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Nume Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus
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Clasificare globală Malacards Boli fetale; Boli genetice; Boli rare
Clasificare anatomică Malacards Boli ale urechii; Boli endocrine; Boli neuronale

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Boli A-Z 3mc Syndrome 3-Methylglutaconic Aciduria, Type V Ablepharon-Macrostomia Syndrome Abruzzo-Erickson Syndrome Achondroplasia Acoustic Neuroma Acquired Immunodeficiency Syndrome Acquired Thrombocytopenia Acute Cholangitis Acute Myocardial Infarction Adenocarcinoma Adenoid Hypertrophy Adenoiditis Adenoma Adult T-Cell Leukemia Age-Related Hearing Loss Aging Alcohol Abuse Allan-Herndon-Dudley Syndrome Allergic Encephalomyelitis Alopecia Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity Alport Syndrome, X-Linked Al-Raqad Syndrome Amelogenesis Imperfecta Amenorrhea Amyloidosis Amyloidosis, Hereditary, Transthyretin-Related Aneurysm Angelman Syndrome Angiolipoma Aniridia 1 Anorexia Nervosa 1 Anosmia Anoxia Antiphospholipid Syndrome Aortitis Arachnoid Cysts Arachnoiditis Aromatic Alpha-Keto Acid Reductase Arteries, Anomalies of Arteriovenous Malformation Arthritis Arthrochalasia Ehlers-Danlos Syndrome Arthrogryposis, Distal, Type 2a Aseptic Meningitis Astrocytoma Ataxia and Polyneuropathy, Adult-Onset Ataxia-Oculomotor Apraxia 3 Audiogenic Seizures Auditory Neuropathy Spectrum Disorder Autism Autism Spectrum Disorder Autoimmune Disease Autoimmune Encephalitis Autoimmune Inner Ear Disease Autosomal Recessive Disease Autosomal Recessive Hypophosphatemic Rickets Autosomal Recessive Nonsyndromic Deafness 3 Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities Axonal Neuropathy Bacterial Meningitis Baraitser-Winter Syndrome 1 Barth Syndrome Beckwith-Wiedemann Syndrome Behr Syndrome Biotinidase Deficiency Bjornstad Syndrome Bleeding Disorder, Platelet-Type, 11 Blepharophimosis Blood Group--Ahonen Blood Group, Dombrock System Blood Group, I System Body Mass Index Quantitative Trait Locus 10 Body Mass Index Quantitative Trait Locus 11 Body Mass Index Quantitative Trait Locus 12 Body Mass Index Quantitative Trait Locus 14 Body Mass Index Quantitative Trait Locus 18 Body Mass Index Quantitative Trait Locus 4 Body Mass Index Quantitative Trait Locus 7 Body Mass Index Quantitative Trait Locus 8 Body Mass Index Quantitative Trait Locus 9 Bohring-Opitz Syndrome Bone Fracture Bone Mineral Density Quantitative Trait Locus 15 Bone Mineral Density Quantitative Trait Locus 8 Brachydactyly Brain Injury Brainstem Auditory Evoked Responses Brain Stem Glioma Branchiootic Syndrome 1 Branchiootorenal/branchiootic Syndrome Branch Retinal Artery Occlusion Brittle Bone Disorder Bronchopulmonary Dysplasia Brooke-Spiegler Syndrome Brucellosis Camptodactyly, Tall Stature, and Hearing Loss Syndrome Cardiospondylocarpofacial Syndrome Cataract Cat Eye Syndrome Cauda Equina Syndrome Central Nervous System Origin Vertigo Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss Cerebellar Degeneration Cerebellopontine Angle Meningioma Cerebellopontine Angle Tumor Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 Cerebral Atrophy Cerebritis Cerebrovascular Disease