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Term:
Ataxia, Deafness, and Cardiomyopathy (DOID:9008150)
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Parent Terms Term With Siblings Child Terms
Ataxia +     
cardiomyopathy +     
Abetalipoproteinemia Neuropathy  
Acrootoocular Syndrome 
adult-onset ataxia and polyneuropathy  
alcoholic cardiomyopathy  
aminoglycoside-induced deafness  
Arts syndrome  
Ataxia with Fasciculations 
Ataxia with Myoclonic Epilepsy and Presenile Dementia 
Ataxia, Deafness, and Cardiomyopathy 
ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS  
Ataxia-Microcephaly-Cataract Syndrome 
Ataxia-Oculomotor Apraxia 4  
ataxic cerebral palsy 
Athabaskan brainstem dysgenesis syndrome  
Atonic-Astatic Syndrome of Foerster 
Atrial Dilation and Standstill +   
Auditory Neuropathy, Nonsyndromic Recessive 
autosomal dominant cerebellar ataxia, deafness and narcolepsy  
autosomal dominant nonsyndromic deafness +   
autosomal recessive limb-girdle muscular dystrophy type 2D  
autosomal recessive nonsyndromic deafness +   
autosomal recessive spinocerebellar ataxia 19  
autosomal-mitochondrial sensorineural deafness  
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 
Ayme-Gripp syndrome  
BADS syndrome 
Bangstad Syndrome 
Bart-Pumphrey syndrome  
Bartter disease type 4A  
Bartter disease type 4b  
Behr syndrome  
Benign Childhood Paroxysmal Tonic Upgaze with Ataxia 
Bhaskar Jagannathan Syndrome 
Bjornstad syndrome  
Boudhina Yedes Khiari syndrome 
Brachydactyly, Intraventricular Septal Defect, and Deafness 
Brown-Vialetto-Van Laere syndrome +   
CANOMAD Syndrome 
CAPOS Syndrome  
Cardiomyopathy Associated with Myopathy and Sudden Death 
Cardiomyopathy Hypogonadism Collagenoma Syndrome 
Cardioneuromyopathy with Hyaline Masses and Nemaline Rods 
Carnitine Acetyltransferase Deficiency  
Cataract Ataxia Deafness 
Cataracts, Ataxia, Short Stature, and Mental Retardation 
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA  
Cerebellar Ataxia and Hypergonadotropic Hypogonadism 
Cerebellar Ataxia and Neurosensory Deafness 
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
Chagas Cardiomyopathy  
Charcot-Marie-Tooth disease type 1E  
Charcot-Marie-Tooth disease type 2J  
Charcot-Marie-Tooth disease X-linked recessive 4  
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline  
Chitty Hall Baraitser Syndrome 
Christianson syndrome  
Chudley-Mccullough syndrome  
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
COACH syndrome  
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 
coenzyme Q10 deficiency disease +   
Combined Pituitary Hormone Deficiency, 3  
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia  
Congenital Deafness with Total Albinism 
Congenital Ectodermal Dysplasia with Hearing Loss 
corneal dystrophy-perceptive deafness syndrome  
cortical deafness +   
craniofacial-deafness-hand syndrome  
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness  
Danon disease  
De Hauwere syndrome 
Deafness Hyperuricemia Neurologic Ataxia 
Deafness Oligodontia Syndrome 
Deafness, High-Frequency Sensorineural, X-Linked 
Deafness, Progressive High-Tone Neural 
deafness-intellectual disability, Martin-Probst type syndrome  
Diabetic Cardiomyopathies  
Diaminopentanuria 
dilated cardiomyopathy 1J  
distal arthrogryposis type 6 
Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness  
Distal Renal Tubular Acidosis 3, Autosomal Recessive  
dominant optic atrophy plus syndrome  
Donnai-Barrow syndrome  
DOORS syndrome  
Early-Onset Myopathy with Fatal Cardiomyopathy  
EAST syndrome  
Ectodermal Dysplasia and Neurosensory Deafness 
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
endocardial fibroelastosis +   
endomyocardial fibrosis  
Ermine Phenotype 
Erythrokeratodermia with Ataxia 
extrinsic cardiomyopathy +   
Familial Cardiac Lipidosis 
familial isolated deficiency of vitamin E  
Fatal Fetal Cardiomyopathy due to Myocardial Calcification 
Fitzsimmons Walson Mellor Syndrome 
Flynn Aird Syndrome 
Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 
Gait Ataxia +   
Gemignani Syndrome 
