Enfermedades

Condiciones contempladas por la Dra. Rachael
Incluidas actualmente	Bajo consideración	No incluidas
Crohn's Disease Acromegaly Lyme Disease Meningitis Porphyria Dercum's Disease Multiple Sclerosis Neuromyelitis Optica (Devic Disease) Pulmonary Arterial Hypertension Hemophilia Guillain-Barre syndrome Madelung’s disease Marfan syndrome Parsonage Turner Syndrome Congenital Contractural Arachnodactyly Addison’s Disease Ramsay Hunt Syndrome Tay-Sachs Disease Sandhoff Disease Kufs Disease Kawasaki Disease Toxic Shock Syndrome Wegener’s Granulomatosis Goodpasture Syndrome Cushing Syndrome Mitral Valve Prolapse Syndrome Myasthenia Gravis Lambert-Eaton Myasthenic Syndrome Reflex Sympathetic Dystrophy Syndrome Erythromelalgia Polycythemia Vera Chronic Inflammatory Demyelinating Polyneuropathy Amyloidosis Multiple Myeloma Whipple Disease Osteomyelitis Waldenström's Macroglobulinemia Maple Syrup Urine Disease Balantidiasis Propionic Acidemia Methylmalonic Acidemia Winchester Syndrome Farber’s Disease Moyamoya Disease Sickle Cell Disease Hereditary Spherocytic Hemolytic Anemia Restless Legs syndrome Refsum Disease Adrenoleukodystrophy Metachromatic Leukodystrophy Alexander Disease Type I Alexander Disease Type II Ogilvie syndrome Chronic Intestinal Pseudo-obstruction Achondrogenesis Kniest Dysplasia Campomelic Syndrome Hypophosphatasia Morquio Syndrome Osteogenesis Imperfecta Type I Osteogenesis Imperfecta Type II Osteogenesis Imperfecta Type III Osteogenesis Imperfecta Type IV Mumps Leigh Syndrome Gilbert syndrome Dubin Johnson Syndrome Crigler Najjar Syndrome Babesiosis TORCH Syndrome Vogt-Koyanagi-Harada Disease Usher Syndrome Type I Usher Syndrome Type II Usher Syndrome Type III Usher Syndrome Type IV Alström Syndrome Retinitis Pigmentosa Leber's Congenital Amaurosis Joubert Syndrome Meckel Syndrome Dubowitz Syndrome Noonan Syndrome Turner Syndrome Klinefelter Syndrome Kallmann Syndrome Acoustic Neuroma Ménière’s Disease Creutzfeldt Jakob Disease Gerstmann Syndrome Kikuchi’s Disease Hodgkin’s Disease Köhler Disease Tarsal Tunnel syndrome Sweet Syndrome Schnitzler Syndrome Familial Mediterranean Fever Familial Cold Autoinflammatory Syndrome Cogan-Reese Syndrome Chandler’s Syndrome Essential Iris Atrophy Rieger Syndrome Carnosinemia Phenylketonuria Cerebral Palsy: Tetrahydrobiopterin Deficiency Progressive Multifocal Leukoencephalopathy Paget’s disease Pallister Hall Syndrome Aarskog Syndrome Abetalipoproteinemia Ablepharon-Macrostomia Syndrome Acquired Aplastic Anemia Aceruloplasminemia Acidemia Isovaleric Yellow Nail syndrome Weil Syndrome Adult Neuronal Ceroid Lipofuscinosis Unverricht-Lundborg Disease Legg Calvé Perthes Disease Spondyloepiphyseal Dysplasia Tarda Fitz Hugh Curtis Syndrome Cholecystitis Fox Fordyce Disease Hidradenitis Suppurativa Keratosis Follicularis Fibrodysplasia Ossificans Progressiva Severe Chronic Neutropenia Lymphangioleiomyomatosis Langerhans Cell Histiocytosis Rosai-Dorfman Disease Erdheim Chester Disease Erysipelas Essential Tremor Q fever Epidermolysis Bullosa Peeling Skin Syndrome Leber Hereditary Optic Neuropathy Fatal Familial Insomnia Dupuytren’s Contracture Dravet Syndrome Spectrum Duchenne Muscular Dystrophy Dysautonomia, Familial Dyskeratosis Congenita L1 Syndrome Lenz Microphthalmia Syndrome Nance-Horan Syndrome Oculo-Dento-Digital Dysplasia Hartnup Disease Hajdu Cheney Syndrome Hantavirus Pulmonary Syndrome Henoch-Schönlein Purpura Hereditary Coproporphyria Hermansky Pudlak Syndrome Holt Oram Syndrome Hyperekplexia Hyperlipoproteinemia Type III Hypochondroplasia Hypohidrotic Ectodermal