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Aase syndrome 19 studies
Abdominal aortic aneurysm 55 studies
Abdominal obesity metabolic syndrome 96 studies
Abetalipoproteinemia 2 studies
Acanthocheilonemiasis 3 studies
Acanthosis nigricans 2 studies
Achalasia 10 studies
Achondroplasia 1 study
Acoustic neuroma 3 studies
Acromegaly 61 studies
ACTH deficiency 1 study
Acute articular rheumatism 6 studies
Acute disseminated encephalomyelitis 2 studies
Acute erythroblastic leukemia 126 studies
Acute idiopathic polyneuritis 5 studies
Acute intermittent porphyria 3 studies
Acute lymphoblastic leukemia, adult 432 studies
Acute monoblastic leukemia 123 studies
Acute mountain sickness 12 studies
Acute myelocytic leukemia 939 studies
Acute myelogenous leukemia 939 studies
Acute myeloid leukemia, adult 546 studies
Acute myelomonocytic leukemia 120 studies
Acute promyelocytic leukemia 91 studies
Acute respiratory distress syndrome 181 studies
Addison's disease 27 studies
Adenocarcinoma of lung 138 studies
Adenoid cystic carcinoma 65 studies
Adenomyosis 5 studies
Adrenal gland hyperfunction 4 studies
Adrenal gland hypofunction 38 studies
Adrenal hyperplasia 16 studies
Adrenal incidentaloma 1 study
Adrenocortical carcinoma 35 studies
Adult onset Still's disease 1 study
Advanced sleep phase syndrome 1 study
Afibrinogenemia 1 study
African trypanosomiasis 5 studies
Aggressive fibromatosis 10 studies
Aggressive systemic mastocytosis 3 studies
Aicardi syndrome 2 studies
AIDS Dementia Complex 19 studies
Alagille syndrome 3 studies
Albers-Schonberg disease 7 studies
Albinism 7 studies
Albright's hereditary osteodystrophy 4 studies
Alkaptonuria 2 studies
Allergic bronchopulmonary aspergillosis 2 studies
Alopecia areata 12 studies
Alopecia totalis 4 studies
Alopecia universalis 2 studies
Alpha 1-antitrypsin deficiency 22 studies
Alpha-L-iduronidase deficiency 20 studies
Alpha-Thalassemia 2 studies
Alport syndrome 3 studies
Alstrom syndrome 1 study
Alveolar echinococcosis 2 studies
Alveolar soft part sarcoma 25 studies
Alzheimer disease type 2 2 studies
Amaurosis congenita of Leber 5 studies
Amaurosis congenita of Leber, type 2 1 study
Amebiasis 4 studies
Amyloid angiopathy 1 study
Amyloid Neuropathies 3 studies
Amyotrophic lateral sclerosis 101 studies
Anal cancer 56 studies
Anaplastic large cell lymphoma 247 studies
Ancylostoma duodenale 8 studies
Andersen Tawil syndrome 1 study
Androgenetic alopecia 7 studies
Anemia, hereditary spherocytic hemolytic 1 study
Anencephaly 4 studies
Aneuploidy 11 studies
Angelman syndrome 4 studies
Angiofollicular lymph hyperplasia 7 studies
Anguillulosis 3 studies
Aniridia 7 studies
Anodontia 2 studies
Anthrax 15 studies
Antiphospholipid syndrome 11 studies
Antisocial personality disorder 6 studies
Aortic coarctation 7 studies
Aortic valve stenosis 81 studies
Aphthous stomatitis 8 studies
Aplastic anemia 120 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 15 studies
Arrhythmogenic right ventricular dysplasia 3 studies
Asbestosis 1 study
Aspartylglycosaminuria 1 study
Aspergillosis 48 studies
Asphyxia neonatorum 11 studies
Asthenia 72 studies
Astrocytoma 605 studies
Ataxia-Telangiectasia 33 studies
Atrioventricular septal defect 1 study
Atypical mole syndrome 3 studies
Auditory perceptual disorder 4 studies
Autoimmune enteropathy 1 study
Autoimmune hemolytic anemia 12 studies
Autoimmune hepatitis 5 studies
Autoimmune lymphoproliferative syndrome 7 studies
Autosomal dominant partial epilepsy with auditory features 1 study
B-cell lymphomas 801 studies
Bacterial endocarditis 11 studies
Bacterial meningitis 4 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 26 studies
Behcet syndrome 10 studies
Bell's palsy 5 studies
Benign essential blepharospasm 13 studies
Benign essential tremor syndrome 26 studies
