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Term:
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts (DOID:9006884)
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Parent Terms Term With Siblings Child Terms
cardiomyopathy +     
cataract +     
muscular disease +     
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia  
Adams Nance Syndrome 
alcoholic cardiomyopathy  
Alpha-B Crystallinopathy with Cataract 
Aniridia 1  
Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract 
Arachnodactyly Ataxia Cataract Aminoaciduria Mental Retardation 
Arthrogryposis +   
Ataxia, Deafness, and Cardiomyopathy 
Ataxia-Microcephaly-Cataract Syndrome 
Atrial Dilation and Standstill +   
atrophic muscular disease +   
autosomal recessive limb-girdle muscular dystrophy type 2D  
Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 
Axial Myopathy, Late-Onset +   
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 
Ayme-Gripp syndrome  
Bassoe Syndrome 
Bhaskar Jagannathan Syndrome 
CAHMR Syndrome 
CAMFAK Syndrome 
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 
Capsule Opacification 
Cardiomyopathy Associated with Myopathy and Sudden Death 
Cardiomyopathy Hypogonadism Collagenoma Syndrome 
Cardioneuromyopathy with Hyaline Masses and Nemaline Rods 
Carey-Fineman-Ziter syndrome  
cataract 1 multiple types  
cataract 10 multiple types  
cataract 11 multiple types +   
cataract 12 multiple types  
cataract 13 with adult i phenotype  
cataract 14 multiple types  
cataract 15 multiple types  
cataract 16 multiple types  
cataract 17 multiple types  
cataract 18  
cataract 19 multiple types  
cataract 2 multiple types  
cataract 20 multiple types  
cataract 21 multiple types  
cataract 22 multiple types  
cataract 23  
cataract 24 
cataract 25 
cataract 26 multiple types 
cataract 27  
cataract 28 
cataract 29 
cataract 3 multiple types  
cataract 30  
cataract 31 multiple types  
cataract 32 multiple types 
cataract 33  
cataract 34 multiple types  
cataract 35 
cataract 36  
cataract 37 
cataract 38  
cataract 39 multiple types  
cataract 4 multiple types +   
cataract 40  
cataract 41  
cataract 42  
cataract 43  
cataract 44  
cataract 45  
cataract 46 juvenile-onset  
cataract 47  
cataract 48  
cataract 5 multiple types  
cataract 6 multiple types  
cataract 7  
cataract 8 multiple types 
cataract 9 multiple types  
Cataract and Congenital Ichthyosis 
Cataract Ataxia Deafness 
Cataract Microcornea Syndrome  
Cataract, Age-Related Nuclear 
Cataract, Autosomal Dominant Nuclear  
Cataract, Autosomal Recessive Congenital 1 
Cataract, Congenital Dominant Non Nuclear 
Cataract, Cortical Pulverulent, Late-Onset 
Cataract, Crystalline Coralliform 
Cataract, Floriform 
Cataract, Lamellar 2 
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
Cataract, Polymorphic and Lamellar 
Cataract, Posterior Polar, 5 
Cataract, Progressive Polymorphic Cortical 
Cataract, Pulverulent 
Cataract, Sutural, with Punctate and Cerulean Opacities 
Cataract, Variable Zonular Pulverulent 
Cataract, Zonular Central Nuclear 
Cataracts, Ataxia, Short Stature, and Mental Retardation 
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA  
central pontine myelinolysis  
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
Chagas Cardiomyopathy  
chronic fatigue syndrome  
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 
compartment syndrome +   
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy 
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
Congenital Cataracts, Hearing Loss, and Neurodegeneration  
Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism 
congenital muscular dystrophy with cataracts and intellectual disability  
Congenital Myopathy with Neuropathy and Deafness  
Contracture +   
Cornea Guttata with Anterior Polar Cataract 
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniomandibular Disorders +   
Crome Syndrome 
Danon disease  
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
Diabetic Cardiomyopathies  
diabetic cataract  
diaphragm disease +   
Dimauro Disease  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Early-Onset Myopathy with Fatal Cardiomyopathy  
EDICT Syndrome  
Ehlers-Danlos syndrome kyphoscoliotic type 2  
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
endocardial fibroelastosis +   
endomyocardial fibrosis  
eosinophilia-myalgia syndrome  
Erythrocyte Amp Deaminase Deficiency  
Erythrocyte Lactate Transporter Defect  
Ethanolaminosis 
extrinsic cardiomyopathy +   
Familial Cardiac Lipidosis 
familial periodic paralysis +   
Fatal Fetal Cardiomyopathy due to Myocardial Calcification 
fibromyalgia +   
Fine-Lubinsky Syndrome 
Fingerprint Body Myopathy 
Flynn Aird Syndrome 
Gamstorp-Wohlfart syndrome  
glutaric acidemia I  
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE  
