more general categories |
information about this item |
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1. Human Genes |
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1. Human Genes |
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cytochrome P450, family 01, subfamily A, polypeptide 01 [HGNC:CYP1A1] (566) |
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cytochrome P450, family 01, subfamily A, polypeptide 02 [HGNC:CYP1A2] (466) |
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cytochrome P450, family 02, subfamily A, polypeptide 06 [HGNC:CYP2A6] (145) |
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cytochrome P450, family 02, subfamily B, polypeptide 06 [HGNC:CYP2B6] (216) |
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cytochrome P450, family 03, subfamily A, polypeptide 04 [HGNC:CYP3A4] (612) |
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interferon, gamma [HGNC:IFNG] (274) |
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interleukin 05 (colony-stimulating factor, eosinophil) [HGNC:IL5] (105) |
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nuclear receptor subfamily 1, group I, member 2 [HGNC:NR1I2] (328) |
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tumor necrosis factor [HGNC:TNF] (795) |
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2. Interaction: Human Genes and Chemicals |
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2. Interaction: Human Genes and Chemicals |
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binding (2423) |
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expression (2187) |
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reaction (3393) |
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activity (2865) |
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expression (3238) |
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4. Semantic Terms |
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4. Semantic Terms |
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Hazardous or Poisonous Substance [STY:T131] (590) |
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Organic Chemical [STY:T109] (44144) |
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A. Anatomy |
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A. Anatomy |
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Syndactyly, type 3 [MESH:C538154] (192) |
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Synpolydactyly 2 [MESH:C564278] (43) |
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Coffin-Siris syndrome [MESH:C536436] (102) |
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Frontometaphyseal dysplasia [MESH:C538064] (36) |
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Coffin-Siris syndrome [MESH:C536436] (102) |
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Rapadilino syndrome [MESH:C535288] (30) |
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Rapadilino syndrome [MESH:C535288] (30) |
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Craniosynostosis radial aplasia syndrome [MESH:C536788] (30) |
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Ulnar-mammary syndrome [MESH:C536937] (57) |
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Rapadilino syndrome [MESH:C535288] (30) |
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Rapadilino syndrome [MESH:C535288] (30) |
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Brain Small Vessel Disease with Hemorrhage [MESH:C564372] (77) |
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Exudative Vitreoretinopathy 5 [MESH:C567648] (24) |
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Brain Small Vessel Disease with Hemorrhage [MESH:C564372] (77) |
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Aortic Valve, Calcification of [MESH:C562942] (655) |
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Peters anomaly [MESH:C537884] (465) |
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Aortic Aneurysm, Familial Thoracic 6 [MESH:C567085] (221) |
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Exudative Vitreoretinopathy 5 [MESH:C567648] (24) |
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Basal Laminar Drusen [MESH:C563034] (52) |
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Aortic Aneurysm, Familial Thoracic 6 [MESH:C567085] (221) |
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Basal Laminar Drusen [MESH:C563034] (52) |
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Basal Laminar Drusen [MESH:C563034] (52) |
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Heinz Body Anemias [MESH:C563030] (127) |
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Heinz Body Anemias [MESH:C563030] (127) |
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Heinz Body Anemias [MESH:C563030] (127) |
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Mullerian Aplasia and Hyperandrogenism [MESH:C567186] (57) |
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C01. Bacterial Infections and Mycoses |
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C01. Bacterial Infections and Mycoses |
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Bacteremia [MESH:D016470] (208) |
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Chlamydia Infections [MESH:D002690] (1696) |
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Salmonella Infections, Animal [MESH:D012481] (604) |
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Legionnaires' Disease [MESH:D007877] (611) |
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Meningococcal Infections [MESH:D008589] (242) |
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Listeriosis [MESH:D008088] (1622) |
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Mycobacterium Infections, Nontuberculous [MESH:D009165] (480) |
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Paratuberculosis [MESH:D010283] (427) |
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Chlamydia Infections [MESH:D002690] (1693) |
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Arthritis, Infectious [MESH:D001170] (1702) |
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Appendicitis [MESH:D001064] (774) |
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Peritonitis [MESH:D010538] (800) |
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Bacteremia [MESH:D016470] (1369) |
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Shock, Septic [MESH:D012772] (1830) |
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Chlamydia Infections [MESH:D002690] (1693) |
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Candidiasis, Chronic Mucocutaneous [MESH:D002178] (224) |
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Candidiasis, Chronic Mucocutaneous [MESH:D002178] (224) |
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Candidiasis, Chronic Mucocutaneous [MESH:D002178] (224) |
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C02. Virus Diseases |
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C02. Virus Diseases |
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Hepatitis B, Chronic [MESH:D019694] (277) |
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Cytomegalovirus Infections [MESH:D003586] (222) |
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Burkitt Lymphoma [MESH:D002051] (691) |
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Hepatitis C [MESH:D006526] (1627) |
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Hepatitis B, Chronic [MESH:D019694] (277) |
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Hepatitis C [MESH:D006526] (1627) |
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Respiratory Syncytial Virus Infections [MESH:D018357] (852) |
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Influenza, Human [MESH:D007251] (1075) |
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Cardiovirus Infections [MESH:D018188] (1548) |
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Acquired Immunodeficiency Syndrome [MESH:D000163] (743) |
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HIV Wasting Syndrome [MESH:D019247] (1956) |
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Acquired Immunodeficiency Syndrome [MESH:D000163] (743) |
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HIV Wasting Syndrome [MESH:D019247] (1956) |
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Acquired Immunodeficiency Syndrome [MESH:D000163] (743) |
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Burkitt Lymphoma [MESH:D002051] (691) |
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C03. Parasitic Diseases |
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C03. Parasitic Diseases |
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Liver Diseases, Parasitic [MESH:D008109] (1009) |
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Trichuriasis [MESH:D014257] (805) |
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Opisthorchiasis [MESH:D009889] (160) |
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Schistosomiasis [MESH:D012552] (1073) |
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Entamoebiasis [MESH:D004749] (1689) |
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Leishmaniasis, Visceral [MESH:D007898] (2149) |
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Leishmaniasis, Mucocutaneous [MESH:D007897] (606) |
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Malaria, Falciparum [MESH:D016778] (438) |
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Leishmaniasis, Mucocutaneous [MESH:D007897] (606) |
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C04. Neoplasms |
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C04. Neoplasms |
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Neoplasms, Second Primary [MESH:D016609] (518) |
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Follicular Cyst [MESH:D005497] (151) |
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Chudley-Mccullough syndrome [MESH:C535459] (45) |
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Polycystic Ovary Syndrome [MESH:D011085] (2186) |
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Tuberous Sclerosis [MESH:D014402] (635) |
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Leukemia, Lymphocytic, Chronic, B-Cell [MESH:D015451] (2562) |
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Leukemia-Lymphoma, Adult T-Cell [MESH:D015459] (138) |
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Precursor T-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054218] (510) |
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Leukemia, Myelogenous, Chronic, BCR-ABL Positive [MESH:D015464] (1032) |
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Leukemia, Myelomonocytic, Acute [MESH:D015479] (85) |
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Leukemia, Myelomonocytic, Juvenile [MESH:D054429] (344) |
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Leukemia, Promyelocytic, Acute [MESH:D015473] (1367) |
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Hodgkin Disease [MESH:D006689] (1082) |
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Burkitt Lymphoma [MESH:D002051] (691) |
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Lymphoma, Large-Cell, Anaplastic [MESH:D017728] (420) |
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Lymphoma, Mantle-Cell [MESH:D020522] (561) |
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Burkitt Lymphoma [MESH:D002051] (691) |
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Lymphoma, Large B-Cell, Diffuse [MESH:D016403] (2012) |
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Lymphoma, Large-Cell, Anaplastic [MESH:D017728] (420) |
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Lymphoma, T-Cell, Cutaneous [MESH:D016410] (912) |
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Hepatoblastoma [MESH:D018197] (548) |
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Mixed Tumor, Mullerian [MESH:D018200] (64) |
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Denys-Drash Syndrome [MESH:D030321] (57) |
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WAGR Syndrome [MESH:D017624] (270) |
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Gastrointestinal Stromal Tumors [MESH:D046152] (170) |
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Metachondromatosis [MESH:C562938] (49) |
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Chondrosarcoma, Mesenchymal [MESH:D018211] (1161) |
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Cardiac valvular dysplasia, X-linked [MESH:C535576] (36) |
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Osteosarcoma [MESH:D012516] (2175) |
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Metachondromatosis [MESH:C562938] (49) |
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Fibromatosis, Aggressive [MESH:D018222] (1562) |
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Leiomyoma [MESH:D007889] (744) |
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Smooth Muscle Tumor [MESH:D018235] (132) |
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Rhabdomyosarcoma, Embryonal [MESH:D018233] (98) |
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Hemangiosarcoma [MESH:D006394] (1836) |
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Osteosarcoma [MESH:D012516] (2175) |
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Chondrosarcoma, Mesenchymal [MESH:D018211] (1161) |
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Rhabdomyosarcoma, Embryonal [MESH:D018233] (98) |
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Gliosarcoma [MESH:D018316] (880) |
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Medulloblastoma [MESH:D008527] (1282) |
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Oligodendroglioma [MESH:D009837] (241) |
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Glioblastoma [MESH:D005909] (2554) |
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Medulloblastoma [MESH:D008527] (1282) |
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Neuroblastoma [MESH:D009447] (1420) |
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Melanoma [MESH:D008545] (3508) |
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Carcinoma, Medullary [MESH:D018276] (181) |
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Pheochromocytoma [MESH:D010673] (275) |
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Adenoma, Liver Cell [MESH:D018248] (685) |
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Mesothelioma [MESH:D008654] (2567) |
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Oncocytoma, renal [MESH:C537750] (35) |
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Pancreatic cancer, adult [MESH:C535836] (572) |
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Carcinoma, Basal Cell [MESH:D002280] (1628) |
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Carcinoma, Large Cell [MESH:D018287] (211) |
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Carcinoma, Small Cell [MESH:D018288] (1317) |
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Carcinoma, Transitional Cell [MESH:D002295] (2662) |
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Adenocarcinoma of lung [MESH:C538231] (1487) |
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Carcinoma, Adenoid Cystic [MESH:D003528] (1561) |
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Carcinoma, Hepatocellular [MESH:D006528] (5375) |
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Carcinoma, Intraductal, Noninfiltrating [MESH:D002285] (500) |
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Carcinoma, Renal Cell [MESH:D002292] (2975) |
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Thyroid cancer, follicular [MESH:C572845] (674) |
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Carcinoma, Ductal, Breast [MESH:D018270] (1112) |
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Carcinoma, Pancreatic Ductal [MESH:D021441] (1056) |
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Carcinoma, Medullary [MESH:D018276] (181) |
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Prostatic Intraepithelial Neoplasia [MESH:D019048] (1565) |
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Carcinoma, squamous cell of head and neck [MESH:C535575] (1543) |
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Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396) |
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Carcinoma, Basal Cell [MESH:D002280] (1628) |
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Pilomatrixoma [MESH:D018296] (252) |
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Carcinoma, Intraductal, Noninfiltrating [MESH:D002285] (500) |
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Carcinoma, Medullary [MESH:D018276] (181) |
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Carcinoma, Ductal, Breast [MESH:D018270] (1112) |
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Carcinoma, Pancreatic Ductal [MESH:D021441] (1056) |
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Mesothelioma [MESH:D008654] (2567) |
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Gliosarcoma [MESH:D018316] (880) |
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Medulloblastoma [MESH:D008527] (1282) |
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Oligodendroglioma [MESH:D009837] (241) |
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Glioblastoma [MESH:D005909] (2554) |
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Medulloblastoma [MESH:D008527] (1282) |
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Neuroblastoma [MESH:D009447] (1420) |
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Papilloma [MESH:D010212] (2243) |
