Clinical Trials: Rare Diseases
- Aase syndrome 18 studies
- Abdominal aortic aneurysm 52 studies
- Abdominal obesity metabolic syndrome 95 studies
- Abetalipoproteinemia 2 studies
- Acanthocheilonemiasis 3 studies
- Acanthosis nigricans 2 studies
- Achalasia 9 studies
- Achondroplasia 1 study
- Acoustic neuroma 4 studies
- Acromegaly 61 studies
- ACTH deficiency 1 study
- Acute articular rheumatism 5 studies
- Acute disseminated encephalomyelitis 2 studies
- Acute erythroblastic leukemia 122 studies
- Acute idiopathic polyneuritis 5 studies
- Acute intermittent porphyria 3 studies
- Acute lymphoblastic leukemia, adult 414 studies
- Acute monoblastic leukemia 118 studies
- Acute mountain sickness 12 studies
- Acute myelocytic leukemia 895 studies
- Acute myelogenous leukemia 895 studies
- Acute myeloid leukemia, adult 528 studies
- Acute myelomonocytic leukemia 115 studies
- Acute promyelocytic leukemia 90 studies
- Acute respiratory distress syndrome 100 studies
- Addison's disease 15 studies
- Adenocarcinoma of lung 134 studies
- Adenoid cystic carcinoma 63 studies
- Adenomyosis 5 studies
- Adrenal gland hyperfunction 4 studies
- Adrenal gland hypofunction 37 studies
- Adrenal hyperplasia 16 studies
- Adrenal incidentaloma 1 study
- Adrenocortical carcinoma 29 studies
- Adult onset Still's disease 1 study
- Advanced sleep phase syndrome 1 study
- Afibrinogenemia 1 study
- African trypanosomiasis 3 studies
- Aggressive fibromatosis 9 studies
- Aggressive systemic mastocytosis 2 studies
- Aicardi syndrome 2 studies
- AIDS Dementia Complex 18 studies
- Alagille syndrome 3 studies
- Albers-Schonberg disease 6 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 22 studies
- Alpha-L-iduronidase deficiency 19 studies
- Alpha-Thalassemia 2 studies
- Alport syndrome 3 studies
- Alstrom syndrome 1 study
- Alveolar echinococcosis 2 studies
- Alveolar soft part sarcoma 24 studies
- Alzheimer disease type 2 2 studies
- Amaurosis congenita of Leber 4 studies
- Amaurosis congenita of Leber, type 2 1 study
- Amebiasis 4 studies
- Amyloid angiopathy 1 study
- Amyloid Neuropathies 2 studies
- Amyotrophic lateral sclerosis 92 studies
- Anal cancer 51 studies
- Anaplastic large cell lymphoma 237 studies
- Ancylostoma duodenale 8 studies
- Andersen Tawil syndrome 1 study
- Androgenetic alopecia 7 studies
- Anemia, hereditary spherocytic hemolytic 1 study
- Anencephaly 4 studies
- Aneuploidy 10 studies
- Angelman syndrome 3 studies
- Angiofollicular lymph hyperplasia 7 studies
- Anguillulosis 3 studies
- Aniridia 6 studies
- Anodontia 2 studies
- Anthrax 15 studies
- Antiphospholipid syndrome 11 studies
- Antisocial personality disorder 5 studies
- Aortic coarctation 7 studies
- Aortic valve stenosis 74 studies
- Aphthous stomatitis 8 studies
- Aplastic anemia 116 studies
- Apparent mineralocorticoid excess 2 studies
- Apraxia 6 studies
- Arachnoiditis 2 studies
- Argininosuccinate synthetase deficiency 2 studies
- Argininosuccinic aciduria 1 study
- Arima syndrome 1 study
- Arnold-Chiari malformation 13 studies
- Arrhythmogenic right ventricular dysplasia 3 studies
- Asbestosis 1 study
- Aspartylglycosaminuria 1 study
- Aspergillosis 45 studies
- Asphyxia neonatorum 11 studies
