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Term:
Progressive External Ophthalmoplegia with Hypogonadism (DOID:9007128)
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Parent Terms Term With Siblings Child Terms
hypogonadism +     
ophthalmoplegia +     
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency  
Adenine Nucleotide Translocator Deficiency 
Alopecia, Hypogonadism, Extrapyramidal Disorder 
Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY  
Ataxia and Polyneuropathy, Adult-Onset  
Ataxia Neuropathy Spectrum  
Bassoe Syndrome 
Biemond Syndrome II 
Bjornstad syndrome  
Borjeson-Forssman-Lehmann syndrome  
Boucher-Neuhauser syndrome  
CANOMAD Syndrome 
Cantalamessa Baldini Ambrosi Syndrome 
carbamoyl phosphate synthetase I deficiency disease  
Cardiomyopathy Hypogonadism Collagenoma Syndrome 
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal  
Cerebellar Ataxia and Hypergonadotropic Hypogonadism 
Chang Davidson Carlson Syndrome 
Childhood Myocerebrohepatopathy Spectrum 
chronic progressive external ophthalmoplegia +   
Chudley-Rozdilsky Syndrome 
coenzyme Q10 deficiency disease +   
combined oxidative phosphorylation deficiency +   
congenital fibrosis of the extraocular muscles +   
Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism 
Cowden-Like Syndrome  
cytochrome-c oxidase deficiency disease +   
De Sanctis-Cacchione Syndrome  
deafness-dystonia-optic neuronopathy syndrome  
Deafness-Hypogonadism Syndrome 
Deoxyguanosine Kinase Deficiency  
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome  
distal arthrogryposis type 5  
early infantile epileptic encephalopathy 39  
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2  
Encephalopathy, Spastic Tetraparesis, and Hypogonadism 
ethylmalonic encephalopathy  
eunuchism +   
exophthalmic ophthalmoplegia 
External Ophthalmoplegia and Myopia 
External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation 
Friedreich ataxia +   
gonadal dysgenesis +   
GRACILE syndrome  
Hamano Tsukamoto Syndrome 
Hypergonadotropic Hypogonadism And Partial Alopecia 
Hypermetabolism due to Defect in Mitochondria 
Hypogonadism and Testicular Atrophy 
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
hypogonadotropic hypogonadism +   
hypomyelinating leukodystrophy 4  
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  
hypotonia-cystinuria syndrome  
Ichthyosis and Male Hypogonadism 
Inclusion Body Myopathy 3, Autosomal Dominant  
internuclear ophthalmoplegia 
Isolated Mineralocorticoid Deficiency  
IVIC syndrome  
Johnson Neuroectodermal Syndrome 
Klinefelter's syndrome  
Late-Onset Carnitine Palmitoyltransferase II Deficiency  
Leber hereditary optic neuropathy +   
Leigh disease +   
Lethal Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 1  
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation  
Lubinsky Syndrome 
Male Hypogonadism with Mental Retardation and Skeletal Anomalies 
Martsolf syndrome  
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 
MEHMO syndrome  
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1  
Miles-Carpenter syndrome  
Minicore Myopathy with External Ophthalmoplegia  
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 11  
Mitochondrial Phosphate Carrier Deficiency  
mitochondrial pyruvate carrier deficiency  
Moebius Axonal Neuropathy Hypogonadism 
Motor Neuron Disease with Dementia and Ophthalmoplegia 
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism  
multiple acyl-CoA dehydrogenase deficiency +   
multiple mitochondrial dysfunctions syndrome +   
Myopathy with Giant Abnormal Mitochondria 
Myopathy, Cataract, Hypogonadism Syndrome 
Noninsulin-Dependent Diabetes Mellitus with Deafness  
Ocular Myopathy with Curare Sensitivity 
Ophthalmoplegia Totalis with Ptosis and Miosis 
Ophthalmoplegia, Familial Static 
Ophthalmoplegia, Familial Total, with Iris Transillumination 
Ophthalmoplegic Migraine 
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 
optic atrophy 1  
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 
Parkinson's Disease, Mitochondrial  
Pearson syndrome  
Progressive External Ophthalmoplegia with Hypogonadism 
Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency 
progressive supranuclear palsy +   
Proximal Myopathy with Focal Depletion of Mitochondria 
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 
Richards-Rundle Syndrome 
Rud Syndrome 
Sarcosinemia  
Schimke X-Linked Mental Retardation Syndrome 
Scholte Syndrome 
Seemanova Lesny Syndrome 
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
Sexual Infantilism  
Slti Salem Syndrome 
Spinocerebellar Ataxia with Epilepsy  
Succinate-Coa Ligase Deficiency +   
syndromic X-linked intellectual disability Cabezas type  
Treft Sanborn Carey Syndrome 
Vasquez Hurst Sotos Syndrome 
VDAC Deficiency 
very long chain acyl-CoA dehydrogenase deficiency  
Warburg micro syndrome +   
Weinstein Kliman Scully Syndrome 
Wolfram syndrome 2  
Woodhouse-Sakati Syndrome  
Young Hughes Syndrome 

Synonyms
Primary IDs: MESH:C563576 ;   RDO:0012799

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