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Ontology Browser

Term:
Deafness Hyperuricemia Neurologic Ataxia (DOID:9000120)
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Parent Terms Term With Siblings Child Terms
Ataxia +     
Deafness +     
3-Hydroxyacyl-CoA Dehydrogenase Deficiency  
3-methylglutaconic aciduria +   
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  
5-Nucleotidase Syndrome 
6-Phosphogluconolactonase Deficiency 
Abetalipoproteinemia Neuropathy  
Absence of Tibia with Congenital Deafness 
aceruloplasminemia  
Acetylcarnitine Deficiency 
Acholinesterasemia  
Acid Phosphatase Deficiency  
Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate  
adult-onset ataxia and polyneuropathy  
Albinism Deafness Syndrome 
Alpha-Fetoprotein Deficiency  
Alpha-Fetoprotein, Hereditary Persistence of  
amino acid metabolic disorder +   
Amino Acid Transport Disorders, Inborn +   
Angiotensin I-Converting Enzyme, Benign Serum Increase  
Arene Oxide Detoxification Defect 
aromatase excess syndrome  
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 
Arts syndrome  
Aryl Hydrocarbon Hydroxylase Inducibility 
Ataxia with Fasciculations 
Ataxia with Myoclonic Epilepsy and Presenile Dementia 
Ataxia, Deafness, and Cardiomyopathy 
ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET  
ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS  
Ataxia-Microcephaly-Cataract Syndrome 
ataxic cerebral palsy 
Atonic-Astatic Syndrome of Foerster 
autosomal dominant congenital deafness with onychodystrophy  
autosomal dominant nonsyndromic deafness 65  
Ayazi Syndrome 
Bangstad Syndrome 
Behr syndrome  
Bhaskar Jagannathan Syndrome 
bilirubin metabolic disorder +   
Branchiogenic-Deafness Syndrome 
Burn-McKeown syndrome  
Butyrylcholinesterase Deficiency  
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type  
CANOMAD Syndrome 
carbohydrate metabolic disorder +   
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO  
Cardioauditory Syndrome of Sanchez Cascos 
Carnitine Acetyltransferase Deficiency  
Cataract Ataxia Deafness 
Cataracts, Ataxia, Short Stature, and Mental Retardation 
cerebral amyloid angiopathy +   
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline  
CHITOTRIOSIDASE DEFICIENCY  
Christianson syndrome  
Chromate Resistance 
COACH syndrome +   
coenzyme Q10 deficiency disease +   
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
Combined Congenital Deficiency of Intrinsic Factor and R Binder 
Combined Defect of Growth Factors 
Combined Exocrine Pancreatic Insufficiency 
Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia  
Congenital Deafness and Familial Myoclonic Epilepsy 
Congenital Deafness, with Vitiligo and Achalasia 
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 
congenital leptin deficiency  
Congenital Myopathy with Neuropathy and Deafness  
congenital secretory chloride diarrhea 1  
congenital secretory sodium diarrhea 3  
Copper Deficiency, Familial Benign 
Coumarin Sensitivity  
Coxoauricular Syndrome 
Davenport Donlan Syndrome 
Deaf-Blind Disorders +   
Deafness Hyperuricemia Neurologic Ataxia 
Deafness with Anhidrotic Ectodermal Dysplasia 
Deafness, Autosomal Dominant, due to Mutation In Myo1a 
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY  
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
Deafness, Congenital Onychodystrophy, Recessive Form 
DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY  
Deafness, with Smith-Magenis Syndrome  
Decreased Urinary Activity of Kallikrein  
Defect in Hyaluronan Metabolism 
Defect in Hydroxylation of Diphenylhydantoin 
Deficient N-Hydroxylation of Amobarbital 
Deoxyribose-5-Phosphate Aldolase Deficiency 
Diaminopentanuria 
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
dopamine beta-hydroxylase deficiency  
DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE  
Efavirenz, Poor Metabolism of  
enterokinase deficiency  
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
Ethanolaminosis 
Familial Amyloidosis +   
familial erythrocytosis 8  
familial hypocalciuric hypercalcemia +   
Familial Hypokalemia +   
familial isolated deficiency of vitamin E  
Fine-Lubinsky Syndrome  
Fountain Syndrome 
FUCOSYLTRANSFERASE 6 DEFICIENCY  
Gait Ataxia +   
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
Glucocorticoid Receptor Deficiency  
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 
Glycoprotein Storage Disease  
Glyoxalase II Deficiency  
Gordon Holmes syndrome  
Greenberg dysplasia  
hereditary ataxia +   
Hereditary Hyperbilirubinemia +   
hereditary spastic paraplegia 24 
Herrmann Syndrome 
high myopia-sensorineural deafness syndrome  
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 
Hypercalcemia, Infantile, 1  
Hyperlipoproteinemia Type II, and Deafness 
hyperphosphatemic familial tumoral calcinosis +   
HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 
Hypoadiponectinemia  
Hypokalemic Tubulopathy and Deafness  
hypomyelinating leukodystrophy 7  
hypotonia, ataxia, and delayed development syndrome  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 