- Asthenia 68 studies
- Astrocytoma 584 studies
- Ataxia-Telangiectasia 32 studies
- Atrioventricular septal defect 1 study
- Atypical mole syndrome 3 studies
- Auditory perceptual disorder 4 studies
- Autoimmune enteropathy 1 study
- Autoimmune hemolytic anemia 6 studies
- Autoimmune hepatitis 5 studies
- Autoimmune lymphoproliferative syndrome 7 studies
- Autosomal dominant partial epilepsy with auditory features 1 study
- B-cell lymphomas 777 studies
- Bacterial endocarditis 11 studies
- Bacterial meningitis 3 studies
- Balo disease 1 study
- Balo's concentric sclerosis 1 study
- Bare lymphocyte syndrome 1 study
- Bartter's syndrome 1 study
- Basal cell carcinoma, multiple 3 studies
- Basilar artery migraines 8 studies
- Becker's muscular dystrophy 25 studies
- Behcet syndrome 10 studies
- Bell's palsy 5 studies
- Benign essential blepharospasm 12 studies
- Benign essential tremor syndrome 25 studies
- Benign mucosal pemphigoid 2 studies
- Benign paroxysmal positional vertigo 4 studies
- Berger disease 21 studies
- Berylliosis 2 studies
- Beta-galactosidase-1 deficiency 3 studies
- Beta-thalassemia 35 studies
- Bile duct cancer, extrahepatic 71 studies
- Biliary atresia 7 studies
- Biliary cirrhosis 18 studies
- Biliary tract cancer 33 studies
- Birt-Hogg-Dube syndrome 2 studies
- Bladder neoplasm 273 studies
- Blastoma 1 study
- Blastomycosis 4 studies
- Blepharospasm 12 studies
- Bloom syndrome 1 study
- Bone Marrow failure syndromes 8 studies
- Bone neoplasms 61 studies
- Borreliosis 11 studies
- Botulism 4 studies
- Bourneville syndrome 10 studies
- Bowen's disease 7 studies
- Brain Stem neoplasms 5 studies
- Broad beta disease 3 studies
- Bronchopulmonary dysplasia 42 studies
- Brown-Sequard syndrome 1 study
- Brucellosis 8 studies
- Brugada syndrome 4 studies
- Bruton type agammaglobulinemia 6 studies
- Buerger's disease 1 study
- Bullous pemphigoid 7 studies
- Burkitt's lymphoma 510 studies
- Burning mouth syndrome 6 studies
- Buruli ulcer 1 study
- Canavan disease 3 studies
- Carcinoid syndrome 33 studies
- Carcinoid tumor 92 studies
- Carcinoma, squamous cell 650 studies
- Carcinoma, squamous cell of head and neck 152 studies
- Cardiogenital syndrome 1 study
- Cardiospasm 9 studies
- Carney syndrome 2 studies
- Carnitine palmitoyl transferase 2 deficiency 1 study
- Caroli disease 1 study
- Cataplexy 9 studies
- Central nervous system lymphoma, primary 163 studies
- Central serous chorioretinopathy 6 studies
- Centrotemporal epilepsy 4 studies
- Ceramide trihexosidosis 42 studies
- Cerebellar ataxia 11 studies
- Cerebellar degeneration 1 study
- Cerebral aneurysm 6 studies
- Cerebrospinal fluid leak 1 study
- Cerebrotendinous xanthomatosis 2 studies
- Ceroid lipofuscinosis, neuronal 5 studies
- Ceroid lipofuscinosis, neuronal 3, Juvenile 5 studies
- Cervical intraepithelial neoplasia 68 studies
- Chagas disease 9 studies
- Chalazion 1 study
- Chandler's syndrome 1 study
- Charcot Marie Tooth disease 36 studies
- Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant 1 study
- Chediak-Higashi syndrome 8 studies
- Chicken pox 68 studies
- Chikungunya 1 study
- Childhood disintegrative disorder 2 studies
- Childhood-Onset Schizophrenia 6 studies
