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 60 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 411 studies
Acute monoblastic leukemia 118 studies
Acute mountain sickness 12 studies
Acute myelocytic leukemia 885 studies
Acute myelogenous leukemia 885 studies
Acute myeloid leukemia, adult 525 studies
Acute myelomonocytic leukemia 115 studies
Acute promyelocytic leukemia 90 studies
Acute respiratory distress syndrome 98 studies
Addison's disease 15 studies
Adenocarcinoma of lung 134 studies
Adenoid cystic carcinoma 62 studies
Adenomyosis 5 studies
Adrenal gland hyperfunction 4 studies
Adrenal gland hypofunction 37 studies
Adrenal hyperplasia 16 studies
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 1 study
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 91 studies
Anal cancer 51 studies
Anaplastic large cell lymphoma 235 studies
Ancylostoma duodenale 8 studies
Andersen Tawil syndrome 1 study
Androgenetic alopecia 7 studies
Anemia, hereditary spherocytic hemolytic 1 study
Anencephaly 4 studies
Aneuploidy 8 studies
Angelman syndrome 3 studies
Angiofollicular lymph hyperplasia 7 studies
Anguillulosis 2 studies
Aniridia 5 studies
Anodontia 2 studies
Anthrax 15 studies
Antiphospholipid syndrome 11 studies
Antisocial personality disorder 5 studies
Aortic coarctation 6 studies
Aortic valve stenosis 71 studies
Aphthous stomatitis 8 studies
Aplastic anemia 115 studies
Apparent mineralocorticoid excess 1 study
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 67 studies
Astrocytoma 577 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 768 studies
Bacterial endocarditis 10 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 23 studies
Behcet syndrome 10 studies
Bell's palsy 4 studies
Benign essential blepharospasm 10 studies
Benign essential tremor syndrome 25 studies
Benign mucosal pemphigoid 2 studies
Benign paroxysmal positional vertigo 4 studies
Berger disease 19 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 32 studies
Birt-Hogg-Dube syndrome 2 studies
Bladder neoplasm 272 studies
Blastoma 1 study
Blastomycosis 4 studies
Blepharospasm 10 studies
Bloom syndrome 1 study
Bone Marrow failure syndromes 8 studies
Bone neoplasms 58 studies
Borreliosis 11 studies
Botulism 4 studies
Bourneville syndrome 11 studies
Bowen's disease 7 studies
Brain Stem neoplasms 5 studies
Broad beta disease 3 studies
Bronchopulmonary dysplasia 41 studies
Brown-Sequard syndrome 1 study
Brucellosis 7 studies
Brugada syndrome 4 studies
Bruton type agammaglobulinemia 6 studies
Buerger's disease 1 study
Bullous pemphigoid 7 studies
Burkitt's lymphoma 505 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 640 studies
Carcinoma, squamous cell of head and neck 148 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 161 studies
Central serous chorioretinopathy 6 studies
Centrotemporal epilepsy 4 studies
Ceramide trihexosidosis 43 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 5 studies
Cholecystitis 18 studies
Cholera 19 studies
Cholestasis 43 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 72 studies
Choroideremia 1 study
Choroiditis 5 studies
Chromophil renal cell carcinoma 13 studies
Chromosomal abnormalities 129 studies
Chronic berylliosis 2 studies
Chronic granulomatous disease 22 studies
Chronic inflammatory demyelinating polyneuropathy 4 studies
Chronic lymphocytic leukemia 578 studies
Chronic myelogenous leukemia 657 studies
Chronic myelomonocytic leukemia 281 studies
Chronic Myeloproliferative Disorders 165 studies
Chronic neutropenia 2 studies
Chronic, Infantile, Neurological, Cutaneous, Articular syndrome 4 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 18 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 4 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 5 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 334 studies
Cutis laxa 2 studies
Cutis verticis gyrata 8 studies
Cyclic vomiting syndrome 6 studies
