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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ATP-binding cassette, sub-family C (CFTR/MRP), member 1 [HGNC:ABCC1] (177) |
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transcription factor 03 [HGNC:TCF3] (21) |
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colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) [HGNC:CSF2RB] (11) |
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integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) [HGNC:ITGA2B] (24) |
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integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) [HGNC:ITGAL] (26) |
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intercellular adhesion molecule 1 [HGNC:ICAM1] (286) |
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interleukin 02 receptor, alpha [HGNC:IL2RA] (45) |
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selectin L [HGNC:SELL] (43) |
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cytochrome P450, family 01, subfamily A, polypeptide 01 [HGNC:CYP1A1] (566) |
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cytochrome P450, family 19, subfamily A, polypeptide 01 [HGNC:CYP19A1] (210) |
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colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) [HGNC:CSF2RB] (11) |
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glutathione S-transferase pi 1 [HGNC:GSTP1] (218) |
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heat shock 60kDa protein 01 (chaperonin) [HGNC:HSPD1] (66) |
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homeobox D03 [HGNC:HOXD3] (8) |
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intercellular adhesion molecule 1 [HGNC:ICAM1] (286) |
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integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) [HGNC:ITGA2B] (24) |
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integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) [HGNC:ITGAL] (26) |
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interleukin 02 receptor, alpha [HGNC:IL2RA] (45) |
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interleukin 04 [HGNC:IL4] (164) |
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interleukin 10 [HGNC:IL10] (187) |
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mitogen-activated protein kinase kinase 1 [HGNC:MAP2K1] (106) |
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estrogen receptor 1 [HGNC:ESR1] (506) |
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peroxisome proliferator-activated receptor gamma, coactivator 1 alpha [HGNC:PPARGC1A] (87) |
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ribosomal protein L06 [HGNC:RPL6] (22) |
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signal transducer and activator of transcription 1, 91kDa [HGNC:STAT1] (108) |
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signal transducer and activator of transcription 6, interleukin-4 induced [HGNC:STAT6] (32) |
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solute carrier family 20 (phosphate transporter), member 01 [HGNC:SLC20A1] (30) |
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sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 [HGNC:SULT1A1] (105) |
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UDP glucuronosyltransferase 1 family, polypeptide A1 [HGNC:UGT1A1] (167) |
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2. Interaction: Human Genes and Chemicals |
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2. Interaction: Human Genes and Chemicals |
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binding (2423) |
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localization (731) |
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sulfation (13) |
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activity (2549) |
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expression (2187) |
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reaction (3393) |
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activity (2865) |
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cleavage (666) |
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expression (3238) |
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oxidation (295) |
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reaction (1574) |
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sulfation (74) |
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A. Anatomy |
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A. Anatomy |
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Rosselli-Gulienetti Syndrome [MESH:C563117] (25) |
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Rosselli-Gulienetti Syndrome [MESH:C563117] (25) |
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Cutis Gyrata Syndrome of Beare And Stevenson [MESH:C565129] (85) |
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Microtia, Hearing Impairment, And Cleft Palate [MESH:C567359] (30) |
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VATER association [MESH:C536534] (46) |
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Mandibuloacral dysplasia with type A lipodystrophy [MESH:C535705] (490) |
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VATER association [MESH:C536534] (46) |
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Currarino triad [MESH:C536221] (47) |
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Currarino triad [MESH:C536221] (47) |
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Currarino triad [MESH:C536221] (47) |
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Currarino triad [MESH:C536221] (47) |
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Currarino triad [MESH:C536221] (47) |
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Aplasia of Lacrimal and Salivary Glands [MESH:C562407] (42) |
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VATER association [MESH:C536534] (46) |
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Pancreatic Agenesis, Congenital [MESH:C564908] (44) |
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VATER association [MESH:C536534] (46) |
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Allanson Pantzar McLeod syndrome [MESH:C537048] (503) |
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Capillary Malformation-Arteriovenous Malformation [MESH:C564254] (50) |
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Short QT Syndrome 1 [MESH:C566506] (189) |
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Aortic Valve, Calcification of [MESH:C562942] (655) |
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Cutis Gyrata Syndrome of Beare And Stevenson [MESH:C565129] (85) |
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Microtia, Hearing Impairment, And Cleft Palate [MESH:C567359] (30) |
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Aplasia of Lacrimal and Salivary Glands [MESH:C562407] (42) |
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Atrichia with Papular Lesions [MESH:C565924] (23) |
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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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Chromosome 3, monosomy 3p25 [MESH:C536807] (76) |
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Chromosome 17 deletion [MESH:C538045] (769) |
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Hypotonia-Cystinuria Syndrome [MESH:C564710] (52) |
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Mandibuloacral dysplasia with type A lipodystrophy [MESH:C535705] (490) |
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Single upper central incisor [MESH:C537342] (50) |
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Aplasia of Lacrimal and Salivary Glands [MESH:C562407] (42) |
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Atrichia with Papular Lesions [MESH:C565924] (23) |
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Atrichia with Papular Lesions [MESH:C565924] (23) |
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C01. Bacterial Infections and Mycoses |
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C01. Bacterial Infections and Mycoses |
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Mycoplasma Infections [MESH:D009175] (1947) |
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Meningococcal Infections [MESH:D008589] (242) |
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Leprosy [MESH:D007918] (261) |
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Mycobacterium Infections, Nontuberculous [MESH:D009165] (480) |
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Tuberculosis, Bovine [MESH:D014380] (380) |
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Tuberculosis, Pulmonary [MESH:D014397] (678) |
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Urinary Tract Infections [MESH:D014552] (984) |
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Appendicitis [MESH:D001064] (774) |
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AIDS-related Kaposi sarcoma [MESH:C554498] (914) |
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Shock, Septic [MESH:D012772] (1830) |
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Endotoxemia [MESH:D019446] (1289) |
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Candidiasis, Chronic Mucocutaneous [MESH:D002178] (224) |
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Endotoxemia [MESH:D019446] (1289) |
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Candidiasis, Chronic Mucocutaneous [MESH:D002178] (224) |
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Candidiasis, Chronic Mucocutaneous [MESH:D002178] (224) |
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C02. Virus Diseases |
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C02. Virus Diseases |
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Pneumonia, Viral [MESH:D011024] (125) |
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Meningitis, Aseptic [MESH:D008582] (1305) |
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Cytomegalovirus Infections [MESH:D003586] (222) |
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Burkitt Lymphoma [MESH:D002051] (691) |
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AIDS-related Kaposi sarcoma [MESH:C554498] (914) |
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WHIM syndrome [MESH:C536697] (148) |
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Hepatitis C [MESH:D006526] (1627) |
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Meningitis, Aseptic [MESH:D008582] (1305) |
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AIDS-related Kaposi sarcoma [MESH:C554498] (914) |
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Hepatitis C [MESH:D006526] (1627) |
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Respiratory Syncytial Virus Infections [MESH:D018357] (852) |
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Severe Acute Respiratory Syndrome [MESH:D045169] (127) |
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Influenza, Human [MESH:D007251] (1075) |
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Coxsackievirus Infections [MESH:D003384] (194) |
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HIV Seropositivity [MESH:D006679] (480) |
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AIDS-related Kaposi sarcoma [MESH:C554498] (914) |
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HIV Seropositivity [MESH:D006679] (480) |
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WHIM syndrome [MESH:C536697] (148) |
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Burkitt Lymphoma [MESH:D002051] (691) |
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WHIM syndrome [MESH:C536697] (148) |
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C03. Parasitic Diseases |
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C03. Parasitic Diseases |
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Liver Diseases, Parasitic [MESH:D008109] (1009) |
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Schistosomiasis mansoni [MESH:D012555] (1033) |
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AIDS-related Kaposi sarcoma [MESH:C554498] (914) |
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Malaria [MESH:D008288] (2175) |
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Entamoebiasis [MESH:D004749] (1689) |
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Leishmaniasis, Cutaneous [MESH:D016773] (2359) |
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Leishmaniasis, Visceral [MESH:D007898] (2149) |
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Leishmaniasis, Cutaneous [MESH:D016773] (2359) |
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C04. Neoplasms |
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C04. Neoplasms |
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Precancerous Conditions [MESH:D011230] (2858) |
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Follicular Cyst [MESH:D005497] (151) |
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Basal Cell Nevus Syndrome [MESH:D001478] (67) |
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Polycystic Ovary Syndrome [MESH:D011085] (2186) |
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Hamartoma Syndrome, Multiple [MESH:D006223] (262) |
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Leukemia, T-Cell [MESH:D015458] (395) |
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Leukemia, Lymphocytic, Chronic, B-Cell [MESH:D015451] (2562) |
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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, 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, Mantle-Cell [MESH:D020522] (561) |
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Burkitt Lymphoma [MESH:D002051] (691) |
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Lymphoma, AIDS-Related [MESH:D016483] (278) |
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Lymphoma, Large B-Cell, Diffuse [MESH:D016403] (2012) |
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Lymphoma, T-Cell, Cutaneous [MESH:D016410] (912) |
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Carcinosarcoma [MESH:D002296] (581) |
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Denys-Drash Syndrome [MESH:D030321] (57) |
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WAGR Syndrome [MESH:D017624] (270) |
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Liposarcoma, Myxoid [MESH:D018208] (358) |
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Sarcoma, Synovial [MESH:D013584] (993) |
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Chondrosarcoma, Mesenchymal [MESH:D018211] (1161) |
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Carney Complex Variant [MESH:C563845] (10) |
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Osteosarcoma [MESH:D012516] (2175) |
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Solitary Fibrous Tumors [MESH:D054364] (79) |
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Neurofibrosarcoma [MESH:D018319] (44) |
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Leiomyoma [MESH:D007889] (744) |
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Rhabdomyosarcoma [MESH:D012208] (789) |
