Basic Search
Advanced Search
Studies by Topic
Studies on Map

Categorize All Studies in ClinicalTrials.gov

Main Category:   Rare Diseases, Alphabetic (A-Z)
Rare Disease First Letter:   All Rare Diseases
Search for Rare Disease
Aase Syndrome   19 studies
Abdominal Aortic Aneurysm   61 studies
Abdominal Obesity Metabolic Syndrome   97 studies
Abetalipoproteinemia   2 studies
Absent T Lymphocytes   1 study
Acanthocheilonemiasis   3 studies
Acanthocytosis   2 studies
Acanthosis Nigricans   2 studies
Achalasia   11 studies
Achondroplasia   1 study
Acoustic Neuroma   4 studies
Acquired Hemophilia   3 studies
Acromegaly   62 studies
ACTH Deficiency   1 study
Actinic Cheilitis   2 studies
Acute Articular Rheumatism   3 studies
Acute Disseminated Encephalomyelitis   2 studies
Acute Erythroblastic Leukemia   128 studies
Acute Idiopathic Polyneuritis   5 studies
Acute Intermittent Porphyria   3 studies
Acute Lymphoblastic Leukemia   788 studies
Acute Lymphoblastic Leukemia, Childhood   334 studies
Acute Monoblastic Leukemia   125 studies
Acute Mountain Sickness   13 studies
Acute Myelocytic Leukemia   999 studies
Acute Myeloid Leukemia, Adult   694 studies
Acute Myeloid Leukemia, Childhood   287 studies
Acute Myelomonocytic Leukemia   122 studies
Acute Promyelocytic Leukemia   94 studies
Acute Respiratory Distress Syndrome   118 studies
Addison's Disease   15 studies
Adenocarcinoma of Lung   141 studies
Adenoid Cystic Carcinoma   69 studies
Adenomyosis   5 studies
Adrenal Gland Hyperfunction   4 studies
Adrenal Gland Hypofunction   25 studies
Adrenal Hyperplasia   16 studies
Adrenal Incidentaloma   1 study
Adrenocortical Carcinoma   38 studies
Adult Onset Still's Disease   1 study
Advanced Sleep Phase Syndrome   1 study
Afibrinogenemia   1 study
Aggressive Fibromatosis   10 studies
Aggressive Systemic Mastocytosis   3 studies
Aicardi Syndrome   2 studies
AIDS Dementia Complex   20 studies
Alagille Syndrome   3 studies
Albers-Schonberg Disease   7 studies
Albinism   6 studies
Albright's Hereditary Osteodystrophy   4 studies
Alkaptonuria   2 studies
Allergic Bronchopulmonary Aspergillosis   5 studies
Alopecia Areata   11 studies
Alopecia Totalis   4 studies
Alopecia Universalis   2 studies
Alpha 1-antitrypsin Deficiency   23 studies
Alpha-Thalassemia   2 studies
Alport Syndrome   3 studies
Alstrom Syndrome   1 study
Alveolar Echinococcosis   1 study
Alveolar Soft Part Sarcoma   25 studies
Alzheimer Disease   534 studies
Alzheimer Disease Type 2   2 studies
Amaurosis Congenita of Leber   5 studies
Amaurosis Congenita of Leber, Type 2   1 study
Amebiasis   3 studies
Amyloid Angiopathy   1 study
Amyloid Neuropathies   3 studies
Amyotrophic Lateral Sclerosis   112 studies
Anal Cancer   59 studies
Anaplastic Large Cell Lymphoma   258 studies
Ancylostoma Duodenale   8 studies
Andersen Tawil Syndrome   2 studies
Androgenetic Alopecia   7 studies
Anemia, Hereditary Spherocytic Hemolytic   1 study
Anencephaly   4 studies
Aneuploidy   13 studies
Angelman Syndrome   5 studies
Anguillulosis   3 studies
Aniridia   8 studies
Anodontia   2 studies
Anthrax   16 studies
Antiphospholipid Syndrome   12 studies
Antisocial Personality Disorder   4 studies
Aortic Coarctation   7 studies
Aortic Valve Stenosis   46 studies
Aphthous Stomatitis   9 studies
Aplastic Anemia   96 studies
Apparent Mineralocorticoid Excess   2 studies
Apraxia   6 studies
Arachnoiditis   2 studies
Argininosuccinic Aciduria   1 study
Arima Syndrome   1 study
Arnold-Chiari Malformation   16 studies
Arrhythmogenic Right Ventricular Dysplasia   3 studies
Asbestosis   1 study
Aspartylglycosaminuria   1 study
Aspergillosis   52 studies
Asphyxia Neonatorum   10 studies
Asthenia   66 studies
Asthma   1180 studies
Astrocytoma   375 studies
Ataxia-Telangiectasia   35 studies
Atrioventricular Septal Defect   2 studies
Atypical Hemolytic Uremic Syndrome   4 studies
Atypical Mole Syndrome   2 studies
Auditory Perceptual Disorder   4 studies
Autism   146 studies
Autoimmune Enteropathy   1 study
Autoimmune Hemolytic Anemia   6 studies
Autoimmune Hepatitis   6 studies
Autoimmune Lymphoproliferative Syndrome   7 studies
Autosomal Dominant Partial Epilepsy With Auditory Features   1 study
Autosomal Dominant Polycystic Kidney Disease   22 studies
B-cell Lymphomas   766 studies
Bacterial Endocarditis   12 studies
Bacterial Meningitis   4 studies
Balo Disease   1 study
Balo's Concentric Sclerosis   1 study
Bare Lymphocyte Syndrome   1 study
Barrett Syndrome   59 studies
Bartter's Syndrome   2 studies
Basal Cell Carcinoma, Multiple   3 studies
Basilar Artery Migraines   8 studies
Becker's Muscular Dystrophy   31 studies
Behcet Syndrome   12 studies
Bell's Palsy   5 studies
Benign Essential Blepharospasm   14 studies
Benign Essential Tremor Syndrome   27 studies
Benign Mucosal Pemphigoid   2 studies
Benign Paroxysmal Positional Vertigo   5 studies
Berger Disease   27 studies
Berylliosis   2 studies
Beta-galactosidase-1 Deficiency   3 studies
Beta-thalassemia   42 studies
Bile Duct Cancer, Extrahepatic   77 studies
Biliary Atresia   7 studies
Biliary Cirrhosis   20 studies
Biliary Tract Cancer   36 studies
