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Tools & Reference
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Allergic and Immunologic Disorders
Goodpasture Syndrome
Granulomatosis with Polyangiitis (GPA, formerly Wegener Granulomatosis)
Leukocyte Adhesion Deficiency (LAD)
Pediatric Severe Combined Immunodeficiency
Schnitzler Syndrome
X-Linked (Bruton) Agammaglobulinemia
Benign Neoplasms
Birt-Hogg-Dube Syndrome (BHDS)
Desmoid Tumor
Drug-Induced Pemphigus
Dysplasia Epiphysealis Hemimelica (Trevor Disease)
Familial Benign Pemphigus (Hailey-Hailey Disease)
IgA Pemphigus
Lymphangioleiomyomatosis
Paraneoplastic Pemphigus
Pemphigus Erythematosus
Pemphigus Foliaceus
Pemphigus Vulgaris
Cancers
Anaplastic Thyroid Carcinoma
Angiosarcoma
Cholangiocarcinoma
Cutaneous T-Cell Lymphoma
Ewing Sarcoma
Extragonadal Germ Cell Tumors
Fibrolamellar Carcinoma
Fibrolamellar Hepatocellular Carcinoma Imaging
Follicular Thyroid Carcinoma
Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome)
Hurthle Cell Carcinoma (Oncocytic Carcinoma)
Malignant Carcinoid Syndrome
Medullary Thyroid Carcinoma
Mesothelioma
Thymoma
WAGR Syndrome
Cardiac and Vascular Conditions
Carney Complex
Eisenmenger Syndrome
Endocardial Fibroelastosis
Endomyocardial Fibrosis
Holt-Oram Syndrome
Idiopathic Pulmonary Arterial Hypertension
Endocrine and Metabolic Disorders
Acrodermatitis Enteropathica
Alkaptonuria (Black Urine Disease)
Carnitine Deficiency
Cerebrotendinous Xanthomatosis (CTX)
Congenital Adrenal Hyperplasia
Denys-Drash Syndrome
Diabetes Insipidus
Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia)
Gaucher Disease
Gigantism and Acromegaly
Glycogen Storage Diseases Types I-VII
Hunter Syndrome (Mucopolysaccharidosis Type II)
Hurler Syndrome, Hurler-Scheie Syndrome, and Scheie Syndrome (Mucopolysaccharidosis Type I)
Hypophosphatemic Rickets
Inclusion-Cell (I-Cell) Disease (Mucolipidosis Type II) and Sialidosis (Mucolipidosis Type I)
Kallmann Syndrome and Idiopathic Hypogonadotropic Hypogonadism
Kearns-Sayre Syndrome
Lowe Syndrome (Oculocerebrorenal Syndrome)
Maple Syrup Urine Disease (MSUD)
McCune-Albright Syndrome
Metachromatic Leukodystrophy
Morquio Syndrome (Mucopolysaccharidosis Type IV)
Mucopolysaccharidosis
N-Acetylglutamate Synthetase Deficiency
Ochronosis and Alkaptonuria
Ovotesticular Disorder of Sexual Development
Pediatric Hypoparathyroidism
Pheochromocytoma
Sanfilippo Syndrome (Mucopolysaccharidosis Type III)
Type Ia Glycogen Storage Disease
Type Ib Glycogen Storage Disease
Type II Glycogen Storage Disease (Pompe Disease)
Type V Glycogen Storage Disease
Type VI Glycogen Storage Disease
Type VII Glycogen Storage Disease
Gastroenterologic Conditions
Budd-Chiari Syndrome
Congenital Hepatic Fibrosis
Eosinophilic Gastrointestinal Disorders (EGIDs)
Neonatal Hemochromatosis
Ornithine Transcarbamylase (OTC) Deficiency
Pediatric Caroli Disease
Progressive Familial Intrahepatic Cholestasis
Tropical Sprue
Whipple Disease
Zollinger-Ellison Syndrome
Hematologic Disorders
Acquired Hemophilia
Acute Intermittent Porphyria
Aplastic Anemia
Bernard-Soulier Syndrome
Donath-Landsteiner Hemolytic Anemia
Evans Syndrome
Fanconi Anemia
Glanzmann Thrombasthenia
Hemophilia A (Factor VIII Deficiency)
Hemophilia B (Factor IX Deficiency)
Hemophilia C (Factor XI Deficiency)
Kasabach-Merritt Syndrome
Kikuchi Disease