Cystic adenomatoid malformation of lung 2 studies
Cystic fibrosis 235 studies
Cysticercosis 11 studies
Cystinosis 9 studies
Cystinuria 2 studies
Cystosarcoma phyllodes 2 studies
Cytomegalic inclusion disease 165 studies
Cytomegalovirus 172 studies
Cytomegalovirus retinitis 60 studies
Dancing eyes-dancing feet syndrome 3 studies
Darier's disease 3 studies
Degenerative motor system disease 149 studies
Demyelinating diseases 373 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 8 studies
DiGeorge syndrome 13 studies
Dihydropyrimidine dehydrogenase deficiency 5 studies
Dilated cardiomyopathy 33 studies
Dilutional hyponatremia 8 studies
Diphtheria 121 studies
Dominant ichthyosis vulgaris 1 study
Dopamine beta hydroxylase deficiency 2 studies
Double outlet right ventricle 1 study
Duchenne muscular dystrophy 24 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 67 studies
Ectodermal dysplasia 6 studies
Ectopic pregnancy 5 studies
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 24 studies
Endocarditis 17 studies
Endocarditis, infective 10 studies
Endocrinopathy 4548 studies
Endometrial cancer 205 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 21 studies
Eosinophilic fasciitis 1 study
Ependymoma 158 studies
Epidermoid carcinoma 624 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 711 studies
Esophageal neoplasm 333 studies
Esophageal varices 14 studies
Esotropia 8 studies
Essential hypertension 153 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 43 studies
Facioscapulohumeral muscular dystrophy 1a 4 studies
Factor V Leiden thrombophilia 4 studies
Fallopian tube cancer 219 studies
Fallot tetralogy 15 studies
Familial adenomatous polyposis 16 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 7 studies
Familial polyposis 16 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 56 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 684 studies
Fragile X syndrome 7 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 86 studies
Gangliosidosis (GM2) Type1 2 studies
Gastric lymphoma 5 studies
Gastritis, familial giant hypertrophic 1 study
Gastrointestinal Stromal Tumors 91 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 29 studies
Geographic tongue 3 studies
Gestational trophoblastic disease 61 studies
Gestational Trophoblastic Neoplasms 61 studies
Giant cell myocarditis 2 studies
Giant hypertrophic gastritis 1 study
Gilles de la Tourette's syndrome 47 studies
Glaucoma, congenital 3 studies
Glioblastoma 458 studies
Glioblastoma multiforme 237 studies
Glioma 706 studies
Gliosarcoma 319 studies
Glomerulonephritis 90 studies
Glucose 6 phosphate dehydrogenase deficiency 8 studies
Glycogen storage disease type 2 27 studies
Gonadal dysgenesis 27 studies
Graft versus host disease 255 studies
Granulocytopenia 94 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 78 studies
Hailey Hailey disease 1 study
Hairy cell leukemia 143 studies
Hamman-Rich syndrome 56 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 58 studies
Hemangioblastoma 5 studies
Hemangiopericytoma 53 studies
Hemiplegia 32 studies
Hemochromatosis, type 3 22 studies
Hemoglobin SC disease 11 studies
Hemoglobinopathy 201 studies
Hemoglobinuria 25 studies
Hemolytic-uremic syndrome 4 studies
Hemophagocytic lymphohistiocytosis 9 studies
Hemophilia B 25 studies
Hemorrhagic fever 29 studies
Hemorrhagic thrombocythemia 114 studies
Hemosiderosis 13 studies
Henoch-Schonlein purpura 4 studies
Heparin-induced thrombocytopenia 18 studies
Hepatic fibrosis 30 studies
Hepatic venoocclusive disease 7 studies
Hepatitis E 1 study
Hepatoblastoma 15 studies
Hepatocellular carcinoma 461 studies
Hepatorenal syndrome 9 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 562 studies
Hodgkin lymphoma, childhood 189 studies
Hodgkin's disease 610 studies
Holoprosencephaly 5 studies
Homocystinuria 2 studies