- Cholecystitis 18 studies
- Cholera 20 studies
- Cholestasis 44 studies
- Chondrocalcinosis 2 1 study
- Chondrosarcoma 42 studies
- Chordoma 13 studies
- Chorea minor 2 studies
- Choreoacanthocytosis 1 study
- Choriocarcinoma 45 studies
- Chorioretinitis 1 study
- Choroid Plexus neoplasms 73 studies
- Choroideremia 1 study
- Choroiditis 5 studies
- Chromophil renal cell carcinoma 13 studies
- Chromosomal abnormalities 136 studies
- Chronic berylliosis 2 studies
- Chronic granulomatous disease 22 studies
- Chronic inflammatory demyelinating polyneuropathy 4 studies
- Chronic lymphocytic leukemia 591 studies
- Chronic myelogenous leukemia 663 studies
- Chronic myelomonocytic leukemia 284 studies
- Chronic Myeloproliferative Disorders 167 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 77 studies
- COACH syndrome 1 study
- Coal worker's pneumoconiosis 4 studies
- Coats disease 2 studies
- Coccidioidomycosis 8 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 10 studies
- Combined hyperlipidemia, familial 19 studies
- Common variable immunodeficiency 13 studies
- Compartment syndrome 6 studies
- Complete atrioventricular canal 3 studies
- Conductive hearing loss 2 studies
- Condyloma 20 studies
- Condyloma acuminatum 20 studies
- Cone rod dystrophy 32 studies
- Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 5 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 6 studies
- Congenital fiber type disproportion 1 study
- Congenital heart block 3 studies
- Congenital heart septum defect 35 studies
- Congenital hemolytic anemia 1 study
- Congenital hepatic fibrosis 2 studies
- Congenital hypothyroidism 4 studies
- Congenital megacolon 3 studies
- Congenital myopathy 2 studies
- Congenital torticollis 1 study
- Conn's syndrome 8 studies
- Conotruncal heart malformations 2 studies
- Conversion disorder 4 studies
- Corneal dystrophy 10 studies
- Corneal dystrophy, epithelial basement membrane 1 study
- Corneal dystrophy, Fuchs' endothelial, 1 5 studies
- Coronary artery aneurysm 2 studies
- Corticobasal degeneration 1 study
- Cowden's disease 3 studies
- Craniofrontonasal dysplasia 1 study
- Craniosynostosis 6 studies
- Cretinism 4 studies
- Creutzfeldt Jakob disease 2 studies
- Crigler Najjar syndrome, type 1 1 study
- Crohn’s disease, pediatric 8 studies
- Cryptococcosis 26 studies
- Cryptosporidiosis 19 studies
- Cutaneous lupus erythematosus 14 studies
- Cutaneous T-cell lymphoma 337 studies
- Cutis laxa 2 studies
- Cutis verticis gyrata 8 studies
- Cyclic vomiting syndrome 6 studies
- Cystic adenomatoid malformation of lung 2 studies
- Cystic fibrosis 244 studies
- Cysticercosis 11 studies
- Cystinosis 9 studies
- Cystinuria 2 studies
- Cystosarcoma phyllodes 2 studies
- Cytomegalic inclusion disease 166 studies
- Cytomegalovirus 173 studies
- Cytomegalovirus retinitis 60 studies
- Dancing eyes-dancing feet syndrome 3 studies
- Darier's disease 3 studies
- Degenerative motor system disease 152 studies
- Demyelinating diseases 380 studies
- Dengue fever 25 studies
- Depersonalization disorder 2 studies
- Dermatofibroma 2 studies
- Dermatofibrosarcoma protuberans 16 studies
- Dermatomyositis 23 studies
- Desmoid tumor 9 studies