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Carcinoma, squamous cell of head and neck [MESH:C535575] (1543) |
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Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396) |
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Meningioma, familial [MESH:C537443] (195) |
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Gliosarcoma [MESH:D018316] (880) |
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Medulloblastoma [MESH:D008527] (1282) |
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Oligodendroglioma [MESH:D009837] (241) |
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Glioblastoma [MESH:D005909] (2554) |
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Medulloblastoma [MESH:D008527] (1282) |
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Neuroblastoma [MESH:D009447] (1420) |
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Melanoma [MESH:D008545] (3508) |
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Carcinoma, Medullary [MESH:D018276] (181) |
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Pheochromocytoma [MESH:D010673] (275) |
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Multiple Myeloma [MESH:D009101] (2767) |
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Hemangiosarcoma [MESH:D006394] (1836) |
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Hemangioblastoma [MESH:D018325] (395) |
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Meningioma, familial [MESH:C537443] (195) |
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Melanoma [MESH:D008545] (3508) |
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Soft Tissue Neoplasms [MESH:D012983] (2003) |
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Metachondromatosis [MESH:C562938] (49) |
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Breast Neoplasms, Male [MESH:D018567] (650) |
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Carcinoma, Ductal, Breast [MESH:D018270] (1112) |
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Gallbladder Neoplasms [MESH:D005706] (993) |
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Stomach Neoplasms [MESH:D013274] (4942) |
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Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396) |
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Cecal Neoplasms [MESH:D002430] (822) |
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Colonic Neoplasms [MESH:D003110] (4405) |
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Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258) |
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Adenoma, Liver Cell [MESH:D018248] (685) |
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Carcinoma, Hepatocellular [MESH:D006528] (5375) |
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Liver Neoplasms, Experimental [MESH:D008114] (2837) |
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Pancreatic cancer, adult [MESH:C535836] (572) |
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Carcinoma, Pancreatic Ductal [MESH:D021441] (1056) |
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Adrenal Gland Neoplasms [MESH:D000310] (917) |
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Ovarian Neoplasms [MESH:D010051] (3275) |
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Thyroid Neoplasms [MESH:D013964] (2040) |
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Pancreatic cancer, adult [MESH:C535836] (572) |
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Carcinoma, Pancreatic Ductal [MESH:D021441] (1056) |
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Carcinoma, squamous cell of head and neck [MESH:C535575] (1543) |
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Thyroid Neoplasms [MESH:D013964] (2040) |
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Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396) |
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Salivary Gland Neoplasms [MESH:D012468] (968) |
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Tongue Neoplasms [MESH:D014062] (1518) |
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Laryngeal Neoplasms [MESH:D007822] (68) |
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Nasopharyngeal Neoplasms [MESH:D009303] (1500) |
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Mammary Neoplasms, Experimental [MESH:D008325] (3268) |
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Chudley-Mccullough syndrome [MESH:C535459] (45) |
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Meningioma, familial [MESH:C537443] (195) |
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Dermatopathia pigmentosa reticularis [MESH:C535374] (38) |
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Adenocarcinoma of lung [MESH:C538231] (1487) |
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Carcinoma, Non-Small-Cell Lung [MESH:D002289] (3540) |
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Small Cell Lung Carcinoma [MESH:D055752] (1380) |
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Endometrial Neoplasms [MESH:D016889] (1987) |
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Prostate cancer, familial [MESH:C537243] (264) |
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Ureteral Neoplasms [MESH:D014516] (574) |
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Urinary Bladder Neoplasms [MESH:D001749] (4079) |
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Oncocytoma, renal [MESH:C537750] (35) |
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Carcinoma, Renal Cell [MESH:D002292] (2975) |
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Denys-Drash Syndrome [MESH:D030321] (57) |
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WAGR Syndrome [MESH:D017624] (270) |
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Liver Neoplasms, Experimental [MESH:D008114] (2837) |
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Mammary Neoplasms, Experimental [MESH:D008325] (3268) |
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Burkitt Lymphoma [MESH:D002051] (691) |
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Tuberous Sclerosis [MESH:D014402] (635) |
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Neoplasm Invasiveness [MESH:D009361] (3388) |
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Neoplasm Recurrence, Local [MESH:D009364] (1949) |
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Cell Transformation, Neoplastic [MESH:D002471] (3389) |
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Lymphatic Metastasis [MESH:D008207] (917) |
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Meningioma, familial [MESH:C537443] (195) |
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Birt-Hogg-Dube Syndrome [MESH:D058249] (35) |
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Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (260) |
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Li-Fraumeni Syndrome [MESH:D016864] (859) |
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Tuberous Sclerosis [MESH:D014402] (635) |
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Metachondromatosis [MESH:C562938] (49) |
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Denys-Drash Syndrome [MESH:D030321] (57) |
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WAGR Syndrome [MESH:D017624] (270) |
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Aberrant Crypt Foci [MESH:D058739] (326) |
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Burkitt Lymphoma [MESH:D002051] (691) |
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C05. Musculoskeletal Diseases |
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C05. Musculoskeletal Diseases |
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Osteitis Deformans [MESH:D010001] (287) |
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Osteoarthropathy, Primary Hypertrophic [MESH:D010004] (94) |
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Acromesomelic dysplasia, Maroteaux type [MESH:C535661] (29) |
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Marfan Syndrome [MESH:D008382] (646) |
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Rapadilino syndrome [MESH:C535288] (30) |
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Parastremmatic dwarfism [MESH:C537172] (39) |
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Metatropic dwarfism [MESH:C537356] (39) |
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Congenital Hypothyroidism [MESH:D003409] (266) |
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Laron Syndrome [MESH:D046150] (91) |
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Short Stature, Idiopathic, Autosomal [MESH:C565805] (194) |
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Focal Dermal Hypoplasia [MESH:D005489] (22) |
|
|
Rubinstein-Taybi Syndrome [MESH:D012415] (149) |
|
|
Hallermann's Syndrome [MESH:D006210] (193) |
|
|
|
|
|
Craniosynostosis radial aplasia syndrome [MESH:C536788] (30) |
|
|
Syndactyly, type 3 [MESH:C538154] (192) |
|
|
Oculodentodigital Dysplasia [MESH:C563160] (192) |
|
|
Oculodentodigital Dysplasia, Autosomal Recessive [MESH:C567605] (192) |
|
|
Pierre Robin syndrome with fetal chondrodysplasia [MESH:C535776] (16) |
|
|
Spondyloenchondrodysplasia [MESH:C535782] (71) |
|
|
Spondylometaphyseal dysplasia, Kozlowski type [MESH:C535797] (118) |
|
|
Oto-Palato-digital syndrome type 1 [MESH:C536065] (46) |
|
|
Metatropic dwarfism [MESH:C537356] (39) |
|
|
Frontometaphyseal dysplasia [MESH:C538064] (36) |
|
|
Oto-palato-digital syndrome, type 2 [MESH:C538089] (36) |
|
|
Brachyolmia Type 3 [MESH:C562963] (39) |
|
|
Enchondromatosis [MESH:D004687] (170) |
|
|
Hyperostosis, Cortical, Congenital [MESH:D006958] (392) |
|
|
|
|
|
|
|
|
Metachondromatosis [MESH:C562938] (49) |
|
|
Osteogenesis imperfecta, type 2A [MESH:C536042] (375) |
|
|
Osteogenesis imperfecta, type 3 [MESH:C536044] (375) |
|
|
Osteogenesis imperfecta, type 4 [MESH:C536045] (375) |
|
|
Congenital Hypothyroidism [MESH:D003409] (266) |
|
|
Short Stature, Idiopathic, Autosomal [MESH:C565805] (194) |
|
|
|
|
|
Neuraminidase 1 deficiency [MESH:C537366] (31) |
|
|
Osteoporosis, Postmenopausal [MESH:D015663] (2351) |
|
|
Metachondromatosis [MESH:C562938] (49) |
|
|
Alveolar Bone Loss [MESH:D016301] (220) |
|
|
Osteolysis [MESH:D010014] (1787) |
|
|
Hyperostosis, Cortical, Congenital [MESH:D006958] (392) |
|
|
|
|
|
Metachondromatosis [MESH:C562938] (49) |
|
|
|
|
|
Intervertebral disc disease [MESH:C535531] (514) |
|
|
Intervertebral disc disease [MESH:C535531] (514) |
|
|
Ossification of the posterior longitudinal ligament of the spine [MESH:C537143] (98) |
|
|
|
|
|
Parastremmatic dwarfism [MESH:C537172] (39) |
|
|
Parastremmatic dwarfism [MESH:C537172] (39) |
|
|
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis [MESH:C567770] (35) |
|
|
|
|
|
|
|
|
Arthritis, Psoriatic [MESH:D015535] (1859) |
|
|
Spondylitis, Ankylosing [MESH:D013167] (431) |
|
|
Keutel syndrome [MESH:C536167] (102) |
|
|
|
|
|
Oculodentodigital Dysplasia [MESH:C563160] (192) |
|
|
Synpolydactyly 2 [MESH:C564278] (43) |
|
|
|
|
|
Oto-Palato-digital syndrome type 1 [MESH:C536065] (46) |
|
|
Keutel syndrome [MESH:C536167] (102) |
|
|
Coffin-Siris syndrome [MESH:C536436] (102) |
|
|
Oto-palato-digital syndrome, type 2 [MESH:C538089] (36) |
|
|
Synpolydactyly 2 [MESH:C564278] (43) |
|
|
|
|
|
Cleft Palate [MESH:D002972] (1330) |
|
|
Coffin-Siris syndrome [MESH:C536436] (102) |
|
|
Pierre Robin syndrome with fetal chondrodysplasia [MESH:C535776] (16) |
|
|
Osteoarthropathy, Primary Hypertrophic [MESH:D010004] (94) |
|
|
Spondylitis, Ankylosing [MESH:D013167] (431) |
|
|
Stickler syndrome, type 3 [MESH:C537494] (16) |
|
|
Arthritis, Experimental [MESH:D001169] (3142) |
|
|
Arthritis, Infectious [MESH:D001170] (1702) |
|
|
Arthritis, Psoriatic [MESH:D015535] (1859) |
|
|
Arthritis, Rheumatoid [MESH:D001172] (3603) |
|
|
Osteoarthritis [MESH:D010003] (1743) |
|
|
|
|
|
Arthritis, Psoriatic [MESH:D015535] (1859) |
|
|
Spondylitis, Ankylosing [MESH:D013167] (431) |
|
|
Distal arthrogryposis type 2B [MESH:C538400] (85) |
|
|
Bethlem myopathy [MESH:C535436] (108) |
|
|
Carnitine Palmitoyltransferase II Deficiency, Late-Onset [MESH:C563461] (52) |
|
|
Alpha-B Crystallinopathy [MESH:C563848] (135) |
|
|
Neutral Lipid Storage Disease with Myopathy [MESH:C565192] (58) |
|
|
Myopathy, Reducing Body, X-Linked, Childhood-Onset [MESH:C567468] (64) |
|
|
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe [MESH:C567469] (64) |
|
|
Distal arthrogryposis type 2B [MESH:C538400] (85) |
|
|
Bethlem myopathy [MESH:C535436] (108) |
|
|
|
|
|
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 [MESH:C563750] (56) |
|
|
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps [MESH:C567088] (77) |
|
|
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of [MESH:C567006] (27) |
|
|
|
|
|
Bethlem myopathy [MESH:C535436] (108) |
|
|
Scleroatonic muscular dystrophy [MESH:C537521] (108) |
|
|
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency [MESH:C567709] (41) |
|
|
Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854) |
|
|
Muscular Dystrophy, Oculopharyngeal [MESH:D039141] (32) |
|
|
Myopathy, X-Linked, With Postural Muscle Atrophy [MESH:C567480] (64) |
|
|
Scapuloperoneal Myopathy, X-Linked Dominant [MESH:C567481] (64) |
|
|
Dystrophia myotonica 1 [MESH:C538008] (25) |
|
|
Myosclerosis, Autosomal Recessive [MESH:C564968] (45) |
|
|
Nemaline myopathy 4 [MESH:C538351] (47) |
|
|
Nemaline Myopathy 7 [MESH:C565198] (21) |
|
|
Dermatomyositis [MESH:D003882] (1826) |
|
|
Dermatomyositis [MESH:D003882] (1826) |
|
|
|
|
|
Dystrophia myotonica 1 [MESH:C538008] (25) |
|
|
Campomelic Dysplasia [MESH:D055036] (75) |
|
|
Distal arthrogryposis type 2B [MESH:C538400] (85) |
|
|
Oto-Palato-digital syndrome type 1 [MESH:C536065] (46) |
|
|
Oto-palato-digital syndrome, type 2 [MESH:C538089] (36) |
|
|
Oculodentodigital Dysplasia [MESH:C563160] (192) |
|
|
Oculodentodigital Dysplasia, Autosomal Recessive [MESH:C567605] (192) |
|
|
Costello Syndrome [MESH:D056685] (407) |
|
|
LEOPARD Syndrome [MESH:D044542] (299) |
|
|
Microcephaly [MESH:D008831] (700) |
|
|
Noonan Syndrome [MESH:D009634] (506) |
|
|
Rubinstein-Taybi Syndrome [MESH:D012415] (149) |
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Hallermann's Syndrome [MESH:D006210] (193) |
|
|
Craniosynostosis radial aplasia syndrome [MESH:C536788] (30) |
|
|
Aortic aneurysm, familial thoracic 3 [MESH:C537783] (107) |
|
|
Loeys-Dietz Syndrome, Type 1b [MESH:C567181] (107) |
|
|
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy [MESH:C567020] (21) |
|
|
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis [MESH:C567770] (35) |
|
|
|
|
|
Cleft Palate [MESH:D002972] (1330) |
|
|
Coffin-Siris syndrome [MESH:C536436] (102) |
|
|
Pierre Robin syndrome with fetal chondrodysplasia [MESH:C535776] (16) |
|
|
|
|
|
Craniosynostosis radial aplasia syndrome [MESH:C536788] (30) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
|
|
|
Oculodentodigital Dysplasia [MESH:C563160] (192) |
|
|
Synpolydactyly 2 [MESH:C564278] (43) |
|
|
Synpolydactyly 2 [MESH:C564278] (43) |
|
|
Syndactyly, type 3 [MESH:C538154] (192) |
|
|
Oculodentodigital Dysplasia [MESH:C563160] (192) |
|
|
Oculodentodigital Dysplasia, Autosomal Recessive [MESH:C567605] (192) |
|
|
|
|
|
Oto-Palato-digital syndrome type 1 [MESH:C536065] (46) |
|
|
Keutel syndrome [MESH:C536167] (102) |
|
|
Coffin-Siris syndrome [MESH:C536436] (102) |
|
|
Oto-palato-digital syndrome, type 2 [MESH:C538089] (36) |
|
|
Synpolydactyly 2 [MESH:C564278] (43) |
|
|
|
|
|
Craniosynostosis radial aplasia syndrome [MESH:C536788] (30) |
|
|
Syndactyly, type 3 [MESH:C538154] (192) |
|
|
Oculodentodigital Dysplasia [MESH:C563160] (192) |
|
|
Oculodentodigital Dysplasia, Autosomal Recessive [MESH:C567605] (192) |
|
|
Arthritis, Rheumatoid [MESH:D001172] (3603) |
|
|
Osteoarthritis [MESH:D010003] (1743) |
|
 |
C06. Digestive System Diseases |
 |
 |
|
C06. Digestive System Diseases |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Liver Cirrhosis, Biliary [MESH:D008105] (1274) |
|
|
Gallbladder Neoplasms [MESH:D005706] (993) |
|
|
Gallbladder Neoplasms [MESH:D005706] (993) |
|
|
Barrett Esophagus [MESH:D001471] (1930) |
|
|
Hirschsprung Disease [MESH:D006627] (361) |
|
|
Opitz-Kaveggia syndrome [MESH:C537923] (64) |
|
|
|
|
|
Gallbladder Neoplasms [MESH:D005706] (993) |
|
|
Gastrointestinal Stromal Tumors [MESH:D046152] (170) |
|
|
Stomach Neoplasms [MESH:D013274] (4942) |
|
|
Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396) |
|
|
Cecal Neoplasms [MESH:D002430] (822) |
|
|
Colonic Neoplasms [MESH:D003110] (4405) |
|
|
Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258) |
|
|
Adenoma, Liver Cell [MESH:D018248] (685) |
|
|
Carcinoma, Hepatocellular [MESH:D006528] (5375) |
|
|
Liver Neoplasms, Experimental [MESH:D008114] (2837) |
|
|
Pancreatic cancer, adult [MESH:C535836] (572) |
|
|
Carcinoma, Pancreatic Ductal [MESH:D021441] (1056) |
|
|
|
|
|
Barrett Esophagus [MESH:D001471] (1930) |
|
|
Deglutition Disorders [MESH:D003680] (1538) |
|
|
Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396) |
|
|
Appendicitis [MESH:D001064] (774) |
|
|
Colitis, Ulcerative [MESH:D003093] (2601) |
|
|
Enterocolitis, Necrotizing [MESH:D020345] (1367) |
|
|
Colitis, Ulcerative [MESH:D003093] (2601) |
|
|
Crohn Disease [MESH:D003424] (2585) |
|
|
Gastrointestinal Stromal Tumors [MESH:D046152] (170) |
|
|
Stomach Neoplasms [MESH:D013274] (4942) |
|
|
Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396) |
|
|
Cecal Neoplasms [MESH:D002430] (822) |
|
|
Colonic Neoplasms [MESH:D003110] (4405) |
|
|
Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258) |
|
|
|
|
|
Appendicitis [MESH:D001064] (774) |
|
|
Cecal Neoplasms [MESH:D002430] (822) |
|
|
|
|
|
Colitis, Ulcerative [MESH:D003093] (2601) |
|
|
Colonic Neoplasms [MESH:D003110] (4405) |
|
|
Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258) |
|
|
Hirschsprung Disease [MESH:D006627] (361) |
|
|
Enterocolitis, Necrotizing [MESH:D020345] (1367) |
|
|
Colitis, Ulcerative [MESH:D003093] (2601) |
|
|
Crohn Disease [MESH:D003424] (2585) |
|
|
Cecal Neoplasms [MESH:D002430] (822) |
|
|
Colonic Neoplasms [MESH:D003110] (4405) |
|
|
Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258) |
|
|
|
|
|
|
|
|
Congenital idiopathic intestinal pseudoobstruction [MESH:C535532] (36) |
|
|
Chylomicron retention disease [MESH:C535460] (23) |
|
|
Celiac Disease [MESH:D002446] (340) |
|
|
Colorectal Neoplasms [MESH:D015179] (4534) |
|
|
Stomach Ulcer [MESH:D013276] (2915) |
|
|
Stomach Neoplasms [MESH:D013274] (4942) |
|
|
Stomach Ulcer [MESH:D013276] (2915) |
|
|
Carnitine Palmitoyltransferase II Deficiency, Infantile [MESH:C563462] (52) |
|
|
Drug-Induced Liver Injury [MESH:D056486] (4936) |
|
|
Hepatolenticular Degeneration [MESH:D006527] (473) |
|
|
Hepatomegaly [MESH:D006529] (1169) |
|
|
Liver Diseases, Parasitic [MESH:D008109] (1009) |
|
|
Zellweger Syndrome [MESH:D015211] (182) |
|
|
Liver Cirrhosis, Biliary [MESH:D008105] (1274) |
|
|
Non-alcoholic Fatty Liver Disease [MESH:C541083] (1567) |
|
|
|
|
|
Hepatic Encephalopathy [MESH:D006501] (1795) |
|
|
Liver Failure, Acute [MESH:D017114] (2404) |
|
|
Hepatitis, Alcoholic [MESH:D006519] (1613) |
|
|
Hepatitis, Autoimmune [MESH:D019693] (1982) |
|
|
Hepatitis B, Chronic [MESH:D019694] (277) |
|
|
Hepatitis C [MESH:D006526] (1627) |
|
|
Hepatitis B, Chronic [MESH:D019694] (277) |
|
|
Cirrhosis, Familial [MESH:C566123] (179) |
|
|
Liver Cirrhosis, Alcoholic [MESH:D008104] (3066) |
|
|
Liver Cirrhosis, Biliary [MESH:D008105] (1274) |
|
|
Liver Cirrhosis, Experimental [MESH:D008106] (4589) |
|
|
Hepatitis, Alcoholic [MESH:D006519] (1613) |
|
|
Liver Cirrhosis, Alcoholic [MESH:D008104] (3066) |
|
|
Adenoma, Liver Cell [MESH:D018248] (685) |
|
|
Carcinoma, Hepatocellular [MESH:D006528] (5375) |
|
|
Liver Neoplasms, Experimental [MESH:D008114] (2837) |
|
|
Porphyria Cutanea Tarda [MESH:D017119] (766) |
|
|
|
|
|
Pancreatic cancer, adult [MESH:C535836] (572) |
|
|
Carcinoma, Pancreatic Ductal [MESH:D021441] (1056) |
|
|
Pancreatitis, Chronic [MESH:D050500] (276) |
|
|
Peritonitis [MESH:D010538] (800) |
|
 |
C07. Stomatognathic Diseases |
 |
 |
|
C07. Stomatognathic Diseases |
|
|
|
|
|
|
|
|
|
|
|
PCI 5002 [MESH:C568608] (527) |
|
|
Coffin-Siris syndrome [MESH:C536436] (102) |
|
|
Pierre Robin syndrome with fetal chondrodysplasia [MESH:C535776] (16) |
|
|
Stevenson-Carey Syndrome [MESH:C567446] (44) |
|
|
Behcet Syndrome [MESH:D001528] (1784) |
|
|
Oral Submucous Fibrosis [MESH:D009914] (2432) |
|
|
|
|
|
Opitz GBBB Syndrome, X-Linked [MESH:C567932] (535) |
|
|
|
|
|
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia [MESH:C566352] (437) |
|
|
Orstavik Lindemann Solberg syndrome [MESH:C537137] (668) |
|
|
|
|
|
Alveolar Bone Loss [MESH:D016301] (220) |
|
|
Chronic Periodontitis [MESH:D055113] (231) |
|
|
|
|
|
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia [MESH:C566352] (437) |
|
|
|
|
|
Orstavik Lindemann Solberg syndrome [MESH:C537137] (668) |
|
|
|
|
|
|
|
|
Nasopharyngeal teratoma with Dandy Walker diaphragmatic hernia [MESH:C538340] (365) |
|
|
|
|
|
Nasopharyngeal teratoma with Dandy Walker diaphragmatic hernia [MESH:C538340] (365) |
|
|
|
|
|
|
|
|
|
|
|
Opitz GBBB Syndrome, X-Linked [MESH:C567932] (535) |
|
|
Coffin-Siris syndrome [MESH:C536436] (102) |
|
|
Pierre Robin syndrome with fetal chondrodysplasia [MESH:C535776] (16) |
|
|
Stevenson-Carey Syndrome [MESH:C567446] (44) |
|
|
|
|
|
Opitz GBBB Syndrome, X-Linked [MESH:C567932] (535) |
|
|
Oculodentodigital Dysplasia [MESH:C563160] (192) |
|
|
Oculodentodigital Dysplasia, Autosomal Recessive [MESH:C567605] (192) |
|
|
Tooth Agenesis, Selective, 6 [MESH:C567755] (154) |
|
|
|
|
|
Oculodentodigital Dysplasia [MESH:C563160] (192) |
|
|
Oculodentodigital Dysplasia, Autosomal Recessive [MESH:C567605] (192) |
|
|
Tooth Agenesis, Selective, 6 [MESH:C567755] (154) |
|
 |
C08. Respiratory Tract Diseases |
 |
 |
|
C08. Respiratory Tract Diseases |
|
|
Not Fully Specified [NFS] (1984) |
|
|
Respiratory System Abnormalities [MESH:D015619] (243) |
|
|
Bronchial Hyperreactivity [MESH:D016535] (1357) |
|
|
Bronchiectasis [MESH:D001987] (1792) |
|
|
|
|
|
Asthma, Nasal Polyps, And Aspirin Intolerance [MESH:C565935] (80) |
|
|
|
|
|
Bronchiolitis Obliterans [MESH:D001989] (611) |
|
|
Laryngeal Neoplasms [MESH:D007822] (68) |
|
|
Pneumonia [MESH:D011014] (3482) |
|
|
Pulmonary Edema [MESH:D011654] (2109) |
|
|
Pulmonary Embolism [MESH:D011655] (1118) |
|
|
Pulmonary Fibrosis [MESH:D011658] (3140) |
|
|
Respiratory Distress Syndrome, Newborn [MESH:D012127] (169) |
|
|
|
|
|
Anthracosis [MESH:D055008] (1805) |
|
|
Berylliosis [MESH:D001607] (2005) |
|
|
Silicosis [MESH:D012829] (1273) |
|
|
Asthma [MESH:D001249] (3903) |
|
|
|
|
|
Bronchiolitis Obliterans [MESH:D001989] (611) |
|
|
Pulmonary Emphysema [MESH:D011656] (1259) |
|
|
Acute Lung Injury [MESH:D055371] (1907) |
|
|
Anthracosis [MESH:D055008] (1805) |
|
|
Berylliosis [MESH:D001607] (2005) |
|
|
Silicosis [MESH:D012829] (1273) |
|
|
Adenocarcinoma of lung [MESH:C538231] (1487) |
|
|
Carcinoma, Non-Small-Cell Lung [MESH:D002289] (3540) |
|
|
Small Cell Lung Carcinoma [MESH:D055752] (1380) |
|
|
|
|
|
Asthma, Nasal Polyps, And Aspirin Intolerance [MESH:C565935] (80) |
|
|
Pleurisy [MESH:D010998] (2070) |
|
|
Pneumothorax, Primary Spontaneous [MESH:C566795] (35) |
|
|
Hyperventilation [MESH:D006985] (654) |
|
|
Respiratory Distress Syndrome, Newborn [MESH:D012127] (169) |
|
|
Ige Responsiveness, Atopic [MESH:C564133] (267) |
|
|
|
|
|
Asthma, Nasal Polyps, And Aspirin Intolerance [MESH:C565935] (80) |
|
|
Influenza, Human [MESH:D007251] (1075) |
|
|
Pleurisy [MESH:D010998] (2070) |
|
|
Pneumonia [MESH:D011014] (3482) |
|
|
Legionnaires' Disease [MESH:D007877] (611) |
|
|
Laryngeal Neoplasms [MESH:D007822] (68) |
|
|
Adenocarcinoma of lung [MESH:C538231] (1487) |
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|
|
Carcinoma, Non-Small-Cell Lung [MESH:D002289] (3540) |
|
|
Small Cell Lung Carcinoma [MESH:D055752] (1380) |
|
 |
C09. Otorhinolaryngologic Diseases |
 |
 |
|
C09. Otorhinolaryngologic Diseases |
|
|
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|
|
|
|
|
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|
|
|
Chudley-Mccullough syndrome [MESH:C535459] (45) |
|
|
Corneal dystrophy and perceptive deafness [MESH:C535473] (17) |
|
|
Barakat syndrome [MESH:C537907] (71) |
|
|
Deafness, Autosomal Recessive 53 [MESH:C566453] (16) |
|
|
Deafness, Autosomal Recessive 42 [MESH:C566460] (11) |
|
|
Deafness, Autosomal Dominant 13 [MESH:C566612] (16) |
|
|
Deafness, Autosomal Recessive 1A [MESH:C567134] (88) |
|
|
Deafness, Autosomal Recessive 1b [MESH:C567213] (18) |
|
|
Deafness, Autosomal Dominant 3B [MESH:C567215] (18) |
|
|
Deafness, Autosomal Dominant 3A [MESH:C567277] (77) |
|
|
Vestibular Diseases [MESH:D015837] (819) |
|
|
Laryngeal Neoplasms [MESH:D007822] (68) |
|
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|
|
Asthma, Nasal Polyps, And Aspirin Intolerance [MESH:C565935] (80) |
|
|
Laryngeal Neoplasms [MESH:D007822] (68) |
|
|
Nasopharyngeal Neoplasms [MESH:D009303] (1500) |
|
|
Deglutition Disorders [MESH:D003680] (108) |
|
|
Nasopharyngeal Neoplasms [MESH:D009303] (1500) |
|
|
Nasopharyngeal Neoplasms [MESH:D009303] (1500) |
|
 |
C10. Nervous System Diseases |
 |
 |
|
C10. Nervous System Diseases |
|
|
Not Fully Specified [NFS] (4027) |
|
|
Chronobiology Disorders [MESH:D021081] (970) |
|
|
Restless Legs Syndrome [MESH:D012148] (379) |
|
|
Myasthenia Gravis [MESH:D009157] (632) |
|
|
|
|
|
Multiple Sclerosis, Relapsing-Remitting [MESH:D020529] (170) |
|
|
Encephalomyelitis, Autoimmune, Experimental [MESH:D004681] (806) |
|
|
|
|
|
Neuropathy, Hereditary Sensory And Autonomic, Type IIB [MESH:C567738] (28) |
|
|
Endocrine-Cerebroosteodysplasia [MESH:C567210] (26) |
|
|
Familial porencephaly [MESH:C536850] (77) |
|
|
Brain Edema [MESH:D001929] (1165) |
|
|
Brain Injuries [MESH:D001930] (3429) |
|
|
Hypoxia, Brain [MESH:D002534] (134) |
|
|
Hepatolenticular Degeneration [MESH:D006527] (473) |
|
|
Huntington Disease [MESH:D006816] (540) |
|
|
Parkinson Disease [MESH:D010300] (3595) |
|
|
Parkinson Disease, Secondary [MESH:D010302] (327) |
|
|
|
|
|
Cerebral Palsy, Spastic Quadriplegic, 2 [MESH:C567867] (23) |
|
|
Hepatic Encephalopathy [MESH:D006501] (1795) |
|
|
Wernicke Encephalopathy [MESH:D014899] (75) |
|
|
Ethylmalonic encephalopathy [MESH:C535737] (27) |
|
|
Hepatolenticular Degeneration [MESH:D006527] (473) |
|
|
Hyperglycinemia, Nonketotic [MESH:D020158] (67) |
|
|
Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149) |
|
|
Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333) |
|
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|
|
Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129) |
|
|
Leigh Syndrome, X-Linked [MESH:C564114] (33) |
|
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|
|
Neuraminidase 1 deficiency [MESH:C537366] (31) |
|
|
Sea-Blue Histiocyte Syndrome [MESH:D012618] (165) |
|
|
Niemann-Pick Disease, Type A [MESH:D052536] (44) |
|
|
Niemann-Pick Disease, Type B [MESH:D052537] (44) |
|
|
Peroxisome biogenesis disorders [MESH:C536664] (101) |
|
|
Zellweger Syndrome [MESH:D015211] (182) |
|
|
Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129) |
|
|
Neuropathy, hereditary motor and sensory, LOM type [MESH:C535716] (131) |
|
|
3-methylcrotonyl CoA carboxylase 2 deficiency [MESH:C535309] (32) |
|
|
|
|
|
Dysequilibrium syndrome [MESH:C535731] (83) |
|
|
Spinocerebellar Ataxia 15 [MESH:C564685] (90) |
|
|
Spinocerebellar Ataxia 12 [MESH:C565790] (36) |
|
|
Spinocerebellar Ataxia 10 [MESH:C566874] (24) |
|
|
Spinocerebellar Ataxia 29 [MESH:C537206] (90) |
|
|
Spinocerebellar Ataxia 15 [MESH:C564685] (90) |
|
|
Spinocerebellar Ataxia 12 [MESH:C565790] (36) |
|
|
Spinocerebellar Ataxia 10 [MESH:C566874] (24) |
|
|
Vasospasm, Intracranial [MESH:D020301] (324) |
|
|
|
|
|
|
|
|
Infarction, Middle Cerebral Artery [MESH:D020244] (2268) |
|
|
Carotid Stenosis [MESH:D016893] (174) |
|
|
|
|
|
Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333) |
|
|
|
|
|
Infarction, Middle Cerebral Artery [MESH:D020244] (2268) |
|
|
|
|
|
Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333) |
|
|
Intracranial Thrombosis [MESH:D020767] (481) |
|
|
|
|
|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type [MESH:C537944] (333) |
|
|
Hematoma, Subdural [MESH:D006408] (212) |
|
|
|
|
|
|
|
|
Infarction, Middle Cerebral Artery [MESH:D020244] (2268) |
|
|
Huntington Disease [MESH:D006816] (540) |
|
|
Alzheimer disease type 2 [MESH:C536595] (165) |
|
|
Meningoencephalitis [MESH:D008590] (179) |
|
|
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy [MESH:C567020] (21) |
|
|
Seizures [MESH:D012640] (4502) |
|
|
Status Epilepticus [MESH:D013226] (4014) |
|
|
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|
|
Epilepsy, Progressive Myoclonic, 1b [MESH:C567315] (29) |
|
|
Epilepsy, Temporal Lobe [MESH:D004833] (1108) |
|
|
Epilepsy, Tonic-Clonic [MESH:D004830] (1042) |
|
|
Spasms, Infantile [MESH:D013036] (468) |
|
|
|
|
|
Migraine Disorders [MESH:D008881] (2318) |
|
|
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|
|
|
|
|
Pituitary ACTH Hypersecretion [MESH:D047748] (599) |
|
|
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|
|
Short Stature, Idiopathic, Autosomal [MESH:C565805] (194) |
|
|
Brain Small Vessel Disease with Hemorrhage [MESH:C564372] (77) |
|
|
Encephalomyelitis, Autoimmune, Experimental [MESH:D004681] (806) |
|
|
|
|
|
Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129) |
|
|
Meningoencephalitis [MESH:D008590] (207) |
|
|
Meningoencephalitis [MESH:D008590] (179) |
|
|
Meningoencephalitis [MESH:D008590] (179) |
|
|
Meningoencephalitis [MESH:D008590] (179) |
|
|
Hepatolenticular Degeneration [MESH:D006527] (473) |
|
|
Mental Retardation, X-Linked, Syndromic 10 [MESH:C564560] (54) |
|
|
Dyskinesia, Drug-Induced [MESH:D004409] (1389) |
|
|
Huntington Disease [MESH:D006816] (540) |
|
|
Parkinson Disease [MESH:D010300] (3595) |
|
|
Parkinson Disease, Secondary [MESH:D010302] (327) |
|
|
Spinal Cord Compression [MESH:D013117] (1800) |
|
|
Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559) |
|
|
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type [MESH:C566695] (62) |
|
|
Bulbospinal neuronopathy, X-linked recessive [MESH:C537017] (565) |
|
|
Spinocerebellar Ataxia 29 [MESH:C537206] (90) |
|
|
Spinocerebellar Ataxia 15 [MESH:C564685] (90) |
|
|
Spinocerebellar Ataxia 12 [MESH:C565790] (36) |
|
|
Spinocerebellar Ataxia 10 [MESH:C566874] (24) |
|
|
|
|
|
|
|
|
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 [MESH:C563575] (77) |
|
|
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 [MESH:C563750] (56) |
|
|
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 [MESH:C563750] (56) |
|
|
|
|
|
|
|
|
Optic Atrophy, Hereditary, Leber [MESH:D029242] (1100) |
|
|
|
|
|
Corneal dystrophy, epithelial basement membrane [MESH:C535477] (76) |
|
|
|
|
|
Encephalomyelitis, Autoimmune, Experimental [MESH:D004681] (806) |
|
|
Multiple Sclerosis, Relapsing-Remitting [MESH:D020529] (170) |
|
|
|
|
|
Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129) |
|
|
|
|
|
Neuropathy, Hereditary Sensory And Autonomic, Type IIB [MESH:C567738] (28) |
|
|
|
|
|
Chudley-Mccullough syndrome [MESH:C535459] (45) |
|
|
Opitz-Kaveggia syndrome [MESH:C537923] (64) |
|
|
|
|
|
Chudley-Mccullough syndrome [MESH:C535459] (45) |
|
|
|
|
|
Charcot-Marie-Tooth disease, Type 4B1 [MESH:C535420] (16) |
|
|
Neuropathy, hereditary motor and sensory, LOM type [MESH:C535716] (131) |
|
|
Charcot-Marie-Tooth disease, Type 1F [MESH:C537987] (89) |
|
|
Charcot-Marie-Tooth disease, Type 2E [MESH:C537994] (89) |
|
|
Hereditary Motor And Sensory Neuropathy, Type IIC [MESH:C565261] (39) |
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2a1 [MESH:C566138] (54) |
|
|
Neuropathy, hereditary motor and sensory, LOM type [MESH:C535716] (131) |
|
|
Neuropathy, Hereditary Sensory And Autonomic, Type IIB [MESH:C567738] (28) |
|
|
Lissencephaly [MESH:D054082] (218) |
|
|
Microcephaly [MESH:D008831] (700) |
|
|
Tuberous Sclerosis [MESH:D014402] (635) |
|
|
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy [MESH:C567020] (21) |
|
|
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis [MESH:C567770] (35) |
|
|
|
|
|
Heterotopia, Periventricular, Ehlers-Danlos Variant [MESH:C564492] (36) |
|
|
Spinal Dysraphism [MESH:D016135] (1025) |
|
|
|
|
|
|
|
|
|
|
|
Chudley-Mccullough syndrome [MESH:C535459] (45) |
|
|
|
|
|
Meningioma, familial [MESH:C537443] (195) |
|
|
Tuberous Sclerosis [MESH:D014402] (635) |
|
|
Parkinson Disease [MESH:D010300] (3595) |
|
|
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type [MESH:C566695] (62) |
|
|
Hepatolenticular Degeneration [MESH:D006527] (473) |
|
|
Huntington Disease [MESH:D006816] (540) |
|
|
Tuberous Sclerosis [MESH:D014402] (635) |
|
|
Bulbospinal neuronopathy, X-linked recessive [MESH:C537017] (565) |
|
|
|
|
|
Charcot-Marie-Tooth disease, Type 4B1 [MESH:C535420] (16) |
|
|
Neuropathy, hereditary motor and sensory, LOM type [MESH:C535716] (131) |
|
|
Charcot-Marie-Tooth disease, Type 1F [MESH:C537987] (89) |
|
|
Charcot-Marie-Tooth disease, Type 2E [MESH:C537994] (89) |
|
|
Hereditary Motor And Sensory Neuropathy, Type IIC [MESH:C565261] (39) |
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2a1 [MESH:C566138] (54) |
|
|
Neuropathy, hereditary motor and sensory, LOM type [MESH:C535716] (131) |
|
|
Neuropathy, Hereditary Sensory And Autonomic, Type IIB [MESH:C567738] (28) |
|
|
Dystrophia myotonica 1 [MESH:C538008] (25) |
|
|
Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946) |
|
|
Ceroid Lipofuscinosis, Neuronal, 10 [MESH:C566438] (159) |
|
|
Ceroid lipofuscinosis, neuronal 5 [MESH:C575534] (11) |
|
|
Optic Atrophy, Hereditary, Leber [MESH:D029242] (1100) |
|
|
Spinocerebellar Ataxia 29 [MESH:C537206] (90) |
|
|
Spinocerebellar Ataxia 15 [MESH:C564685] (90) |
|
|
Spinocerebellar Ataxia 12 [MESH:C565790] (36) |
|
|
Spinocerebellar Ataxia 10 [MESH:C566874] (24) |
|
|
|
|
|
Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559) |
|
|
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type [MESH:C566695] (62) |
|
|
Bulbospinal neuronopathy, X-linked recessive [MESH:C537017] (565) |
|
|
|
|
|
Alzheimer disease type 2 [MESH:C536595] (165) |
|
|
|
|
|
Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559) |
|
|
Neurogenic Inflammation [MESH:D020078] (2246) |
|
|
Paresis [MESH:D010291] (419) |
|
|
Seizures [MESH:D012640] (4514) |
|
|
Mental Retardation, X-Linked, Syndromic 10 [MESH:C564560] (54) |
|
|
Dystonia [MESH:D004421] (848) |
|
|
Hyperkinesis [MESH:D006948] (1799) |
|
|
Ataxia with vitamin E deficiency [MESH:C535393] (271) |
|
|
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract [MESH:C567203] (27) |
|
|
Dysequilibrium syndrome [MESH:C535731] (83) |
|
|
Spinocerebellar Ataxia 15 [MESH:C564685] (90) |
|
|
Spinocerebellar Ataxia 12 [MESH:C565790] (36) |
|
|
Spinocerebellar Ataxia 10 [MESH:C566874] (24) |
|
|
|
|
|
Learning Disorders [MESH:D007859] (2727) |
|
|
|
|
|
Aphasia [MESH:D001037] (219) |
|
|
Amnesia [MESH:D000647] (1911) |
|
|
Korsakoff Syndrome [MESH:D020915] (69) |
|
|
Dysequilibrium syndrome [MESH:C535731] (83) |
|
|
Coffin-Siris syndrome [MESH:C536436] (102) |
|
|
Parastremmatic dwarfism [MESH:C537172] (39) |