May-Hegglin Anomaly
Paroxysmal Cold Hemoglobinuria
Paroxysmal Nocturnal Hemoglobinuria
Thrombocytopenia-Absent Radius Syndrome
Waldenstrom Macroglobulinemia
Infectious Diseases
Babesiosis
Botulism
Chagas Disease (American Trypanosomiasis)
Fournier Gangrene
Hantavirus Cardiopulmonary Syndrome (HCPS)
Herpes Simplex Encephalitis
Leptospirosis
Listeria Infection
Necrotizing Fasciitis
Nocardiosis
Pediatric Rubella
Plague
Purpura Fulminans
Q Fever
Rabies
Smallpox
Toxic Epidermal Necrolysis (TEN)
Tuberculous Meningitis
Variant Creutzfeldt-Jakob Disease and Bovine Spongiform Encephalopathy
Yellow Fever
Musculoskeletal Conditions
Achondroplasia
Brown-Sequard Syndrome
Fibrous Dysplasia Pathology
Spinal Muscular Atrophy Type III
Neurologic Conditions
Acute Disseminated Encephalomyelitis
Chronic Inflammatory Demyelinating Polyradiculoneuropathy
Fibromuscular Dysplasia
Guillain-Barre Syndrome
Hereditary Spastic Paraplegia
Huntington Disease
Infantile Epileptic Spasms Syndrome (West Syndrome)
Krabbe Disease
Lambert-Eaton Myasthenic Syndrome (LEMS)
Lesch-Nyhan Disease
Limb-Girdle Muscular Dystrophy
Medulloblastoma
Meningioma
Meningiomas Pathology
Methylmalonic Acidemia
Moebius Syndrome
Myasthenia Gravis
Myasthenia Gravis and Pregnancy
Neuroacanthocytosis Syndromes
Optic Neuritis and Neuropathy
Pediatric Guillain-Barre Syndrome
Pelizaeus-Merzbacher Disease
Propionic Acidemia
Schwartz-Jampel Syndrome
Sphenoid Wing Meningioma
Tolosa-Hunt Syndrome
Ophthalmologic Conditions
Benign Essential Blepharospasm
Best Disease
Familial Dysautonomia
Hermansky-Pudlak Syndrome
Kearns-Sayre Syndrome
Marcus Gunn Jaw-winking Syndrome
Vogt-Koyanagi-Harada (VKH) Disease
von Hippel-Lindau Disease
Pediatric Diseases
Aicardi Syndrome
Asphyxiating Thoracic Dystrophy (Jeune Syndrome)
Bloom Syndrome (Congenital Telangiectatic Erythema)
Chediak-Higashi Syndrome
CHILD Syndrome
Craniofacial Syndromes
Cystinosis
Danon Disease
Ectodermal Dysplasia
Ellis-van Creveld Syndrome
Epidermal Nevus Syndrome
Epidermolytic Ichthyosis (Epidermolytic Hyperkeratosis or Bullous Congenital Ichthyosiform Erythroderma)
Erythrokeratodermia Variabilis et Progressiva
Focal Dermal Hypoplasia Syndrome
Haberland Syndrome (Encephalocraniocutaneous Lipomatosis)
Harlequin Ichthyosis
Incontinentia Pigmenti
Infantile Epileptic Spasms Syndrome (West Syndrome)
Kernicterus
Lamellar Ichthyosis
LEOPARD Syndrome
Mandibulofacial Dysostosis (Treacher Collins Syndrome)
Marfan Syndrome (MFS)
Meckel-Gruber Syndrome
Naegeli-Franceschetti-Jadassohn Syndrome
Ornithine Transcarbamylase (OTC) Deficiency
Ovotesticular Disorder of Sexual Development
Pediatric Medulloblastoma
Pediatric Severe Combined Immunodeficiency
Refsum Disease
Reye Syndrome
Rickets
Rothmund-Thomson Syndrome
Rubinstein-Taybi Syndrome
Sjögren-Larsson Syndrome
Waardenburg Syndrome
Werner Syndrome
Winchester Syndrome
Wolf-Hirschhorn Syndrome
Rheumatologic Disorders
Eosinophilia-Myalgia Syndrome
Eosinophilic Fasciitis
Felty Syndrome
Pediatric Fibrodysplasia Ossificans Progressiva (Myositis Ossificans)
Relapsing Polychondritis
Skin and Soft Tissue Conditions
Acute Febrile Neutrophilic Dermatosis (Sweet Syndrome)
Blue Rubber Bleb Nevus Syndrome
Degos Disease (Malignant Atrophic Papulosis)
Dermatomyositis
Epidermolysis Bullosa
Epidermolysis Bullosa Acquisita
Erythema Multiforme
Keratosis Follicularis (Darier Disease)