- Desmoplastic small round cell tumor 22 studies
- Devic disease 4 studies
- Dextrocardia 9 studies
- Di Guglielmo's syndrome 122 studies
- Diabetes insipidus primary central 1 study
- Diamond Blackfan anemia 18 studies
- Diaphyseal medullary stenosis with malignant fibrous histiocytoma 1 study
- Diffuse systemic sclerosis 9 studies
- DiGeorge syndrome 14 studies
- Dihydropyrimidine dehydrogenase deficiency 5 studies
- Dilated cardiomyopathy 34 studies
- Dilutional hyponatremia 8 studies
- Diphtheria 123 studies
- Dominant ichthyosis vulgaris 1 study
- Dopamine beta hydroxylase deficiency 2 studies
- Double outlet right ventricle 1 study
- Duchenne muscular dystrophy 26 studies
- Dupuytren's contracture 11 studies
- Dwarfism 24 studies
- Dysferlinopathy 1 study
- Dysgerminoma 7 studies
- Dyskeratosis congenita 4 studies
- Dyskinesia, drug induced 4 studies
- Dysplastic nevus syndrome 3 studies
- Dystonia 12 1 study
- Dystrophia myotonica 1 15 studies
- Dystrophic epidermolysis bullosa 3 studies
- Eales disease 1 study
- Ebola virus disease 2 studies
- Ebstein's anomaly 1 study
- Eccentrochondrodysplasia 1 study
- Eclampsia 70 studies
- Ectodermal dysplasia 6 studies
- Ectopic pregnancy 5 studies
- Edwards syndrome 1 study
- Ehlers Danlos syndrome type 4, autosomal dominant 1 study
- Ehlers-Danlos syndrome 4 studies
- Eisenmenger syndrome 6 studies
- Ekbom syndrome 67 studies
- Elective mutism 2 studies
- Embryonal sarcoma 2 studies
- Encephalomyelitis 23 studies
- Endocarditis 18 studies
- Endocarditis, infective 11 studies
- Endocrinopathy 4657 studies
- Endometrial cancer 209 studies
- Endometrial stromal sarcoma 15 studies
- Enlarged vestibular aqueduct syndrome 1 study
- Enteropathy-associated T-cell lymphoma 1 study
- Eosinophilia-myalgia syndrome 1 study
- Eosinophilic enteropathy 22 studies
- Eosinophilic fasciitis 1 study
- Ependymoma 158 studies
- Epidermoid carcinoma 634 studies
- Epidermolysis bullosa 11 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 22 studies
- Erysipelas 2 studies
- Erythroplakia 3 studies
- Erythropoietic protoporphyria 3 studies
- Esophageal atresia 1 study
- Esophageal disorder 725 studies
- Esophageal neoplasm 341 studies
- Esophageal varices 14 studies
- Esotropia 8 studies
- Essential hypertension 158 studies
- Essential thrombocytosis 114 studies
- Ewing's family of tumors 124 studies
- Ewing's sarcoma 129 studies
- Exfoliative dermatitis 4 studies
- Exostoses 3 studies
- Exostoses, multiple 3 studies
- Extragonadal Germ Cell Tumor 57 studies
- Fabry disease 42 studies
- Facioscapulohumeral muscular dystrophy 1a 4 studies
- Factor V Leiden thrombophilia 4 studies
- Fallopian tube cancer 222 studies
- Fallot tetralogy 15 studies
- Familial adenomatous polyposis 17 studies
- Familial amyloid polyneuropathy 2 studies
- Familial cold autoinflammatory syndrome 3 studies
- Familial Colorectal Cancer 1 study
- Familial encephalopathy with neuroserpin inclusion bodies 1 study
- Familial Mediterranean fever 8 studies
- Familial polyposis 17 studies
- Fanconi renotubular syndrome 7 studies
- Fanconi's anemia 31 studies
- Felty's Syndrome 1 study
- Fetal alcohol syndrome 10 studies
- Fetal edema 1 study
