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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toll-like receptor 2 [HGNC:TLR2] (55) |
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gonadotropin-releasing hormone receptor [HGNC:GNRHR] (15) |
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nexilin (F actin binding protein) [HGNC:NEXN] (14) |
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interleukin 04 [HGNC:IL4] (164) |
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suppressor of cytokine signaling 3 [HGNC:SOCS3] (46) |
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suppressor of cytokine signaling 3 [HGNC:SOCS3] (46) |
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2. Interaction: Human Genes and Chemicals |
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2. Interaction: Human Genes and Chemicals |
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expression (494) |
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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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Synpolydactyly 2 [MESH:C564278] (43) |
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Meier-Gorlin syndrome [MESH:C538012] (133) |
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Cutis Gyrata Syndrome of Beare And Stevenson [MESH:C565129] (85) |
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Oculodigitoesophagoduodenal syndrome [MESH:C537734] (58) |
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Carnevale syndrome [MESH:C535586] (45) |
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Rapadilino syndrome [MESH:C535288] (30) |
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Meier-Gorlin syndrome [MESH:C538012] (133) |
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Rapadilino syndrome [MESH:C535288] (30) |
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Craniosynostosis radial aplasia syndrome [MESH:C536788] (30) |
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Rapadilino syndrome [MESH:C535288] (30) |
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Rapadilino syndrome [MESH:C535288] (30) |
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Aplasia of Lacrimal and Salivary Glands [MESH:C562407] (42) |
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Thyroid Dyshormonogenesis 3 [MESH:C562769] (46) |
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Brain Small Vessel Disease with Hemorrhage [MESH:C564372] (77) |
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Brain Small Vessel Disease with Hemorrhage [MESH:C564372] (77) |
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Short QT Syndrome 2 [MESH:C566505] (45) |
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Orofacial Cleft 1 [MESH:C566121] (81) |
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Polymicrogyria With Optic Nerve Hypoplasia [MESH:C567715] (29) |
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Meier-Gorlin syndrome [MESH:C538012] (133) |
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Cutis Gyrata Syndrome of Beare And Stevenson [MESH:C565129] (85) |
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Oculodigitoesophagoduodenal syndrome [MESH:C537734] (58) |
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Aplasia of Lacrimal and Salivary Glands [MESH:C562407] (42) |
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Basal Laminar Drusen [MESH:C563034] (52) |
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Basal Laminar Drusen [MESH:C563034] (52) |
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Aplasia of Lacrimal and Salivary Glands [MESH:C562407] (42) |
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Aplasia of Lacrimal and Salivary Glands [MESH:C562407] (42) |
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Schopf-Schulz-Passarge Syndrome [MESH:C565607] (21) |
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Basal Laminar Drusen [MESH:C563034] (52) |
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Microvillus inclusion disease [MESH:C537470] (28) |
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Chromosome 3, monosomy 3p25 [MESH:C536807] (76) |
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5q- syndrome [MESH:C535323] (131) |
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Aplasia of Lacrimal and Salivary Glands [MESH:C562407] (42) |
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Schopf-Schulz-Passarge Syndrome [MESH:C565607] (21) |
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C01. Bacterial Infections and Mycoses |
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C01. Bacterial Infections and Mycoses |
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Helicobacter Infections [MESH:D016481] (579) |
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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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Mycoplasma Infections [MESH:D009175] (1947) |
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Meningococcal Infections [MESH:D008589] (242) |
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Listeriosis [MESH:D008088] (1622) |
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Staphylococcal Infections [MESH:D013203] (264) |
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Leprosy [MESH:D007918] (261) |
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Mycobacterium Infections, Nontuberculous [MESH:D009165] (480) |
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Paratuberculosis [MESH:D010283] (427) |
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Tuberculosis, Bovine [MESH:D014380] (380) |
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Chlamydia Infections [MESH:D002690] (1693) |
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Arthritis, Infectious [MESH:D001170] (1702) |
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Respiratory Tract Infections [MESH:D012141] (199) |
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Appendicitis [MESH:D001064] (774) |
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Peritonitis [MESH:D010538] (800) |
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Shock, Septic [MESH:D012772] (1830) |
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Endotoxemia [MESH:D019446] (1289) |
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Chlamydia Infections [MESH:D002690] (1693) |
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Candidiasis familial chronic mucocutaneous, autosomal recessive [MESH:C537979] (36) |
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Endotoxemia [MESH:D019446] (1289) |
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Candidiasis familial chronic mucocutaneous, autosomal recessive [MESH:C537979] (36) |
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Candidiasis familial chronic mucocutaneous, autosomal recessive [MESH:C537979] (36) |
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C02. Virus Diseases |
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C02. Virus Diseases |
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West Nile Fever [MESH:D014901] (73) |
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Encephalitis, Herpes Simplex [MESH:D020803] (72) |
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West Nile Fever [MESH:D014901] (73) |
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Meningitis, Aseptic [MESH:D008582] (1305) |
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Hepatitis B [MESH:D006509] (976) |
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Encephalitis, Herpes Simplex [MESH:D020803] (72) |
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Sarcoma, Kaposi [MESH:D012514] (1578) |
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Burkitt Lymphoma [MESH:D002051] (691) |
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Encephalitis, Herpes Simplex [MESH:D020803] (72) |
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West Nile Fever [MESH:D014901] (73) |
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Hepatitis B [MESH:D006509] (976) |
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Hepatitis C [MESH:D006526] (1627) |
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Meningitis, Aseptic [MESH:D008582] (1305) |
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Arenaviridae Infections [MESH:D001117] (204) |
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West Nile Fever [MESH:D014901] (73) |
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Hepatitis C [MESH:D006526] (1627) |
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West Nile Fever [MESH:D014901] (73) |
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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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Coxsackievirus Infections [MESH:D003384] (194) |
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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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Trichuriasis [MESH:D014257] (805) |
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Malaria [MESH:D008288] (2175) |
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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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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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Megalencephalic leukoencephalopathy with subcortical cysts [MESH:C536141] (28) |
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Chudley-Mccullough syndrome [MESH:C535459] (45) |
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Polycystic Ovary Syndrome [MESH:D011085] (2186) |
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Renal hepatic pancreatic dysplasia Dandy Walker cyst [MESH:C537756] (11) |
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Hamartoma Syndrome, Multiple [MESH:D006223] (262) |
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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 B-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D015452] (354) |
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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, Juvenile [MESH:D054429] (344) |
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Leukemia, Erythroblastic, Acute [MESH:D004915] (89) |
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Leukemia, Megakaryoblastic, Acute [MESH:D007947] (279) |
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Leukemia, Monocytic, Acute [MESH:D007948] (98) |
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Leukemia, Promyelocytic, Acute [MESH:D015473] (1367) |
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Lymphangioleiomyomatosis [MESH:D018192] (162) |
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Hodgkin Disease [MESH:D006689] (1082) |
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Burkitt Lymphoma [MESH:D002051] (691) |
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Lymphoma, Follicular [MESH:D008224] (1025) |
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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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Hepatoblastoma [MESH:D018197] (548) |
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Wilms Tumor [MESH:D009396] (553) |
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Liposarcoma [MESH:D008080] (612) |
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Chondrosarcoma, Mesenchymal [MESH:D018211] (1161) |
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Mastocytosis, Cutaneous [MESH:D034701] (45) |
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Sarcoma, Ewing [MESH:D012512] (79) |
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Solitary Fibrous Tumors [MESH:D054364] (79) |
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Fibromatosis, Aggressive [MESH:D018222] (1562) |
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Leiomyoma [MESH:D007889] (744) |
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Leiomyosarcoma [MESH:D007890] (977) |
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Rhabdomyosarcoma, Embryonal [MESH:D018233] (98) |
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Lymphangioleiomyomatosis [MESH:D018192] (162) |
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Hemangiosarcoma [MESH:D006394] (1836) |
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Leiomyosarcoma [MESH:D007890] (977) |
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Liposarcoma [MESH:D008080] (612) |
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Sarcoma, Kaposi [MESH:D012514] (1578) |
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Chondrosarcoma, Mesenchymal [MESH:D018211] (1161) |
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Rhabdomyosarcoma, Embryonal [MESH:D018233] (98) |
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Sarcoma, Ewing [MESH:D012512] (79) |
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Testicular Germ Cell Tumor [MESH:C563236] (176) |
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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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Schwannomatosis [MESH:C536641] (29) |
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Neurofibromatosis 2 [MESH:D016518] (29) |
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Hepatic Adenomas, Familial [MESH:C564190] (49) |
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Mesothelioma [MESH:D008654] (2567) |
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Polyposis Syndrome, Hereditary Mixed, 2 [MESH:C566451] (26) |
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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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Adrenocortical Carcinoma [MESH:D018268] (821) |
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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, Lobular [MESH:D018275] (305) |
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Carcinoma, Renal Cell [MESH:D002292] (2975) |
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Cholangiocarcinoma [MESH:D018281] (2398) |
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Carcinoma, Pancreatic Ductal [MESH:D021441] (1056) |
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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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Bowen's Disease [MESH:D001913] (247) |
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Carcinoma, Basal Cell [MESH:D002280] (1628) |
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Carcinoma, Intraductal, Noninfiltrating [MESH:D002285] (500) |
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Carcinoma, Lobular [MESH:D018275] (305) |
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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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Bowen's Disease [MESH:D001913] (247) |
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Meningioma, familial [MESH:C537443] (195) |
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Schwannomatosis [MESH:C536641] (29) |
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Neurofibromatosis 2 [MESH:D016518] (29) |
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Schwannomatosis [MESH:C536641] (29) |
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Neurofibromatosis 2 [MESH:D016518] (29) |
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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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Schwannomatosis [MESH:C536641] (29) |
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Multiple Myeloma [MESH:D009101] (2767) |
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Hemangiosarcoma [MESH:D006394] (1836) |
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Sarcoma, Kaposi [MESH:D012514] (1578) |
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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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Breast Neoplasms, Male [MESH:D018567] (650) |
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Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143) |
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Inflammatory Breast Neoplasms [MESH:D058922] (43) |
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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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Rectal Neoplasms [MESH:D012004] (717) |
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Polyposis Syndrome, Hereditary Mixed, 2 [MESH:C566451] (26) |
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Polyposis Syndrome, Hereditary Mixed, 2 [MESH:C566451] (26) |
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Hepatic Adenomas, Familial [MESH:C564190] (49) |
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Carcinoma, Hepatocellular [MESH:D006528] (5375) |
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Liver Neoplasms, Experimental [MESH:D008114] (2837) |
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Carcinoma, Pancreatic Ductal [MESH:D021441] (1056) |
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Thyroid Neoplasms [MESH:D013964] (2040) |
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Adrenocortical Carcinoma [MESH:D018268] (821) |
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Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143) |
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Carcinoma, Pancreatic Ductal [MESH:D021441] (1056) |
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Testicular Germ Cell Tumor [MESH:C563236] (176) |
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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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Schopf-Schulz-Passarge Syndrome [MESH:C565607] (21) |
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Salivary Gland Neoplasms [MESH:D012468] (968) |
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Tongue Neoplasms [MESH:D014062] (1518) |
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Nasopharyngeal Neoplasms [MESH:D009303] (1500) |
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Mammary Neoplasms, Experimental [MESH:D008325] (3268) |
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Brain Neoplasms [MESH:D001932] (2764) |
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Chudley-Mccullough syndrome [MESH:C535459] (45) |
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Meningioma, familial [MESH:C537443] (195) |
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Schwannomatosis [MESH:C536641] (29) |
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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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Vaginal Neoplasms [MESH:D014625] (363) |
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Endometrial Neoplasms [MESH:D016889] (1987) |