|
|
Brunner Syndrome [MESH:C563156] (124) |
|
|
Rubinstein-Taybi Syndrome [MESH:D012415] (149) |
|
|
WAGR Syndrome [MESH:D017624] (270) |
|
|
Opitz-Kaveggia syndrome [MESH:C537923] (64) |
|
|
Mental Retardation, X-Linked 3 [MESH:C563136] (30) |
|
|
Mental Retardation, X-Linked 17 [MESH:C563140] (41) |
|
|
Mental Retardation, X-Linked 46 [MESH:C564513] (17) |
|
|
Mental Retardation, X-Linked 63 [MESH:C564522] (64) |
|
|
Mental Retardation, X-Linked, Syndromic 10 [MESH:C564560] (54) |
|
|
Mental Retardation, X-Linked 58 [MESH:C564566] (32) |
|
|
Mental Retardation, X-Linked, Syndromic 14 [MESH:C567063] (30) |
|
|
Mental Retardation, X-Linked 95 [MESH:C567470] (20) |
|
|
Fragile X Syndrome [MESH:D005600] (353) |
|
|
Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149) |
|
|
Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129) |
|
|
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy [MESH:C567020] (21) |
|
|
Muscular Atrophy [MESH:D009133] (1234) |
|
|
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps [MESH:C567088] (77) |
|
|
Opitz-Kaveggia syndrome [MESH:C537923] (64) |
|
|
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of [MESH:C567006] (27) |
|
|
Neuralgia [MESH:D009437] (2074) |
|
|
Low Back Pain [MESH:D017116] (244) |
|
|
|
|
|
Familial porencephaly [MESH:C536850] (77) |
|
|
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 [MESH:C563575] (77) |
|
|
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 [MESH:C563750] (56) |
|
|
Pierson syndrome [MESH:C537185] (33) |
|
|
Taste Disorders [MESH:D013651] (461) |
|
|
Vision Disorders [MESH:D014786] (501) |
|
|
|
|
|
|
|
|
Chudley-Mccullough syndrome [MESH:C535459] (45) |
|
|
Corneal dystrophy and perceptive deafness [MESH:C535473] (17) |
|
|
Barakat syndrome [MESH:C537907] (71) |
|
|
Deafness, Autosomal Recessive 53 [MESH:C566453] (16) |
|
|
Deafness, Autosomal Recessive 42 [MESH:C566460] (11) |
|
|
Deafness, Autosomal Dominant 13 [MESH:C566612] (16) |
|
|
Deafness, Autosomal Recessive 1A [MESH:C567134] (88) |
|
|
Deafness, Autosomal Recessive 1b [MESH:C567213] (18) |
|
|
Deafness, Autosomal Dominant 3B [MESH:C567215] (18) |
|
|
Deafness, Autosomal Dominant 3A [MESH:C567277] (77) |
|
|
Hyperalgesia [MESH:D006930] (3929) |
|
|
|
|
|
|
|
|
Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559) |
|
|
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type [MESH:C566695] (62) |
|
|
Bulbospinal neuronopathy, X-linked recessive [MESH:C537017] (565) |
|
|
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type [MESH:C566695] (62) |
|
|
Carnitine Palmitoyltransferase II Deficiency, Late-Onset [MESH:C563461] (52) |
|
|
Alpha-B Crystallinopathy [MESH:C563848] (135) |
|
|
Neutral Lipid Storage Disease with Myopathy [MESH:C565192] (58) |
|
|
Myopathy, Reducing Body, X-Linked, Childhood-Onset [MESH:C567468] (64) |
|
|
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe [MESH:C567469] (64) |
|
|
|
|
|
Bethlem myopathy [MESH:C535436] (108) |
|
|
Scleroatonic muscular dystrophy [MESH:C537521] (108) |
|
|
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency [MESH:C567709] (41) |
|
|
Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854) |
|
|
Muscular Dystrophy, Oculopharyngeal [MESH:D039141] (32) |
|
|
Myopathy, X-Linked, With Postural Muscle Atrophy [MESH:C567480] (64) |
|
|
Scapuloperoneal Myopathy, X-Linked Dominant [MESH:C567481] (64) |
|
|
Dystrophia myotonica 1 [MESH:C538008] (25) |
|
|
|
|
|
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 [MESH:C563750] (56) |
|
|
Myosclerosis, Autosomal Recessive [MESH:C564968] (45) |
|
|
Nemaline myopathy 4 [MESH:C538351] (47) |
|
|
Nemaline Myopathy 7 [MESH:C565198] (21) |
|
|
Dermatomyositis [MESH:D003882] (1826) |
|
|
Dermatomyositis [MESH:D003882] (1826) |
|
|
|
|
|
Dystrophia myotonica 1 [MESH:C538008] (25) |
|
|
Myasthenia Gravis [MESH:D009157] (632) |
|
|
Diabetic Neuropathies [MESH:D003929] (2442) |
|
|
Neuralgia [MESH:D009437] (2078) |
|
|
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract [MESH:C567203] (27) |
|
|
|
|
|
Charcot-Marie-Tooth disease, Type 4B1 [MESH:C535420] (16) |
|
|
Neuropathy, hereditary motor and sensory, LOM type [MESH:C535716] (131) |
|
|
Charcot-Marie-Tooth disease, Type 1F [MESH:C537987] (89) |
|
|
Charcot-Marie-Tooth disease, Type 2E [MESH:C537994] (89) |
|
|
Hereditary Motor And Sensory Neuropathy, Type IIC [MESH:C565261] (39) |
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2a1 [MESH:C566138] (54) |
|
|
Neuropathy, hereditary motor and sensory, LOM type [MESH:C535716] (131) |
|
|
Neuropathy, Hereditary Sensory And Autonomic, Type IIB [MESH:C567738] (28) |
|
|
|
|
|
Neuropathy, Hereditary Sensory And Autonomic, Type IIB [MESH:C567738] (28) |
|
|
Dyskinesia, Drug-Induced [MESH:D004409] (1389) |
|
|
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|
|
Korsakoff Syndrome [MESH:D020915] (69) |
|
|
Arsenic Poisoning [MESH:D020261] (2540) |
|
|
Manganese Poisoning [MESH:D020149] (2214) |
|
|
|
|
|
|
|
|
Restless Legs Syndrome [MESH:D012148] (379) |
|
|
Restless Legs Syndrome [MESH:D012148] (379) |
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|
|
|
|
Brain Injuries [MESH:D001930] (3431) |
|
|
Hematoma, Subdural [MESH:D006408] (212) |
|
 |
C11. Eye Diseases |
 |
 |
|
C11. Eye Diseases |
|
|
Exudative Vitreoretinopathy 5 [MESH:C567648] (24) |
|
|
Eyelid Diseases [MESH:D005141] (882) |
|
|
Refractive Errors [MESH:D012030] (457) |
|
|
Vision Disorders [MESH:D014786] (534) |
|
|
Corneal dystrophy, epithelial basement membrane [MESH:C535477] (76) |
|
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|
|
|
Corneal dystrophy and perceptive deafness [MESH:C535473] (17) |
|
|
Corneal dystrophy Avellino type [MESH:C535474] (76) |
|
|
Corneal dystrophy of Bowman layer, type 1 [MESH:C535476] (76) |
|
|
Doyne honeycomb retinal dystrophy [MESH:C535602] (44) |
|
|
Corneal dystrophy, Thiel-Behnke type [MESH:C535942] (76) |
|
|
Groenouw type I corneal dystrophy [MESH:C537304] (76) |
|
|
Meretoja syndrome [MESH:C537459] (95) |
|
|
Lattice corneal dystrophy type 1 [MESH:C537881] (76) |
|
|
Macular Dystrophy, Retinal, 2 [MESH:C562746] (63) |
|
|
Corneal Dystrophy, Posterior Polymorphous, 3 [MESH:C563788] (60) |
|
|
Corneal Dystrophy, Lattice Type IIIA [MESH:C563923] (76) |
|
|
Corneal Dystrophy, Congenital Stromal [MESH:C566452] (90) |
|
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann [MESH:D053559] (12) |
|
|
Corneal endothelial dystrophy type 2 [MESH:C536439] (17) |
|
|
Corneal Dystrophy, Fuchs Endothelial, 6 [MESH:C567675] (60) |
|
|
Corneal Dystrophy, Fuchs Endothelial, 4 [MESH:C567677] (17) |
|
|
Peters anomaly [MESH:C537884] (465) |
|
|
Pierson syndrome [MESH:C537185] (33) |
|
|
Peters anomaly [MESH:C537884] (465) |
|
|
Oculodentodigital Dysplasia [MESH:C563160] (192) |
|
|
Oculodentodigital Dysplasia, Autosomal Recessive [MESH:C567605] (192) |
|
|
Coloboma [MESH:D003103] (315) |
|
|
WAGR Syndrome [MESH:D017624] (270) |
|
|
Basal Laminar Drusen [MESH:C563034] (52) |
|
|
Graves Ophthalmopathy [MESH:D049970] (165) |
|
|
WAGR Syndrome [MESH:D017624] (270) |
|
|
Corneal dystrophy and perceptive deafness [MESH:C535473] (17) |
|
|
Corneal dystrophy Avellino type [MESH:C535474] (76) |
|
|
Corneal dystrophy of Bowman layer, type 1 [MESH:C535476] (76) |
|
|
Doyne honeycomb retinal dystrophy [MESH:C535602] (44) |
|
|
Corneal dystrophy, Thiel-Behnke type [MESH:C535942] (76) |
|
|
Groenouw type I corneal dystrophy [MESH:C537304] (76) |
|
|
Meretoja syndrome [MESH:C537459] (95) |
|
|
Lattice corneal dystrophy type 1 [MESH:C537881] (76) |
|
|
Macular Dystrophy, Retinal, 2 [MESH:C562746] (63) |
|
|
Corneal Dystrophy, Posterior Polymorphous, 3 [MESH:C563788] (60) |
|
|
Corneal Dystrophy, Lattice Type IIIA [MESH:C563923] (76) |
|
|
Corneal Dystrophy, Congenital Stromal [MESH:C566452] (90) |
|
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann [MESH:D053559] (12) |
|
|
Corneal endothelial dystrophy type 2 [MESH:C536439] (17) |
|
|
Corneal Dystrophy, Fuchs Endothelial, 6 [MESH:C567675] (60) |
|
|
Corneal Dystrophy, Fuchs Endothelial, 4 [MESH:C567677] (17) |
|
|
Leber Congenital Amaurosis 3 [MESH:C565814] (38) |
|
|
Leber Congenital Amaurosis 13 [MESH:C567197] (20) |
|
|
Optic Atrophy, Hereditary, Leber [MESH:D029242] (1100) |
|
|
Cone-Rod Dystrophy 10 [MESH:C564597] (30) |
|
|
Retinitis Pigmentosa 35 [MESH:C565206] (30) |
|
|
Leber Congenital Amaurosis 3 [MESH:C565814] (38) |
|
|
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract [MESH:C567203] (27) |
|
|
Cone-Rod Dystrophy 12 [MESH:C567206] (63) |
|
|
Retinitis Pigmentosa 41 [MESH:C567422] (63) |
|
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|
|
Brain Small Vessel Disease with Hemorrhage [MESH:C564372] (77) |
|
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|
|
Alpha-B Crystallinopathy [MESH:C563848] (135) |
|
|
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract [MESH:C567203] (27) |
|
|
|
|
|
Glaucoma 3, Primary Congenital, A [MESH:C565547] (434) |
|
|
Glaucoma, Primary Open Angle [MESH:C562750] (466) |
|
|
Glaucoma 1, Open Angle, A [MESH:C564234] (446) |
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|
|
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 [MESH:C563575] (77) |
|
|
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 [MESH:C563750] (56) |
|
|
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 [MESH:C563750] (56) |
|
|
|
|
|
|
|
|
Optic Atrophy, Hereditary, Leber [MESH:D029242] (1100) |
|
|
|
|
|
|
|
|
Graves Ophthalmopathy [MESH:D049970] (165) |
|
|
Pierson syndrome [MESH:C537185] (33) |
|
|
Exudative Vitreoretinopathy 5 [MESH:C567648] (24) |
|
|
Leber Congenital Amaurosis 3 [MESH:C565814] (38) |
|
|
Leber Congenital Amaurosis 13 [MESH:C567197] (20) |
|
|
|
|
|
Stargardt disease 4 [MESH:C535521] (63) |
|
|
Macular Degeneration, Age-Related, 4 [MESH:C565196] (67) |
|
|
Macular Degeneration, Age-Related, 1 [MESH:C566411] (276) |
|
|
Macular Degeneration, Age-Related, 11 [MESH:C567450] (61) |
|
|
Basal Laminar Drusen [MESH:C563034] (52) |
|
|
|
|
|
Cone-Rod Dystrophy 10 [MESH:C564597] (30) |
|
|
Retinitis Pigmentosa 35 [MESH:C565206] (30) |
|
|
Leber Congenital Amaurosis 3 [MESH:C565814] (38) |
|
|
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract [MESH:C567203] (27) |
|
|
Cone-Rod Dystrophy 12 [MESH:C567206] (63) |
|
|
Retinitis Pigmentosa 41 [MESH:C567422] (63) |
|
|
Brain Small Vessel Disease with Hemorrhage [MESH:C564372] (77) |
|
|
|
|
|
|
|
|
WAGR Syndrome [MESH:D017624] (270) |
|
|
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|
|
Behcet Syndrome [MESH:D001528] (1784) |
|
 |
C12. Male Urogenital Diseases |
 |
 |
|
C12. Male Urogenital Diseases |
|
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|
|
Prostate cancer, familial [MESH:C537243] (264) |
|
|
Infertility, Male [MESH:D007248] (2851) |
|
|
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|
|
Hypospadias 1, X-Linked [MESH:C567482] (571) |
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|
|
Prostate cancer, familial [MESH:C537243] (264) |
|
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|
|
Chlamydia Infections [MESH:D002690] (1693) |
|
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|
|
Cortisone reductase deficiency [MESH:C536447] (136) |
|
|
Mullerian Aplasia and Hyperandrogenism [MESH:C567186] (57) |
|
|
Androgen-Insensitivity Syndrome [MESH:D013734] (567) |
|
|
Denys-Drash Syndrome [MESH:D030321] (57) |
|
|
Frasier Syndrome [MESH:D052159] (57) |
|
|
WAGR Syndrome [MESH:D017624] (270) |
|
|
Meacham Winn Culler syndrome [MESH:C538162] (57) |
|
|
Adrenal Hyperplasia, Congenital [MESH:D000312] (674) |
|
|
Mullerian Aplasia and Hyperandrogenism [MESH:C567186] (57) |
|
|
|
|
|
Meacham Winn Culler syndrome [MESH:C538162] (57) |
|
|
Hypospadias 1, X-Linked [MESH:C567482] (571) |
|
|
|
|
|
|
|
|
Prostate cancer, familial [MESH:C537243] (264) |
|
|
Ureteral Neoplasms [MESH:D014516] (574) |
|
|
Urinary Bladder Neoplasms [MESH:D001749] (4079) |
|
|
Oncocytoma, renal [MESH:C537750] (35) |
|
|
Carcinoma, Renal Cell [MESH:D002292] (2975) |
|
|
Denys-Drash Syndrome [MESH:D030321] (57) |
|
|
WAGR Syndrome [MESH:D017624] (270) |
|
|
|
|
|
Complement Factor H Deficiency [MESH:C562875] (52) |
|
|
Lipoprotein Glomerulopathy [MESH:C567089] (165) |
|
|
Diabetic Nephropathies [MESH:D003928] (2301) |
|
|
Hydronephrosis [MESH:D006869] (956) |
|
|
Zellweger Syndrome [MESH:D015211] (182) |
|
|
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|
|
Primary hyperoxaluria type 2 [MESH:C536415] (25) |
|
|
|
|
|
Polycystic Kidney, Autosomal Dominant [MESH:D016891] (522) |
|
|
Oncocytoma, renal [MESH:C537750] (35) |
|
|
Carcinoma, Renal Cell [MESH:D002292] (2975) |
|
|
Denys-Drash Syndrome [MESH:D030321] (57) |
|
|
WAGR Syndrome [MESH:D017624] (270) |
|
|
|
|
|
Glomerulonephritis, IGA [MESH:D005922] (897) |
|
|
Glomerulonephritis, Membranoproliferative [MESH:D015432] (770) |
|
|
Glomerulonephritis, Membranous [MESH:D015433] (642) |
|
|
Glomerulosclerosis, Focal Segmental [MESH:D005923] (1754) |
|
|
Lupus Nephritis [MESH:D008181] (602) |
|
|
Barakat syndrome [MESH:C537907] (71) |
|
|
Pierson syndrome [MESH:C537185] (33) |
|
|
Mesangial sclerosis, diffuse [MESH:C537346] (33) |
|
|
Acute Kidney Injury [MESH:D058186] (4142) |
|
|
|
|
|
Frasier Syndrome [MESH:D052159] (57) |
|
|
|
|
|
Atypical hemolytic uremic syndrome [MESH:C538266] (277) |
|
|
Ureteral Neoplasms [MESH:D014516] (574) |
|
|
Urinary Bladder Neoplasms [MESH:D001749] (4079) |
|
|
Polyuria [MESH:D011141] (279) |
|
|
Albuminuria [MESH:D000419] (2394) |
|
|
CD59 Deficiency [MESH:C567355] (57) |
|
 |
C13. Female Urogenital Diseases and Pregnancy Complications |
 |
 |
|
C13. Female Urogenital Diseases and Pregnancy Complications |
|
|
Not Fully Specified [NFS] (1116) |
|
|
|
|
|
Endometriosis [MESH:D004715] (2461) |
|
|
|
|
|
Ovarian Neoplasms [MESH:D010051] (3281) |
|
|
Polycystic Ovary Syndrome [MESH:D011085] (2186) |
|
|
Premature Ovarian Failure 2b [MESH:C564476] (12) |
|
|
Infertility, Female [MESH:D007247] (2184) |
|
|
|
|
|
Chlamydia Infections [MESH:D002690] (1693) |
|
|
Endometrial Hyperplasia [MESH:D004714] (263) |
|
|
Endometrial Neoplasms [MESH:D016889] (1984) |
|
|
|
|
|
|
|
|
Cortisone reductase deficiency [MESH:C536447] (136) |
|
|
Mullerian Aplasia and Hyperandrogenism [MESH:C567186] (57) |
|
|
Androgen-Insensitivity Syndrome [MESH:D013734] (567) |
|
|
Denys-Drash Syndrome [MESH:D030321] (57) |
|
|
Frasier Syndrome [MESH:D052159] (57) |
|
|
WAGR Syndrome [MESH:D017624] (270) |
|
|
Meacham Winn Culler syndrome [MESH:C538162] (57) |
|
|
Adrenal Hyperplasia, Congenital [MESH:D000312] (674) |
|
|
Mullerian Aplasia and Hyperandrogenism [MESH:C567186] (57) |
|
|
|
|
|
Meacham Winn Culler syndrome [MESH:C538162] (57) |
|
|
Hypospadias 1, X-Linked [MESH:C567482] (571) |
|
|
|
|
|
Ovarian Neoplasms [MESH:D010051] (3281) |
|
|
Endometrial Neoplasms [MESH:D016889] (1989) |
|
|
Ureteral Neoplasms [MESH:D014516] (574) |
|
|
Urinary Bladder Neoplasms [MESH:D001749] (4079) |
|
|
Oncocytoma, renal [MESH:C537750] (35) |
|
|
Carcinoma, Renal Cell [MESH:D002292] (2975) |
|
|
Denys-Drash Syndrome [MESH:D030321] (57) |
|
|
WAGR Syndrome [MESH:D017624] (270) |
|
|
|
|
|
Complement Factor H Deficiency [MESH:C562875] (52) |
|
|
Lipoprotein Glomerulopathy [MESH:C567089] (165) |
|
|
Diabetic Nephropathies [MESH:D003928] (2301) |
|
|
Hydronephrosis [MESH:D006869] (956) |
|
|
Zellweger Syndrome [MESH:D015211] (182) |
|
|
|
|
|
Primary hyperoxaluria type 2 [MESH:C536415] (25) |
|
|
|
|
|
Polycystic Kidney, Autosomal Dominant [MESH:D016891] (522) |
|
|
Oncocytoma, renal [MESH:C537750] (35) |
|
|
Carcinoma, Renal Cell [MESH:D002292] (2975) |
|
|
Denys-Drash Syndrome [MESH:D030321] (57) |
|
|
WAGR Syndrome [MESH:D017624] (270) |
|
|
|
|
|
Glomerulonephritis, IGA [MESH:D005922] (897) |
|
|
Glomerulonephritis, Membranoproliferative [MESH:D015432] (770) |
|
|
Glomerulonephritis, Membranous [MESH:D015433] (642) |
|
|
Glomerulosclerosis, Focal Segmental [MESH:D005923] (1754) |
|
|
Lupus Nephritis [MESH:D008181] (602) |
|
|
Barakat syndrome [MESH:C537907] (71) |
|
|
Pierson syndrome [MESH:C537185] (33) |
|
|
Mesangial sclerosis, diffuse [MESH:C537346] (33) |
|
|
Acute Kidney Injury [MESH:D058186] (4142) |
|
|
|
|
|
Frasier Syndrome [MESH:D052159] (57) |
|
|
|
|
|
Atypical hemolytic uremic syndrome [MESH:C538266] (277) |
|
|
Ureteral Neoplasms [MESH:D014516] (574) |
|
|
Urinary Bladder Neoplasms [MESH:D001749] (4079) |
|
|
Polyuria [MESH:D011141] (279) |
|
|
Albuminuria [MESH:D000419] (2394) |
|
|
CD59 Deficiency [MESH:C567355] (57) |
|
|
Hyperthyroidism, Familial Gestational [MESH:C566384] (39) |
|
|
Diabetes, Gestational [MESH:D016640] (1157) |
|
|
Fetal Death [MESH:D005313] (464) |
|
|
Placenta Diseases [MESH:D010922] (1781) |
|
|
Pregnancy Complications, Cardiovascular [MESH:D011249] (1994) |
|
|
Embryo Loss [MESH:D020964] (288) |
|
|
Fetal Growth Retardation [MESH:D005317] (986) |
|
|
Pre-Eclampsia [MESH:D011225] (1435) |
|
|
Fetal Membranes, Premature Rupture [MESH:D005322] (356) |
|
|
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy [MESH:C567020] (21) |
|
|
Prenatal Exposure Delayed Effects [MESH:D011297] (870) |
|
 |
C14. Cardiovascular Diseases |
 |
 |
|
C14. Cardiovascular Diseases |
|
|
Not Fully Specified [NFS] (2667) |
|
|
Pregnancy Complications, Cardiovascular [MESH:D011249] (1994) |
|
|
|
|
|
Cardiac valvular dysplasia, X-linked [MESH:C535576] (36) |
|
|
Cardiofaciocutaneous syndrome [MESH:C535579] (407) |
|
|
Coronary Vessel Anomalies [MESH:D003330] (317) |
|
|
Hypoplastic Left Heart Syndrome [MESH:D018636] (194) |
|
|
LEOPARD Syndrome [MESH:D044542] (299) |
|
|
Marfan Syndrome [MESH:D008382] (646) |
|
|
Noonan Syndrome [MESH:D009634] (506) |
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Aortic aneurysm, familial thoracic 4 [MESH:C537784] (29) |