Cervicitis Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 Charge Syndrome Childhood Medulloblastoma Choanal Atresia, Posterior Cholangitis Cholesteatoma Chondrodysplasia Punctata, Brachytelephalangic, Autosomal Chondrodysplasia Punctata Syndrome Chorioamnionitis Choroiditis Chromosome 2q35 Duplication Syndrome Chronic Granulomatous Disease Chronic Inflammatory Demyelinating Polyneuropathy Chronic Progressive External Ophthalmoplegia Chudley-Mccullough Syndrome Ciliopathy Cleft Lip Cleft Lip/palate Cleidocranial Dysplasia Cleidocranial Dysplasia Spectrum Disorder Clouston Syndrome Cockayne Syndrome Coffin-Lowry Syndrome Cogan Syndrome Collagen Disease Coloboma, Ocular, Autosomal Dominant Colobomatous Microphthalmia Combined Oxidative Phosphorylation Deficiency 9 Combined Pituitary Hormone Deficiency Commissural Lip Pits Communicating Hydrocephalus Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy Cone Dystrophy Cone-Rod Dystrophy and Hearing Loss Congenital Contractures Congenital Cytomegalovirus Congenital Erosive and Vesicular Dermatosis Congenital Rubella Congenital Short Bowel Syndrome Congenital Syphilis Congenital Toxoplasmosis Connective Tissue Disease Conversion Disorder Corneal Dystrophy Cornelia De Lange Syndrome Craniofacial-Deafness-Hand Syndrome Craniofacial Microsomia Craniopharyngioma Craniosynostosis Craniosynostosis 2 Craniosynostosis with Fibular Aplasia Critical Congenital Heart Disease Crohn's Colitis Crohn's Disease Cryptococcal Meningitis Cryptococcosis Cutaneous Mastocytosis Cystinosis Cytomegalovirus Infection D-Bifunctional Protein Deficiency Deafness, Autosomal Dominant 1 Deafness, Autosomal Dominant 10 Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 12 Deafness, Autosomal Dominant 13 Deafness, Autosomal Dominant 15 Deafness, Autosomal Dominant 16 Deafness, Autosomal Dominant 20 Deafness, Autosomal Dominant 22 Deafness, Autosomal Dominant 23 Deafness, Autosomal Dominant 24 Deafness, Autosomal Dominant 27 Deafness, Autosomal Dominant 28 Deafness, Autosomal Dominant 30 Deafness, Autosomal Dominant 31 Deafness, Autosomal Dominant 36 Deafness, Autosomal Dominant 43 Deafness, Autosomal Dominant 44 Deafness, Autosomal Dominant 47 Deafness, Autosomal Dominant 49 Deafness, Autosomal Dominant 4a Deafness, Autosomal Dominant 4b Deafness, Autosomal Dominant 5 Deafness, Autosomal Dominant 50 Deafness, Autosomal Dominant 51 Deafness, Autosomal Dominant 52 Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 59 Deafness, Autosomal Dominant 6 Deafness, Autosomal Dominant 64 Deafness, Autosomal Dominant 67 Deafness, Autosomal Dominant 69 Deafness, Autosomal Dominant 9 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3 Deafness, Autosomal Recessive 12 Deafness, Autosomal Recessive 13 Deafness, Autosomal Recessive 16 Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 20 Deafness, Autosomal Recessive 24 Deafness, Autosomal Recessive 25 Deafness, Autosomal Recessive 28 Deafness, Autosomal Recessive 29 Deafness, Autosomal Recessive 30 Deafness, Autosomal Recessive 31 Deafness, Autosomal Recessive 32 Deafness, Autosomal Recessive 35 Deafness, Autosomal Recessive 39 Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 49 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct Deafness, Autosomal