Benign mucosal pemphigoid 2 studies
Benign paroxysmal positional vertigo 5 studies
Berger disease 22 studies
Berylliosis 2 studies
Beta-galactosidase-1 deficiency 3 studies
Beta-thalassemia 39 studies
Bile duct cancer, extrahepatic 74 studies
Biliary atresia 7 studies
Biliary cirrhosis 19 studies
Biliary tract cancer 33 studies
Birt-Hogg-Dube syndrome 2 studies
Bladder neoplasm 288 studies
Blastoma 2 studies
Blastomycosis 5 studies
Blepharospasm 13 studies
Bloom syndrome 1 study
Bone Marrow failure syndromes 9 studies
Bone neoplasms 64 studies
Borreliosis 11 studies
Botulism 4 studies
Bourneville syndrome 13 studies
Bowen's disease 7 studies
Brain Stem neoplasms 5 studies
Broad beta disease 3 studies
Bronchopulmonary dysplasia 43 studies
Brown-Sequard syndrome 1 study
Brucellosis 7 studies
Brugada syndrome 5 studies
Bruton type agammaglobulinemia 6 studies
Buerger's disease 1 study
Bullous pemphigoid 9 studies
Burkitt's lymphoma 516 studies
Burning mouth syndrome 6 studies
Buruli ulcer 1 study
Canavan disease 3 studies
Carcinoid syndrome 35 studies
Carcinoid tumor 99 studies
Carcinoma, squamous cell 687 studies
Carcinoma, squamous cell of head and neck 159 studies
Cardiogenital syndrome 1 study
Cardiospasm 10 studies
Carney syndrome 2 studies
Carnitine palmitoyl transferase 2 deficiency 1 study
Caroli disease 1 study
Cataplexy 9 studies
Central nervous system lymphoma, primary 164 studies
Central serous chorioretinopathy 10 studies
Centrotemporal epilepsy 2 studies
Ceramide trihexosidosis 42 studies
Cerebellar ataxia 12 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 70 studies
Chagas disease 9 studies
Chalazion 1 study
Chandler's syndrome 2 studies
Charcot Marie Tooth disease 42 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
Chicken pox 71 studies
Chikungunya 1 study
Childhood disintegrative disorder 2 studies
Childhood-Onset Schizophrenia 6 studies
Cholecystitis 19 studies
Cholera 21 studies
Cholestasis 47 studies
Chondrocalcinosis 2 1 study
Chondrosarcoma 44 studies
Chordoma 15 studies
Chorea minor 2 studies
Choreoacanthocytosis 1 study
Choriocarcinoma 46 studies
Chorioretinitis 1 study
Choroid Plexus neoplasms 76 studies
Choroideremia 1 study
Choroiditis 5 studies
Chromophil renal cell carcinoma 14 studies
Chromosomal abnormalities 148 studies
Chronic berylliosis 2 studies
Chronic granulomatous disease 24 studies
Chronic inflammatory demyelinating polyneuropathy 6 studies
Chronic lymphocytic leukemia 860 studies
Chronic myelogenous leukemia 686 studies
Chronic myelomonocytic leukemia 297 studies
Chronic Myeloproliferative Disorders 175 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 79 studies
COACH syndrome 1 study
Coal worker's pneumoconiosis 4 studies
Coats disease 2 studies
Coccidioidomycosis 9 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 7 studies
Complete atrioventricular canal 3 studies
Conductive hearing loss 2 studies
Condyloma 20 studies
Condyloma acuminatum 20 studies
Cone rod dystrophy 34 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 5 studies
Corneal dystrophy 12 studies
Corneal dystrophy, epithelial basement membrane 1 study
Corneal dystrophy, Fuchs' endothelial, 1 7 studies
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, pediatric 9 studies
Cryptococcosis 27 studies
Cryptosporidiosis 19 studies
Currarino triad 1 study
Cutaneous lupus erythematosus 15 studies
Cutaneous T-cell lymphoma 352 studies
Cutis laxa 4 studies
Cutis verticis gyrata 8 studies
Cyclic vomiting syndrome 6 studies
Cystic adenomatoid malformation of lung 2 studies
Cystic fibrosis 270 studies
Cysticercosis 11 studies
Cystinosis 9 studies
Cystinuria 2 studies
Cystosarcoma phyllodes 2 studies
Cytomegalic inclusion disease 170 studies
Cytomegalovirus 176 studies