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Lymphangioleiomyomatosis [MESH:D018192] (162) |
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Carcinosarcoma [MESH:D002296] (581) |
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Hemangiosarcoma [MESH:D006394] (1836) |
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Osteosarcoma [MESH:D012516] (2175) |
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Sarcoma, Synovial [MESH:D013584] (993) |
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Chondrosarcoma, Mesenchymal [MESH:D018211] (1161) |
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Neurofibrosarcoma [MESH:D018319] (44) |
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Liposarcoma, Myxoid [MESH:D018208] (358) |
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Rhabdomyosarcoma [MESH:D012208] (789) |
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AIDS-related Kaposi sarcoma [MESH:C554498] (914) |
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Retinoblastoma [MESH:D012175] (319) |
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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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Pheochromocytoma [MESH:D010673] (275) |
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Ovarian epithelial cancer [MESH:C538090] (57) |
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ACTH-Secreting Pituitary Adenoma [MESH:D049913] (169) |
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Growth Hormone-Secreting Pituitary Adenoma [MESH:D049912] (383) |
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Mesothelioma [MESH:D008654] (2567) |
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Prolactinoma [MESH:D015175] (312) |
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Pancreatic cancer, adult [MESH:C535836] (572) |
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Thyroid cancer, papillary [MESH:C536915] (111) |
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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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Adenocarcinoma Of Esophagus [MESH:C562730] (1530) |
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Adenocarcinoma, Clear Cell [MESH:D018262] (1291) |
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Carcinoma, Adenoid Cystic [MESH:D003528] (1561) |
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Carcinoma, Hepatocellular [MESH:D006528] (5375) |
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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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Thyroid cancer, follicular [MESH:C572845] (674) |
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Adrenocortical Carcinoma, Hereditary [MESH:C565972] (769) |
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Carcinoma, Pancreatic Ductal [MESH:D021441] (1056) |
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Basal Cell Nevus Syndrome [MESH:D001478] (67) |
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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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Basal Cell Nevus Syndrome [MESH:D001478] (67) |
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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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Retinoblastoma [MESH:D012175] (319) |
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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 [MESH:D008579] (978) |
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Neurofibrosarcoma [MESH:D018319] (44) |
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Neurofibrosarcoma [MESH:D018319] (44) |
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Retinoblastoma [MESH:D012175] (319) |
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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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Pheochromocytoma [MESH:D010673] (275) |
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Multiple Myeloma [MESH:D009101] (2767) |
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Hemangiosarcoma [MESH:D006394] (1836) |
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Meningioma [MESH:D008579] (978) |
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Sturge-Weber Syndrome [MESH:D013341] (76) |
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AIDS-related Kaposi sarcoma [MESH:C554498] (914) |
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Melanoma [MESH:D008545] (3508) |
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Bone Neoplasms [MESH:D001859] (1334) |
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Soft Tissue Neoplasms [MESH:D012983] (2003) |
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Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143) |
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Gallbladder Neoplasms [MESH:D005706] (993) |
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Stomach Neoplasms [MESH:D013274] (4942) |
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Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396) |
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Adenocarcinoma Of Esophagus [MESH:C562730] (1530) |
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Cecal Neoplasms [MESH:D002430] (822) |
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Colonic Neoplasms [MESH:D003110] (4405) |
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Rectal Neoplasms [MESH:D012004] (717) |
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Carcinoma, Hepatocellular [MESH:D006528] (5375) |
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Liver Neoplasms, Experimental [MESH:D008114] (2837) |
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Pancreatic cancer, adult [MESH:C535836] (572) |
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Carcinoma, Pancreatic Ductal [MESH:D021441] (1056) |
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Testicular Neoplasms [MESH:D013736] (520) |
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Adrenocortical Carcinoma, Hereditary [MESH:C565972] (769) |
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Ovarian epithelial cancer [MESH:C538090] (57) |
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Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143) |
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Pancreatic cancer, adult [MESH:C535836] (572) |
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Carcinoma, Pancreatic Ductal [MESH:D021441] (1056) |
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ACTH-Secreting Pituitary Adenoma [MESH:D049913] (172) |
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Growth Hormone-Secreting Pituitary Adenoma [MESH:D049912] (383) |
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Prolactinoma [MESH:D015175] (312) |
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Thyroid cancer, papillary [MESH:C536915] (111) |
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Retinoblastoma [MESH:D012175] (319) |
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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) |
|
|
Adenocarcinoma Of Esophagus [MESH:C562730] (1530) |
|
|
Salivary Gland Neoplasms [MESH:D012468] (968) |
|
|
|
|
|
|
|
|
Nasopharyngeal carcinoma [MESH:C538339] (1198) |
|
|
Thyroid cancer, papillary [MESH:C536915] (111) |
|
|
Mammary Neoplasms, Experimental [MESH:D008325] (3268) |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Papilloma, Choroid Plexus [MESH:D020288] (769) |
|
|
|
|
|
Pituitary Neoplasms [MESH:D010911] (914) |
|
|
Meningioma [MESH:D008579] (978) |
|
|
Sebaceous Gland Neoplasms [MESH:D012626] (154) |
|
|
|
|
|
|
|
|
Carney Complex Variant [MESH:C563845] (10) |
|
|
|
|
|
Adenocarcinoma of lung [MESH:C538231] (1487) |
|
|
|
|
|
Carcinoma, Non-Small-Cell Lung [MESH:D002289] (3540) |
|
|
Small Cell Lung Carcinoma [MESH:D055752] (1380) |
|
|
|
|
|
|
|
|
Endometrial Neoplasms [MESH:D016889] (1987) |
|
|
Penile Neoplasms [MESH:D010412] (890) |
|
|
Testicular Neoplasms [MESH:D013736] (520) |
|
|
Prostate Cancer, Hereditary, 13 [MESH:C567456] (35) |
|
|
Ureteral Neoplasms [MESH:D014516] (574) |
|
|
Urinary Bladder Neoplasms [MESH:D001749] (4079) |
|
|
Carcinoma, Renal Cell [MESH:D002292] (2975) |
|
|
Denys-Drash Syndrome [MESH:D030321] (57) |
|
|
WAGR Syndrome [MESH:D017624] (270) |
|
|
Liver Neoplasms, Experimental [MESH:D008114] (2837) |
|
|
Mammary Neoplasms, Experimental [MESH:D008325] (3268) |
|
|
|
|
|
Burkitt Lymphoma [MESH:D002051] (691) |
|
|
Hamartoma Syndrome, Multiple [MESH:D006223] (262) |
|
|
Neoplasm Invasiveness [MESH:D009361] (3388) |
|
|
Neoplasm Metastasis [MESH:D009362] (4441) |
|
|
Neoplasm Recurrence, Local [MESH:D009364] (1949) |
|
|
Neoplasm, Residual [MESH:D018365] (478) |
|
|
Cell Transformation, Neoplastic [MESH:D002471] (3389) |
|
|
Basal Cell Nevus Syndrome [MESH:D001478] (67) |
|
|
Hamartoma Syndrome, Multiple [MESH:D006223] (260) |
|
|
Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143) |
|
|
Li-Fraumeni Syndrome [MESH:D016864] (859) |
|
|
Denys-Drash Syndrome [MESH:D030321] (57) |
|
|
WAGR Syndrome [MESH:D017624] (270) |
|
|
|
|
|
Burkitt Lymphoma [MESH:D002051] (691) |
|
|
WHIM syndrome [MESH:C536697] (148) |
|
 |
C05. Musculoskeletal Diseases |
 |
 |
|
C05. Musculoskeletal Diseases |
|
|
|
|
|
Bone Neoplasms [MESH:D001859] (1334) |
|
|
Osteitis Deformans [MESH:D010001] (287) |
|
|
Acromicric dysplasia [MESH:C535662] (520) |
|
|
Basal Cell Nevus Syndrome [MESH:D001478] (67) |
|
|
Marfan Syndrome [MESH:D008382] (646) |
|
|
Mandibuloacral dysplasia with type A lipodystrophy [MESH:C535705] (490) |
|
|
Keratosis palmoplantaris with periodontopathia and onychogryposis [MESH:C537627] (73) |
|
|
Parastremmatic dwarfism [MESH:C537172] (39) |
|
|
Metatropic dwarfism [MESH:C537356] (39) |
|
|
Isolated Growth Hormone Deficiency, Type IB [MESH:C567564] (140) |
|
|
Hypothyroidism, Congenital, Nongoitrous, 2 [MESH:C566852] (30) |
|
|
Craniofacial Dysostosis [MESH:D003394] (391) |
|
|
Antley-Bixler Syndrome Phenotype [MESH:D054882] (284) |
|
|
Jackson-Weiss syndrome [MESH:C537559] (149) |
|
|
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) |
|
|
Zlotogora-Ogur syndrome [MESH:C536726] (25) |
|
|
Lacrimoauriculodentodigital syndrome [MESH:C538132] (149) |
|
|
Rosselli-Gulienetti Syndrome [MESH:C563117] (25) |
|
|
Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149) |
|
|
Spondylometaphyseal dysplasia, Kozlowski type [MESH:C535797] (118) |
|
|
Metatropic dwarfism [MESH:C537356] (39) |
|
|
Brachyolmia Type 3 [MESH:C562963] (39) |
|
|
Metaphyseal Anadysplasia 2 [MESH:C567771] (452) |
|
|
Camurati-Engelmann Syndrome [MESH:D003966] (492) |
|
|
Cleidocranial Dysplasia [MESH:D002973] (129) |
|
|
|
|
|
Rhizomelic chondrodysplasia punctata, type 3 [MESH:C537608] (26) |
|
|
Fibrous Dysplasia, Polyostotic [MESH:D005359] (82) |
|
|
Osteogenesis imperfecta, type 2A [MESH:C536042] (375) |
|
|
Osteogenesis imperfecta, type 3 [MESH:C536044] (375) |
|
|
Osteogenesis imperfecta, type 4 [MESH:C536045] (375) |
|
|
Osteogenesis Imperfecta, Type IX [MESH:C564921] (46) |
|
|
Acromegaly [MESH:D000172] (466) |
|
|
Hypothyroidism, Congenital, Nongoitrous, 2 [MESH:C566852] (30) |
|
|
Osseous Heteroplasia, Progressive [MESH:C562735] (82) |
|
|
Osteoporosis, Postmenopausal [MESH:D015663] (2351) |
|
|
Albright's hereditary osteodystrophy [MESH:C537045] (82) |
|
|
Pseudohypoparathyroidism Type 1B [MESH:C548075] (82) |
|
|
Pseudopseudohypoparathyroidism [MESH:D011556] (82) |
|
|
|
|
|
|
|
|
Vitamin D Hydroxylation-Deficient Rickets, Type 1A [MESH:C562688] (58) |
|
|
Hypophosphatemic Rickets, Autosomal Recessive, 2 [MESH:C567647] (48) |
|
|
|
|
|
|
|
|
Mandibuloacral dysplasia with type A lipodystrophy [MESH:C535705] (490) |
|
|
Keratosis palmoplantaris with periodontopathia and onychogryposis [MESH:C537627] (73) |
|
|
|
|
|
Intervertebral disc disease [MESH:C535531] (514) |
|
|
Intervertebral disc disease [MESH:C535531] (514) |
|
|
Ossification of the posterior longitudinal ligament of the spine [MESH:C537143] (98) |
|
|
|
|
|
Parastremmatic dwarfism [MESH:C537172] (39) |
|
|
Parastremmatic dwarfism [MESH:C537172] (39) |
|
|
|
|
|
|
|
|
Arthritis, Psoriatic [MESH:D015535] (1859) |
|
|
Spondylitis, Ankylosing [MESH:D013167] (431) |
|
|
|
|
|
Jackson-Weiss syndrome [MESH:C537559] (149) |
|
|
|
|
|
|
|
|
Zlotogora-Ogur syndrome [MESH:C536726] (25) |
|
|
Bamforth syndrome [MESH:C537901] (186) |
|
|
Rosselli-Gulienetti Syndrome [MESH:C563117] (25) |
|
|
Orofacial Cleft 5 [MESH:C563843] (38) |
|
|
Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65) |
|
|
Microtia, Hearing Impairment, And Cleft Palate [MESH:C567359] (30) |
|
|
Orofacial Cleft 11 [MESH:C567410] (101) |
|
|
|
|
|
Basal Cell Nevus Syndrome [MESH:D001478] (67) |
|
|
|
|
|
Craniometaphyseal Dysplasia, Autosomal Dominant [MESH:C565145] (20) |
|
|
Arthralgia [MESH:D018771] (191) |
|
|
Spondylitis, Ankylosing [MESH:D013167] (431) |
|
|
Arthritis, Experimental [MESH:D001169] (3142) |
|
|
Arthritis, Juvenile [MESH:D001171] (1060) |
|
|
Arthritis, Psoriatic [MESH:D015535] (1859) |
|
|
Arthritis, Rheumatoid [MESH:D001172] (3603) |
|
|
Osteoarthritis [MESH:D010003] (1743) |
|
|
Chondrocalcinosis 2 [MESH:C563162] (20) |
|
|
|
|
|
Arthritis, Psoriatic [MESH:D015535] (1859) |
|
|
Spondylitis, Ankylosing [MESH:D013167] (431) |
|
|
Arthrogryposis renal dysfunction cholestasis syndrome [MESH:C535382] (23) |
|
|
Hecht syndrome [MESH:C535857] (10) |
|
|
Distal arthrogryposis type 2B [MESH:C538400] (85) |
|
|
VLCAD deficiency [MESH:C536353] (55) |
|
|
Systemic carnitine deficiency [MESH:C536778] (92) |
|
|
Myopathy, Myosin Storage [MESH:C564253] (77) |
|
|
Muscle Rigidity [MESH:D009127] (617) |
|
|
Muscle Weakness [MESH:D018908] (478) |
|
|
Arthrogryposis renal dysfunction cholestasis syndrome [MESH:C535382] (23) |
|
|
Hecht syndrome [MESH:C535857] (10) |
|
|
Distal arthrogryposis type 2B [MESH:C538400] (85) |
|
|
Craniometaphyseal Dysplasia, Autosomal Dominant [MESH:C565145] (20) |
|
|
|
|
|
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency [MESH:C567709] (41) |
|
|
Glycogen Storage Disease Type VII [MESH:D006014] (37) |
|
|
Muscular Dystrophy, Duchenne [MESH:D020388] (942) |
|
|
Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854) |
|
|
Distal myopathy, Nonaka type [MESH:C536816] (40) |
|
|
Limb-girdle muscular dystrophy type 2A [MESH:C535895] (14) |
|
|
Polymyositis [MESH:D017285] (2007) |
|
|
Inclusion body myopathy autosomal recessive [MESH:C538329] (40) |
|
|
|
|
|
Arthrogryposis renal dysfunction cholestasis syndrome [MESH:C535382] (23) |
|
|
Hecht syndrome [MESH:C535857] (10) |
|
|
Distal arthrogryposis type 2B [MESH:C538400] (85) |
|
|
Hypotonia-Cystinuria Syndrome [MESH:C564710] (52) |
|
|
Cleidocranial Dysplasia [MESH:D002973] (129) |
|
|
Costello Syndrome [MESH:D056685] (407) |
|
|
Craniofacial Dysostosis [MESH:D003394] (391) |
|
|
Microcephaly [MESH:D008831] (700) |
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Jackson-Weiss syndrome [MESH:C537559] (149) |
|
|
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) |
|
|
Holoprosencephaly 7 [MESH:C563660] (46) |
|
|
Holoprosencephaly 3 [MESH:C564181] (50) |
|
|
LEOPARD syndrome, 2 [MESH:C537117] (169) |
|
|
|
|
|
|
|
|
Zlotogora-Ogur syndrome [MESH:C536726] (25) |
|
|
Bamforth syndrome [MESH:C537901] (186) |
|
|
Rosselli-Gulienetti Syndrome [MESH:C563117] (25) |