|
|
Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome [MESH:C565249] (17) |
|
|
Truncus Arteriosus, Persistent [MESH:D014339] (45) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
Atrial Septal Defect 5 [MESH:C567561] (51) |
|
|
Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome [MESH:C565249] (17) |
|
|
|
|
|
Venous Malformations, Multiple Cutaneous and Mucosal [MESH:C563977] (62) |
|
|
Cardiac Tamponade [MESH:D002305] (175) |
|
|
Heart Arrest [MESH:D006323] (1926) |
|
|
Heart Failure [MESH:D006333] (4058) |
|
|
Pericardial Effusion [MESH:D010490] (1015) |
|
|
Atrial Fibrillation [MESH:D001281] (1053) |
|
|
Ventricular Fibrillation [MESH:D014693] (624) |
|
|
|
|
|
Torsades de Pointes [MESH:D016171] (880) |
|
|
Hypertrophy, Left Ventricular [MESH:D017379] (1430) |
|
|
Cardiomyopathy, Dilated, 1D [MESH:C563306] (50) |
|
|
Cardiomyopathy, Dilated, 1p [MESH:C563690] (45) |
|
|
Cardiomyopathy, Dilated, 1i [MESH:C565752] (62) |
|
|
Cardiomyopathy, Dilated, 1t [MESH:C566052] (76) |
|
|
Cardiomyopathy, Dilated, 1y [MESH:C567507] (103) |
|
|
Cardiomyopathy, Dilated, 1CC [MESH:C567733] (37) |
|
|
Alpha-B Crystallinopathy [MESH:C563848] (135) |
|
|
Diabetic Cardiomyopathies [MESH:D058065] (1995) |
|
|
Myocardial Reperfusion Injury [MESH:D015428] (3500) |
|
|
Myocarditis [MESH:D009205] (1708) |
|
|
Cardiomyopathy, Dilated, 1D [MESH:C563306] (50) |
|
|
Cardiomyopathy, Dilated, 1p [MESH:C563690] (45) |
|
|
Cardiomyopathy, Dilated, 1i [MESH:C565752] (62) |
|
|
Cardiomyopathy, Dilated, 1t [MESH:C566052] (76) |
|
|
Cardiomyopathy, Dilated, 1y [MESH:C567507] (103) |
|
|
Cardiomyopathy, Dilated, 1CC [MESH:C567733] (37) |
|
|
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of [MESH:C567006] (27) |
|
|
Cardiomyopathy, Familial Hypertrophic, 1 [MESH:C566005] (190) |
|
|
Cardiomyopathy, Familial Hypertrophic, 3 [MESH:C566170] (103) |
|
|
Cardiomyopathy, Familial Hypertrophic, 2 [MESH:C566171] (50) |
|
|
Cardiomyopathy, Familial Hypertrophic, 11 [MESH:C567419] (51) |
|
|
Cardiomyopathy, Familial Restrictive, 3 [MESH:C567316] (50) |
|
|
Cardiac valvular dysplasia, X-linked [MESH:C535576] (36) |
|
|
Cardiofaciocutaneous syndrome [MESH:C535579] (407) |
|
|
Coronary Vessel Anomalies [MESH:D003330] (317) |
|
|
Hypoplastic Left Heart Syndrome [MESH:D018636] (194) |
|
|
LEOPARD Syndrome [MESH:D044542] (299) |
|
|
Marfan Syndrome [MESH:D008382] (646) |
|
|
Noonan Syndrome [MESH:D009634] (506) |
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Aortic aneurysm, familial thoracic 4 [MESH:C537784] (29) |
|
|
Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome [MESH:C565249] (17) |
|
|
Truncus Arteriosus, Persistent [MESH:D014339] (45) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
Atrial Septal Defect 5 [MESH:C567561] (51) |
|
|
Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome [MESH:C565249] (17) |
|
|
Aortic Valve Insufficiency [MESH:D001022] (1002) |
|
|
Aortic Valve, Calcification of [MESH:C562942] (655) |
|
|
|
|
|
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of [MESH:C567006] (27) |
|
|
|
|
|
Cardiac valvular dysplasia, X-linked [MESH:C535576] (36) |
|
|
Keutel syndrome [MESH:C536167] (102) |
|
|
LEOPARD Syndrome [MESH:D044542] (299) |
|
|
Acute Coronary Syndrome [MESH:D054058] (2286) |
|
|
Myocardial Reperfusion Injury [MESH:D015428] (3500) |
|
|
Myocardial Stunning [MESH:D017682] (1816) |
|
|
Acute Coronary Syndrome [MESH:D054058] (2286) |
|
|
Angina, Stable [MESH:D060050] (1702) |
|
|
Coronary Aneurysm [MESH:D003323] (204) |
|
|
Coronary Artery Disease [MESH:D003324] (2685) |
|
|
Coronary Thrombosis [MESH:D003328] (255) |
|
|
Coronary Restenosis [MESH:D023903] (1683) |
|
|
Myocardial Stunning [MESH:D017682] (1816) |
|
|
Shock, Cardiogenic [MESH:D012770] (269) |
|
|
Ventricular Dysfunction, Left [MESH:D018487] (1631) |
|
|
|
|
|
Aortic Valve, Calcification of [MESH:C562942] (655) |
|
|
Keutel syndrome [MESH:C536167] (102) |
|
|
Arteritis [MESH:D001167] (1084) |
|
|
Hyperemia [MESH:D006940] (2372) |
|
|
Hypotension [MESH:D007022] (4045) |
|
|
Varicose Veins [MESH:D014648] (383) |
|
|
Vascular System Injuries [MESH:D057772] (2086) |
|
|
Coronary Aneurysm [MESH:D003323] (204) |
|
|
|
|
|
Aortic aneurysm, familial thoracic 3 [MESH:C537783] (107) |
|
|
Loeys-Dietz Syndrome, Type 1b [MESH:C567181] (107) |
|
|
|
|
|
Aortic aneurysm, familial thoracic 3 [MESH:C537783] (107) |
|
|
Aortic aneurysm, familial thoracic 4 [MESH:C537784] (29) |
|
|
Aortic Aneurysm, Familial Thoracic 6 [MESH:C567085] (221) |
|
|
Loeys-Dietz Syndrome, Type 1b [MESH:C567181] (107) |
|
|
Aortic aneurysm, familial thoracic 3 [MESH:C537783] (107) |
|
|
Loeys-Dietz Syndrome, Type 1b [MESH:C567181] (107) |
|
|
Acquired angioedema [MESH:C538173] (157) |
|
|
Hereditary Angioedema Types I and II [MESH:D056829] (111) |
|
|
|
|
|
|
|
|
Aortic aneurysm, familial thoracic 3 [MESH:C537783] (107) |
|
|
Aortic aneurysm, familial thoracic 4 [MESH:C537784] (29) |
|
|
Aortic Aneurysm, Familial Thoracic 6 [MESH:C567085] (221) |
|
|
Loeys-Dietz Syndrome, Type 1b [MESH:C567181] (107) |
|
|
Aortic aneurysm, familial thoracic 3 [MESH:C537783] (107) |
|
|
Loeys-Dietz Syndrome, Type 1b [MESH:C567181] (107) |
|
|
Carotid Stenosis [MESH:D016893] (174) |
|
|
Coronary Artery Disease [MESH:D003324] (2685) |
|
|
Carotid Intimal Medial Thickness 1 [MESH:C563733] (457) |
|
|
Venous Malformations, Multiple Cutaneous and Mucosal [MESH:C563977] (62) |
|
|
Vasospasm, Intracranial [MESH:D020301] (324) |
|
|
|
|
|
|
|
|
Infarction, Middle Cerebral Artery [MESH:D020244] (2268) |
|
|
Carotid Stenosis [MESH:D016893] (174) |
|
|
|
|
|
Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333) |
|
|
|
|
|
Infarction, Middle Cerebral Artery [MESH:D020244] (2268) |
|
|
|
|
|
Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333) |
|
|
Intracranial Thrombosis [MESH:D020767] (481) |
|
|
|
|
|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type [MESH:C537944] (333) |
|
|
Hematoma, Subdural [MESH:D006408] (212) |
|
|
|
|
|
|
|
|
Infarction, Middle Cerebral Artery [MESH:D020244] (2268) |
|
|
|
|
|
Pulmonary Embolism [MESH:D011655] (1118) |
|
|
Embolism, Cholesterol [MESH:D017700] (255) |
|
|
Venous Thromboembolism [MESH:D054556] (400) |
|
|
Intracranial Thrombosis [MESH:D020767] (481) |
|
|
Coronary Thrombosis [MESH:D003328] (255) |
|
|
Venous Thrombosis [MESH:D020246] (1141) |
|
|
Venous Thromboembolism [MESH:D054556] (400) |
|
|
Intracranial Thrombosis [MESH:D020767] (481) |
|
|
Multiple Myeloma [MESH:D009101] (2765) |
|
|
Ehlers-Danlos syndrome type 1 [MESH:C536194] (344) |
|
|
Ehlers-Danlos syndrome type 2 [MESH:C536195] (55) |
|
|
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant [MESH:C562625] (375) |
|
|
Hypertension, Essential [MESH:C562386] (1308) |
|
|
Acute Coronary Syndrome [MESH:D054058] (2286) |
|
|
Myocardial Reperfusion Injury [MESH:D015428] (3500) |
|
|
Myocardial Stunning [MESH:D017682] (1816) |
|
|
Acute Coronary Syndrome [MESH:D054058] (2286) |
|
|
Angina, Stable [MESH:D060050] (1702) |
|
|
Coronary Aneurysm [MESH:D003323] (204) |
|
|
Coronary Artery Disease [MESH:D003324] (2685) |
|
|
Coronary Thrombosis [MESH:D003328] (255) |
|
|
Coronary Restenosis [MESH:D023903] (1683) |
|
|
Myocardial Stunning [MESH:D017682] (1816) |
|
|
No-Reflow Phenomenon [MESH:D054318] (277) |
|
|
Shock, Cardiogenic [MESH:D012770] (269) |
|
|
|
|
|
Aortic Aneurysm, Familial Thoracic 6 [MESH:C567085] (221) |
|
|
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps [MESH:C567088] (77) |
|
|
Myocardial Reperfusion Injury [MESH:D015428] (3500) |
|
|
Arteritis [MESH:D001167] (1084) |
|
|
Behcet Syndrome [MESH:D001528] (1784) |
|
|
Corneal dystrophy, epithelial basement membrane [MESH:C535477] (76) |
|
 |
C15. Hemic and Lymphatic Diseases |
 |
 |
|
C15. Hemic and Lymphatic Diseases |
|
|
Not Fully Specified [NFS] (453) |
|
|
Methemoglobinemia [MESH:D008708] (850) |
|
|
Polycythemia [MESH:D011086] (412) |
|
|
Anemia, Refractory [MESH:D000753] (1567) |
|
|
|
|
|
Fanconi Anemia [MESH:D005199] (1604) |
|
|
Diamond-Blackfan Anemia 8 [MESH:C567253] (45) |
|
|
Diamond-Blackfan Anemia 4 [MESH:C567281] (30) |
|
|
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to [MESH:C565557] (312) |
|
|
CD59 Deficiency [MESH:C567355] (57) |
|
|
Anemia, Hemolytic, Autoimmune [MESH:D000744] (117) |
|
|
Favism [MESH:D005236] (193) |
|
|
Heinz Body Anemias [MESH:C563030] (127) |
|
|
Anemia, Hemolytic, Congenital Nonspherocytic [MESH:D000746] (308) |
|
|
Anemia, Sickle Cell [MESH:D000755] (1722) |
|
|
Favism [MESH:D005236] (193) |
|
|
alpha-Thalassemia [MESH:D017085] (176) |
|
|
beta-Thalassemia [MESH:D017086] (458) |
|
|
Atypical hemolytic uremic syndrome [MESH:C538266] (277) |
|
|
Anemia, hypochromic microcytic [MESH:C536357] (164) |
|
|
Anemia, Megaloblastic [MESH:D000749] (288) |
|
|
|
|
|
Diamond-Blackfan Anemia 8 [MESH:C567253] (45) |
|
|
Diamond-Blackfan Anemia 4 [MESH:C567281] (30) |
|
|
Disseminated Intravascular Coagulation [MESH:D004211] (462) |
|
|
Activated Protein C Resistance [MESH:D020016] (140) |
|
|
Afibrinogenemia congenital [MESH:C531603] (280) |
|
|
Activated Protein C Resistance [MESH:D020016] (140) |
|
|
Afibrinogenemia congenital [MESH:C531603] (280) |
|
|
Ethylmalonic encephalopathy [MESH:C535737] (27) |
|
|
Purpura, Thrombotic Thrombocytopenic [MESH:D011697] (222) |
|
|
|
|
|
|
|
|
|
|
|
Atypical hemolytic uremic syndrome [MESH:C538266] (277) |
|
|
Purpura, Thrombotic Thrombocytopenic [MESH:D011697] (222) |
|
|
Hypergammaglobulinemia [MESH:D006942] (137) |
|
|
Multiple Myeloma [MESH:D009101] (2765) |
|
|
|
|
|
|
|
|
Fanconi Anemia [MESH:D005199] (1604) |
|
|
Diamond-Blackfan Anemia 8 [MESH:C567253] (45) |
|
|
Diamond-Blackfan Anemia 4 [MESH:C567281] (30) |
|
|
Leukemia, Myelomonocytic, Juvenile [MESH:D054429] (344) |
|
|
Anemia, Refractory [MESH:D000753] (1567) |
|
|
Leukemia, Myelogenous, Chronic, BCR-ABL Positive [MESH:D015464] (1032) |
|
|
Polycythemia Vera [MESH:D011087] (244) |
|
|
Anemia, Sickle Cell [MESH:D000755] (1722) |
|
|
alpha-Thalassemia [MESH:D017085] (192) |
|
|
beta-Thalassemia [MESH:D017086] (458) |
|
|
Disseminated Intravascular Coagulation [MESH:D004211] (462) |
|
|
Afibrinogenemia congenital [MESH:C531603] (280) |
|
|
Multiple Myeloma [MESH:D009101] (2765) |
|
|
Ehlers-Danlos syndrome type 1 [MESH:C536194] (344) |
|
|
Ehlers-Danlos syndrome type 2 [MESH:C536195] (55) |
|
|
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant [MESH:C562625] (375) |
|
|
Leukostasis [MESH:D018921] (769) |
|
|
Hypereosinophilic Syndrome [MESH:D017681] (119) |
|
|
|
|
|
Neutropenia [MESH:D009503] (1629) |
|
|
Granulomatous Disease, Chronic [MESH:D006105] (404) |
|
|
Job Syndrome [MESH:D007589] (772) |
|
|
Activated Protein C Resistance [MESH:D020016] (140) |
|
|
Disseminated Intravascular Coagulation [MESH:D004211] (462) |
|
|
Purpura, Thrombotic Thrombocytopenic [MESH:D011697] (222) |
|
|
|
|
|
|
|
|
Sea-Blue Histiocyte Syndrome [MESH:D012618] (165) |
|
|
Niemann-Pick Disease, Type A [MESH:D052536] (44) |
|
|
Niemann-Pick Disease, Type B [MESH:D052537] (44) |
|
|
|
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Autoimmune Lymphoproliferative Syndrome [MESH:D056735] (704) |
|
|
|
|
|
Leukemia, Lymphocytic, Chronic, B-Cell [MESH:D015451] (2562) |
|
|
Leukemia-Lymphoma, Adult T-Cell [MESH:D015459] (138) |
|
|
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054218] (510) |
|
|
Hodgkin Disease [MESH:D006689] (1082) |
|
|
Burkitt Lymphoma [MESH:D002051] (691) |
|
|
Lymphoma, Large-Cell, Anaplastic [MESH:D017728] (420) |
|
|
Lymphoma, Mantle-Cell [MESH:D020522] (561) |
|
|
Burkitt Lymphoma [MESH:D002051] (691) |
|
|
Lymphoma, Large B-Cell, Diffuse [MESH:D016403] (2012) |
|
|
Lymphoma, T-Cell, Cutaneous [MESH:D016410] (912) |
|
|
Hypersplenism [MESH:D006971] (341) |
|
|
Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome [MESH:C565249] (17) |
|
 |
C16. Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
 |
 |
|
C16. Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
|
|
|
|
|
Abnormalities, Drug-Induced [MESH:D000014] (1024) |
|
|
Respiratory System Abnormalities [MESH:D015619] (244) |
|
|
Keutel syndrome [MESH:C536167] (102) |
|
|
Coffin-Siris syndrome [MESH:C536436] (102) |
|
|
Ulnar-mammary syndrome [MESH:C536937] (57) |
|
|
Pierson syndrome [MESH:C537185] (33) |
|
|
Beckwith-Wiedemann Syndrome [MESH:D001506] (193) |
|
|
Costello Syndrome [MESH:D056685] (407) |
|
|
LEOPARD Syndrome [MESH:D044542] (299) |
|
|
Marfan Syndrome [MESH:D008382] (646) |
|
|
Prolidase Deficiency [MESH:D056732] (46) |
|
|
Rubinstein-Taybi Syndrome [MESH:D012415] (149) |
|
|
Zellweger Syndrome [MESH:D015211] (182) |
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Cardiofaciocutaneous syndrome [MESH:C535579] (407) |
|
|
Naegeli syndrome [MESH:C538331] (38) |
|
|
Focal Dermal Hypoplasia [MESH:D005489] (22) |
|
|
Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome [MESH:C565249] (17) |
|
|
Aortic aneurysm, familial thoracic 3 [MESH:C537783] (107) |
|
|
Loeys-Dietz Syndrome, Type 1b [MESH:C567181] (107) |
|
|
|
|
|
Cardiac valvular dysplasia, X-linked [MESH:C535576] (36) |
|
|
Cardiofaciocutaneous syndrome [MESH:C535579] (407) |
|
|
Coronary Vessel Anomalies [MESH:D003330] (317) |
|
|
Hypoplastic Left Heart Syndrome [MESH:D018636] (194) |
|
|
LEOPARD Syndrome [MESH:D044542] (299) |
|
|
Marfan Syndrome [MESH:D008382] (646) |
|
|
Noonan Syndrome [MESH:D009634] (506) |
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Aortic aneurysm, familial thoracic 4 [MESH:C537784] (29) |
|
|
Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome [MESH:C565249] (17) |
|
|
Truncus Arteriosus, Persistent [MESH:D014339] (45) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
Atrial Septal Defect 5 [MESH:C567561] (51) |
|
|
Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome [MESH:C565249] (17) |
|
|
|
|
|
Venous Malformations, Multiple Cutaneous and Mucosal [MESH:C563977] (62) |
|
|
Beckwith-Wiedemann Syndrome [MESH:D001506] (193) |
|
|
Rubinstein-Taybi Syndrome [MESH:D012415] (149) |
|
|
WAGR Syndrome [MESH:D017624] (270) |
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Fragile X Syndrome [MESH:D005600] (353) |
|
|
Hirschsprung Disease [MESH:D006627] (361) |
|
|
Opitz-Kaveggia syndrome [MESH:C537923] (64) |
|
|
Pierson syndrome [MESH:C537185] (33) |
|
|
Peters anomaly [MESH:C537884] (465) |
|
|
Oculodentodigital Dysplasia [MESH:C563160] (192) |
|
|
Oculodentodigital Dysplasia, Autosomal Recessive [MESH:C567605] (192) |
|
|
Coloboma [MESH:D003103] (315) |
|
|
WAGR Syndrome [MESH:D017624] (270) |
|
|
|
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Campomelic Dysplasia [MESH:D055036] (75) |
|
|
Distal arthrogryposis type 2B [MESH:C538400] (85) |
|
|
Oto-Palato-digital syndrome type 1 [MESH:C536065] (46) |
|
|
Oto-palato-digital syndrome, type 2 [MESH:C538089] (36) |
|
|
Oculodentodigital Dysplasia [MESH:C563160] (192) |
|
|
Oculodentodigital Dysplasia, Autosomal Recessive [MESH:C567605] (192) |
|
|
LEOPARD Syndrome [MESH:D044542] (299) |
|
|
Microcephaly [MESH:D008831] (700) |
|
|
Noonan Syndrome [MESH:D009634] (506) |
|
|
Rubinstein-Taybi Syndrome [MESH:D012415] (149) |
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Hallermann's Syndrome [MESH:D006210] (193) |
|
|
Craniosynostosis radial aplasia syndrome [MESH:C536788] (30) |
|
|
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy [MESH:C567020] (21) |
|
|
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis [MESH:C567770] (35) |
|
|
|
|
|
Cleft Palate [MESH:D002972] (1330) |
|
|
Coffin-Siris syndrome [MESH:C536436] (102) |
|
|
Pierre Robin syndrome with fetal chondrodysplasia [MESH:C535776] (16) |
|
|
|
|
|
Craniosynostosis radial aplasia syndrome [MESH:C536788] (30) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
Oculodentodigital Dysplasia [MESH:C563160] (192) |
|
|
Synpolydactyly 2 [MESH:C564278] (43) |
|
|
Oto-Palato-digital syndrome type 1 [MESH:C536065] (46) |
|
|
Keutel syndrome [MESH:C536167] (102) |
|
|
Coffin-Siris syndrome [MESH:C536436] (102) |
|
|
Oto-palato-digital syndrome, type 2 [MESH:C538089] (36) |
|
|
Synpolydactyly 2 [MESH:C564278] (43) |
|
|
Synpolydactyly 2 [MESH:C564278] (43) |
|
|
Syndactyly, type 3 [MESH:C538154] (192) |
|
|
Oculodentodigital Dysplasia [MESH:C563160] (192) |
|
|
Oculodentodigital Dysplasia, Autosomal Recessive [MESH:C567605] (192) |
|
|
|
|
|
Craniosynostosis radial aplasia syndrome [MESH:C536788] (30) |
|
|
Syndactyly, type 3 [MESH:C538154] (192) |
|
|
Oculodentodigital Dysplasia [MESH:C563160] (192) |
|
|
Oculodentodigital Dysplasia, Autosomal Recessive [MESH:C567605] (192) |
|
|
|
|
|
Chudley-Mccullough syndrome [MESH:C535459] (45) |
|
|
Opitz-Kaveggia syndrome [MESH:C537923] (64) |
|
|
|
|
|
Chudley-Mccullough syndrome [MESH:C535459] (45) |
|
|
|
|
|
Charcot-Marie-Tooth disease, Type 4B1 [MESH:C535420] (16) |
|
|
Neuropathy, hereditary motor and sensory, LOM type [MESH:C535716] (131) |
|
|
Charcot-Marie-Tooth disease, Type 1F [MESH:C537987] (89) |
|
|
Charcot-Marie-Tooth disease, Type 2E [MESH:C537994] (89) |
|
|
Hereditary Motor And Sensory Neuropathy, Type IIC [MESH:C565261] (39) |
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2a1 [MESH:C566138] (54) |
|
|
Neuropathy, hereditary motor and sensory, LOM type [MESH:C535716] (131) |
|
|
Neuropathy, Hereditary Sensory And Autonomic, Type IIB [MESH:C567738] (28) |
|
|
Lissencephaly [MESH:D054082] (218) |
|
|
Microcephaly [MESH:D008831] (700) |
|
|
Tuberous Sclerosis [MESH:D014402] (635) |
|
|
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy [MESH:C567020] (21) |
|
|
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis [MESH:C567770] (35) |
|
|
|
|
|
Heterotopia, Periventricular, Ehlers-Danlos Variant [MESH:C564492] (36) |
|
|
Spinal Dysraphism [MESH:D016135] (1025) |
|
|
Prolidase Deficiency [MESH:D056732] (46) |
|
|