Cytomegalovirus retinitis 60 studies
Dancing eyes-dancing feet syndrome 4 studies
Darier's disease 3 studies
Degenerative motor system disease 166 studies
Demyelinating diseases 405 studies
Dengue fever 26 studies
Depersonalization disorder 2 studies
Dermatofibroma 2 studies
Dermatofibrosarcoma protuberans 16 studies
Dermatomyositis 24 studies
Desmoid tumor 10 studies
Desmoplastic small round cell tumor 23 studies
Devic disease 5 studies
Dextrocardia 12 studies
Di Guglielmo's syndrome 126 studies
Diabetes insipidus primary central 1 study
Diamond Blackfan anemia 19 studies
Diaphyseal medullary stenosis with malignant fibrous histiocytoma 1 study
Diffuse systemic sclerosis 9 studies
DiGeorge syndrome 15 studies
Dihydropyrimidine dehydrogenase deficiency 5 studies
Dilated cardiomyopathy 36 studies
Dilutional hyponatremia 8 studies
Diphtheria 132 studies
Dominant ichthyosis vulgaris 1 study
Dopamine beta hydroxylase deficiency 3 studies
Double outlet right ventricle 1 study
Duchenne muscular dystrophy 27 studies
Dupuytren's contracture 11 studies
Dwarfism 94 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 16 studies
Dystrophic epidermolysis bullosa 3 studies
Eales disease 1 study
Ebola virus disease 2 studies
Ebstein's anomaly 1 study
Eccentrochondrodysplasia 2 studies
Eclampsia 76 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 5 studies
Eisenmenger syndrome 6 studies
Ekbom syndrome 68 studies
Elective mutism 2 studies
Embryonal sarcoma 2 studies
Encephalomyelitis 25 studies
Endocarditis 18 studies
Endocarditis, infective 11 studies
Endocrinopathy 5002 studies
Endometrial cancer 219 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 22 studies
Eosinophilic fasciitis 1 study
Ependymoma 161 studies
Epidermoid carcinoma 652 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 23 studies
Erysipelas 2 studies
Erythroplakia 3 studies
Erythropoietic protoporphyria 3 studies
Esophageal atresia 1 study
Esophageal disorder 760 studies
Esophageal neoplasm 350 studies
Esophageal varices 16 studies
Esotropia 8 studies
Essential hypertension 168 studies
Essential thrombocytosis 117 studies
Ewing's family of tumors 128 studies
Ewing's sarcoma 133 studies
Exfoliative dermatitis 5 studies
Exostoses 3 studies
Exostoses, multiple 3 studies
Extragonadal Germ Cell Tumor 60 studies
Fabry disease 42 studies
Facioscapulohumeral muscular dystrophy 1a 5 studies
Factor V Leiden thrombophilia 4 studies
Fallopian tube cancer 229 studies
Fallot tetralogy 15 studies
Familial adenomatous polyposis 19 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 Mediterranean fever 7 studies
Familial polyposis 19 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 51 studies
Fibrosing alveolitis 3 studies
Fibrous dysplasia 11 studies
Fibrous dysplasia of bone 11 studies
Filariasis 16 studies
Focal dermal hypoplasia 1 study
Focal dystonia 21 studies
Focal facial dermal dysplasia 1 study
Focal segmental glomerulosclerosis 22 studies
Follicular lymphoma 709 studies
Fragile X syndrome 9 studies
Fraser syndrome 1 study
Friedreich ataxia 11 studies
Frontotemporal dementia 28 studies
Fryns syndrome 1 study
Fucosidosis 4 studies
Galactorrhoea-Hyperprolactinaemia 7 studies
Galactose epimerase deficiency 2 studies
Galactosemia 2 studies
Gall bladder cancer 91 studies
Gangliosidosis (GM2) Type1 8 studies
Gastric lymphoma 5 studies
Gastritis, familial giant hypertrophic 1 study
Gastrointestinal Stromal Tumors 101 studies
Gastroschisis 3 studies
Gaucher Disease 34 studies
Gaucher disease type 1 5 studies
Gelatinous ascites 4 studies
Gelineau's syndrome 18 studies
Genital dwarfism 30 studies
Geographic tongue 3 studies
Gestational trophoblastic disease 67 studies
Gestational Trophoblastic Neoplasms 67 studies
Giant cell myocarditis 2 studies