|
|
Orofacial Cleft 5 [MESH:C563843] (38) |
|
|
Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65) |
|
|
Microtia, Hearing Impairment, And Cleft Palate [MESH:C567359] (30) |
|
|
Orofacial Cleft 11 [MESH:C567410] (101) |
|
|
Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (85) |
|
|
Noonan Syndrome 5 [MESH:C548083] (169) |
|
|
Noonan Syndrome 6 [MESH:C548084] (44) |
|
|
Plagiocephaly, Nonsynostotic [MESH:D049068] (85) |
|
|
Jackson-Weiss syndrome [MESH:C537559] (149) |
|
|
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) |
|
|
Acromicric dysplasia [MESH:C535662] (520) |
|
|
Microphthalmia, Syndromic 6 [MESH:C566440] (101) |
|
|
Metaphyseal Anadysplasia 2 [MESH:C567771] (452) |
|
|
Brachydactyly [MESH:D059327] (220) |
|
|
|
|
|
Jackson-Weiss syndrome [MESH:C537559] (149) |
|
|
Zlotogora-Ogur syndrome [MESH:C536726] (25) |
|
|
Lacrimoauriculodentodigital syndrome [MESH:C538132] (149) |
|
|
Rosselli-Gulienetti Syndrome [MESH:C563117] (25) |
|
|
Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149) |
|
|
Antley-Bixler Syndrome Phenotype [MESH:D054882] (284) |
|
|
Jackson-Weiss syndrome [MESH:C537559] (149) |
|
|
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) |
|
|
Zlotogora-Ogur syndrome [MESH:C536726] (25) |
|
|
Lacrimoauriculodentodigital syndrome [MESH:C538132] (149) |
|
|
Rosselli-Gulienetti Syndrome [MESH:C563117] (25) |
|
|
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 |
|
|
|
|
|
|
|
|
|
|
|
Arthrogryposis renal dysfunction cholestasis syndrome [MESH:C535382] (23) |
|
|
Alagille Syndrome [MESH:D016738] (105) |
|
|
Liver Cirrhosis, Biliary [MESH:D008105] (1274) |
|
|
Gallbladder Neoplasms [MESH:D005706] (993) |
|
|
Gallstones [MESH:D042882] (350) |
|
|
Gallbladder Neoplasms [MESH:D005706] (993) |
|
|
Gallstones [MESH:D042882] (350) |
|
|
Currarino triad [MESH:C536221] (47) |
|
|
Hirschsprung Disease [MESH:D006627] (361) |
|
|
VATER association [MESH:C536534] (46) |
|
|
|
|
|
Tracheoesophageal Fistula [MESH:D014138] (88) |
|
|
|
|
|
Gallbladder Neoplasms [MESH:D005706] (993) |
|
|
Stomach Neoplasms [MESH:D013274] (4942) |
|
|
Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396) |
|
|
Adenocarcinoma Of Esophagus [MESH:C562730] (1530) |
|
|
Cecal Neoplasms [MESH:D002430] (822) |
|
|
Colonic Neoplasms [MESH:D003110] (4405) |
|
|
Rectal Neoplasms [MESH:D012004] (717) |
|
|
Carcinoma, Hepatocellular [MESH:D006528] (5375) |
|
|
Liver Neoplasms, Experimental [MESH:D008114] (2837) |
|
|
Pancreatic cancer, adult [MESH:C535836] (572) |
|
|
Carcinoma, Pancreatic Ductal [MESH:D021441] (1056) |
|
|
Gastrointestinal Hemorrhage [MESH:D006471] (815) |
|
|
|
|
|
Tracheoesophageal Fistula [MESH:D014138] (88) |
|
|
Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396) |
|
|
Adenocarcinoma Of Esophagus [MESH:C562730] (1530) |
|
|
Appendicitis [MESH:D001064] (774) |
|
|
Mucositis [MESH:D052016] (1238) |
|
|
Colitis, Ulcerative [MESH:D003093] (2601) |
|
|
Ileitis [MESH:D007079] (137) |
|
|
Enterocolitis, Necrotizing [MESH:D020345] (1367) |
|
|
Colitis, Ulcerative [MESH:D003093] (2601) |
|
|
Crohn Disease [MESH:D003424] (2585) |
|
|
Stomach Neoplasms [MESH:D013274] (4942) |
|
|
Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396) |
|
|
Adenocarcinoma Of Esophagus [MESH:C562730] (1530) |
|
|
Cecal Neoplasms [MESH:D002430] (822) |
|
|
Colonic Neoplasms [MESH:D003110] (4405) |
|
|
Rectal Neoplasms [MESH:D012004] (717) |
|
|
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) |
|
|
Colonic Neoplasms [MESH:D003110] (4405) |
|
|
Hirschsprung Disease [MESH:D006627] (361) |
|
|
|
|
|
Duodenal Ulcer [MESH:D004381] (1549) |
|
|
Ileitis [MESH:D007079] (137) |
|
|
Enterocolitis, Necrotizing [MESH:D020345] (1367) |
|
|
Ileitis [MESH:D007079] (137) |
|
|
Colitis, Ulcerative [MESH:D003093] (2601) |
|
|
Crohn Disease [MESH:D003424] (2585) |
|
|
Cecal Neoplasms [MESH:D002430] (822) |
|
|
Colonic Neoplasms [MESH:D003110] (4405) |
|
|
Rectal Neoplasms [MESH:D012004] (717) |
|
|
Celiac Disease [MESH:D002446] (340) |
|
|
|
|
|
Rectal Neoplasms [MESH:D012004] (717) |
|
|
Duodenal Ulcer [MESH:D004381] (1549) |
|
|
Stomach Ulcer [MESH:D013276] (2915) |
|
|
Stomach Neoplasms [MESH:D013274] (4942) |
|
|
Stomach Ulcer [MESH:D013276] (2915) |
|
|
Drug-Induced Liver Injury [MESH:D056486] (4936) |
|
|
Liver Diseases, Parasitic [MESH:D008109] (1009) |
|
|
Zellweger Syndrome [MESH:D015211] (182) |
|
|
Alagille Syndrome [MESH:D016738] (105) |
|
|
Liver Cirrhosis, Biliary [MESH:D008105] (1274) |
|
|
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, Autoimmune [MESH:D019693] (1982) |
|
|
Hepatitis C [MESH:D006526] (1627) |
|
|
Liver Cirrhosis, Alcoholic [MESH:D008104] (3066) |
|
|
Liver Cirrhosis, Biliary [MESH:D008105] (1274) |
|
|
Liver Cirrhosis, Experimental [MESH:D008106] (4589) |
|
|
Hepatitis, Alcoholic [MESH:D006519] (1613) |
|
|
Liver Cirrhosis, Alcoholic [MESH:D008104] (3066) |
|
|
Carcinoma, Hepatocellular [MESH:D006528] (5375) |
|
|
Liver Neoplasms, Experimental [MESH:D008114] (2837) |
|
|
Porphyria, Acute Intermittent [MESH:D017118] (61) |
|
|
Pancreatic Agenesis, Congenital [MESH:C564908] (44) |
|
|
Congenital Hyperinsulinism [MESH:D044903] (132) |
|
|
Cystic Fibrosis [MESH:D003550] (760) |
|
|
Pancreatic cancer, adult [MESH:C535836] (572) |
|
|
Carcinoma, Pancreatic Ductal [MESH:D021441] (1056) |
|
|
|
|
|
Hereditary pancreatitis [MESH:C537262] (234) |
|
|
Tropical Calcific Pancreatitis [MESH:C564276] (33) |
|
|
Mesenteric Vascular Occlusion [MESH:D008641] (147) |
|
|
Peritoneal Fibrosis [MESH:D056627] (488) |
|
 |
C07. Stomatognathic Diseases |
 |
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C07. Stomatognathic Diseases |
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External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation [MESH:C566509] (71) |
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Zlotogora-Ogur syndrome [MESH:C536726] (25) |
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Bamforth syndrome [MESH:C537901] (186) |
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Rosselli-Gulienetti Syndrome [MESH:C563117] (25) |
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Orofacial Cleft 5 [MESH:C563843] (38) |
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Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65) |
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Microtia, Hearing Impairment, And Cleft Palate [MESH:C567359] (30) |
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Orofacial Cleft 11 [MESH:C567410] (101) |
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PCI 5002 [MESH:C568608] (527) |
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Aloi Tomasini Isaia syndrome [MESH:C537049] (44) |
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Craniometaphyseal Dysplasia, Autosomal Dominant [MESH:C565145] (20) |
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Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (98) |
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Behcet Syndrome [MESH:D001528] (1784) |
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Mucositis [MESH:D052016] (1238) |
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Oral Submucous Fibrosis [MESH:D009914] (2432) |
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Rosselli-Gulienetti Syndrome [MESH:C563117] (25) |
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Orofacial Cleft 5 [MESH:C563843] (38) |
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Orofacial Cleft 11 [MESH:C567410] (101) |
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PCI 5002 [MESH:C568608] (433) |
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Contractures, Congenital, Torticollis, and Malignant Hyperthermia [MESH:C565679] (34) |
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Rosselli-Gulienetti Syndrome [MESH:C563117] (25) |
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Orofacial Cleft 5 [MESH:C563843] (38) |
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Orofacial Cleft 11 [MESH:C567410] (101) |
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PCI 5002 [MESH:C568608] (433) |
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Zlotogora-Ogur syndrome [MESH:C536726] (25) |
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Bamforth syndrome [MESH:C537901] (186) |
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Rosselli-Gulienetti Syndrome [MESH:C563117] (25) |
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Orofacial Cleft 5 [MESH:C563843] (38) |
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Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65) |
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Microtia, Hearing Impairment, And Cleft Palate [MESH:C567359] (30) |
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Orofacial Cleft 11 [MESH:C567410] (101) |
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Opitz GBBB Syndrome, X-Linked [MESH:C567932] (535) |
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Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia [MESH:C566352] (437) |
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Poikiloderma of Kindler [MESH:C536321] (64) |
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Periodontitis, Aggressive, 2 [MESH:C566946] (310) |
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Aggressive Periodontitis [MESH:D010520] (74) |
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Aplasia of Lacrimal and Salivary Glands [MESH:C562407] (42) |
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Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia [MESH:C566352] (437) |
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Stevens-Johnson Syndrome [MESH:D013262] (1163) |
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Nasopharyngeal carcinoma [MESH:C538339] (1198) |
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Nasopharyngeal teratoma with Dandy Walker diaphragmatic hernia [MESH:C538340] (365) |
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Nasopharyngeal carcinoma [MESH:C538339] (1198) |
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Nasopharyngeal teratoma with Dandy Walker diaphragmatic hernia [MESH:C538340] (365) |
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Hypoglossia, Isolated [MESH:C567568] (57) |
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External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation [MESH:C566509] (71) |
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Zlotogora-Ogur syndrome [MESH:C536726] (25) |
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Bamforth syndrome [MESH:C537901] (186) |
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Rosselli-Gulienetti Syndrome [MESH:C563117] (25) |
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Orofacial Cleft 5 [MESH:C563843] (38) |
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Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65) |
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Microtia, Hearing Impairment, And Cleft Palate [MESH:C567359] (30) |
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Orofacial Cleft 11 [MESH:C567410] (101) |
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Opitz GBBB Syndrome, X-Linked [MESH:C567932] (535) |
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Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (98) |
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Contractures, Congenital, Torticollis, and Malignant Hyperthermia [MESH:C565679] (34) |
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Rosselli-Gulienetti Syndrome [MESH:C563117] (25) |
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Orofacial Cleft 5 [MESH:C563843] (38) |
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Orofacial Cleft 11 [MESH:C567410] (101) |
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Orofacial Cleft 12 [MESH:C567548] (434) |
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Zlotogora-Ogur syndrome [MESH:C536726] (25) |
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Bamforth syndrome [MESH:C537901] (186) |
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Rosselli-Gulienetti Syndrome [MESH:C563117] (25) |
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Orofacial Cleft 5 [MESH:C563843] (38) |
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Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65) |
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Microtia, Hearing Impairment, And Cleft Palate [MESH:C567359] (30) |
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Orofacial Cleft 11 [MESH:C567410] (101) |
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Opitz GBBB Syndrome, X-Linked [MESH:C567932] (535) |
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Lacrimoauriculodentodigital syndrome [MESH:C538132] (149) |
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Tooth Agenesis, Selective, 6 [MESH:C567755] (154) |
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Witkop syndrome [MESH:C536736] (38) |
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Single upper central incisor [MESH:C537342] (50) |
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Lacrimoauriculodentodigital syndrome [MESH:C538132] (149) |
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Tooth Agenesis, Selective, 6 [MESH:C567755] (154) |
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Witkop syndrome [MESH:C536736] (38) |
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Single upper central incisor [MESH:C537342] (50) |
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C08. Respiratory Tract Diseases |
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C08. Respiratory Tract Diseases |
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Not Fully Specified [NFS] (1984) |
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Bronchial Hyperreactivity [MESH:D016535] (1357) |
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Asthma, Aspirin-Induced [MESH:D055963] (1055) |
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Bronchiectasis With Or Without Elevated Sweat Chloride 1 [MESH:C567618] (217) |
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Bronchiectasis With Or Without Elevated Sweat Chloride 2 [MESH:C567813] (77) |
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Cystic Fibrosis [MESH:D003550] (760) |
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Hypertension, Pulmonary [MESH:D006976] (2000) |
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Pulmonary Embolism [MESH:D011655] (1118) |
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Pulmonary Fibrosis [MESH:D011658] (3140) |
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Respiratory Distress Syndrome, Adult [MESH:D012128] (864) |
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Tuberculosis, Pulmonary [MESH:D014397] (678) |
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Surfactant Metabolism Dysfunction, Pulmonary, 1 [MESH:C566882] (102) |
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Asbestosis [MESH:D001195] (935) |
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Berylliosis [MESH:D001607] (2005) |
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Silicosis [MESH:D012829] (1273) |
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Asthma [MESH:D001249] (3903) |
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Pulmonary Emphysema [MESH:D011656] (1259) |