- Fetal macrosomia 2 studies
- Fibromatosis 8 studies
- Fibrosarcoma 50 studies
- Fibrosing alveolitis 57 studies
- Fibrous dysplasia 11 studies
- Fibrous dysplasia of bone 11 studies
- Filariasis 15 studies
- Focal dermal hypoplasia 1 study
- Focal dystonia 21 studies
- Focal facial dermal dysplasia 1 study
- Focal segmental glomerulosclerosis 17 studies
- Follicular lymphoma 690 studies
- Fragile X syndrome 8 studies
- Fraser syndrome 1 study
- Friedreich ataxia 9 studies
- Frontotemporal dementia 26 studies
- Fryns syndrome 1 study
- Fucosidosis 4 studies
- Galactorrhoea-Hyperprolactinaemia 6 studies
- Galactose epimerase deficiency 2 studies
- Galactosemia 2 studies
- Gall bladder cancer 87 studies
- Gangliosidosis (GM2) Type1 2 studies
- Gastric lymphoma 5 studies
- Gastritis, familial giant hypertrophic 1 study
- Gastrointestinal Stromal Tumors 94 studies
- Gastroschisis 3 studies
- Gaucher Disease 32 studies
- Gaucher disease type 1 4 studies
- Gelatinous ascites 4 studies
- Gelineau's syndrome 18 studies
- Genital dwarfism 30 studies
- Geographic tongue 3 studies
- Gestational trophoblastic disease 62 studies
- Gestational Trophoblastic Neoplasms 62 studies
- Giant cell myocarditis 2 studies
- Giant hypertrophic gastritis 1 study
- Gilles de la Tourette's syndrome 48 studies
- Glaucoma, congenital 3 studies
- Glioblastoma 464 studies
- Glioblastoma multiforme 242 studies
- Glioma 717 studies
- Gliosarcoma 321 studies
- Glomerulonephritis 92 studies
- Glucose 6 phosphate dehydrogenase deficiency 8 studies
- Glycogen storage disease type 2 29 studies
- Gonadal dysgenesis 28 studies
- Graft versus host disease 260 studies
- Granulocytopenia 95 studies
- Granuloma annulare 3 studies
- Graves' disease 19 studies
- Gray platelet syndrome 2 studies
- Great vessels transposition 9 studies
- Growth hormone deficiency 81 studies
- Guillain-Barre syndrome 5 studies
- Haemophilus influenzae 80 studies
- Hailey Hailey disease 1 study
- Hairy cell leukemia 145 studies
- Hamman-Rich syndrome 57 studies
- Hantavirosis 1 study
- Hantavirus pulmonary syndrome 1 study
- Hashimoto's syndrome 2 studies
- Heart block progressive, familial 3 studies
- Heart tumor 1 study
- HELLP syndrome 5 studies
- Helminthiasis 60 studies
- Hemangioblastoma 5 studies
- Hemangiopericytoma 53 studies
- Hemiplegia 32 studies
- Hemochromatosis, type 3 22 studies
- Hemoglobin SC disease 11 studies
- Hemoglobinopathy 202 studies
- Hemoglobinuria 25 studies
- Hemolytic-uremic syndrome 4 studies
- Hemophagocytic lymphohistiocytosis 9 studies
- Hemophilia B 26 studies
- Hemorrhagic fever 29 studies
- Hemorrhagic thrombocythemia 114 studies
- Hemosiderosis 13 studies
- Henoch-Schonlein purpura 4 studies
- Heparin-induced thrombocytopenia 19 studies
- Hepatic fibrosis 30 studies
- Hepatic venoocclusive disease 7 studies
- Hepatitis E 2 studies
- Hepatoblastoma 15 studies
- Hepatocellular carcinoma 474 studies
- Hepatorenal syndrome 10 studies
- Hereditary angioedema 20 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 5 studies
- Herpes simplex encephalitis 1 study
- Herpes zoster ophthalmicus 2 studies
- Herpetic keratitis 3 studies
- Hidradenitis suppurativa 7 studies
- Hip dislocation 8 studies