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Uterine Cervical Neoplasms [MESH:D002583] (978) |
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Prostate cancer, familial [MESH:C537243] (264) |
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|
Testicular Germ Cell Tumor [MESH:C563236] (176) |
|
|
Urinary Bladder Neoplasms [MESH:D001749] (4079) |
|
|
Carcinoma, Renal Cell [MESH:D002292] (2975) |
|
|
Wilms Tumor [MESH:D009396] (553) |
|
|
Liver Neoplasms, Experimental [MESH:D008114] (2837) |
|
|
Mammary Neoplasms, Experimental [MESH:D008325] (3268) |
|
|
|
|
|
Burkitt Lymphoma [MESH:D002051] (691) |
|
|
Hamartoma Syndrome, Multiple [MESH:D006223] (262) |
|
|
Tuberous Sclerosis [MESH:D014402] (635) |
|
|
Anaplasia [MESH:D000708] (348) |
|
|
Neoplasm Invasiveness [MESH:D009361] (3388) |
|
|
Neoplasm Recurrence, Local [MESH:D009364] (1949) |
|
|
Neoplasm, Residual [MESH:D018365] (478) |
|
|
Cell Transformation, Neoplastic [MESH:D002471] (3389) |
|
|
Lymphatic Metastasis [MESH:D008207] (917) |
|
|
Meningioma, familial [MESH:C537443] (195) |
|
|
Juvenile polyposis syndrome [MESH:C537702] (196) |
|
|
Hamartoma Syndrome, Multiple [MESH:D006223] (260) |
|
|
Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143) |
|
|
Li-Fraumeni Syndrome [MESH:D016864] (859) |
|
|
Tuberous Sclerosis [MESH:D014402] (635) |
|
|
Wilms Tumor [MESH:D009396] (553) |
|
|
Polyposis Syndrome, Hereditary Mixed, 2 [MESH:C566451] (26) |
|
|
Schwannomatosis [MESH:C536641] (29) |
|
|
Neurofibromatosis 2 [MESH:D016518] (29) |
|
|
|
|
|
Xeroderma pigmentosum, variant type [MESH:C536766] (22) |
|
|
|
|
|
Burkitt Lymphoma [MESH:D002051] (691) |
|
 |
C05. Musculoskeletal Diseases |
 |
 |
|
C05. Musculoskeletal Diseases |
|
|
|
|
|
|
|
|
Weill-Marchesani Syndrome [MESH:D056846] (65) |
|
|
Keratosis palmoplantaris with periodontopathia and onychogryposis [MESH:C537627] (73) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
Laron Syndrome [MESH:D046150] (91) |
|
|
Mulibrey Nanism [MESH:D050336] (18) |
|
|
Weill-Marchesani Syndrome [MESH:D056846] (65) |
|
|
Short Stature, Idiopathic, Autosomal [MESH:C565805] (194) |
|
|
Focal Dermal Hypoplasia [MESH:D005489] (22) |
|
|
|
|
|
Roberts Syndrome [MESH:C535687] (32) |
|
|
Antley-Bixler Syndrome Phenotype [MESH:D054882] (284) |
|
|
Craniosynostosis radial aplasia syndrome [MESH:C536788] (30) |
|
|
Shprintzen Golberg craniosynostosis [MESH:C537328] (76) |
|
|
Bohring syndrome [MESH:C537419] (26) |
|
|
Jackson-Weiss syndrome [MESH:C537559] (149) |
|
|
Oculopalatoskeletal syndrome [MESH:C537738] (45) |
|
|
Cutis Gyrata Syndrome of Beare And Stevenson [MESH:C565129] (85) |
|
|
Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (85) |
|
|
Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149) |
|
|
Lacrimoauriculodentodigital syndrome [MESH:C538132] (149) |
|
|
Syndactyly Cenani Lenz type [MESH:C538150] (26) |
|
|
Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149) |
|
|
Shprintzen Golberg craniosynostosis [MESH:C537328] (76) |
|
|
Cantu syndrome [MESH:C535572] (42) |
|
|
Ghosal Hematodiaphyseal Dysplasia [MESH:C565551] (58) |
|
|
Cleidocranial Dysplasia [MESH:D002973] (129) |
|
|
Ellis-Van Creveld Syndrome [MESH:D004613] (50) |
|
|
Fibrous Dysplasia of Bone [MESH:D005357] (737) |
|
|
Hyperostosis, Cortical, Congenital [MESH:D006958] (392) |
|
|
|
|
|
Rhizomelic chondrodysplasia punctata, type 3 [MESH:C537608] (26) |
|
|
Osteogenesis imperfecta, type 2A [MESH:C536042] (375) |
|
|
Osteogenesis imperfecta, type 3 [MESH:C536044] (375) |
|
|
Osteogenesis imperfecta, type 4 [MESH:C536045] (375) |
|
|
Osteopetrosis [MESH:D010022] (318) |
|
|
|
|
|
Short Stature, Idiopathic, Autosomal [MESH:C565805] (194) |
|
|
|
|
|
Microvillus inclusion disease [MESH:C537470] (28) |
|
|
Exudative vitreoretinopathy 1 [MESH:C536382] (34) |
|
|
Osteoporosis, Postmenopausal [MESH:D015663] (2351) |
|
|
|
|
|
|
|
|
Vitamin D-Dependent Rickets, Type 2A [MESH:C562794] (137) |
|
|
Hypophosphatemic Rickets, Autosomal Recessive, 2 [MESH:C567647] (48) |
|
|
Alveolar Bone Loss [MESH:D016301] (220) |
|
|
|
|
|
Keratosis palmoplantaris with periodontopathia and onychogryposis [MESH:C537627] (73) |
|
|
Hyperostosis, Cortical, Congenital [MESH:D006958] (392) |
|
|
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia [MESH:C563476] (57) |
|
|
|
|
|
Ossification of the posterior longitudinal ligament of the spine [MESH:C537143] (98) |
|
|
Kyphosis [MESH:D007738] (637) |
|
|
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis [MESH:C564593] (8) |
|
|
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis [MESH:C567770] (35) |
|
|
|
|
|
|
|
|
Arthritis, Psoriatic [MESH:D015535] (1859) |
|
|
Spondylitis, Ankylosing [MESH:D013167] (431) |
|
|
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities [MESH:C567716] (33) |
|
|
|
|
|
Vertical talus, congenital [MESH:C536345] (14) |
|
|
Jackson-Weiss syndrome [MESH:C537559] (149) |
|
|
Synpolydactyly 2 [MESH:C564278] (43) |
|
|
|
|
|
Ectodermal dysplasia, ectrodactyly, and macular dystrophy [MESH:C536190] (34) |
|
|
Synpolydactyly 2 [MESH:C564278] (43) |
|
|
|
|
|
|
|
|
Orofacial Cleft 5 [MESH:C563843] (38) |
|
|
Orofacial Cleft 1 [MESH:C566121] (81) |
|
|
Meier-Gorlin syndrome [MESH:C538012] (133) |
|
|
Arthralgia [MESH:D018771] (191) |
|
|
Spondylitis, Ankylosing [MESH:D013167] (431) |
|
|
Arthritis, Experimental [MESH:D001169] (3142) |
|
|
Arthritis, Infectious [MESH:D001170] (1702) |
|
|
Arthritis, Juvenile [MESH:D001171] (1060) |
|
|
Arthritis, Psoriatic [MESH:D015535] (1859) |
|
|
Arthritis, Rheumatoid [MESH:D001172] (3603) |
|
|
Osteoarthritis [MESH:D010003] (1743) |
|
|
|
|
|
Arthritis, Psoriatic [MESH:D015535] (1859) |
|
|
Spondylitis, Ankylosing [MESH:D013167] (431) |
|
|
Lethal congenital contracture syndrome 1 [MESH:C537194] (14) |
|
|
Lethal Arthrogryposis With Anterior Horn Cell Disease [MESH:C567502] (14) |
|
|
Congenital contractural arachnodactyly [MESH:C536211] (47) |
|
|
Stiff Skin Syndrome [MESH:C566112] (62) |
|
|
Muscle Rigidity [MESH:D009127] (617) |
|
|
Muscle Weakness [MESH:D018908] (478) |
|
|
Lethal congenital contracture syndrome 1 [MESH:C537194] (14) |
|
|
Lethal Arthrogryposis With Anterior Horn Cell Disease [MESH:C567502] (14) |
|
|
Congenital contractural arachnodactyly [MESH:C536211] (47) |
|
|
Stiff Skin Syndrome [MESH:C566112] (62) |
|
|
|
|
|
MELAS Syndrome [MESH:D017241] (1061) |
|
|
MERRF Syndrome [MESH:D017243] (1053) |
|
|
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 [MESH:C563750] (56) |
|
|
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis [MESH:C564593] (8) |
|
|
Kearns-Sayre Syndrome [MESH:D007625] (1054) |
|
|
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps [MESH:C567088] (77) |
|
|
Optic atrophy polyneuropathy deafness [MESH:C537129] (31) |
|
|
Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854) |
|
|
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia [MESH:C563476] (57) |
|
|
Dermatomyositis [MESH:D003882] (1826) |
|
|
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia [MESH:C563476] (57) |
|
|
Dermatomyositis [MESH:D003882] (1826) |
|
|
Paramyotonia congenita of Von Eulenburg [MESH:C538616] (22) |
|
|
Potassium aggravated myotonia [MESH:C538353] (22) |
|
|
Paralysis, Hyperkalemic Periodic [MESH:D020513] (42) |
|
|
Hypokalemic Periodic Paralysis, Type 2 [MESH:C567635] (22) |
|
|
|
|
|
Lethal congenital contracture syndrome 1 [MESH:C537194] (14) |
|
|
Lethal Arthrogryposis With Anterior Horn Cell Disease [MESH:C567502] (14) |
|
|
Roberts Syndrome [MESH:C535687] (32) |
|
|
Malpuech facial clefting syndrome [MESH:C535704] (45) |
|
|
Hennekam lymphangiectasia lymphedema syndrome [MESH:C537255] (14) |
|
|
Cleidocranial Dysplasia [MESH:D002973] (129) |
|
|
Holoprosencephaly [MESH:D016142] (218) |
|
|
Silver-Russell Syndrome [MESH:D056730] (142) |
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
|
|
|
Roberts Syndrome [MESH:C535687] (32) |
|
|
Craniosynostosis radial aplasia syndrome [MESH:C536788] (30) |
|
|
Shprintzen Golberg craniosynostosis [MESH:C537328] (76) |
|
|
Bohring syndrome [MESH:C537419] (26) |
|
|
Jackson-Weiss syndrome [MESH:C537559] (149) |
|
|
Oculopalatoskeletal syndrome [MESH:C537738] (45) |
|
|
Cutis Gyrata Syndrome of Beare And Stevenson [MESH:C565129] (85) |
|
|
Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (85) |
|
|
Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149) |
|
|
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis [MESH:C567770] (35) |
|
|
|
|
|
|
|
|
Orofacial Cleft 5 [MESH:C563843] (38) |
|
|
Orofacial Cleft 1 [MESH:C566121] (81) |
|
|
Meier-Gorlin syndrome [MESH:C538012] (133) |
|
|
Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (85) |
|
|
Oculodigitoesophagoduodenal syndrome [MESH:C537734] (58) |
|
|
Amish lethal microcephaly [MESH:C538247] (29) |
|
|
Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83) |
|
|
Phosphoserine Aminotransferase Deficiency [MESH:C567032] (85) |
|
|
Plagiocephaly, Nonsynostotic [MESH:D049068] (85) |
|
|
Craniosynostosis radial aplasia syndrome [MESH:C536788] (30) |
|
|
Shprintzen Golberg craniosynostosis [MESH:C537328] (76) |
|
|
Bohring syndrome [MESH:C537419] (26) |
|
|
Jackson-Weiss syndrome [MESH:C537559] (149) |
|
|
Oculopalatoskeletal syndrome [MESH:C537738] (45) |
|
|
Cutis Gyrata Syndrome of Beare And Stevenson [MESH:C565129] (85) |
|
|
Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (85) |
|
|
Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149) |
|
|
Carnevale syndrome [MESH:C535586] (45) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
Weyers acrofacial dysostosis [MESH:C536695] (11) |
|
|
Oculodigitoesophagoduodenal syndrome [MESH:C537734] (58) |
|
|
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects [MESH:C562515] (45) |
|
|
Congenital contractural arachnodactyly [MESH:C536211] (47) |
|
|
Shprintzen Golberg craniosynostosis [MESH:C537328] (76) |
|
|
Roberts Syndrome [MESH:C535687] (32) |
|
|
Tetra-amelia autosomal recessive [MESH:C536498] (19) |
|
|
|
|
|
Vertical talus, congenital [MESH:C536345] (14) |
|
|
Jackson-Weiss syndrome [MESH:C537559] (149) |
|
|
Synpolydactyly 2 [MESH:C564278] (43) |
|
|
Synpolydactyly 2 [MESH:C564278] (43) |
|
|
Lacrimoauriculodentodigital syndrome [MESH:C538132] (149) |
|
|
Syndactyly Cenani Lenz type [MESH:C538150] (26) |
|
|
Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149) |
|
|
|
|
|
Ectodermal dysplasia, ectrodactyly, and macular dystrophy [MESH:C536190] (34) |
|
|
Synpolydactyly 2 [MESH:C564278] (43) |
|
|
Antley-Bixler Syndrome Phenotype [MESH:D054882] (284) |
|
|
Craniosynostosis radial aplasia syndrome [MESH:C536788] (30) |
|
|
Shprintzen Golberg craniosynostosis [MESH:C537328] (76) |
|
|
Bohring syndrome [MESH:C537419] (26) |
|
|
Jackson-Weiss syndrome [MESH:C537559] (149) |
|
|
Oculopalatoskeletal syndrome [MESH:C537738] (45) |
|
|
Cutis Gyrata Syndrome of Beare And Stevenson [MESH:C565129] (85) |
|
|
Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (85) |
|
|
Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149) |
|
|
Lacrimoauriculodentodigital syndrome [MESH:C538132] (149) |
|
|
Syndactyly Cenani Lenz type [MESH:C538150] (26) |
|
|
Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149) |
|
|
Arthritis, Juvenile [MESH:D001171] (1060) |
|
|
Arthritis, Rheumatoid [MESH:D001172] (3603) |
|
|
Osteoarthritis [MESH:D010003] (1743) |
|
 |
C06. Digestive System Diseases |
 |
 |
|
C06. Digestive System Diseases |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
North American Indian Childhood Cirrhosis [MESH:C565737] (19) |
|
|
|
|
|
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78) |
|
|
Gallstones [MESH:D042882] (350) |
|
|
|
|
|
Gallstones [MESH:D042882] (350) |
|
|
|
|
|
|
|
|
Oculodigitoesophagoduodenal syndrome [MESH:C537734] (58) |
|
|
|
|
|
Stomach Neoplasms [MESH:D013274] (4942) |
|
|
Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396) |
|
|
Cecal Neoplasms [MESH:D002430] (822) |
|
|
Rectal Neoplasms [MESH:D012004] (717) |
|
|
|
|
|
Polyposis Syndrome, Hereditary Mixed, 2 [MESH:C566451] (26) |
|
|
Hepatic Adenomas, Familial [MESH:C564190] (49) |
|
|
Carcinoma, Hepatocellular [MESH:D006528] (5375) |
|
|
Liver Neoplasms, Experimental [MESH:D008114] (2837) |
|
|
Carcinoma, Pancreatic Ductal [MESH:D021441] (1056) |
|
|
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities [MESH:C567716] (33) |
|
|
|
|
|
|
|
|
|
|
|
Achalasia Addisonianism Alacrimia syndrome [MESH:C536008] (24) |
|
|
|
|
|
Oculodigitoesophagoduodenal syndrome [MESH:C537734] (58) |
|
|
Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396) |
|
|
Appendicitis [MESH:D001064] (774) |
|
|
Mucositis [MESH:D052016] (1238) |
|
|
Colitis, Ulcerative [MESH:D003093] (2601) |
|
|
Enterocolitis, Necrotizing [MESH:D020345] (1367) |
|
|
Gastritis, Atrophic [MESH:D005757] (947) |
|
|
Colitis, Ulcerative [MESH:D003093] (2601) |
|
|
Crohn Disease [MESH:D003424] (2585) |
|
|
Stomach Neoplasms [MESH:D013274] (4942) |
|
|
Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396) |
|
|
Cecal Neoplasms [MESH:D002430] (822) |
|
|
Rectal Neoplasms [MESH:D012004] (717) |
|
|
|
|
|
Polyposis Syndrome, Hereditary Mixed, 2 [MESH:C566451] (26) |
|
|
Intestinal Perforation [MESH:D007416] (471) |
|
|
Mesenteric Vascular Occlusion [MESH:D008641] (147) |
|
|
Appendicitis [MESH:D001064] (774) |
|
|
Cecal Neoplasms [MESH:D002430] (822) |
|
|
|
|
|
Colitis, Ulcerative [MESH:D003093] (2601) |
|
|
Irritable Bowel Syndrome [MESH:D043183] (429) |
|
|
|
|
|
|
|
|
Polyposis Syndrome, Hereditary Mixed, 2 [MESH:C566451] (26) |
|
|
Peptic Ulcer [MESH:D010437] (1969) |
|
|
Enterocolitis, Necrotizing [MESH:D020345] (1367) |
|
|
Colitis, Ulcerative [MESH:D003093] (2601) |
|
|
Crohn Disease [MESH:D003424] (2585) |
|
|
Cecal Neoplasms [MESH:D002430] (822) |
|
|
Rectal Neoplasms [MESH:D012004] (717) |
|
|
|
|
|
Polyposis Syndrome, Hereditary Mixed, 2 [MESH:C566451] (26) |
|
|
Juvenile polyposis syndrome [MESH:C537702] (196) |
|
|
Polyposis Syndrome, Hereditary Mixed, 2 [MESH:C566451] (26) |
|
|
Microvillus inclusion disease [MESH:C537470] (28) |
|
|
Celiac Disease [MESH:D002446] (340) |
|
|
Lactose Intolerance, Adult Type [MESH:C562601] (112) |
|
|
|
|
|
Rectal Neoplasms [MESH:D012004] (717) |
|
|
Stomach Ulcer [MESH:D013276] (2915) |
|
|
Stomach Neoplasms [MESH:D013274] (4942) |
|
|
Gastritis, Atrophic [MESH:D005757] (947) |
|
|
Stomach Ulcer [MESH:D013276] (2915) |
|
|
Drug-Induced Liver Injury [MESH:D056486] (4936) |
|
|
Hepatolenticular Degeneration [MESH:D006527] (473) |
|
|
Hepatomegaly [MESH:D006529] (1169) |
|
|
Hypertension, Portal [MESH:D006975] (869) |
|
|
Peliosis Hepatis [MESH:D010382] (36) |
|
|
|
|
|
North American Indian Childhood Cirrhosis [MESH:C565737] (19) |
|
|
Non-alcoholic Fatty Liver Disease [MESH:C541083] (1567) |
|
|
|
|
|
Liver Failure, Acute [MESH:D017114] (2404) |
|
|
Combined Oxidative Phosphorylation Deficiency 1 [MESH:C563797] (24) |
|
|
Hepatitis, Alcoholic [MESH:D006519] (1613) |
|
|
Hepatitis, Animal [MESH:D006520] (260) |
|
|
Hepatitis, Autoimmune [MESH:D019693] (1982) |
|
|
Hepatitis B [MESH:D006509] (976) |
|
|
Hepatitis C [MESH:D006526] (1627) |
|
|
Liver Cirrhosis, Alcoholic [MESH:D008104] (3066) |
|
|
Liver Cirrhosis, Experimental [MESH:D008106] (4589) |
|
|
North American Indian Childhood Cirrhosis [MESH:C565737] (19) |
|
|
Hepatitis, Alcoholic [MESH:D006519] (1613) |
|
|
Liver Cirrhosis, Alcoholic [MESH:D008104] (3066) |
|
|
Hepatic Adenomas, Familial [MESH:C564190] (49) |
|
|
Carcinoma, Hepatocellular [MESH:D006528] (5375) |
|
|
Liver Neoplasms, Experimental [MESH:D008114] (2837) |
|
|
Coproporphyria, Hereditary [MESH:D046349] (38) |
|
|
Porphyria, Acute Intermittent [MESH:D017118] (61) |
|
|
Porphyria Cutanea Tarda [MESH:D017119] (766) |
|
|
|
|
|
Renal hepatic pancreatic dysplasia Dandy Walker cyst [MESH:C537756] (11) |
|
|
Carcinoma, Pancreatic Ductal [MESH:D021441] (1056) |
|
|
Mesenteric Vascular Occlusion [MESH:D008641] (147) |
|
|
Peritonitis [MESH:D010538] (800) |
|
 |
C07. Stomatognathic Diseases |
 |
 |
|
C07. Stomatognathic Diseases |
|
|
|
|
|
|
|
|
|
|
|
Orofacial Cleft 5 [MESH:C563843] (38) |
|
|
Orofacial Cleft 1 [MESH:C566121] (81) |
|
|
Meier-Gorlin syndrome [MESH:C538012] (133) |
|
|
|
|
|
Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (98) |
|
|
Behcet Syndrome [MESH:D001528] (1784) |
|
|
Mucositis [MESH:D052016] (1238) |
|
|
Oral Submucous Fibrosis [MESH:D009914] (2432) |
|
|
|
|
|
Orofacial Cleft 5 [MESH:C563843] (38) |
|
|
Orofacial Cleft 1 [MESH:C566121] (81) |
|
|
|
|
|
Orofacial Cleft 5 [MESH:C563843] (38) |
|
|
Orofacial Cleft 1 [MESH:C566121] (81) |
|
|
Orofacial Cleft 5 [MESH:C563843] (38) |
|
|
Orofacial Cleft 1 [MESH:C566121] (81) |
|
|
Salivary Gland Neoplasms [MESH:D012468] (968) |
|
|
Tongue Neoplasms [MESH:D014062] (1518) |
|
|
|
|
|
|
|
|
Gingival Hyperplasia [MESH:D005885] (161) |
|
|
Alveolar Bone Loss [MESH:D016301] (220) |
|
|
Aggressive Periodontitis [MESH:D010520] (74) |
|
|
Chronic Periodontitis [MESH:D055113] (231) |
|
|
Aplasia of Lacrimal and Salivary Glands [MESH:C562407] (42) |
|
|
Salivary Gland Neoplasms [MESH:D012468] (968) |
|
|
Tongue Neoplasms [MESH:D014062] (1518) |
|
|
|
|
|
Nasopharyngeal Neoplasms [MESH:D009303] (1500) |
|
|
Nasopharyngeal Neoplasms [MESH:D009303] (1500) |
|
|
|
|
|
|
|
|
|
|
|
Orofacial Cleft 5 [MESH:C563843] (38) |
|
|
Orofacial Cleft 1 [MESH:C566121] (81) |
|
|
Meier-Gorlin syndrome [MESH:C538012] (133) |
|
|
Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (98) |
|
|
|
|
|
Orofacial Cleft 5 [MESH:C563843] (38) |
|
|
Orofacial Cleft 1 [MESH:C566121] (81) |
|
|
Orofacial Cleft 5 [MESH:C563843] (38) |
|
|
Orofacial Cleft 1 [MESH:C566121] (81) |
|
|
Weyers acrofacial dysostosis [MESH:C536695] (11) |
|
|
Lacrimoauriculodentodigital syndrome [MESH:C538132] (149) |
|
|
Witkop syndrome [MESH:C536736] (38) |
|
|
Schopf-Schulz-Passarge Syndrome [MESH:C565607] (21) |
|
|
Odontoonychodermal dysplasia [MESH:C537742] (21) |
|
|
|
|
|
Weyers acrofacial dysostosis [MESH:C536695] (11) |
|
|
Lacrimoauriculodentodigital syndrome [MESH:C538132] (149) |
|
|
Witkop syndrome [MESH:C536736] (38) |
|
|
Schopf-Schulz-Passarge Syndrome [MESH:C565607] (21) |
|
|
Odontoonychodermal dysplasia [MESH:C537742] (21) |
|
 |
C08. Respiratory Tract Diseases |
 |
 |
|
C08. Respiratory Tract Diseases |
|
|
Not Fully Specified [NFS] (1984) |
|
|
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities [MESH:C567716] (33) |
|
|
Bronchial Hyperreactivity [MESH:D016535] (1357) |
|
|
Bronchiectasis [MESH:D001987] (1792) |
|
|
|
|
|
Asthma, Nasal Polyps, And Aspirin Intolerance [MESH:C565935] (80) |
|
|
Bronchitis, Chronic [MESH:D029481] (569) |
|
|
Bronchiolitis Obliterans [MESH:D001989] (611) |
|
|
Ciliary Dyskinesia, Primary, 12 [MESH:C567211] (11) |
|
|
Laryngo onycho cutaneous syndrome [MESH:C537032] (49) |
|
|
Hypertension, Pulmonary [MESH:D006976] (2000) |
|
|
Plasma Cell Granuloma, Pulmonary [MESH:D016726] (63) |
|
|
Pneumonia [MESH:D011014] (3482) |
|
|
Pulmonary Edema [MESH:D011654] (2109) |
|
|