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Acute Lung Injury [MESH:D055371] (1907) |
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Asbestosis [MESH:D001195] (935) |
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Berylliosis [MESH:D001607] (2005) |
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Silicosis [MESH:D012829] (1273) |
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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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Pneumonia, Aspiration [MESH:D011015] (824) |
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Pneumonia, Viral [MESH:D011024] (125) |
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Surfactant Metabolism Dysfunction, Pulmonary, 1 [MESH:C566882] (102) |
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Sinusitis [MESH:D012852] (469) |
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Rhinitis, Allergic, Perennial [MESH:D012221] (625) |
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Pleurisy [MESH:D010998] (2070) |
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Cough [MESH:D003371] (179) |
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Respiratory Distress Syndrome, Adult [MESH:D012128] (864) |
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Sleep Apnea Syndromes [MESH:D012891] (570) |
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Pitt-Hopkins syndrome [MESH:C537403] (113) |
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Perry Syndrome [MESH:C566822] (21) |
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Rhinitis, Allergic, Perennial [MESH:D012221] (625) |
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Asthma, Aspirin-Induced [MESH:D055963] (1055) |
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Tracheoesophageal Fistula [MESH:D014138] (88) |
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Influenza, Human [MESH:D007251] (1075) |
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Pleurisy [MESH:D010998] (2070) |
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Rhinitis [MESH:D012220] (766) |
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Severe Acute Respiratory Syndrome [MESH:D045169] (127) |
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Sinusitis [MESH:D012852] (469) |
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Tuberculosis, Pulmonary [MESH:D014397] (678) |
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Pneumonia, Aspiration [MESH:D011015] (824) |
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Pneumonia, Viral [MESH:D011024] (125) |
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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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Tracheoesophageal Fistula [MESH:D014138] (88) |
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C09. Otorhinolaryngologic Diseases |
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C09. Otorhinolaryngologic Diseases |
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Lacrimoauriculodentodigital syndrome [MESH:C538132] (149) |
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Microtia, Hearing Impairment, And Cleft Palate [MESH:C567359] (30) |
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Usher syndrome, type 1D [MESH:C536487] (23) |
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Optic atrophy 1 and deafness [MESH:C537124] (30) |
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Griscelli syndrome type 1 [MESH:C537301] (42) |
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Deafness, Autosomal Recessive 12 [MESH:C563327] (46) |
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Nephropathy with Pretibial Epidermolysis Bullosa and Deafness [MESH:C563798] (43) |
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Insulin-Like Growth Factor I Deficiency [MESH:C563867] (346) |
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Deafness, Autosomal Dominant 44 [MESH:C564399] (18) |
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Usher syndrome, type 1D [MESH:C536487] (23) |
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Vestibular Diseases [MESH:D015837] (819) |
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Sinusitis [MESH:D012852] (469) |
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Rhinitis, Allergic, Perennial [MESH:D012221] (625) |
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Nasopharyngeal carcinoma [MESH:C538339] (1198) |
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Nasopharyngeal carcinoma [MESH:C538339] (1198) |
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Nasopharyngeal carcinoma [MESH:C538339] (1198) |
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C10. Nervous System Diseases |
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C10. Nervous System Diseases |
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Not Fully Specified [NFS] (4027) |
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Multiple Sclerosis [MESH:D009103] (1716) |
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Orthostatic Intolerance [MESH:D054971] (720) |
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Endocrine-Cerebroosteodysplasia [MESH:C567210] (26) |
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Beta-Ureidopropionase Deficiency [MESH:C563210] (35) |
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Brain Edema [MESH:D001929] (1165) |
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Brain Injuries [MESH:D001930] (3429) |
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Hypoxia, Brain [MESH:D002534] (134) |
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Idiopathic basal ganglia calcification 1 [MESH:C536275] (139) |
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Huntington Disease [MESH:D006816] (540) |
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Supranuclear Palsy, Progressive [MESH:D013494] (235) |
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Perry Syndrome [MESH:C566822] (21) |
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Parkinson Disease, Secondary [MESH:D010302] (327) |
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Parkinson Disease 4, Autosomal Dominant Lewy Body [MESH:C565324] (136) |
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Parkinson Disease 7, Autosomal Recessive Early-Onset [MESH:C565238] (62) |
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Parkinson Disease 4, Autosomal Dominant Lewy Body [MESH:C565324] (136) |
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Kernicterus [MESH:D007647] (256) |
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Cerebral Amyloid Angiopathy, Familial [MESH:D028243] (377) |
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Hyperglycinemia, Nonketotic [MESH:D020158] (67) |
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Leigh Disease [MESH:D007888] (206) |
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Maple Syrup Urine Disease [MESH:D008375] (127) |
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Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178) |
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Canavan Disease [MESH:D017825] (29) |
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Sialic Acid Storage Disease [MESH:D029461] (63) |
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Farber Lipogranulomatosis [MESH:D055577] (62) |
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Gaucher Disease [MESH:D005776] (299) |
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Peroxisome biogenesis disorders [MESH:C536664] (101) |
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Mevalonate Kinase Deficiency [MESH:D054078] (38) |
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Refsum Disease, Infantile [MESH:D052919] (51) |
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Zellweger Syndrome [MESH:D015211] (182) |
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Hyperphenylalaninemia, BH4-Deficient, B [MESH:C562656] (97) |
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Hyperargininemia [MESH:D020162] (109) |
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Combined Oxidative Phosphorylation Deficiency 1 [MESH:C563797] (24) |
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Papilloma, Choroid Plexus [MESH:D020288] (769) |
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Pituitary Neoplasms [MESH:D010911] (914) |
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Spinocerebellar Ataxia 15 [MESH:C564685] (90) |
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Machado-Joseph Disease [MESH:D017827] (37) |
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Spinocerebellar Ataxia 29 [MESH:C537206] (90) |
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Spinocerebellar Ataxia 15 [MESH:C564685] (90) |
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Machado-Joseph Disease [MESH:D017827] (37) |
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Ischemic Attack, Transient [MESH:D002546] (1313) |
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Infarction, Middle Cerebral Artery [MESH:D020244] (2268) |
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Carotid Artery Thrombosis [MESH:D002341] (138) |
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Cerebral Amyloid Angiopathy, Familial [MESH:D028243] (377) |
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Infarction, Middle Cerebral Artery [MESH:D020244] (2268) |
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Cerebral Amyloid Angiopathy, Familial [MESH:D028243] (377) |
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Cerebral Hemorrhage [MESH:D002543] (2873) |
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Pituitary Apoplexy [MESH:D010899] (125) |
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Subarachnoid Hemorrhage [MESH:D013345] (1082) |
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Infarction, Middle Cerebral Artery [MESH:D020244] (2268) |
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Alzheimer Disease [MESH:D000544] (4275) |
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Huntington Disease [MESH:D006816] (540) |
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Frontotemporal Dementia [MESH:D057180] (300) |
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Parkinson Disease 4, Autosomal Dominant Lewy Body [MESH:C565324] (136) |
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Seizures [MESH:D012640] (4502) |
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Status Epilepticus [MESH:D013226] (4014) |
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Myoclonic Epilepsies, Progressive [MESH:D020191] (1101) |
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Myoclonic Epilepsy, Juvenile [MESH:D020190] (166) |
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Epilepsy, Complex Partial [MESH:D017029] (43) |
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Epilepsy, Temporal Lobe [MESH:D004833] (1108) |
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Epilepsy, Nocturnal Frontal Lobe, Type 4 [MESH:C563679] (43) |
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Epilepsy, Tonic-Clonic [MESH:D004830] (1042) |
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Epileptic encephalopathy, Lennox-Gastaut type [MESH:C535500] (70) |
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Migraine without Aura [MESH:D020326] (408) |
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Bardet-Biedl Syndrome [MESH:D020788] (110) |
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Pituitary Neoplasms [MESH:D010911] (914) |
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Isolated Growth Hormone Deficiency, Type IB [MESH:C567564] (140) |
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Hypopituitarism [MESH:D007018] (732) |
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Pituitary Apoplexy [MESH:D010899] (125) |
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Acromegaly [MESH:D000172] (466) |
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Hyperprolactinemia [MESH:D006966] (603) |
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ACTH-Secreting Pituitary Adenoma [MESH:D049913] (172) |
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Growth Hormone-Secreting Pituitary Adenoma [MESH:D049912] (383) |
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Prolactinoma [MESH:D015175] (312) |
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Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178) |
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Canavan Disease [MESH:D017825] (29) |
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Neurodegeneration Due To Cerebral Folate Transport Deficiency [MESH:C567791] (53) |
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Meningitis, Aseptic [MESH:D008582] (1305) |
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Meningitis, Aseptic [MESH:D008582] (1305) |
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Meningitis, Aseptic [MESH:D008582] (1305) |
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Beta-Ureidopropionase Deficiency [MESH:C563210] (35) |
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Angelman Syndrome [MESH:D017204] (124) |
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Supranuclear Palsy, Progressive [MESH:D013494] (235) |
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Tic Disorders [MESH:D013981] (256) |
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Dyskinesia, Drug-Induced [MESH:D004409] (1389) |
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Huntington Disease [MESH:D006816] (540) |
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Segawa syndrome, autosomal recessive [MESH:C537537] (220) |
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Dystonia 12 [MESH:C538001] (36) |
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Dystonia, Dopa-responsive [MESH:C538007] (98) |
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Torticollis [MESH:D014103] (80) |
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Perry Syndrome [MESH:C566822] (21) |
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Parkinson Disease, Secondary [MESH:D010302] (327) |
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Parkinson Disease 4, Autosomal Dominant Lewy Body [MESH:C565324] (136) |
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Parkinson Disease 7, Autosomal Recessive Early-Onset [MESH:C565238] (62) |
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Parkinson Disease 4, Autosomal Dominant Lewy Body [MESH:C565324] (136) |
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Spinal Cord Compression [MESH:D013117] (1800) |
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Spinal Cord Injuries [MESH:D013119] (1674) |
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Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559) |
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Neuronopathy, Distal Hereditary Motor, Type Viib [MESH:C564362] (21) |
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Spinocerebellar Ataxia 29 [MESH:C537206] (90) |
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Spinocerebellar Ataxia 15 [MESH:C564685] (90) |
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Machado-Joseph Disease [MESH:D017827] (37) |
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Currarino triad [MESH:C536221] (47) |
