| 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|Acrodysostosis|Multi-systematic Smooth Muscle Dysfunction Syndrome|CRELD1 (Cysteine Rich With EGF Like Domains 1)|GNB1 Syndrome|Pyruvate Dehydrogenase Complex Deficiency Disease|Beta Mannosidosis|Kbg Syndrome|Labrune Syndrome|Metachromatic Leukodystrophy (MLD)|Moyamoya Disease|OPHN1 Syndrome|Oculopharyngeal Muscular Dystrophy (OPMD)|TUBB3 Mutation|WOREE (WWOX-related Epileptic Encephalopathy|SCAR12|Skraban-Deardorff Syndrome|Hereditary Myopathy With Early Respiratory Failure |