Pulmonary Fibrosis [MESH:D011658] (3140) |
|
|
|
|
|
Anthracosis [MESH:D055008] (1805) |
|
|
Berylliosis [MESH:D001607] (2005) |
|
|
Asthma [MESH:D001249] (3903) |
|
|
Bronchitis, Chronic [MESH:D029481] (569) |
|
|
Bronchiolitis Obliterans [MESH:D001989] (611) |
|
|
Bronchitis, Chronic [MESH:D029481] (569) |
|
|
Pulmonary Emphysema [MESH:D011656] (1259) |
|
|
Acute Lung Injury [MESH:D055371] (1907) |
|
|
Anthracosis [MESH:D055008] (1805) |
|
|
Berylliosis [MESH:D001607] (2005) |
|
|
Bronchopulmonary Dysplasia [MESH:D001997] (1021) |
|
|
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) |
|
|
Sinusitis [MESH:D012852] (469) |
|
|
|
|
|
Allergic Rhinitis [MESH:C567078] (181) |
|
|
Pleurisy [MESH:D010998] (2070) |
|
|
|
|
|
Pitt-Hopkins syndrome [MESH:C537403] (113) |
|
|
Ige Responsiveness, Atopic [MESH:C564133] (267) |
|
|
|
|
|
Asthma, Nasal Polyps, And Aspirin Intolerance [MESH:C565935] (80) |
|
|
Allergic Rhinitis [MESH:C567078] (181) |
|
|
|
|
|
Oculodigitoesophagoduodenal syndrome [MESH:C537734] (58) |
|
|
Influenza, Human [MESH:D007251] (1075) |
|
|
Pleurisy [MESH:D010998] (2070) |
|
|
Pneumonia [MESH:D011014] (3482) |
|
|
Rhinitis [MESH:D012220] (766) |
|
|
Sinusitis [MESH:D012852] (469) |
|
|
Bronchitis, Chronic [MESH:D029481] (569) |
|
|
Legionnaires' Disease [MESH:D007877] (611) |
|
|
|
|
|
Adenocarcinoma of lung [MESH:C538231] (1487) |
|
|
|
|
|
Carcinoma, Non-Small-Cell Lung [MESH:D002289] (3540) |
|
|
Small Cell Lung Carcinoma [MESH:D055752] (1380) |
|
|
|
|
|
Oculodigitoesophagoduodenal syndrome [MESH:C537734] (58) |
|
 |
C09. Otorhinolaryngologic Diseases |
 |
 |
|
C09. Otorhinolaryngologic Diseases |
|
|
|
|
|
Ciliary Dyskinesia, Primary, 12 [MESH:C567211] (11) |
|
|
|
|
|
|
|
|
Lacrimoauriculodentodigital syndrome [MESH:C538132] (149) |
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e [MESH:C566136] (76) |
|
|
Arts syndrome [MESH:C535388] (31) |
|
|
Chudley-Mccullough syndrome [MESH:C535459] (45) |
|
|
Donnai-Barrow syndrome [MESH:C536390] (40) |
|
|
Pendred syndrome [MESH:C536648] (35) |
|
|
Barakat syndrome [MESH:C537907] (71) |
|
|
Deafness, Autosomal Recessive 12 [MESH:C563327] (46) |
|
|
Deafness, X-Linked 1 [MESH:C564433] (31) |
|
|
Deafness, Autosomal Dominant 20 [MESH:C565754] (69) |
|
|
Hearing Loss, Noise-Induced [MESH:D006317] (134) |
|
|
Optic atrophy polyneuropathy deafness [MESH:C537129] (31) |
|
|
Vestibular Diseases [MESH:D015837] (819) |
|
|
|
|
|
|
|
|
Optic atrophy polyneuropathy deafness [MESH:C537129] (31) |
|
|
|
|
|
Neurofibromatosis 2 [MESH:D016518] (29) |
|
|
Laryngo onycho cutaneous syndrome [MESH:C537032] (49) |
|
|
|
|
|
Asthma, Nasal Polyps, And Aspirin Intolerance [MESH:C565935] (80) |
|
|
Sinusitis [MESH:D012852] (469) |
|
|
|
|
|
Allergic Rhinitis [MESH:C567078] (181) |
|
|
|
|
|
Neurofibromatosis 2 [MESH:D016518] (29) |
|
|
Nasopharyngeal Neoplasms [MESH:D009303] (1500) |
|
|
|
|
|
Nasopharyngeal Neoplasms [MESH:D009303] (1500) |
|
|
Nasopharyngeal Neoplasms [MESH:D009303] (1500) |
|
 |
C10. Nervous System Diseases |
 |
 |
|
C10. Nervous System Diseases |
|
|
Not Fully Specified [NFS] (4027) |
|
|
Restless Legs Syndrome [MESH:D012148] (379) |
|
|
Aicardi-Goutieres syndrome [MESH:C535607] (57) |
|
|
|
|
|
Multiple Sclerosis, Relapsing-Remitting [MESH:D020529] (170) |
|
|
Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172) |
|
|
|
|
|
Familial porencephaly [MESH:C536850] (77) |
|
|
Brain Injuries [MESH:D001930] (3429) |
|
|
Brain Neoplasms [MESH:D001932] (2764) |
|
|
|
|
|
Optic atrophy polyneuropathy deafness [MESH:C537129] (31) |
|
|
Hepatolenticular Degeneration [MESH:D006527] (473) |
|
|
Huntington Disease [MESH:D006816] (540) |
|
|
|
|
|
Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31) |
|
|
Striatonigral degeneration infantile [MESH:C537500] (22) |
|
|
Lewy Body Disease [MESH:D020961] (1143) |
|
|
Parkinson Disease [MESH:D010300] (3595) |
|
|
Parkinson Disease, Secondary [MESH:D010302] (327) |
|
|
|
|
|
Creatine deficiency, X-linked [MESH:C535598] (58) |
|
|
Galactosemias [MESH:D005693] (69) |
|
|
Hepatolenticular Degeneration [MESH:D006527] (473) |
|
|
Lesch-Nyhan Syndrome [MESH:D007926] (129) |
|
|
MELAS Syndrome [MESH:D017241] (1061) |
|
|
MERRF Syndrome [MESH:D017243] (1053) |
|
|
Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333) |
|
|
Megalencephalic leukoencephalopathy with subcortical cysts [MESH:C536141] (28) |
|
|
Vasculopathy, Retinal, With Cerebral Leukodystrophy [MESH:C566007] (37) |
|
|
Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178) |
|
|
Adrenoleukodystrophy [MESH:D000326] (1348) |
|
|
Pelizaeus-Merzbacher Disease [MESH:D020371] (103) |
|
|
Leigh syndrome , French Canadian type [MESH:C537004] (35) |
|
|
|
|
|
Microvillus inclusion disease [MESH:C537470] (28) |
|
|
Sea-Blue Histiocyte Syndrome [MESH:D012618] (165) |
|
|
|
|
|
Niemann-Pick disease, type C2 [MESH:C536119] (43) |
|
|
Adrenoleukodystrophy [MESH:D000326] (1348) |
|
|
Mevalonate Kinase Deficiency [MESH:D054078] (38) |
|
|
|
|
|
Neonatal-onset citrullinemia type 2 [MESH:C536398] (35) |
|
|
Adult-onset citrullinemia type 2 [MESH:C538053] (35) |
|
|
Combined Oxidative Phosphorylation Deficiency 1 [MESH:C563797] (24) |
|
|
|
|
|
Dysequilibrium syndrome [MESH:C535731] (83) |
|
|
Episodic Ataxia, Type 6 [MESH:C567207] (70) |
|
|
Anemia, sideroblastic spinocerebellar ataxia [MESH:C536358] (15) |
|
|
Spinocerebellar Ataxia 31 [MESH:C566146] (15) |
|
|
Renal hepatic pancreatic dysplasia Dandy Walker cyst [MESH:C537756] (11) |
|
|
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy [MESH:C537313] (22) |
|
|
Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31) |
|
|
Anemia, sideroblastic spinocerebellar ataxia [MESH:C536358] (15) |
|
|
Spinocerebellar Ataxia 31 [MESH:C566146] (15) |
|
|
Intracranial Arteriovenous Malformations [MESH:D002538] (1015) |
|
|
Vasospasm, Intracranial [MESH:D020301] (324) |
|
|
Ischemic Attack, Transient [MESH:D002546] (1313) |
|
|
|
|
|
Infarction, Middle Cerebral Artery [MESH:D020244] (2268) |
|
|
Carotid Artery Thrombosis [MESH:D002341] (138) |
|
|
Carotid Stenosis [MESH:D016893] (174) |
|
|
MELAS Syndrome [MESH:D017241] (1061) |
|
|
Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333) |
|
|
|
|
|
Infarction, Middle Cerebral Artery [MESH:D020244] (2268) |
|
|
|
|
|
Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333) |
|
|
|
|
|
Sinus Thrombosis, Intracranial [MESH:D012851] (356) |
|
|
|
|
|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type [MESH:C537944] (333) |
|
|
|
|
|
Hematoma, Subdural, Acute [MESH:D020199] (63) |
|
|
|
|
|
|
|
|
Infarction, Middle Cerebral Artery [MESH:D020244] (2268) |
|
|
Huntington Disease [MESH:D006816] (540) |
|
|
Lewy Body Disease [MESH:D020961] (1143) |
|
|
Alzheimer disease type 2 [MESH:C536595] (165) |
|
|
|
|
|
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia [MESH:C563476] (57) |
|
|
Epilepsy, Generalized [MESH:D004829] (1431) |
|
|
Seizures, Febrile [MESH:D003294] (229) |
|
|
Status Epilepticus [MESH:D013226] (4014) |
|
|
Myoclonic Epilepsy, Juvenile [MESH:D020190] (166) |
|
|
MERRF Syndrome [MESH:D017243] (1053) |
|
|
Epilepsy, Temporal Lobe [MESH:D004833] (1108) |
|
|
Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83) |
|
|
Phosphoserine Aminotransferase Deficiency [MESH:C567032] (85) |
|
|
|
|
|
|
|
|
Migraine without Aura [MESH:D020326] (408) |
|
|
|
|
|
Renal hepatic pancreatic dysplasia Dandy Walker cyst [MESH:C537756] (11) |
|
|
|
|
|
|
|
|
|
|
|
Short Stature, Idiopathic, Autosomal [MESH:C565805] (194) |
|
|
|
|
|
|
|
|
Renal hepatic pancreatic dysplasia Dandy Walker cyst [MESH:C537756] (11) |
|
|
Brain Small Vessel Disease with Hemorrhage [MESH:C564372] (77) |
|
|
Megalencephalic leukoencephalopathy with subcortical cysts [MESH:C536141] (28) |
|
|
Vasculopathy, Retinal, With Cerebral Leukodystrophy [MESH:C566007] (37) |
|
|
Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178) |
|
|
Adrenoleukodystrophy [MESH:D000326] (1348) |
|
|
Pelizaeus-Merzbacher Disease [MESH:D020371] (103) |
|
|
|
|
|
|
|
|
|
|
|
Encephalitis, Herpes Simplex [MESH:D020803] (72) |
|
|
West Nile Fever [MESH:D014901] (73) |
|
|
Meningitis, Aseptic [MESH:D008582] (1305) |
|
|
|
|
|
Encephalitis, Herpes Simplex [MESH:D020803] (72) |
|
|
West Nile Fever [MESH:D014901] (73) |
|
|
Meningitis, Aseptic [MESH:D008582] (1305) |
|
|
Meningitis, Aseptic [MESH:D008582] (1305) |
|
|
Hepatolenticular Degeneration [MESH:D006527] (473) |
|
|
Dyskinesia, Drug-Induced [MESH:D004409] (1389) |
|
|
Huntington Disease [MESH:D006816] (540) |
|
|
Myoclonic dystonia [MESH:C536096] (245) |
|
|
|
|
|
Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31) |
|
|
Striatonigral degeneration infantile [MESH:C537500] (22) |
|
|
Lewy Body Disease [MESH:D020961] (1143) |
|
|
Parkinson Disease [MESH:D010300] (3595) |
|
|
Parkinson Disease, Secondary [MESH:D010302] (327) |
|
|
Spinal Cord Compression [MESH:D013117] (1800) |
|
|
Spinal Cord Injuries [MESH:D013119] (1674) |
|
|
Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559) |
|
|
Amyotrophic Lateral Sclerosis, Sporadic [MESH:C566291] (239) |
|
|
Amyotrophic Lateral Sclerosis 10 [MESH:C567429] (36) |
|
|
|
|
|
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 [MESH:C567023] (12) |
|
|
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy [MESH:C537313] (22) |
|
|
Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31) |
|
|
Anemia, sideroblastic spinocerebellar ataxia [MESH:C536358] (15) |
|
|
Spinocerebellar Ataxia 31 [MESH:C566146] (15) |
|
|
|
|
|
|
|
|
Neurofibromatosis 2 [MESH:D016518] (29) |
|
|
|
|
|
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) |
|
|
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis [MESH:C564593] (8) |
|
|
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 [MESH:C563750] (56) |
|
|
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis [MESH:C564593] (8) |
|
|
Kearns-Sayre Syndrome [MESH:D007625] (1054) |
|
|
Carnevale syndrome [MESH:C535586] (45) |
|
|
|
|
|
|
|
|
Optic atrophy polyneuropathy deafness [MESH:C537129] (31) |
|
|
Optic Atrophy, Hereditary, Leber [MESH:D029242] (1100) |
|
|
|
|
|
Neurofibromatosis 2 [MESH:D016518] (29) |
|
|
|
|
|
|
|
|
Multiple Sclerosis, Relapsing-Remitting [MESH:D020529] (170) |
|
|
Megalencephalic leukoencephalopathy with subcortical cysts [MESH:C536141] (28) |
|
|
Vasculopathy, Retinal, With Cerebral Leukodystrophy [MESH:C566007] (37) |
|
|
Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178) |
|
|
Adrenoleukodystrophy [MESH:D000326] (1348) |
|
|
Pelizaeus-Merzbacher Disease [MESH:D020371] (103) |
|
|
Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172) |
|
|
Aicardi-Goutieres syndrome [MESH:C535607] (57) |
|
|
Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172) |
|
|
Chudley-Mccullough syndrome [MESH:C535459] (45) |
|
|
Donnai-Barrow syndrome [MESH:C536390] (40) |
|
|
Holoprosencephaly [MESH:D016142] (218) |
|
|
|
|
|
Chudley-Mccullough syndrome [MESH:C535459] (45) |
|
|
Intracranial Arteriovenous Malformations [MESH:D002538] (1015) |
|
|
Renal hepatic pancreatic dysplasia Dandy Walker cyst [MESH:C537756] (11) |
|
|
Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive [MESH:C564948] (44) |
|
|
Charcot-Marie-Tooth disease, Type 4E [MESH:C535301] (121) |
|
|
Charcot-Marie-Tooth disease, Type 4C [MESH:C535423] (7) |
|
|
Charcot-Marie-Tooth disease, Type 1D [MESH:C537985] (108) |
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e [MESH:C566136] (76) |
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2n [MESH:C567653] (33) |
|
|
Spastic paraplegia 10, autosomal dominant [MESH:C537482] (20) |
|
|
Spastic paraplegia 13, autosomal dominant [MESH:C537485] (178) |
|
|
Polymicrogyria, Bilateral Frontoparietal [MESH:C564652] (40) |
|
|
Polymicrogyria With Optic Nerve Hypoplasia [MESH:C567715] (29) |
|
|
Tuberous Sclerosis [MESH:D014402] (635) |
|
|
Norman Roberts lissencephaly syndrome [MESH:C537848] (58) |
|
|
Classical Lissencephalies and Subcortical Band Heterotopias [MESH:D054221] (114) |
|
|
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis [MESH:C567770] (35) |
|
|
Oculodigitoesophagoduodenal syndrome [MESH:C537734] (58) |
|
|
Amish lethal microcephaly [MESH:C538247] (29) |
|
|
Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83) |
|
|
Phosphoserine Aminotransferase Deficiency [MESH:C567032] (85) |
|
|
Classical Lissencephalies and Subcortical Band Heterotopias [MESH:D054221] (114) |
|
|
Spinal Dysraphism [MESH:D016135] (1025) |
|
|
Neural tube defect, folate-sensitive [MESH:C536409] (111) |
|
|
Knobloch syndrome [MESH:C537209] (70) |
|
|
|
|
|
Brain Neoplasms [MESH:D001932] (2764) |
|
|
|
|
|
Chudley-Mccullough syndrome [MESH:C535459] (45) |
|
|
|
|
|
Meningioma, familial [MESH:C537443] (195) |
|
|
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome [MESH:C537943] (28) |
|
|
Tuberous Sclerosis [MESH:D014402] (635) |
|
|
Schwannomatosis [MESH:C536641] (29) |
|
|
Neurofibromatosis 2 [MESH:D016518] (29) |
|
|
Familial apoceruloplasmin deficiency [MESH:C536004] (211) |
|
|
Lewy Body Disease [MESH:D020961] (1143) |
|
|
Parkinson Disease [MESH:D010300] (3595) |
|
|
Hepatolenticular Degeneration [MESH:D006527] (473) |
|
|
Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172) |
|
|
Huntington Disease [MESH:D006816] (540) |
|
|
Lesch-Nyhan Syndrome [MESH:D007926] (129) |
|
|
Rett Syndrome [MESH:D015518] (143) |
|
|
Tuberous Sclerosis [MESH:D014402] (635) |
|
|
Megalencephalic leukoencephalopathy with subcortical cysts [MESH:C536141] (28) |
|
|
Vasculopathy, Retinal, With Cerebral Leukodystrophy [MESH:C566007] (37) |
|
|
Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178) |
|
|
Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive [MESH:C564948] (44) |
|
|
Charcot-Marie-Tooth disease, Type 4E [MESH:C535301] (121) |
|
|
Charcot-Marie-Tooth disease, Type 4C [MESH:C535423] (7) |
|
|
Charcot-Marie-Tooth disease, Type 1D [MESH:C537985] (108) |
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e [MESH:C566136] (76) |
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2n [MESH:C567653] (33) |
|
|
Spastic paraplegia 10, autosomal dominant [MESH:C537482] (20) |
|
|
Spastic paraplegia 13, autosomal dominant [MESH:C537485] (178) |
|
|
Potassium aggravated myotonia [MESH:C538353] (22) |
|
|
Schwannomatosis [MESH:C536641] (29) |
|
|
Neurofibromatosis 2 [MESH:D016518] (29) |
|
|
Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946) |
|
|
Optic atrophy polyneuropathy deafness [MESH:C537129] (31) |
|
|
Optic Atrophy, Hereditary, Leber [MESH:D029242] (1100) |
|
|
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 [MESH:C567023] (12) |
|
|
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy [MESH:C537313] (22) |
|
|
Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31) |
|
|
Anemia, sideroblastic spinocerebellar ataxia [MESH:C536358] (15) |
|
|
Spinocerebellar Ataxia 31 [MESH:C566146] (15) |
|
|
Lethal Arthrogryposis With Anterior Horn Cell Disease [MESH:C567502] (14) |
|
|
Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559) |
|
|
Amyotrophic Lateral Sclerosis, Sporadic [MESH:C566291] (239) |
|
|
Amyotrophic Lateral Sclerosis 10 [MESH:C567429] (36) |
|
|
|
|
|
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 [MESH:C567023] (12) |
|
|
|
|
|
Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31) |
|
|
Striatonigral degeneration infantile [MESH:C537500] (22) |
|
|
Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31) |
|
|
|
|
|
Alzheimer disease type 2 [MESH:C536595] (165) |
|
|
|
|
|
Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559) |
|
|
Amyotrophic Lateral Sclerosis, Sporadic [MESH:C566291] (239) |
|
|
Amyotrophic Lateral Sclerosis 10 [MESH:C567429] (36) |
|
|
|
|
|
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia [MESH:C563476] (57) |
|
|
Neurogenic Inflammation [MESH:D020078] (2246) |
|
|
Reflex, Abnormal [MESH:D012021] (485) |
|
|
Catalepsy [MESH:D002375] (1429) |
|
|
Hyperkinesis [MESH:D006948] (1799) |
|
|
Hypokinesia [MESH:D018476] (279) |
|
|
Arts syndrome [MESH:C535388] (31) |
|
|
Dysequilibrium syndrome [MESH:C535731] (83) |
|
|
Episodic Ataxia, Type 6 [MESH:C567207] (70) |
|
|
Anemia, sideroblastic spinocerebellar ataxia [MESH:C536358] (15) |
|
|
Spinocerebellar Ataxia 31 [MESH:C566146] (15) |
|
|
Lethargy [MESH:D053609] (1035) |
|
|
Learning Disorders [MESH:D007859] (2727) |
|
|
Language Development Disorders [MESH:D007805] (351) |
|
|
Arginine:Glycine Amidinotransferase Deficiency [MESH:C567192] (66) |
|
|
|
|
|
Amnesia, Retrograde [MESH:D000648] (53) |
|
|
Dysequilibrium syndrome [MESH:C535731] (83) |
|
|
Pitt-Hopkins syndrome [MESH:C537403] (113) |
|
|
Bohring syndrome [MESH:C537419] (26) |
|
|
Oculodigitoesophagoduodenal syndrome [MESH:C537734] (58) |
|
|
Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (85) |
|
|
Mental Retardation, Fra12a Type [MESH:C566980] (15) |
|
|
Arginine:Glycine Amidinotransferase Deficiency [MESH:C567192] (66) |
|
|
Mental Retardation, Autosomal Dominant 3 [MESH:C567241] (14) |
|
|
Down Syndrome [MESH:D004314] (1287) |
|
|
Williams Syndrome [MESH:D018980] (133) |
|
|
Creatine deficiency, X-linked [MESH:C535598] (58) |
|
|
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance [MESH:C537456] (25) |
|
|
Mental Retardation, X-Linked 63 [MESH:C564522] (64) |
|
|
Mental Retardation, X-Linked 94 [MESH:C567479] (55) |
|
|
Adrenoleukodystrophy [MESH:D000326] (1348) |
|
|
Fragile X Syndrome [MESH:D005600] (353) |
|
|
Lesch-Nyhan Syndrome [MESH:D007926] (129) |
|
|
Rett Syndrome [MESH:D015518] (143) |
|
|
Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83) |
|
|
Phosphoserine Aminotransferase Deficiency [MESH:C567032] (85) |
|
|
Muscle Weakness [MESH:D018908] (478) |
|
|
Myotonia [MESH:D009222] (32) |
|
|
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps [MESH:C567088] (77) |
|
|
Muscle Rigidity [MESH:D009127] (617) |
|
|
Headache [MESH:D006261] (1416) |
|
|
Neuralgia [MESH:D009437] (2074) |
|
|
Quadriplegia [MESH:D011782] (115) |
|
|
Alternating hemiplegia of childhood [MESH:C536589] (70) |
|
|
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) |
|
|
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis [MESH:C564593] (8) |
|
|
Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83) |
|
|
Phosphoserine Aminotransferase Deficiency [MESH:C567032] (85) |
|
|
|
|
|
|
|
|
Lacrimoauriculodentodigital syndrome [MESH:C538132] (149) |
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e [MESH:C566136] (76) |
|
|
Arts syndrome [MESH:C535388] (31) |
|
|
Chudley-Mccullough syndrome [MESH:C535459] (45) |
|
|
Donnai-Barrow syndrome [MESH:C536390] (40) |
|
|
Pendred syndrome [MESH:C536648] (35) |
|
|
Barakat syndrome [MESH:C537907] (71) |
|
|
Deafness, Autosomal Recessive 12 [MESH:C563327] (46) |
|
|
Deafness, X-Linked 1 [MESH:C564433] (31) |
|
|
Deafness, Autosomal Dominant 20 [MESH:C565754] (69) |
|
|
Hearing Loss, Noise-Induced [MESH:D006317] (134) |
|
|
Optic atrophy polyneuropathy deafness [MESH:C537129] (31) |
|
|
Hyperalgesia [MESH:D006930] (3929) |
|
|
Paresthesia [MESH:D010292] (416) |
|
|
|
|
|
|
|
|
Arts syndrome [MESH:C535388] (31) |