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Advanced Sleep-Phase Syndrome, Familial [MESH:C565789] (82) |
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Duane Retraction Syndrome [MESH:D004370] (43) |
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Fibrosis Of Extraocular Muscles, Congenital, 2 [MESH:C566587] (18) |
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Supranuclear Palsy, Progressive [MESH:D013494] (235) |
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Optic atrophy 1 and deafness [MESH:C537124] (30) |
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Optic Atrophy, Autosomal Dominant [MESH:D029241] (31) |
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Multiple Sclerosis [MESH:D009103] (1716) |
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Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178) |
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Canavan Disease [MESH:D017825] (29) |
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Microphthalmia, Syndromic 6 [MESH:C566440] (101) |
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Acrocallosal Syndrome [MESH:D055673] (43) |
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Holoprosencephaly 7 [MESH:C563660] (46) |
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Holoprosencephaly 3 [MESH:C564181] (50) |
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Hereditary Motor And Sensory Neuropathy, Type IIC [MESH:C565261] (39) |
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Spastic paraplegia 13, autosomal dominant [MESH:C537485] (178) |
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Microcephaly [MESH:D008831] (700) |
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Classical Lissencephalies and Subcortical Band Heterotopias [MESH:D054221] (114) |
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Classical Lissencephalies and Subcortical Band Heterotopias [MESH:D054221] (114) |
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Spinal Dysraphism [MESH:D016135] (1025) |
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Knobloch syndrome [MESH:C537209] (70) |
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|
|
|
|
|
|
|
|
|
|
Papilloma, Choroid Plexus [MESH:D020288] (769) |
|
|
|
|
|
Pituitary Neoplasms [MESH:D010911] (914) |
|
|
Meningioma [MESH:D008579] (978) |
|
|
|
|
|
|
|
|
Neurofibrosarcoma [MESH:D018319] (44) |
|
|
Sturge-Weber Syndrome [MESH:D013341] (76) |
|
|
von Hippel-Lindau Disease [MESH:D006623] (580) |
|
|
Idiopathic basal ganglia calcification 1 [MESH:C536275] (139) |
|
|
Canavan Disease [MESH:D017825] (29) |
|
|
Huntington Disease [MESH:D006816] (540) |
|
|
Rett Syndrome [MESH:D015518] (143) |
|
|
Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178) |
|
|
|
|
|
Hereditary Motor And Sensory Neuropathy, Type IIC [MESH:C565261] (39) |
|
|
Spastic paraplegia 13, autosomal dominant [MESH:C537485] (178) |
|
|
Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946) |
|
|
Ceroid Lipofuscinosis, Neuronal, 10 [MESH:C566438] (159) |
|
|
Ceroid Lipofuscinosis, Neuronal, 2 [MESH:C566857] (39) |
|
|
Optic atrophy 1 and deafness [MESH:C537124] (30) |
|
|
Optic Atrophy, Autosomal Dominant [MESH:D029241] (31) |
|
|
Spinocerebellar Ataxia 29 [MESH:C537206] (90) |
|
|
Spinocerebellar Ataxia 15 [MESH:C564685] (90) |
|
|
Machado-Joseph Disease [MESH:D017827] (37) |
|
|
Parkinson Disease 4, Autosomal Dominant Lewy Body [MESH:C565324] (136) |
|
|
|
|
|
Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559) |
|
|
Neuronopathy, Distal Hereditary Motor, Type Viib [MESH:C564362] (21) |
|
|
Parkinson Disease 7, Autosomal Recessive Early-Onset [MESH:C565238] (62) |
|
|
Parkinson Disease 4, Autosomal Dominant Lewy Body [MESH:C565324] (136) |
|
|
Alzheimer Disease [MESH:D000544] (4275) |
|
|
Supranuclear Palsy, Progressive [MESH:D013494] (235) |
|
|
|
|
|
Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559) |
|
|
Frontotemporal Dementia [MESH:D057180] (298) |
|
|
Neurogenic Inflammation [MESH:D020078] (2246) |
|
|
Paresis [MESH:D010291] (419) |
|
|
Seizures [MESH:D012640] (4514) |
|
|
Catalepsy [MESH:D002375] (1429) |
|
|
Hyperkinesis [MESH:D006948] (1799) |
|
|
Hypokinesia [MESH:D018476] (279) |
|
|
Myoclonus [MESH:D009207] (427) |
|
|
Tics [MESH:D020323] (62) |
|
|
Tremor [MESH:D014202] (840) |
|
|
Ataxia with vitamin E deficiency [MESH:C535393] (271) |
|
|
|
|
|
Spinocerebellar Ataxia 15 [MESH:C564685] (90) |
|
|
Machado-Joseph Disease [MESH:D017827] (37) |
|
|
Torticollis [MESH:D014103] (80) |
|
|
Psychomotor Disorders [MESH:D011596] (576) |
|
|
Learning Disorders [MESH:D007859] (2727) |
|
|
|
|
|
Coma [MESH:D003128] (524) |
|
|
|
|
|
Amnesia, Retrograde [MESH:D000648] (53) |
|
|
Epileptic encephalopathy, Lennox-Gastaut type [MESH:C535500] (70) |
|
|
Zlotogora-Ogur syndrome [MESH:C536726] (25) |
|
|
Parastremmatic dwarfism [MESH:C537172] (39) |
|
|
Pitt-Hopkins syndrome [MESH:C537403] (113) |
|
|
Hypotonia-Cystinuria Syndrome [MESH:C564710] (52) |
|
|
Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (85) |
|
|
Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65) |
|
|
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation [MESH:C567038] (48) |
|
|
De Lange Syndrome [MESH:D003635] (55) |
|
|
Down Syndrome [MESH:D004314] (1287) |
|
|
Prader-Willi Syndrome [MESH:D011218] (46) |
|
|
WAGR Syndrome [MESH:D017624] (270) |
|
|
Lubs X-linked mental retardation syndrome [MESH:C537723] (44) |
|
|
Mental Retardation, X-Linked, Syndromic 13 [MESH:C566875] (44) |
|
|
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations [MESH:C566878] (44) |
|
|
Rett Syndrome [MESH:D015518] (143) |
|
|
Fasciculation [MESH:D005207] (204) |
|
|
Muscle Weakness [MESH:D018908] (478) |
|
|
Muscular Atrophy [MESH:D009133] (1234) |
|
|
Muscle Rigidity [MESH:D009127] (617) |
|
|
Hypotonia-Cystinuria Syndrome [MESH:C564710] (52) |
|
|
|
|
|
Hecht syndrome [MESH:C535857] (10) |
|
|
Headache [MESH:D006261] (1416) |
|
|
Neuralgia [MESH:D009437] (2074) |
|
|
|
|
|
Alternating hemiplegia of childhood [MESH:C536589] (70) |
|
|
Fibrosis Of Extraocular Muscles, Congenital, 2 [MESH:C566587] (18) |
|
|
Supranuclear Palsy, Progressive [MESH:D013494] (235) |
|
|
Reflex, Babinski [MESH:D001405] (97) |
|
|
Olfaction Disorders [MESH:D000857] (105) |
|
|
Taste Disorders [MESH:D013651] (461) |
|
|
|
|
|
Lacrimoauriculodentodigital syndrome [MESH:C538132] (149) |
|
|
Microtia, Hearing Impairment, And Cleft Palate [MESH:C567359] (30) |
|
|
|
|
|
|
|
|
Usher syndrome, type 1D [MESH:C536487] (23) |
|
|
Optic atrophy 1 and deafness [MESH:C537124] (30) |
|
|
Griscelli syndrome type 1 [MESH:C537301] (42) |
|
|
Deafness, Autosomal Recessive 12 [MESH:C563327] (46) |
|
|
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness [MESH:C563798] (43) |
|
|
Insulin-Like Growth Factor I Deficiency [MESH:C563867] (346) |
|
|
Deafness, Autosomal Dominant 44 [MESH:C564399] (18) |
|
|
Usher syndrome, type 1D [MESH:C536487] (23) |
|
|
Hyperalgesia [MESH:D006930] (3929) |
|
|
|
|
|
|
|
|
|
|
|
Usher syndrome, type 1D [MESH:C536487] (23) |
|
|
|
|
|
|
|
|
Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559) |
|
|
Neuronopathy, Distal Hereditary Motor, Type Viib [MESH:C564362] (21) |
|
|
Neuronopathy, Distal Hereditary Motor, Type Viib [MESH:C564362] (21) |
|
|
VLCAD deficiency [MESH:C536353] (55) |
|
|
Systemic carnitine deficiency [MESH:C536778] (92) |
|
|
Myopathy, Myosin Storage [MESH:C564253] (77) |
|
|
|
|
|
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency [MESH:C567709] (41) |
|
|
Muscular Dystrophy, Duchenne [MESH:D020388] (942) |
|
|
Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854) |
|
|
Distal myopathy, Nonaka type [MESH:C536816] (40) |
|
|
Limb-girdle muscular dystrophy type 2A [MESH:C535895] (14) |
|
|
Polymyositis [MESH:D017285] (2007) |
|
|
Inclusion body myopathy autosomal recessive [MESH:C538329] (40) |
|
|
|
|
|
Myasthenic syndrome, congenital, postsynaptic slow-channel [MESH:C536091] (73) |
|
|
Myasthenic Syndrome, Congenital, Fast-Channel [MESH:C563832] (58) |
|
|
Diabetic Neuropathies [MESH:D003929] (2442) |
|
|
Neuralgia [MESH:D009437] (2078) |
|
|
Sciatic Neuropathy [MESH:D020426] (477) |
|
|
|
|
|
|
|
|
Neurofibrosarcoma [MESH:D018319] (44) |
|
|
|
|
|
|
|
|
Hereditary Motor And Sensory Neuropathy, Type IIC [MESH:C565261] (39) |
|
|
Spastic paraplegia 13, autosomal dominant [MESH:C537485] (178) |
|
|
Dyskinesia, Drug-Induced [MESH:D004409] (1389) |
|
|
Arsenic Poisoning [MESH:D020261] (2540) |
|
|
Manganese Poisoning [MESH:D020149] (2214) |
|
|
|
|
|
Sleep Deprivation [MESH:D012892] (233) |
|
|
Advanced Sleep-Phase Syndrome, Familial [MESH:C565789] (82) |
|
|
Sleep Apnea Syndromes [MESH:D012891] (570) |
|
|
Sleep Initiation and Maintenance Disorders [MESH:D007319] (354) |
|
|
Narcolepsy [MESH:D009290] (478) |
|
|
|
|
|
|
|
|
Epilepsy, Nocturnal Frontal Lobe, Type 4 [MESH:C563679] (43) |
|
|
Spinal Cord Injuries [MESH:D013119] (1676) |
|
|
Brain Injuries [MESH:D001930] (3431) |
|
 |
C11. Eye Diseases |
 |
 |
|
C11. Eye Diseases |
|
|
|
|
|
Corneal Opacity [MESH:D003318] (544) |
|
|
|
|
|
WAGR Syndrome [MESH:D017624] (270) |
|
|
Microphthalmia, Isolated, with Coloboma 5 [MESH:C566899] (50) |
|
|
Microphthalmia, Syndromic 6 [MESH:C566440] (101) |
|
|
Microphthalmia, Isolated, with Coloboma 5 [MESH:C566899] (50) |
|
|
Night blindness, congenital stationary [MESH:C536122] (37) |
|
|
Fibrosis Of Extraocular Muscles, Congenital, 2 [MESH:C566587] (18) |
|
|
Cataract, Congenital Nuclear, Autosomal Recessive 3 [MESH:C566923] (8) |
|
|
Duane Retraction Syndrome [MESH:D004370] (43) |
|
|
WAGR Syndrome [MESH:D017624] (270) |
|
|
Amaurosis congenita of Leber, type 1 [MESH:C536600] (11) |
|
|
Optic atrophy 1 and deafness [MESH:C537124] (30) |
|
|
Optic Atrophy, Autosomal Dominant [MESH:D029241] (31) |
|
|
Retinal cone dystrophy 2 [MESH:C538363] (11) |
|
|
Cone-Rod Dystrophy 5 [MESH:C563415] (19) |
|
|
Cone-Rod Dystrophy 7 [MESH:C566350] (11) |
|
|
|
|
|
Retinoblastoma [MESH:D012175] (319) |
|
|
|
|
|
Fibrosis Of Extraocular Muscles, Congenital, 2 [MESH:C566587] (18) |
|
|
Benign essential blepharospasm [MESH:C535428] (32) |
|
|
Lacrimoauriculodentodigital syndrome [MESH:C538132] (149) |
|
|
Aplasia of Lacrimal and Salivary Glands [MESH:C562407] (42) |
|
|
Dry Eye Syndromes [MESH:D015352] (533) |
|
|
|
|
|
Cerulean cataract [MESH:C537955] (14) |
|
|
Cataract, Coppock-Like [MESH:C565133] (20) |
|
|
Cataract, Pulverulent, Juvenile-Onset [MESH:C565703] (69) |
|
|
Cataract, Congenital Nuclear, Autosomal Recessive 3 [MESH:C566923] (8) |
|
|
|
|
|
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation [MESH:C567038] (48) |
|
|
Glaucoma, Primary Open Angle [MESH:C562750] (466) |
|
|
Duane Retraction Syndrome [MESH:D004370] (43) |
|
|
Fibrosis Of Extraocular Muscles, Congenital, 2 [MESH:C566587] (18) |
|
|
Supranuclear Palsy, Progressive [MESH:D013494] (235) |
|
|
|
|
|
|
|
|
Optic atrophy 1 and deafness [MESH:C537124] (30) |
|
|
Optic Atrophy, Autosomal Dominant [MESH:D029241] (31) |
|
|
|
|
|
Graves Disease [MESH:D006111] (278) |
|
|
|
|
|
Night blindness, congenital stationary [MESH:C536122] (37) |
|
|
Diabetic Retinopathy [MESH:D003930] (1371) |
|
|
Retinitis [MESH:D012173] (137) |
|
|
Amaurosis congenita of Leber, type 1 [MESH:C536600] (11) |
|
|
|
|
|
Macular Degeneration, Age-Related, 10 [MESH:C566935] (162) |
|
|
Macular Degeneration, Age-Related, 11 [MESH:C567450] (61) |
|
|
|
|
|
Retinal cone dystrophy 2 [MESH:C538363] (11) |
|
|
Cone-Rod Dystrophy 5 [MESH:C563415] (19) |
|
|
Cone-Rod Dystrophy 7 [MESH:C566350] (11) |
|
|
Usher syndrome, type 1D [MESH:C536487] (23) |
|
|
Knobloch syndrome [MESH:C537209] (70) |
|
|
Retinoblastoma [MESH:D012175] (319) |
|
|
|
|
|
|
|
|
WAGR Syndrome [MESH:D017624] (270) |
|
|
|
|
|
|
|
|
Behcet Syndrome [MESH:D001528] (1784) |
|
|
|
|
|
|
|
|
|
|
|
Usher syndrome, type 1D [MESH:C536487] (23) |
|
|
Night blindness, congenital stationary [MESH:C536122] (37) |
|
|
Oguchi disease [MESH:C537743] (22) |
|
 |
C12. Male Urogenital Diseases |
 |
 |
|
C12. Male Urogenital Diseases |
|
|
|
|
|
|
|
|
Penile Neoplasms [MESH:D010412] (890) |
|
|
Testicular Neoplasms [MESH:D013736] (520) |
|
|
Prostate Cancer, Hereditary, 13 [MESH:C567456] (35) |
|
|
|
|
|
Aromatase deficiency [MESH:C537436] (277) |
|
|
Azoospermia [MESH:D053713] (1052) |
|
|
Oligospermia [MESH:D009845] (799) |
|
|
Penile Induration [MESH:D010411] (495) |
|
|
Penile Neoplasms [MESH:D010412] (890) |
|
|
Prostatitis [MESH:D011472] (424) |
|
|
Prostate Cancer, Hereditary, 13 [MESH:C567456] (35) |
|
|
Erectile Dysfunction [MESH:D007172] (1791) |
|
|
Cryptorchidism [MESH:D003456] (215) |
|
|
Allanson Pantzar McLeod syndrome [MESH:C537048] (503) |
|
|
Rosselli-Gulienetti Syndrome [MESH:C563117] (25) |
|
|
Microphthalmia, Syndromic 6 [MESH:C566440] (101) |
|
|
Cryptorchidism [MESH:D003456] (215) |
|
|
|
|
|
Aromatase deficiency [MESH:C537436] (277) |
|
|
Persistent Mullerian duct syndrome [MESH:C536665] (47) |
|
|
17-Hydroxysteroid Dehydrogenase Deficiency [MESH:C537805] (52) |
|
|
Denys-Drash Syndrome [MESH:D030321] (57) |
|
|
Frasier Syndrome [MESH:D052159] (57) |
|
|
Kallmann Syndrome [MESH:D017436] (147) |
|
|
WAGR Syndrome [MESH:D017624] (270) |
|
|
Meacham Winn Culler syndrome [MESH:C538162] (57) |
|
|
Sexual Infantilism [MESH:D050035] (277) |
|
|
Meacham Winn Culler syndrome [MESH:C538162] (57) |
|
|
|
|
|
Penile Neoplasms [MESH:D010412] (890) |
|
|
Testicular Neoplasms [MESH:D013736] (520) |
|
|
Prostate Cancer, Hereditary, 13 [MESH:C567456] (35) |
|
|
Ureteral Neoplasms [MESH:D014516] (574) |
|
|
Urinary Bladder Neoplasms [MESH:D001749] (4079) |
|
|
Carcinoma, Renal Cell [MESH:D002292] (2975) |
|
|
Denys-Drash Syndrome [MESH:D030321] (57) |
|
|
WAGR Syndrome [MESH:D017624] (270) |
|
|
Urinary Tract Infections [MESH:D014552] (984) |
|
|
Urolithiasis [MESH:D052878] (585) |
|
|
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness [MESH:C563798] (43) |
|
|
Anuria [MESH:D001002] (833) |
|
|
Diabetic Nephropathies [MESH:D003928] (2301) |
|
|
Fanconi Syndrome [MESH:D005198] (253) |
|
|
Zellweger Syndrome [MESH:D015211] (182) |
|
|
|
|
|
Primary hyperoxaluria type 1 [MESH:C536414] (48) |
|
|
|
|
|
Polycystic Kidney, Autosomal Recessive [MESH:D017044] (462) |
|
|
Medullary cystic kidney disease 1 [MESH:C536137] (61) |
|
|
Carcinoma, Renal Cell [MESH:D002292] (2975) |
|
|
Denys-Drash Syndrome [MESH:D030321] (57) |
|
|
WAGR Syndrome [MESH:D017624] (270) |
|
|
|
|
|
Glomerulonephritis, IGA [MESH:D005922] (897) |
|
|
Glomerulonephritis, Membranoproliferative [MESH:D015432] (770) |
|
|
Glomerulonephritis, Membranous [MESH:D015433] (642) |
|
|
Glomerulosclerosis, Focal Segmental [MESH:D005923] (1754) |
|
|
Lupus Nephritis [MESH:D008181] (602) |
|
|
Balkan Nephropathy [MESH:D001449] (772) |
|
|
Hypomagnesemia primary [MESH:C537153] (35) |
|
|
Nephrotic Syndrome [MESH:D009404] (1536) |
|
|
Arthrogryposis renal dysfunction cholestasis syndrome [MESH:C535382] (23) |
|
|
Acute Kidney Injury [MESH:D058186] (4142) |
|
|
|
|
|
Frasier Syndrome [MESH:D052159] (57) |
|
|
Hypomagnesemia 2, renal [MESH:C537152] (38) |
|
|
Hypomagnesemia primary [MESH:C537153] (35) |
|
|
Fanconi Syndrome [MESH:D005198] (253) |
|
|
Liddle Syndrome [MESH:D056929] (200) |
|
|
Pseudohypoaldosteronism [MESH:D011546] (232) |
|
|
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation [MESH:C567038] (48) |
|
|
Bartter syndrome, antenatal , type 2 [MESH:C537651] (30) |
|
|
|
|
|