Giant hypertrophic gastritis 1 study
Gilles de la Tourette's syndrome 48 studies
Glaucoma, congenital 3 studies
Glioblastoma 481 studies
Glioblastoma multiforme 250 studies
Glioma 745 studies
Gliosarcoma 326 studies
Glomerulonephritis 101 studies
Glucose 6 phosphate dehydrogenase deficiency 8 studies
Glycogen storage disease type 2 29 studies
Gonadal dysgenesis 28 studies
Graft versus host disease 274 studies
Granulocytopenia 76 studies
Granuloma annulare 3 studies
Graves' disease 21 studies
Gray platelet syndrome 2 studies
Great vessels transposition 9 studies
Growth hormone deficiency 84 studies
Guillain-Barre syndrome 5 studies
Haemophilus influenzae 85 studies
Hailey Hailey disease 1 study
Hairy cell leukemia 152 studies
Hamman-Rich syndrome 59 studies
Hantavirosis 1 study
Hantavirus pulmonary syndrome 1 study
Hashimoto's syndrome 2 studies
Heart block progressive, familial 3 studies
Heart tumor 1 study
Heavy metal poisoning 1 study
HELLP syndrome 5 studies
Helminthiasis 66 studies
Hemangioblastoma 5 studies
Hemangiopericytoma 56 studies
Hemiplegia 39 studies
Hemochromatosis, type 3 23 studies
Hemoglobin SC disease 11 studies
Hemoglobinopathy 211 studies
Hemoglobinuria 25 studies
Hemolytic-uremic syndrome 4 studies
Hemophagocytic lymphohistiocytosis 9 studies
Hemophilia B 26 studies
Hemorrhagic fever 30 studies
Hemorrhagic thrombocythemia 117 studies
Hemosiderosis 13 studies
Henoch-Schonlein purpura 4 studies
Heparin-induced thrombocytopenia 21 studies
Hepatic fibrosis 32 studies
Hepatic venoocclusive disease 7 studies
Hepatitis E 2 studies
Hepatoblastoma 15 studies
Hepatocellular carcinoma 317 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 7 studies
Herpes simplex encephalitis 1 study
Herpes zoster ophthalmicus 2 studies
Herpetic keratitis 3 studies
Hidradenitis suppurativa 8 studies
Hip dislocation 9 studies
Hip Dysplasia 6 studies
Hirschsprung's disease 3 studies
Histiocytosis X 13 studies
Hodgkin lymphoma, adult 590 studies
Hodgkin lymphoma, childhood 195 studies
Hodgkin's disease 641 studies
Hollow visceral myopathy 2 studies
Holoprosencephaly 5 studies
Homocystinuria 2 studies
Homologous wasting disease 274 studies
Horton’s disease 11 studies
Hunter syndrome 8 studies
Hunter-McAlpine syndrome 7 studies
Huntington disease 36 studies
Hurler syndrome 16 studies
Hutchinson Gilford progeria syndrome 3 studies
Hydatidosis 3 studies
Hydrocephalus 24 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 17 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 7 studies
Hypoadrenalism 38 studies
Hypoaldosteronism 2 studies
Hypoalphalipoproteinemia, primary 1 study
Hypokalemia 5 studies
Hypokalemic periodic paralysis 2 studies
Hypolipoproteinemia 8 studies
Hypomelanotic disorder 24 studies
Hypoparathyroidism 25 studies
Hypopharyngeal cancer 255 studies
Hypophosphatasia 2 studies
Hypophosphatemic rickets 3 studies
Hypopituitarism 93 studies
Hypopituitary dwarfism 83 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 17 studies
Idiopathic hypertrophic subaortic stenosis (IHSS) 2 studies
Idiopathic myopathy 36 studies
Idiopathic pulmonary hemosiderosis 1 study
Idiopathic pulmonary hypertension 115 studies
Immune defect due to absence of thymus 1 study
Immune thrombocytopenia 4 studies
Immunoglobulin a deficiency 1 1 study
Inborn amino acid metabolism disorder 50 studies
Infantile spasms 5 studies
Infective endocarditis 11 studies
Inflammatory breast cancer 65 studies
Insulinoma 29 studies
Intestinal pseudo-obstruction 2 studies
Intraocular melanoma 68 studies
Iridocyclitis 3 studies
Japanese encephalitis 23 studies
Job syndrome 11 studies
Joubert syndrome 1 1 study
Juvenile dermatomyositis 8 studies
Juvenile myelomonocytic leukemia 99 studies
Juvenile osteoporosis 3 studies
Kabuki syndrome 1 study
Kaposi sarcoma 99 studies