immunodeficiency 43  
immunoglobulin light chain amyloidosis  
Inosine Triphosphatase Deficiency  
isolated elevated serum creatine phosphokinase levels  
isolated hyperchlorhidrosis  
ITM2B-related cerebral amyloid angiopathy 2  
Johnson Neuroectodermal Syndrome 
Jones Syndrome 
Joubert syndrome 7  
Keipert syndrome  
Keratitis-Ichthyosis-Deafness Syndrome +   
Konigsmark Knox Hussels Syndrome 
Lactate Dehydrogenase B Deficiency  
Lactic Aciduria due to D-Lactic Acid  
Leptin Receptor Deficiency  
Leukoencephalopathy with Ataxia  
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS  
Leukotriene C4 Synthase Deficiency  
lipid metabolism disorder +   
Lynch Lee Murday syndrome 
lysosomal storage disease +   
Malonic Aciduria  
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome  
Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type 
Mannose-Binding Protein Deficiency  
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 
Metabolic Brain Diseases, Inborn +   
metal metabolism disorder +   
Methemoglobin Reductase Deficiency 
Methylmalonyl-Coenzyme A Mutase Deficiency 
Meyenburg-Altherr-Uehlinger Syndrome 
Microcephaly Deafness Syndrome 
mitochondrial metabolism disease +   
Mitochondrial Myopathy, and Ataxia  
Monocarboxylate Transporter 1 Deficiency  
Monocyte Esterase Deficiency  
Muckle-Wells syndrome  
multiple synostoses syndrome 1  
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 
Myeloperoxidase Deficiency  
Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 
Myoclonus, Cerebellar Ataxia, and Deafness 
Myokymia 1  
N Acetyltransferase Deficiency +   
Nathalie Syndrome 
neonatal diabetes mellitus with congenital hypothyroidism  
Nephrosis with Deafness and Urinary Tract and Digital Malformations 
Neurodegeneration with Ataxia and Late-Onset Optic Atrophy  
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY  
neurodevelopmental disorder with eye movement abnormalities and ataxia  
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia   
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES  
Nonfunctional L-Gulonolactone Oxidase 
Noninsulin-Dependent Diabetes Mellitus with Deafness  
Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency  
Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency  
nonsyndromic deafness +   
optic atrophy 10  
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME  
Opticocochleodentate Degeneration 
overhydrated hereditary stomatocytosis  
Partington syndrome  
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 
permanent neonatal diabetes mellitus +   
peroxisomal disease +   
Perrault syndrome +   
PHARC syndrome  
Phenacetin O-Deethylase, Deficiency of  
Phenol Sulfotransferase Deficiency 
phosphoglycerate kinase 1 deficiency  
Phosphohydroxylysinuria  
plasma protein metabolism disease +   
Poor Drug Metabolism, CYP2C19-Related  
Poor Drug Metabolism, CYP2D6-Related  
Poor Metabolism of Proguanil  
porphyria +   
Posterior Column Ataxia with Retinitis Pigmentosa  
progeria +   
progressive myoclonus epilepsy 1B  
purine-pyrimidine metabolic disorder +   
pyrimidine metabolic disorder +   
Ramos Arroyo Clark Syndrome 
Reardon Wilson Cavanagh Syndrome 
renal tubular transport disease +   
Retinol-Binding Protein Deficiency 
Ribbonlike Corneal Degeneration with Deafness 
Richards-Rundle Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
Schlegelberger Grote Syndrome 
Secretory Diarrhea, Myopathy, and Deafness 
SEDOHEPTULOKINASE DEFICIENCY  
Sensory Ataxia, Autosomal Dominant 
sepiapterin reductase deficiency  
Siddiqi syndrome  
Sinoatrial Node Dysfunction and Deafness  
spastic paraplegia with deafness 
Spastic Paraplegia, Ataxia, and Mental Retardation 
Spinocerebellar Ataxias +   
spondyloepimetaphyseal dysplasia, Genevieve-type  
Squalene Synthase Deficiency  
steroid inherited metabolic disorder +   
Stomatocytosis II  
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures  
Succinic Acidemia 
SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY  
Tapetoretinal Degeneration with Ataxia 
temtamy preaxial brachydactyly syndrome  
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)  
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)  
thiopurine S-methyltransferase deficiency +   
Thyrotropin-Releasing Hormone Deficiency  
Tietz syndrome  
Transcobalamin I Deficiency  
Treft Sanborn Carey Syndrome 
Tremor of Intention, Ataxia, and Lipofuscinosis 
trimethylaminuria  
Trypsinogen Deficiency  
Tryptophanuria with Dwarfism 
type 1 diabetes mellitus 2  
Uridine-Cytidineuria  
variant ABeta2M amyloidosis 
vitamin metabolic disorder +   
warfarin resistance  
warfarin sensitivity +   
Weinstein Kliman Scully Syndrome 
Wiedemann Oldigs Oppermann Syndrome 
Wright Dyck Syndrome 
X-linked Alport syndrome  
X-linked mental retardation Gustavson type  
X-linked mental retardation-hypotonic facies syndrome-1  
X-linked retinitis pigmentosa and sinorespiratory infections  
Yemenite Deaf-Blind Hypopigmentation Syndrome 

Synonyms
Primary IDs: MESH:C535995

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