| Conditions |
Rare Disorders;Undiagnosed Disorders;Disorders of Unknown Prevalence;Cornelia De Lange Syndrome;Prenatal Benign Hypophosphatasia;Perinatal Lethal Hypophosphatasia;Odontohypophosphatasia;Adult Hypophosphatasia;Childhood-onset Hypophosphatasia;Infantile Hypophosphatasia;Hypophosphatasia;Kabuki Syndrome;Bohring-Opitz Syndrome;Narcolepsy Without Cataplexy;Narcolepsy-cataplexy;Hypersomnolence Disorder;Idiopathic Hypersomnia Without Long Sleep Time;Idiopathic Hypersomnia With Long Sleep Time;Idiopathic Hypersomnia;Kleine-Levin Syndrome;Kawasaki Disease;Leiomyosarcoma;Leiomyosarcoma of the Corpus Uteri;Leiomyosarcoma of the Cervix Uteri;Leiomyosarcoma of Small Intestine;Acquired Myasthenia Gravis;Addison Disease;Hyperacusis (Hyperacousis);Juvenile Myasthenia Gravis;Transient Neonatal Myasthenia Gravis;Williams Syndrome;Lyme Disease;Myasthenia Gravis;Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome);Isolated Klippel-Feil Syndrome;Frasier Syndrome;Denys-Drash Syndrome;Beckwith-Wiedemann Syndrome;Emanuel Syndrome;Isolated Aniridia;Axenfeld-Rieger Syndrome;Aniridia-intellectual Disability Syndrome;Aniridia - Renal Agenesis - Psychomotor Retardation;Aniridia - Ptosis - Intellectual Disability - Familial Obesity;Aniridia - Cerebellar Ataxia - Intellectual Disability;Aniridia - Absent Patella;Aniridia;Peters Anomaly - Cataract;Peters Anomaly;Potocki-Shaffer Syndrome;Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11;Silver-Russell Syndrome Due to Imprinting Defect of 11p15;Silver-Russell Syndrome Due to 11p15 Microduplication;Syndromic Aniridia;WAGR Syndrome;Wolf-Hirschhorn Syndrome;4p16.3 Microduplication Syndrome;4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome;Autosomal Recessive Stickler Syndrome;Stickler Syndrome Type 2;Stickler Syndrome Type 1;Stickler Syndrome;Mucolipidosis Type 4;X-linked Spinocerebellar Ataxia Type 4;X-linked Spinocerebellar Ataxia Type 3;X-linked Intellectual Disability - Ataxia - Apraxia;X-linked Progressive Cerebellar Ataxia;X-linked Non Progressive Cerebellar Ataxia;X-linked Cerebellar Ataxia;Vitamin B12 Deficiency Ataxia;Toxic Exposure Ataxia;Unclassified Autosomal Dominant Spinocerebellar Ataxia;Thyroid Antibody Ataxia;Sporadic Adult-onset Ataxia of Unknown Etiology;Spinocerebellar Ataxia With Oculomotor Anomaly;Spinocerebellar Ataxia With Epilepsy;Spinocerebellar Ataxia With Axonal Neuropathy Type 2;Spinocerebellar Ataxia Type 8;Spinocerebellar Ataxia Type 7;Spinocerebellar Ataxia Type 6;Spinocerebellar Ataxia Type 5;Spinocerebellar Ataxia Type 4;Spinocerebellar Ataxia Type 37;Spinocerebellar Ataxia Type 36;Spinocerebellar Ataxia Type 35;Spinocerebellar Ataxia Type 34;Spinocerebellar Ataxia Type 32;Spinocerebellar Ataxia Type 31;Spinocerebellar Ataxia Type 30;Spinocerebellar Ataxia Type 3;Spinocerebellar Ataxia Type 29;Spinocerebellar Ataxia Type 28;Spinocerebellar Ataxia Type 27;Spinocerebellar Ataxia Type 26;Spinocerebellar Ataxia Type 25;Spinocerebellar Ataxia Type 23;Spinocerebellar Ataxia Type 22;Spinocerebellar Ataxia Type 21;Spinocerebellar Ataxia Type 20;Spinocerebellar Ataxia Type 2;Spinocerebellar Ataxia Type 19/22;Spinocerebellar Ataxia Type 18;Spinocerebellar Ataxia Type 17;Spinocerebellar Ataxia Type 16;Spinocerebellar Ataxia Type 15/16;Spinocerebellar Ataxia Type 14;Spinocerebellar Ataxia Type 13;Spinocerebellar Ataxia Type 12;Spinocerebellar Ataxia Type 11;Spinocerebellar Ataxia Type 10;Spinocerebellar Ataxia Type 1 With Axonal Neuropathy;Spinocerebellar Ataxia Type 1;Spinocerebellar Ataxia - Unknown;Spinocerebellar Ataxia - Dysmorphism;Non Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature;Spasticity-ataxia-gait Anomalies Syndrome;Spastic Ataxia With Congenital Miosis;Spastic Ataxia - Corneal Dystrophy;Spastic Ataxia;Rare Hereditary Ataxia;Rare Ataxia;Recessive Mitochondrial Ataxia Syndrome;Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature;Posterior Column Ataxia - Retinitis Pigmentosa;Post-Stroke Ataxia;Post-Head Injury Ataxia;Post Vaccination Ataxia;Polyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - Cataract;Muscular Atrophy - Ataxia - Retinitis Pigmentosa - Diabetes Mellitus;Non-hereditary Degenerative Ataxia;Paroxysmal Dystonic Choreathetosis With Episodic Ataxia and Spasticity;Olivopontocerebellar Atrophy - Deafness;NARP Syndrome;Myoclonus - Cerebellar Ataxia - Deafness;Multiple System Atrophy, Parkinsonian Type;Multiple System Atrophy, Cerebellar Type;Multiple System Atrophy;Maternally-inherited Leigh Syndrome;Machado-Joseph Disease Type 3;Machado-Joseph Disease Type 2;Machado-Joseph Disease Type 1;Leigh Syndrome;Late-onset Ataxia With Dementia;Infection or Post Infection Ataxia;GAD Ataxia;Hereditary Episodic Ataxia;Gliadin/Gluten Ataxia;Friedreich Ataxia;Fragile X-associated Tremor/Ataxia Syndrome;Familial Paroxysmal Ataxia;Exposure to Medications Ataxia;Episodic Ataxia With Slurred Speech;Episodic Ataxia Unknown Type;Episodic Ataxia Type 7;Episodic Ataxia Type 6;Episodic Ataxia Type 5;Episodic Ataxia Type 4;Episodic Ataxia Type 3;Episodic Ataxia Type 1;Epilepsy and/or Ataxia With Myoclonus as Major Feature;Early-onset Spastic Ataxia-neuropathy Syndrome;Early-onset Progressive Neurodegeneration - Blindness - Ataxia - Spasticity;Early-onset Cerebellar Ataxia With Retained Tendon Reflexes;Early-onset Ataxia With Dementia;Childhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia;Dilated Cardiomyopathy With Ataxia;Cataract - Ataxia - Deafness;Cerebellar Ataxia, Cayman Type;Cerebellar Ataxia With Peripheral Neuropathy;Cerebellar Ataxia - Hypogonadism;Cerebellar Ataxia - Ectodermal Dysplasia;Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss;Brain Tumor Ataxia;Brachydactyly - Nystagmus - Cerebellar Ataxia;Benign Paroxysmal Tonic Upgaze of Childhood With Ataxia;Autosomal Recessive Syndromic Cerebellar Ataxia;Autosomal Recessive Spastic Ataxia With Leukoencephalopathy;Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay;Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria;Autosomal Recessive Spastic Ataxia;Autosomal Recessive Metabolic Cerebellar Ataxia;Autosomal Dominant Spinocerebellar Ataxia Due to Repeat Expansions That do Not Encode Polyglutamine;Autosomal Recessive Ataxia, Beauce Type;Autosomal Recessive Ataxia Due to Ubiquinone Deficiency;Autosomal Recessive Ataxia Due to PEX10 Deficiency;Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia;Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency;Autosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 Deficiency;Autosomal Recessive Congenital Cerebellar Ataxia;Autosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia Syndrome;Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to WWOX Deficiency;Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to TUD Deficiency;Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to KIAA0226 Deficiency;Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome;Autosomal Recessive Cerebellar Ataxia With Late-onset Spasticity;Autosomal Recessive Cerebellar Ataxia Due to STUB1 Deficiency;Autosomal Recessive Cerebellar Ataxia Due to a DNA Repair Defect;Autosomal Recessive Cerebellar Ataxia - Saccadic Intrusion;Autosomal Recessive Cerebellar Ataxia - Psychomotor Retardation;Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness;Autosomal Recessive Cerebellar Ataxia;Autosomal Dominant Spinocerebellar Ataxia Due to a Polyglutamine Anomaly;Autosomal Dominant Spinocerebellar Ataxia Due to a Point Mutation;Autosomal Dominant Spinocerebellar Ataxia Due to a Channelopathy;Autosomal Dominant Spastic Ataxia Type 1;Autosomal Dominant Spastic Ataxia;Autosomal Dominant Optic Atrophy;Ataxia-telangiectasia Variant;Ataxia-telangiectasia;Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy;Autosomal Dominant Cerebellar Ataxia Type 4;Autosomal Dominant Cerebellar Ataxia Type 3;Autosomal Dominant Cerebellar Ataxia Type 2;Autosomal Dominant Cerebellar Ataxia Type 1;Autosomal Dominant Cerebellar Ataxia;Ataxia-telangiectasia-like Disorder;Ataxia With Vitamin E Deficiency;Ataxia With Dementia;Ataxia - Oculomotor Apraxia Type 1;Ataxia - Other;Ataxia - Genetic Diagnosis - Unknown;Acquired Ataxia;Adult-onset Autosomal Recessive Cerebellar Ataxia;Alcohol Related Ataxia;Multiple Endocrine Neoplasia;Multiple Endocrine Neoplasia Type II;Multiple Endocrine Neoplasia Type 1;Multiple Endocrine Neoplasia Type 2;Multiple Endocrine Neoplasia, Type IV;Multiple Endocrine Neoplasia, Type 3;Multiple Endocrine Neoplasia (MEN) Syndrome;Multiple Endocrine Neoplasia Type 2B;Multiple Endocrine Neoplasia Type 2A;Atypical Hemolytic Uremic Syndrome;Atypical HUS;Wiedemann-Steiner Syndrome;Breast Implant-Associated Anaplastic Large Cell Lymphoma;Autoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA);Hemophagocytic Lymphohistiocytosis;Behcet's Disease;Alagille Syndrome;Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia (IBMPFD);Lowe Syndrome;Pitt Hopkins Syndrome;1p36 Deletion Syndrome;Jansen Type Metaphyseal Chondrodysplasia;Cockayne Syndrome;Chronic Recurrent Multifocal Osteomyelitis;CRMO;Malan Syndrome;Hereditary Sensory and Autonomic Neuropathy Type Ie;VCP Disease;Hypnic Jerking;Sleep Myoclonus;Mollaret Meningitis;Recurrent Viral Meningitis;CRB1;Leber Congenital Amaurosis;Retinitis Pigmentosa;Rare Retinal Disorder;KCNMA1-Channelopathy;Primary Biliary Cirrhosis;ZMYND11;Transient Global Amnesia;Glycogen Storage Disease;Alstrom Syndrome;White Sutton Syndrome;DNM1;EIEE31;Myhre Syndrome;Recurrent Respiratory Papillomatosis;Laryngeal Papillomatosis;Tracheal Papillomatosis;Refsum Disease;Nicolaides Baraitser Syndrome;Leukodystrophy;Tango2;Cauda Equina Syndrome;Rare Gastrointestinal Disorders;Achalasia-Addisonian Syndrome;Achalasia Cardia;Achalasia Icrocephaly Syndrome;Anal Fistula;Congenital Sucrase-Isomaltase Deficiency;Eosinophilic Gastroenteritis;Idiopathic Gastroparesis;Hirschsprung Disease;Rare Inflammatory Bowel Disease;Intestinal Pseudo-Obstruction;Scleroderma;Short Bowel Syndrome;Sacral Agenesis;Sacral Agenesis Syndrome;Caudal Regression;Scheuermann Disease;SMC1A Truncated Mutations (Causing Loss of Gene Function);Cystinosis;Juvenile Nephropathic Cystinosis;Nephropathic Cystinosis;Kennedy Disease;Spinal Bulbar Muscular Atrophy;Warburg Micro Syndrome;Mucolipidoses;Mitochondrial Diseases;Mitochondrial Aminoacyl-tRNA Synthetases;Mt-aaRS Disorders;Hypertrophic Olivary Degeneration;Non-Ketotic Hyperglycinemia;Fish Odor Syndrome;Halitosis;Isolated Congenital Asplenia;Lambert Eaton (LEMS);Biliary Atresia;STAG1 Gene Mutation;Coffin Lowry Syndrome;Borjeson-Forssman-Lehman Syndrome;Blau Syndrome;Arginase 1 Deficiency;HSPB8 Myopathy;Beta-Mannosidosis;TBX4 Syndrome;DHDDS Gene Mutations;MAND-MBD5-Associated Neurodevelopmental Disorder;Constitutional Mismatch Repair Deficiency (CMMRD);SPATA5 Disorder;SPATA5L1 Related Disorder |