Homologous wasting disease 255 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 11 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 21 studies
Hypopharyngeal cancer 245 studies
Hypophosphatasia 2 studies
Hypophosphatemic rickets 3 studies
Hypopituitarism 25 studies
Hypopituitary dwarfism 2 studies
Hypoplastic left heart syndrome 12 studies
I cell disease 2 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 31 studies
Idiopathic pulmonary hemosiderosis 1 study
Idiopathic pulmonary hypertension 100 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 46 studies
Infantile spasms 5 studies
Infective endocarditis 10 studies
Inflammatory breast cancer 62 studies
Insulinoma 29 studies
Intraocular melanoma 62 studies
Iridocyclitis 3 studies
Japanese encephalitis 22 studies
Job syndrome 11 studies
Joubert syndrome 1 1 study
Juvenile dermatomyositis 7 studies
Juvenile myelomonocytic leukemia 95 studies
Juvenile osteoporosis 3 studies
Kabuki syndrome 1 study
Kaposi sarcoma 97 studies
Kartagener syndrome 8 studies
Kawasaki syndrome 8 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 628 studies
Klatskin tumor 1 study
Klebsiella 8 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 79 studies
Laron-type dwarfism 2 studies
Laryngeal carcinoma 267 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 526 studies
Leukemia, mast-cell 22 studies
Leukemia, Myeloid 1173 studies
Leukemia, T-cell, chronic 1 study
Leukocytoclastic angiitis 1 study
Leukodystrophy 16 studies
Leukomalacia 11 studies
Leukoplakia 18 studies
Levator syndrome 1 study
Lewy body dementia 10 studies
Li Fraumeni syndrome 1 study
Lichen planus follicularis 1 study
Lichen sclerosis et atrophicus 1 study
Light chain disease 2 studies
Limb-girdle muscular dystrophy 4 studies
Limb-Girdle muscular dystrophy type 2A 2 studies
Lip and oral cavity cancer 76 studies
Lipodystrophy 72 studies
Liposarcoma 45 studies
Liver neoplasms 457 studies
Lobar atrophy of brain 26 studies
Localized scleroderma 2 studies
Loiasis 1 study
Lou Gehrig's disease 91 studies
Lowe oculocerebrorenal syndrome 2 studies
Lymphangioleiomyomatosis 11 studies
Lymphatic filariasis 8 studies
Lymphoblastic lymphoma 525 studies
Lymphocytic colitis 3 studies
Lymphoma, AIDS-related 23 studies
Lymphoma, large-cell 770 studies
Lymphoma, large-cell, immunoblastic 520 studies
Lymphoma, small cleaved-cell, diffuse 1107 studies
Lymphoma, small cleaved-cell, follicular 3 studies
Lymphomatoid granulomatosis 112 studies
Lymphomatoid papulosis 1 study
Lymphomatous thyroiditis 2 studies
Malaria 316 studies
Malignant astrocytoma 7 studies
Malignant fibrous histiocytoma 41 studies
Malignant germ cell tumor 42 studies
Malignant hyperthermia 1 study
Malignant mesenchymal tumor 605 studies
Malignant mixed Mullerian tumor 4 studies
Mansonelliasis 3 studies
Mantle cell lymphoma 588 studies
Marburg hemorrhagic fever 1 study
Marchiafava-Micheli disease 20 studies
Marfan syndrome 8 studies
Mast cell disease 20 studies
MAT deficiency 1 study
McCune Albright syndrome 11 studies
Measles 60 studies
Medulloblastoma 146 studies
Melanoma of the choroid 53 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 85 studies
Meningococcemia 3 studies
Meningomyelocele 4 studies
Menkes syndrome 1 study
Mercury poisoning 1 study
Merkel cell cancer 5 studies
Metabolic disorder 3950 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 15 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 29 studies
Morquio syndrome 1 study
Motor neuro-ophthalmic disorders 42 studies
Motor neuron disease 149 studies
Motor neuropathy 5 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 857 studies
Multiple system atrophy 22 studies
Multiple system atrophy (MSA) with orthostatic hypotension 6 studies
Mumps 40 studies
Muscular dystrophy 45 studies
Muscular dystrophy, Duchenne and Becker type 23 studies
Myalgic encephalomyelitis 19 studies
Myasthenia gravis 14 studies
Mycobacterium avium complex infection 44 studies