Cardiofaciocutaneous syndrome [MESH:C535579] (407) |
|
|
Naegeli syndrome [MESH:C538331] (38) |
|
|
Focal Dermal Hypoplasia [MESH:D005489] (22) |
|
|
Ehlers-Danlos syndrome type 1 [MESH:C536194] (344) |
|
|
Ehlers-Danlos syndrome type 2 [MESH:C536195] (55) |
|
|
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant [MESH:C562625] (375) |
|
|
|
|
|
Epidermolysis Bullosa, Junctional, Non-Herlitz Type [MESH:C562639] (150) |
|
|
Epidermolysis bullosa simplex with mottled pigmentation [MESH:C535959] (53) |
|
|
Epidermolysis Bullosa Simplex, Autosomal Recessive [MESH:C563408] (38) |
|
|
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema [MESH:C563730] (53) |
|
|
Keratosis Follicularis Spinulosa Decalvans, X-Linked [MESH:C536159] (78) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
|
|
|
|
|
|
Cleft Palate [MESH:D002972] (1330) |
|
|
Coffin-Siris syndrome [MESH:C536436] (102) |
|
|
Pierre Robin syndrome with fetal chondrodysplasia [MESH:C535776] (16) |
|
|
Cleft Palate [MESH:D002972] (1330) |
|
|
Oculodentodigital Dysplasia [MESH:C563160] (192) |
|
|
Oculodentodigital Dysplasia, Autosomal Recessive [MESH:C567605] (192) |
|
|
|
|
|
|
|
|
Cortisone reductase deficiency [MESH:C536447] (136) |
|
|
Mullerian Aplasia and Hyperandrogenism [MESH:C567186] (57) |
|
|
Androgen-Insensitivity Syndrome [MESH:D013734] (567) |
|
|
Denys-Drash Syndrome [MESH:D030321] (57) |
|
|
Frasier Syndrome [MESH:D052159] (57) |
|
|
WAGR Syndrome [MESH:D017624] (270) |
|
|
Meacham Winn Culler syndrome [MESH:C538162] (57) |
|
|
Adrenal Hyperplasia, Congenital [MESH:D000312] (674) |
|
|
Mullerian Aplasia and Hyperandrogenism [MESH:C567186] (57) |
|
|
|
|
|
Meacham Winn Culler syndrome [MESH:C538162] (57) |
|
|
Hypospadias 1, X-Linked [MESH:C567482] (571) |
|
|
Fetal Growth Retardation [MESH:D005317] (986) |
|
|
Cirrhosis, Familial [MESH:C566123] (179) |
|
|
Adrenal Hyperplasia, Congenital [MESH:D000312] (674) |
|
|
Angioedemas, Hereditary [MESH:D054179] (172) |
|
|
Autoimmune Lymphoproliferative Syndrome [MESH:D056735] (704) |
|
|
Costello Syndrome [MESH:D056685] (407) |
|
|
Frasier Syndrome [MESH:D052159] (57) |
|
|
Marfan Syndrome [MESH:D008382] (646) |
|
|
Osteoarthropathy, Primary Hypertrophic [MESH:D010004] (94) |
|
|
Heinz Body Anemias [MESH:C563030] (127) |
|
|
Anemia, Hemolytic, Congenital Nonspherocytic [MESH:D000746] (308) |
|
|
Anemia, Sickle Cell [MESH:D000755] (1722) |
|
|
Favism [MESH:D005236] (193) |
|
|
alpha-Thalassemia [MESH:D017085] (176) |
|
|
beta-Thalassemia [MESH:D017086] (458) |
|
|
Fanconi Anemia [MESH:D005199] (1604) |
|
|
Diamond-Blackfan Anemia 8 [MESH:C567253] (45) |
|
|
Diamond-Blackfan Anemia 4 [MESH:C567281] (30) |
|
|
Activated Protein C Resistance [MESH:D020016] (140) |
|
|
Afibrinogenemia congenital [MESH:C531603] (280) |
|
|
Cardiomyopathy, Familial Hypertrophic, 1 [MESH:C566005] (190) |
|
|
Cardiomyopathy, Familial Hypertrophic, 3 [MESH:C566170] (103) |
|
|
Cardiomyopathy, Familial Hypertrophic, 2 [MESH:C566171] (50) |
|
|
Cardiomyopathy, Familial Hypertrophic, 11 [MESH:C567419] (51) |
|
|
Beckwith-Wiedemann Syndrome [MESH:D001506] (193) |
|
|
Rubinstein-Taybi Syndrome [MESH:D012415] (149) |
|
|
WAGR Syndrome [MESH:D017624] (270) |
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Fragile X Syndrome [MESH:D005600] (353) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
Parastremmatic dwarfism [MESH:C537172] (39) |
|
|
Metatropic dwarfism [MESH:C537356] (39) |
|
|
Congenital Hypothyroidism [MESH:D003409] (266) |
|
|
Laron Syndrome [MESH:D046150] (91) |
|
|
Basal Laminar Drusen [MESH:C563034] (52) |
|
|
|
|
|
Griscelli syndrome type 2 [MESH:C537302] (30) |
|
|
Griscelli syndrome type 3 [MESH:C537303] (28) |
|
|
WAGR Syndrome [MESH:D017624] (270) |
|
|
Corneal dystrophy and perceptive deafness [MESH:C535473] (17) |
|
|
Corneal dystrophy Avellino type [MESH:C535474] (76) |
|
|
Corneal dystrophy of Bowman layer, type 1 [MESH:C535476] (76) |
|
|
Doyne honeycomb retinal dystrophy [MESH:C535602] (44) |
|
|
Corneal dystrophy, Thiel-Behnke type [MESH:C535942] (76) |
|
|
Groenouw type I corneal dystrophy [MESH:C537304] (76) |
|
|
Meretoja syndrome [MESH:C537459] (95) |
|
|
Lattice corneal dystrophy type 1 [MESH:C537881] (76) |
|
|
Macular Dystrophy, Retinal, 2 [MESH:C562746] (63) |
|
|
Corneal Dystrophy, Posterior Polymorphous, 3 [MESH:C563788] (60) |
|
|
Corneal Dystrophy, Lattice Type IIIA [MESH:C563923] (76) |
|
|
Corneal Dystrophy, Congenital Stromal [MESH:C566452] (90) |
|
|
Corneal Dystrophy, Juvenile Epithelial of Meesmann [MESH:D053559] (12) |
|
|
Corneal endothelial dystrophy type 2 [MESH:C536439] (17) |
|
|
Corneal Dystrophy, Fuchs Endothelial, 6 [MESH:C567675] (60) |
|
|
Corneal Dystrophy, Fuchs Endothelial, 4 [MESH:C567677] (17) |
|
|
Optic Atrophy, Hereditary, Leber [MESH:D029242] (1100) |
|
|
Cone-Rod Dystrophy 10 [MESH:C564597] (30) |
|
|
Retinitis Pigmentosa 35 [MESH:C565206] (30) |
|
|
Leber Congenital Amaurosis 3 [MESH:C565814] (38) |
|
|
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract [MESH:C567203] (27) |
|
|
Cone-Rod Dystrophy 12 [MESH:C567206] (63) |
|
|
Retinitis Pigmentosa 41 [MESH:C567422] (63) |
|
|
Congenital idiopathic intestinal pseudoobstruction [MESH:C535532] (36) |
|
|
Cardiac valvular dysplasia, X-linked [MESH:C535576] (36) |
|
|
Keratosis Follicularis Spinulosa Decalvans, X-Linked [MESH:C536159] (78) |
|
|
Brunner Syndrome [MESH:C563156] (124) |
|
|
Leigh Syndrome, X-Linked [MESH:C564114] (33) |
|
|
Heterotopia, Periventricular, Ehlers-Danlos Variant [MESH:C564492] (36) |
|
|
Phosphoglycerate Kinase 1 Deficiency [MESH:C567067] (98) |
|
|
Myopathy, Reducing Body, X-Linked, Childhood-Onset [MESH:C567468] (64) |
|
|
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe [MESH:C567469] (64) |
|
|
Hypospadias 1, X-Linked [MESH:C567482] (571) |
|
|
Androgen-Insensitivity Syndrome [MESH:D013734] (567) |
|
|
Focal Dermal Hypoplasia [MESH:D005489] (22) |
|
|
Granulomatous Disease, Chronic [MESH:D006105] (404) |
|
|
Bulbospinal neuronopathy, X-linked recessive [MESH:C537017] (565) |
|
|
Opitz-Kaveggia syndrome [MESH:C537923] (64) |
|
|
Mental Retardation, X-Linked 3 [MESH:C563136] (30) |
|
|
Mental Retardation, X-Linked 17 [MESH:C563140] (41) |
|
|
Mental Retardation, X-Linked 46 [MESH:C564513] (17) |
|
|
Mental Retardation, X-Linked 63 [MESH:C564522] (64) |
|
|
Mental Retardation, X-Linked, Syndromic 10 [MESH:C564560] (54) |
|
|
Mental Retardation, X-Linked 58 [MESH:C564566] (32) |
|
|
Mental Retardation, X-Linked, Syndromic 14 [MESH:C567063] (30) |
|
|
Mental Retardation, X-Linked 95 [MESH:C567470] (20) |
|
|
Fragile X Syndrome [MESH:D005600] (353) |
|
|
Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149) |
|
|
Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129) |
|
|
Myopathy, X-Linked, With Postural Muscle Atrophy [MESH:C567480] (64) |
|
|
Scapuloperoneal Myopathy, X-Linked Dominant [MESH:C567481] (64) |
|
|
Anemia, Sickle Cell [MESH:D000755] (1722) |
|
|
alpha-Thalassemia [MESH:D017085] (192) |
|
|
beta-Thalassemia [MESH:D017086] (458) |
|
|
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type [MESH:C566695] (62) |
|
|
Hepatolenticular Degeneration [MESH:D006527] (473) |
|
|
Huntington Disease [MESH:D006816] (540) |
|
|
Tuberous Sclerosis [MESH:D014402] (635) |
|
|
|
|
|
Charcot-Marie-Tooth disease, Type 4B1 [MESH:C535420] (16) |
|
|
Neuropathy, hereditary motor and sensory, LOM type [MESH:C535716] (131) |
|
|
Charcot-Marie-Tooth disease, Type 1F [MESH:C537987] (89) |
|
|
Charcot-Marie-Tooth disease, Type 2E [MESH:C537994] (89) |
|
|
Hereditary Motor And Sensory Neuropathy, Type IIC [MESH:C565261] (39) |
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2a1 [MESH:C566138] (54) |
|
|
Neuropathy, hereditary motor and sensory, LOM type [MESH:C535716] (131) |
|
|
Neuropathy, Hereditary Sensory And Autonomic, Type IIB [MESH:C567738] (28) |
|
|
Opitz-Kaveggia syndrome [MESH:C537923] (64) |
|
|
Mental Retardation, X-Linked 3 [MESH:C563136] (30) |
|
|
Mental Retardation, X-Linked 17 [MESH:C563140] (41) |
|
|
Mental Retardation, X-Linked 46 [MESH:C564513] (17) |
|
|
Mental Retardation, X-Linked 63 [MESH:C564522] (64) |
|
|
Mental Retardation, X-Linked, Syndromic 10 [MESH:C564560] (54) |
|
|
Mental Retardation, X-Linked 58 [MESH:C564566] (32) |
|
|
Mental Retardation, X-Linked, Syndromic 14 [MESH:C567063] (30) |
|
|
Mental Retardation, X-Linked 95 [MESH:C567470] (20) |
|
|
Fragile X Syndrome [MESH:D005600] (353) |
|
|
Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149) |
|
|
Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129) |
|
|
Dystrophia myotonica 1 [MESH:C538008] (25) |
|
|
Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946) |
|
|
Ceroid Lipofuscinosis, Neuronal, 10 [MESH:C566438] (159) |
|
|
Ceroid lipofuscinosis, neuronal 5 [MESH:C575534] (11) |
|
|
Optic Atrophy, Hereditary, Leber [MESH:D029242] (1100) |
|
|
Spinocerebellar Ataxia 29 [MESH:C537206] (90) |
|
|
Spinocerebellar Ataxia 15 [MESH:C564685] (90) |
|
|
Spinocerebellar Ataxia 12 [MESH:C565790] (36) |
|
|
Spinocerebellar Ataxia 10 [MESH:C566874] (24) |
|
|
Aortic aneurysm, familial thoracic 3 [MESH:C537783] (107) |
|
|
Loeys-Dietz Syndrome, Type 1b [MESH:C567181] (107) |
|
|
3-Methylglutaconic Aciduria, Type I [MESH:C562801] (29) |
|
|
Coumarin Resistance [MESH:C563039] (397) |
|
|
Hypoproteinemia, Hypercatabolic [MESH:C565476] (99) |
|
|
Phosphoglycerate Kinase 1 Deficiency [MESH:C567067] (98) |
|
|
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency [MESH:C567784] (102) |
|
|
Alpha-ketoglutarate dehydrogenase deficiency [MESH:C536582] (59) |
|
|
Glutamine deficiency, congenital [MESH:C536832] (117) |
|
|
Acidemia, isovaleric [MESH:C538167] (47) |
|
|
Methylmalonic Aciduria and Homocystinuria, CblF Type [MESH:C564747] (21) |
|
|
Methylmalonyl-CoA Epimerase Deficiency [MESH:C565386] (19) |
|
|
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of [MESH:C567006] (27) |
|
|
Hyperglycinemia, Nonketotic [MESH:D020158] (67) |
|
|
Hyperhomocysteinemia [MESH:D020138] (1724) |
|
|
Prolidase Deficiency [MESH:D056732] (46) |
|
|
Propionic Acidemia [MESH:D056693] (60) |
|
|
|
|
|
Griscelli syndrome type 2 [MESH:C537302] (30) |
|
|
Griscelli syndrome type 3 [MESH:C537303] (28) |
|
|
3-methylcrotonyl CoA carboxylase 2 deficiency [MESH:C535309] (32) |
|
|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type [MESH:C537944] (333) |
|
|
Amyloidosis, familial visceral [MESH:C538249] (285) |
|
|
Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333) |
|
|
Ethylmalonic encephalopathy [MESH:C535737] (27) |
|
|
Hepatolenticular Degeneration [MESH:D006527] (473) |
|
|
Hyperglycinemia, Nonketotic [MESH:D020158] (67) |
|
|
Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149) |
|
|
Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333) |
|
|
|
|
|
Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129) |
|
|
Leigh Syndrome, X-Linked [MESH:C564114] (33) |
|
|
|
|
|
Neuraminidase 1 deficiency [MESH:C537366] (31) |
|
|
Sea-Blue Histiocyte Syndrome [MESH:D012618] (165) |
|
|
Niemann-Pick Disease, Type A [MESH:D052536] (44) |
|
|
Niemann-Pick Disease, Type B [MESH:D052537] (44) |
|
|
Peroxisome biogenesis disorders [MESH:C536664] (101) |
|
|
Zellweger Syndrome [MESH:D015211] (182) |
|
|
Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129) |
|
|
Neuropathy, hereditary motor and sensory, LOM type [MESH:C535716] (131) |
|
|
3-methylcrotonyl CoA carboxylase 2 deficiency [MESH:C535309] (32) |
|
|
Glucosephosphate Dehydrogenase Deficiency [MESH:D005955] (195) |
|
|
Congenital Disorder Of Glycosylation, Type IIF [MESH:C567040] (16) |
|
|
Primary hyperoxaluria type 2 [MESH:C536415] (25) |
|
|
Neuraminidase 1 deficiency [MESH:C537366] (31) |
|
|
Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149) |
|
|
Leigh Syndrome, X-Linked [MESH:C564114] (33) |
|
|
Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency [MESH:C536080] (41) |
|
|
Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129) |
|
|
Carnitine Palmitoyltransferase II Deficiency, Late-Onset [MESH:C563461] (52) |
|
|
Carnitine Palmitoyltransferase II Deficiency, Infantile [MESH:C563462] (52) |
|
|
Neutral Lipid Storage Disease with Myopathy [MESH:C565192] (58) |
|
|
Hyperlipoproteinemia Type II [MESH:D006938] (707) |
|
|
Hyperlipoproteinemia Type III [MESH:D006952] (181) |
|
|
Xanthomatosis, Cerebrotendinous [MESH:D019294] (90) |
|
|
Hypoalphalipoproteinemias [MESH:D052456] (323) |
|
|
Chylomicron retention disease [MESH:C535460] (23) |
|
|
|
|
|
Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946) |
|
|
Ceroid Lipofuscinosis, Neuronal, 10 [MESH:C566438] (159) |
|
|
Ceroid lipofuscinosis, neuronal 5 [MESH:C575534] (11) |
|
|
Sea-Blue Histiocyte Syndrome [MESH:D012618] (165) |
|
|
Niemann-Pick Disease, Type A [MESH:D052536] (44) |
|
|
Niemann-Pick Disease, Type B [MESH:D052537] (44) |
|
|
Lipodystrophy, Congenital Generalized, Type 3 [MESH:C567282] (145) |
|
|
|
|
|
|
|
|
Neuraminidase 1 deficiency [MESH:C537366] (31) |
|
|
Sea-Blue Histiocyte Syndrome [MESH:D012618] (165) |
|
|
Niemann-Pick Disease, Type A [MESH:D052536] (44) |
|
|
Niemann-Pick Disease, Type B [MESH:D052537] (44) |
|
|
Congenital atransferrinemia [MESH:C538259] (145) |
|
|
Hemochromatosis [MESH:D006432] (1694) |
|
|
Hepatolenticular Degeneration [MESH:D006527] (473) |
|
|
Hypophosphatasia, Childhood [MESH:C562440] (137) |
|
|
Hypophosphatasia, Infantile [MESH:C562646] (137) |
|
|
Hypophosphatasia, Adult [MESH:C562647] (137) |
|
|
Peroxisome biogenesis disorders [MESH:C536664] (101) |
|
|
Acatalasia [MESH:D020642] (788) |
|
|
Zellweger Syndrome [MESH:D015211] (182) |
|
|
Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129) |
|
|
Neuropathy, hereditary motor and sensory, LOM type [MESH:C535716] (131) |
|
|
|
|
|
Porphyria Cutanea Tarda [MESH:D017119] (766) |
|
|
Cortisone reductase deficiency [MESH:C536447] (136) |
|
|
Lathosterolosis [MESH:C537880] (66) |
|
|
Adrenal Hyperplasia, Congenital [MESH:D000312] (674) |
|
|
Bethlem myopathy [MESH:C535436] (108) |
|
|
Scleroatonic muscular dystrophy [MESH:C537521] (108) |
|
|
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency [MESH:C567709] (41) |
|
|
Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854) |
|
|
Muscular Dystrophy, Oculopharyngeal [MESH:D039141] (32) |
|
|
Myopathy, X-Linked, With Postural Muscle Atrophy [MESH:C567480] (64) |
|
|
Scapuloperoneal Myopathy, X-Linked Dominant [MESH:C567481] (64) |
|
|
Dystrophia myotonica 1 [MESH:C538008] (25) |
|
|
Meningioma, familial [MESH:C537443] (195) |
|
|
Birt-Hogg-Dube Syndrome [MESH:D058249] (35) |
|
|
Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (260) |
|
|
Li-Fraumeni Syndrome [MESH:D016864] (859) |
|
|
Tuberous Sclerosis [MESH:D014402] (635) |
|
|
Metachondromatosis [MESH:C562938] (49) |
|
|
Denys-Drash Syndrome [MESH:D030321] (57) |
|
|
WAGR Syndrome [MESH:D017624] (270) |
|
|
Osteogenesis imperfecta, type 2A [MESH:C536042] (375) |
|
|
Osteogenesis imperfecta, type 3 [MESH:C536044] (375) |
|
|
Osteogenesis imperfecta, type 4 [MESH:C536045] (375) |
|
|
Keratosis Follicularis Spinulosa Decalvans, X-Linked [MESH:C536159] (78) |
|
|
dowling-degos disease [MESH:C562924] (53) |
|
|
Darier Disease [MESH:D007644] (125) |
|
|
Dermatitis, Atopic [MESH:D003876] (2052) |
|
|
Leukokeratosis, Hereditary Mucosal [MESH:D053529] (51) |
|
|
Prolidase Deficiency [MESH:D056732] (46) |
|
|
|
|
|
Griscelli syndrome type 2 [MESH:C537302] (30) |
|
|
Griscelli syndrome type 3 [MESH:C537303] (28) |
|
|
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis [MESH:C567770] (35) |
|
|
Cardiofaciocutaneous syndrome [MESH:C535579] (407) |
|
|
Naegeli syndrome [MESH:C538331] (38) |
|
|
Focal Dermal Hypoplasia [MESH:D005489] (22) |
|
|
Ehlers-Danlos syndrome type 1 [MESH:C536194] (344) |
|
|
Ehlers-Danlos syndrome type 2 [MESH:C536195] (55) |
|
|
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant [MESH:C562625] (375) |
|
|
|
|
|
Epidermolysis Bullosa, Junctional, Non-Herlitz Type [MESH:C562639] (150) |
|
|
Epidermolysis bullosa simplex with mottled pigmentation [MESH:C535959] (53) |
|
|
Epidermolysis Bullosa Simplex, Autosomal Recessive [MESH:C563408] (38) |
|
|
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema [MESH:C563730] (53) |
|
|
Naegeli syndrome [MESH:C538331] (38) |
|
|
Porphyria Cutanea Tarda [MESH:D017119] (766) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal [MESH:C563463] (52) |
|
|
Asphyxia Neonatorum [MESH:D001238] (1648) |
|
|
Hyperostosis, Cortical, Congenital [MESH:D006958] (392) |
|
|
Keratosis Follicularis Spinulosa Decalvans, X-Linked [MESH:C536159] (78) |
|
|
Respiratory Distress Syndrome, Newborn [MESH:D012127] (169) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
 |
C17. Skin and Connective Tissue Diseases |
 |
 |
|
C17. Skin and Connective Tissue Diseases |
|
|
Stickler syndrome, type 3 [MESH:C537494] (16) |
|
|
Dermatomyositis [MESH:D003882] (1826) |
|
|
Marfan Syndrome [MESH:D008382] (646) |
|
|
Noonan Syndrome [MESH:D009634] (506) |
|
|
Scleroderma, Localized [MESH:D012594] (1597) |
|
|
Keutel syndrome [MESH:C536167] (102) |
|
|
Keloid [MESH:D007627] (1111) |
|
|
Ehlers-Danlos syndrome type 1 [MESH:C536194] (344) |
|
|
Ehlers-Danlos syndrome type 2 [MESH:C536195] (55) |
|
|
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant [MESH:C562625] (375) |
|
|
Osteogenesis imperfecta, type 2A [MESH:C536042] (375) |
|
|
Osteogenesis imperfecta, type 3 [MESH:C536044] (375) |
|
|
Osteogenesis imperfecta, type 4 [MESH:C536045] (375) |
|
|
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis [MESH:C567770] (35) |
|
|
Lupus Nephritis [MESH:D008181] (602) |
|
|
Arthritis, Rheumatoid [MESH:D001172] (3603) |
|
|
Dermatomyositis [MESH:D003882] (1826) |
|
|
Nephrogenic Fibrosing Dermopathy [MESH:D054989] (452) |
|
|
Scleroderma, Localized [MESH:D012594] (1597) |