Bipolar Disorder   469 studies
Birt-Hogg-Dube Syndrome   2 studies
Bladder Neoplasm   302 studies
Blastoma   2 studies
Blastomycosis   5 studies
Blepharospasm   13 studies
Bloom Syndrome   1 study
Bone Neoplasms   42 studies
Borreliosis   10 studies
Botulism   4 studies
Bourneville Syndrome   13 studies
Bowen's Disease   7 studies
Brain Stem Glioma, Childhood   94 studies
Brain Stem Neoplasms   5 studies
Brain Tumor, Childhood   57 studies
Breast Cancer, Male   209 studies
Broad Beta Disease   3 studies
Bronchopulmonary Dysplasia   45 studies
Brown-Sequard Syndrome   1 study
Brucellosis   6 studies
Brugada Syndrome   5 studies
Bruton Type Agammaglobulinemia   6 studies
Buerger's Disease   1 study
Bullous Pemphigoid   9 studies
Burkitt's Lymphoma   534 studies
Burning Mouth Syndrome   8 studies
Buruli Ulcer   1 study
Canavan Disease   3 studies
Carcinoid Syndrome   7 studies
Carcinoid Tumor   104 studies
Carcinoma, Squamous Cell   690 studies
Carcinoma, Squamous Cell of Head and Neck   165 studies
Cardiogenital Syndrome   1 study
Cardiospasm   11 studies
Carney Syndrome   2 studies
Carnitine Palmitoyl Transferase 2 Deficiency   1 study
Caroli Disease   1 study
Castleman's Disease   8 studies
Cataplexy   9 studies
Central Nervous System Lymphoma, Primary   168 studies
Central Serous Chorioretinopathy   12 studies
Centrotemporal Epilepsy   2 studies
Ceramide Trihexosidosis   45 studies
Cerebellar Ataxia   4 studies
Cerebellar Degeneration   1 study
Cerebral Aneurysm   8 studies
Cerebrospinal Fluid Leak   1 study
Cerebrotendinous Xanthomatosis   2 studies
Ceroid Lipofuscinosis, Neuronal 2   3 studies
Cervical Intraepithelial Neoplasia   73 studies
Chagas Disease   8 studies
Chalazion   1 study
Chandler's Syndrome   2 studies
Charcot Marie Tooth Disease   7 studies
Charcot-Marie-Tooth Disease With Pyramidal Features, Autosomal Dominant   1 study
Charcot-Marie-Tooth Disease, Type 1A   2 studies
Chediak-Higashi Syndrome   8 studies
Chikungunya   1 study
Childhood Disintegrative Disorder   2 studies
Childhood-Onset Schizophrenia   6 studies
Cholecystitis   19 studies
Cholera   21 studies
Cholestasis   29 studies
Chondrocalcinosis 2   1 study
Chondrosarcoma   45 studies
Chordoma   15 studies
Chorea Minor   2 studies
Choreoacanthocytosis   1 study
Choriocarcinoma   46 studies
Chorioretinitis   1 study
Choroid Plexus Neoplasms   77 studies
Choroideremia   1 study
Choroiditis   4 studies
Chromophil Renal Cell Carcinoma   14 studies
Chronic Berylliosis   2 studies
Chronic Granulomatous Disease   24 studies
Chronic Inflammatory Demyelinating Polyneuropathy   6 studies
Chronic Lymphocytic Leukemia   904 studies
Chronic Myelogenous Leukemia   712 studies
Chronic Myelomonocytic Leukemia   295 studies
Chronic Myeloproliferative Disorders   178 studies
Chronic Neutropenia   2 studies
Chronic, Infantile, Neurological, Cutaneous, Articular Syndrome   5 studies
Churg-Strauss Syndrome   12 studies
Chylothorax, Congenital   1 study
Cicatricial Pemphigoid   2 studies
Clear Cell Renal Cell Carcinoma   83 studies
Clostridium Difficile   36 studies
Cluster Headaches   13 studies
COACH Syndrome   1 study
Coal Worker's Pneumoconiosis   1 study
Coats Disease   2 studies
Coccidioidomycosis   10 studies
Cockayne's Syndrome   1 study
Cogan's Syndrome   1 study
Cold Agglutinin Disease   1 study
Collagenous Colitis   4 studies
Colorectal Cancer, Hereditary Nonpolyposis, Type 1   11 studies
Combined Hyperlipidemia, Familial   19 studies
Common Variable Immunodeficiency   13 studies
Compartment Syndrome   8 studies
Complete Atrioventricular Canal   3 studies
Conductive Hearing Loss   2 studies
Condyloma   8 studies
Condyloma Acuminatum   22 studies
Cone Rod Dystrophy   35 studies
Congenital Amegakaryocytic Thrombocytopenia   5 studies
Congenital Cardiovascular Malformations   1 study
Congenital Central Hypoventilation Syndrome   1 study
Congenital Cytomegalovirus   7 studies
Congenital Deafness   2 studies
Congenital Diaphragmatic Hernia   7 studies
Congenital Fiber Type Disproportion   1 study
Congenital Heart Block   3 studies
Congenital Heart Septum Defect   30 studies
Congenital Hemolytic Anemia   1 study
Congenital Hepatic Fibrosis   2 studies
Congenital Hypothyroidism   4 studies
Congenital Megacolon   3 studies
Congenital Torticollis   2 studies
Congenital Toxoplasmosis   1 study
Conn's Syndrome   8 studies
Conotruncal Anomaly Face Syndrome   15 studies
Conotruncal Heart Malformations   2 studies
Conversion Disorder   4 studies
Corneal Dystrophy   5 studies
Corneal Dystrophy Fuchs' Endothelial 1   6 studies
Corneal Dystrophy, Epithelial Basement Membrane   1 study
Coronary Artery Aneurysm   2 studies
Corticobasal Degeneration   1 study
Cowden's Disease   3 studies
Craniofrontonasal Dysplasia   1 study
Craniosynostosis   7 studies
Cretinism   4 studies
Creutzfeldt Jakob Disease   2 studies
Crigler Najjar Syndrome, Type 1   1 study
Crohn's Disease   269 studies
Crohn’s Disease, Pediatric   9 studies
Cryptococcosis   23 studies
Cryptosporidiosis   19 studies
Currarino Triad   1 study
Cutaneous Lupus Erythematosus   7 studies
Cutaneous T-cell Lymphoma   365 studies