Mycoplasmal pneumonia 5 studies
Myelitis 55 studies
Myelodysplasia 751 studies
Myelodysplastic myeloproliferative disease 215 studies
Myelodysplastic syndromes 751 studies
Myelofibrosis 232 studies
Myelofibrosis-osteosclerosis 27 studies
Myocarditis 6 studies
Myoclonus epilepsy 8 studies
Myoglobinuria 1 study
Myopathy, myotubular 1 study
Myopia, severe 8 studies
Myositis, inclusion body 6 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 48 studies
Neuroblastoma 241 studies
Neuroepithelioma 1839 studies
Neurofibroma 36 studies
Neurofibromatosis type 1 29 studies
Neurofibromatosis type 2 7 studies
Neurosyphilis 1 study
Neurotoxicity syndromes 62 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) 53 studies
Non-small cell lung cancer 1388 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 32 studies
Optic neuropathy, anterior ischemic 7 studies
Oral cancer 112 studies
Oral facial digital syndrome 1 study
Oral facial dyskinesia 15 studies
Oral leukoplakia 11 studies
Oral lichen planus 11 studies
Oral squamous cell carcinoma 4 studies
Orbital lymphoma 1 study
Ornithine aminotransferase deficiency 2 studies
Ornithine Transcarbamylase Deficiency 5 studies
Oropharyngeal cancer, adult 3 studies
Orthostatic intolerance 16 studies
Osteochondromatosis 3 studies
Osteogenesis imperfecta 13 studies
Osteogenic sarcoma 176 studies
Osteomalacia 5 studies
Osteomyelitis 11 studies
Osteonecrosis 49 studies
Osteopetrosis 6 studies
Otosclerosis 2 studies
Ovarian cancer 781 studies
Ovarian carcinosarcoma 11 studies
Ovarian dwarfism 29 studies
Ovarian epithelial cancer 495 studies
Ovarian low malignant potential tumor 2 studies
Oxalosis 6 studies
Pagets disease 19 studies
Pallister-Hall syndrome 1 study
Palmoplantar Keratoderma 1 study
Palmoplantar keratoderma, epidermolytic 1 study
Pancreatic islet cell tumors 36 studies
Panhypopituitarism 3 studies
Panuveitis 35 studies
Papillary renal cell carcinoma 15 studies
Papilledema 2 studies
Papillitis 14 studies
Paraganglioma 19 studies
Parainfluenza virus type 3 5 studies
Paramyotonia congenita 2 studies
Paraplegia 16 studies
Parapsoriasis 2 studies
Parkes Weber syndrome 2 studies
Paroxysmal nocturnal hemoglobinuria 20 studies
Paroxysmal ventricular fibrillation 59 studies
Patent ductus arteriosus 16 studies
Pearson's marrow-pancreas syndrome 2 studies
Pediatric ulcerative colitis 1 study
Pemphigus 15 studies
Pemphigus vulgaris 8 studies
Pentalogy of Cantrell 2 studies
Peripheral neuroectodermal tumor 105 studies
Peripheral T-cell lymphoma 28 studies
Peutz Jeghers syndrome 3 studies
Phenylketonuria 18 studies
Pheochromocytoma 24 studies
Phosphoglycerate kinase deficiency 1 study
Photosensitive epilepsy 3 studies
Phytanic acid oxidase deficiency 2 studies
Pick disease of the brain 26 studies
Pigment-dispersion syndrome 3 studies
Pigmentary retinopathy 32 studies
Pilomatrixoma 2 studies
Pinealoma 30 studies
Plague 5 studies
Plasma cell leukemia 2 studies
Plasmacytoma anaplastic 64 studies
Pleuropulmonary blastoma 1 study
Pneumocystosis 44 studies
Pneumonia, eosinophilic 1 study
Poliomyelitis 60 studies
Polyarteritis 7 studies
Polyarteritis nodosa 7 studies
Polyarthritis 5 studies
Polycystic kidney disease, autosomal recessive 2 studies
Polycystic kidney disease, infantile type 2 studies
Polycystic liver disease 2 studies
Polycythemia vera 118 studies
Polydactyly 2 studies
Polymyositis 23 studies
Polyomavirus Infections 9 studies
Porphyria cutanea tarda 3 studies
Porphyria, congenital erythropoietic 15 studies
Portal hypertension 40 studies
Post Polio syndrome 7 studies
Post-transplant lymphoproliferative disease 5 studies
Post-traumatic epilepsy 2 studies
Postural hypotension 23 studies
Postural orthostatic tachycardia syndrome 2 studies
Poxviridae disease 1 study
Prader-Willi syndrome 12 studies
Precocious puberty 16 studies
Preeclampsia 68 studies
Pregnancy toxemia /hypertension 68 studies
Presbycusis 4 studies