|
|
|
|
|
Lethal Arthrogryposis With Anterior Horn Cell Disease [MESH:C567502] (14) |
|
|
Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559) |
|
|
Amyotrophic Lateral Sclerosis, Sporadic [MESH:C566291] (239) |
|
|
Amyotrophic Lateral Sclerosis 10 [MESH:C567429] (36) |
|
|
|
|
|
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 [MESH:C567023] (12) |
|
|
|
|
|
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 [MESH:C567023] (12) |
|
|
|
|
|
Optic atrophy polyneuropathy deafness [MESH:C537129] (31) |
|
|
Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854) |
|
|
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia [MESH:C563476] (57) |
|
|
|
|
|
MELAS Syndrome [MESH:D017241] (1061) |
|
|
MERRF Syndrome [MESH:D017243] (1053) |
|
|
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 [MESH:C563750] (56) |
|
|
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis [MESH:C564593] (8) |
|
|
Kearns-Sayre Syndrome [MESH:D007625] (1054) |
|
|
Dermatomyositis [MESH:D003882] (1826) |
|
|
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia [MESH:C563476] (57) |
|
|
Dermatomyositis [MESH:D003882] (1826) |
|
|
Paramyotonia congenita of Von Eulenburg [MESH:C538616] (22) |
|
|
Potassium aggravated myotonia [MESH:C538353] (22) |
|
|
Paralysis, Hyperkalemic Periodic [MESH:D020513] (42) |
|
|
Hypokalemic Periodic Paralysis, Type 2 [MESH:C567635] (22) |
|
|
Optic atrophy polyneuropathy deafness [MESH:C537129] (31) |
|
|
|
|
|
Myopathy, Congenital, Compton-North [MESH:C567261] (35) |
|
|
Diabetic Neuropathies [MESH:D003929] (2442) |
|
|
Neuralgia [MESH:D009437] (2078) |
|
|
Sciatic Neuropathy [MESH:D020426] (477) |
|
|
Optic atrophy polyneuropathy deafness [MESH:C537129] (31) |
|
|
Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172) |
|
|
Tangier Disease [MESH:D013631] (170) |
|
|
Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive [MESH:C564948] (44) |
|
|
Charcot-Marie-Tooth disease, Type 4E [MESH:C535301] (121) |
|
|
Charcot-Marie-Tooth disease, Type 4C [MESH:C535423] (7) |
|
|
Charcot-Marie-Tooth disease, Type 1D [MESH:C537985] (108) |
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e [MESH:C566136] (76) |
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2n [MESH:C567653] (33) |
|
|
Spastic paraplegia 10, autosomal dominant [MESH:C537482] (20) |
|
|
Spastic paraplegia 13, autosomal dominant [MESH:C537485] (178) |
|
|
Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172) |
|
|
Dyskinesia, Drug-Induced [MESH:D004409] (1389) |
|
|
Arsenic Poisoning [MESH:D020261] (2540) |
|
|
Manganese Poisoning [MESH:D020149] (2214) |
|
|
|
|
|
|
|
|
Restless Legs Syndrome [MESH:D012148] (379) |
|
|
Restless Legs Syndrome [MESH:D012148] (379) |
|
|
Spinal Cord Injuries [MESH:D013119] (1676) |
|
|
Brain Injuries [MESH:D001930] (3431) |
|
|
|
|
|
Hematoma, Subdural, Acute [MESH:D020199] (63) |
|
 |
C11. Eye Diseases |
 |
 |
|
C11. Eye Diseases |
|
|
|
|
|
Laryngo onycho cutaneous syndrome [MESH:C537032] (49) |
|
|
Corneal Neovascularization [MESH:D016510] (622) |
|
|
Oculopalatoskeletal syndrome [MESH:C537738] (45) |
|
|
Coloboma [MESH:D003103] (315) |
|
|
Ectopia Lentis [MESH:D004479] (73) |
|
|
Basal Laminar Drusen [MESH:C563034] (52) |
|
|
Prolonged Electroretinal Response Suppression [MESH:C564243] (24) |
|
|
Weill-Marchesani Syndrome [MESH:D056846] (65) |
|
|
Optic atrophy polyneuropathy deafness [MESH:C537129] (31) |
|
|
Optic Atrophy, Hereditary, Leber [MESH:D029242] (1100) |
|
|
Senior-Loken syndrome 4 [MESH:C537581] (17) |
|
|
Retinitis Pigmentosa 11 [MESH:C563991] (13) |
|
|
Retinitis Pigmentosa 13 [MESH:C564008] (30) |
|
|
|
|
|
Brain Small Vessel Disease with Hemorrhage [MESH:C564372] (77) |
|
|
|
|
|
Schopf-Schulz-Passarge Syndrome [MESH:C565607] (21) |
|
|
|
|
|
Carnevale syndrome [MESH:C535586] (45) |
|
|
Schopf-Schulz-Passarge Syndrome [MESH:C565607] (21) |
|
|
Lacrimoauriculodentodigital syndrome [MESH:C538132] (149) |
|
|
Aplasia of Lacrimal and Salivary Glands [MESH:C562407] (42) |
|
|
|
|
|
Cataract, Autosomal Dominant [MESH:C565815] (58) |
|
|
Cataract, Autosomal Dominant, Multiple Types 1 [MESH:C566909] (7) |
|
|
Cataract, Juvenile, With Microcornea And Glucosuria [MESH:C567434] (26) |
|
|
Ectopia Lentis [MESH:D004479] (73) |
|
|
|
|
|
Glaucoma 3, Primary Congenital, D [MESH:C567765] (31) |
|
|
Glaucoma, Open-Angle [MESH:D005902] (1281) |
|
|
|
|
|
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) |
|
|
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis [MESH:C564593] (8) |
|
|
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 [MESH:C563750] (56) |
|
|
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis [MESH:C564593] (8) |
|
|
Kearns-Sayre Syndrome [MESH:D007625] (1054) |
|
|
Carnevale syndrome [MESH:C535586] (45) |
|
|
|
|
|
|
|
|
Optic atrophy polyneuropathy deafness [MESH:C537129] (31) |
|
|
Optic Atrophy, Hereditary, Leber [MESH:D029242] (1100) |
|
|
|
|
|
Graves Disease [MESH:D006111] (278) |
|
|
|
|
|
MASS syndrome [MESH:C536030] (62) |
|
|
Donnai-Barrow syndrome [MESH:C536390] (40) |
|
|
Vasculopathy, Retinal, With Cerebral Leukodystrophy [MESH:C566007] (37) |
|
|
Diabetic Retinopathy [MESH:D003930] (1371) |
|
|
Retinal Vein Occlusion [MESH:D012170] (607) |
|
|
|
|
|
Ectodermal dysplasia, ectrodactyly, and macular dystrophy [MESH:C536190] (34) |
|
|
Juvenile macular degeneration and hypotrichosis [MESH:C537698] (34) |
|
|
Macular Degeneration, Age-Related, 4 [MESH:C565196] (67) |
|
|
Macular Degeneration, Age-Related, 1 [MESH:C566411] (276) |
|
|
Macular Degeneration, Age-Related, 9 [MESH:C566958] (149) |
|
|
Macular Edema [MESH:D008269] (557) |
|
|
Basal Laminar Drusen [MESH:C563034] (52) |
|
|
|
|
|
Senior-Loken syndrome 4 [MESH:C537581] (17) |
|
|
Retinitis Pigmentosa 11 [MESH:C563991] (13) |
|
|
Retinitis Pigmentosa 13 [MESH:C564008] (30) |
|
|
Kearns-Sayre Syndrome [MESH:D007625] (1054) |
|
|
Knobloch syndrome [MESH:C537209] (70) |
|
|
Brain Small Vessel Disease with Hemorrhage [MESH:C564372] (77) |
|
|
Exudative vitreoretinopathy 1 [MESH:C536382] (34) |
|
|
|
|
|
Choroidal Neovascularization [MESH:D020256] (550) |
|
|
Exfoliation Syndrome [MESH:D017889] (48) |
|
|
|
|
|
|
|
|
Behcet Syndrome [MESH:D001528] (1784) |
|
|
|
|
|
|
|
|
Arts syndrome [MESH:C535388] (31) |
|
|
Exudative vitreoretinopathy 1 [MESH:C536382] (34) |
|
 |
C12. Male Urogenital Diseases |
 |
 |
|
C12. Male Urogenital Diseases |
|
|
|
|
|
Hennekam lymphangiectasia lymphedema syndrome [MESH:C537255] (14) |
|
|
|
|
|
Prostate cancer, familial [MESH:C537243] (264) |
|
|
Testicular Germ Cell Tumor [MESH:C563236] (176) |
|
|
|
|
|
Oligospermia [MESH:D009845] (799) |
|
|
Prostatic Hyperplasia [MESH:D011470] (336) |
|
|
Prostatitis [MESH:D011472] (424) |
|
|
Prostate cancer, familial [MESH:C537243] (264) |
|
|
Erectile Dysfunction [MESH:D007172] (1791) |
|
|
|
|
|
Chlamydia Infections [MESH:D002690] (1693) |
|
|
|
|
|
Carnevale syndrome [MESH:C535586] (45) |
|
|
|
|
|
Carnevale syndrome [MESH:C535586] (45) |
|
|
|
|
|
Adrenal Hyperplasia, Congenital [MESH:D000312] (674) |
|
|
|
|
|
|
|
|
Prostate cancer, familial [MESH:C537243] (264) |
|
|
Testicular Germ Cell Tumor [MESH:C563236] (176) |
|
|
Urinary Bladder Neoplasms [MESH:D001749] (4079) |
|
|
Carcinoma, Renal Cell [MESH:D002292] (2975) |
|
|
Wilms Tumor [MESH:D009396] (553) |
|
|
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities [MESH:C567716] (33) |
|
|
Urolithiasis [MESH:D052878] (585) |
|
|
Complement Factor H Deficiency [MESH:C562875] (52) |
|
|
Lipoprotein Glomerulopathy [MESH:C567089] (165) |
|
|
Diabetic Nephropathies [MESH:D003928] (2301) |
|
|
Hyperoxaluria [MESH:D006959] (1498) |
|
|
Hypertension, Renovascular [MESH:D006978] (365) |
|
|
Senior-Loken syndrome 4 [MESH:C537581] (17) |
|
|
Nephronophthisis 4 [MESH:C564640] (17) |
|
|
Nephronophthisis 3 [MESH:C565780] (11) |
|
|
Polycystic Kidney, Autosomal Dominant [MESH:D016891] (522) |
|
|
Polycystic Kidney, Autosomal Recessive [MESH:D017044] (462) |
|
|
Carcinoma, Renal Cell [MESH:D002292] (2975) |
|
|
Wilms Tumor [MESH:D009396] (553) |
|
|
Nephritis, Interstitial [MESH:D009395] (1927) |
|
|
Glomerulonephritis, IGA [MESH:D005922] (897) |
|
|
Glomerulonephritis, Membranoproliferative [MESH:D015432] (770) |
|
|
Glomerulosclerosis, Focal Segmental [MESH:D005923] (1754) |
|
|
Hypomagnesemia primary [MESH:C537153] (35) |
|
|
Barakat syndrome [MESH:C537907] (71) |
|
|
Nephrosis, Lipoid [MESH:D009402] (74) |
|
|
Nephrosis, congenital [MESH:C535761] (52) |
|
|
|
|
|
Kidney Tubular Necrosis, Acute [MESH:D007683] (974) |
|
|
Kidney Failure, Chronic [MESH:D007676] (2930) |
|
|
Iminoglycinuria [MESH:C536285] (38) |
|
|
Donnai-Barrow syndrome [MESH:C536390] (40) |
|
|
Hypomagnesemia 2, renal [MESH:C537152] (38) |
|
|
Hypomagnesemia primary [MESH:C537153] (35) |
|
|
Hypomagnesemia 1, Intestinal [MESH:C566593] (19) |
|
|
Cataract, Juvenile, With Microcornea And Glucosuria [MESH:C567434] (26) |
|
|
|
|
|
Vitamin D-Dependent Rickets, Type 2A [MESH:C562794] (137) |
|
|
Hypophosphatemic Rickets, Autosomal Recessive, 2 [MESH:C567647] (48) |
|
|
|
|
|
Atypical hemolytic uremic syndrome [MESH:C538266] (277) |
|
|
Urinary Bladder Neoplasms [MESH:D001749] (4079) |
|
|
Vesico-Ureteral Reflux [MESH:D014718] (58) |
|
|
Cystitis, Interstitial [MESH:D018856] (264) |
|
|
Hematuria [MESH:D006417] (477) |
|
|
|
|
|
Cataract, Juvenile, With Microcornea And Glucosuria [MESH:C567434] (26) |
|
|
Donnai-Barrow syndrome [MESH:C536390] (40) |
|
|
Albuminuria [MESH:D000419] (2394) |
|
 |
C13. Female Urogenital Diseases and Pregnancy Complications |
 |
 |
|
C13. Female Urogenital Diseases and Pregnancy Complications |
|
|
Not Fully Specified [NFS] (1116) |
|
|
|
|
|
Endometriosis [MESH:D004715] (2461) |
|
|
|
|
|
|
|
|
Polycystic Ovary Syndrome [MESH:D011085] (2186) |
|
|
Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143) |
|
|
Infertility, Female [MESH:D007247] (2184) |
|
|
|
|
|
Chlamydia Infections [MESH:D002690] (1693) |
|
|
Endometrial Hyperplasia [MESH:D004714] (263) |
|
|
Uterine Cervical Neoplasms [MESH:D002583] (978) |
|
|
Endometrial Neoplasms [MESH:D016889] (1984) |
|
|
Uterine Cervical Neoplasms [MESH:D002583] (978) |
|
|
Vaginal Neoplasms [MESH:D014625] (363) |
|
|
|
|
|
|
|
|
Adrenal Hyperplasia, Congenital [MESH:D000312] (674) |
|
|
|
|
|
Vaginal Neoplasms [MESH:D014625] (363) |
|
|
Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143) |
|
|
Endometrial Neoplasms [MESH:D016889] (1989) |
|
|
Uterine Cervical Neoplasms [MESH:D002583] (978) |
|
|
Urinary Bladder Neoplasms [MESH:D001749] (4079) |
|
|
Carcinoma, Renal Cell [MESH:D002292] (2975) |
|
|
Wilms Tumor [MESH:D009396] (553) |
|
|
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities [MESH:C567716] (33) |
|
|
Urolithiasis [MESH:D052878] (585) |
|
|
Complement Factor H Deficiency [MESH:C562875] (52) |
|
|
Lipoprotein Glomerulopathy [MESH:C567089] (165) |
|
|
Diabetic Nephropathies [MESH:D003928] (2301) |
|
|
Hyperoxaluria [MESH:D006959] (1498) |
|
|
Hypertension, Renovascular [MESH:D006978] (365) |
|
|
Senior-Loken syndrome 4 [MESH:C537581] (17) |
|
|
Nephronophthisis 4 [MESH:C564640] (17) |
|
|
Nephronophthisis 3 [MESH:C565780] (11) |
|
|
Polycystic Kidney, Autosomal Dominant [MESH:D016891] (522) |
|
|
Polycystic Kidney, Autosomal Recessive [MESH:D017044] (462) |
|
|
Carcinoma, Renal Cell [MESH:D002292] (2975) |
|
|
Wilms Tumor [MESH:D009396] (553) |
|
|
Nephritis, Interstitial [MESH:D009395] (1927) |
|
|
Glomerulonephritis, IGA [MESH:D005922] (897) |
|
|
Glomerulonephritis, Membranoproliferative [MESH:D015432] (770) |
|
|
Glomerulosclerosis, Focal Segmental [MESH:D005923] (1754) |
|
|
Hypomagnesemia primary [MESH:C537153] (35) |
|
|
Barakat syndrome [MESH:C537907] (71) |
|
|
Nephrosis, Lipoid [MESH:D009402] (74) |
|
|
Nephrosis, congenital [MESH:C535761] (52) |
|
|
|
|
|
Kidney Tubular Necrosis, Acute [MESH:D007683] (974) |
|
|
Kidney Failure, Chronic [MESH:D007676] (2930) |
|
|
Iminoglycinuria [MESH:C536285] (38) |
|
|
Donnai-Barrow syndrome [MESH:C536390] (40) |
|
|
Hypomagnesemia 2, renal [MESH:C537152] (38) |
|
|
Hypomagnesemia primary [MESH:C537153] (35) |
|
|
Hypomagnesemia 1, Intestinal [MESH:C566593] (19) |
|
|
Cataract, Juvenile, With Microcornea And Glucosuria [MESH:C567434] (26) |
|
|
|
|
|
Vitamin D-Dependent Rickets, Type 2A [MESH:C562794] (137) |
|
|
Hypophosphatemic Rickets, Autosomal Recessive, 2 [MESH:C567647] (48) |
|
|
|
|
|
Atypical hemolytic uremic syndrome [MESH:C538266] (277) |
|
|
Urinary Bladder Neoplasms [MESH:D001749] (4079) |
|
|
Vesico-Ureteral Reflux [MESH:D014718] (58) |
|
|
Cystitis, Interstitial [MESH:D018856] (264) |
|
|
Hematuria [MESH:D006417] (477) |
|
|
|
|
|
Cataract, Juvenile, With Microcornea And Glucosuria [MESH:C567434] (26) |
|
|
Donnai-Barrow syndrome [MESH:C536390] (40) |
|
|
Albuminuria [MESH:D000419] (2394) |
|
|
Abortion, Spontaneous [MESH:D000022] (2780) |
|
|
Diabetes, Gestational [MESH:D016640] (1157) |
|
|
Polyhydramnios [MESH:D006831] (123) |
|
|
Pregnancy Complications, Cardiovascular [MESH:D011249] (1994) |
|
|
Prenatal Injuries [MESH:D049188] (1314) |
|
|
Fetal Growth Retardation [MESH:D005317] (986) |
|
|
Hydrops Fetalis [MESH:D015160] (23) |
|
|
Pre-Eclampsia [MESH:D011225] (1435) |
|
|
Abruptio Placentae [MESH:D000037] (430) |
|
|
Obstetric Labor, Premature [MESH:D007752] (1316) |
|
|
Abruptio Placentae [MESH:D000037] (430) |
|
 |
C14. Cardiovascular Diseases |
 |
 |
|
C14. Cardiovascular Diseases |
|
|
Not Fully Specified [NFS] (2667) |
|
|
Pregnancy Complications, Cardiovascular [MESH:D011249] (1994) |
|
|
|
|
|
Malpuech facial clefting syndrome [MESH:C535704] (45) |
|
|
Short QT Syndrome 2 [MESH:C566505] (45) |
|
|
Tetralogy of Fallot [MESH:D013771] (121) |
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Naxos disease [MESH:C538346] (51) |
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 [MESH:C566925] (51) |
|
|
|
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
Shprintzen Golberg craniosynostosis [MESH:C537328] (76) |
|
|
Double Outlet Right Ventricle [MESH:D004310] (25) |
|
|
|
|
|
Intracranial Arteriovenous Malformations [MESH:D002538] (1015) |
|
|
Intracranial Arteriovenous Malformations [MESH:D002538] (1015) |
|
|
Heart Arrest [MESH:D006323] (1926) |
|
|
Heart Failure [MESH:D006333] (4058) |
|
|
Short QT Syndrome 2 [MESH:C566505] (45) |
|
|
Bradycardia [MESH:D001919] (1899) |
|
|
Atrial Fibrillation, Familial, 3 [MESH:C563817] (60) |
|
|
Brugada Syndrome 7 [MESH:C567734] (31) |
|
|
Ventricular Premature Complexes [MESH:D018879] (418) |
|
|
Jervell-Lange Nielsen Syndrome [MESH:D029593] (64) |
|
|
Romano-Ward Syndrome [MESH:D029597] (47) |
|
|
Tachycardia, Ventricular [MESH:D017180] (1386) |
|
|
Cantu syndrome [MESH:C535572] (42) |
|
|
Hypertrophy, Left Ventricular [MESH:D017379] (1430) |
|
|
Hypertrophy, Right Ventricular [MESH:D017380] (136) |
|
|
Cardiomyopathy, Dilated, 1o [MESH:C563906] (42) |
|
|
Cardiomyopathy, Dilated, 1t [MESH:C566052] (76) |
|
|
Cardiomyopathy, Dilated, 1CC [MESH:C567733] (37) |
|
|
Diabetic Cardiomyopathies [MESH:D058065] (1995) |
|
|
Kearns-Sayre Syndrome [MESH:D007625] (1054) |
|
|
Myocardial Reperfusion Injury [MESH:D015428] (3500) |
|
|
Myocarditis [MESH:D009205] (1708) |
|
|
Naxos disease [MESH:C538346] (51) |
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 [MESH:C566925] (51) |
|
|
Cardiomyopathy, Dilated, 1o [MESH:C563906] (42) |
|
|
Cardiomyopathy, Dilated, 1t [MESH:C566052] (76) |
|
|
Cardiomyopathy, Dilated, 1CC [MESH:C567733] (37) |
|
|
|
|
|
Cardiomyopathy, Familial Hypertrophic, 1 [MESH:C566005] (190) |
|
|
Malpuech facial clefting syndrome [MESH:C535704] (45) |
|
|
Short QT Syndrome 2 [MESH:C566505] (45) |
|
|
Tetralogy of Fallot [MESH:D013771] (121) |
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Naxos disease [MESH:C538346] (51) |
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 [MESH:C566925] (51) |
|
|
|
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
Shprintzen Golberg craniosynostosis [MESH:C537328] (76) |
|
|
Double Outlet Right Ventricle [MESH:D004310] (25) |
|
|
Aortic Valve Insufficiency [MESH:D001022] (1002) |
|
|
|
|
|
Cardiomyopathy, Hypertrophic [MESH:D002312] (1451) |
|
|
Williams Syndrome [MESH:D018980] (133) |
|
|
|
|
|
MASS syndrome [MESH:C536030] (62) |
|
|
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 Artery Disease [MESH:D003324] (2685) |
|
|
Coronary Vasospasm [MESH:D003329] (533) |
|
|
Coronary Restenosis [MESH:D023903] (1683) |
|
|
Myocardial Stunning [MESH:D017682] (1816) |
|
|
Ventricular Dysfunction, Left [MESH:D018487] (1631) |
|
|
Vasculopathy, Retinal, With Cerebral Leukodystrophy [MESH:C566007] (37) |
|
|
Hyperemia [MESH:D006940] (2372) |
|
|
Hypotension [MESH:D007022] (4045) |
|
|
Retinal Vein Occlusion [MESH:D012170] (607) |
|
|
Varicose Veins [MESH:D014648] (383) |
|
|
Vascular System Injuries [MESH:D057772] (2086) |
|
|
Aneurysm, Dissecting [MESH:D000784] (699) |
|
|
Aortic Rupture [MESH:D001019] (637) |
|
|
Aortic Aneurysm, Thoracic [MESH:D017545] (781) |
|
|
Aortic Rupture [MESH:D001019] (637) |
|
|
|
|
|
Aortic Aneurysm, Thoracic [MESH:D017545] (781) |
|
|
Aortic Rupture [MESH:D001019] (637) |
|
|
Carotid Stenosis [MESH:D016893] (174) |
|
|
Mesenteric Vascular Occlusion [MESH:D008641] (147) |
|
|
Atherosclerosis [MESH:D050197] (4188) |
|
|
Coronary Artery Disease [MESH:D003324] (2685) |
|
|
Intracranial Arteriovenous Malformations [MESH:D002538] (1015) |
|
|
Vasospasm, Intracranial [MESH:D020301] (324) |
|
|
Ischemic Attack, Transient [MESH:D002546] (1313) |
|
|
|
|
|
Infarction, Middle Cerebral Artery [MESH:D020244] (2268) |
|
|
Carotid Artery Thrombosis [MESH:D002341] (138) |
|
|
Carotid Stenosis [MESH:D016893] (174) |
|
|
MELAS Syndrome [MESH:D017241] (1061) |
|
|
Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333) |
|
|
Intracranial Arteriovenous Malformations [MESH:D002538] (1015) |
|
|
Infarction, Middle Cerebral Artery [MESH:D020244] (2268) |
|
|
|
|
|
Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333) |
|
|
Carotid Artery Thrombosis [MESH:D002341] (138) |
|
|
Sinus Thrombosis, Intracranial [MESH:D012851] (356) |
|
|
|
|
|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type [MESH:C537944] (333) |
|
|
|
|
|
Hematoma, Subdural, Acute [MESH:D020199] (63) |
|
|
|
|
|
|
|
|
Infarction, Middle Cerebral Artery [MESH:D020244] (2268) |
|
|
Diabetic Retinopathy [MESH:D003930] (1371) |
|
|
|
|
|
Venous Thromboembolism [MESH:D054556] (400) |
|
|
Carotid Artery Thrombosis [MESH:D002341] (138) |
|
|
Sinus Thrombosis, Intracranial [MESH:D012851] (356) |
|
|
Heparin Cofactor II Deficiency [MESH:C562865] (45) |
|
|
Venous Thromboembolism [MESH:D054556] (400) |
|
|
Carotid Artery Thrombosis [MESH:D002341] (138) |
|
|
Sinus Thrombosis, Intracranial [MESH:D012851] (356) |
|
|
Retinal Vein Occlusion [MESH:D012170] (607) |
|
|
Multiple Myeloma [MESH:D009101] (2765) |
|
|
Ehlers-Danlos syndrome caused by tenascin-X deficiency [MESH:C536193] (20) |
|
|
Ehlers-Danlos syndrome type 1 [MESH:C536194] (344) |
|
|
Ehlers-Danlos syndrome type 3 [MESH:C536196] (142) |
|
|