Cutis Laxa   4 studies
Cutis Verticis Gyrata   8 studies
Cyclic Vomiting Syndrome   6 studies
Cystic Adenomatoid Malformation of Lung   2 studies
Cystic Fibrosis   286 studies
Cysticercosis   11 studies
Cystinosis   11 studies
Cystinuria   2 studies
Cystosarcoma Phyllodes   2 studies
Cytomegalic Inclusion Disease   132 studies
Cytomegalovirus   178 studies
Cytomegalovirus Retinitis   60 studies
Dancing Eyes-dancing Feet Syndrome   4 studies
Darier's Disease   3 studies
Degenerative Motor System Disease   38 studies
Demyelinating Diseases   10 studies
Dengue Fever   32 studies
Depersonalization Disorder   2 studies
Dermatofibroma   2 studies
Dermatofibrosarcoma Protuberans   16 studies
Dermatomyositis   25 studies
Desmoid Tumor   10 studies
Desmoplastic Small Round Cell Tumor   23 studies
Devic Disease   5 studies
Dextrocardia   3 studies
Di Guglielmo's Syndrome   128 studies
Diabetes Insipidus Primary Central   1 study
Diabetes Mellitus Type 1   483 studies
Diamond-Blackfan Anemia   19 studies
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma   1 study
Diffuse Systemic Sclerosis   9 studies
DiGeorge Syndrome   16 studies
Dihydropyrimidine Dehydrogenase Deficiency   6 studies
Dilated Cardiomyopathy   38 studies
Diphtheria   145 studies
Dominant Ichthyosis Vulgaris   1 study
Dopamine Beta Hydroxylase Deficiency   3 studies
Double Outlet Right Ventricle   1 study
Down Syndrome   36 studies
Dubin-Johnson Syndrome   1 study
Duchenne Muscular Dystrophy   32 studies
Dwarfism   17 studies
Dysferlinopathy   1 study
Dysgerminoma   7 studies
Dyskeratosis Congenita   4 studies
Dyskinesia, Drug Induced   4 studies
Dysplastic Nevus Syndrome   2 studies
Dystonia 12   1 study
Dystrophic Epidermolysis Bullosa   4 studies
Eales Disease   1 study
Ebola Virus Disease   2 studies
Ebstein's Anomaly   1 study
Eccentrochondrodysplasia   3 studies
Eclampsia   41 studies
Ectodermal Dysplasia   2 studies
Ectopic Pregnancy   6 studies
Edwards Syndrome   3 studies
Ehlers Danlos Syndrome Type 4, Autosomal Dominant   1 study
Ehlers-Danlos Syndrome   4 studies
Eisenmenger Syndrome   6 studies
Elective Mutism   2 studies
Encephalomyelitis   7 studies
Endocarditis   20 studies
Endocarditis, Infective   12 studies
Endocrinopathy   54 studies
Endometrial Cancer   229 studies
Endometrial Stromal Sarcoma   16 studies
Enlarged Vestibular Aqueduct Syndrome   1 study
Enteropathy-associated T-cell Lymphoma   3 studies
Eosinophilia-myalgia Syndrome   1 study
Eosinophilic Enteropathy   24 studies
Eosinophilic Fasciitis   1 study
Ependymoma   168 studies
Epidermoid Carcinoma   674 studies
Epidermolysis Bullosa   13 studies
Epidermolysis Bullosa Acquisita   1 study
Epidermolysis Bullosa, Junctional   1 study
Epilepsy Juvenile Absence   6 studies
Epileptic Encephalopathy, Lennox-Gastaut Type   8 studies
Epimerase Deficiency   2 studies
Episodic Ataxia Syndrome   1 study
Epithelioid Sarcoma   23 studies
Epstein Barr Virus, Chronic   4 studies
Erysipelas   3 studies
Erythroplakia   3 studies
Erythropoietic Protoporphyria   3 studies
Esophageal Atresia   1 study
Esophageal Cancer   369 studies
Esophageal Disorder   509 studies
Esophageal Varices   16 studies
Esotropia   6 studies
Essential Hypertension   178 studies
Essential Thrombocytosis   120 studies
Evans Syndrome   2 studies
Ewing's Family of Tumors   130 studies
Ewing's Sarcoma   135 studies
Exfoliative Dermatitis   3 studies
Exostoses   3 studies
Exostoses, Multiple   3 studies
Extracranial Germ Cell Tumor, Childhood   9 studies
Extragonadal Germ Cell Tumor   59 studies
Fabry Disease   45 studies
Facioscapulohumeral Muscular Dystrophy 1a   5 studies
Factor V Leiden Thrombophilia   5 studies
Fallopian Tube Cancer   247 studies
Fallot Tetralogy   17 studies
Familial Adenomatous Polyposis   20 studies
Familial Amyloid Polyneuropathy   3 studies
Familial Cold Autoinflammatory Syndrome   3 studies
Familial Colorectal Cancer   1 study
Familial Encephalopathy With Neuroserpin Inclusion Bodies   1 study
Familial Hyperchylomicronemia   1 study
Familial Hyperlipoproteinemia Type 1   1 study
Familial Mediterranean Fever   7 studies
Familial Polyposis   20 studies
Fanconi Renotubular Syndrome   8 studies
Fanconi's Anemia   33 studies
Felty's Syndrome   1 study
Fetal Alcohol Syndrome   10 studies
Fetal Edema   1 study
Fetal Macrosomia   3 studies
Fibromatosis   5 studies
Fibromyalgia   174 studies
Fibrosarcoma   46 studies
Fibrosing Alveolitis   3 studies
Fibrous Dysplasia   9 studies
Fibrous Dysplasia of Bone   9 studies
Filariasis   12 studies
Focal Dermal Hypoplasia   1 study
Focal Dystonia   21 studies
Focal Facial Dermal Dysplasia   1 study
Focal Segmental Glomerulosclerosis   23 studies
Follicular Lymphoma   742 studies
Fragile X Syndrome   13 studies
Fraser Syndrome   1 study
Friedreich Ataxia   12 studies
Frontotemporal Dementia   29 studies
Fryns Syndrome   1 study
Fucosidosis   4 studies
Galactorrhoea-Hyperprolactinaemia   8 studies
Galactose Epimerase Deficiency   2 studies
Galactosemia   2 studies
Gall Bladder Cancer   93 studies
Gastric Lymphoma   5 studies
Gastrointestinal Stromal Tumors   103 studies