Vitamin D Hydroxylation-Deficient Rickets, Type 1A [MESH:C562688] (58) |
|
|
Hypophosphatemic Rickets, Autosomal Recessive, 2 [MESH:C567647] (48) |
|
|
|
|
|
Hypotonia-Cystinuria Syndrome [MESH:C564710] (52) |
|
|
Hemolytic-Uremic Syndrome [MESH:D006463] (2435) |
|
|
Ureteral Neoplasms [MESH:D014516] (574) |
|
|
Ureteral Obstruction [MESH:D014517] (575) |
|
|
Urinary Bladder Neoplasms [MESH:D001749] (4079) |
|
|
Anuria [MESH:D001002] (833) |
|
|
Polyuria [MESH:D011141] (279) |
|
|
|
|
|
CD59 Deficiency [MESH:C567355] (57) |
|
 |
C13. Female Urogenital Diseases and Pregnancy Complications |
 |
 |
|
C13. Female Urogenital Diseases and Pregnancy Complications |
|
|
Not Fully Specified [NFS] (1116) |
|
|
|
|
|
Endometriosis [MESH:D004715] (2461) |
|
|
|
|
|
|
|
|
Polycystic Ovary Syndrome [MESH:D011085] (2186) |
|
|
Ovarian epithelial cancer [MESH:C538090] (57) |
|
|
Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143) |
|
|
Infertility, Female [MESH:D007247] (2184) |
|
|
|
|
|
Endometrial Neoplasms [MESH:D016889] (1984) |
|
|
Vulvar Lichen Sclerosus [MESH:D007724] (825) |
|
|
Allanson Pantzar McLeod syndrome [MESH:C537048] (503) |
|
|
Rosselli-Gulienetti Syndrome [MESH:C563117] (25) |
|
|
Microphthalmia, Syndromic 6 [MESH:C566440] (101) |
|
|
|
|
|
Aromatase deficiency [MESH:C537436] (277) |
|
|
Persistent Mullerian duct syndrome [MESH:C536665] (47) |
|
|
17-Hydroxysteroid Dehydrogenase Deficiency [MESH:C537805] (52) |
|
|
Denys-Drash Syndrome [MESH:D030321] (57) |
|
|
Frasier Syndrome [MESH:D052159] (57) |
|
|
Kallmann Syndrome [MESH:D017436] (147) |
|
|
WAGR Syndrome [MESH:D017624] (270) |
|
|
Meacham Winn Culler syndrome [MESH:C538162] (57) |
|
|
Sexual Infantilism [MESH:D050035] (277) |
|
|
Meacham Winn Culler syndrome [MESH:C538162] (57) |
|
|
|
|
|
|
|
|
Ovarian epithelial cancer [MESH:C538090] (57) |
|
|
Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143) |
|
|
Endometrial Neoplasms [MESH:D016889] (1989) |
|
|
Ureteral Neoplasms [MESH:D014516] (574) |
|
|
Urinary Bladder Neoplasms [MESH:D001749] (4079) |
|
|
Carcinoma, Renal Cell [MESH:D002292] (2975) |
|
|
Denys-Drash Syndrome [MESH:D030321] (57) |
|
|
WAGR Syndrome [MESH:D017624] (270) |
|
|
Urinary Tract Infections [MESH:D014552] (984) |
|
|
Urolithiasis [MESH:D052878] (585) |
|
|
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness [MESH:C563798] (43) |
|
|
Anuria [MESH:D001002] (833) |
|
|
Diabetic Nephropathies [MESH:D003928] (2301) |
|
|
Fanconi Syndrome [MESH:D005198] (253) |
|
|
Zellweger Syndrome [MESH:D015211] (182) |
|
|
|
|
|
Primary hyperoxaluria type 1 [MESH:C536414] (48) |
|
|
|
|
|
Polycystic Kidney, Autosomal Recessive [MESH:D017044] (462) |
|
|
Medullary cystic kidney disease 1 [MESH:C536137] (61) |
|
|
Carcinoma, Renal Cell [MESH:D002292] (2975) |
|
|
Denys-Drash Syndrome [MESH:D030321] (57) |
|
|
WAGR Syndrome [MESH:D017624] (270) |
|
|
|
|
|
Glomerulonephritis, IGA [MESH:D005922] (897) |
|
|
Glomerulonephritis, Membranoproliferative [MESH:D015432] (770) |
|
|
Glomerulonephritis, Membranous [MESH:D015433] (642) |
|
|
Glomerulosclerosis, Focal Segmental [MESH:D005923] (1754) |
|
|
Lupus Nephritis [MESH:D008181] (602) |
|
|
Balkan Nephropathy [MESH:D001449] (772) |
|
|
Hypomagnesemia primary [MESH:C537153] (35) |
|
|
Nephrotic Syndrome [MESH:D009404] (1536) |
|
|
Arthrogryposis renal dysfunction cholestasis syndrome [MESH:C535382] (23) |
|
|
Acute Kidney Injury [MESH:D058186] (4142) |
|
|
|
|
|
Frasier Syndrome [MESH:D052159] (57) |
|
|
Hypomagnesemia 2, renal [MESH:C537152] (38) |
|
|
Hypomagnesemia primary [MESH:C537153] (35) |
|
|
Fanconi Syndrome [MESH:D005198] (253) |
|
|
Liddle Syndrome [MESH:D056929] (200) |
|
|
Pseudohypoaldosteronism [MESH:D011546] (232) |
|
|
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation [MESH:C567038] (48) |
|
|
Bartter syndrome, antenatal , type 2 [MESH:C537651] (30) |
|
|
|
|
|
Vitamin D Hydroxylation-Deficient Rickets, Type 1A [MESH:C562688] (58) |
|
|
Hypophosphatemic Rickets, Autosomal Recessive, 2 [MESH:C567647] (48) |
|
|
|
|
|
Hypotonia-Cystinuria Syndrome [MESH:C564710] (52) |
|
|
Hemolytic-Uremic Syndrome [MESH:D006463] (2435) |
|
|
Ureteral Neoplasms [MESH:D014516] (574) |
|
|
Ureteral Obstruction [MESH:D014517] (575) |
|
|
Urinary Bladder Neoplasms [MESH:D001749] (4079) |
|
|
Anuria [MESH:D001002] (833) |
|
|
Polyuria [MESH:D011141] (279) |
|
|
|
|
|
CD59 Deficiency [MESH:C567355] (57) |
|
|
Diabetes, Gestational [MESH:D016640] (1157) |
|
|
Fetal Death [MESH:D005313] (464) |
|
|
Abortion, Habitual [MESH:D000026] (32) |
|
|
Pre-Eclampsia [MESH:D011225] (1435) |
|
|
Fetal Membranes, Premature Rupture [MESH:D005322] (356) |
|
|
Obstetric Labor, Premature [MESH:D007752] (1316) |
|
|
Prenatal Exposure Delayed Effects [MESH:D011297] (870) |
|
 |
C14. Cardiovascular Diseases |
 |
 |
|
C14. Cardiovascular Diseases |
|
|
Not Fully Specified [NFS] (2667) |
|
|
|
|
|
|
|
|
Cardiofaciocutaneous syndrome [MESH:C535579] (407) |
|
|
VATER association [MESH:C536534] (46) |
|
|
Short QT Syndrome 1 [MESH:C566506] (189) |
|
|
Alagille Syndrome [MESH:D016738] (105) |
|
|
Marfan Syndrome [MESH:D008382] (646) |
|
|
Tetralogy of Fallot [MESH:D013771] (121) |
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Heart Septal Defects, Atrial [MESH:D006344] (209) |
|
|
Heart Septal Defects, Ventricular [MESH:D006345] (160) |
|
|
LEOPARD syndrome, 2 [MESH:C537117] (169) |
|
|
Noonan Syndrome 5 [MESH:C548083] (169) |
|
|
Noonan Syndrome 6 [MESH:C548084] (44) |
|
|
|
|
|
Capillary Malformation-Arteriovenous Malformation [MESH:C564254] (50) |
|
|
Heart Failure [MESH:D006333] (4058) |
|
|
Short QT Syndrome 1 [MESH:C566506] (189) |
|
|
Bradycardia [MESH:D001919] (1899) |
|
|
Sick Sinus Syndrome [MESH:D012804] (293) |
|
|
Atrial Fibrillation, Familial, 7 [MESH:C567389] (39) |
|
|
Atrioventricular Block [MESH:D054537] (188) |
|
|
Sick Sinus Syndrome [MESH:D012804] (293) |
|
|
Long Qt Syndrome 2 [MESH:C563614] (189) |
|
|
|
|
|
Polymorphic catecholergic ventricular tachycardia [MESH:C536334] (64) |
|
|
Torsades de Pointes [MESH:D016171] (880) |
|
|
Hypertrophy, Left Ventricular [MESH:D017379] (1430) |
|
|
Cardiomyopathy, Dilated, 1s [MESH:C563538] (77) |
|
|
Cardiomyopathy, Dilated, 1p [MESH:C563690] (45) |
|
|
Cardiomyopathy, Dilated, 2a [MESH:C567505] (51) |
|
|
Cardiomyopathy, Dilated, 1FF [MESH:C567654] (51) |
|
|
Cardiomyopathy, Dilated, 1EE [MESH:C567683] (61) |
|
|
Systemic carnitine deficiency [MESH:C536778] (92) |
|
|
Diabetic Cardiomyopathies [MESH:D058065] (1995) |
|
|
Myocardial Reperfusion Injury [MESH:D015428] (3500) |
|
|
Myocarditis [MESH:D009205] (1708) |
|
|
Cardiomyopathy, Dilated, 1s [MESH:C563538] (77) |
|
|
Cardiomyopathy, Dilated, 1p [MESH:C563690] (45) |
|
|
Cardiomyopathy, Dilated, 2a [MESH:C567505] (51) |
|
|
Cardiomyopathy, Dilated, 1FF [MESH:C567654] (51) |
|
|
Cardiomyopathy, Dilated, 1EE [MESH:C567683] (61) |
|
|
|
|
|
Cardiomyopathy, Familial Hypertrophic, 10 [MESH:C563865] (42) |
|
|
Cardiomyopathy, Familial Hypertrophic, 1 [MESH:C566005] (190) |
|
|
Cardiomyopathy, Familial Hypertrophic, 14 [MESH:C567684] (61) |
|
|
Cardiomyopathy, Familial Restrictive, 1 [MESH:C566168] (51) |
|
|
Cardiofaciocutaneous syndrome [MESH:C535579] (407) |
|
|
VATER association [MESH:C536534] (46) |
|
|
Short QT Syndrome 1 [MESH:C566506] (189) |
|
|
Marfan Syndrome [MESH:D008382] (646) |
|
|
Tetralogy of Fallot [MESH:D013771] (121) |
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Heart Septal Defects, Atrial [MESH:D006344] (209) |
|
|
Heart Septal Defects, Ventricular [MESH:D006345] (160) |
|
|
LEOPARD syndrome, 2 [MESH:C537117] (169) |
|
|
Noonan Syndrome 5 [MESH:C548083] (169) |
|
|
Noonan Syndrome 6 [MESH:C548084] (44) |
|
|
|
|
|
Carney Complex Variant [MESH:C563845] (10) |
|
|
Aortic Valve Insufficiency [MESH:D001022] (1002) |
|
|
Aortic Valve, Calcification of [MESH:C562942] (655) |
|
|
Cardiomyopathy, Hypertrophic [MESH:D002312] (1451) |
|
|
|
|
|
LEOPARD syndrome, 2 [MESH:C537117] (169) |
|
|
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 Restenosis [MESH:D023903] (1683) |
|
|
Myocardial Stunning [MESH:D017682] (1816) |
|
|
Ventricular Dysfunction, Left [MESH:D018487] (1631) |
|
|
|
|
|
Aortic Valve, Calcification of [MESH:C562942] (655) |
|
|
Angioedema [MESH:D000799] (837) |
|
|
Arteritis [MESH:D001167] (1084) |
|
|
Hyperemia [MESH:D006940] (2372) |
|
|
Hypotension [MESH:D007022] (4045) |
|
|
Peripheral Vascular Diseases [MESH:D016491] (1412) |
|
|
Varicose Veins [MESH:D014648] (383) |
|
|
Vascular System Injuries [MESH:D057772] (2086) |
|
|
|
|
|
Aortic Rupture [MESH:D001019] (637) |
|
|
Aortic Aneurysm, Abdominal [MESH:D017544] (1519) |
|
|
Aortic Aneurysm, Thoracic [MESH:D017545] (781) |
|
|
Aortic Rupture [MESH:D001019] (637) |
|
|
Sturge-Weber Syndrome [MESH:D013341] (76) |
|
|
von Hippel-Lindau Disease [MESH:D006623] (580) |
|
|
|
|
|
Aortic Aneurysm, Abdominal [MESH:D017544] (1519) |
|
|
Aortic Aneurysm, Thoracic [MESH:D017545] (781) |
|
|
Aortic Rupture [MESH:D001019] (637) |
|
|
Mesenteric Vascular Occlusion [MESH:D008641] (147) |
|
|
Atherosclerosis [MESH:D050197] (4188) |
|
|
Coronary Artery Disease [MESH:D003324] (2685) |
|
|
Capillary Malformation-Arteriovenous Malformation [MESH:C564254] (50) |
|
|
|
|
|
Ischemic Attack, Transient [MESH:D002546] (1313) |
|
|
|
|
|
Infarction, Middle Cerebral Artery [MESH:D020244] (2268) |
|
|
Carotid Artery Thrombosis [MESH:D002341] (138) |
|
|
Cerebral Amyloid Angiopathy, Familial [MESH:D028243] (377) |
|
|
|
|
|
Infarction, Middle Cerebral Artery [MESH:D020244] (2268) |
|
|
Cerebral Amyloid Angiopathy, Familial [MESH:D028243] (377) |
|
|
Carotid Artery Thrombosis [MESH:D002341] (138) |
|
|
Cerebral Hemorrhage [MESH:D002543] (2873) |
|
|
Pituitary Apoplexy [MESH:D010899] (125) |
|
|
Subarachnoid Hemorrhage [MESH:D013345] (1082) |
|
|
|
|
|
|
|
|
Infarction, Middle Cerebral Artery [MESH:D020244] (2268) |
|
|
Diabetic Retinopathy [MESH:D003930] (1371) |
|
|
|
|
|
Pulmonary Embolism [MESH:D011655] (1118) |
|
|
Venous Thromboembolism [MESH:D054556] (400) |
|
|
Carotid Artery Thrombosis [MESH:D002341] (138) |
|
|
Heparin Cofactor II Deficiency [MESH:C562865] (45) |
|
|
Venous Thrombosis [MESH:D020246] (1141) |
|
|
Venous Thromboembolism [MESH:D054556] (400) |
|
|
Carotid Artery Thrombosis [MESH:D002341] (138) |
|
|
Multiple Myeloma [MESH:D009101] (2765) |
|
|
Ehlers-Danlos syndrome type 1 [MESH:C536194] (344) |
|
|
Ehlers-Danlos syndrome, cardiac valvular form [MESH:C536200] (152) |
|
|
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant [MESH:C562625] (375) |
|
|
Hypertension, Essential [MESH:C562386] (1308) |
|
|
Hypertension, Diastolic, Resistance to [MESH:C563897] (18) |
|
|
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy [MESH:C565359] (84) |
|
|
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 Restenosis [MESH:D023903] (1683) |
|
|
Myocardial Stunning [MESH:D017682] (1816) |
|
|
Myocardial Reperfusion Injury [MESH:D015428] (3500) |
|
|
Arteritis [MESH:D001167] (1084) |
|
|
Behcet Syndrome [MESH:D001528] (1784) |
|
 |
C15. Hemic and Lymphatic Diseases |
 |
 |
|
C15. Hemic and Lymphatic Diseases |
|
|
Rh-Null, Regulator Type [MESH:C564833] (12) |
|
|
Adenosine Triphosphate, Elevated, Of Erythrocytes [MESH:C566310] (78) |
|
|
|
|
|
|
|
|
|
|
|
Diamond-Blackfan Anemia 5 [MESH:C567280] (30) |
|
|
Diamond-Blackfan Anemia 4 [MESH:C567281] (30) |
|
|
CD59 Deficiency [MESH:C567355] (57) |
|
|
Hemolytic-Uremic Syndrome [MESH:D006463] (2435) |
|
|
|
|
|
Pyruvate Kinase Deficiency of Red Cells [MESH:C564858] (78) |
|
|
Bone Marrow failure syndromes [MESH:C536572] (248) |
|
|
Anemia, Megaloblastic [MESH:D000749] (288) |
|
|
|
|
|
Diamond-Blackfan Anemia 5 [MESH:C567280] (30) |
|
|
Diamond-Blackfan Anemia 4 [MESH:C567281] (30) |
|
|
Disseminated Intravascular Coagulation [MESH:D004211] (462) |
|
|
Thrombocythemia, Essential [MESH:D013920] (707) |
|
|
Thrombasthenia [MESH:D013915] (98) |
|
|
|
|
|
Kernicterus [MESH:D007647] (256) |
|
|
Thrombasthenia [MESH:D013915] (98) |
|
|
|
|
|
Hemolytic-Uremic Syndrome [MESH:D006463] (2435) |
|
|
Thrombocythemia, Essential [MESH:D013920] (707) |
|
|
Agammaglobulinemia [MESH:D000361] (156) |
|
|
Mevalonate Kinase Deficiency [MESH:D054078] (38) |
|
|
Hypoalbuminemia [MESH:D034141] (1332) |
|
|
Multiple Myeloma [MESH:D009101] (2765) |
|
|
|
|
|
|
|
|
|
|
|
Diamond-Blackfan Anemia 5 [MESH:C567280] (30) |
|
|
Diamond-Blackfan Anemia 4 [MESH:C567281] (30) |
|
|
Leukemia, Myelomonocytic, Juvenile [MESH:D054429] (344) |
|
|
|
|
|
Bone Marrow failure syndromes [MESH:C536572] (248) |
|
|
Leukemia, Myelogenous, Chronic, BCR-ABL Positive [MESH:D015464] (1032) |
|
|
Familial myelofibrosis [MESH:C536848] (21) |
|
|
Thrombocythemia, Essential [MESH:D013920] (707) |
|
|
Disseminated Intravascular Coagulation [MESH:D004211] (462) |
|
|
Thrombasthenia [MESH:D013915] (98) |
|
|
Thrombocythemia, Essential [MESH:D013920] (707) |
|
|
Multiple Myeloma [MESH:D009101] (2765) |
|
|
Ehlers-Danlos syndrome type 1 [MESH:C536194] (344) |
|
|
Ehlers-Danlos syndrome, cardiac valvular form [MESH:C536200] (152) |
|
|
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant [MESH:C562625] (375) |
|
|
Leukostasis [MESH:D018921] (769) |
|
|
Pelger-Huet Anomaly [MESH:D010381] (28) |
|
|
Reticuloendotheliosis, familial, with eosinophilia [MESH:C538564] (44) |
|
|
|
|
|
|
|
|
Neutropenia, Severe Congenital, Autosomal Recessive 3 [MESH:C537592] (21) |
|
|
|
|
|
Granulomatous Disease, Chronic, X-Linked [MESH:C564417] (111) |
|
|
NADH cytochrome B5 reductase deficiency [MESH:C537841] (66) |
|
|
Erythrocytosis, Familial, 2 [MESH:C563918] (39) |
|
|
Disseminated Intravascular Coagulation [MESH:D004211] (462) |
|
|
Splenic Diseases [MESH:D013158] (1323) |
|
|
|
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Agammaglobulinemia [MESH:D000361] (156) |
|
|
Autoimmune Lymphoproliferative Syndrome [MESH:D056735] (704) |
|
|
Sarcoidosis [MESH:D012507] (895) |
|
|
Leukemia, T-Cell [MESH:D015458] (395) |
|
|
Leukemia, Lymphocytic, Chronic, B-Cell [MESH:D015451] (2562) |
|
|
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, AIDS-Related [MESH:D016483] (278) |
|
|
Lymphoma, Large B-Cell, Diffuse [MESH:D016403] (2012) |
|
|
Lymphoma, T-Cell, Cutaneous [MESH:D016410] (912) |
|
 |
C16. Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
 |
 |
|
C16. Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
|
|
|
|
|
|
|
|
Hecht syndrome [MESH:C535857] (10) |
|
|
Multiple pterygium syndrome [MESH:C537377] (23) |
|
|
Bamforth syndrome [MESH:C537901] (186) |
|
|
Lacrimoauriculodentodigital syndrome [MESH:C538132] (149) |
|
|
Beta-Ureidopropionase Deficiency [MESH:C563210] (35) |
|
|
Alagille Syndrome [MESH:D016738] (105) |
|
|
Angelman Syndrome [MESH:D017204] (124) |
|
|
Bardet-Biedl Syndrome [MESH:D020788] (110) |
|
|
Basal Cell Nevus Syndrome [MESH:D001478] (67) |
|
|
Costello Syndrome [MESH:D056685] (407) |
|
|
De Lange Syndrome [MESH:D003635] (55) |
|
|
Down Syndrome [MESH:D004314] (1287) |
|
|
Marfan Syndrome [MESH:D008382] (646) |
|
|
Prader-Willi Syndrome [MESH:D011218] (46) |
|
|
Wolf-Hirschhorn Syndrome [MESH:D054877] (72) |
|
|
Zellweger Syndrome [MESH:D015211] (182) |
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Carney Complex Variant [MESH:C563845] (10) |
|
|
|
|
|
Usher syndrome, type 1D [MESH:C536487] (23) |
|
|
Cardiofaciocutaneous syndrome [MESH:C535579] (407) |
|
|
Zlotogora-Ogur syndrome [MESH:C536726] (25) |
|
|
Rosselli-Gulienetti Syndrome [MESH:C563117] (25) |
|
|
Holoprosencephaly 7 [MESH:C563660] (46) |