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant [MESH:C562625] (375) |
|
|
Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive [MESH:C567527] (26) |
|
|
Hypertension, Essential [MESH:C562386] (1308) |
|
|
Hypertension, Pregnancy-Induced [MESH:D046110] (397) |
|
|
Hypertension, Renovascular [MESH:D006978] (365) |
|
|
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 Artery Disease [MESH:D003324] (2685) |
|
|
Coronary Vasospasm [MESH:D003329] (533) |
|
|
Coronary Restenosis [MESH:D023903] (1683) |
|
|
Myocardial Stunning [MESH:D017682] (1816) |
|
|
No-Reflow Phenomenon [MESH:D054318] (277) |
|
|
|
|
|
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps [MESH:C567088] (77) |
|
|
Myocardial Reperfusion Injury [MESH:D015428] (3500) |
|
|
Behcet Syndrome [MESH:D001528] (1784) |
|
|
Mucocutaneous Lymph Node Syndrome [MESH:D009080] (158) |
|
|
Purpura, Schoenlein-Henoch [MESH:D011695] (266) |
|
 |
C15. Hemic and Lymphatic Diseases |
 |
 |
|
C15. Hemic and Lymphatic Diseases |
|
|
Not Fully Specified [NFS] (453) |
|
|
Pancytopenia [MESH:D010198] (332) |
|
|
|
|
|
|
|
|
|
|
|
Anemia, Diamond-Blackfan, 3 [MESH:C536355] (35) |
|
|
Fanconi Anemia, Complementation Group N [MESH:C563657] (9) |
|
|
Fanconi Anemia, Complementation Group J [MESH:C563801] (23) |
|
|
Fanconi Anemia, Complementation Group I [MESH:C563802] (34) |
|
|
Fanconi Anemia, Complementation Group D1 [MESH:C563980] (68) |
|
|
|
|
|
Anemia, Hemolytic, Congenital Nonspherocytic [MESH:D000746] (308) |
|
|
Anemia, Sickle Cell [MESH:D000755] (1722) |
|
|
Spherocytosis, Hereditary [MESH:D013103] (137) |
|
|
beta-Thalassemia [MESH:D017086] (458) |
|
|
Atypical hemolytic uremic syndrome [MESH:C538266] (277) |
|
|
Anemia, Iron-Deficiency [MESH:D018798] (547) |
|
|
5q- syndrome [MESH:C535323] (131) |
|
|
Anemia, Megaloblastic [MESH:D000749] (288) |
|
|
Ghosal Hematodiaphyseal Dysplasia [MESH:C565551] (58) |
|
|
Anemia, sideroblastic spinocerebellar ataxia [MESH:C536358] (15) |
|
|
|
|
|
Anemia, Diamond-Blackfan, 3 [MESH:C536355] (35) |
|
|
Disseminated Intravascular Coagulation [MESH:D004211] (462) |
|
|
Activated Protein C Resistance [MESH:D020016] (140) |
|
|
Factor VII Deficiency [MESH:D005168] (61) |
|
|
Factor X Deficiency [MESH:D005171] (74) |
|
|
Hypoprothrombinemias [MESH:D007020] (157) |
|
|
Factor 8 deficiency, acquired [MESH:C536392] (42) |
|
|
Activated Protein C Resistance [MESH:D020016] (140) |
|
|
Factor VII Deficiency [MESH:D005168] (61) |
|
|
Factor X Deficiency [MESH:D005171] (74) |
|
|
Hypoprothrombinemias [MESH:D007020] (157) |
|
|
Factor 8 deficiency, acquired [MESH:C536392] (42) |
|
|
Purpura, Schoenlein-Henoch [MESH:D011695] (266) |
|
|
Purpura, Thrombotic Thrombocytopenic [MESH:D011697] (222) |
|
|
|
|
|
Hydrops Fetalis [MESH:D015160] (23) |
|
|
Platelet Glycoprotein IV Deficiency [MESH:C564245] (173) |
|
|
|
|
|
|
|
|
Atypical hemolytic uremic syndrome [MESH:C538266] (277) |
|
|
Purpura, Thrombotic Thrombocytopenic [MESH:D011697] (222) |
|
|
|
|
|
Severe combined immunodeficiency due to adenosine deaminase deficiency [MESH:C531816] (67) |
|
|
Mevalonate Kinase Deficiency [MESH:D054078] (38) |
|
|
Hypoalbuminemia [MESH:D034141] (1332) |
|
|
Multiple Myeloma [MESH:D009101] (2765) |
|
|
|
|
|
|
|
|
|
|
|
Anemia, Diamond-Blackfan, 3 [MESH:C536355] (35) |
|
|
Fanconi Anemia, Complementation Group N [MESH:C563657] (9) |
|
|
Fanconi Anemia, Complementation Group J [MESH:C563801] (23) |
|
|
Fanconi Anemia, Complementation Group I [MESH:C563802] (34) |
|
|
Fanconi Anemia, Complementation Group D1 [MESH:C563980] (68) |
|
|
Leukemia, Myelomonocytic, Juvenile [MESH:D054429] (344) |
|
|
|
|
|
Ghosal Hematodiaphyseal Dysplasia [MESH:C565551] (58) |
|
|
Anemia, sideroblastic spinocerebellar ataxia [MESH:C536358] (15) |
|
|
Myeloproliferative Disorder, Chronic, with Eosinophilia [MESH:C565054] (134) |
|
|
Leukemia, Erythroblastic, Acute [MESH:D004915] (89) |
|
|
Leukemia, Myelogenous, Chronic, BCR-ABL Positive [MESH:D015464] (1032) |
|
|
Primary Myelofibrosis [MESH:D055728] (165) |
|
|
Anemia, Sickle Cell [MESH:D000755] (1722) |
|
|
beta-Thalassemia [MESH:D017086] (458) |
|
|
Hydrops Fetalis [MESH:D015160] (23) |
|
|
Plasminogen Activator Inhibitor-1 Deficiency [MESH:C567640] (328) |
|
|
Disseminated Intravascular Coagulation [MESH:D004211] (462) |
|
|
Factor VII Deficiency [MESH:D005168] (61) |
|
|
Factor X Deficiency [MESH:D005171] (74) |
|
|
Hypoprothrombinemias [MESH:D007020] (157) |
|
|
Factor 8 deficiency, acquired [MESH:C536392] (42) |
|
|
Multiple Myeloma [MESH:D009101] (2765) |
|
|
Purpura, Schoenlein-Henoch [MESH:D011695] (266) |
|
|
Ehlers-Danlos syndrome caused by tenascin-X deficiency [MESH:C536193] (20) |
|
|
Ehlers-Danlos syndrome type 1 [MESH:C536194] (344) |
|
|
Ehlers-Danlos syndrome type 3 [MESH:C536196] (142) |
|
|
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant [MESH:C562625] (375) |
|
|
Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive [MESH:C567527] (26) |
|
|
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78) |
|
|
Leukocytosis [MESH:D007964] (988) |
|
|
Myeloproliferative Disorder, Chronic, with Eosinophilia [MESH:C565054] (134) |
|
|
Reticular dysgenesis [MESH:C538361] (49) |
|
|
Lymphopenia [MESH:D008231] (990) |
|
|
Neutropenia [MESH:D009503] (1629) |
|
|
Job Syndrome [MESH:D007589] (772) |
|
|
Polycythemia, primary familial and congenital [MESH:C536842] (45) |
|
|
Activated Protein C Resistance [MESH:D020016] (140) |
|
|
Disseminated Intravascular Coagulation [MESH:D004211] (462) |
|
|
Purpura, Thrombotic Thrombocytopenic [MESH:D011697] (222) |
|
|
Mucocutaneous Lymph Node Syndrome [MESH:D009080] (158) |
|
|
|
|
|
Sea-Blue Histiocyte Syndrome [MESH:D012618] (165) |
|
|
|
|
|
Niemann-Pick disease, type C2 [MESH:C536119] (43) |
|
|
|
|
|
Hennekam lymphangiectasia lymphedema syndrome [MESH:C537255] (14) |
|
|
|
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Hennekam lymphangiectasia lymphedema syndrome [MESH:C537255] (14) |
|
|
Hennekam lymphangiectasia lymphedema syndrome [MESH:C537255] (14) |
|
|
Giant Lymph Node Hyperplasia [MESH:D005871] (1013) |
|
|
Severe combined immunodeficiency due to adenosine deaminase deficiency [MESH:C531816] (67) |
|
|
|
|
|
Leukemia, Lymphocytic, Chronic, B-Cell [MESH:D015451] (2562) |
|
|
Leukemia-Lymphoma, Adult T-Cell [MESH:D015459] (138) |
|
|
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D015452] (354) |
|
|
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054218] (510) |
|
|
Lymphangioleiomyomatosis [MESH:D018192] (162) |
|
|
Hodgkin Disease [MESH:D006689] (1082) |
|
|
Burkitt Lymphoma [MESH:D002051] (691) |
|
|
Lymphoma, Follicular [MESH:D008224] (1025) |
|
|
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) |
|
 |
C16. Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
 |
 |
|
C16. Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
|
|
|
|
|
Situs Inversus [MESH:D012857] (88) |
|
|
Malpuech facial clefting syndrome [MESH:C535704] (45) |
|
|
Weyers acrofacial dysostosis [MESH:C536695] (11) |
|
|
Renal hepatic pancreatic dysplasia Dandy Walker cyst [MESH:C537756] (11) |
|
|
Lacrimoauriculodentodigital syndrome [MESH:C538132] (149) |
|
|
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects [MESH:C562515] (45) |
|
|
Desmosterolosis [MESH:C566555] (85) |
|
|
Beckwith-Wiedemann Syndrome [MESH:D001506] (193) |
|
|
Bloom Syndrome [MESH:D001816] (107) |
|
|
Down Syndrome [MESH:D004314] (1287) |
|
|
Holoprosencephaly [MESH:D016142] (218) |
|
|
Silver-Russell Syndrome [MESH:D056730] (142) |
|
|
Smith-Lemli-Opitz Syndrome [MESH:D019082] (100) |
|
|
Weill-Marchesani Syndrome [MESH:D056846] (65) |
|
|
Wolf-Hirschhorn Syndrome [MESH:D054877] (72) |
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Arts syndrome [MESH:C535388] (31) |
|
|
Ectodermal dysplasia, ectrodactyly, and macular dystrophy [MESH:C536190] (34) |
|
|
Odontoonychodermal dysplasia [MESH:C537742] (21) |
|
|
Ellis-Van Creveld Syndrome [MESH:D004613] (50) |
|
|
Focal Dermal Hypoplasia [MESH:D005489] (22) |
|
|
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome [MESH:C537943] (28) |
|
|
Shprintzen Golberg craniosynostosis [MESH:C537328] (76) |
|
|
|
|
|
Neural tube defect, folate-sensitive [MESH:C536409] (111) |
|
|
|
|
|
Malpuech facial clefting syndrome [MESH:C535704] (45) |
|
|
Short QT Syndrome 2 [MESH:C566505] (45) |
|
|
Tetralogy of Fallot [MESH:D013771] (121) |
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Naxos disease [MESH:C538346] (51) |
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 [MESH:C566925] (51) |
|
|
|
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
Jervell-Lange Nielsen Syndrome [MESH:D029593] (64) |
|
|
Romano-Ward Syndrome [MESH:D029597] (47) |
|
|
Shprintzen Golberg craniosynostosis [MESH:C537328] (76) |
|
|
Double Outlet Right Ventricle [MESH:D004310] (25) |
|
|
|
|
|
Intracranial Arteriovenous Malformations [MESH:D002538] (1015) |
|
|
Intracranial Arteriovenous Malformations [MESH:D002538] (1015) |
|
|
Mosaic variegated aneuploidy syndrome [MESH:C536987] (95) |
|
|
Mental Retardation, Fra12a Type [MESH:C566980] (15) |
|
|
Beckwith-Wiedemann Syndrome [MESH:D001506] (193) |
|
|
Down Syndrome [MESH:D004314] (1287) |
|
|
Holoprosencephaly [MESH:D016142] (218) |
|
|
Silver-Russell Syndrome [MESH:D056730] (142) |
|
|
Williams Syndrome [MESH:D018980] (133) |
|
|
Wolf-Hirschhorn Syndrome [MESH:D054877] (72) |
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Fragile X Syndrome [MESH:D005600] (353) |
|
|
Oculopalatoskeletal syndrome [MESH:C537738] (45) |
|
|
Coloboma [MESH:D003103] (315) |
|
|
Ectopia Lentis [MESH:D004479] (73) |
|
|
|
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Hennekam lymphangiectasia lymphedema syndrome [MESH:C537255] (14) |
|
|
|
|
|
Lethal congenital contracture syndrome 1 [MESH:C537194] (14) |
|
|
Lethal Arthrogryposis With Anterior Horn Cell Disease [MESH:C567502] (14) |
|
|
Roberts Syndrome [MESH:C535687] (32) |
|
|
Malpuech facial clefting syndrome [MESH:C535704] (45) |
|
|
Hennekam lymphangiectasia lymphedema syndrome [MESH:C537255] (14) |
|
|
Cleidocranial Dysplasia [MESH:D002973] (129) |
|
|
Holoprosencephaly [MESH:D016142] (218) |
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
|
|
|
Roberts Syndrome [MESH:C535687] (32) |
|
|
Craniosynostosis radial aplasia syndrome [MESH:C536788] (30) |
|
|
Shprintzen Golberg craniosynostosis [MESH:C537328] (76) |
|
|
Bohring syndrome [MESH:C537419] (26) |
|
|
Jackson-Weiss syndrome [MESH:C537559] (149) |
|
|
Oculopalatoskeletal syndrome [MESH:C537738] (45) |
|
|
Cutis Gyrata Syndrome of Beare And Stevenson [MESH:C565129] (85) |
|
|
Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (85) |
|
|
Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149) |
|
|
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis [MESH:C567770] (35) |
|
|
|
|
|
|
|
|
Orofacial Cleft 5 [MESH:C563843] (38) |
|
|
Orofacial Cleft 1 [MESH:C566121] (81) |
|
|
Meier-Gorlin syndrome [MESH:C538012] (133) |
|
|
Oculodigitoesophagoduodenal syndrome [MESH:C537734] (58) |
|
|
Amish lethal microcephaly [MESH:C538247] (29) |
|
|
Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83) |
|
|
Phosphoserine Aminotransferase Deficiency [MESH:C567032] (85) |
|
|
Plagiocephaly, Nonsynostotic [MESH:D049068] (85) |
|
|
Craniosynostosis radial aplasia syndrome [MESH:C536788] (30) |
|
|
Shprintzen Golberg craniosynostosis [MESH:C537328] (76) |
|
|
Bohring syndrome [MESH:C537419] (26) |
|
|
Jackson-Weiss syndrome [MESH:C537559] (149) |
|
|
Oculopalatoskeletal syndrome [MESH:C537738] (45) |
|
|
Cutis Gyrata Syndrome of Beare And Stevenson [MESH:C565129] (85) |
|
|
Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (85) |
|
|
Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149) |
|
|
Carnevale syndrome [MESH:C535586] (45) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
Weyers acrofacial dysostosis [MESH:C536695] (11) |
|
|
Oculodigitoesophagoduodenal syndrome [MESH:C537734] (58) |
|
|
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects [MESH:C562515] (45) |
|
|
Lower Extremity Deformities, Congenital [MESH:D038061] (81) |
|
|
Congenital contractural arachnodactyly [MESH:C536211] (47) |
|
|
Shprintzen Golberg craniosynostosis [MESH:C537328] (76) |
|
|
Roberts Syndrome [MESH:C535687] (32) |
|
|
Tetra-amelia autosomal recessive [MESH:C536498] (19) |
|
|
Vertical talus, congenital [MESH:C536345] (14) |
|
|
Jackson-Weiss syndrome [MESH:C537559] (149) |
|
|
Synpolydactyly 2 [MESH:C564278] (43) |
|
|
Ectodermal dysplasia, ectrodactyly, and macular dystrophy [MESH:C536190] (34) |
|
|
Synpolydactyly 2 [MESH:C564278] (43) |
|
|
Synpolydactyly 2 [MESH:C564278] (43) |
|
|
Lacrimoauriculodentodigital syndrome [MESH:C538132] (149) |
|
|
Syndactyly Cenani Lenz type [MESH:C538150] (26) |
|
|
Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149) |
|
|
Antley-Bixler Syndrome Phenotype [MESH:D054882] (284) |
|
|
Craniosynostosis radial aplasia syndrome [MESH:C536788] (30) |
|
|
Shprintzen Golberg craniosynostosis [MESH:C537328] (76) |
|
|
Bohring syndrome [MESH:C537419] (26) |
|
|
Jackson-Weiss syndrome [MESH:C537559] (149) |
|
|
Oculopalatoskeletal syndrome [MESH:C537738] (45) |
|
|
Cutis Gyrata Syndrome of Beare And Stevenson [MESH:C565129] (85) |
|
|
Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (85) |
|
|
Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149) |
|
|
Lacrimoauriculodentodigital syndrome [MESH:C538132] (149) |
|
|
Syndactyly Cenani Lenz type [MESH:C538150] (26) |
|
|
Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149) |
|
|
Aicardi-Goutieres syndrome [MESH:C535607] (57) |
|
|
Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172) |
|
|
Holoprosencephaly [MESH:D016142] (218) |
|
|
Chudley-Mccullough syndrome [MESH:C535459] (45) |
|
|
Donnai-Barrow syndrome [MESH:C536390] (40) |
|
|
Holoprosencephaly [MESH:D016142] (218) |
|
|
|
|
|
Chudley-Mccullough syndrome [MESH:C535459] (45) |
|
|
Intracranial Arteriovenous Malformations [MESH:D002538] (1015) |
|
|
Renal hepatic pancreatic dysplasia Dandy Walker cyst [MESH:C537756] (11) |
|
|
Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive [MESH:C564948] (44) |
|
|
Charcot-Marie-Tooth disease, Type 4E [MESH:C535301] (121) |
|
|
Charcot-Marie-Tooth disease, Type 4C [MESH:C535423] (7) |
|
|
Charcot-Marie-Tooth disease, Type 1D [MESH:C537985] (108) |
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e [MESH:C566136] (76) |
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2n [MESH:C567653] (33) |
|
|
Spastic paraplegia 10, autosomal dominant [MESH:C537482] (20) |
|
|
Spastic paraplegia 13, autosomal dominant [MESH:C537485] (178) |
|
|
Polymicrogyria, Bilateral Frontoparietal [MESH:C564652] (40) |
|
|
Polymicrogyria With Optic Nerve Hypoplasia [MESH:C567715] (29) |
|
|
Tuberous Sclerosis [MESH:D014402] (635) |
|
|
Norman Roberts lissencephaly syndrome [MESH:C537848] (58) |
|
|
Classical Lissencephalies and Subcortical Band Heterotopias [MESH:D054221] (114) |
|
|
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis [MESH:C567770] (35) |
|
|
Oculodigitoesophagoduodenal syndrome [MESH:C537734] (58) |
|
|
Amish lethal microcephaly [MESH:C538247] (29) |
|
|
Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83) |
|
|
Phosphoserine Aminotransferase Deficiency [MESH:C567032] (85) |
|
|
Classical Lissencephalies and Subcortical Band Heterotopias [MESH:D054221] (114) |
|
|
Spinal Dysraphism [MESH:D016135] (1025) |
|
|
Neural tube defect, folate-sensitive [MESH:C536409] (111) |
|
|
Knobloch syndrome [MESH:C537209] (70) |
|
|
Cutis Gyrata Syndrome of Beare And Stevenson [MESH:C565129] (85) |
|
|
Dyskeratosis Congenita [MESH:D019871] (185) |
|
|
Ectodermal dysplasia, ectrodactyly, and macular dystrophy [MESH:C536190] (34) |
|
|
Odontoonychodermal dysplasia [MESH:C537742] (21) |
|
|
Ellis-Van Creveld Syndrome [MESH:D004613] (50) |
|
|
Focal Dermal Hypoplasia [MESH:D005489] (22) |
|
|
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome [MESH:C537943] (28) |
|
|
Ehlers-Danlos syndrome caused by tenascin-X deficiency [MESH:C536193] (20) |
|
|
Ehlers-Danlos syndrome type 1 [MESH:C536194] (344) |
|
|
Ehlers-Danlos syndrome type 3 [MESH:C536196] (142) |
|
|
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant [MESH:C562625] (375) |
|
|
Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive [MESH:C567527] (26) |
|
|
|
|
|
Epidermolysis Bullosa, Junctional, Non-Herlitz Type [MESH:C562639] (150) |
|
|
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78) |
|
|
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects [MESH:C562515] (45) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
Xeroderma pigmentosum, variant type [MESH:C536766] (22) |
|
|
|
|
|
|
|
|
|
|
|
Orofacial Cleft 5 [MESH:C563843] (38) |
|
|
Orofacial Cleft 1 [MESH:C566121] (81) |
|
|
Meier-Gorlin syndrome [MESH:C538012] (133) |
|
|
Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (85) |
|
|
|
|
|
Orofacial Cleft 5 [MESH:C563843] (38) |
|
|
Orofacial Cleft 1 [MESH:C566121] (81) |
|
|
Orofacial Cleft 5 [MESH:C563843] (38) |
|
|
Orofacial Cleft 1 [MESH:C566121] (81) |
|
|
Weyers acrofacial dysostosis [MESH:C536695] (11) |
|
|
Lacrimoauriculodentodigital syndrome [MESH:C538132] (149) |
|
|
Witkop syndrome [MESH:C536736] (38) |
|
|
Schopf-Schulz-Passarge Syndrome [MESH:C565607] (21) |
|
|
Odontoonychodermal dysplasia [MESH:C537742] (21) |
|
|
|
|
|
Carnevale syndrome [MESH:C535586] (45) |
|
|
|
|
|
Adrenal Hyperplasia, Congenital [MESH:D000312] (674) |
|
|
Fetal Growth Retardation [MESH:D005317] (986) |
|
|
Hydrops Fetalis [MESH:D015160] (23) |
|
|
Platelet Glycoprotein IV Deficiency [MESH:C564245] (173) |
|
|
Complement Factor I Deficiency [MESH:C572568] (49) |
|
|
Adrenal Hyperplasia, Congenital [MESH:D000312] (674) |
|
|
Polycystic Kidney, Autosomal Recessive [MESH:D017044] (462) |
|
|
Weill-Marchesani Syndrome [MESH:D056846] (65) |
|
|
Anemia, Hemolytic, Congenital Nonspherocytic [MESH:D000746] (308) |
|
|
Anemia, Sickle Cell [MESH:D000755] (1722) |
|
|
Spherocytosis, Hereditary [MESH:D013103] (137) |
|
|
beta-Thalassemia [MESH:D017086] (458) |
|
|
|
|
|
Anemia, Diamond-Blackfan, 3 [MESH:C536355] (35) |
|
|
Fanconi Anemia, Complementation Group N [MESH:C563657] (9) |
|
|
Fanconi Anemia, Complementation Group J [MESH:C563801] (23) |
|
|
Fanconi Anemia, Complementation Group I [MESH:C563802] (34) |
|
|
Fanconi Anemia, Complementation Group D1 [MESH:C563980] (68) |
|
|
Activated Protein C Resistance [MESH:D020016] (140) |
|
|
Factor VII Deficiency [MESH:D005168] (61) |
|
|
Factor X Deficiency [MESH:D005171] (74) |
|
|
Hypoprothrombinemias [MESH:D007020] (157) |
|
|
Factor 8 deficiency, acquired [MESH:C536392] (42) |
|
|
Brugada Syndrome 7 [MESH:C567734] (31) |
|
|
Cardiomyopathy, Familial Hypertrophic, 1 [MESH:C566005] (190) |
|
|
Mosaic variegated aneuploidy syndrome [MESH:C536987] (95) |
|
|
Mental Retardation, Fra12a Type [MESH:C566980] (15) |
|
|
Beckwith-Wiedemann Syndrome [MESH:D001506] (193) |
|
|
Down Syndrome [MESH:D004314] (1287) |
|
|
Holoprosencephaly [MESH:D016142] (218) |
|
|
Silver-Russell Syndrome [MESH:D056730] (142) |
|
|