Langerhans Cell Histiocytosis
Nephrogenic Systemic Fibrosis
Pachyonychia Congenita
Pityriasis Rubra Pilaris
All
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C
D
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M
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SWIPE FOR MORE
Schnitzler Syndrome
X-Linked (Bruton) Agammaglobulinemia
Granulomatosis with Polyangiitis (GPA, formerly Wegener Granulomatosis)
Pediatric Severe Combined Immunodeficiency
Goodpasture Syndrome
Leukocyte Adhesion Deficiency (LAD)
Pemphigus Erythematosus
Pemphigus Foliaceus
Desmoid Tumor
Familial Benign Pemphigus (Hailey-Hailey Disease)
Birt-Hogg-Dube Syndrome (BHDS)
Pemphigus Vulgaris
Drug-Induced Pemphigus
Lymphangioleiomyomatosis
Paraneoplastic Pemphigus
Dysplasia Epiphysealis Hemimelica (Trevor Disease)
IgA Pemphigus
Fibrolamellar Hepatocellular Carcinoma Imaging
Cutaneous T-Cell Lymphoma
Extragonadal Germ Cell Tumors
Thymoma
Anaplastic Thyroid Carcinoma
Cholangiocarcinoma
Fibrolamellar Carcinoma
Hurthle Cell Carcinoma (Oncocytic Carcinoma)
Medullary Thyroid Carcinoma
Malignant Carcinoid Syndrome
Ewing Sarcoma
Angiosarcoma
Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome)
Mesothelioma
Follicular Thyroid Carcinoma
WAGR Syndrome
Idiopathic Pulmonary Arterial Hypertension
Holt-Oram Syndrome
Endomyocardial Fibrosis
Carney Complex
Eisenmenger Syndrome
Endocardial Fibroelastosis
Kallmann Syndrome and Idiopathic Hypogonadotropic Hypogonadism
Carnitine Deficiency
Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia)
Congenital Adrenal Hyperplasia
Denys-Drash Syndrome
McCune-Albright Syndrome
Pediatric Hypoparathyroidism
Inclusion-Cell (I-Cell) Disease (Mucolipidosis Type II) and Sialidosis (Mucolipidosis Type I)
Gigantism and Acromegaly
Pheochromocytoma
Hypophosphatemic Rickets
Gaucher Disease
N-Acetylglutamate Synthetase Deficiency
Alkaptonuria (Black Urine Disease)
Mucopolysaccharidosis
Hurler Syndrome, Hurler-Scheie Syndrome, and Scheie Syndrome (Mucopolysaccharidosis Type I)
Hunter Syndrome (Mucopolysaccharidosis Type II)
Morquio Syndrome (Mucopolysaccharidosis Type IV)
Maple Syrup Urine Disease (MSUD)
Lowe Syndrome (Oculocerebrorenal Syndrome)
Ochronosis and Alkaptonuria
Diabetes Insipidus
Kearns-Sayre Syndrome
Acrodermatitis Enteropathica
Metachromatic Leukodystrophy
Glycogen Storage Diseases Types I-VII
Sanfilippo Syndrome (Mucopolysaccharidosis Type III)
Type II Glycogen Storage Disease (Pompe Disease)
Ovotesticular Disorder of Sexual Development
Type VI Glycogen Storage Disease
Type VII Glycogen Storage Disease
Type Ia Glycogen Storage Disease
Type Ib Glycogen Storage Disease
Type V Glycogen Storage Disease
Cerebrotendinous Xanthomatosis (CTX)
Neonatal Hemochromatosis
Budd-Chiari Syndrome
Congenital Hepatic Fibrosis
Progressive Familial Intrahepatic Cholestasis
Eosinophilic Gastrointestinal Disorders (EGIDs)
Whipple Disease
Pediatric Caroli Disease
Ornithine Transcarbamylase (OTC) Deficiency
Zollinger-Ellison Syndrome
Tropical Sprue
Acquired Hemophilia
Evans Syndrome
Paroxysmal Cold Hemoglobinuria
Thrombocytopenia-Absent Radius Syndrome
May-Hegglin Anomaly
Paroxysmal Nocturnal Hemoglobinuria
Waldenstrom Macroglobulinemia
Hemophilia B (Factor IX Deficiency)
Bernard-Soulier Syndrome
Donath-Landsteiner Hemolytic Anemia
Hemophilia C (Factor XI Deficiency)