Gastroschisis   3 studies
Gaucher Disease   36 studies
Gaucher Disease Type 1   6 studies
Gelatinous Ascites   4 studies
Gelineau's Syndrome   18 studies
Genital Dwarfism   34 studies
Geographic Tongue   3 studies
Gestational Trophoblastic Disease   69 studies
Gestational Trophoblastic Neoplasms   69 studies
Giant Cell Myocarditis   2 studies
Giardiasis   21 studies
Gitelman Syndrome   1 study
Glaucoma, Congenital   3 studies
Glioblastoma   494 studies
Glioblastoma Multiforme   256 studies
Glioma   515 studies
Gliosarcoma   335 studies
Glomerulonephritis   41 studies
Glucose 6 Phosphate Dehydrogenase Deficiency   8 studies
Glycogen Storage Disease Type 2   30 studies
Gonadal Dysgenesis   2 studies
Graft Versus Host Disease   287 studies
Granulocytopenia   3 studies
Granuloma Annulare   3 studies
Graves' Disease   15 studies
Gray Platelet Syndrome   2 studies
Great Vessels Transposition   9 studies
Growth Hormone Deficiency   87 studies
Guillain-Barre Syndrome   5 studies
Haemophilus Influenzae   96 studies
Hailey Hailey Disease   1 study
Hairy Cell Leukemia   160 studies
Hantavirosis   2 studies
Hantavirus Pulmonary Syndrome   1 study
Hashimoto's Syndrome   2 studies
Hawkinsinuria   2 studies
Heart Block Progressive, Familial   3 studies
Heart Tumor   1 study
Heavy Metal Poisoning   1 study
HELLP Syndrome   5 studies
Helminthiasis   22 studies
Hemangioblastoma   5 studies
Hemangiopericytoma   56 studies
Hemiplegia   34 studies
Hemochromatosis, Type 3   23 studies
Hemoglobin SC Disease   12 studies
Hemoglobinopathy   25 studies
Hemoglobinuria   28 studies
Hemolytic-uremic Syndrome   8 studies
Hemophagocytic Lymphohistiocytosis   9 studies
Hemophilia B   31 studies
Hemorrhagic Fever   24 studies
Hemorrhagic Thrombocythemia   120 studies
Hemosiderosis   13 studies
Henoch-Schonlein Purpura   4 studies
Heparin Induced Thrombocytopenia   22 studies
Hepatic Fibrosis   35 studies
Hepatic Venoocclusive Disease   8 studies
Hepatitis E   2 studies
Hepatoblastoma   16 studies
Hepatocellular Carcinoma   372 studies
Hepatocellular Carcinoma, Childhood   40 studies
Hepatorenal Syndrome   10 studies
Hereditary Angioedema   21 studies
Hereditary Ataxia   3 studies
Hereditary Deafness   2 studies
Hereditary Elliptocytosis   1 study
Hereditary Hemorrhagic Telangiectasia   15 studies
Hereditary Hyperuricemia   1 study
Hereditary Nonpolyposis Colon Cancer   17 studies
Hereditary Pancreatitis   3 studies
Hereditary Spastic Paraplegia   1 study
Hermansky-Pudlak Syndrome   7 studies
Herpes Simplex Encephalitis   1 study
Herpes Zoster Ophthalmicus   2 studies
Herpetic Keratitis   3 studies
Hip Dislocation   2 studies
Hip Dysplasia   20 studies
Hirschsprung's Disease   3 studies
Histiocytosis X   13 studies
Hodgkin Lymphoma, Adult   558 studies
Hodgkin Lymphoma, Childhood   203 studies
Hodgkin's Disease   670 studies
Hollow Visceral Myopathy   1 study
Holoprosencephaly   5 studies
Homocystinuria   2 studies
Homologous Wasting Disease   287 studies
Horton’s Disease   11 studies
Hunter-McAlpine Syndrome   8 studies
Huntington Disease   42 studies
Hutchinson Gilford Progeria Syndrome   4 studies
Hydatidiform Mole   9 studies
Hydatidosis   3 studies
Hydrocephalus   28 studies
Hydrops Fetalis   1 study
Hyper IgE   3 studies
Hyper IgM Syndrome   9 studies
Hyperacusis   3 studies
Hyperadrenalism   4 studies
Hyperaldosteronism   11 studies
Hyperammonemia   3 studies
Hyperandrogenism   11 studies
Hypercholesterolemia, Autosomal Dominant   39 studies
Hypercholesterolemia, Autosomal Dominant, Type B   1 study
Hyperchylomicronemia   1 study
Hypereosinophilic Syndrome   16 studies
Hyperhomocysteinemia   13 studies
Hyperinsulinemic Hypoglycemia, Familial, 1   3 studies
Hyperinsulinemic Hypoglycemia, Familial, 2   1 study
Hyperoxaluria   10 studies
Hyperparathyroidism, Primary   12 studies
Hyperpipecolatemia   1 study
Hyperprolactinemia   8 studies
Hypersensitivity Vasculitis   1 study
Hypoadrenalism   25 studies
Hypoaldosteronism   2 studies
Hypoalphalipoproteinemia, Primary   1 study
Hypokalemia   6 studies
Hypokalemic Periodic Paralysis   2 studies
Hypolipoproteinemia   4 studies
Hypomelanotic Disorder   2 studies
Hypoparathyroidism   16 studies
Hypopharyngeal Cancer   262 studies
Hypophosphatasia   3 studies
Hypophosphatemic Rickets   4 studies
Hypopituitarism   18 studies
Hypopituitary Dwarfism   86 studies
Hypoplastic Left Heart Syndrome   12 studies
I Cell Disease   3 studies
Ichthyosiform Erythroderma, Nonbullous Congenital   2 studies
Ichthyosis Linearis Circumflexa   1 study
Ichthyosis Vulgaris   1 study
Idiopathic Hypereosinophilic Syndrome   16 studies
Idiopathic Myopathy   23 studies
Idiopathic Pulmonary Fibrosis   61 studies
Idiopathic Pulmonary Hemosiderosis   1 study
Idiopathic Pulmonary Hypertension   124 studies
Immune Defect Due to Absence of Thymus   1 study
Immune Thrombocytopenia   5 studies
Immunoglobulin A Deficiency 1   1 study
Immunoglobulin G Deficiency   5 studies
Inborn Amino Acid Metabolism Disorder   4 studies
Infantile Spasms   5 studies
Infective Endocarditis   12 studies
Inflammatory Breast Cancer   67 studies
Inherited Bone Marrow Failure Syndromes   2 studies