Williams Syndrome [MESH:D018980] (133) |
|
|
Wolf-Hirschhorn Syndrome [MESH:D054877] (72) |
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Fragile X Syndrome [MESH:D005600] (353) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
Laron Syndrome [MESH:D046150] (91) |
|
|
Mulibrey Nanism [MESH:D050336] (18) |
|
|
Silver-Russell Syndrome [MESH:D056730] (142) |
|
|
Basal Laminar Drusen [MESH:C563034] (52) |
|
|
Prolonged Electroretinal Response Suppression [MESH:C564243] (24) |
|
|
Weill-Marchesani Syndrome [MESH:D056846] (65) |
|
|
|
|
|
Griscelli syndrome type 2 [MESH:C537302] (30) |
|
|
Optic atrophy polyneuropathy deafness [MESH:C537129] (31) |
|
|
Optic Atrophy, Hereditary, Leber [MESH:D029242] (1100) |
|
|
Senior-Loken syndrome 4 [MESH:C537581] (17) |
|
|
Retinitis Pigmentosa 11 [MESH:C563991] (13) |
|
|
Retinitis Pigmentosa 13 [MESH:C564008] (30) |
|
|
Arts syndrome [MESH:C535388] (31) |
|
|
Cantu syndrome [MESH:C535572] (42) |
|
|
Anemia, sideroblastic spinocerebellar ataxia [MESH:C536358] (15) |
|
|
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects [MESH:C562515] (45) |
|
|
Deafness, X-Linked 1 [MESH:C564433] (31) |
|
|
Phosphoglycerate Kinase 1 Deficiency [MESH:C567067] (98) |
|
|
Dyskeratosis Congenita [MESH:D019871] (185) |
|
|
Focal Dermal Hypoplasia [MESH:D005489] (22) |
|
|
Pelizaeus-Merzbacher Disease [MESH:D020371] (103) |
|
|
Creatine deficiency, X-linked [MESH:C535598] (58) |
|
|
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance [MESH:C537456] (25) |
|
|
Mental Retardation, X-Linked 63 [MESH:C564522] (64) |
|
|
Mental Retardation, X-Linked 94 [MESH:C567479] (55) |
|
|
Adrenoleukodystrophy [MESH:D000326] (1348) |
|
|
Classical Lissencephalies and Subcortical Band Heterotopias [MESH:D054221] (114) |
|
|
Fragile X Syndrome [MESH:D005600] (353) |
|
|
Lesch-Nyhan Syndrome [MESH:D007926] (129) |
|
|
Rett Syndrome [MESH:D015518] (143) |
|
|
Anemia, Sickle Cell [MESH:D000755] (1722) |
|
|
beta-Thalassemia [MESH:D017086] (458) |
|
|
Hydrops Fetalis [MESH:D015160] (23) |
|
|
Cryopyrin-Associated Periodic Syndromes [MESH:D056587] (102) |
|
|
Mevalonate Kinase Deficiency [MESH:D054078] (38) |
|
|
Hepatolenticular Degeneration [MESH:D006527] (473) |
|
|
Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172) |
|
|
Huntington Disease [MESH:D006816] (540) |
|
|
Lesch-Nyhan Syndrome [MESH:D007926] (129) |
|
|
Rett Syndrome [MESH:D015518] (143) |
|
|
Tuberous Sclerosis [MESH:D014402] (635) |
|
|
Megalencephalic leukoencephalopathy with subcortical cysts [MESH:C536141] (28) |
|
|
Vasculopathy, Retinal, With Cerebral Leukodystrophy [MESH:C566007] (37) |
|
|
Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178) |
|
|
Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive [MESH:C564948] (44) |
|
|
Charcot-Marie-Tooth disease, Type 4E [MESH:C535301] (121) |
|
|
Charcot-Marie-Tooth disease, Type 4C [MESH:C535423] (7) |
|
|
Charcot-Marie-Tooth disease, Type 1D [MESH:C537985] (108) |
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e [MESH:C566136] (76) |
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2n [MESH:C567653] (33) |
|
|
Spastic paraplegia 10, autosomal dominant [MESH:C537482] (20) |
|
|
Spastic paraplegia 13, autosomal dominant [MESH:C537485] (178) |
|
|
Creatine deficiency, X-linked [MESH:C535598] (58) |
|
|
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance [MESH:C537456] (25) |
|
|
Mental Retardation, X-Linked 63 [MESH:C564522] (64) |
|
|
Mental Retardation, X-Linked 94 [MESH:C567479] (55) |
|
|
Adrenoleukodystrophy [MESH:D000326] (1348) |
|
|
Fragile X Syndrome [MESH:D005600] (353) |
|
|
Lesch-Nyhan Syndrome [MESH:D007926] (129) |
|
|
Rett Syndrome [MESH:D015518] (143) |
|
|
Potassium aggravated myotonia [MESH:C538353] (22) |
|
|
Schwannomatosis [MESH:C536641] (29) |
|
|
Neurofibromatosis 2 [MESH:D016518] (29) |
|
|
Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946) |
|
|
Optic atrophy polyneuropathy deafness [MESH:C537129] (31) |
|
|
Optic Atrophy, Hereditary, Leber [MESH:D029242] (1100) |
|
|
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 [MESH:C567023] (12) |
|
|
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy [MESH:C537313] (22) |
|
|
Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31) |
|
|
Anemia, sideroblastic spinocerebellar ataxia [MESH:C536358] (15) |
|
|
Spinocerebellar Ataxia 31 [MESH:C566146] (15) |
|
|
Shprintzen Golberg craniosynostosis [MESH:C537328] (76) |
|
|
3-Methylglutaconic Aciduria, Type I [MESH:C562801] (29) |
|
|
Combined Oxidative Phosphorylation Deficiency 1 [MESH:C563797] (24) |
|
|
Methylcobalamin Deficiency, CblG Type [MESH:C565394] (49) |
|
|
Phosphoglycerate Kinase 1 Deficiency [MESH:C567067] (98) |
|
|
Combined Oxidative Phosphorylation Deficiency 5 [MESH:C567126] (11) |
|
|
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency [MESH:C567784] (102) |
|
|
Glutathionuria [MESH:C536836] (96) |
|
|
Sarcosinemia [MESH:C537236] (38) |
|
|
Methylmalonic acidemia [MESH:C537358] (764) |
|
|
Methylmalonic aciduria cblB type [MESH:C537361] (19) |
|
|
Arginine:Glycine Amidinotransferase Deficiency [MESH:C567192] (66) |
|
|
Hyperhomocysteinemia [MESH:D020138] (1724) |
|
|
|
|
|
Griscelli syndrome type 2 [MESH:C537302] (30) |
|
|
|
|
|
Neonatal-onset citrullinemia type 2 [MESH:C536398] (35) |
|
|
Adult-onset citrullinemia type 2 [MESH:C538053] (35) |
|
|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type [MESH:C537944] (333) |
|
|
Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333) |
|
|
Creatine deficiency, X-linked [MESH:C535598] (58) |
|
|
Galactosemias [MESH:D005693] (69) |
|
|
Hepatolenticular Degeneration [MESH:D006527] (473) |
|
|
Lesch-Nyhan Syndrome [MESH:D007926] (129) |
|
|
MELAS Syndrome [MESH:D017241] (1061) |
|
|
MERRF Syndrome [MESH:D017243] (1053) |
|
|
Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333) |
|
|
Megalencephalic leukoencephalopathy with subcortical cysts [MESH:C536141] (28) |
|
|
Vasculopathy, Retinal, With Cerebral Leukodystrophy [MESH:C566007] (37) |
|
|
Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178) |
|
|
Adrenoleukodystrophy [MESH:D000326] (1348) |
|
|
Pelizaeus-Merzbacher Disease [MESH:D020371] (103) |
|
|
Leigh syndrome , French Canadian type [MESH:C537004] (35) |
|
|
|
|
|
Microvillus inclusion disease [MESH:C537470] (28) |
|
|
Sea-Blue Histiocyte Syndrome [MESH:D012618] (165) |
|
|
|
|
|
Niemann-Pick disease, type C2 [MESH:C536119] (43) |
|
|
Adrenoleukodystrophy [MESH:D000326] (1348) |
|
|
Mevalonate Kinase Deficiency [MESH:D054078] (38) |
|
|
|
|
|
Neonatal-onset citrullinemia type 2 [MESH:C536398] (35) |
|
|
Adult-onset citrullinemia type 2 [MESH:C538053] (35) |
|
|
Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83) |
|
|
Galactosemias [MESH:D005693] (69) |
|
|
Lactate dehydrogenase deficiency type A [MESH:C538133] (119) |
|
|
Lactose Intolerance, Adult Type [MESH:C562601] (112) |
|
|
Microvillus inclusion disease [MESH:C537470] (28) |
|
|
Mucopolysaccharidosis IV [MESH:D009085] (46) |
|
|
|
|
|
Leigh syndrome , French Canadian type [MESH:C537004] (35) |
|
|
Leigh syndrome , French Canadian type [MESH:C537004] (35) |
|
|
Desmosterolosis [MESH:C566555] (85) |
|
|
Hyperlipoproteinemia Type II [MESH:D006938] (707) |
|
|
Hyperlipoproteinemia Type III [MESH:D006952] (181) |
|
|
Smith-Lemli-Opitz Syndrome [MESH:D019082] (100) |
|
|
|
|
|
Familial HDL deficiency [MESH:C538394] (170) |
|
|
Tangier Disease [MESH:D013631] (170) |
|
|
|
|
|
Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946) |
|
|
Sea-Blue Histiocyte Syndrome [MESH:D012618] (165) |
|
|
|
|
|
Niemann-Pick disease, type C2 [MESH:C536119] (43) |
|
|
Lipodystrophy, Congenital Generalized, Type 3 [MESH:C567282] (145) |
|
|
Lipodystrophy, Congenital Generalized, Type 4 [MESH:C567642] (38) |
|
|
|
|
|
|
|
|
Microvillus inclusion disease [MESH:C537470] (28) |
|
|
Sea-Blue Histiocyte Syndrome [MESH:D012618] (165) |
|
|
|
|
|
Niemann-Pick disease, type C2 [MESH:C536119] (43) |
|
|
Mucopolysaccharidosis IV [MESH:D009085] (46) |
|
|
Hepatolenticular Degeneration [MESH:D006527] (473) |
|
|
Hemochromatosis, type 4 [MESH:C537249] (89) |
|
|
Hypophosphatasia, Childhood [MESH:C562440] (137) |
|
|
Hypophosphatasia, Infantile [MESH:C562646] (137) |
|
|
Hypophosphatasia, Adult [MESH:C562647] (137) |
|
|
|
|
|
Vitamin D-Dependent Rickets, Type 2A [MESH:C562794] (137) |
|
|
Hypophosphatemic Rickets, Autosomal Recessive, 2 [MESH:C567647] (48) |
|
|
Paralysis, Hyperkalemic Periodic [MESH:D020513] (42) |
|
|
Hypokalemic Periodic Paralysis, Type 2 [MESH:C567635] (22) |
|
|
Adrenoleukodystrophy [MESH:D000326] (1348) |
|
|
Mevalonate Kinase Deficiency [MESH:D054078] (38) |
|
|
Rhizomelic chondrodysplasia punctata, type 3 [MESH:C537608] (26) |
|
|
|
|
|
Coproporphyria, Hereditary [MESH:D046349] (38) |
|
|
Porphyria, Acute Intermittent [MESH:D017118] (61) |
|
|
Porphyria Cutanea Tarda [MESH:D017119] (766) |
|
|
Oroticaciduria 1 [MESH:C537136] (41) |
|
|
Adenylosuccinate lyase deficiency [MESH:C538235] (28) |
|
|
Phosphoribosylpyrophosphate Synthetase Superactivity [MESH:C567064] (31) |
|
|
Dihydropyrimidine Dehydrogenase Deficiency [MESH:D054067] (88) |
|
|
Lesch-Nyhan Syndrome [MESH:D007926] (129) |
|
|
Iminoglycinuria [MESH:C536285] (38) |
|
|
Donnai-Barrow syndrome [MESH:C536390] (40) |
|
|
Hypomagnesemia 2, renal [MESH:C537152] (38) |
|
|
Hypomagnesemia primary [MESH:C537153] (35) |
|
|
Hypomagnesemia 1, Intestinal [MESH:C566593] (19) |
|
|
Cataract, Juvenile, With Microcornea And Glucosuria [MESH:C567434] (26) |
|
|
|
|
|
Vitamin D-Dependent Rickets, Type 2A [MESH:C562794] (137) |
|
|
Hypophosphatemic Rickets, Autosomal Recessive, 2 [MESH:C567647] (48) |
|
|
Adrenal Hyperplasia, Congenital [MESH:D000312] (674) |
|
|
Antley-Bixler Syndrome Phenotype [MESH:D054882] (284) |
|
|
Smith-Lemli-Opitz Syndrome [MESH:D019082] (100) |
|
|
Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854) |
|
|
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia [MESH:C563476] (57) |
|
|
Myopathy, Congenital, Compton-North [MESH:C567261] (35) |
|
|
Meningioma, familial [MESH:C537443] (195) |
|
|
Juvenile polyposis syndrome [MESH:C537702] (196) |
|
|
Hamartoma Syndrome, Multiple [MESH:D006223] (260) |
|
|
Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143) |
|
|
Li-Fraumeni Syndrome [MESH:D016864] (859) |
|
|
Tuberous Sclerosis [MESH:D014402] (635) |
|
|
Wilms Tumor [MESH:D009396] (553) |
|
|
Polyposis Syndrome, Hereditary Mixed, 2 [MESH:C566451] (26) |
|
|
Schwannomatosis [MESH:C536641] (29) |
|
|
Neurofibromatosis 2 [MESH:D016518] (29) |
|
|
Osteogenesis imperfecta, type 2A [MESH:C536042] (375) |
|
|
Osteogenesis imperfecta, type 3 [MESH:C536044] (375) |
|
|
Osteogenesis imperfecta, type 4 [MESH:C536045] (375) |
|
|
Vohwinkel Syndrome, Variant Form [MESH:C565826] (22) |
|
|
Stiff Skin Syndrome [MESH:C566112] (62) |
|
|
Darier Disease [MESH:D007644] (125) |
|
|
Dyskeratosis Congenita [MESH:D019871] (185) |
|
|
|
|
|
Griscelli syndrome type 2 [MESH:C537302] (30) |
|
|
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities [MESH:C567716] (33) |
|
|
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis [MESH:C567770] (35) |
|
|
Dermatitis, Atopic, 4 [MESH:C565291] (130) |
|
|
Ectodermal dysplasia, ectrodactyly, and macular dystrophy [MESH:C536190] (34) |
|
|
Odontoonychodermal dysplasia [MESH:C537742] (21) |
|
|
Ellis-Van Creveld Syndrome [MESH:D004613] (50) |
|
|
Focal Dermal Hypoplasia [MESH:D005489] (22) |
|
|
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome [MESH:C537943] (28) |
|
|
Ehlers-Danlos syndrome caused by tenascin-X deficiency [MESH:C536193] (20) |
|
|
Ehlers-Danlos syndrome type 1 [MESH:C536194] (344) |
|
|
Ehlers-Danlos syndrome type 3 [MESH:C536196] (142) |
|
|
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant [MESH:C562625] (375) |
|
|
Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive [MESH:C567527] (26) |
|
|
|
|
|
Epidermolysis Bullosa, Junctional, Non-Herlitz Type [MESH:C562639] (150) |
|
|
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects [MESH:C562515] (45) |
|
|
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome [MESH:C537943] (28) |
|
|
Naxos disease [MESH:C538346] (51) |
|
|
Schopf-Schulz-Passarge Syndrome [MESH:C565607] (21) |
|
|
Keratosis palmoplantaris with periodontopathia and onychogryposis [MESH:C537627] (73) |
|
|
Porokeratosis, disseminated superficial actinic 1 [MESH:C536339] (52) |
|
|
Coproporphyria, Hereditary [MESH:D046349] (38) |
|
|
Porphyria, Acute Intermittent [MESH:D017118] (61) |
|
|
Porphyria Cutanea Tarda [MESH:D017119] (766) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
Xeroderma pigmentosum, variant type [MESH:C536766] (22) |
|
|
Hyperostosis, Cortical, Congenital [MESH:D006958] (392) |
|
|
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78) |
|
|
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects [MESH:C562515] (45) |
|
|
Bronchopulmonary Dysplasia [MESH:D001997] (1021) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
Severe combined immunodeficiency due to adenosine deaminase deficiency [MESH:C531816] (67) |
|
|
Reticular dysgenesis [MESH:C538361] (49) |
|
|
Bare Lymphocyte Syndrome, Type I [MESH:C565759] (101) |
|
 |
C17. Skin and Connective Tissue Diseases |
 |
 |
|
C17. Skin and Connective Tissue Diseases |
|
|
Dermatomyositis [MESH:D003882] (1826) |
|
|
Lupus Erythematosus, Systemic [MESH:D008180] (2317) |
|
|
Scleroderma, Localized [MESH:D012594] (1597) |
|
|
Scleroderma, Systemic [MESH:D012595] (199) |
|
|
Weill-Marchesani Syndrome [MESH:D056846] (65) |
|
|
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities [MESH:C567716] (33) |
|
|
Keloid [MESH:D007627] (1111) |
|
|
Ehlers-Danlos syndrome caused by tenascin-X deficiency [MESH:C536193] (20) |
|
|
Ehlers-Danlos syndrome type 1 [MESH:C536194] (344) |
|
|
Ehlers-Danlos syndrome type 3 [MESH:C536196] (142) |
|
|
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant [MESH:C562625] (375) |
|
|
Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive [MESH:C567527] (26) |
|
|
Osteogenesis imperfecta, type 2A [MESH:C536042] (375) |
|
|
Osteogenesis imperfecta, type 3 [MESH:C536044] (375) |
|
|
Osteogenesis imperfecta, type 4 [MESH:C536045] (375) |
|
|
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities [MESH:C567716] (33) |
|
|
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis [MESH:C567770] (35) |
|
|
Chilblain lupus [MESH:C535924] (37) |
|
|
Shprintzen Golberg craniosynostosis [MESH:C537328] (76) |
|
|
|
|
|
Mucopolysaccharidosis IV [MESH:D009085] (46) |
|
|
Arthritis, Juvenile [MESH:D001171] (1060) |
|
|
Arthritis, Rheumatoid [MESH:D001172] (3603) |
|
|
MASS syndrome [MESH:C536030] (62) |
|
|
Dermatomyositis [MESH:D003882] (1826) |
|
|
Erythema [MESH:D004890] (1330) |
|
|
Exanthema [MESH:D005076] (301) |
|
|
Nail Diseases [MESH:D009260] (203) |
|
|
Nephrogenic Fibrosing Dermopathy [MESH:D054989] (452) |
|
|
Scleroderma, Localized [MESH:D012594] (1597) |
|
|
Scleroderma, Systemic [MESH:D012595] (199) |
|
|
Skin Ulcer [MESH:D012883] (229) |
|
|
Chloracne [MESH:D054506] (1274) |
|
|
|
|
|
Breast Neoplasms, Male [MESH:D018567] (650) |
|
|
Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143) |
|
|
Inflammatory Breast Neoplasms [MESH:D058922] (43) |
|
|
Drug Eruptions [MESH:D003875] (2697) |
|
|
Eczema [MESH:D004485] (235) |
|
|
Dermatitis, Atopic, 4 [MESH:C565291] (130) |
|
|
Dermatitis, Allergic Contact [MESH:D017449] (3241) |
|
|
|
|
|
Chloracne [MESH:D054506] (1274) |
|
|
Naxos disease [MESH:C538346] (51) |
|
|
Cantu syndrome [MESH:C535572] (42) |
|
|
Juvenile macular degeneration and hypotrichosis [MESH:C537698] (34) |
|
|
Schopf-Schulz-Passarge Syndrome [MESH:C565607] (21) |
|
|
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78) |
|
|
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis [MESH:C567770] (35) |
|
|
Alopecia Areata [MESH:D000506] (168) |
|
|
Darier Disease [MESH:D007644] (125) |
|
|
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78) |
|
|
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects [MESH:C562515] (45) |
|
|
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome [MESH:C537943] (28) |
|
|
Naxos disease [MESH:C538346] (51) |
|
|
Schopf-Schulz-Passarge Syndrome [MESH:C565607] (21) |
|
|
Keratosis palmoplantaris with periodontopathia and onychogryposis [MESH:C537627] (73) |
|
|
Porokeratosis, disseminated superficial actinic 1 [MESH:C536339] (52) |
|
|
Chilblain lupus [MESH:C535924] (37) |
|
|
Mastocytosis, Cutaneous [MESH:D034701] (45) |
|
|
|
|
|
Xeroderma pigmentosum, variant type [MESH:C536766] (22) |
|
|
|
|
|
|
|
|
|
|
|
Cutis Gyrata Syndrome of Beare And Stevenson [MESH:C565129] (85) |
|
|
Vitiligo [MESH:D014820] (504) |
|
|
|
|
|
Griscelli syndrome type 2 [MESH:C537302] (30) |
|
|
Xeroderma pigmentosum, variant type [MESH:C536766] (22) |
|
|
Cutis Gyrata Syndrome of Beare And Stevenson [MESH:C565129] (85) |
|
|
Cutis Gyrata Syndrome of Beare And Stevenson [MESH:C565129] (85) |
|
|
Dyskeratosis Congenita [MESH:D019871] (185) |
|
|
Ectodermal dysplasia, ectrodactyly, and macular dystrophy [MESH:C536190] (34) |
|
|
Odontoonychodermal dysplasia [MESH:C537742] (21) |
|
|
Ellis-Van Creveld Syndrome [MESH:D004613] (50) |
|
|
Focal Dermal Hypoplasia [MESH:D005489] (22) |
|
|
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome [MESH:C537943] (28) |
|
|
Ehlers-Danlos syndrome caused by tenascin-X deficiency [MESH:C536193] (20) |
|
|
Ehlers-Danlos syndrome type 1 [MESH:C536194] (344) |
|
|
Ehlers-Danlos syndrome type 3 [MESH:C536196] (142) |
|
|
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant [MESH:C562625] (375) |
|
|
Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive [MESH:C567527] (26) |
|
|
|
|
|
Epidermolysis Bullosa, Junctional, Non-Herlitz Type [MESH:C562639] (150) |
|
|
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78) |
|
|
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects [MESH:C562515] (45) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
Xeroderma pigmentosum, variant type [MESH:C536766] (22) |
|
|
Eczema [MESH:D004485] (235) |
|
|
Dermatitis, Atopic, 4 [MESH:C565291] (130) |
|
|
Dermatitis, Allergic Contact [MESH:D017449] (3241) |
|
|
Vohwinkel Syndrome, Variant Form [MESH:C565826] (22) |
|
|
Stiff Skin Syndrome [MESH:C566112] (62) |
|
|
Darier Disease [MESH:D007644] (125) |
|
|
Dyskeratosis Congenita [MESH:D019871] (185) |
|
|
|
|
|
Griscelli syndrome type 2 [MESH:C537302] (30) |
|
|
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities [MESH:C567716] (33) |
|
|
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis [MESH:C567770] (35) |
|
|
Dermatitis, Atopic, 4 [MESH:C565291] (130) |
|
|
Ectodermal dysplasia, ectrodactyly, and macular dystrophy [MESH:C536190] (34) |
|
|
Odontoonychodermal dysplasia [MESH:C537742] (21) |
|
|
Ellis-Van Creveld Syndrome [MESH:D004613] (50) |
|
|
Focal Dermal Hypoplasia [MESH:D005489] (22) |
|
|
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome [MESH:C537943] (28) |
|
|
Ehlers-Danlos syndrome caused by tenascin-X deficiency [MESH:C536193] (20) |
|
|