Kartagener syndrome 10 studies
Kawasaki syndrome 9 studies
Kennedy disease 2 studies
Keratoconjunctivitis sicca 18 studies
Keratoconus 21 studies
Keratomalacia 12 studies
Keratosis follicularis spinulosa decalvans 9 studies
Keratosis palmoplantaris with corneal dystrophy 2 studies
Keratosis, seborrheic 2 studies
Kidney cancer 650 studies
Klatskin tumor 2 studies
Klebsiella 9 studies
Klinefelter syndrome 4 studies
Klippel Trenaunay Weber syndrome 2 studies
Krabbe leukodystrophy 7 studies
Lafora disease 1 study
Lambert-Eaton Myasthenic Syndrome 4 studies
Lamellar ichthyosis 9 studies
Landouzy-Dejerine muscular dystrophy 5 studies
Langerhans cell histiocytosis 13 studies
Large granular lymphocyte leukemia 81 studies
Laron-type dwarfism 2 studies
Laryngeal carcinoma 278 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 87 studies
Leishmaniasis 54 studies
Lentigo maligna melanoma 5 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 848 studies
Leukemia, mast-cell 26 studies
Leukemia, Myeloid 1240 studies
Leukemia, T-cell, chronic 2 studies
Leukocytoclastic angiitis 1 study
Leukodystrophy 17 studies
Leukomalacia 12 studies
Leukoplakia 19 studies
Levator syndrome 1 study
Lewy body dementia 12 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 81 studies
Lipodystrophy 74 studies
Liposarcoma 45 studies
Liver neoplasms 495 studies
Lobar atrophy of brain 28 studies
Localized scleroderma 3 studies
Loiasis 1 study
Lou Gehrig's disease 101 studies
Lowe oculocerebrorenal syndrome 2 studies
Lymphangioleiomyomatosis 13 studies
Lymphatic filariasis 8 studies
Lymphoblastic lymphoma 541 studies
Lymphocytic colitis 3 studies
Lymphoma, AIDS-related 25 studies
Lymphoma, large-cell 800 studies
Lymphoma, large-cell, immunoblastic 533 studies
Lymphoma, small cleaved-cell, diffuse 1150 studies
Lymphoma, small cleaved-cell, follicular 3 studies
Lymphomatoid granulomatosis 123 studies
Lymphomatoid papulosis 1 study
Lymphomatous thyroiditis 2 studies
Malaria 328 studies
Malignant astrocytoma 7 studies
Malignant fibrous histiocytoma 44 studies
Malignant germ cell tumor 44 studies
Malignant hyperthermia 1 study
Malignant mesenchymal tumor 628 studies
Malignant mixed Mullerian tumor 4 studies
Mansonelliasis 3 studies
Mantle cell lymphoma 609 studies
Marburg hemorrhagic fever 1 study
Marchiafava-Micheli disease 20 studies
Marfan syndrome 10 studies
Mast cell disease 23 studies
MAT deficiency 1 study
McCune Albright syndrome 11 studies
Measles 60 studies
Medulloblastoma 150 studies
Melanoma of the choroid 55 studies
Melanoma, familial 30 studies
MELAS syndrome 2 studies
Membranoproliferative glomerulonephritis (type 2) 1 study
Membranous nephropathy, idiopathic 14 studies
Meningocele 3 studies
Meningococcal infection 92 studies
Meningococcemia 8 studies
Meningomyelocele 4 studies
Menkes syndrome 2 studies
Mercury poisoning 1 study
Merkel cell cancer 6 studies
Metabolic disorder 4349 studies
Metachromatic leukodystrophy 10 studies
Metastatic squamous neck cancer with occult primary 113 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 3 studies
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 2 studies
Motor neuro-ophthalmic disorders 45 studies
Motor neuron disease 166 studies
Motor neuropathy 6 studies
Moyamoya disease 1 1 study
Muckle-Wells syndrome 5 studies
Mucopolysaccharidosis 31 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 902 studies
Multiple system atrophy 24 studies
Multiple system atrophy (MSA) with orthostatic hypotension 7 studies
Mumps 40 studies
Muscular dystrophy 50 studies
Muscular dystrophy, Duchenne and Becker type 26 studies
Myalgic encephalomyelitis 20 studies
Myasthenia gravis 16 studies
Mycobacterium avium complex infection 45 studies
Mycoplasmal pneumonia 5 studies
Myelitis 61 studies