|
|
Skin Ulcer [MESH:D012883] (229) |
|
|
Chloracne [MESH:D054506] (1274) |
|
|
Ulnar-mammary syndrome [MESH:C536937] (57) |
|
|
Breast Neoplasms, Male [MESH:D018567] (650) |
|
|
Carcinoma, Ductal, Breast [MESH:D018270] (1112) |
|
|
Dermatitis, Atopic [MESH:D003876] (2052) |
|
|
Drug Eruptions [MESH:D003875] (2697) |
|
|
Dermatitis, Allergic Contact [MESH:D017449] (3241) |
|
|
Dermatitis, Occupational [MESH:D009783] (311) |
|
|
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema [MESH:C563730] (53) |
|
|
|
|
|
Chloracne [MESH:D054506] (1274) |
|
|
|
|
|
Cortisone reductase deficiency [MESH:C536447] (136) |
|
|
Hypotrichosis simplex [MESH:C537160] (92) |
|
|
Dermatopathia pigmentosa reticularis [MESH:C535374] (38) |
|
|
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis [MESH:C567770] (35) |
|
|
Darier Disease [MESH:D007644] (125) |
|
|
Keratosis Follicularis Spinulosa Decalvans, X-Linked [MESH:C536159] (78) |
|
|
Naegeli syndrome [MESH:C538331] (38) |
|
|
Dermatopathia pigmentosa reticularis [MESH:C535374] (38) |
|
|
Griscelli syndrome type 3 [MESH:C537303] (28) |
|
|
Dermatopathia pigmentosa reticularis [MESH:C535374] (38) |
|
|
dowling-degos disease [MESH:C562924] (53) |
|
|
|
|
|
LEOPARD Syndrome [MESH:D044542] (299) |
|
|
Vitiligo [MESH:D014820] (504) |
|
|
|
|
|
Griscelli syndrome type 2 [MESH:C537302] (30) |
|
|
Griscelli syndrome type 3 [MESH:C537303] (28) |
|
|
|
|
|
Cardiofaciocutaneous syndrome [MESH:C535579] (407) |
|
|
Naegeli syndrome [MESH:C538331] (38) |
|
|
Focal Dermal Hypoplasia [MESH:D005489] (22) |
|
|
Ehlers-Danlos syndrome type 1 [MESH:C536194] (344) |
|
|
Ehlers-Danlos syndrome type 2 [MESH:C536195] (55) |
|
|
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant [MESH:C562625] (375) |
|
|
|
|
|
Epidermolysis Bullosa, Junctional, Non-Herlitz Type [MESH:C562639] (150) |
|
|
Epidermolysis bullosa simplex with mottled pigmentation [MESH:C535959] (53) |
|
|
Epidermolysis Bullosa Simplex, Autosomal Recessive [MESH:C563408] (38) |
|
|
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema [MESH:C563730] (53) |
|
|
Keratosis Follicularis Spinulosa Decalvans, X-Linked [MESH:C536159] (78) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
Dermatitis, Atopic [MESH:D003876] (2052) |
|
|
Dermatitis, Allergic Contact [MESH:D017449] (3241) |
|
|
Dermatitis, Occupational [MESH:D009783] (311) |
|
|
Keratosis Follicularis Spinulosa Decalvans, X-Linked [MESH:C536159] (78) |
|
|
dowling-degos disease [MESH:C562924] (53) |
|
|
Darier Disease [MESH:D007644] (125) |
|
|
Dermatitis, Atopic [MESH:D003876] (2052) |
|
|
Leukokeratosis, Hereditary Mucosal [MESH:D053529] (51) |
|
|
|
|
|
Griscelli syndrome type 2 [MESH:C537302] (30) |
|
|
Griscelli syndrome type 3 [MESH:C537303] (28) |
|
|
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis [MESH:C567770] (35) |
|
|
Cardiofaciocutaneous syndrome [MESH:C535579] (407) |
|
|
Naegeli syndrome [MESH:C538331] (38) |
|
|
Focal Dermal Hypoplasia [MESH:D005489] (22) |
|
|
Ehlers-Danlos syndrome type 1 [MESH:C536194] (344) |
|
|
Ehlers-Danlos syndrome type 2 [MESH:C536195] (55) |
|
|
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant [MESH:C562625] (375) |
|
|
|
|
|
Epidermolysis Bullosa, Junctional, Non-Herlitz Type [MESH:C562639] (150) |
|
|
Epidermolysis bullosa simplex with mottled pigmentation [MESH:C535959] (53) |
|
|
Epidermolysis Bullosa Simplex, Autosomal Recessive [MESH:C563408] (38) |
|
|
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema [MESH:C563730] (53) |
|
|
Naegeli syndrome [MESH:C538331] (38) |
|
|
Porphyria Cutanea Tarda [MESH:D017119] (766) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
|
|
|
Candidiasis, Chronic Mucocutaneous [MESH:D002178] (224) |
|
|
|
|
|
|
|
|
Leishmaniasis, Mucocutaneous [MESH:D007897] (606) |
|
|
|
|
|
Lipodystrophy, Familial Partial [MESH:D052496] (589) |
|
|
Lipodystrophy, Congenital Generalized, Type 3 [MESH:C567282] (145) |
|
|
|
|
|
Porphyria Cutanea Tarda [MESH:D017119] (766) |
|
|
dowling-degos disease [MESH:C562924] (53) |
|
|
Arthritis, Psoriatic [MESH:D015535] (1859) |
|
|
Behcet Syndrome [MESH:D001528] (1784) |
|
|
Aortic Aneurysm, Familial Thoracic 6 [MESH:C567085] (221) |
|
|
|
|
|
Acquired angioedema [MESH:C538173] (157) |
|
|
Hereditary Angioedema Types I and II [MESH:D056829] (111) |
|
|
|
|
|
|
|
|
Epidermolysis Bullosa, Junctional, Non-Herlitz Type [MESH:C562639] (150) |
|
|
Epidermolysis bullosa simplex with mottled pigmentation [MESH:C535959] (53) |
|
|
Epidermolysis Bullosa Simplex, Autosomal Recessive [MESH:C563408] (38) |
|
|
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema [MESH:C563730] (53) |
|
|
Dermatopathia pigmentosa reticularis [MESH:C535374] (38) |
|
|
|
|
|
Naegeli syndrome [MESH:C538331] (38) |
|
 |
C18. Nutritional and Metabolic Diseases |
 |
 |
|
C18. Nutritional and Metabolic Diseases |
|
|
Not Fully Specified [NFS] (817) |
|
|
Metabolic Syndrome X [MESH:D024821] (2151) |
|
|
|
|
|
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of [MESH:C567006] (27) |
|
|
Acidosis, Lactic [MESH:D000140] (204) |
|
|
Hepatic Encephalopathy [MESH:D006501] (1795) |
|
|
Wernicke Encephalopathy [MESH:D014899] (75) |
|
|
Ethylmalonic encephalopathy [MESH:C535737] (27) |
|
|
Hepatolenticular Degeneration [MESH:D006527] (473) |
|
|
Hyperglycinemia, Nonketotic [MESH:D020158] (67) |
|
|
Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149) |
|
|
Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333) |
|
|
|
|
|
Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129) |
|
|
Leigh Syndrome, X-Linked [MESH:C564114] (33) |
|
|
|
|
|
Neuraminidase 1 deficiency [MESH:C537366] (31) |
|
|
Sea-Blue Histiocyte Syndrome [MESH:D012618] (165) |
|
|
Niemann-Pick Disease, Type A [MESH:D052536] (44) |
|
|
Niemann-Pick Disease, Type B [MESH:D052537] (44) |
|
|
Peroxisome biogenesis disorders [MESH:C536664] (101) |
|
|
Zellweger Syndrome [MESH:D015211] (182) |
|
|
Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129) |
|
|
Neuropathy, hereditary motor and sensory, LOM type [MESH:C535716] (131) |
|
|
3-methylcrotonyl CoA carboxylase 2 deficiency [MESH:C535309] (32) |
|
|
Hypercalcemia [MESH:D006934] (1999) |
|
|
Keutel syndrome [MESH:C536167] (102) |
|
|
Aortic Valve, Calcification of [MESH:C562942] (655) |
|
|
Vascular Calcification [MESH:D061205] (138) |
|
|
Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258) |
|
|
Fanconi Anemia [MESH:D005199] (1604) |
|
|
Li-Fraumeni Syndrome [MESH:D016864] (859) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
|
|
|
Diabetes Mellitus, Experimental [MESH:D003921] (4771) |
|
|
Diabetes Mellitus, Type 1 [MESH:D003922] (1897) |
|
|
Diabetes Mellitus, Type 2 [MESH:D003924] (4219) |
|
|
Diabetes, Gestational [MESH:D016640] (1152) |
|
|
Glucose Intolerance [MESH:D018149] (605) |
|
|
Hyperinsulinemic hypoglycemia, familial, 6 [MESH:C538375] (64) |
|
|
Metabolic Syndrome X [MESH:D024821] (2151) |
|
|
Hyperinsulinemic hypoglycemia, familial, 6 [MESH:C538375] (64) |
|
|
Carnitine Palmitoyltransferase II Deficiency, Infantile [MESH:C563462] (52) |
|
|
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency [MESH:C567784] (102) |
|
|
|
|
|
Hemochromatosis [MESH:D006432] (1694) |
|
|
|
|
|
|
|
|
Hypercholesterolemia [MESH:D006937] (1404) |
|
|
Hyperlipoproteinemia Type II [MESH:D006938] (707) |
|
|
Hyperlipoproteinemia Type III [MESH:D006952] (181) |
|
|
Hypoalphalipoproteinemias [MESH:D052456] (323) |
|
|
Chylomicron retention disease [MESH:C535460] (23) |
|
|
Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency [MESH:C536080] (41) |
|
|
Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129) |
|
|
Carnitine Palmitoyltransferase II Deficiency, Late-Onset [MESH:C563461] (52) |
|
|
Carnitine Palmitoyltransferase II Deficiency, Infantile [MESH:C563462] (52) |
|
|
Neutral Lipid Storage Disease with Myopathy [MESH:C565192] (58) |
|
|
Lipodystrophy, Familial Partial [MESH:D052496] (589) |
|
|
Lipodystrophy, Congenital Generalized, Type 3 [MESH:C567282] (145) |
|
|
|
|
|
Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946) |
|
|
Ceroid Lipofuscinosis, Neuronal, 10 [MESH:C566438] (159) |
|
|
Ceroid lipofuscinosis, neuronal 5 [MESH:C575534] (11) |
|
|
Sea-Blue Histiocyte Syndrome [MESH:D012618] (165) |
|
|
Niemann-Pick Disease, Type A [MESH:D052536] (44) |
|
|
Niemann-Pick Disease, Type B [MESH:D052537] (44) |
|
|
Xanthomatosis, Cerebrotendinous [MESH:D019294] (90) |
|
|
Chylomicron retention disease [MESH:C535460] (23) |
|
|
Celiac Disease [MESH:D002446] (340) |
|
|
Hyperhomocysteinemia [MESH:D020138] (1716) |
|
|
3-Methylglutaconic Aciduria, Type I [MESH:C562801] (29) |
|
|
Coumarin Resistance [MESH:C563039] (397) |
|
|
Hypoproteinemia, Hypercatabolic [MESH:C565476] (99) |
|
|
Phosphoglycerate Kinase 1 Deficiency [MESH:C567067] (98) |
|
|
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency [MESH:C567784] (102) |
|
|
Alpha-ketoglutarate dehydrogenase deficiency [MESH:C536582] (59) |
|
|
Glutamine deficiency, congenital [MESH:C536832] (117) |
|
|
Acidemia, isovaleric [MESH:C538167] (47) |
|
|
Methylmalonic Aciduria and Homocystinuria, CblF Type [MESH:C564747] (21) |
|
|
Methylmalonyl-CoA Epimerase Deficiency [MESH:C565386] (19) |
|
|
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of [MESH:C567006] (27) |
|
|
Hyperglycinemia, Nonketotic [MESH:D020158] (67) |
|
|
Hyperhomocysteinemia [MESH:D020138] (1724) |
|
|
Propionic Acidemia [MESH:D056693] (60) |
|
|
|
|
|
Griscelli syndrome type 2 [MESH:C537302] (30) |
|
|
Griscelli syndrome type 3 [MESH:C537303] (28) |
|
|
3-methylcrotonyl CoA carboxylase 2 deficiency [MESH:C535309] (32) |
|
|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type [MESH:C537944] (333) |
|
|
Amyloidosis, familial visceral [MESH:C538249] (285) |
|
|
Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333) |
|
|
Ethylmalonic encephalopathy [MESH:C535737] (27) |
|
|
Hepatolenticular Degeneration [MESH:D006527] (473) |
|
|
Hyperglycinemia, Nonketotic [MESH:D020158] (67) |
|
|
Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149) |
|
|
Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333) |
|
|
|
|
|
Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129) |
|
|
Leigh Syndrome, X-Linked [MESH:C564114] (33) |
|
|
|
|
|
Neuraminidase 1 deficiency [MESH:C537366] (31) |
|
|
Sea-Blue Histiocyte Syndrome [MESH:D012618] (165) |
|
|
Niemann-Pick Disease, Type A [MESH:D052536] (44) |
|
|
Niemann-Pick Disease, Type B [MESH:D052537] (44) |
|
|
Peroxisome biogenesis disorders [MESH:C536664] (101) |
|
|
Zellweger Syndrome [MESH:D015211] (182) |
|
|
Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129) |
|
|
Neuropathy, hereditary motor and sensory, LOM type [MESH:C535716] (131) |
|
|
3-methylcrotonyl CoA carboxylase 2 deficiency [MESH:C535309] (32) |
|
|
Glucosephosphate Dehydrogenase Deficiency [MESH:D005955] (195) |
|
|
Congenital Disorder Of Glycosylation, Type IIF [MESH:C567040] (16) |
|
|
Primary hyperoxaluria type 2 [MESH:C536415] (25) |
|
|
Neuraminidase 1 deficiency [MESH:C537366] (31) |
|
|
Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149) |
|
|
Leigh Syndrome, X-Linked [MESH:C564114] (33) |
|
|
Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency [MESH:C536080] (41) |
|
|
Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129) |
|
|
Carnitine Palmitoyltransferase II Deficiency, Late-Onset [MESH:C563461] (52) |
|
|
Carnitine Palmitoyltransferase II Deficiency, Infantile [MESH:C563462] (52) |
|
|
Neutral Lipid Storage Disease with Myopathy [MESH:C565192] (58) |
|
|
Hyperlipoproteinemia Type II [MESH:D006938] (707) |
|
|
Hyperlipoproteinemia Type III [MESH:D006952] (181) |
|
|
Xanthomatosis, Cerebrotendinous [MESH:D019294] (90) |
|
|
Hypoalphalipoproteinemias [MESH:D052456] (323) |
|
|
Chylomicron retention disease [MESH:C535460] (23) |
|
|
|
|
|
Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946) |
|
|
Ceroid Lipofuscinosis, Neuronal, 10 [MESH:C566438] (159) |
|
|
Ceroid lipofuscinosis, neuronal 5 [MESH:C575534] (11) |
|
|
Sea-Blue Histiocyte Syndrome [MESH:D012618] (165) |
|
|
Niemann-Pick Disease, Type A [MESH:D052536] (44) |
|
|
Niemann-Pick Disease, Type B [MESH:D052537] (44) |
|
|
Lipodystrophy, Congenital Generalized, Type 3 [MESH:C567282] (145) |
|
|
|
|
|
|
|
|
Neuraminidase 1 deficiency [MESH:C537366] (31) |
|
|
Sea-Blue Histiocyte Syndrome [MESH:D012618] (165) |
|
|
Niemann-Pick Disease, Type A [MESH:D052536] (44) |
|
|
Niemann-Pick Disease, Type B [MESH:D052537] (44) |
|
|
Congenital atransferrinemia [MESH:C538259] (145) |
|
|
Hemochromatosis [MESH:D006432] (1694) |
|
|
Hepatolenticular Degeneration [MESH:D006527] (473) |
|
|
Hypophosphatasia, Childhood [MESH:C562440] (137) |
|
|
Hypophosphatasia, Infantile [MESH:C562646] (137) |
|
|
Hypophosphatasia, Adult [MESH:C562647] (137) |
|
|
Peroxisome biogenesis disorders [MESH:C536664] (101) |
|
|
Acatalasia [MESH:D020642] (788) |
|
|
Zellweger Syndrome [MESH:D015211] (182) |
|
|
Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129) |
|
|
Neuropathy, hereditary motor and sensory, LOM type [MESH:C535716] (131) |
|
|
|
|
|
Porphyria Cutanea Tarda [MESH:D017119] (766) |
|
|
Cortisone reductase deficiency [MESH:C536447] (136) |
|
|
Lathosterolosis [MESH:C537880] (66) |
|
|
Adrenal Hyperplasia, Congenital [MESH:D000312] (674) |
|
|
Carnitine Palmitoyltransferase II Deficiency, Late-Onset [MESH:C563461] (52) |
|
|
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal [MESH:C563463] (52) |
|
|
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 [MESH:C563575] (77) |
|
|
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of [MESH:C567006] (27) |
|
|
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency [MESH:C567784] (102) |
|
|
Optic Atrophy, Hereditary, Leber [MESH:D029242] (1100) |
|
|
Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149) |
|
|
Leigh Syndrome, X-Linked [MESH:C564114] (33) |
|
|
|
|
|
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 [MESH:C563750] (56) |
|
|
Hypophosphatemia [MESH:D017674] (640) |
|
|
|
|
|
Porphyria Cutanea Tarda [MESH:D017119] (766) |
|
|
|
|
|
Meretoja syndrome [MESH:C537459] (95) |
|
|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type [MESH:C537944] (333) |
|
|
Amyloidosis, familial visceral [MESH:C538249] (285) |
|
|
Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333) |
|
|
|
|
|
Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333) |
|
|
|
|
|
Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559) |
|
|
|
|
|
Lipodystrophy, Familial Partial [MESH:D052496] (589) |
|
|
Lipodystrophy, Congenital Generalized, Type 3 [MESH:C567282] (145) |
|
|
|
|
|
Porphyria Cutanea Tarda [MESH:D017119] (766) |
|
|
HIV Wasting Syndrome [MESH:D019247] (1956) |
|
|
Hypercalcemia [MESH:D006934] (1999) |
|
|
Hyponatremia [MESH:D007010] (789) |
|
|
|
|
|
|
|
|
Protein Deficiency [MESH:D011488] (1057) |
|
|
|
|
|
Hyperhomocysteinemia [MESH:D020138] (1716) |
|
|
Wernicke Encephalopathy [MESH:D014899] (75) |
|
|
Ataxia with vitamin E deficiency [MESH:C535393] (271) |
|
|
|
|
|
Obesity, Abdominal [MESH:D056128] (115) |
|
|
HIV Wasting Syndrome [MESH:D019247] (1956) |
|
 |
C19. Endocrine System Diseases |
 |
 |
|
C19. Endocrine System Diseases |
|
|
Not Fully Specified [NFS] (123) |
|
|
Endocrine-Cerebroosteodysplasia [MESH:C567210] (26) |
|
|
Adrenal Gland Neoplasms [MESH:D000310] (917) |
|
|
Adrenal Hyperplasia, Congenital [MESH:D000312] (674) |
|
|
|
|
|
Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129) |
|
|
Diabetes, Gestational [MESH:D016640] (1152) |
|
|
Diabetes Mellitus, Experimental [MESH:D003921] (4771) |
|
|
Diabetes Mellitus, Type 1 [MESH:D003922] (1897) |
|
|
Diabetes Mellitus, Type 2 [MESH:D003924] (4219) |
|
|
Diabetic Cardiomyopathies [MESH:D058065] (1995) |
|
|
Diabetic Nephropathies [MESH:D003928] (2301) |
|
|
Diabetic Neuropathies [MESH:D003929] (2443) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
Parastremmatic dwarfism [MESH:C537172] (39) |
|
|
Metatropic dwarfism [MESH:C537356] (39) |
|
|
Congenital Hypothyroidism [MESH:D003409] (266) |
|
|
Laron Syndrome [MESH:D046150] (91) |
|
|
Short Stature, Idiopathic, Autosomal [MESH:C565805] (194) |
|
|
Adrenal Gland Neoplasms [MESH:D000310] (917) |
|
|
Ovarian Neoplasms [MESH:D010051] (3275) |
|
|
Thyroid Neoplasms [MESH:D013964] (2040) |
|
|
Pancreatic cancer, adult [MESH:C535836] (572) |
|
|
Carcinoma, Pancreatic Ductal [MESH:D021441] (1056) |
|
|
|
|
|
|
|
|
Cortisone reductase deficiency [MESH:C536447] (136) |
|
|
Mullerian Aplasia and Hyperandrogenism [MESH:C567186] (57) |
|
|
Androgen-Insensitivity Syndrome [MESH:D013734] (567) |
|
|
Denys-Drash Syndrome [MESH:D030321] (57) |
|
|
Frasier Syndrome [MESH:D052159] (57) |
|
|
WAGR Syndrome [MESH:D017624] (270) |
|
|
Meacham Winn Culler syndrome [MESH:C538162] (57) |
|
|
Adrenal Hyperplasia, Congenital [MESH:D000312] (674) |
|
|
Mullerian Aplasia and Hyperandrogenism [MESH:C567186] (57) |
|
|
|
|
|
Meacham Winn Culler syndrome [MESH:C538162] (57) |
|
|
Ovarian Neoplasms [MESH:D010051] (3281) |
|
|
Polycystic Ovary Syndrome [MESH:D011085] (2186) |
|
|
Premature Ovarian Failure 2b [MESH:C564476] (12) |
|
|
|
|
|
Hyperparathyroidism, Secondary [MESH:D006962] (1138) |
|
|
Barakat syndrome [MESH:C537907] (71) |
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
|
|
|
Pituitary ACTH Hypersecretion [MESH:D047748] (599) |
|
|
|
|
|
Short Stature, Idiopathic, Autosomal [MESH:C565805] (194) |
|
|
Thyroid Neoplasms [MESH:D013964] (2040) |
|
|
Thyrotoxicosis [MESH:D013971] (93) |
|
|
|
|
|
Graves Ophthalmopathy [MESH:D049970] (165) |
|
|
Hyperthyroidism, Nonautoimmune [MESH:C563786] (39) |
|
|
Hyperthyroidism, Familial Gestational [MESH:C566384] (39) |
|
|
Thyrotoxicosis [MESH:D013971] (93) |
|
|
Graves Ophthalmopathy [MESH:D049970] (165) |
|
|
Congenital Hypothyroidism [MESH:D003409] (266) |