Recessive 53 Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 6 Deafness, Autosomal Recessive 66 Deafness, Autosomal Recessive 67 Deafness, Autosomal Recessive 8 Deafness, Autosomal Recessive 84a Deafness, Autosomal Recessive 97 Deafness, X-Linked 1 Deafness, X-Linked 2 Dementia Demyelinating Polyneuropathy Dentin Dysplasia, Type Ii Dentinogenesis Imperfecta Dentinogenesis Imperfecta 1 Dermoid Cyst Developmental Dysplasia of the Hip 1 Dfna2 Nonsyndromic Hearing Loss Dfnb1 Dfnx1 Nonsyndromic Hearing Loss and Deafness Diabetes Insipidus Diabetes Mellitus Diabetes Mellitus, Insulin-Dependent Diabetic Neuropathy Diarrhea Dilated Cardiomyopathy Donnai-Barrow Syndrome Down Syndrome Duane Retraction Syndrome Dwarfism Dyslexia Dysostosis Dystonia Dystonia, Juvenile-Onset Ear Malformation Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 Ehrlichiosis Encephalitis Encephalocele Encephalomyopathy Encephalopathy Endocarditis Endolymphatic Sac Tumor Endometriosis Endotheliitis Entropion Epidemic Typhus Epidermodysplasia Verruciformis Epilepsy Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure Epstein Syndrome Ermine Phenotype Exfoliation Syndrome Exophthalmos Fabry Disease Facial Paralysis Factitious Disorder Familial Adenomatous Polyposis Familial Expansile Osteolysis Familial Mediterranean Fever Fanconi Anemia, Complementation Group E Fanconi Syndrome Fibrodysplasia Ossificans Progressiva Fibromatosis Fibromatosis, Gingival, with Progressive Deafness Fibromuscular Dysplasia Fibrous Dysplasia Focal Segmental Glomerulosclerosis Ganglioglioma Gapo Syndrome Gastric Cancer Geniculate Herpes Zoster Genitopatellar Syndrome Germ Cells Tumors Gingival Fibromatosis Gingivitis Glaucoma-Related Pigment Dispersion Syndrome Glioma Glossopharyngeal Neuralgia Glucocorticoid Resistance, Generalized Goiter Gombo Syndrome Gonadal Dysgenesis Graves' Disease Growth Hormone Deficiency Headache Head Injury Hearing Loss, Noise-Induced Helix Syndrome Hemangioma Hemifacial Hyperplasia Hemifacial Microsomia Hemifacial Spasm Hemophagocytic Lymphohistiocytosis Hemosiderosis Hepatic Adenomas, Familial Hepatitis Hepatitis B Hepatitis C Hereditary Hearing Loss and Deafness Hereditary Sensory Neuropathy Herpes Zoster Heterochromia Iridis Hinman Syndrome Histiocytosis Histiocytosis-Lymphadenopathy Plus Syndrome Hodgkin's Lymphoma, Nodular Sclerosis Horns in Sheep Human Monocytic Ehrlichiosis Hydrocephalus Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 Hyperacusis Hyperandrogenism Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant Hypercholesterolemia, Autosomal Dominant, 3 Hyperglycemia Hyperinsulinemic Hypoglycemia Hyperinsulinemic Hypoglycemia, Familial, 3 Hyperinsulinemic Hypoglycemia, Familial, 4 Hyperinsulinism Hyperostosis Hyperprolactinemia Hypertelorism Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy Hypertensive Retinopathy Hypertrichosis Hypertrophic Cardiomyopathy Hypoadrenocorticism, Familial Hypocomplementemic Urticarial Vasculitis Hypoglossia-Hypodactylia Hypoglycemia Hypogonadism Hypogonadotropic Hypogonadism Hypogonadotropism Hypomelanotic Disorder Hypoparathyroidism Hypopituitarism Hypoplastic Left Heart Syndrome Hypospadias Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss Hypotonia Hypotrichosis