Goldstein Hutt Syndrome 
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts  
hepatic encephalopathy +   
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis  
hereditary spastic paraplegia 9A  
High Myopia with Cataract and Vitreoretinal Degeneration  
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 
hyperferritinemia-cataract syndrome  
Hypertaurinuric Cardiomyopathy 
Hypertrophia Musculorum Vera 
Hypertrophic Neuropathy and Cataract 
hypomyelinating leukodystrophy 5  
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY  
Internal Anal Sphincter Myopathy 
intrinsic cardiomyopathy +   
Isolated Microphthalmia with Cataract 1 
Isolated Microphthalmia with Cataract 2  
Isolated Microphthalmia with Cataract 3  
Isolated Microphthalmia with Cataract 4 
ITM2B-related cerebral amyloid angiopathy 2  
Kahrizi syndrome  
Karandikar Maria Kamble Syndrome 
Kearns-Sayre syndrome  
kernicterus +   
Keshan disease  
Kocher-Debre-Semelaigne Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Krasnow Qazi Syndrome 
Late-Onset Carnitine Palmitoyltransferase II Deficiency  
Leg, Absence Deformity of, with Congenital Cataract 
linear skin defects with multiple congenital anomalies 3  
Lipodystrophy with Congenital Cataracts and Neurodegeneration  
Lubinsky Syndrome 
Marchiafava-Bignami Disease 
Marinesco-Sjogren syndrome  
Marshall syndrome +   
Martsolf syndrome  
Medial Tibial Stress Syndrome 
Metabolic Brain Diseases, Inborn +   
Microcephalic Primordial Dwarfism Toriello Type 
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 
Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1  
Microphthalmia, Cataracts, and Iris Abnormalities  
Mitochondrial Cardiomyopathy  
mitochondrial DNA depletion syndrome 12a  
mitochondrial DNA depletion syndrome 12b  
Mitochondrial DNA Depletion Syndrome, Myopathic Form +   
mitochondrial encephalomyopathy +   
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
Mousa Al din Al Nassar Syndrome 
Muscle Cramp +   
Muscle Rigidity +   
Muscle Spasticity +   
muscle tissue disease +   
Muscle Weakness +   
Muscular Dystrophy, Cardiac Type 
Muscular Hypoplasia, Congenital Universal, of Krabbe 
Musculoskeletal Pain +   
Myalgia +   
Myocardial Reperfusion Injury  
myocarditis +   
myofascial pain syndrome +   
myofibrillar myopathy 2  
Myopathic Carnitine Deficiency 
Myopathy with Lactic Acidosis, Hereditary  
Myopathy, Cataract, Hypogonadism Syndrome 
Myopathy, Granulovacuolar Lobular, with Electrical Myotonia 
myositis +   
myostatin-related muscle hypertrophy  
myotonic cataract 
myotonic disease +   
Myotoxicity 
Nance-Horan syndrome  
Nathalie Syndrome 
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies  
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES  
neutral lipid storage disease +   
O'Donnell Pappas Syndrome  
Oculoskeletodental Syndrome  
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 
optic atrophy 3  
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
palmoplantar keratoderma and congenital alopecia 2 
Pavone Fiumara Rizzo Syndrome 
Pectoralis Muscle, Absence of 
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss  
Peters Anomaly with Cataract 
PHARC syndrome  
Polycystic Kidney, Cataract, and Congenital Blindness 
posterior polar cataract  
Premature Aging, Okamoto Type 
Proximal Myopathy with Focal Depletion of Mitochondria 
pyridoxamine 5'-phosphate oxidase deficiency  
Recurrent Metabolic Encephalomyopathic Crises with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration  
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT  
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
Reye syndrome  
Rhabdomyolysis +   
Roifman Syndrome  
Schaap Taylor Baraitser Syndrome 
Schofer Beetz Bohl Syndrome 
Seemanova Lesny Syndrome 
Sengers syndrome  
senile cataract +   
Seow Najjar Syndrome 
Singh Chhaparwal Dhanda Syndrome 
Singleton Merten Syndrome +   
Skeletal Muscle Injuries  
Skeletal Muscle Reperfusion Injury  
Slavotinek Pike Mills Hurst Syndrome 
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Spondyloocular Syndrome, Autosomal Recessive  
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
syndromic microphthalmia 2  
systemic primary carnitine deficiency disease  
Tel Hashomer Camptodactyly Syndrome 
tendinitis +   
tetanic cataract 
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)  
Treft Sanborn Carey Syndrome 
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 
Uruguay faciocardiomusculoskeletal syndrome  
Vacuolar Myopathy  
very long chain acyl-CoA dehydrogenase deficiency  
Vici syndrome  
Warburg micro syndrome +   
Wellesley Carmen French Syndrome 
Wernicke encephalopathy  
Zonular Cataract and Nystagmus  

Synonyms
Primary IDs: MESH:C565596
Alternate IDs: RDO:0014189

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