- Hip Dysplasia 4 studies
- Hirschsprung's disease 3 studies
- Histiocytosis X 13 studies
- Hodgkin lymphoma, adult 570 studies
- Hodgkin lymphoma, childhood 190 studies
- Hodgkin's disease 618 studies
- Holoprosencephaly 5 studies
- Homocystinuria 2 studies
- Homologous wasting disease 260 studies
- Horton’s disease 11 studies
- Hunter syndrome 7 studies
- Hunter-McAlpine syndrome 6 studies
- Huntington disease 35 studies
- Hurler syndrome 15 studies
- Hutchinson Gilford progeria syndrome 3 studies
- Hydatidosis 3 studies
- Hydrocephalus 22 studies
- Hydrops fetalis 1 study
- Hyper IgE 3 studies
- Hyper IgM syndrome 9 studies
- Hyperacusis 3 studies
- Hyperadrenalism 4 studies
- Hyperaldosteronism 13 studies
- Hyperammonemia 2 studies
- Hyperandrogenism 11 studies
- Hypercholesterolemia, autosomal dominant 38 studies
- Hypercholesterolemia, autosomal dominant, type B 1 study
- Hypereosinophilic syndrome 16 studies
- Hyperhomocysteinemia 12 studies
- Hyperinsulinemic hypoglycemia, familial, 1 2 studies
- Hyperinsulinemic hypoglycemia, familial, 2 1 study
- Hyperoxaluria 11 studies
- Hyperparathyroidism, primary 11 studies
- Hyperpipecolatemia 1 study
- Hyperprolactinemia 6 studies
- Hypoadrenalism 37 studies
- Hypoaldosteronism 2 studies
- Hypoalphalipoproteinemia, primary 1 study
- Hypokalemia 5 studies
- Hypokalemic periodic paralysis 2 studies
- Hypolipoproteinemia 8 studies
- Hypoparathyroidism 22 studies
- Hypopharyngeal cancer 247 studies
- Hypophosphatasia 2 studies
- Hypophosphatemic rickets 3 studies
- Hypopituitarism 25 studies
- Hypopituitary dwarfism 2 studies
- Hypoplastic left heart syndrome 12 studies
- I cell disease 3 studies
- Ichthyosiform erythroderma, nonbullous congenital 3 studies
- Ichthyosis linearis circumflexa 1 study
- Ichthyosis vulgaris 1 study
- Idiopathic hypereosinophilic syndrome 16 studies
- Idiopathic hypertrophic subaortic stenosis (IHSS) 2 studies
- Idiopathic myopathy 32 studies
- Idiopathic pulmonary hemosiderosis 1 study
- Idiopathic pulmonary hypertension 103 studies
- Immune defect due to absence of thymus 1 study
- Immune thrombocytopenia 5 studies
- Immunoglobulin a deficiency 1 1 study
- Inborn amino acid metabolism disorder 47 studies
- Infantile spasms 5 studies
- Infective endocarditis 11 studies
- Inflammatory breast cancer 63 studies
- Insulinoma 29 studies
- Intraocular melanoma 64 studies
- Iridocyclitis 3 studies
- Japanese encephalitis 22 studies
- Job syndrome 11 studies
- Joubert syndrome 1 1 study
- Juvenile dermatomyositis 7 studies
- Juvenile myelomonocytic leukemia 96 studies
- Juvenile osteoporosis 3 studies
- Kabuki syndrome 1 study
- Kaposi sarcoma 97 studies
- Kartagener syndrome 8 studies
- Kawasaki syndrome 9 studies
- Kennedy disease 2 studies
- Keratoconjunctivitis sicca 15 studies
- Keratoconus 18 studies
- Keratomalacia 12 studies
- Keratosis follicularis spinulosa decalvans 9 studies
- Keratosis palmoplantaris with corneal dystrophy 2 studies
- Keratosis, seborrheic 2 studies
- Kidney cancer 632 studies
- Klatskin tumor 1 study
- Klebsiella 9 studies
- Klinefelter syndrome 4 studies
- Klippel Trenaunay Weber syndrome 2 studies
- Krabbe leukodystrophy 6 studies
- Lafora disease 1 study
