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