|
|
Thyroiditis, Autoimmune [MESH:D013967] (149) |
|
 |
C20. Immune System Diseases |
 |
 |
|
C20. Immune System Diseases |
|
|
Not Fully Specified [NFS] (350) |
|
|
Glomerulonephritis, Membranoproliferative [MESH:D015432] (770) |
|
|
Graft vs Host Disease [MESH:D006086] (674) |
|
|
Spondyloenchondrodysplasia [MESH:C535782] (71) |
|
|
Anemia, Hemolytic, Autoimmune [MESH:D000744] (117) |
|
|
Arthritis, Rheumatoid [MESH:D001172] (3601) |
|
|
Autoimmune Lymphoproliferative Syndrome [MESH:D056735] (704) |
|
|
Diabetes Mellitus, Type 1 [MESH:D003922] (1893) |
|
|
Glomerulonephritis, IGA [MESH:D005922] (897) |
|
|
Glomerulonephritis, Membranous [MESH:D015433] (642) |
|
|
Hepatitis, Autoimmune [MESH:D019693] (1982) |
|
|
Thyroiditis, Autoimmune [MESH:D013967] (79) |
|
|
Myasthenia Gravis [MESH:D009157] (632) |
|
|
|
|
|
Multiple Sclerosis, Relapsing-Remitting [MESH:D020529] (170) |
|
|
Encephalomyelitis, Autoimmune, Experimental [MESH:D004681] (806) |
|
|
|
|
|
Neuropathy, Hereditary Sensory And Autonomic, Type IIB [MESH:C567738] (28) |
|
|
Graves Ophthalmopathy [MESH:D049970] (165) |
|
|
Lupus Nephritis [MESH:D008181] (602) |
|
|
|
|
|
Drug Eruptions [MESH:D003875] (2695) |
|
|
Asthma, Nasal Polyps, And Aspirin Intolerance [MESH:C565935] (80) |
|
|
Dermatitis, Allergic Contact [MESH:D017449] (3241) |
|
|
Dermatitis, Atopic [MESH:D003876] (2052) |
|
|
Asthma, Nasal Polyps, And Aspirin Intolerance [MESH:C565935] (80) |
|
|
Peanut Hypersensitivity [MESH:D021183] (572) |
|
|
Ige Responsiveness, Atopic [MESH:C564133] (267) |
|
|
Asthma [MESH:D001249] (3914) |
|
|
|
|
|
Acquired angioedema [MESH:C538173] (157) |
|
|
Hereditary Angioedema Types I and II [MESH:D056829] (111) |
|
|
Griscelli syndrome type 2 [MESH:C537302] (30) |
|
|
Immunodeficiency due to Defect in MAPBP-Interacting Protein [MESH:C563663] (19) |
|
|
Complement Component 4, Partial Deficiency Of [MESH:C565168] (55) |
|
|
Complement Component 7 Deficiency [MESH:C566443] (37) |
|
|
Acquired Immunodeficiency Syndrome [MESH:D000163] (743) |
|
|
HIV Wasting Syndrome [MESH:D019247] (1956) |
|
|
Granulomatous Disease, Chronic [MESH:D006105] (404) |
|
|
Job Syndrome [MESH:D007589] (772) |
|
|
Hypergammaglobulinemia [MESH:D006942] (137) |
|
|
Autoimmune Lymphoproliferative Syndrome [MESH:D056735] (704) |
|
|
Multiple Myeloma [MESH:D009101] (2767) |
|
|
|
|
|
Leukemia, Lymphocytic, Chronic, B-Cell [MESH:D015451] (2562) |
|
|
Leukemia-Lymphoma, Adult T-Cell [MESH:D015459] (138) |
|
|
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054218] (510) |
|
|
Hodgkin Disease [MESH:D006689] (1082) |
|
|
Burkitt Lymphoma [MESH:D002051] (691) |
|
|
Lymphoma, Mantle-Cell [MESH:D020522] (561) |
|
|
Burkitt Lymphoma [MESH:D002051] (691) |
|
|
Lymphoma, Large B-Cell, Diffuse [MESH:D016403] (2012) |
|
|
Lymphoma, Large-Cell, Anaplastic [MESH:D017728] (420) |
|
|
Lymphoma, T-Cell, Cutaneous [MESH:D016410] (912) |
|
|
Multiple Myeloma [MESH:D009101] (2765) |
|
 |
C22. Animal Diseases |
 |
 |
|
C22. Animal Diseases |
|
|
Disease Models, Animal [MESH:D004195] (2058) |
|
|
Mammary Neoplasms, Animal [MESH:D015674] (2735) |
|
|
Paratuberculosis [MESH:D010283] (427) |
|
|
Salmonella Infections, Animal [MESH:D012481] (604) |
|
 |
C23. Pathological Conditions, Signs and Symptoms |
 |
 |
|
C23. Pathological Conditions, Signs and Symptoms |
|
|
Plaque, Amyloid [MESH:D058225] (334) |
|
|
Plaque, Atherosclerotic [MESH:D058226] (696) |
|
|
Chudley-Mccullough syndrome [MESH:C535459] (45) |
|
|
Opitz-Kaveggia syndrome [MESH:C537923] (64) |
|
|
Dermatopathia pigmentosa reticularis [MESH:C535374] (38) |
|
|
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis [MESH:C567770] (35) |
|
|
Muscular Atrophy [MESH:D009133] (1234) |
|
|
|
|
|
Hernia, Inguinal [MESH:D006552] (111) |
|
|
Congenital diaphragmatic hernia [MESH:C538080] (381) |
|
|
Intervertebral disc disease [MESH:C535531] (514) |
|
|
Hepatomegaly [MESH:D006529] (1169) |
|
|
Splenomegaly [MESH:D013163] (1258) |
|
|
Hypertrophy, Left Ventricular [MESH:D017379] (1430) |
|
|
Anonychia congenita [MESH:C536377] (69) |
|
|
|
|
|
Asthma, Nasal Polyps, And Aspirin Intolerance [MESH:C565935] (80) |
|
|
Emphysema [MESH:D004646] (1096) |
|
|
Gliosis [MESH:D005911] (1419) |
|
|
Hemolysis [MESH:D006461] (280) |
|
|
Hyperammonemia [MESH:D022124] (322) |
|
|
Hyperbilirubinemia [MESH:D006932] (1860) |
|
|
Hyperplasia [MESH:D006965] (2463) |
|
|
Necrosis [MESH:D009336] (4019) |
|
|
Nerve Degeneration [MESH:D009410] (4061) |
|
|
Atrial Fibrillation [MESH:D001281] (1053) |
|
|
Ventricular Fibrillation [MESH:D014693] (624) |
|
|
|
|
|
Torsades de Pointes [MESH:D016171] (880) |
|
|
Micronuclei, Chromosome-Defective [MESH:D048629] (1013) |
|
|
Embryo Loss [MESH:D020964] (288) |
|
|
Fetal Death [MESH:D005313] (464) |
|
|
Disease Progression [MESH:D018450] (2868) |
|
|
Recurrence [MESH:D012008] (830) |
|
|
Genetic Predisposition to Disease [MESH:D020022] (966) |
|
|
Cardiofaciocutaneous syndrome [MESH:C535579] (407) |
|
|
Nephrogenic Fibrosing Dermopathy [MESH:D054989] (452) |
|
|
Keloid [MESH:D007627] (1110) |
|
|
Microsatellite Instability [MESH:D053842] (141) |
|
|
Fetal Growth Retardation [MESH:D005317] (986) |
|
|
Shock, Hemorrhagic [MESH:D012771] (2042) |
|
|
|
|
|
Brain Small Vessel Disease with Hemorrhage [MESH:C564372] (77) |
|
|
Hematoma, Epidural, Spinal [MESH:D046748] (167) |
|
|
Hematoma, Subdural [MESH:D006408] (215) |
|
|
Hematoma, Subdural [MESH:D006408] (212) |
|
|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type [MESH:C537944] (333) |
|
|
Ethylmalonic encephalopathy [MESH:C535737] (27) |
|
|
Purpura, Thrombotic Thrombocytopenic [MESH:D011697] (222) |
|
|
Neurogenic Inflammation [MESH:D020078] (2246) |
|
|
|
|
|
Bacteremia [MESH:D016470] (1369) |
|
|
Shock, Septic [MESH:D012772] (1830) |
|
|
No-Reflow Phenomenon [MESH:D054318] (277) |
|
|
Neovascularization, Pathologic [MESH:D009389] (829) |
|
|
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of [MESH:C567006] (27) |
|
|
Neoplasm Invasiveness [MESH:D009361] (3388) |
|
|
Neoplasm Recurrence, Local [MESH:D009364] (1949) |
|
|
Cell Transformation, Neoplastic [MESH:D002471] (3389) |
|
|
Lymphatic Metastasis [MESH:D008207] (917) |
|
|
|
|
|
Ossification of the posterior longitudinal ligament of the spine [MESH:C537143] (98) |
|
|
|
|
|
Myocardial Reperfusion Injury [MESH:D015428] (3500) |
|
|
Mesangial sclerosis, diffuse [MESH:C537346] (33) |
|
|
Scleroatonic muscular dystrophy [MESH:C537521] (108) |
|
|
Multiple Organ Failure [MESH:D009102] (1836) |
|
|
Shock, Cardiogenic [MESH:D012770] (269) |
|
|
Shock, Hemorrhagic [MESH:D012771] (2042) |
|
|
Shock, Septic [MESH:D012772] (1830) |
|
|
Chills [MESH:D023341] (644) |
|
|
Cyanosis [MESH:D003490] (288) |
|
|
Edema [MESH:D004487] (3726) |
|
|
Fatigue [MESH:D005221] (437) |
|
|
Flushing [MESH:D005483] (506) |
|
|
Hypergammaglobulinemia [MESH:D006942] (105) |
|
|
Fever [MESH:D005334] (2856) |
|
|
Hypothermia [MESH:D007035] (2075) |
|
|
|
|
|
Weight Gain [MESH:D015430] (2595) |
|
|
|
|
|
Cachexia [MESH:D002100] (2283) |
|
|
Obesity [MESH:D009765] (4454) |
|
|
Cardiofaciocutaneous syndrome [MESH:C535579] (407) |
|
|
Paresis [MESH:D010291] (419) |
|
|
Seizures [MESH:D012640] (4502) |
|
|
Mental Retardation, X-Linked, Syndromic 10 [MESH:C564560] (54) |
|
|
Dystonia [MESH:D004421] (848) |
|
|
Hyperkinesis [MESH:D006948] (1799) |
|
|
Ataxia with vitamin E deficiency [MESH:C535393] (271) |
|
|
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract [MESH:C567203] (27) |
|
|
Dysequilibrium syndrome [MESH:C535731] (83) |
|
|
|
|
|
Learning Disorders [MESH:D007859] (2727) |
|
|
|
|
|
Aphasia [MESH:D001037] (219) |
|
|
Amnesia [MESH:D000647] (1911) |
|
|
Korsakoff Syndrome [MESH:D020915] (69) |
|
|
Dysequilibrium syndrome [MESH:C535731] (83) |
|
|
Coffin-Siris syndrome [MESH:C536436] (102) |
|
|
Parastremmatic dwarfism [MESH:C537172] (39) |
|
|
Brunner Syndrome [MESH:C563156] (124) |
|
|
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy [MESH:C567020] (21) |
|
|
Muscular Atrophy [MESH:D009133] (1234) |
|
|
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps [MESH:C567088] (77) |
|
|
Opitz-Kaveggia syndrome [MESH:C537923] (64) |
|
|
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of [MESH:C567006] (27) |
|
|
Neuralgia [MESH:D009437] (2074) |
|
|
Low Back Pain [MESH:D017116] (244) |
|
|
|
|
|
Familial porencephaly [MESH:C536850] (77) |
|
|
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 [MESH:C563575] (77) |
|
|
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 [MESH:C563750] (56) |
|
|
Pierson syndrome [MESH:C537185] (33) |
|
|
Taste Disorders [MESH:D013651] (461) |
|
|
Vision Disorders [MESH:D014786] (444) |
|
|
|
|
|
|
|
|
Chudley-Mccullough syndrome [MESH:C535459] (45) |
|
|
Corneal dystrophy and perceptive deafness [MESH:C535473] (17) |
|
|
Barakat syndrome [MESH:C537907] (71) |
|
|
Deafness, Autosomal Recessive 53 [MESH:C566453] (16) |
|
|
Deafness, Autosomal Recessive 42 [MESH:C566460] (11) |
|
|
Deafness, Autosomal Dominant 13 [MESH:C566612] (16) |
|
|
Deafness, Autosomal Recessive 1A [MESH:C567134] (88) |
|
|
Deafness, Autosomal Recessive 1b [MESH:C567213] (18) |
|
|
Deafness, Autosomal Dominant 3B [MESH:C567215] (18) |
|
|
Deafness, Autosomal Dominant 3A [MESH:C567277] (77) |
|
|
Hyperalgesia [MESH:D006930] (3929) |
|
|
Neuralgia [MESH:D009437] (2074) |
|
|
Low Back Pain [MESH:D017116] (244) |
|
|
|
|
|
Acute Coronary Syndrome [MESH:D054058] (2286) |
|
|
Angina, Stable [MESH:D060050] (1702) |
|
|
Anorexia [MESH:D000855] (854) |
|
|
Nausea [MESH:D009325] (2300) |
|
|
Vomiting [MESH:D014839] (1354) |
|
|
Opitz-Kaveggia syndrome [MESH:C537923] (64) |
|
|
Anoxia [MESH:D000860] (1698) |
|
|
Hyperoxia [MESH:D018496] (694) |
|
|
Hyperventilation [MESH:D006985] (652) |
|
|
Respiratory Sounds [MESH:D012135] (713) |
|
|
|
|
|
Aortic Aneurysm, Familial Thoracic 6 [MESH:C567085] (221) |
|
|
Ethylmalonic encephalopathy [MESH:C535737] (27) |
|
|
Purpura, Thrombotic Thrombocytopenic [MESH:D011697] (222) |
|
|
Polyuria [MESH:D011141] (279) |
|
|
Albuminuria [MESH:D000419] (2394) |
|
|
CD59 Deficiency [MESH:C567355] (57) |
|
|
|
|
|
Cortisone reductase deficiency [MESH:C536447] (136) |
|
 |
C24. Occupational Diseases |
 |
 |
|
C24. Occupational Diseases |
|
|
Not Fully Specified [NFS] (1530) |
|
|
Dermatitis, Occupational [MESH:D009783] (311) |
|
|
Berylliosis [MESH:D001607] (2005) |
|
|
Silicosis [MESH:D012829] (1273) |
|
 |
C25. Chemically-Induced Disorders |
 |
 |
|
C25. Chemically-Induced Disorders |
|
|
Drug-Induced Liver Injury [MESH:D056486] (4936) |
|
|
Dyskinesia, Drug-Induced [MESH:D004409] (1389) |
|
|
Drug Eruptions [MESH:D003875] (2697) |
|
|
Asthma, Nasal Polyps, And Aspirin Intolerance [MESH:C565935] (80) |
|
|
Arsenic Poisoning [MESH:D020261] (2540) |
|
|
Cadmium Poisoning [MESH:D002105] (180) |
|
|
Drug-Induced Liver Injury [MESH:D056486] (4936) |
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Manganese Poisoning [MESH:D020149] (2214) |
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Mercury Poisoning [MESH:D008630] (193) |
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Organophosphate Poisoning [MESH:D062025] (497) |
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Psychoses, Substance-Induced [MESH:D011605] (2053) |
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Favism [MESH:D005236] (193) |
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Dyskinesia, Drug-Induced [MESH:D004409] (1389) |
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Korsakoff Syndrome [MESH:D020915] (69) |
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Favism [MESH:D005236] (193) |
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Amphetamine-Related Disorders [MESH:D019969] (2858) |
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Cocaine-Related Disorders [MESH:D019970] (3054) |
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Marijuana Abuse [MESH:D002189] (1132) |
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Opioid-Related Disorders [MESH:D009293] (1491) |
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Phencyclidine Abuse [MESH:D010623] (288) |
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Psychoses, Substance-Induced [MESH:D011605] (2052) |
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Substance Withdrawal Syndrome [MESH:D013375] (2956) |
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Tobacco Use Disorder [MESH:D014029] (628) |
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Alcoholism [MESH:D000437] (1519) |
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Wernicke Encephalopathy [MESH:D014899] (75) |
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Korsakoff Syndrome [MESH:D020915] (69) |
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Hepatitis, Alcoholic [MESH:D006519] (1613) |
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Liver Cirrhosis, Alcoholic [MESH:D008104] (3066) |
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C26. Wounds and Injuries |
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C26. Wounds and Injuries |
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Not Fully Specified [NFS] (2454) |
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Burns [MESH:D002056] (2565) |
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Fractures, Bone [MESH:D050723] (597) |
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Heat Stress Disorders [MESH:D018882] (226) |
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Vascular System Injuries [MESH:D057772] (2086) |
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Brain Injuries [MESH:D001930] (3431) |
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Hematoma, Subdural [MESH:D006408] (212) |
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Radiation Injuries, Experimental [MESH:D011833] (2662) |
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Spinal Cord Compression [MESH:D013117] (1800) |
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Heart Injuries [MESH:D006335] (82) |
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Brain Injuries [MESH:D001930] (3431) |
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Hematoma, Subdural [MESH:D006408] (212) |
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D02. Organic Chemicals |
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D02. Organic Chemicals |
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Diuron [MESH:D004237] (1) |
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Diuron [MESH:D004237] (1) |
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E. Analytical, Diagnostic and Therapeutic Techniques and Equipment |
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E. Analytical, Diagnostic and Therapeutic Techniques and Equipment |
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Carotid Intimal Medial Thickness 1 [MESH:C563733] (457) |
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Carotid Intimal Medial Thickness 1 [MESH:C563733] (457) |
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Cardiofaciocutaneous syndrome [MESH:C535579] (407) |
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F. Psychiatry and Psychology |
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F. Psychiatry and Psychology |
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Brunner Syndrome [MESH:C563156] (124) |
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Brunner Syndrome [MESH:C563156] (124) |
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Dysequilibrium syndrome [MESH:C535731] (83) |
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Coffin-Siris syndrome [MESH:C536436] (102) |
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Parastremmatic dwarfism [MESH:C537172] (39) |
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Brunner Syndrome [MESH:C563156] (124) |
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Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy [MESH:C567020] (21) |
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Alzheimer disease type 2 [MESH:C536595] (165) |
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Brunner Syndrome [MESH:C563156] (124) |
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Dysequilibrium syndrome [MESH:C535731] (83) |
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Coffin-Siris syndrome [MESH:C536436] (102) |
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Parastremmatic dwarfism [MESH:C537172] (39) |
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Brunner Syndrome [MESH:C563156] (124) |
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Major Affective Disorder 1 [MESH:C565111] (237) |
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Major Affective Disorder 7 [MESH:C567529] (136) |
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Cortisone reductase deficiency [MESH:C536447] (136) |
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G. Phenomena and Processes |
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G. Phenomena and Processes |
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Spinocerebellar Ataxia 10 [MESH:C566874] (24) |
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Spinocerebellar Ataxia 10 [MESH:C566874] (24) |
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Spinocerebellar Ataxia 10 [MESH:C566874] (24) |
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Spinocerebellar Ataxia 10 [MESH:C566874] (24) |
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Spinocerebellar Ataxia 10 [MESH:C566874] (24) |
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Spinocerebellar Ataxia 10 [MESH:C566874] (24) |
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Carotid Intimal Medial Thickness 1 [MESH:C563733] (457) |
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