Insulinoma   29 studies
Intestinal Pseudo-obstruction   1 study
Intrahepatic Cholangiocarcinoma   2 studies
Intraocular Melanoma   69 studies
Iridocyclitis   3 studies
Irritable Bowel Syndrome   125 studies
Japanese Encephalitis   23 studies
Job Syndrome   11 studies
Joubert Syndrome 1   2 studies
Juvenile Dermatomyositis   8 studies
Juvenile Myelomonocytic Leukemia   104 studies
Juvenile Neuronal Ceroid Lipofuscinosis   5 studies
Juvenile Osteoporosis   3 studies
Juvenile Pilocytic Astrocytoma   1 study
Kabuki Syndrome   1 study
Kaposi Sarcoma   101 studies
Kartagener Syndrome   10 studies
Kawasaki Syndrome   11 studies
Kennedy Disease   3 studies
Keratoconjunctivitis Sicca   20 studies
Keratoconus   27 studies
Keratomalacia   12 studies
Keratosis, Seborrheic   2 studies
Kidney Cancer   626 studies
Klatskin Tumor   2 studies
Klebsiella   8 studies
Klinefelter Syndrome   5 studies
Klippel Trenaunay Syndrome   2 studies
Krabbe Leukodystrophy   7 studies
Lafora Disease   1 study
Lambert-Eaton Myasthenic Syndrome   5 studies
Lamellar Ichthyosis   6 studies
Landouzy-Dejerine Muscular Dystrophy   5 studies
Langerhans Cell Histiocytosis   13 studies
Large Granular Lymphocyte Leukemia   84 studies
Laron-type Dwarfism   2 studies
Laryngeal Carcinoma   276 studies
Laryngeal Papillomatosis   1 study
Laryngomalacia   2 studies
Lassueur-Graham-Little Syndrome   1 study
LCHAD Deficiency   2 studies
Leber Miliary Aneurysm   2 studies
Leber Optic Atrophy   2 studies
Legionellosis   2 studies
Leiomyomatosis and Renal Cell Cancer, Hereditary   1 study
Leiomyosarcoma   90 studies
Leishmaniasis   58 studies
Lentigo Maligna Melanoma   5 studies
Leprosy   7 studies
Leptospirosis   1 study
Lesch Nyhan Syndrome   1 study
Letterer-Siwe Disease   13 studies
Leucocyte Adhesion Defect   1 study
Leukemia, B-cell, Chronic   896 studies
Leukemia, Mast-cell   29 studies
Leukemia, Myeloid   1263 studies
Leukemia, T-cell, Chronic   2 studies
Leukodystrophy   17 studies
Leukomalacia   12 studies
Leukoplakia   19 studies
Levator Syndrome   1 study
Lewy Body Dementia   14 studies
Li Fraumeni Syndrome   1 study
Lichen Planus Follicularis   1 study
Lichen Sclerosis Et Atrophicus   2 studies
Light Chain Disease   2 studies
Limb-girdle Muscular Dystrophy   6 studies
Limb-girdle Muscular Dystrophy Type 2A   2 studies
Limb-girdle Muscular Dystrophy, Type 2B   2 studies
Lip and Oral Cavity Cancer   84 studies
Lipodystrophy   74 studies
Liposarcoma   45 studies
Liver Neoplasms   370 studies
Lobar Atrophy of Brain   29 studies
Localized Scleroderma   4 studies
Loiasis   1 study
Long QT Syndrome   13 studies
Lou Gehrig's Disease   112 studies
Lowe Oculocerebrorenal Syndrome   2 studies
Lupus   210 studies
Lymphangioleiomyomatosis   12 studies
Lymphatic Filariasis   8 studies
Lymphoblastic Lymphoma   562 studies
Lymphocytic Colitis   3 studies
Lymphoma, AIDS-related   26 studies
Lymphoma, Large-cell   831 studies
Lymphoma, Large-cell, Immunoblastic   547 studies
Lymphoma, Small Cleaved-cell, Diffuse   1197 studies
Lymphoma, Small Cleaved-cell, Follicular   3 studies
Lymphomatoid Granulomatosis   136 studies
Lymphomatoid Papulosis   1 study
Lymphomatous Thyroiditis   2 studies
Macular Degeneration   302 studies
Malaria   350 studies
Malignant Astrocytoma   7 studies
Malignant Fibrous Histiocytoma   45 studies
Malignant Germ Cell Tumor   44 studies
Malignant Hyperthermia   1 study
Malignant Mesenchymal Tumor   604 studies
Malignant Mixed Mullerian Tumor   3 studies
Mansonelliasis   3 studies
Mantle Cell Lymphoma   638 studies
Marburg Hemorrhagic Fever   1 study
Marchiafava-Micheli Disease   23 studies
Marfan Syndrome   10 studies
Mast Cell Disease   23 studies
MAT Deficiency   1 study
McCune Albright Syndrome   11 studies
Measles   65 studies
Medulloblastoma   158 studies
Melanoma of the Choroid   55 studies
Melanoma, Familial   33 studies
MELAS Syndrome   3 studies
Membranoproliferative Glomerulonephritis (type 2)   1 study
Membranous Nephropathy, Idiopathic   15 studies
Meningocele   2 studies
Meningococcal Infection   80 studies
Meningococcemia   8 studies
Meningomyelocele   4 studies
Menkes Syndrome   2 studies
Mercury Poisoning   1 study
Merkel Cell Cancer   6 studies
Metabolic Disorder   117 studies
Metachromatic Leukodystrophy   10 studies
Metastatic Squamous Neck Cancer With Occult Primary   116 studies
Methylmalonic Acidemia   1 study
Mevalonic Aciduria   1 study
Microcephaly   2 studies
Microencephaly   2 studies
Microphthalmia   3 studies
Microscopic Polyangiitis   16 studies
Microsporidiosis   1 study
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome   2 studies
Mitochondrial Trifunctional Protein Deficiency   2 studies
Mixed Connective Tissue Disease   4 studies
Miyoshi Myopathy   2 studies
Mobius Syndrome   2 studies
Mondini Dysplasia   1 study
Monoclonal Gammopathy of Undetermined Significance   59 studies
Monosomy X   34 studies
Morquio Syndrome   3 studies
Motor Neuro-ophthalmic Disorders   1 study
Motor Neuron Disease   38 studies
Motor Neuropathy   6 studies
Moyamoya Disease 1   1 study
Muckle-Wells Syndrome   5 studies