|
|
Holoprosencephaly 3 [MESH:C564181] (50) |
|
|
LEOPARD syndrome, 2 [MESH:C537117] (169) |
|
|
|
|
|
Cardiofaciocutaneous syndrome [MESH:C535579] (407) |
|
|
VATER association [MESH:C536534] (46) |
|
|
Short QT Syndrome 1 [MESH:C566506] (189) |
|
|
Alagille Syndrome [MESH:D016738] (105) |
|
|
Marfan Syndrome [MESH:D008382] (646) |
|
|
Tetralogy of Fallot [MESH:D013771] (121) |
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Heart Septal Defects, Atrial [MESH:D006344] (209) |
|
|
Heart Septal Defects, Ventricular [MESH:D006345] (160) |
|
|
LEOPARD syndrome, 2 [MESH:C537117] (169) |
|
|
Long Qt Syndrome 2 [MESH:C563614] (189) |
|
|
Noonan Syndrome 5 [MESH:C548083] (169) |
|
|
Noonan Syndrome 6 [MESH:C548084] (44) |
|
|
|
|
|
Capillary Malformation-Arteriovenous Malformation [MESH:C564254] (50) |
|
|
Angelman Syndrome [MESH:D017204] (124) |
|
|
De Lange Syndrome [MESH:D003635] (55) |
|
|
Down Syndrome [MESH:D004314] (1287) |
|
|
Prader-Willi Syndrome [MESH:D011218] (46) |
|
|
WAGR Syndrome [MESH:D017624] (270) |
|
|
Wolf-Hirschhorn Syndrome [MESH:D054877] (72) |
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Holoprosencephaly 7 [MESH:C563660] (46) |
|
|
Holoprosencephaly 3 [MESH:C564181] (50) |
|
|
Currarino triad [MESH:C536221] (47) |
|
|
Hirschsprung Disease [MESH:D006627] (361) |
|
|
VATER association [MESH:C536534] (46) |
|
|
|
|
|
WAGR Syndrome [MESH:D017624] (270) |
|
|
Microphthalmia, Isolated, with Coloboma 5 [MESH:C566899] (50) |
|
|
Microphthalmia, Syndromic 6 [MESH:C566440] (101) |
|
|
Microphthalmia, Isolated, with Coloboma 5 [MESH:C566899] (50) |
|
|
|
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
|
|
|
Arthrogryposis renal dysfunction cholestasis syndrome [MESH:C535382] (23) |
|
|
Hecht syndrome [MESH:C535857] (10) |
|
|
Distal arthrogryposis type 2B [MESH:C538400] (85) |
|
|
Hypotonia-Cystinuria Syndrome [MESH:C564710] (52) |
|
|
Cleidocranial Dysplasia [MESH:D002973] (129) |
|
|
Craniofacial Dysostosis [MESH:D003394] (391) |
|
|
Microcephaly [MESH:D008831] (700) |
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Jackson-Weiss syndrome [MESH:C537559] (149) |
|
|
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) |
|
|
Holoprosencephaly 7 [MESH:C563660] (46) |
|
|
Holoprosencephaly 3 [MESH:C564181] (50) |
|
|
LEOPARD syndrome, 2 [MESH:C537117] (169) |
|
|
|
|
|
|
|
|
Zlotogora-Ogur syndrome [MESH:C536726] (25) |
|
|
Bamforth syndrome [MESH:C537901] (186) |
|
|
Rosselli-Gulienetti Syndrome [MESH:C563117] (25) |
|
|
Orofacial Cleft 5 [MESH:C563843] (38) |
|
|
Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65) |
|
|
Microtia, Hearing Impairment, And Cleft Palate [MESH:C567359] (30) |
|
|
Orofacial Cleft 11 [MESH:C567410] (101) |
|
|
Noonan Syndrome 5 [MESH:C548083] (169) |
|
|
Noonan Syndrome 6 [MESH:C548084] (44) |
|
|
Plagiocephaly, Nonsynostotic [MESH:D049068] (85) |
|
|
Jackson-Weiss syndrome [MESH:C537559] (149) |
|
|
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) |
|
|
Acromicric dysplasia [MESH:C535662] (520) |
|
|
Microphthalmia, Syndromic 6 [MESH:C566440] (101) |
|
|
Metaphyseal Anadysplasia 2 [MESH:C567771] (452) |
|
|
Brachydactyly [MESH:D059327] (220) |
|
|
Lower Extremity Deformities, Congenital [MESH:D038061] (81) |
|
|
Jackson-Weiss syndrome [MESH:C537559] (149) |
|
|
Zlotogora-Ogur syndrome [MESH:C536726] (25) |
|
|
Lacrimoauriculodentodigital syndrome [MESH:C538132] (149) |
|
|
Rosselli-Gulienetti Syndrome [MESH:C563117] (25) |
|
|
Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149) |
|
|
Antley-Bixler Syndrome Phenotype [MESH:D054882] (284) |
|
|
Jackson-Weiss syndrome [MESH:C537559] (149) |
|
|
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) |
|
|
Zlotogora-Ogur syndrome [MESH:C536726] (25) |
|
|
Lacrimoauriculodentodigital syndrome [MESH:C538132] (149) |
|
|
Rosselli-Gulienetti Syndrome [MESH:C563117] (25) |
|
|
Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149) |
|
|
Microphthalmia, Syndromic 6 [MESH:C566440] (101) |
|
|
Acrocallosal Syndrome [MESH:D055673] (43) |
|
|
Holoprosencephaly 7 [MESH:C563660] (46) |
|
|
Holoprosencephaly 3 [MESH:C564181] (50) |
|
|
|
|
|
Hereditary Motor And Sensory Neuropathy, Type IIC [MESH:C565261] (39) |
|
|
Spastic paraplegia 13, autosomal dominant [MESH:C537485] (178) |
|
|
Holoprosencephaly 7 [MESH:C563660] (46) |
|
|
Holoprosencephaly 3 [MESH:C564181] (50) |
|
|
Microcephaly [MESH:D008831] (700) |
|
|
Classical Lissencephalies and Subcortical Band Heterotopias [MESH:D054221] (114) |
|
|
Classical Lissencephalies and Subcortical Band Heterotopias [MESH:D054221] (114) |
|
|
Spinal Dysraphism [MESH:D016135] (1025) |
|
|
Knobloch syndrome [MESH:C537209] (70) |
|
|
Multiple pterygium syndrome [MESH:C537377] (23) |
|
|
Cutis Gyrata Syndrome of Beare And Stevenson [MESH:C565129] (85) |
|
|
Carney Complex Variant [MESH:C563845] (10) |
|
|
Cardiofaciocutaneous syndrome [MESH:C535579] (407) |
|
|
Zlotogora-Ogur syndrome [MESH:C536726] (25) |
|
|
Rosselli-Gulienetti Syndrome [MESH:C563117] (25) |
|
|
Ehlers-Danlos syndrome type 1 [MESH:C536194] (344) |
|
|
Ehlers-Danlos syndrome, cardiac valvular form [MESH:C536200] (152) |
|
|
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant [MESH:C562625] (375) |
|
|
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness [MESH:C563798] (43) |
|
|
|
|
|
|
|
|
Ichthyosiform erythroderma, Brocq congenital, nonbullous form [MESH:C538603] (62) |
|
|
Capillary Malformation-Arteriovenous Malformation [MESH:C564254] (50) |
|
|
|
|
|
|
|
|
|
|
|
Zlotogora-Ogur syndrome [MESH:C536726] (25) |
|
|
Bamforth syndrome [MESH:C537901] (186) |
|
|
Rosselli-Gulienetti Syndrome [MESH:C563117] (25) |
|
|
Orofacial Cleft 5 [MESH:C563843] (38) |
|
|
Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65) |
|
|
Microtia, Hearing Impairment, And Cleft Palate [MESH:C567359] (30) |
|
|
Orofacial Cleft 11 [MESH:C567410] (101) |
|
|
Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (85) |
|
|
|
|
|
Rosselli-Gulienetti Syndrome [MESH:C563117] (25) |
|
|
Orofacial Cleft 5 [MESH:C563843] (38) |
|
|
Orofacial Cleft 11 [MESH:C567410] (101) |
|
|
Zlotogora-Ogur syndrome [MESH:C536726] (25) |
|
|
Bamforth syndrome [MESH:C537901] (186) |
|
|
Rosselli-Gulienetti Syndrome [MESH:C563117] (25) |
|
|
Orofacial Cleft 5 [MESH:C563843] (38) |
|
|
Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65) |
|
|
Microtia, Hearing Impairment, And Cleft Palate [MESH:C567359] (30) |
|
|
Orofacial Cleft 11 [MESH:C567410] (101) |
|
|
Lacrimoauriculodentodigital syndrome [MESH:C538132] (149) |
|
|
Witkop syndrome [MESH:C536736] (38) |
|
|
Single upper central incisor [MESH:C537342] (50) |
|
|
Hypothyroidism, Congenital, Nongoitrous, 2 [MESH:C566852] (30) |
|
|
Allanson Pantzar McLeod syndrome [MESH:C537048] (503) |
|
|
Rosselli-Gulienetti Syndrome [MESH:C563117] (25) |
|
|
Microphthalmia, Syndromic 6 [MESH:C566440] (101) |
|
|
Cryptorchidism [MESH:D003456] (215) |
|
|
|
|
|
Aromatase deficiency [MESH:C537436] (277) |
|
|
Persistent Mullerian duct syndrome [MESH:C536665] (47) |
|
|
17-Hydroxysteroid Dehydrogenase Deficiency [MESH:C537805] (52) |
|
|
Denys-Drash Syndrome [MESH:D030321] (57) |
|
|
Frasier Syndrome [MESH:D052159] (57) |
|
|
Kallmann Syndrome [MESH:D017436] (147) |
|
|
WAGR Syndrome [MESH:D017624] (270) |
|
|
Meacham Winn Culler syndrome [MESH:C538162] (57) |
|
|
Sexual Infantilism [MESH:D050035] (277) |
|
|
Meacham Winn Culler syndrome [MESH:C538162] (57) |
|
|
ACTH Deficiency, Isolated [MESH:C562707] (124) |
|
|
Alagille Syndrome [MESH:D016738] (105) |
|
|
Autoimmune Lymphoproliferative Syndrome [MESH:D056735] (704) |
|
|
Camurati-Engelmann Syndrome [MESH:D003966] (492) |
|
|
Costello Syndrome [MESH:D056685] (407) |
|
|
Cystic Fibrosis [MESH:D003550] (760) |
|
|
Frasier Syndrome [MESH:D052159] (57) |
|
|
Hyperthyroxinemia, Familial Dysalbuminemic [MESH:D050010] (478) |
|
|
Kallmann Syndrome [MESH:D017436] (147) |
|
|
Marfan Syndrome [MESH:D008382] (646) |
|
|
Pelger-Huet Anomaly [MESH:D010381] (28) |
|
|
Polycystic Kidney, Autosomal Recessive [MESH:D017044] (462) |
|
|
|
|
|
Pyruvate Kinase Deficiency of Red Cells [MESH:C564858] (78) |
|
|
|
|
|
Diamond-Blackfan Anemia 5 [MESH:C567280] (30) |
|
|
Diamond-Blackfan Anemia 4 [MESH:C567281] (30) |
|
|
Thrombasthenia [MESH:D013915] (98) |
|
|
Cardiomyopathy, Familial Hypertrophic, 10 [MESH:C563865] (42) |
|
|
Cardiomyopathy, Familial Hypertrophic, 1 [MESH:C566005] (190) |
|
|
Cardiomyopathy, Familial Hypertrophic, 14 [MESH:C567684] (61) |
|
|
Angelman Syndrome [MESH:D017204] (124) |
|
|
De Lange Syndrome [MESH:D003635] (55) |
|
|
Down Syndrome [MESH:D004314] (1287) |
|
|
Prader-Willi Syndrome [MESH:D011218] (46) |
|
|
WAGR Syndrome [MESH:D017624] (270) |
|
|
Wolf-Hirschhorn Syndrome [MESH:D054877] (72) |
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Holoprosencephaly 7 [MESH:C563660] (46) |
|
|
Holoprosencephaly 3 [MESH:C564181] (50) |
|
|
Parastremmatic dwarfism [MESH:C537172] (39) |
|
|
Metatropic dwarfism [MESH:C537356] (39) |
|
|
Isolated Growth Hormone Deficiency, Type IB [MESH:C567564] (140) |
|
|
Hypothyroidism, Congenital, Nongoitrous, 2 [MESH:C566852] (30) |
|
|
Night blindness, congenital stationary [MESH:C536122] (37) |
|
|
Fibrosis Of Extraocular Muscles, Congenital, 2 [MESH:C566587] (18) |
|
|
Cataract, Congenital Nuclear, Autosomal Recessive 3 [MESH:C566923] (8) |
|
|
Duane Retraction Syndrome [MESH:D004370] (43) |
|
|
|
|
|
Griscelli syndrome type 1 [MESH:C537301] (42) |
|
|
WAGR Syndrome [MESH:D017624] (270) |
|
|
Optic atrophy 1 and deafness [MESH:C537124] (30) |
|
|
Optic Atrophy, Autosomal Dominant [MESH:D029241] (31) |
|
|
Retinal cone dystrophy 2 [MESH:C538363] (11) |
|
|
Cone-Rod Dystrophy 5 [MESH:C563415] (19) |
|
|
Cone-Rod Dystrophy 7 [MESH:C566350] (11) |
|
|
Usher syndrome, type 1D [MESH:C536487] (23) |
|
|
Night blindness, congenital stationary [MESH:C536122] (37) |
|
|
Muscular Dystrophy, Duchenne [MESH:D020388] (942) |
|
|
Granulomatous Disease, Chronic, X-Linked [MESH:C564417] (111) |
|
|
Lubs X-linked mental retardation syndrome [MESH:C537723] (44) |
|
|
Mental Retardation, X-Linked, Syndromic 13 [MESH:C566875] (44) |
|
|
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations [MESH:C566878] (44) |
|
|
Classical Lissencephalies and Subcortical Band Heterotopias [MESH:D054221] (114) |
|
|
Rett Syndrome [MESH:D015518] (143) |
|
|
Cryopyrin-Associated Periodic Syndromes [MESH:D056587] (102) |
|
|
Mevalonate Kinase Deficiency [MESH:D054078] (38) |
|
|
Canavan Disease [MESH:D017825] (29) |
|
|
Huntington Disease [MESH:D006816] (540) |
|
|
Rett Syndrome [MESH:D015518] (143) |
|
|
Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178) |
|
|
|
|
|
Hereditary Motor And Sensory Neuropathy, Type IIC [MESH:C565261] (39) |
|
|
Spastic paraplegia 13, autosomal dominant [MESH:C537485] (178) |
|
|
Lubs X-linked mental retardation syndrome [MESH:C537723] (44) |
|
|
Mental Retardation, X-Linked, Syndromic 13 [MESH:C566875] (44) |
|
|
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations [MESH:C566878] (44) |
|
|
Rett Syndrome [MESH:D015518] (143) |
|
|
Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946) |
|
|
Ceroid Lipofuscinosis, Neuronal, 10 [MESH:C566438] (159) |
|
|
Ceroid Lipofuscinosis, Neuronal, 2 [MESH:C566857] (39) |
|
|
Optic atrophy 1 and deafness [MESH:C537124] (30) |
|
|
Optic Atrophy, Autosomal Dominant [MESH:D029241] (31) |
|
|
Spinocerebellar Ataxia 29 [MESH:C537206] (90) |
|
|
Spinocerebellar Ataxia 15 [MESH:C564685] (90) |
|
|
Machado-Joseph Disease [MESH:D017827] (37) |
|
|
3-Hydroxyacyl-CoA Dehydrogenase Deficiency [MESH:C535310] (80) |
|
|
Butyrylcholinesterase deficiency [MESH:C537417] (176) |
|
|
Aromatase deficiency [MESH:C537436] (277) |
|
|
Xanthinuria, Type I [MESH:C562584] (190) |
|
|
Combined Oxidative Phosphorylation Deficiency 1 [MESH:C563797] (24) |
|
|
Mitochondrial Complex II Deficiency [MESH:C565375] (66) |
|
|
Hydroxykynureninuria [MESH:C536081] (52) |
|
|
Methylmalonic acidemia [MESH:C537358] (764) |
|
|
Glycine N-Methyltransferase Deficiency [MESH:C564683] (72) |
|
|
Methylmalonic Aciduria and Homocystinuria, CblF Type [MESH:C564747] (21) |
|
|
Hyperglycinemia, Nonketotic [MESH:D020158] (67) |
|
|
Hyperhomocysteinemia [MESH:D020138] (1724) |
|
|
Maple Syrup Urine Disease [MESH:D008375] (127) |
|
|
|
|
|
Griscelli syndrome type 1 [MESH:C537301] (42) |
|
|
Hyperphenylalaninemia, BH4-Deficient, B [MESH:C562656] (97) |
|
|
Hyperargininemia [MESH:D020162] (109) |
|
|
Amyloidosis, familial visceral [MESH:C538249] (285) |
|
|
Cerebral Amyloid Angiopathy, Familial [MESH:D028243] (377) |
|
|
Cerebral Amyloid Angiopathy, Familial [MESH:D028243] (377) |
|
|
Hyperglycinemia, Nonketotic [MESH:D020158] (67) |
|
|
Leigh Disease [MESH:D007888] (206) |
|
|
Maple Syrup Urine Disease [MESH:D008375] (127) |
|
|
Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178) |
|
|
Canavan Disease [MESH:D017825] (29) |
|
|
Sialic Acid Storage Disease [MESH:D029461] (63) |
|
|
Farber Lipogranulomatosis [MESH:D055577] (62) |
|
|
Gaucher Disease [MESH:D005776] (299) |
|
|
Peroxisome biogenesis disorders [MESH:C536664] (101) |
|
|
Mevalonate Kinase Deficiency [MESH:D054078] (38) |
|
|
Refsum Disease, Infantile [MESH:D052919] (51) |
|
|
Zellweger Syndrome [MESH:D015211] (182) |
|
|
Hyperphenylalaninemia, BH4-Deficient, B [MESH:C562656] (97) |
|
|
Hyperargininemia [MESH:D020162] (109) |
|
|
Hyperglycerolemia [MESH:C538138] (46) |
|
|
Fructose-1,6-Diphosphatase Deficiency [MESH:D015319] (72) |
|
|
Fructose Intolerance [MESH:D005633] (59) |
|
|
Glycogen Storage Disease Type V [MESH:D006012] (165) |
|
|
Glycogen Storage Disease Type VII [MESH:D006014] (37) |
|
|
Primary hyperoxaluria type 1 [MESH:C536414] (48) |
|
|
Mucopolysaccharidosis VII [MESH:D016538] (88) |
|
|
Pyruvate Kinase Deficiency of Red Cells [MESH:C564858] (78) |
|
|
Leigh Disease [MESH:D007888] (206) |
|
|
Hyperbilirubinemia, Transient Familial Neonatal [MESH:C562692] (254) |
|
|
Gilbert Disease [MESH:D005878] (259) |
|
|
Crigler Najjar syndrome, type 2 [MESH:C536213] (254) |
|
|
Medium chain acyl CoA dehydrogenase deficiency [MESH:C536038] (92) |
|
|
VLCAD deficiency [MESH:C536353] (55) |
|
|
Hyperlipidemia, Familial Combined [MESH:D006950] (372) |
|
|
Hyperlipoproteinemia Type II [MESH:D006938] (707) |
|
|
|
|
|
Lecithin Acyltransferase Deficiency [MESH:D007863] (72) |
|
|
|
|
|
Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946) |
|
|
Ceroid Lipofuscinosis, Neuronal, 10 [MESH:C566438] (159) |
|
|
Ceroid Lipofuscinosis, Neuronal, 2 [MESH:C566857] (39) |
|
|
Farber Lipogranulomatosis [MESH:D055577] (62) |
|
|
Gaucher Disease [MESH:D005776] (299) |
|
|
|
|
|
Sialic Acid Storage Disease [MESH:D029461] (63) |
|
|
Farber Lipogranulomatosis [MESH:D055577] (62) |
|
|
Gaucher Disease [MESH:D005776] (299) |
|
|
Mucopolysaccharidosis VII [MESH:D016538] (88) |
|
|
Hemochromatosis [MESH:D006432] (1694) |
|
|
|
|
|
Vitamin D Hydroxylation-Deficient Rickets, Type 1A [MESH:C562688] (58) |
|
|
Hypophosphatemic Rickets, Autosomal Recessive, 2 [MESH:C567647] (48) |
|
|
Albright's hereditary osteodystrophy [MESH:C537045] (82) |
|
|
Pseudohypoparathyroidism Type 1B [MESH:C548075] (82) |
|
|
Pseudopseudohypoparathyroidism [MESH:D011556] (82) |
|
|
Peroxisome biogenesis disorders [MESH:C536664] (101) |
|
|
Mevalonate Kinase Deficiency [MESH:D054078] (38) |
|
|
Refsum Disease, Infantile [MESH:D052919] (51) |
|
|
Zellweger Syndrome [MESH:D015211] (182) |
|
|