Dysplasia Amyotrophic Lateral Sclerosis Lipoprotein Lipase Deficiency Choroideremia Transthyretin Amyloidosis Susac’s syndrome Huntington disease Urbach-Wiethe Disease Hemochromatosis Hemophagocytic Lymphohistiocytosis Friedreich’s Ataxia Mastocytosis Bardet-Biedl Syndrome Gaucher disease Senior-Loken Syndrome Muckle-Wells Syndrome Churg-Strauss syndrome Sennetsu Fever Seckel Syndrome Homocystinuria Trisomy 13 Syndrome Bloom Syndrome Still’s disease Trigeminal Neuralgia Hailey-Hailey Disease Charcot-Marie-Tooth Disease Acid sphingomyelinase deficiency Gerstmann-Sträussler-Scheinker Disease Tumor Necrosis Factor Receptor-Associated Periodic Syndrome Moebius syndrome CHARGE Syndrome Primary Sclerosing Cholangitis Achondroplasia Primary Myelofibrosis Kugelberg Welander Syndrome Oral-Facial-Digital Syndrome Essential Thrombocythemia Chronic Erosive Gastritis Chronic Infantile Neurological Cutaneous Articular (CINCA) syndrome Dejerine-Sottas disease Human Granulocytic Ehrlichiosis (HGE) Costello syndrome Acute flaccid myelitis (AFM) Klippel-Trenaunay Syndrome Incontinentia pigmenti Aicardi syndrome CADASIL Li-Fraumeni syndrome Castleman disease Kabuki syndrome Cerebrotendinous xanthomatosis Larsen syndrome Kearns-Sayre syndrome Cockayne syndrome Cohen syndrome Silver-Russell syndrome Denys-Drash syndrome CHILD syndrome Waardenburg syndrome Schinzel-Giedion syndrome Pallister-Killian syndrome Systemic Capillary Leak Syndrome Acrocallosal syndrome, Schinzel type Alpha Thalassemia X-linked Intellectual Disability Syndrome McCune Albright syndrome Job syndrome Alpha-1 Antitrypsin Deficiency Chromosome 22q11.2 Deletion Syndrome Treacher Collins Syndrome Tumor-induced osteomalacia Parry Romberg Syndrome Idiopathic Pulmonary Fibrosis Macrophagic myofasciitis Congenital Disorders of Glycosylation Coffin Siris Syndrome Brugada Syndrome Tetralogy of Fallot Scleroderma Dystonia Mantle Cell Lymphoma Narcolepsy Neurofibromatosis 1 Coffin-Lowry Syndrome Hereditary Hemorrhagic Telangiectasia Dermatitis Herpetiformis Duodenal Atresia Ehlers Danlos Syndromes Hirschsprung disease Hereditary Spherocytosis MELAS syndrome Lennox-Gastaut Syndrome Fragile X Syndrome Stickler Syndrome Williams Syndrome Spinal muscular atrophy Tuberous Sclerosis Rett syndrome Von Hippel-Lindau Disease Mucopolysaccharidosis Polymyositis and Necrotizing Myopathy Cystic fibrosis Mevalonate Kinase Deficiency Blau syndromes Fabry Disease Sialidosis I-cell disease Pseudo-Hurler polydystrophy Mucolipidosis IV Pompe disease Marshall Syndrome Wolf-Hirschhorn Syndrome Diamond Blackfan Anemia Lesch-Nyhan syndrome Prader-Willi Syndrome Smith-Magenis Syndrome Angelman syndrome Ataxia with Vitamin E Deficiency Galactosemia Glycogen Storage Disease Type III Severe Chronic Neutropenia Gastrointestinal Stromal Tumors Multiple Endocrine Neoplasia Type 1 VACTERL association Behçet's syndrome Congenital central hypoventilation syndrome Phelan-McDermid syndrome Optic Nerve Hypoplasia Ocular Albinism Chediak Higashi Syndrome Apert Syndrome Landau Kleffner Syndrome Trisomy 18 Beckwith-Wiedemann Syndrome Hereditary Fructose Intolerance Primary ciliary dyskinesia Progressive supranuclear palsy Juvenile CLN3 disease Classic infantile CLN1 disease Myotonic Dystrophy Propionic Acidemia Oculo-Auriculo-Vertebral Spectrum ADNP Syndrome Menkes Disease POEMS syndrome	Juvenile arthritis, idiopathic Maple syrup urine disease Hereditary Breast and Ovarian Cancer Syndrome	Great vessels transposition Proteus syndrome Neurofibromatosis type 1

Enfermedades raras

Condiciones contempladas por la Dra. Rachael