Ehlers-Danlos syndrome type 1 [MESH:C536194] (344) |
|
|
Ehlers-Danlos syndrome type 3 [MESH:C536196] (142) |
|
|
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant [MESH:C562625] (375) |
|
|
Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive [MESH:C567527] (26) |
|
|
|
|
|
Epidermolysis Bullosa, Junctional, Non-Herlitz Type [MESH:C562639] (150) |
|
|
Cryopyrin-Associated Periodic Syndromes [MESH:D056587] (102) |
|
|
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects [MESH:C562515] (45) |
|
|
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome [MESH:C537943] (28) |
|
|
Naxos disease [MESH:C538346] (51) |
|
|
Schopf-Schulz-Passarge Syndrome [MESH:C565607] (21) |
|
|
Keratosis palmoplantaris with periodontopathia and onychogryposis [MESH:C537627] (73) |
|
|
Porokeratosis, disseminated superficial actinic 1 [MESH:C536339] (52) |
|
|
Coproporphyria, Hereditary [MESH:D046349] (38) |
|
|
Porphyria, Acute Intermittent [MESH:D017118] (61) |
|
|
Porphyria Cutanea Tarda [MESH:D017119] (766) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
Xeroderma pigmentosum, variant type [MESH:C536766] (22) |
|
|
|
|
|
|
|
|
Candidiasis familial chronic mucocutaneous, autosomal recessive [MESH:C537979] (36) |
|
|
|
|
|
|
|
|
Leishmaniasis, Mucocutaneous [MESH:D007897] (606) |
|
|
|
|
|
Lipodystrophy, Partial, Acquired [MESH:C562448] (26) |
|
|
Lipodystrophy, Familial Partial [MESH:D052496] (589) |
|
|
Lipodystrophy, Congenital Generalized, Type 3 [MESH:C567282] (145) |
|
|
Lipodystrophy, Congenital Generalized, Type 4 [MESH:C567642] (38) |
|
|
|
|
|
Coproporphyria, Hereditary [MESH:D046349] (38) |
|
|
Porphyria, Acute Intermittent [MESH:D017118] (61) |
|
|
Porphyria Cutanea Tarda [MESH:D017119] (766) |
|
|
Lichenoid Eruptions [MESH:D017512] (1324) |
|
|
Arthritis, Psoriatic [MESH:D015535] (1859) |
|
|
Behcet Syndrome [MESH:D001528] (1784) |
|
|
Mucocutaneous Lymph Node Syndrome [MESH:D009080] (158) |
|
|
Urticaria [MESH:D014581] (2668) |
|
|
Pemphigus [MESH:D010392] (158) |
|
|
|
|
|
Epidermolysis Bullosa, Junctional, Non-Herlitz Type [MESH:C562639] (150) |
|
|
Schwannomatosis [MESH:C536641] (29) |
|
 |
C18. Nutritional and Metabolic Diseases |
 |
 |
|
C18. Nutritional and Metabolic Diseases |
|
|
Metabolic Syndrome X [MESH:D024821] (2151) |
|
|
|
|
|
Creatine deficiency, X-linked [MESH:C535598] (58) |
|
|
Galactosemias [MESH:D005693] (69) |
|
|
Hepatolenticular Degeneration [MESH:D006527] (473) |
|
|
Lesch-Nyhan Syndrome [MESH:D007926] (129) |
|
|
MELAS Syndrome [MESH:D017241] (1061) |
|
|
MERRF Syndrome [MESH:D017243] (1053) |
|
|
Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333) |
|
|
Megalencephalic leukoencephalopathy with subcortical cysts [MESH:C536141] (28) |
|
|
Vasculopathy, Retinal, With Cerebral Leukodystrophy [MESH:C566007] (37) |
|
|
Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178) |
|
|
Adrenoleukodystrophy [MESH:D000326] (1348) |
|
|
Pelizaeus-Merzbacher Disease [MESH:D020371] (103) |
|
|
Leigh syndrome , French Canadian type [MESH:C537004] (35) |
|
|
|
|
|
Microvillus inclusion disease [MESH:C537470] (28) |
|
|
Sea-Blue Histiocyte Syndrome [MESH:D012618] (165) |
|
|
|
|
|
Niemann-Pick disease, type C2 [MESH:C536119] (43) |
|
|
Adrenoleukodystrophy [MESH:D000326] (1348) |
|
|
Mevalonate Kinase Deficiency [MESH:D054078] (38) |
|
|
|
|
|
Neonatal-onset citrullinemia type 2 [MESH:C536398] (35) |
|
|
Adult-onset citrullinemia type 2 [MESH:C538053] (35) |
|
|
Combined Oxidative Phosphorylation Deficiency 1 [MESH:C563797] (24) |
|
|
Hypercalcemia [MESH:D006934] (1999) |
|
|
|
|
|
Hypomagnesemia primary [MESH:C537153] (35) |
|
|
Arterial calcification of infancy [MESH:C537440] (48) |
|
|
Hypomagnesemia 1, Intestinal [MESH:C566593] (19) |
|
|
|
|
|
|
|
|
Vitamin D-Dependent Rickets, Type 2A [MESH:C562794] (137) |
|
|
Hypophosphatemic Rickets, Autosomal Recessive, 2 [MESH:C567647] (48) |
|
|
Bloom Syndrome [MESH:D001816] (107) |
|
|
Li-Fraumeni Syndrome [MESH:D016864] (859) |
|
|
Fanconi Anemia, Complementation Group N [MESH:C563657] (9) |
|
|
Fanconi Anemia, Complementation Group J [MESH:C563801] (23) |
|
|
Fanconi Anemia, Complementation Group I [MESH:C563802] (34) |
|
|
Fanconi Anemia, Complementation Group D1 [MESH:C563980] (68) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
Severe combined immunodeficiency due to adenosine deaminase deficiency [MESH:C531816] (67) |
|
|
Reticular dysgenesis [MESH:C538361] (49) |
|
|
Bare Lymphocyte Syndrome, Type I [MESH:C565759] (101) |
|
|
Xeroderma pigmentosum, variant type [MESH:C536766] (22) |
|
|
|
|
|
Diabetes Mellitus, Experimental [MESH:D003921] (4771) |
|
|
Diabetes, Gestational [MESH:D016640] (1152) |
|
|
Diabetes Mellitus, Insulin-Dependent, 12 [MESH:C563326] (23) |
|
|
Diabetes Mellitus, Insulin-Dependent, 10 [MESH:C566602] (88) |
|
|
Diabetes Mellitus, Insulin-Dependent, 22 [MESH:C567284] (72) |
|
|
Diabetes Mellitus, Insulin-Dependent, 20 [MESH:C567286] (49) |
|
|
Maturity-Onset Diabetes of the Young, Type 3 [MESH:C563933] (49) |
|
|
|
|
|
Cataract, Juvenile, With Microcornea And Glucosuria [MESH:C567434] (26) |
|
|
Glucose Intolerance [MESH:D018149] (605) |
|
|
|
|
|
Metabolic Syndrome X [MESH:D024821] (2151) |
|
|
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency [MESH:C567784] (102) |
|
|
Familial apoceruloplasmin deficiency [MESH:C536004] (211) |
|
|
Anemia, Iron-Deficiency [MESH:D018798] (547) |
|
|
|
|
|
Hemochromatosis, type 4 [MESH:C537249] (89) |
|
|
|
|
|
Smith-Lemli-Opitz Syndrome [MESH:D019082] (100) |
|
|
Hypercholesterolemia [MESH:D006937] (1404) |
|
|
Hyperlipoproteinemia Type II [MESH:D006938] (707) |
|
|
Hyperlipoproteinemia Type III [MESH:D006952] (181) |
|
|
|
|
|
Familial HDL deficiency [MESH:C538394] (170) |
|
|
Tangier Disease [MESH:D013631] (170) |
|
|
Desmosterolosis [MESH:C566555] (85) |
|
|
Lipodystrophy, Partial, Acquired [MESH:C562448] (26) |
|
|
Lipodystrophy, Familial Partial [MESH:D052496] (589) |
|
|
Lipodystrophy, Congenital Generalized, Type 3 [MESH:C567282] (145) |
|
|
Lipodystrophy, Congenital Generalized, Type 4 [MESH:C567642] (38) |
|
|
|
|
|
Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946) |
|
|
Sea-Blue Histiocyte Syndrome [MESH:D012618] (165) |
|
|
|
|
|
Niemann-Pick disease, type C2 [MESH:C536119] (43) |
|
|
Microvillus inclusion disease [MESH:C537470] (28) |
|
|
Celiac Disease [MESH:D002446] (340) |
|
|
Hyperhomocysteinemia [MESH:D020138] (1716) |
|
|
Lactose Intolerance, Adult Type [MESH:C562601] (112) |
|
|
3-Methylglutaconic Aciduria, Type I [MESH:C562801] (29) |
|
|
Combined Oxidative Phosphorylation Deficiency 1 [MESH:C563797] (24) |
|
|
Methylcobalamin Deficiency, CblG Type [MESH:C565394] (49) |
|
|
Phosphoglycerate Kinase 1 Deficiency [MESH:C567067] (98) |
|
|
Combined Oxidative Phosphorylation Deficiency 5 [MESH:C567126] (11) |
|
|
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency [MESH:C567784] (102) |
|
|
Glutathionuria [MESH:C536836] (96) |
|
|
Sarcosinemia [MESH:C537236] (38) |
|
|
Methylmalonic acidemia [MESH:C537358] (764) |
|
|
Methylmalonic aciduria cblB type [MESH:C537361] (19) |
|
|
Arginine:Glycine Amidinotransferase Deficiency [MESH:C567192] (66) |
|
|
Hyperhomocysteinemia [MESH:D020138] (1724) |
|
|
|
|
|
Griscelli syndrome type 2 [MESH:C537302] (30) |
|
|
|
|
|
Neonatal-onset citrullinemia type 2 [MESH:C536398] (35) |
|
|
Adult-onset citrullinemia type 2 [MESH:C538053] (35) |
|
|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type [MESH:C537944] (333) |
|
|
Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333) |
|
|
Creatine deficiency, X-linked [MESH:C535598] (58) |
|
|
Galactosemias [MESH:D005693] (69) |
|
|
Hepatolenticular Degeneration [MESH:D006527] (473) |
|
|
Lesch-Nyhan Syndrome [MESH:D007926] (129) |
|
|
MELAS Syndrome [MESH:D017241] (1061) |
|
|
MERRF Syndrome [MESH:D017243] (1053) |
|
|
Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333) |
|
|
Megalencephalic leukoencephalopathy with subcortical cysts [MESH:C536141] (28) |
|
|
Vasculopathy, Retinal, With Cerebral Leukodystrophy [MESH:C566007] (37) |
|
|
Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178) |
|
|
Adrenoleukodystrophy [MESH:D000326] (1348) |
|
|
Pelizaeus-Merzbacher Disease [MESH:D020371] (103) |
|
|
Leigh syndrome , French Canadian type [MESH:C537004] (35) |
|
|
|
|
|
Microvillus inclusion disease [MESH:C537470] (28) |
|
|
Sea-Blue Histiocyte Syndrome [MESH:D012618] (165) |
|
|
|
|
|
Niemann-Pick disease, type C2 [MESH:C536119] (43) |
|
|
Adrenoleukodystrophy [MESH:D000326] (1348) |
|
|
Mevalonate Kinase Deficiency [MESH:D054078] (38) |
|
|
|
|
|
Neonatal-onset citrullinemia type 2 [MESH:C536398] (35) |
|
|
Adult-onset citrullinemia type 2 [MESH:C538053] (35) |
|
|
Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83) |
|
|
Galactosemias [MESH:D005693] (69) |
|
|
Lactate dehydrogenase deficiency type A [MESH:C538133] (119) |
|
|
Lactose Intolerance, Adult Type [MESH:C562601] (112) |
|
|
Microvillus inclusion disease [MESH:C537470] (28) |
|
|
Mucopolysaccharidosis IV [MESH:D009085] (46) |
|
|
|
|
|
Leigh syndrome , French Canadian type [MESH:C537004] (35) |
|
|
Desmosterolosis [MESH:C566555] (85) |
|
|
Hyperlipoproteinemia Type II [MESH:D006938] (707) |
|
|
Hyperlipoproteinemia Type III [MESH:D006952] (181) |
|
|
Smith-Lemli-Opitz Syndrome [MESH:D019082] (100) |
|
|
|
|
|
Familial HDL deficiency [MESH:C538394] (170) |
|
|
Tangier Disease [MESH:D013631] (170) |
|
|
|
|
|
Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946) |
|
|
Sea-Blue Histiocyte Syndrome [MESH:D012618] (165) |
|
|
|
|
|
Niemann-Pick disease, type C2 [MESH:C536119] (43) |
|
|
Lipodystrophy, Congenital Generalized, Type 3 [MESH:C567282] (145) |
|
|
Lipodystrophy, Congenital Generalized, Type 4 [MESH:C567642] (38) |
|
|
|
|
|
|
|
|
Microvillus inclusion disease [MESH:C537470] (28) |
|
|
Sea-Blue Histiocyte Syndrome [MESH:D012618] (165) |
|
|
|
|
|
Niemann-Pick disease, type C2 [MESH:C536119] (43) |
|
|
Mucopolysaccharidosis IV [MESH:D009085] (46) |
|
|
Hepatolenticular Degeneration [MESH:D006527] (473) |
|
|
Hemochromatosis, type 4 [MESH:C537249] (89) |
|
|
Hypophosphatasia, Childhood [MESH:C562440] (137) |
|
|
Hypophosphatasia, Infantile [MESH:C562646] (137) |
|
|
Hypophosphatasia, Adult [MESH:C562647] (137) |
|
|
|
|
|
Vitamin D-Dependent Rickets, Type 2A [MESH:C562794] (137) |
|
|
Hypophosphatemic Rickets, Autosomal Recessive, 2 [MESH:C567647] (48) |
|
|
Paralysis, Hyperkalemic Periodic [MESH:D020513] (42) |
|
|
Hypokalemic Periodic Paralysis, Type 2 [MESH:C567635] (22) |
|
|
Adrenoleukodystrophy [MESH:D000326] (1348) |
|
|
Mevalonate Kinase Deficiency [MESH:D054078] (38) |
|
|
Rhizomelic chondrodysplasia punctata, type 3 [MESH:C537608] (26) |
|
|
|
|
|
Coproporphyria, Hereditary [MESH:D046349] (38) |
|
|
Porphyria, Acute Intermittent [MESH:D017118] (61) |
|
|
Porphyria Cutanea Tarda [MESH:D017119] (766) |
|
|
Oroticaciduria 1 [MESH:C537136] (41) |
|
|
Adenylosuccinate lyase deficiency [MESH:C538235] (28) |
|
|
Phosphoribosylpyrophosphate Synthetase Superactivity [MESH:C567064] (31) |
|
|
Dihydropyrimidine Dehydrogenase Deficiency [MESH:D054067] (88) |
|
|
Lesch-Nyhan Syndrome [MESH:D007926] (129) |
|
|
Iminoglycinuria [MESH:C536285] (38) |
|
|
Donnai-Barrow syndrome [MESH:C536390] (40) |
|
|
Hypomagnesemia 2, renal [MESH:C537152] (38) |
|
|
Hypomagnesemia primary [MESH:C537153] (35) |
|
|
Hypomagnesemia 1, Intestinal [MESH:C566593] (19) |
|
|
Cataract, Juvenile, With Microcornea And Glucosuria [MESH:C567434] (26) |
|
|
|
|
|
Vitamin D-Dependent Rickets, Type 2A [MESH:C562794] (137) |
|
|
Hypophosphatemic Rickets, Autosomal Recessive, 2 [MESH:C567647] (48) |
|
|
Adrenal Hyperplasia, Congenital [MESH:D000312] (674) |
|
|
Antley-Bixler Syndrome Phenotype [MESH:D054882] (284) |
|
|
Smith-Lemli-Opitz Syndrome [MESH:D019082] (100) |
|
|
Sarcosinemia [MESH:C537236] (38) |
|
|
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 [MESH:C563575] (77) |
|
|
Combined Oxidative Phosphorylation Deficiency 5 [MESH:C567126] (11) |
|
|
Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178) |
|
|
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency [MESH:C567784] (102) |
|
|
Kearns-Sayre Syndrome [MESH:D007625] (1054) |
|
|
Optic Atrophy, Hereditary, Leber [MESH:D029242] (1100) |
|
|
Leigh syndrome , French Canadian type [MESH:C537004] (35) |
|
|
Leigh syndrome , French Canadian type [MESH:C537004] (35) |
|
|
|
|
|
MELAS Syndrome [MESH:D017241] (1061) |
|
|
MERRF Syndrome [MESH:D017243] (1053) |
|
|
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 [MESH:C563750] (56) |
|
|
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis [MESH:C564593] (8) |
|
|
Kearns-Sayre Syndrome [MESH:D007625] (1054) |
|
|
|
|
|
|
|
|
|
|
|
Vitamin D-Dependent Rickets, Type 2A [MESH:C562794] (137) |
|
|
Hypophosphatemic Rickets, Autosomal Recessive, 2 [MESH:C567647] (48) |
|
|
|
|
|
Vitamin D-Dependent Rickets, Type 2A [MESH:C562794] (137) |
|
|
Hypophosphatemic Rickets, Autosomal Recessive, 2 [MESH:C567647] (48) |
|
|
|
|
|
Coproporphyria, Hereditary [MESH:D046349] (38) |
|
|
Porphyria, Acute Intermittent [MESH:D017118] (61) |
|
|
Porphyria Cutanea Tarda [MESH:D017119] (766) |
|
|
|
|
|
|
|
|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type [MESH:C537944] (333) |
|
|
Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333) |
|
|
|
|
|
Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333) |
|
|
|
|
|
Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559) |
|
|
Amyotrophic Lateral Sclerosis, Sporadic [MESH:C566291] (239) |
|
|
Amyotrophic Lateral Sclerosis 10 [MESH:C567429] (36) |
|
|
|
|
|
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia [MESH:C563476] (57) |
|
|
|
|
|
Lipodystrophy, Partial, Acquired [MESH:C562448] (26) |
|
|
Lipodystrophy, Familial Partial [MESH:D052496] (589) |
|
|
Lipodystrophy, Congenital Generalized, Type 3 [MESH:C567282] (145) |
|
|
Lipodystrophy, Congenital Generalized, Type 4 [MESH:C567642] (38) |
|
|
|
|
|
Coproporphyria, Hereditary [MESH:D046349] (38) |
|
|
Porphyria, Acute Intermittent [MESH:D017118] (61) |
|
|
Porphyria Cutanea Tarda [MESH:D017119] (766) |
|
|
HIV Wasting Syndrome [MESH:D019247] (1956) |
|
|
Hypercalcemia [MESH:D006934] (1999) |
|
|
Hyponatremia [MESH:D007010] (789) |
|
|
Hypomagnesemia 1, Intestinal [MESH:C566593] (19) |
|
|
|
|
|
|
|
|
Magnesium Deficiency [MESH:D008275] (44) |
|
|
Vitamin A Deficiency [MESH:D014802] (705) |
|
|
Folic Acid Deficiency [MESH:D005494] (134) |
|
|
Hyperhomocysteinemia [MESH:D020138] (1716) |
|
|
|
|
|
|
|
|
|
|
|
Vitamin D-Dependent Rickets, Type 2A [MESH:C562794] (137) |
|
|
Hypophosphatemic Rickets, Autosomal Recessive, 2 [MESH:C567647] (48) |
|
|
|
|
|
Obesity, Morbid [MESH:D009767] (515) |
|
|
HIV Wasting Syndrome [MESH:D019247] (1956) |
|
 |
C19. Endocrine System Diseases |
 |
 |
|
C19. Endocrine System Diseases |
|
|
|
|
|
Adrenal Hyperplasia, Congenital [MESH:D000312] (674) |
|
|
|
|
|
Adrenocortical Carcinoma [MESH:D018268] (821) |
|
|
|
|
|
Adrenocortical Carcinoma [MESH:D018268] (821) |
|
|
Achalasia Addisonianism Alacrimia syndrome [MESH:C536008] (24) |
|
|
Adrenoleukodystrophy [MESH:D000326] (1348) |
|
|
Hyperaldosteronism [MESH:D006929] (419) |
|
|
Diabetes, Gestational [MESH:D016640] (1152) |
|
|
Diabetes Mellitus, Experimental [MESH:D003921] (4771) |
|
|
Diabetic Cardiomyopathies [MESH:D058065] (1995) |
|
|
Diabetic Nephropathies [MESH:D003928] (2301) |
|
|
Diabetic Neuropathies [MESH:D003929] (2443) |
|
|
Diabetic Retinopathy [MESH:D003930] (1371) |
|
|
Diabetes Mellitus, Insulin-Dependent, 12 [MESH:C563326] (23) |
|
|
Diabetes Mellitus, Insulin-Dependent, 10 [MESH:C566602] (88) |
|
|
Diabetes Mellitus, Insulin-Dependent, 22 [MESH:C567284] (72) |
|
|
Diabetes Mellitus, Insulin-Dependent, 20 [MESH:C567286] (49) |
|
|
Maturity-Onset Diabetes of the Young, Type 3 [MESH:C563933] (49) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
Laron Syndrome [MESH:D046150] (91) |
|
|
Short Stature, Idiopathic, Autosomal [MESH:C565805] (194) |
|
|
Thyroid Neoplasms [MESH:D013964] (2040) |
|
|
|
|
|
Adrenocortical Carcinoma [MESH:D018268] (821) |
|
|
Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143) |
|
|
Carcinoma, Pancreatic Ductal [MESH:D021441] (1056) |
|
|
Testicular Germ Cell Tumor [MESH:C563236] (176) |
|
|
Puberty, Delayed [MESH:D011628] (449) |
|
|
|
|
|
Adrenal Hyperplasia, Congenital [MESH:D000312] (674) |
|
|
|
|
|
Fertile eunuch syndrome [MESH:C537919] (49) |
|
|
|
|
|
Polycystic Ovary Syndrome [MESH:D011085] (2186) |
|
|
Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143) |
|
|
|
|
|
Carnevale syndrome [MESH:C535586] (45) |
|
|
Testicular Germ Cell Tumor [MESH:C563236] (176) |
|
|
|
|
|
Hyperparathyroidism, Secondary [MESH:D006962] (1138) |
|
|
Barakat syndrome [MESH:C537907] (71) |
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
|
|
|
|
|
|
Short Stature, Idiopathic, Autosomal [MESH:C565805] (194) |
|
|
Autoimmune polyendocrinopathy syndrome, type 1 [MESH:C538275] (6) |
|
|
Thyroid Neoplasms [MESH:D013964] (2040) |
|
|
Graves Disease [MESH:D006111] (278) |
|
|
Pendred syndrome [MESH:C536648] (35) |
|
|
Graves Disease [MESH:D006111] (278) |
|
|
Thyroid Dyshormonogenesis 3 [MESH:C562769] (46) |
|
|
|
|
|
Hashimoto Disease [MESH:D050031] (98) |
|
 |
C20. Immune System Diseases |
 |
 |
|
C20. Immune System Diseases |
|
|
Glomerulonephritis, Membranoproliferative [MESH:D015432] (770) |
|
|
Graft vs Host Disease [MESH:D006086] (674) |
|
|
Arthritis, Juvenile [MESH:D001171] (1060) |
|
|
Arthritis, Rheumatoid [MESH:D001172] (3601) |
|
|
Glomerulonephritis, IGA [MESH:D005922] (897) |
|
|
Graves Disease [MESH:D006111] (278) |
|
|
Hepatitis, Autoimmune [MESH:D019693] (1982) |
|
|
Lupus Erythematosus, Systemic [MESH:D008180] (2317) |
|
|
Pemphigus [MESH:D010392] (158) |
|
|
Thyroiditis, Autoimmune [MESH:D013967] (79) |
|
|
Aicardi-Goutieres syndrome [MESH:C535607] (57) |
|
|
|
|
|
Multiple Sclerosis, Relapsing-Remitting [MESH:D020529] (170) |
|
|
Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172) |
|
|
Diabetes Mellitus, Insulin-Dependent, 12 [MESH:C563326] (23) |
|
|
Diabetes Mellitus, Insulin-Dependent, 10 [MESH:C566602] (88) |
|
|
Diabetes Mellitus, Insulin-Dependent, 22 [MESH:C567284] (72) |
|
|
Diabetes Mellitus, Insulin-Dependent, 20 [MESH:C567286] (49) |
|
|
Autoimmune polyendocrinopathy syndrome, type 1 [MESH:C538275] (6) |
|
|
|
|
|
Hydrops Fetalis [MESH:D015160] (23) |
|
|
|
|
|
Drug Eruptions [MESH:D003875] (2695) |
|
|
Asthma, Nasal Polyps, And Aspirin Intolerance [MESH:C565935] (80) |
|
|
Dermatitis, Allergic Contact [MESH:D017449] (3241) |
|
|
Urticaria [MESH:D014581] (2668) |
|
|
Asthma, Nasal Polyps, And Aspirin Intolerance [MESH:C565935] (80) |
|
|
Dermatitis, Atopic, 4 [MESH:C565291] (130) |
|
|
Ige Responsiveness, Atopic [MESH:C564133] (267) |
|
|
Asthma [MESH:D001249] (3914) |
|
|
Allergic Rhinitis [MESH:C567078] (181) |
|
|
Purpura, Schoenlein-Henoch [MESH:D011695] (266) |
|
|
Griscelli syndrome type 2 [MESH:C537302] (30) |
|
|
Interleukin 2 Receptor, Alpha, Deficiency of [MESH:C565232] (88) |
|
|
Common Variable Immunodeficiency [MESH:D017074] (70) |