Hemophilia A (Factor VIII Deficiency)
Aplastic Anemia
Kasabach-Merritt Syndrome
Acute Intermittent Porphyria
Glanzmann Thrombasthenia
Kikuchi Disease
Fanconi Anemia
Listeria Infection
Smallpox
Botulism
Fournier Gangrene
Plague
Q Fever
Chagas Disease (American Trypanosomiasis)
Toxic Epidermal Necrolysis (TEN)
Babesiosis
Nocardiosis
Herpes Simplex Encephalitis
Tuberculous Meningitis
Rabies
Variant Creutzfeldt-Jakob Disease and Bovine Spongiform Encephalopathy
Purpura Fulminans
Necrotizing Fasciitis
Pediatric Rubella
Yellow Fever
Hantavirus Cardiopulmonary Syndrome (HCPS)
Leptospirosis
Fibrous Dysplasia Pathology
Brown-Sequard Syndrome
Achondroplasia
Spinal Muscular Atrophy Type III
Krabbe Disease
Hereditary Spastic Paraplegia
Huntington Disease
Infantile Epileptic Spasms Syndrome (West Syndrome)
Lambert-Eaton Myasthenic Syndrome (LEMS)
Medulloblastoma
Meningioma
Chronic Inflammatory Demyelinating Polyradiculoneuropathy
Guillain-Barre Syndrome
Myasthenia Gravis
Sphenoid Wing Meningioma
Acute Disseminated Encephalomyelitis
Fibromuscular Dysplasia
Lesch-Nyhan Disease
Limb-Girdle Muscular Dystrophy
Pediatric Guillain-Barre Syndrome
Pelizaeus-Merzbacher Disease
Schwartz-Jampel Syndrome
Moebius Syndrome
Neuroacanthocytosis Syndromes
Myasthenia Gravis and Pregnancy
Methylmalonic Acidemia
Meningiomas Pathology
Propionic Acidemia
Optic Neuritis and Neuropathy
Tolosa-Hunt Syndrome
Kearns-Sayre Syndrome
Familial Dysautonomia
Marcus Gunn Jaw-winking Syndrome
Vogt-Koyanagi-Harada (VKH) Disease
von Hippel-Lindau Disease
Benign Essential Blepharospasm
Best Disease
Hermansky-Pudlak Syndrome
Epidermal Nevus Syndrome
Pediatric Severe Combined Immunodeficiency
Harlequin Ichthyosis
Epidermolytic Ichthyosis (Epidermolytic Hyperkeratosis or Bullous Congenital Ichthyosiform Erythroderma)
Lamellar Ichthyosis
Marfan Syndrome (MFS)
Incontinentia Pigmenti
Infantile Epileptic Spasms Syndrome (West Syndrome)
Chediak-Higashi Syndrome
Reye Syndrome
Refsum Disease
Winchester Syndrome
Sjögren-Larsson Syndrome
Mandibulofacial Dysostosis (Treacher Collins Syndrome)
Werner Syndrome
Haberland Syndrome (Encephalocraniocutaneous Lipomatosis)
Asphyxiating Thoracic Dystrophy (Jeune Syndrome)
Waardenburg Syndrome
Rubinstein-Taybi Syndrome
Aicardi Syndrome
LEOPARD Syndrome
Wolf-Hirschhorn Syndrome
Danon Disease
Pediatric Medulloblastoma
Ectodermal Dysplasia
Rickets
Kernicterus
Craniofacial Syndromes
Bloom Syndrome (Congenital Telangiectatic Erythema)
Erythrokeratodermia Variabilis et Progressiva
Ornithine Transcarbamylase (OTC) Deficiency
Naegeli-Franceschetti-Jadassohn Syndrome
Ovotesticular Disorder of Sexual Development
Rothmund-Thomson Syndrome
Cystinosis
CHILD Syndrome
Focal Dermal Hypoplasia Syndrome
Ellis-van Creveld Syndrome
Meckel-Gruber Syndrome
Relapsing Polychondritis
Felty Syndrome
Eosinophilia-Myalgia Syndrome
Eosinophilic Fasciitis
Pediatric Fibrodysplasia Ossificans Progressiva (Myositis Ossificans)
Erythema Multiforme
Langerhans Cell Histiocytosis
Acute Febrile Neutrophilic Dermatosis (Sweet Syndrome)
Pityriasis Rubra Pilaris
Epidermolysis Bullosa
Nephrogenic Systemic Fibrosis
Blue Rubber Bleb Nevus Syndrome
Degos Disease (Malignant Atrophic Papulosis)
Epidermolysis Bullosa Acquisita
Keratosis Follicularis (Darier Disease)
Dermatomyositis
Pachyonychia Congenita
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