- Lambert-Eaton Myasthenic Syndrome 3 studies
- Lamellar ichthyosis 9 studies
- Landouzy-Dejerine muscular dystrophy 4 studies
- Langerhans cell histiocytosis 13 studies
- Large granular lymphocyte leukemia 80 studies
- Laron-type dwarfism 2 studies
- Laryngeal carcinoma 271 studies
- Laryngeal papillomatosis 1 study
- Laryngomalacia 2 studies
- Lassueur-Graham-Little syndrome 1 study
- LCHAD deficiency 1 study
- Leber miliary aneurysm 2 studies
- Leber optic atrophy 2 studies
- Legionellosis 2 studies
- Leiomyomatosis and renal cell cancer, hereditary 1 study
- Leiomyosarcoma 86 studies
- Leishmaniasis 53 studies
- Lentigo maligna melanoma 4 studies
- Leprosy 5 studies
- Leptospirosis 1 study
- Lesch Nyhan syndrome 1 study
- Letterer-Siwe disease 13 studies
- Leucocyte adhesion defect 1 study
- Leukemia, B-cell, chronic 533 studies
- Leukemia, mast-cell 23 studies
- Leukemia, Myeloid 1187 studies
- Leukemia, T-cell, chronic 1 study
- Leukocytoclastic angiitis 1 study
- Leukodystrophy 16 studies
- Leukomalacia 12 studies
- Leukoplakia 19 studies
- Levator syndrome 1 study
- Lewy body dementia 10 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 4 studies
- Limb-Girdle muscular dystrophy type 2A 2 studies
- Lip and oral cavity cancer 79 studies
- Lipodystrophy 73 studies
- Liposarcoma 45 studies
- Liver neoplasms 470 studies
- Lobar atrophy of brain 26 studies
- Localized scleroderma 2 studies
- Loiasis 1 study
- Lou Gehrig's disease 92 studies
- Lowe oculocerebrorenal syndrome 2 studies
- Lymphangioleiomyomatosis 10 studies
- Lymphatic filariasis 8 studies
- Lymphoblastic lymphoma 530 studies
- Lymphocytic colitis 3 studies
- Lymphoma, AIDS-related 24 studies
- Lymphoma, large-cell 777 studies
- Lymphoma, large-cell, immunoblastic 525 studies
- Lymphoma, small cleaved-cell, diffuse 1117 studies
- Lymphoma, small cleaved-cell, follicular 3 studies
- Lymphomatoid granulomatosis 115 studies
- Lymphomatoid papulosis 1 study
- Lymphomatous thyroiditis 2 studies
- Malaria 319 studies
- Malignant astrocytoma 7 studies
- Malignant fibrous histiocytoma 41 studies
- Malignant germ cell tumor 42 studies
- Malignant hyperthermia 1 study
- Malignant mesenchymal tumor 612 studies
- Malignant mixed Mullerian tumor 4 studies
- Mansonelliasis 3 studies
- Mantle cell lymphoma 593 studies
- Marburg hemorrhagic fever 1 study
- Marchiafava-Micheli disease 20 studies
- Marfan syndrome 9 studies
- Mast cell disease 21 studies
- MAT deficiency 1 study
- McCune Albright syndrome 11 studies
- Measles 59 studies
- Medulloblastoma 146 studies
- Melanoma of the choroid 54 studies
- Melanoma, familial 29 studies
- MELAS syndrome 2 studies
- Membranoproliferative glomerulonephritis (type 2) 1 study
- Membranous nephropathy, idiopathic 7 studies
- Meningocele 3 studies
- Meningococcal infection 86 studies
- Meningococcemia 3 studies
- Meningomyelocele 4 studies
- Menkes syndrome 1 study
- Mercury poisoning 1 study
- Merkel cell cancer 6 studies
- Metabolic disorder 4048 studies
- Metachromatic leukodystrophy 10 studies
- Metastatic squamous neck cancer with occult primary 110 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 trifunctional protein deficiency 1 study