Mucopolysaccharidosis I   18 studies
Mucopolysaccharidosis Type 6   4 studies
Mucopolysaccharidosis Type II   9 studies
Muenke Syndrome   1 study
Multicentric Castleman’s Disease   5 studies
Multifocal Choroiditis   2 studies
Multiple Hereditary Exostoses   3 studies
Multiple Myeloma   955 studies
Multiple Sclerosis   390 studies
Multiple System Atrophy   21 studies
Mumps   43 studies
Muscular Dystrophy   50 studies
Muscular Dystrophy, Duchenne and Becker Type   31 studies
Myalgic Encephalomyelitis   23 studies
Myasthenia Gravis   16 studies
Mycobacterium Avium Complex Infection   43 studies
Mycoplasmal Pneumonia   5 studies
Myelitis   11 studies
Myelodysplastic Myeloproliferative Disease   3 studies
Myelodysplastic Syndromes   819 studies
Myelofibrosis   256 studies
Myocarditis   6 studies
Myoclonus Epilepsy   7 studies
Myoglobinuria   1 study
Myopathy, Myotubular   1 study
Myopia, Severe   9 studies
Myositis, Inclusion Body   8 studies
Myotonia Atrophica   18 studies
Myotonia Congenita   1 study
Myotonic Dystrophy 1   18 studies
Myxoid Liposarcoma   1 study
Ménière's Disease   6 studies
Ménétrier Disease   1 study
Nail Patella Syndrome   1 study
Nasopharyngeal Carcinoma   255 studies
Necrotizing Enterocolitis   26 studies
Necrotizing Fasciitis   2 studies
Neisseria Meningitidis   51 studies
Neonatal Herpes   4 studies
Neonatal Ovarian Cyst   1 study
Neonatal Systemic Lupus Erythematosus   3 studies
Nephrocalcinosis   3 studies
Nephrogenic Diabetes Insipidus   2 studies
Nephrogenic Systemic Fibrosis   8 studies
Nephropathic Cystinosis   8 studies
Nerve Sheath Neoplasm   5 studies
Nesidioblastosis of Pancreas   3 studies
Netherton Syndrome   1 study
Neural Tube Defect, Folate-sensitive   7 studies
Neuroblastoma   267 studies
Neuroepithelioma   200 studies
Neurofibroma   23 studies
Neurofibromatosis Type 1   42 studies
Neurofibromatosis Type 2   8 studies
Neurosyphilis   1 study
Neurotoxicity Syndromes   60 studies
Nevi Flammei, Familial Multiple   14 studies
Nevoid Basal Cell Carcinoma Syndrome   7 studies
Niemann-Pick Disease   8 studies
Niemann-Pick Disease, Type C1   8 studies
Non-alcoholic Steatohepatitis (NASH)   73 studies
Non-Hodgkin Lymphoma, Childhood   8 studies
Non-small Cell Lung Cancer   1579 studies
Nondystrophic Myotonia   3 studies
Nonseminomatous Germ Cell Tumor   20 studies
Noonan Syndrome   2 studies
Obesity   1475 studies
Occipital Horn Syndrome   1 study
Ochronosis   2 studies
Ocular Cicatricial Pemphigoid   1 study
Ocular Melanoma   20 studies
Ocular Motility Disorders   3 studies
Oculocerebrorenal Syndrome   3 studies
Oculocutaneous Tyrosinemia   2 studies
Oculopharyngeal Muscular Dystrophy   2 studies
Oligodendroglioma   260 studies
Omenn Syndrome   2 studies
Onchocerciasis   4 studies
Oncogenic Osteomalacia   1 study
Opitz Syndrome   8 studies
Oppositional Defiant Disorder   18 studies
Optic Atrophy 1   1 study
Optic Nerve Disorder   21 studies
Optic Neuropathy, Anterior Ischemic   11 studies
Oral Cancer   103 studies
Oral Facial Digital Syndrome   1 study
Oral Facial Dyskinesia   16 studies
Oral Leukoplakia   12 studies
Oral Lichen Planus   11 studies
Oral Squamous Cell Carcinoma   5 studies
Orbital Lymphoma   1 study
Ornithine Aminotransferase Deficiency   2 studies
Ornithine Transcarbamylase Deficiency   5 studies
Oropharyngeal Cancer, Adult   4 studies
Orthostatic Intolerance   18 studies
Osteochondritis Dissecans   1 study
Osteochondromatosis   3 studies
Osteogenesis Imperfecta   13 studies
Osteogenic Sarcoma   142 studies
Osteomalacia   7 studies
Osteomyelitis   9 studies
Osteonecrosis   73 studies
Osteopetrosis   7 studies
Otosclerosis   2 studies
Ovarian Cancer   863 studies
Ovarian Carcinosarcoma   13 studies
Ovarian Dwarfism   34 studies
Ovarian Epithelial Cancer   541 studies
Ovarian Low Malignant Potential Tumor   2 studies
Oxalosis   6 studies
Paget Disease   20 studies
Pallister-Hall Syndrome   1 study
Palmoplantar Keratoderma   1 study
Palmoplantar Keratoderma, Epidermolytic   1 study
Pancreatic Islet Cell Tumors   39 studies
Panhypopituitarism   3 studies
Panuveitis   13 studies
Papillary Renal Cell Carcinoma   16 studies
Papilledema   3 studies
Papillitis   13 studies
Paraganglioma   9 studies
Parainfluenza Virus Type 3   5 studies
Paramyotonia Congenita   2 studies
Paraplegia   18 studies
Parapsoriasis   2 studies
Parkes Weber Syndrome   2 studies
Parkinson Disease   502 studies
Paroxysmal Nocturnal Hemoglobinuria   23 studies
Paroxysmal Ventricular Fibrillation   65 studies
Patau Syndrome   2 studies
Patent Ductus Arteriosus   19 studies
Pearson Syndrome   2 studies
Pediatric Ulcerative Colitis   2 studies
Pemphigus   15 studies
Pemphigus Vulgaris   8 studies
Pentalogy of Cantrell   2 studies
Peripheral Neuroectodermal Tumor   110 studies
Peripheral T-cell Lymphoma   38 studies
Periventricular Leukomalacia   11 studies
Peutz Jeghers Syndrome   4 studies
Peyronie Disease   2 studies
Phenylketonuria   22 studies
Pheochromocytoma   30 studies
Phosphate Diabetes   2 studies
Phosphoglycerate Kinase Deficiency   1 study
Photosensitive Epilepsy   5 studies
Phytanic Acid Oxidase Deficiency   2 studies
