorylation Deficiency 3 (DOID:9005247)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
3-M syndrome +   
AL-RAQAD SYNDROME  
ALAZAMI-YUAN SYNDROME  
Allan-Herndon-Dudley syndrome  
Atonic-Astatic Syndrome of Foerster 
autosomal dominant mental retardation 20  
Birk-Barel syndrome  
Carnitine Acetyltransferase Deficiency  
chronic progressive external ophthalmoplegia +   
Cohen Syndrome  
Combined Oxidative Phosphorylation Deficiency 1  
Combined Oxidative Phosphorylation Deficiency 10  
Combined Oxidative Phosphorylation Deficiency 11  
Combined Oxidative Phosphorylation Deficiency 12  
Combined Oxidative Phosphorylation Deficiency 13  
Combined Oxidative Phosphorylation Deficiency 14  
Combined Oxidative Phosphorylation Deficiency 15  
Combined Oxidative Phosphorylation Deficiency 16  
Combined Oxidative Phosphorylation Deficiency 17  
Combined Oxidative Phosphorylation Deficiency 18  
Combined Oxidative Phosphorylation Deficiency 19  
Combined Oxidative Phosphorylation Deficiency 2  
Combined Oxidative Phosphorylation Deficiency 20  
Combined Oxidative Phosphorylation Deficiency 21  
Combined Oxidative Phosphorylation Deficiency 22  
Combined Oxidative Phosphorylation Deficiency 23  
Combined Oxidative Phosphorylation Deficiency 24  
Combined Oxidative Phosphorylation Deficiency 25  
Combined Oxidative Phosphorylation Deficiency 26  
Combined Oxidative Phosphorylation Deficiency 27  
Combined Oxidative Phosphorylation Deficiency 28  
Combined Oxidative Phosphorylation Deficiency 29   
Combined Oxidative Phosphorylation Deficiency 3  
Combined Oxidative Phosphorylation Deficiency 30  
Combined Oxidative Phosphorylation Deficiency 31  
Combined Oxidative Phosphorylation Deficiency 32  
Combined Oxidative Phosphorylation Deficiency 33  
Combined Oxidative Phosphorylation Deficiency 34  
Combined Oxidative Phosphorylation Deficiency 35  
Combined Oxidative Phosphorylation Deficiency 36  
Combined Oxidative Phosphorylation Deficiency 37  
Combined Oxidative Phosphorylation Deficiency 38  
Combined Oxidative Phosphorylation Deficiency 39  
Combined Oxidative Phosphorylation Deficiency 4  
Combined Oxidative Phosphorylation Deficiency 5  
Combined Oxidative Phosphorylation Deficiency 6  
Combined Oxidative Phosphorylation Deficiency 7  
Combined Oxidative Phosphorylation Deficiency 8  
Combined Oxidative Phosphorylation Deficiency 9  
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 Infantile Lactic Acidosis +   
Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age 
De Hauwere syndrome 
Der Kaloustian Mcintosh Silver Syndrome 
Desanto-Shinawi Syndrome  
Emanuel Syndrome 
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy  
Ethanolaminosis 
FG syndrome  
Finnish Lethal Neonatal Metabolic Syndrome  
fumarase deficiency  
German Syndrome 
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
Grubben de Cock Borghgraef Syndrome 
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA  
Hyperglycinemia, Lactic Acidosis, and Seizures  
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 +   
Joubert syndrome 10  
Joubert syndrome 3  
Joubert syndrome 5  
Ketoadipicaciduria 
Lactic Acidosis, Chronic Adult Form 
Maple Syrup Urine Disease, E3 Deficient, with Lactic Acidosis 
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
mitochondrial DNA depletion syndrome 11  
mitochondrial DNA depletion syndrome 12a  
mitochondrial DNA depletion syndrome 12b  
mitochondrial DNA depletion syndrome 14  
mitochondrial DNA depletion syndrome 15  
mitochondrial DNA depletion syndrome 9  
Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive +   
mitochondrial encephalomyopathy +   
Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport 
Mitochondrial Myopathy with Diabetes 
Mitochondrial Myopathy with Lactic Acidosis  
Mitochondrial Myopathy, and Ataxia  
Mitochondrial Myopathy, Infantile, Transient  
Mitochondrial Myopathy, Lethal Infantile  
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
mitochondrial pyruvate carrier deficiency  
multiple congenital anomalies-hypotonia-seizures syndrome +   
Myopathy with Lactic Acidosis, Hereditary  
MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT  
NARP syndrome  
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  
OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA  
Progressive Encephalopathy with Amyotrophy and Optic Atrophy  
Pyruvate Dehydrogenase E1 Alpha Deficiency  
Pyruvate Dehydrogenase E2 Deficiency  
Pyruvate Dehydrogenase E3-Binding Protein Deficiency  
Pyruvate Dehydrogenase Phosphatase Deficiency  
Qazi Markouizos syndrome 
Scalp Ear Nipple Syndrome  
SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE  
Tricarboxylic Acid Cycle, Defect of 
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 

Synonyms
Exact Synonyms: COXPD3 ;   Concentric Cardiomyopathy, Hypotonia, And Lactic Acidosis ;   Encephalomyopathy, Respiratory Failure, And Lactic Acidosis
Primary IDs: MESH:C566467 ;   RDO:0014811
Alternate IDs: OMIM:610505

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