- Mixed connective tissue disease 4 studies
- Miyoshi myopathy 1 study
- Mondini Dysplasia 1 study
- Monoclonal gammopathy of undetermined significance 59 studies
- Monosomy X 30 studies
- Morquio syndrome 1 study
- Motor neuro-ophthalmic disorders 42 studies
- Motor neuron disease 152 studies
- Motor neuropathy 6 studies
- Moyamoya disease 1 1 study
- Muckle-Wells syndrome 5 studies
- Mucopolysaccharidosis 29 studies
- Mucopolysaccharidosis type 6 4 studies
- Muenke Syndrome 1 study
- Multi-centric Castleman’s Disease 5 studies
- Multifocal choroiditis 2 studies
- Multiple hereditary exostoses 3 studies
- Multiple myeloma 864 studies
- Multiple system atrophy 23 studies
- Multiple system atrophy (MSA) with orthostatic hypotension 7 studies
- Mumps 40 studies
- Muscular dystrophy 47 studies
- Muscular dystrophy, Duchenne and Becker type 25 studies
- Myalgic encephalomyelitis 19 studies
- Myasthenia gravis 14 studies
- Mycobacterium avium complex infection 44 studies
- Mycoplasmal pneumonia 5 studies
- Myelitis 56 studies
- Myelodysplasia 757 studies
- Myelodysplastic myeloproliferative disease 217 studies
- Myelodysplastic syndromes 757 studies
- Myelofibrosis 235 studies
- Myelofibrosis-osteosclerosis 27 studies
- Myocarditis 6 studies
- Myoclonus epilepsy 8 studies
- Myoglobinuria 1 study
- Myopathy, myotubular 1 study
- Myopia, severe 9 studies
- Myositis, inclusion body 7 studies
- Myotonia atrophica 15 studies
- Myxoid liposarcoma 1 study
- Nail Patella syndrome 1 study
- Narcolepsy 18 studies
- Nasopharyngeal carcinoma 232 studies
- Necrotizing enterocolitis 22 studies
- Necrotizing fasciitis 2 studies
- Neisseria meningitidis 44 studies
- Neonatal herpes 4 studies
- Neonatal ovarian cyst 1 study
- Neonatal Systemic lupus erythematosus 3 studies
- Nephrocalcinosis 2 studies
- Nephrogenic diabetes insipidus 2 studies
- Nephrogenic Fibrosing Dermopathy 4 studies
- Nephropathic cystinosis 7 studies
- Nerve sheath neoplasm 4 studies
- Nesidioblastosis of pancreas 2 studies
- Netherton syndrome 1 study
- Neural tube defect, folate-sensitive 49 studies
- Neuroblastoma 244 studies
- Neuroepithelioma 1859 studies
- Neurofibroma 37 studies
- Neurofibromatosis type 1 30 studies
- Neurofibromatosis type 2 7 studies
- Neurosyphilis 1 study
- Neurotoxicity syndromes 64 studies
- Nevi flammei, familial multiple 11 studies
- Nevoid basal cell carcinoma syndrome 7 studies
- Niemann-Pick Disease 8 studies
- Niemann-Pick disease, type C1 8 studies
- Non-alcoholic steatohepatitis (NASH) 54 studies
- Non-small cell lung cancer 1411 studies
- Nondystrophic myotonia 2 studies
- Nonseminomatous germ cell tumor 19 studies
- Nonsyndromic hereditary hearing impairment 2 studies
- Noonan syndrome 2 studies
- Ochronosis 2 studies
- Ocular cicatricial pemphigoid 1 study
- Ocular melanoma 20 studies
- Ocular motility disorders 43 studies
- Oculocerebrorenal syndrome 2 studies
- Oculocutaneous tyrosinemia 2 studies
- Oculopharyngeal muscular dystrophy 1 study
- Oligodendroglioma 249 studies
- Omenn syndrome 2 studies
- Onchocerciasis 3 studies
- Oncogenic osteomalacia 1 study
- Opitz syndrome 9 studies
- Oppositional defiant disorder 16 studies
- Optic nerve disorder 33 studies