|
|
Lymphopenia [MESH:D008231] (990) |
|
|
Severe combined immunodeficiency due to adenosine deaminase deficiency [MESH:C531816] (67) |
|
|
Acquired Immunodeficiency Syndrome [MESH:D000163] (743) |
|
|
HIV Wasting Syndrome [MESH:D019247] (1956) |
|
|
Leukocyte Adhesion Deficiency, Type III [MESH:C567555] (12) |
|
|
Job Syndrome [MESH:D007589] (772) |
|
|
Severe combined immunodeficiency due to adenosine deaminase deficiency [MESH:C531816] (67) |
|
|
Reticular dysgenesis [MESH:C538361] (49) |
|
|
Bare Lymphocyte Syndrome, Type I [MESH:C565759] (101) |
|
|
|
|
|
Mevalonate Kinase Deficiency [MESH:D054078] (38) |
|
|
Giant Lymph Node Hyperplasia [MESH:D005871] (1013) |
|
|
Multiple Myeloma [MESH:D009101] (2767) |
|
|
|
|
|
Leukemia, Lymphocytic, Chronic, B-Cell [MESH:D015451] (2562) |
|
|
Leukemia-Lymphoma, Adult T-Cell [MESH:D015459] (138) |
|
|
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D015452] (354) |
|
|
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054218] (510) |
|
|
Lymphangioleiomyomatosis [MESH:D018192] (162) |
|
|
Hodgkin Disease [MESH:D006689] (1082) |
|
|
Burkitt Lymphoma [MESH:D002051] (691) |
|
|
Lymphoma, Follicular [MESH:D008224] (1025) |
|
|
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) |
|
|
Multiple Myeloma [MESH:D009101] (2765) |
|
|
Schnitzler Syndrome [MESH:D019873] (110) |
|
 |
C22. Animal Diseases |
 |
 |
|
C22. Animal Diseases |
|
|
Disease Models, Animal [MESH:D004195] (2058) |
|
|
Dog Diseases [MESH:D004283] (59) |
|
|
Hepatitis, Animal [MESH:D006520] (260) |
|
|
Mammary Neoplasms, Animal [MESH:D015674] (2735) |
|
|
Paratuberculosis [MESH:D010283] (427) |
|
|
Salmonella Infections, Animal [MESH:D012481] (604) |
|
|
Tuberculosis, Bovine [MESH:D014380] (380) |
|
 |
C23. Pathological Conditions, Signs and Symptoms |
 |
 |
|
C23. Pathological Conditions, Signs and Symptoms |
|
|
Atrophy [MESH:D001284] (2603) |
|
|
Plaque, Amyloid [MESH:D058225] (334) |
|
|
Plaque, Atherosclerotic [MESH:D058226] (696) |
|
|
Chudley-Mccullough syndrome [MESH:C535459] (45) |
|
|
Donnai-Barrow syndrome [MESH:C536390] (40) |
|
|
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78) |
|
|
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis [MESH:C567770] (35) |
|
|
Gallstones [MESH:D042882] (350) |
|
|
Megalencephalic leukoencephalopathy with subcortical cysts [MESH:C536141] (28) |
|
|
|
|
|
|
|
|
|
|
|
Oculodigitoesophagoduodenal syndrome [MESH:C537734] (58) |
|
|
|
|
|
Knobloch syndrome [MESH:C537209] (70) |
|
|
Congenital diaphragmatic hernia [MESH:C538080] (381) |
|
|
Hepatomegaly [MESH:D006529] (1169) |
|
|
Splenomegaly [MESH:D013163] (1258) |
|
|
Cantu syndrome [MESH:C535572] (42) |
|
|
Hypertrophy, Left Ventricular [MESH:D017379] (1430) |
|
|
Hypertrophy, Right Ventricular [MESH:D017380] (136) |
|
|
Witkop syndrome [MESH:C536736] (38) |
|
|
|
|
|
Colonic Polyps [MESH:D003111] (210) |
|
|
Asthma, Nasal Polyps, And Aspirin Intolerance [MESH:C565935] (80) |
|
|
Extravasation of Diagnostic and Therapeutic Materials [MESH:D005119] (506) |
|
|
Gliosis [MESH:D005911] (1419) |
|
|
Hyperammonemia [MESH:D022124] (322) |
|
|
Hyperbilirubinemia [MESH:D006932] (1860) |
|
|
Hyperplasia [MESH:D006965] (2463) |
|
|
Leukocytosis [MESH:D007964] (978) |
|
|
Muscle Weakness [MESH:D018908] (478) |
|
|
Necrosis [MESH:D009336] (4019) |
|
|
Nerve Degeneration [MESH:D009410] (4061) |
|
|
Sclerosis [MESH:D012598] (224) |
|
|
Ulcer [MESH:D014456] (392) |
|
|
Short QT Syndrome 2 [MESH:C566505] (45) |
|
|
Bradycardia [MESH:D001919] (1899) |
|
|
Atrial Fibrillation, Familial, 3 [MESH:C563817] (60) |
|
|
Ventricular Premature Complexes [MESH:D018879] (418) |
|
|
Romano-Ward Syndrome [MESH:D029597] (47) |
|
|
Tachycardia, Ventricular [MESH:D017180] (1386) |
|
|
Chromosomal Instability [MESH:D043171] (67) |
|
|
Chromosome Breakage [MESH:D019457] (139) |
|
|
Micronuclei, Chromosome-Defective [MESH:D048629] (1013) |
|
|
|
|
|
|
|
|
5q- syndrome [MESH:C535323] (131) |
|
|
Chromosome 3, monosomy 3p25 [MESH:C536807] (76) |
|
|
Disease Progression [MESH:D018450] (2868) |
|
|
Recurrence [MESH:D012008] (830) |
|
|
Genetic Predisposition to Disease [MESH:D020022] (966) |
|
|
Pitt-Hopkins syndrome [MESH:C537403] (113) |
|
|
Nephrogenic Fibrosing Dermopathy [MESH:D054989] (452) |
|
|
Keloid [MESH:D007627] (1110) |
|
|
Chromosomal Instability [MESH:D043171] (67) |
|
|
Granuloma, Plasma Cell [MESH:D006104] (58) |
|
|
Meier-Gorlin syndrome [MESH:C538012] (133) |
|
|
Fetal Growth Retardation [MESH:D005317] (986) |
|
|
Hematuria [MESH:D006417] (477) |
|
|
Shock, Hemorrhagic [MESH:D012771] (2042) |
|
|
|
|
|
Brain Small Vessel Disease with Hemorrhage [MESH:C564372] (77) |
|
|
|
|
|
Hematoma, Subdural, Acute [MESH:D020199] (63) |
|
|
|
|
|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type [MESH:C537944] (333) |
|
|
Hematoma, Subdural, Acute [MESH:D020199] (63) |
|
|
Purpura, Schoenlein-Henoch [MESH:D011695] (266) |
|
|
Purpura, Thrombotic Thrombocytopenic [MESH:D011697] (222) |
|
|
Neurogenic Inflammation [MESH:D020078] (2246) |
|
|
|
|
|
Shock, Septic [MESH:D012772] (1830) |
|
|
Endotoxemia [MESH:D019446] (1289) |
|
|
No-Reflow Phenomenon [MESH:D054318] (277) |
|
|
|
|
|
Choroidal Neovascularization [MESH:D020256] (550) |
|
|
Anaplasia [MESH:D000708] (348) |
|
|
Neoplasm Invasiveness [MESH:D009361] (3388) |
|
|
Neoplasm Recurrence, Local [MESH:D009364] (1949) |
|
|
Neoplasm, Residual [MESH:D018365] (478) |
|
|
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) |
|
|
Multiple Organ Failure [MESH:D009102] (1836) |
|
|
Shock, Hemorrhagic [MESH:D012771] (2042) |
|
|
Shock, Septic [MESH:D012772] (1830) |
|
|
Asthenia [MESH:D001247] (376) |
|
|
Chills [MESH:D023341] (644) |
|
|
Feminization [MESH:D005262] (655) |
|
|
Fever [MESH:D005334] (2856) |
|
|
Hypothermia [MESH:D007035] (2075) |
|
|
|
|
|
Weight Gain [MESH:D015430] (2595) |
|
|
|
|
|
Cachexia [MESH:D002100] (2283) |
|
|
|
|
|
Obesity, Morbid [MESH:D009767] (515) |
|
|
Hydrops Fetalis [MESH:D015160] (23) |
|
|
Reflex, Abnormal [MESH:D012021] (485) |
|
|
Sleep Disorders [MESH:D012893] (1301) |
|
|
Catalepsy [MESH:D002375] (1429) |
|
|
Hyperkinesis [MESH:D006948] (1799) |
|
|
Hypokinesia [MESH:D018476] (279) |
|
|
Arts syndrome [MESH:C535388] (31) |
|
|
Dysequilibrium syndrome [MESH:C535731] (83) |
|
|
Episodic Ataxia, Type 6 [MESH:C567207] (70) |
|
|
Lethargy [MESH:D053609] (1035) |
|
|
Learning Disorders [MESH:D007859] (2727) |
|
|
Language Development Disorders [MESH:D007805] (351) |
|
|
Arginine:Glycine Amidinotransferase Deficiency [MESH:C567192] (66) |
|
|
|
|
|
Amnesia, Retrograde [MESH:D000648] (53) |
|
|
Dysequilibrium syndrome [MESH:C535731] (83) |
|
|
Pitt-Hopkins syndrome [MESH:C537403] (113) |
|
|
Bohring syndrome [MESH:C537419] (26) |
|
|
Oculodigitoesophagoduodenal syndrome [MESH:C537734] (58) |
|
|
Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (85) |
|
|
Mental Retardation, Fra12a Type [MESH:C566980] (15) |
|
|
Arginine:Glycine Amidinotransferase Deficiency [MESH:C567192] (66) |
|
|
Mental Retardation, Autosomal Dominant 3 [MESH:C567241] (14) |
|
|
Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83) |
|
|
Phosphoserine Aminotransferase Deficiency [MESH:C567032] (85) |
|
|
Muscle Weakness [MESH:D018908] (478) |
|
|
Myotonia [MESH:D009222] (32) |
|
|
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps [MESH:C567088] (77) |
|
|
Muscle Rigidity [MESH:D009127] (617) |
|
|
Headache [MESH:D006261] (1417) |
|
|
Neuralgia [MESH:D009437] (2074) |
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Quadriplegia [MESH:D011782] (115) |
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Alternating hemiplegia of childhood [MESH:C536589] (70) |
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Familial porencephaly [MESH:C536850] (77) |
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Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 [MESH:C563575] (77) |
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Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 [MESH:C563750] (56) |
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Gaze Palsy, Familial Horizontal, with Progressive Scoliosis [MESH:C564593] (8) |
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Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83) |
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Phosphoserine Aminotransferase Deficiency [MESH:C567032] (85) |
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Lacrimoauriculodentodigital syndrome [MESH:C538132] (149) |
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Charcot-Marie-Tooth Disease, Demyelinating, Type 1e [MESH:C566136] (76) |
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Arts syndrome [MESH:C535388] (31) |
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Chudley-Mccullough syndrome [MESH:C535459] (45) |
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Donnai-Barrow syndrome [MESH:C536390] (40) |
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Pendred syndrome [MESH:C536648] (35) |
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Barakat syndrome [MESH:C537907] (71) |
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Deafness, Autosomal Recessive 12 [MESH:C563327] (46) |
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Deafness, X-Linked 1 [MESH:C564433] (31) |
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Deafness, Autosomal Dominant 20 [MESH:C565754] (69) |
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Hearing Loss, Noise-Induced [MESH:D006317] (134) |
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Optic atrophy polyneuropathy deafness [MESH:C537129] (31) |
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Hyperalgesia [MESH:D006930] (3929) |
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Paresthesia [MESH:D010292] (416) |
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Arts syndrome [MESH:C535388] (31) |
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Arthralgia [MESH:D018771] (191) |
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Headache [MESH:D006261] (1417) |
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Neuralgia [MESH:D009437] (2074) |
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Acute Coronary Syndrome [MESH:D054058] (2286) |
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Angina, Stable [MESH:D060050] (1702) |
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Anorexia [MESH:D000855] (854) |
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Diarrhea [MESH:D003967] (858) |
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Hyperphagia [MESH:D006963] (206) |
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Nausea [MESH:D009325] (2300) |
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Vomiting [MESH:D014839] (1354) |
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Anoxia [MESH:D000860] (1698) |
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Respiratory Sounds [MESH:D012135] (713) |
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Pitt-Hopkins syndrome [MESH:C537403] (113) |
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Purpura, Schoenlein-Henoch [MESH:D011695] (266) |
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Purpura, Thrombotic Thrombocytopenic [MESH:D011697] (222) |
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Hypomagnesemia primary [MESH:C537153] (35) |
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Donnai-Barrow syndrome [MESH:C536390] (40) |
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Albuminuria [MESH:D000419] (2394) |
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C24. Occupational Diseases |
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C24. Occupational Diseases |
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Not Fully Specified [NFS] (1530) |
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Berylliosis [MESH:D001607] (2005) |
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C25. Chemically-Induced Disorders |
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C25. Chemically-Induced Disorders |
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Drug-Induced Liver Injury [MESH:D056486] (4936) |
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Dyskinesia, Drug-Induced [MESH:D004409] (1389) |
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Drug Eruptions [MESH:D003875] (2697) |
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Asthma, Nasal Polyps, And Aspirin Intolerance [MESH:C565935] (80) |
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Arsenic Poisoning [MESH:D020261] (2540) |
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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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Psychoses, Substance-Induced [MESH:D011605] (2053) |
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Dyskinesia, Drug-Induced [MESH:D004409] (1389) |
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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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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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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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Extravasation of Diagnostic and Therapeutic Materials [MESH:D005119] (506) |
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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, Acute [MESH:D020199] (63) |
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Femoral Fractures [MESH:D005264] (137) |
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Fractures, Closed [MESH:D005596] (194) |
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Chilblain lupus [MESH:C535924] (37) |
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Femoral Fractures [MESH:D005264] (137) |
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Radiation Injuries, Experimental [MESH:D011833] (2662) |
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Aortic Rupture [MESH:D001019] (637) |
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Spinal Cord Compression [MESH:D013117] (1800) |
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Lung Injury [MESH:D055370] (1814) |
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Brain Injuries [MESH:D001930] (3431) |
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Hematoma, Subdural, Acute [MESH:D020199] (63) |
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D02. Organic Chemicals |
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D02. Organic Chemicals |
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Phthalic Anhydrides [MESH:D010796] (26) |
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Phthalic Anhydrides [MESH:D010796] (26) |
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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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Pitt-Hopkins syndrome [MESH:C537403] (113) |
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F. Psychiatry and Psychology |
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F. Psychiatry and Psychology |
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Dysequilibrium syndrome [MESH:C535731] (83) |
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Pitt-Hopkins syndrome [MESH:C537403] (113) |
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Bohring syndrome [MESH:C537419] (26) |
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Oculodigitoesophagoduodenal syndrome [MESH:C537734] (58) |
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Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (85) |
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Mental Retardation, Fra12a Type [MESH:C566980] (15) |
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Arginine:Glycine Amidinotransferase Deficiency [MESH:C567192] (66) |
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Mental Retardation, Autosomal Dominant 3 [MESH:C567241] (14) |
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Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83) |
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Phosphoserine Aminotransferase Deficiency [MESH:C567032] (85) |
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Alzheimer disease type 2 [MESH:C536595] (165) |
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Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia [MESH:C563476] (57) |
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Malpuech facial clefting syndrome [MESH:C535704] (45) |
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Arginine:Glycine Amidinotransferase Deficiency [MESH:C567192] (66) |
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Dysequilibrium syndrome [MESH:C535731] (83) |
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Pitt-Hopkins syndrome [MESH:C537403] (113) |
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Bohring syndrome [MESH:C537419] (26) |
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Oculodigitoesophagoduodenal syndrome [MESH:C537734] (58) |
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Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (85) |
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Mental Retardation, Fra12a Type [MESH:C566980] (15) |
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Arginine:Glycine Amidinotransferase Deficiency [MESH:C567192] (66) |
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Mental Retardation, Autosomal Dominant 3 [MESH:C567241] (14) |
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G. Phenomena and Processes |
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G. Phenomena and Processes |
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5q- syndrome [MESH:C535323] (131) |
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Chromosome 3, monosomy 3p25 [MESH:C536807] (76) |
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Chromosome 3, monosomy 3p25 [MESH:C536807] (76) |
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5q- syndrome [MESH:C535323] (131) |
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5q- syndrome [MESH:C535323] (131) |
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Chromosome 3, monosomy 3p25 [MESH:C536807] (76) |
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5q- syndrome [MESH:C535323] (131) |
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Chromosome 3, monosomy 3p25 [MESH:C536807] (76) |
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Mosaic variegated aneuploidy syndrome [MESH:C536987] (95) |
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5q- syndrome [MESH:C535323] (131) |
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Chromosome 3, monosomy 3p25 [MESH:C536807] (76) |
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5q- syndrome [MESH:C535323] (131) |
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Chromosome 3, monosomy 3p25 [MESH:C536807] (76) |
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