Priapism 2 studies
Primary aldosteronism 8 studies
Primary Amyloidosis 17 studies
Primary biliary cirrhosis 18 studies
Primary ciliary dyskinesia 8 studies
Primary effusion lymphoma 15 studies
Primary immunodeficiency disorders 4 studies
Primary progressive aphasia 26 studies
Primary sclerosing cholangitis 10 studies
Prinzmetal's variant angina 3 studies
Progressive multifocal leukoencephalopathy 8 studies
Progressive spinal muscular atrophy 18 studies
Progressive supranuclear palsy 15 studies
Prolymphocytic leukemia 111 studies
Prostate cancer, familial 1 study
Proteus syndrome 1 study
Protoporphyria 3 studies
Prurigo nodularis 2 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 36 studies
Pseudoxanthoma elasticum 4 studies
Pterygium of the conjunctiva 17 studies
Pulmonary alveolar proteinosis 2 studies
Pulmonary arteriovenous malformation 5 studies
Pulmonary edema of mountaineers 6 studies
Pulmonary valve stenosis 5 studies
Pulmonary veins stenosis 3 studies
Pulmonary veno-occlusive disease 1 study
Pulmonic stenosis 5 studies
Pure red cell aplasia 14 studies
Pyoderma gangrenosum 2 studies
Pyropoikilocytosis 1 study
Pyrosis 53 studies
Q fever 1 study
Rabies 16 studies
Rasmussen encephalitis 2 studies
Rectal cancer 550 studies
Rectal neoplasm 206 studies
Recurrent respiratory papillomatosis 6 studies
Reflex sympathetic dystrophy syndrome 8 studies
Refractory anemia 185 studies
Refsum disease 2 studies
Refsum disease, infantile form 2 studies
Reiter's Syndrome 5 studies
Renal artery stenosis 17 studies
Renal cancer 628 studies
Renal hypertension 6 studies
Renal osteodystrophy 13 studies
Renal rickets 13 studies
Respiratory distress syndrome, infant 5 studies
Retinal degeneration 400 studies
Retinitis pigmentosa-deafness syndrome 5 studies
Retinoblastoma 38 studies
Retinopathy of prematurity 24 studies
Retinoschisis 2 studies
Retroperitoneal fibrosis 1 study
Rett syndrome 10 studies
Rhabdoid tumor 36 studies
Rhabdomyosarcoma, embryonal 5 studies
Rheumatic Fever 5 studies
Richter syndrome 5 studies
Rickets 23 studies
Rickettsial disease 3 studies
Rickettsiosis 3 studies
Rod myopathy 1 study
Roussy Levy hereditary areflexic dystasia 36 studies
Rubella 41 studies
Salivary gland cancer, adult 1 study
Sandhoff disease 5 studies
Sarcoidosis 43 studies
Sarcoidosis, pulmonary 6 studies
SARS 50 studies
Scheuermann's disease 1 study
Schistosomiasis 14 studies
Scleroderma, diffuse 8 studies
Scott syndrome 1 study
Secondary pulmonary hypertension 9 studies
Seminoma 39 studies
Senior Loken Syndrome 1 study
Sensorineural hearing loss 19 studies
Septo-optic dysplasia 11 studies
Severe combined immunodeficiency 21 studies
Severe combined immunodeficiency, X-linked 5 studies
Severe congenital neutropenia 7 studies
Sezary syndrome 292 studies
Sharp syndrome 4 studies
Shigellosis 6 studies
Shwachman syndrome 4 studies
Shwachman-Diamond syndrome 4 studies
Sickle cell anemia 140 studies
Siderosis 2 studies
Silicosis 1 study
Single ventricular heart 16 studies
Sinus cancer 4 studies
Sitosterolemia 10 studies
Situs inversus viscerum 11 studies
Skeletal dysplasias 2 studies
Sly syndrome 1 study
Small non-cleaved cell lymphoma 212 studies
Smith-Magenis Syndrome 4 studies
Soft tissue sarcomas 605 studies
Spasmodic dysphonia 9 studies
Spastic dysphonia 9 studies
Spastic paraparesis 8 studies
Spastic paraplegia 3, autosomal dominant 1 study
Spastic paraplegia epilepsy mental retardation 26 studies
Spherocytosis 1 study
Sphingolipidosis 94 studies
Spielmeyer-Vogt disease 5 studies
Spina bifida 13 studies
Spinal cord neoplasm 32 studies
Spinal muscular atrophy 18 studies
Spinal shock 1 study
Splenomegaly 4 studies
Spondylarthritis 106 studies
Spondylarthropathies 104 studies
Spondylitis 62 studies
Spongiform encephalopathy 2 studies
Sporotrichosis 3 studies
Squamous cell carcinoma 624 studies
Status epilepticus 10 studies
Stevens-Johnson syndrome 2 studies