Myelodysplasia 793 studies
Myelodysplastic myeloproliferative disease 226 studies
Myelodysplastic syndromes 793 studies
Myelofibrosis 248 studies
Myelofibrosis-osteosclerosis 60 studies
Myocarditis 6 studies
Myoclonus epilepsy 8 studies
Myoglobinuria 1 study
Myopathy, myotubular 1 study
Myopia, severe 9 studies
Myositis, inclusion body 8 studies
Myotonia atrophica 16 studies
Myxoid liposarcoma 1 study
Nail Patella syndrome 1 study
Narcolepsy 18 studies
Nasopharyngeal carcinoma 245 studies
Necrotizing enterocolitis 23 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 2 studies
Nephrogenic diabetes insipidus 2 studies
Nephrogenic Fibrosing Dermopathy 6 studies
Nephropathic cystinosis 7 studies
Nerve sheath neoplasm 4 studies
Nesidioblastosis of pancreas 2 studies
Netherton syndrome 1 study
Neural tube defect, folate-sensitive 52 studies
Neuroblastoma 259 studies
Neuroepithelioma 1925 studies
Neurofibroma 37 studies
Neurofibromatosis type 1 36 studies
Neurofibromatosis type 2 7 studies
Neurosyphilis 1 study
Neurotoxicity syndromes 95 studies
Nevi flammei, familial multiple 13 studies
Nevoid basal cell carcinoma syndrome 8 studies
Niemann-Pick Disease 8 studies
Niemann-Pick disease, type C1 8 studies
Non-alcoholic steatohepatitis (NASH) 63 studies
Non-small cell lung cancer 1475 studies
Nondystrophic myotonia 2 studies
Nonseminomatous germ cell tumor 20 studies
Nonsyndromic hereditary hearing impairment 2 studies
Noonan syndrome 2 studies
Occipital horn syndrome 1 study
Ochronosis 2 studies
Ocular cicatricial pemphigoid 1 study
Ocular melanoma 20 studies
Ocular motility disorders 46 studies
Oculocerebrorenal syndrome 3 studies
Oculocutaneous tyrosinemia 2 studies
Oculopharyngeal muscular dystrophy 2 studies
Oligodendroglioma 254 studies
Omenn syndrome 2 studies
Onchocerciasis 4 studies
Oncogenic osteomalacia 1 study
Opitz syndrome 9 studies
Oppositional defiant disorder 18 studies
Optic atrophy 1 1 study
Optic nerve disorder 37 studies
Optic neuropathy, anterior ischemic 9 studies
Oral cancer 117 studies
Oral facial digital syndrome 1 study
Oral facial dyskinesia 15 studies
Oral leukoplakia 12 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 4 studies
Orthostatic intolerance 18 studies
Osteochondromatosis 3 studies
Osteogenesis imperfecta 13 studies
Osteogenic sarcoma 174 studies
Osteomalacia 6 studies
Osteomyelitis 9 studies
Osteonecrosis 61 studies
Osteopetrosis 7 studies
Otosclerosis 2 studies
Ovarian cancer 814 studies
Ovarian carcinosarcoma 12 studies
Ovarian dwarfism 30 studies
Ovarian epithelial cancer 516 studies
Ovarian low malignant potential tumor 2 studies
Oxalosis 6 studies
Pagets disease 20 studies
Pallister-Hall syndrome 1 study
Palmoplantar Keratoderma 1 study
Palmoplantar keratoderma, epidermolytic 1 study
Pancreatic islet cell tumors 38 studies
Panhypopituitarism 3 studies
Panuveitis 37 studies
Papillary renal cell carcinoma 16 studies
Papilledema 3 studies
Papillitis 15 studies
Paraganglioma 19 studies
Parainfluenza virus type 3 5 studies
Paramyotonia congenita 2 studies
Paraplegia 17 studies
Parapsoriasis 2 studies
Parkes Weber syndrome 2 studies
Paroxysmal nocturnal hemoglobinuria 20 studies
Paroxysmal ventricular fibrillation 62 studies
Patau syndrome 1 study
Patent ductus arteriosus 18 studies
Pearson's marrow-pancreas syndrome 2 studies
Pediatric ulcerative colitis 1 study
Pemphigus 16 studies
Pemphigus vulgaris 8 studies
Pentalogy of Cantrell 2 studies
Peripheral neuroectodermal tumor 110 studies
Peripheral T-cell lymphoma 32 studies
Peutz Jeghers syndrome 5 studies
Peyronie disease 2 studies
Phenylketonuria 20 studies
Pheochromocytoma 26 studies
Phosphate diabetes 2 studies
Phosphoglycerate kinase deficiency 1 study
Photosensitive epilepsy 4 studies
Phytanic acid oxidase deficiency 2 studies