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones 
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
Gonadal Dysgenesis, XX Type, with Deafness +   
Griscelli syndrome +   
Hearing Loss, Cisplatin-Induced  
Hearing Loss, Noise-Induced  
Hearing Loss, Unilateral Sensorineural  
Heimler syndrome 1  
hereditary ataxia +   
HID Syndrome  
high myopia-sensorineural deafness syndrome  
High-Frequency Hearing Loss  
histiocytosis-lymphadenopathy plus syndrome  
Hittner Hirsch Kreh Syndrome  
Homozygous 11p15-p14 Deletion Syndrome 
Hypertaurinuric Cardiomyopathy 
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  
hypoparathyroidism-deafness-renal disease syndrome  
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 
infantile histiocytoid cardiomyopathy  
Insulin-Like Growth Factor I Deficiency  
intrinsic cardiomyopathy +   
Johanson-Blizzard syndrome  
Joubert syndrome 7  
Kearns-Sayre syndrome  
Keshan disease  
Leukoencephalopathy with Ataxia  
linear skin defects with multiple congenital anomalies 3  
Marshall syndrome +   
Mid-Tone Neural Deafness 
Mitochondrial Cardiomyopathy  
mitochondrial DNA depletion syndrome 12a  
mitochondrial DNA depletion syndrome 12b  
Mitochondrial Myopathy, and Ataxia  
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 
Muscular Dystrophy, Cardiac Type 
MYH-9 related disease +   
Myocardial Reperfusion Injury  
myocarditis +   
myofibrillar myopathy 2  
Myokymia 1  
Nephropathy Deafness Hyperparathyroidism 
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness  
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia   
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 
Nonsyndromic Sensorineural Hearing Loss +   
ocular albinism with sensorineural deafness  
optic atrophy 10  
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 
Otodental Dysplasia 
Otofacioosseous-Gonadal Syndrome 
otospondylomegaepiphyseal dysplasia, autosomal recessive  
palmoplantar keratoderma-deafness syndrome  
Paragangliomas with Sensorineural Hearing Loss  
Partington syndrome  
Pendred syndrome  
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 
Pfeiffer Kapferer Syndrome 
PHARC syndrome  
Pigmentary Retinopathy and Sensorineural Deafness  
Posterior Column Ataxia with Retinitis Pigmentosa  
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
Presbycusis +   
progressive myoclonus epilepsy 1B  
Progressive Nephropathy with Deafness 
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 
Reardon Wilson Cavanagh Syndrome 
Retinitis Pigmentosa Inversa with Deafness 
Richards-Rundle Syndrome 
Robinson Miller Bensimon Syndrome 
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 
Roifman Syndrome  
Schaap Taylor Baraitser Syndrome 
Sengers syndrome  
Sensorineural Deafness and Male Infertility  
Sensorineural Deafness and Migraine  
Sensorineural Deafness with Hypertrophic Cardiomyopathy  
Sensorineural Deafness with Mild Renal Dysfunction  
Sensorineural Deafness with Peripheral Neuropathy and Arterial Disease 
Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth 
Sensory Ataxia, Autosomal Dominant  
Spastic Ataxia with Congenital Miosis 
Spastic Paraplegia, Ataxia, and Mental Retardation 
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 
Spinocerebellar Ataxias +   
split hand-foot malformation 1 with sensorineural hearing loss  
spondyloepimetaphyseal dysplasia, Genevieve-type  
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures  
Sudden Hearing Loss  
systemic primary carnitine deficiency disease  
Tapetoretinal Degeneration with Ataxia 
thiamine-responsive megaloblastic anemia syndrome  
Townes-Brocks syndrome +   
Treft Sanborn Carey Syndrome 
Tremor of Intention, Ataxia, and Lipofuscinosis 
Tryptophanuria with Dwarfism 
Tunglang Savage Bellman Syndrome 
Uruguay Faciocardiomusculoskeletal Syndrome  
Usher syndrome +   
uveal coloboma-cleft lip and palate-intellectual disability  
Vohwinkel syndrome  
Wolfram syndrome 2  
Wolfram syndrome, mitochondrial form 
X-linked nonsyndromic deafness +   

Synonyms
Primary IDs: MESH:C565932 ;   RDO:0014437

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