Ichthyosis Immunoglobulin E Concentration, Serum Infective Endocarditis Infertility Inner Ear Disease Interstitial Keratitis Interstitial Nephritis Intracranial Hypotension Iritis Ischemia Johnson Neuroectodermal Syndrome Juvenile Pilocytic Astrocytoma Kallmann Syndrome Kawasaki Disease Kearns-Sayre Syndrome Keratopathy Keutel Syndrome Kid Syndrome Klippel-Feil Syndrome Klippel-Trenaunay-Weber Syndrome Knuckle Pads Knuckle Pads, Leukonychia, and Sensorineural Deafness Labyrinthitis Lacrimoauriculodentodigital Syndrome Lactic Acidosis Langerhans Cell Histiocytosis Laron Syndrome Larsen Syndrome Laryngomalacia Lassa Fever Lateral Sinus Thrombosis Leber Congenital Amaurosis 4 Left Ventricular Noncompaction Leopard Syndrome Leukemia Linear Iga Disease Lissencephaly 1 Locked-in Syndrome Lupus Erythematosus Lyme Disease Lymphedema Lymphoma Malignant Hypertension Malignant Spiradenoma Mannosidosis Mannosidosis, Beta a, Lysosomal Mastoiditis Measles Medulloblastoma Meester-Loeys Syndrome Melanoma Meningitis Meningocele Meningococcal Infection Meningococcal Meningitis Mental Retardation, X-Linked, Syndromic, Martin-Probst Type Metabolic Acidosis Microcephaly Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance Microcytic Anemia Microphthalmia Microscopic Polyangiitis Microtia Middle Ear Cholesterol Granuloma Middle Ear Disease Miliary Tuberculosis Mitochondrial Disorders Mitochondrial Dna Depletion Syndrome 1 Mitochondrial Encephalomyopathy Mitochondrial Myopathy Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes Mitochondrial Neurogastrointestinal Encephalomyopathy Mixed Connective Tissue Disease Mohr Syndrome Mondini Dysplasia Motion Sickness Muckle-Wells Syndrome Mucopolysaccharidoses Mucopolysaccharidosis-Plus Syndrome Mucopolysaccharidosis, Type Vii Mucosal Melanoma Mucositis Muenke Syndrome Multidrug-Resistant Tuberculosis Multiple Sclerosis Multiple Synostoses Syndrome 1 Mumps Muscular Dystrophy Musical Perfect Pitch Mycobacterium Abscessus Myelodysplastic Syndrome Myeloid Sarcoma Myocardial Infarction Myoclonus Myoclonus Epilepsy Myopathy Myotonic Dystrophy Myringitis Bullosa Hemorrhagica Nail-Patella Syndrome Narcolepsy Nasopharyngeal Carcinoma Nasopharyngitis Neonatal Jaundice Neonatal Respiratory Failure Nephrocalcinosis Nephrotic Syndrome Neuritis Neurofibromatosis, Type Iv, of Riccardi Neuroma Neuromyelitis Optica Neuromyelitis Optica Spectrum Disorder Neuronitis Neuropathy Neuropathy, Hereditary Sensory and Autonomic, Type Iii Neuropathy, Hereditary Sensory, Type Ie Neurosarcoidosis Neurosyphilis Nevus, Epidermal Niemann-Pick Disease Non-Involuting Congenital Hemangioma Nonsyndromic Deafness Nonsyndromic Hearing Loss and Deafness, Dfna3 Nonsyndromic Hearing Loss and Deafness, Dfnb1 Nonsyndromic Hearing Loss and Deafness, Mitochondrial Osteoarthritis Osteoarthritis with Mild Chondrodysplasia Osteochondroma Osteogenesis Imperfecta, Type I Osteomalacia Osteomyelitis Osteopathia Striata with Cranial Sclerosis Otitis Externa Otitis Media Otodental Dysplasia Otosclerosis Pachygyria Paraganglioma Paraplegia Pasteurella Multocida Infection Patulous Eustachian Tube Pendred Syndrome Perilymphatic Fistula Periodontitis Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss Peripheral T-Cell Lymphoma Perrault