Enfermedades raras

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
  • Pyoderma gangrenosum
  • Cystinosis
  • Lowe syndrome
  • Kennedy Disease
  • Dermatomyositis
  • Variegate Porphyria
  • Empty Sella Syndrome
  • Familial Adenomatous Polyposis
  • Ewing Sarcoma
  • Stargardt disease
  • Rubinstein-Taybi syndrome
  • Wilson disease
  • Myotonic Dystrophy
  • Nemaline Myopathy
  • Acidemia Isovaleric
  • Hypokalemic periodic paralysis
  • Emery Dreifuss Muscular Dystrophy
  • Ataxia Telangiectasia
  • Okihiro syndrome
  • Pyknodysostosis
  • Osteopetrosis
  • Lewis-Sumner syndrome
  • Anemia, Hemolytic, Cold Antibody
  • Jansky-Bielschowsky disease
  • Sarcoidosis
  • Plasma cell leukemia
  • Chronic Intestinal Pseudo-Obstruction
  • Gastritis, Giant Hypertrophic
  • Rocky Mountain Spotted Fever
  • Wernicke-Korsakoff Syndrome
  • Human Monocytic Ehrlichiosis (HME)
  • Bell’s Palsy
  • Leukodystrophy, Krabbe’s
  • Beta Thalassemia
  • Alpha Thalassemia
  • Glutaric Aciduria Type I
  • Glutaric Aciduria Type II
  • Astrocytoma
  • Pelizaeus-Merzbacher disease
  • Acquired immune deficiency syndrome
  • Nephronophthisis
  • COACH syndrome
  • Lymphatoid granulomatosis
  • Idiopathic pulmonary hemosiderosis
  • Polyarteritis nodosa
  • Multifocal motor neuropathy
  • Smith-Lemli-Opitz (SLO) syndrome
  • Multicentric osteolysis, nodulosis and arthropathy
  • Burkitt’s lymphoma
  • Lafora disease
  • Spondyloepiphyseal Dysplasia, Congenital
  • Dyggve Melchior Clausen syndrome
  • Chronic inflammatory demyelinating polyradiculoneuropathy
  • Central Pain Syndrome
  • Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE)
  • Erythema Multiforme
  • Cole Carpenter syndrome
  • Dekaban-Arima syndrome
  • Chronic Myelogenous Leukemia
  • Meningioma
  • Hyperekplexia
  • Jumping Frenchmen of Maine
  • Townes Brocks Syndrome
  • Nance-Horan Syndrome
  • Chromosome 10, Distal Trisomy 10q
  • Dominant Multiple Epiphyseal Dysplasia
  • Primary Biliary Cholangitis
  • Canavan disease
  • Neuropathy ataxia retinitis pigmentosa syndrome
  • Bardet-Biedl Syndrome
  • Familial multiple lipomatosis
  • Acute disseminated encephalomyelitis
  • Schmidt syndrome
  • Fetal alcohol syndrome
  • Fanconi Anemia
  • Pachydermoperiostosis
  • Cardiofaciocutaneous syndrome
  • Neurofibromatosis-Noonan syndrome
  • Cyclic vomiting syndrome
  • Cone dystrophy
  • Anemia, Hereditary Nonspherocytic Hemolytic
  • Zellweger Spectrum Disorders
  • Pseudo-Hurler Polydystrophy
  • Ocular Motor Apraxia, Cogan Type
  • Familial Hypophosphatemia
  • Thyroid Cancer
  • Chiari Malformations
  • Ectodermal Dysplasias
  • X-linked adrenal hypoplasia congenita
  • Congenital adrenal hyperplasia
  • Metatropic Dysplasia I
  • Iris hypoplasia and glaucoma
  • Urea cycle disorders
  • Primary Mitochondrial Myopathies
  • Severe Combined Immunodeficiency
  • Agammaglobulinemia
  • Rasmussen Encephalitis
  • Congenital Muscular Dystrophy
  • Mucopolysaccharidosis Type III
  • Langer Giedion Syndrome
  • Great vessels transposition
  • Proteus syndrome
  • Neurofibromatosis type 1
  • Monoclonal Gammopathy of Undetermined Significance
  • Freiberg's Disease


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