Pick disease of the brain 28 studies
Pigment-dispersion syndrome 3 studies
Pigmentary retinopathy 34 studies
Pilomatrixoma 2 studies
Pinealoma 34 studies
Pityriasis rubra pilaris 1 study
Plague 4 studies
Plasma cell leukemia 3 studies
Plasmacytoma anaplastic 66 studies
Pleuropulmonary blastoma 2 studies
Pneumocystosis 44 studies
Pneumonia, eosinophilic 1 study
Poliomyelitis 66 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 3 studies
Polycythemia vera 121 studies
Polydactyly 2 studies
Polymyositis 24 studies
Polyomavirus Infections 9 studies
Porphyria cutanea tarda 3 studies
Porphyria, congenital erythropoietic 15 studies
Portal hypertension 45 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 26 studies
Postural orthostatic tachycardia syndrome 13 studies
Poxviridae disease 1 study
Prader-Willi syndrome 14 studies
Precocious puberty 17 studies
Preeclampsia 77 studies
Pregnancy toxemia /hypertension 77 studies
Presbycusis 4 studies
Priapism 2 studies
Primary aldosteronism 8 studies
Primary Amyloidosis 20 studies
Primary biliary cirrhosis 19 studies
Primary ciliary dyskinesia 10 studies
Primary effusion lymphoma 16 studies
Primary immunodeficiency disorders 4 studies
Primary progressive aphasia 28 studies
Primary sclerosing cholangitis 10 studies
Prinzmetal's variant angina 3 studies
Proctitis 2 studies
Progressive multifocal leukoencephalopathy 8 studies
Progressive spinal muscular atrophy 20 studies
Progressive supranuclear palsy 15 studies
Prolymphocytic leukemia 117 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 41 studies
Pseudoxanthoma elasticum 4 studies
Pterygium of the conjunctiva 20 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 3 studies
Pyropoikilocytosis 1 study
Pyrosis 57 studies
Q fever 1 study
Rabies 16 studies
Rasmussen encephalitis 2 studies
Rectal cancer 620 studies
Rectal neoplasm 619 studies
Recurrent respiratory papillomatosis 6 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 17 studies
Renal cancer 650 studies
Renal hypertension 6 studies
Renal osteodystrophy 13 studies
Respiratory distress syndrome, infant 5 studies
Retinal degeneration 449 studies
Retinitis pigmentosa-deafness syndrome 5 studies
Retinoblastoma 40 studies
Retinopathy of prematurity 25 studies
Retinoschisis 2 studies
Retroperitoneal fibrosis 1 study
Rett syndrome 11 studies
Rhabdoid tumor 39 studies
Rhabdomyosarcoma, embryonal 5 studies
Rheumatic Fever 6 studies
Richter syndrome 5 studies
Rickets 23 studies
Rickettsial disease 3 studies
Rickettsiosis 3 studies
Rod myopathy 1 study
Roussy Levy hereditary areflexic dystasia 42 studies
Rubella 41 studies
Salivary gland cancer, adult 1 study
Sandhoff disease 6 studies
Sarcoidosis 45 studies
Sarcoidosis, pulmonary 6 studies
SARS 56 studies
Scheuermann's disease 1 study
Schistosomiasis 14 studies
Scleroderma, diffuse 10 studies
Scott syndrome 1 study
Secondary pulmonary hypertension 11 studies
Seminoma 40 studies
Senior Loken Syndrome 1 study
Sensorineural hearing loss 23 studies
Septo-optic dysplasia 11 studies
Severe combined immunodeficiency 22 studies
Severe combined immunodeficiency, X-linked 5 studies
Severe congenital neutropenia 8 studies
Sezary syndrome 308 studies
Sharp syndrome 4 studies
Shigellosis 7 studies
Shwachman syndrome 5 studies
Shwachman-Diamond syndrome 5 studies
Sickle cell anemia 146 studies
Siderosis 2 studies
Silicosis 1 study
Single ventricular heart 16 studies
Sinus cancer 4 studies
Sitosterolemia 10 studies
Situs inversus viscerum 14 studies
Skeletal dysplasias 2 studies
Sly syndrome 1 study
Small non-cleaved cell lymphoma 220 studies
Smith-Magenis Syndrome 4 studies
Soft tissue sarcomas 628 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 29 studies
Spherocytosis 1 study
Sphingolipidosis 96 studies