Pick Disease of the Brain   29 studies
Piebaldism   1 study
Pigment-dispersion Syndrome   3 studies
Pigmentary Retinopathy   35 studies
Pilomatrixoma   2 studies
Pinealoma   33 studies
Pityriasis Rubra Pilaris   1 study
Plague   4 studies
Plasma Cell Leukemia   3 studies
Plasmacytoma Anaplastic   68 studies
Pleuropulmonary Blastoma   2 studies
Pneumocystosis   45 studies
Pneumonia, Eosinophilic   1 study
Poliomyelitis   74 studies
Polyarteritis Nodosa   7 studies
Polyarthritis   5 studies
Polycystic Liver Disease   3 studies
Polycystic Ovarian Syndrome   104 studies
Polycythemia Vera   124 studies
Polydactyly   2 studies
Polymyositis   17 studies
Polyomavirus Infections   1 study
Porphyria   14 studies
Porphyria Cutanea Tarda   3 studies
Porphyria, Congenital Erythropoietic   14 studies
Portal Hypertension   38 studies
Portal Thrombosis   1 study
Portal Vein Thrombosis   1 study
Post Polio Syndrome   7 studies
Post-transplant Lymphoproliferative Disease   5 studies
Post-traumatic Epilepsy   2 studies
Postural Hypotension   29 studies
Postural Orthostatic Tachycardia Syndrome   14 studies
Poxviridae Disease   1 study
Prader-Willi Syndrome   14 studies
Precocious Puberty   17 studies
Preeclampsia   82 studies
Presbycusis   4 studies
Priapism   2 studies
Primary Agammaglobulinemia   4 studies
Primary Aldosteronism   8 studies
Primary Amyloidosis   21 studies
Primary Biliary Cirrhosis   20 studies
Primary Ciliary Dyskinesia   10 studies
Primary Effusion Lymphoma   17 studies
Primary Immunodeficiency Disorders   4 studies
Primary Progressive Aphasia   29 studies
Primary Sclerosing Cholangitis   10 studies
Prinzmetal's Variant Angina   3 studies
Proctitis   3 studies
Progressive Multifocal Leukoencephalopathy   8 studies
Progressive Spinal Muscular Atrophy   21 studies
Progressive Supranuclear Palsy   15 studies
Prolymphocytic Leukemia   125 studies
Propionic Acidemia   1 study
Prostate Cancer, Familial   1 study
Proteus Syndrome   1 study
Protoporphyria   3 studies
Prurigo Nodularis   3 studies
Pseudo-Turner Syndrome   2 studies
Pseudohermaphroditism   2 studies
Pseudohypoaldosteronism Type 1, Autosomal Recessive   1 study
Pseudohypoparathyroidism   4 studies
Pseudomyxoma Peritonei   4 studies
Pseudotumor Cerebri   18 studies
Pseudoxanthoma Elasticum   4 studies
Psoriasis   312 studies
Pterygium of the Conjunctiva   22 studies
Pulmonary Arteriovenous Malformation   5 studies
Pulmonary Edema of Mountaineers   6 studies
Pulmonary Valve Stenosis   3 studies
Pulmonary Veins Stenosis   4 studies
Pulmonary Veno-occlusive Disease   2 studies
Pulmonic Stenosis   5 studies
Pure Red Cell Aplasia   14 studies
Pyoderma Gangrenosum   3 studies
Pyropoikilocytosis   1 study
Pyrosis   61 studies
Q Fever   1 study
Rabies   17 studies
Rasmussen Encephalitis   2 studies
Rectal Cancer   622 studies
Rectal Neoplasm   618 studies
Recurrent Respiratory Papillomatosis   7 studies
Reflex Sympathetic Dystrophy Syndrome   9 studies
Refractory Anemia   188 studies
Refsum Disease   2 studies
Refsum Disease, Infantile Form   2 studies
Reiter's Syndrome   5 studies
Renal Artery Stenosis   18 studies
Renal Cancer   626 studies
Renal Osteodystrophy   14 studies
Respiratory Distress Syndrome, Infant   5 studies
Retinal Degeneration   15 studies
Retinitis Pigmentosa   35 studies
Retinitis Pigmentosa-deafness Syndrome   5 studies
Retinoblastoma   43 studies
Retinopathy of Prematurity   28 studies
Retinoschisis   2 studies
Retroperitoneal Fibrosis   1 study
Rett Syndrome   12 studies
Rhabdoid Tumor   40 studies
Rhabdomyosarcoma, Childhood   124 studies
Rhabdomyosarcoma, Embryonal   3 studies
Rheumatic Fever   3 studies
Richter Syndrome   5 studies
Rickets   19 studies
Rickettsial Disease   1 study
Rickettsiosis   1 study
Rod Myopathy   1 study
Roussy Levy Hereditary Areflexic Dystasia   7 studies
Rubella   44 studies
Salivary Gland Cancer, Adult   2 studies
Sandhoff Disease   6 studies
Sarcoidosis   53 studies
Sarcoidosis, Pulmonary   9 studies
Scheuermann Disease   1 study
Schistosomiasis   14 studies
Scleroderma   82 studies
Scleroderma, Diffuse   70 studies
Scott Syndrome   1 study
Secondary Pulmonary Hypertension   12 studies
Seminoma   40 studies
Senior Loken Syndrome   1 study
Sensorineural Hearing Loss   16 studies
Septo-optic Dysplasia   12 studies
Severe Acute Respiratory Syndrome   11 studies
Severe Combined Immunodeficiency   23 studies
Severe Combined Immunodeficiency, X-linked   5 studies
Severe Congenital Neutropenia   8 studies
Sezary Syndrome   321 studies
Sharp Syndrome   4 studies
Shigellosis   9 studies
Shwachman-Diamond Syndrome   5 studies
Shy-Drager Syndrome   4 studies
Sickle Cell Anemia   156 studies
Siderosis   2 studies
Silicosis   1 study
Single Ventricular Heart   16 studies
Sinus Cancer   4 studies
Sitosterolemia   10 studies
Situs Inversus Viscerum   4 studies
Sjogren Syndrome   36 studies
Skeletal Dysplasias   2 studies
Sly Syndrome   1 study
Small Non-cleaved Cell Lymphoma   227 studies
Smith-Magenis Syndrome   4 studies
Soft Tissue Sarcomas   604 studies
Spasmodic Dysphonia   9 studies
Spastic Dysphonia   9 studies
Spastic Paraparesis   9 studies