Syndrome Pfeiffer Syndrome Phace Syndrome Pick Disease of Brain Pili Torti Pilocytic Astrocytoma Plasmacytoma Pleomorphic Adenoma Pneumococcal Meningitis Polyarteritis Nodosa Polycystic Kidney Disease Polycystic Ovary Syndrome Polydactyly Polyneuropathy Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract Pontine Hemorrhage Preauricular Fistulae, Congenital Preauricular Sinus Precocious Puberty Premature Ovarian Failure 1 Primary Ciliary Dyskinesia Primary Fanconi Syndrome Primary Optic Atrophy Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 Prolidase Deficiency Propionic Acidemia Prostate Cancer Prostatitis Proximal Symphalangism Pseudoainhum Pseudohypoaldosteronism Pseudohypoparathyroidism Psoriatic Arthritis Psychotic Disorder Ptosis Pulmonary Hypertension Quadriplegia Radioulnar Synostosis Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation Relapsing Polychondritis Renal Dysplasia Renal Hypertension Renal Hypoplasia Renal Tubular Acidosis Renal Tubular Acidosis, Distal, Autosomal Recessive Retinal Artery Occlusion Retinal Degeneration Retinal Vascular Disease Retinitis Retinitis Pigmentosa Rheumatoid Arthritis Rhinoscleroma Rickets Rocky Mountain Spotted Fever Rosai-Dorfman Disease Rubella Saethre-Chotzen Syndrome Sapho Syndrome Sarcoidosis 2 Sarcoma Scleritis Scoliosis Scrub Typhus Secondary Syphilis Semicircular Canal Dehiscence Syndrome Sensorineural Hearing Loss Shaken Baby Syndrome Sickle Cell Anemia Sickle Cell Disease Siderosis Silver-Russell Syndrome Sinusitis Skin Disease Sleep Apnea Smith-Magenis Syndrome Space Motion Sickness Spastic Ataxia Spastic Ataxia, Charlevoix-Saguenay Type Spasticity Spastic Paraparesis Spinal Stenosis Split Foot Split Hand Split Hand-Foot Malformation Split Hand-Split Foot Malformation Spondylitis Spondyloarthropathy 1 Spondyloepiphyseal Dysplasia Congenita Spontaneous Intracranial Hypotension Spotted Fever Steel Syndrome Stickler Syndrome Streptococcal Meningitis Sudden Sensorineural Hearing Loss Superficial Siderosis Superficial Siderosis of the Central Nervous System Superior Semicircular Canal Dehiscence Suppurative Otitis Media Susac Syndrome Sympathetic Ophthalmia Synostoses, Tarsal, Carpal, and Digital Synostosis Synovitis Syphilis Systemic Lupus Erythematosus Systemic Scleroderma T-Cell Leukemia Telangiectasis Telecanthus Temporal Arteritis Testicular Cancer Three M Syndrome 1 Thrombosis Thyroiditis Tooth Disease Townes-Brocks Syndrome Toxic Encephalopathy Toxoplasmoză Traumatic Brain Injury Trichorhinophalangeal Syndrome, Type Ii Trigeminal Neuralgia Tuberculous Meningitis Turner Syndrome Tympanosclerosis Uremia Usher Syndrome Usher Syndrome Type 2 Usher Syndrome, Type Ig Usher Syndrome, Type Iia Uveal Coloboma-Cleft Lip and Palate-Intellectual Disability Uveitis Varicose Veins Vascular Disease Vasculitis Vertebrobasilar Insufficiency Vestibular Disease Vestibular Nystagmus Vici Syndrome Viral Labyrinthitis Vitamin B12 Deficiency Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 Vogt-Koyanagi-Harada Disease Walker-Warburg Syndrome Weber Syndrome Wells Syndrome Wernicke Encephalopathy West Nile Virus Whiplash Wildervanck Syndrome Wolfram Syndrome Wolfram Syndrome 1 Yaws Zika Virus Infection
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