Spielmeyer-Vogt disease 5 studies
Spina bifida 14 studies
Spinal cord neoplasm 33 studies
Spinal muscular atrophy 20 studies
Spinal shock 1 study
Splenomegaly 5 studies
Spondylarthritis 121 studies
Spondylarthropathies 118 studies
Spondylitis 74 studies
Spongiform encephalopathy 2 studies
Sporotrichosis 3 studies
Squamous cell carcinoma 652 studies
Status epilepticus 11 studies
Stevens-Johnson syndrome 2 studies
Stiff-person syndrome 3 studies
Still's disease 2 studies
Stomach cancer 396 studies
Storage pool platelet disease 5 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 X 101 studies
Synovial sarcoma 46 studies
Synovitis 15 studies
Syphilis 17 studies
Syringomyelia 3 studies
Systemic mastocytosis 12 studies
T cell immunodeficiency primary 13 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 8 studies
Temporal arteritis 11 studies
Testicular cancer 158 studies
Testotoxicosis 1 study
Tetanus 139 studies
Tetrahydrobiopterin deficiencies 3 studies
Thalassemia 95 studies
Thalassemia minor 39 studies
Thoracic outlet syndrome 1 study
Thrombasthenia 2 studies
Thrombasthenia of Glanzmann and Naegeli 2 studies
Thrombocytopathy 190 studies
Thrombocytopenic purpura, autoimmune 42 studies
Thrombotic thrombocytopenic purpura, acquired 9 studies
Thyroid cancer, anaplastic 24 studies
Thyroid cancer, follicular 33 studies
Thyroid cancer, medullary 45 studies
Thyroid cancer, papillary 38 studies
Thyrotropin deficiency, isolated 1 study
Tick-borne encephalitis 14 studies
Tomaculous neuropathy 42 studies
Tongue neoplasm 1 study
Torulopsis 34 studies
Toxic epidermal necrolysis 1 study
Toxocariasis 1 study
Tracheobronchomalacia 3 studies
Transitional cell carcinoma 145 studies
Transposition of great arteries 9 studies
Trichothiodystrophy 1 study
Trichotillomania 9 studies
Tricuspid atresia 4 studies
Trigeminal neuralgia 6 studies
Tropical Spastic Paraparesis 9 studies
Tropical sprue 1 study
Tuberculosis 238 studies
Tuberculosis, pulmonary 49 studies
Tuberculous meningitis 1 study
Tuberous sclerosis 13 studies
Tularemia 2 studies
Turner syndrome 30 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
Tyrosinemia 2 studies
Urea cycle disorders 9 studies
Urethral cancer 50 studies
Urinary tract neoplasm 776 studies
Urticaria pigmentosa 3 studies
Usher syndrome 5 studies
Usher syndrome, type 1 1 study
Uterine sarcoma 89 studies
Uveal melanoma 68 studies
VACTERL association 1 study
Vaginal cancer 46 studies
Varicella Zoster 19 studies
Vasopressin-resistant diabetes insipidus 2 studies
Velocardiofacial syndrome 15 studies
Velopharyngeal incompetence 1 study
Ventricular septal defects 15 studies
Vernal keratoconjunctivitis 6 studies
Viral hemorrhagic fever 30 studies
Virus associated hemophagocytic syndrome 2 studies
Vitamin D resistant rickets 4 studies
Vogt-Koyanagi-Harada syndrome 1 study
Von Gierke disease 8 studies
Von Hippel-Lindau syndrome 16 studies
Von Willebrand disease 24 studies
Von Willebrand disease, recessive form 2 studies
Vulvar cancer 47 studies
Vulvar Vestibulitis Syndrome 8 studies
WAGR syndrome 1 study
Waldenstrom macroglobulinemia 280 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 121 studies
Williams syndrome 3 studies
Wilms' tumor 108 studies
Wilson disease 4 studies
Wiskott Aldrich syndrome 13 studies
Wolff-Parkinson-White syndrome 1 study
Wolman disease 3 studies
X-linked adrenal hypoplasia congenita 1 study
X-linked adrenoleukodystrophy 27 studies
X-linked agammaglobulinemia 6 studies
X-linked lymphoproliferative syndrome 4 studies
X-linked mental retardation and macro-orchidism 9 studies
Xeroderma pigmentosum 6 studies
Yellow fever 8 studies
Zellweger syndrome 2 studies
Zollinger-Ellison syndrome 8 studies
5-Nucleotidase syndrome 1 study
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