Stiff-person syndrome 3 studies
Still's disease 2 studies
Stomach cancer 379 studies
Storage pool platelet disease 4 studies
Streptococcal Group A invasive disease 1 study
Strongyloidiasis 2 studies
Sturge-Weber syndrome 2 studies
Sudden infant death syndrome 3 studies
Superior vena cava syndrome 1 study
Sydenham's chorea 2 studies
Syndrome X 100 studies
Synovial sarcoma 45 studies
Synovitis 14 studies
Syphilis 17 studies
Syringomyelia 3 studies
Systemic mastocytosis 9 studies
T cell immunodeficiency primary 11 studies
T-Lymphocytopenia 1 study
Takayasu arteritis 4 studies
Tako-Tsubo syndrome 1 study
Talipes equinovarus 9 studies
Tangier disease 1 study
Tardive dyskinesia 15 studies
Tay-Sachs disease 6 studies
Temporal arteritis 11 studies
Testicular cancer 148 studies
Testotoxicosis 1 study
Tetanus 131 studies
Tetrahydrobiopterin deficiencies 3 studies
Thalassemia 91 studies
Thalassemia minor 35 studies
Thoracic outlet syndrome 1 study
Thrombasthenia 2 studies
Thrombasthenia of Glanzmann and Naegeli 2 studies
Thrombocytopathy 184 studies
Thrombocytopenic purpura, autoimmune 41 studies
Thrombotic thrombocytopenic purpura, acquired 8 studies
Thyroid cancer, anaplastic 22 studies
Thyroid cancer, follicular 33 studies
Thyroid cancer, medullary 42 studies
Thyroid cancer, papillary 36 studies
Thyrotropin deficiency, isolated 1 study
Tick-borne encephalitis 13 studies
Tomaculous neuropathy 36 studies
Tongue neoplasm 1 study
Torulopsis 28 studies
Toxic epidermal necrolysis 1 study
Tracheobronchomalacia 3 studies
Transitional cell carcinoma 139 studies
Transposition of great arteries 9 studies
Trichothiodystrophy 1 study
Trichotillomania 8 studies
Tricuspid atresia 4 studies
Trigeminal neuralgia 7 studies
Tropical Spastic Paraparesis 8 studies
Tuberculosis 216 studies
Tuberculosis, pulmonary 44 studies
Tuberculous meningitis 1 study
Tuberous sclerosis 11 studies
Tularemia 1 study
Turner syndrome 29 studies
Turner-like syndrome 2 studies
Twin twin transfusion syndrome 1 study
Tylosis 62 studies
Typhoid 12 studies
Typhoid fever 12 studies
Typhus 2 studies
Tyrosinemia 2 studies
Urea cycle disorders 9 studies
Urethral cancer 48 studies
Urinary tract neoplasm 746 studies
Urticaria pigmentosa 3 studies
Usher syndrome 5 studies
Usher syndrome, type 1 1 study
Uterine sarcoma 85 studies
Uveal melanoma 62 studies
Vaginal cancer 42 studies
Varicella Zoster 18 studies
Vasopressin-resistant diabetes insipidus 2 studies
Velocardiofacial syndrome 13 studies
Velopharyngeal incompetence 1 study
Ventricular septal defects 15 studies
Vernal keratoconjunctivitis 6 studies
Viral hemorrhagic fever 29 studies
Virus associated hemophagocytic syndrome 2 studies
Vitamin D resistant rickets 5 studies
Vogt-Koyanagi-Harada syndrome 1 study
Von Gierke disease 8 studies
Von Hippel-Lindau syndrome 16 studies
Von Willebrand disease 21 studies
Von Willebrand disease, recessive form 1 study
Vulvar cancer 42 studies
Vulvar Vestibulitis Syndrome 8 studies
Waldenstrom macroglobulinemia 262 studies
Watermelon stomach 1 study
Weber syndrome 2 studies
Wegener's granulomatosis 30 studies
Wells syndrome 5 studies
Werdnig-Hoffmann disease 4 studies
Werner's syndrome 1 study
West nile encephalitis 4 studies
West nile virus 13 studies
West syndrome 5 studies
Whooping cough 113 studies
Williams syndrome 2 studies
Wilms' tumor 105 studies
Wilson disease 4 studies
Wiskott Aldrich syndrome 12 studies
Wolff-Parkinson-White syndrome 1 study
Wolman disease 3 studies
X-linked adrenal hypoplasia congenita 1 study
X-linked adrenoleukodystrophy 15 studies
X-linked agammaglobulinemia 6 studies
X-linked lymphoproliferative syndrome 4 studies
X-linked mental retardation and macro-orchidism 7 studies
Xeroderma pigmentosum 6 studies
Yellow fever 7 studies
Zellweger syndrome 2 studies
Zollinger-Ellison syndrome 8 studies
5-Nucleotidase syndrome 1 study
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