Spastic Paraplegia 3, Autosomal Dominant   1 study
Spastic Paraplegia Epilepsy Mental Retardation   34 studies
Spherocytosis   1 study
Sphingolipidosis   11 studies
Spielmeyer-Vogt Disease   5 studies
Spina Bifida   16 studies
Spinal Cord Neoplasm   34 studies
Spinal Muscular Atrophy   21 studies
Spinal Shock   1 study
Splenomegaly   5 studies
Spondylarthritis   20 studies
Spondylarthropathies   19 studies
Spondylitis   78 studies
Spongiform Encephalopathy   2 studies
Sporotrichosis   3 studies
Squamous Cell Carcinoma   674 studies
Status Epilepticus   11 studies
Stevens-Johnson Syndrome   4 studies
Stiff Person Syndrome   3 studies
Still's Disease   4 studies
Stomach Cancer   416 studies
Storage Pool Platelet Disease   3 studies
Streptococcal Group A Invasive Disease   1 study
Strongyloidiasis   3 studies
Sturge-Weber Syndrome   2 studies
Sudden Infant Death Syndrome   3 studies
Superior Vena Cava Syndrome   1 study
Sydenham's Chorea   2 studies
Syndrome of Inappropriate Antidiuretic Hormone   10 studies
Synovial Sarcoma   49 studies
Synovitis   16 studies
Syphilis   16 studies
Syringomyelia   3 studies
Systemic Mastocytosis   12 studies
T Cell Immunodeficiency Primary   1 study
T-Lymphocytopenia   2 studies
Takayasu Arteritis   4 studies
Tako-Tsubo Syndrome   1 study
Talipes Equinovarus   10 studies
Tangier Disease   1 study
Tardive Dyskinesia   16 studies
Tay Sachs Disease   8 studies
Temporal Arteritis   10 studies
Testicular Cancer   158 studies
Testotoxicosis   1 study
Tetanus   152 studies
Tetrahydrobiopterin Deficiencies   3 studies
Thalassemia   100 studies
Thalassemia Minor   42 studies
Thoracic Outlet Syndrome   1 study
Thrombasthenia   2 studies
Thrombasthenia of Glanzmann and Naegeli   2 studies
Thrombocytopathy   6 studies
Thrombocytopenic Purpura, Autoimmune   47 studies
Thrombotic Thrombocytopenic Purpura, Acquired   1 study
Thyroid Cancer, Anaplastic   24 studies
Thyroid Cancer, Follicular   34 studies
Thyroid Cancer, Medullary   46 studies
Thyroid Cancer, Papillary   40 studies
Thyrotropin Deficiency, Isolated   1 study
Tick-borne Encephalitis   16 studies
Tomaculous Neuropathy   7 studies
Tongue Neoplasm   1 study
Torulopsis   36 studies
Tourette Syndrome   49 studies
Toxic Epidermal Necrolysis   1 study
Toxocariasis   1 study
Tracheobronchomalacia   3 studies
Transitional Cell Carcinoma   152 studies
Transposition of Great Arteries   9 studies
Transverse Myelitis   5 studies
Trichothiodystrophy   1 study
Trichotillomania   10 studies
Tricuspid Atresia   4 studies
Trigeminal Neuralgia   7 studies
Tropical Spastic Paraparesis   10 studies
Tropical Sprue   2 studies
Tuberculosis   248 studies
Tuberculosis, Pulmonary   50 studies
Tuberculous Meningitis   1 study
Tuberous Sclerosis   13 studies
Tularemia   2 studies
Turner Syndrome   34 studies
Turner-like Syndrome   2 studies
Twin Twin Transfusion Syndrome   1 study
Tylosis   67 studies
Typhoid   12 studies
Typhoid Fever   12 studies
Typhus   2 studies
Tyrosine Transaminase Deficiency   2 studies
Tyrosinemia   2 studies
Urea Cycle Disorders   9 studies
Urethral Cancer   50 studies
Urinary Tract Neoplasm   9 studies
Urticaria Pigmentosa   3 studies
Usher Syndrome   5 studies
Usher Syndrome, Type 1   1 study
Uterine Sarcoma   92 studies
Uveal Melanoma   69 studies
VACTERL Association   1 study
Vaginal Cancer   49 studies
Varicella Zoster   21 studies
Vasopressin-resistant Diabetes Insipidus   2 studies
Velocardiofacial Syndrome   15 studies
Velopharyngeal Incompetence   1 study
Ventricular Septal Defects   17 studies
Vernal Keratoconjunctivitis   6 studies
Viral Hemorrhagic Fever   24 studies
Virus Associated Hemophagocytic Syndrome   2 studies
Vitamin D Resistant Rickets   6 studies
Vogt-Koyanagi-Harada Syndrome   1 study
Von Gierke Disease   8 studies
Von Hippel-Lindau Syndrome   16 studies
Von Willebrand Disease   25 studies
Von Willebrand Disease, Recessive Form   2 studies
Vulvar Cancer   50 studies
Vulvar Vestibulitis Syndrome   10 studies
WAGR Syndrome   1 study
Waldenstrom Macroglobulinemia   295 studies
Watermelon Stomach   1 study
Weber Syndrome   2 studies
Wegener's Granulomatosis   31 studies
Wells Syndrome   5 studies
Werdnig-Hoffmann Disease   5 studies
Werner's Syndrome   1 study
West Nile Encephalitis   4 studies
West Nile Virus   13 studies
West Syndrome   5 studies
Whooping Cough   134 studies
Williams Syndrome   4 studies
Wilms' Tumor   110 studies
Wilson Disease   4 studies
Wiskott Aldrich Syndrome   14 studies
Wolff-Parkinson-White Syndrome   2 studies
Wolman Disease   3 studies
X-linked Adrenal Hypoplasia Congenita   1 study
X-linked Adrenoleukodystrophy   14 studies
X-linked Agammaglobulinemia   6 studies
X-linked Lymphoproliferative Syndrome   4 studies
X-linked Mental Retardation and Macro-orchidism   13 studies
Xeroderma Pigmentosum   6 studies
Yellow Fever   8 studies
Zellweger Syndrome   2 studies
Zollinger-Ellison Syndrome   35 studies
Zygomycosis   2 studies
21-hydroxylase-deficient Congenital Adrenal Hyperplasia   5 studies
22q11.2 Deletion Syndrome   15 studies
5-Nucleotidase Syndrome   1 study
5q - Syndrome   1 study