Rhizomelic chondrodysplasia punctata, type 3 [MESH:C537608] (26) |
|
|
|
|
|
Porphyria, Acute Intermittent [MESH:D017118] (61) |
|
|
Adenosine monophosphate deaminase deficiency [MESH:C538234] (13) |
|
|
Beta-Ureidopropionase Deficiency [MESH:C563210] (35) |
|
|
Hypomagnesemia 2, renal [MESH:C537152] (38) |
|
|
Hypomagnesemia primary [MESH:C537153] (35) |
|
|
Fanconi Syndrome [MESH:D005198] (253) |
|
|
Liddle Syndrome [MESH:D056929] (200) |
|
|
Pseudohypoaldosteronism [MESH:D011546] (232) |
|
|
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation [MESH:C567038] (48) |
|
|
|
|
|
Vitamin D Hydroxylation-Deficient Rickets, Type 1A [MESH:C562688] (58) |
|
|
Hypophosphatemic Rickets, Autosomal Recessive, 2 [MESH:C567647] (48) |
|
|
|
|
|
Hypotonia-Cystinuria Syndrome [MESH:C564710] (52) |
|
|
17-Hydroxysteroid Dehydrogenase Deficiency [MESH:C537805] (52) |
|
|
Hypercholanemia, Familial [MESH:C564336] (58) |
|
|
Antley-Bixler Syndrome Phenotype [MESH:D054882] (284) |
|
|
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency [MESH:C567709] (41) |
|
|
Glycogen Storage Disease Type VII [MESH:D006014] (37) |
|
|
Muscular Dystrophy, Duchenne [MESH:D020388] (942) |
|
|
Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854) |
|
|
Distal myopathy, Nonaka type [MESH:C536816] (40) |
|
|
Limb-girdle muscular dystrophy type 2A [MESH:C535895] (14) |
|
|
Myasthenic syndrome, congenital, postsynaptic slow-channel [MESH:C536091] (73) |
|
|
Myasthenic Syndrome, Congenital, Fast-Channel [MESH:C563832] (58) |
|
|
Basal Cell Nevus Syndrome [MESH:D001478] (67) |
|
|
Hamartoma Syndrome, Multiple [MESH:D006223] (260) |
|
|
Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143) |
|
|
Li-Fraumeni Syndrome [MESH:D016864] (859) |
|
|
Denys-Drash Syndrome [MESH:D030321] (57) |
|
|
WAGR Syndrome [MESH:D017624] (270) |
|
|
Osteogenesis imperfecta, type 2A [MESH:C536042] (375) |
|
|
Osteogenesis imperfecta, type 3 [MESH:C536044] (375) |
|
|
Osteogenesis imperfecta, type 4 [MESH:C536045] (375) |
|
|
Osteogenesis Imperfecta, Type IX [MESH:C564921] (46) |
|
|
Osseous Heteroplasia, Progressive [MESH:C562735] (82) |
|
|
Dermatitis, Atopic [MESH:D003876] (2052) |
|
|
|
|
|
Griscelli syndrome type 1 [MESH:C537301] (42) |
|
|
Cardiofaciocutaneous syndrome [MESH:C535579] (407) |
|
|
Zlotogora-Ogur syndrome [MESH:C536726] (25) |
|
|
Rosselli-Gulienetti Syndrome [MESH:C563117] (25) |
|
|
Ehlers-Danlos syndrome type 1 [MESH:C536194] (344) |
|
|
Ehlers-Danlos syndrome, cardiac valvular form [MESH:C536200] (152) |
|
|
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant [MESH:C562625] (375) |
|
|
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness [MESH:C563798] (43) |
|
|
|
|
|
Ichthyosiform erythroderma, Brocq congenital, nonbullous form [MESH:C538603] (62) |
|
|
|
|
|
Keratosis palmoplantaris with periodontopathia and onychogryposis [MESH:C537627] (73) |
|
|
Porokeratosis, disseminated superficial actinic 1 [MESH:C536339] (52) |
|
|
Porphyria, Acute Intermittent [MESH:D017118] (61) |
|
|
Diabetes Mellitus, Transient Neonatal, 2 [MESH:C563672] (42) |
|
|
Congenital Hyperinsulinism [MESH:D044903] (132) |
|
|
Cystic Fibrosis [MESH:D003550] (760) |
|
|
Hernia, Umbilical [MESH:D006554] (115) |
|
|
Infant, Premature, Diseases [MESH:D007235] (1292) |
|
|
Kernicterus [MESH:D007647] (256) |
|
|
Hyperbilirubinemia, Transient Familial Neonatal [MESH:C562692] (254) |
|
|
|
|
|
|
|
|
Ichthyosiform erythroderma, Brocq congenital, nonbullous form [MESH:C538603] (62) |
|
|
Severe combined immunodeficiency with sensitivity to ionizing radiation [MESH:C537589] (23) |
|
|
Reticuloendotheliosis, familial, with eosinophilia [MESH:C538564] (44) |
|
|
Bare Lymphocyte Syndrome, Type I [MESH:C565759] (101) |
|
 |
C17. Skin and Connective Tissue Diseases |
 |
 |
|
C17. Skin and Connective Tissue Diseases |
|
|
Marfan Syndrome [MESH:D008382] (646) |
|
|
Penile Induration [MESH:D010411] (495) |
|
|
Keloid [MESH:D007627] (1111) |
|
|
Ehlers-Danlos syndrome type 1 [MESH:C536194] (344) |
|
|
Ehlers-Danlos syndrome, cardiac valvular form [MESH:C536200] (152) |
|
|
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant [MESH:C562625] (375) |
|
|
Osteogenesis imperfecta, type 2A [MESH:C536042] (375) |
|
|
Osteogenesis imperfecta, type 3 [MESH:C536044] (375) |
|
|
Osteogenesis imperfecta, type 4 [MESH:C536045] (375) |
|
|
Osteogenesis Imperfecta, Type IX [MESH:C564921] (46) |
|
|
Lupus Nephritis [MESH:D008181] (602) |
|
|
|
|
|
Mucopolysaccharidosis VII [MESH:D016538] (88) |
|
|
Noonan Syndrome 5 [MESH:C548083] (169) |
|
|
Noonan Syndrome 6 [MESH:C548084] (44) |
|
|
Arthritis, Juvenile [MESH:D001171] (1060) |
|
|
Arthritis, Rheumatoid [MESH:D001172] (3603) |
|
|
Exanthema [MESH:D005076] (301) |
|
|
Pruritus [MESH:D011537] (647) |
|
|
Chloracne [MESH:D054506] (1274) |
|
|
|
|
|
Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143) |
|
|
Aromatase deficiency [MESH:C537436] (277) |
|
|
17-Hydroxysteroid Dehydrogenase Deficiency [MESH:C537805] (52) |
|
|
Dermatitis, Atopic [MESH:D003876] (2052) |
|
|
Eczema [MESH:D004485] (235) |
|
|
Dermatitis, Allergic Contact [MESH:D017449] (3241) |
|
|
Dermatitis, Occupational [MESH:D009783] (311) |
|
|
Serum Sickness [MESH:D012713] (484) |
|
|
Stevens-Johnson Syndrome [MESH:D013262] (1163) |
|
|
|
|
|
Stevens-Johnson Syndrome [MESH:D013262] (1163) |
|
|
|
|
|
Chloracne [MESH:D054506] (1274) |
|
|
Bamforth syndrome [MESH:C537901] (186) |
|
|
Marie Unna congenital hypotrichosis [MESH:C535912] (24) |
|
|
Alopecia universalis [MESH:C537055] (23) |
|
|
Atrichia with Papular Lesions [MESH:C565924] (23) |
|
|
Alopecia Areata [MESH:D000506] (168) |
|
|
|
|
|
|
|
|
|
|
|
Ichthyosiform erythroderma, Brocq congenital, nonbullous form [MESH:C538603] (62) |
|
|
|
|
|
Keratosis palmoplantaris with periodontopathia and onychogryposis [MESH:C537627] (73) |
|
|
Porokeratosis, disseminated superficial actinic 1 [MESH:C536339] (52) |
|
|
Griscelli syndrome type 1 [MESH:C537301] (42) |
|
|
Cafe-au-Lait Spots [MESH:D019080] (186) |
|
|
|
|
|
|
|
|
Cutis Gyrata Syndrome of Beare And Stevenson [MESH:C565129] (85) |
|
|
|
|
|
LEOPARD syndrome, 2 [MESH:C537117] (169) |
|
|
Vitiligo [MESH:D014820] (504) |
|
|
|
|
|
Griscelli syndrome type 1 [MESH:C537301] (42) |
|
|
Cutis Gyrata Syndrome of Beare And Stevenson [MESH:C565129] (85) |
|
|
Sebaceous Gland Neoplasms [MESH:D012626] (154) |
|
|
Multiple pterygium syndrome [MESH:C537377] (23) |
|
|
Cutis Gyrata Syndrome of Beare And Stevenson [MESH:C565129] (85) |
|
|
Cardiofaciocutaneous syndrome [MESH:C535579] (407) |
|
|
Zlotogora-Ogur syndrome [MESH:C536726] (25) |
|
|
Rosselli-Gulienetti Syndrome [MESH:C563117] (25) |
|
|
Ehlers-Danlos syndrome type 1 [MESH:C536194] (344) |
|
|
Ehlers-Danlos syndrome, cardiac valvular form [MESH:C536200] (152) |
|
|
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant [MESH:C562625] (375) |
|
|
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness [MESH:C563798] (43) |
|
|
|
|
|
|
|
|
Ichthyosiform erythroderma, Brocq congenital, nonbullous form [MESH:C538603] (62) |
|
|
Capillary Malformation-Arteriovenous Malformation [MESH:C564254] (50) |
|
|
Dermatitis, Atopic [MESH:D003876] (2052) |
|
|
Eczema [MESH:D004485] (235) |
|
|
Dermatitis, Allergic Contact [MESH:D017449] (3241) |
|
|
Dermatitis, Occupational [MESH:D009783] (311) |
|
|
Osseous Heteroplasia, Progressive [MESH:C562735] (82) |
|
|
Dermatitis, Atopic [MESH:D003876] (2052) |
|
|
|
|
|
Griscelli syndrome type 1 [MESH:C537301] (42) |
|
|
Cardiofaciocutaneous syndrome [MESH:C535579] (407) |
|
|
Zlotogora-Ogur syndrome [MESH:C536726] (25) |
|
|
Rosselli-Gulienetti Syndrome [MESH:C563117] (25) |
|
|
Ehlers-Danlos syndrome type 1 [MESH:C536194] (344) |
|
|
Ehlers-Danlos syndrome, cardiac valvular form [MESH:C536200] (152) |
|
|
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant [MESH:C562625] (375) |
|
|
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness [MESH:C563798] (43) |
|
|
Cryopyrin-Associated Periodic Syndromes [MESH:D056587] (102) |
|
|
|
|
|
Ichthyosiform erythroderma, Brocq congenital, nonbullous form [MESH:C538603] (62) |
|
|
|
|
|
Keratosis palmoplantaris with periodontopathia and onychogryposis [MESH:C537627] (73) |
|
|
Porokeratosis, disseminated superficial actinic 1 [MESH:C536339] (52) |
|
|
Porphyria, Acute Intermittent [MESH:D017118] (61) |
|
|
|
|
|
Candidiasis, Chronic Mucocutaneous [MESH:D002178] (224) |
|
|
|
|
|
Leishmaniasis, Cutaneous [MESH:D016773] (2359) |
|
|
|
|
|
WHIM syndrome [MESH:C536697] (148) |
|
|
|
|
|
Mandibuloacral dysplasia with type A lipodystrophy [MESH:C535705] (490) |
|
|
|
|
|
Porphyria, Acute Intermittent [MESH:D017118] (61) |
|
|
|
|
|
Arthritis, Psoriatic [MESH:D015535] (1859) |
|
|
Behcet Syndrome [MESH:D001528] (1784) |
|
|
Angioedema [MESH:D000799] (837) |
|
|
Atrichia with Papular Lesions [MESH:C565924] (23) |
|
|
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness [MESH:C563798] (43) |
|
|
Stevens-Johnson Syndrome [MESH:D013262] (1163) |
|
|
Sebaceous Gland Neoplasms [MESH:D012626] (154) |
|
 |
C18. Nutritional and Metabolic Diseases |
 |
 |
|
C18. Nutritional and Metabolic Diseases |
|
|
Not Fully Specified [NFS] (817) |
|
|
Metabolic Syndrome X [MESH:D024821] (2151) |
|
|
|
|
|
|
|
|
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation [MESH:C567038] (48) |
|
|
Kernicterus [MESH:D007647] (256) |
|
|
Cerebral Amyloid Angiopathy, Familial [MESH:D028243] (377) |
|
|
Hyperglycinemia, Nonketotic [MESH:D020158] (67) |
|
|
Leigh Disease [MESH:D007888] (206) |
|
|
Maple Syrup Urine Disease [MESH:D008375] (127) |
|
|
Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178) |
|
|
Canavan Disease [MESH:D017825] (29) |
|
|
Sialic Acid Storage Disease [MESH:D029461] (63) |
|
|
Farber Lipogranulomatosis [MESH:D055577] (62) |
|
|
Gaucher Disease [MESH:D005776] (299) |
|
|
Peroxisome biogenesis disorders [MESH:C536664] (101) |
|
|
Mevalonate Kinase Deficiency [MESH:D054078] (38) |
|
|
Refsum Disease, Infantile [MESH:D052919] (51) |
|
|
Zellweger Syndrome [MESH:D015211] (182) |
|
|
Hyperphenylalaninemia, BH4-Deficient, B [MESH:C562656] (97) |
|
|
Hyperargininemia [MESH:D020162] (109) |
|
|
Combined Oxidative Phosphorylation Deficiency 1 [MESH:C563797] (24) |
|
|
Hypocalcemia [MESH:D006996] (378) |
|
|
Idiopathic basal ganglia calcification 1 [MESH:C536275] (139) |
|
|
Aortic Valve, Calcification of [MESH:C562942] (655) |
|
|
Tropical Calcific Pancreatitis [MESH:C564276] (33) |
|
|
Hypomagnesemia primary [MESH:C537153] (35) |
|
|
Arterial calcification of infancy [MESH:C537440] (48) |
|
|
Familial benign hypercalcemia, type 3 [MESH:C537147] (18) |
|
|
Albright's hereditary osteodystrophy [MESH:C537045] (82) |
|
|
Pseudohypoparathyroidism Type 1B [MESH:C548075] (82) |
|
|
Pseudopseudohypoparathyroidism [MESH:D011556] (82) |
|
|
|
|
|
|
|
|
Vitamin D Hydroxylation-Deficient Rickets, Type 1A [MESH:C562688] (58) |
|
|
Hypophosphatemic Rickets, Autosomal Recessive, 2 [MESH:C567647] (48) |
|
|
Li-Fraumeni Syndrome [MESH:D016864] (859) |
|
|
Severe combined immunodeficiency with sensitivity to ionizing radiation [MESH:C537589] (23) |
|
|
Reticuloendotheliosis, familial, with eosinophilia [MESH:C538564] (44) |
|
|
Bare Lymphocyte Syndrome, Type I [MESH:C565759] (101) |
|
|
|
|
|
Diabetes Mellitus, Permanent Neonatal [MESH:C563425] (321) |
|
|
Diabetes Mellitus, Transient Neonatal, 2 [MESH:C563672] (42) |
|
|
Diabetes Mellitus, Transient Neonatal, 3 [MESH:C566432] (37) |
|
|
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) |
|
|
Maturity-Onset Diabetes of the Young, Type 4 [MESH:C563451] (44) |
|
|
Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction [MESH:C565225] (56) |
|
|
Glucose Intolerance [MESH:D018149] (605) |
|
|
Hyperinsulinemic Hypoglycemia, Familial, 4 [MESH:C566493] (80) |
|
|
Congenital Hyperinsulinism [MESH:D044903] (132) |
|
|
Metabolic Syndrome X [MESH:D024821] (2151) |
|
|
Hypoglycemia, leucine-induced [MESH:C537150] (43) |
|
|
ACTH Deficiency, Isolated [MESH:C562707] (124) |
|
|
Hyperinsulinemic Hypoglycemia, Familial, 4 [MESH:C566493] (80) |
|
|
Congenital Hyperinsulinism [MESH:D044903] (132) |
|
|
|
|
|
Hemochromatosis [MESH:D006432] (1694) |
|
|
|
|
|
|
|
|
Hypercholesterolemia [MESH:D006937] (1404) |
|
|
Hyperlipidemia, Familial Combined [MESH:D006950] (372) |
|
|
Hypertriglyceridemia [MESH:D015228] (808) |
|
|
Hyperlipoproteinemia Type II [MESH:D006938] (707) |
|
|
|
|
|
Lecithin Acyltransferase Deficiency [MESH:D007863] (72) |
|
|
Hypobetalipoproteinemia, Familial, Apolipoprotein B [MESH:D052476] (131) |
|
|
Medium chain acyl CoA dehydrogenase deficiency [MESH:C536038] (92) |
|
|
VLCAD deficiency [MESH:C536353] (55) |
|
|
Mandibuloacral dysplasia with type A lipodystrophy [MESH:C535705] (490) |
|
|
|
|
|
Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946) |
|
|
Ceroid Lipofuscinosis, Neuronal, 10 [MESH:C566438] (159) |
|
|
Ceroid Lipofuscinosis, Neuronal, 2 [MESH:C566857] (39) |
|
|
Farber Lipogranulomatosis [MESH:D055577] (62) |
|
|
Gaucher Disease [MESH:D005776] (299) |
|
|
Celiac Disease [MESH:D002446] (340) |
|
|
Hyperhomocysteinemia [MESH:D020138] (1716) |
|
|
3-Hydroxyacyl-CoA Dehydrogenase Deficiency [MESH:C535310] (80) |
|
|
Butyrylcholinesterase deficiency [MESH:C537417] (176) |
|
|
Aromatase deficiency [MESH:C537436] (277) |
|
|
Xanthinuria, Type I [MESH:C562584] (190) |
|
|
Combined Oxidative Phosphorylation Deficiency 1 [MESH:C563797] (24) |
|
|
Mitochondrial Complex II Deficiency [MESH:C565375] (66) |
|
|
Hydroxykynureninuria [MESH:C536081] (52) |
|
|
Methylmalonic acidemia [MESH:C537358] (764) |
|
|
Glycine N-Methyltransferase Deficiency [MESH:C564683] (72) |
|
|
Methylmalonic Aciduria and Homocystinuria, CblF Type [MESH:C564747] (21) |
|
|
Hyperglycinemia, Nonketotic [MESH:D020158] (67) |
|
|
Hyperhomocysteinemia [MESH:D020138] (1724) |
|
|
Maple Syrup Urine Disease [MESH:D008375] (127) |
|
|
|
|
|
Griscelli syndrome type 1 [MESH:C537301] (42) |
|
|
Hyperphenylalaninemia, BH4-Deficient, B [MESH:C562656] (97) |
|
|
Hyperargininemia [MESH:D020162] (109) |
|
|
Amyloidosis, familial visceral [MESH:C538249] (285) |
|
|
Cerebral Amyloid Angiopathy, Familial [MESH:D028243] (377) |
|
|
Cerebral Amyloid Angiopathy, Familial [MESH:D028243] (377) |
|
|
Hyperglycinemia, Nonketotic [MESH:D020158] (67) |
|
|
Leigh Disease [MESH:D007888] (206) |
|
|
Maple Syrup Urine Disease [MESH:D008375] (127) |
|
|
Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178) |
|
|
Canavan Disease [MESH:D017825] (29) |
|
|
Sialic Acid Storage Disease [MESH:D029461] (63) |
|
|
Farber Lipogranulomatosis [MESH:D055577] (62) |
|
|
Gaucher Disease [MESH:D005776] (299) |
|
|
Peroxisome biogenesis disorders [MESH:C536664] (101) |
|
|
Mevalonate Kinase Deficiency [MESH:D054078] (38) |
|
|
Refsum Disease, Infantile [MESH:D052919] (51) |
|
|
Zellweger Syndrome [MESH:D015211] (182) |
|
|
Hyperphenylalaninemia, BH4-Deficient, B [MESH:C562656] (97) |
|
|
Hyperargininemia [MESH:D020162] (109) |
|
|
Hyperglycerolemia [MESH:C538138] (46) |
|
|
Fructose-1,6-Diphosphatase Deficiency [MESH:D015319] (72) |
|
|
Fructose Intolerance [MESH:D005633] (59) |
|
|
Glycogen Storage Disease Type V [MESH:D006012] (165) |
|
|
Glycogen Storage Disease Type VII [MESH:D006014] (37) |
|
|
Primary hyperoxaluria type 1 [MESH:C536414] (48) |
|
|
Mucopolysaccharidosis VII [MESH:D016538] (88) |
|
|
Pyruvate Kinase Deficiency of Red Cells [MESH:C564858] (78) |
|
|
Leigh Disease [MESH:D007888] (206) |
|
|
Hyperbilirubinemia, Transient Familial Neonatal [MESH:C562692] (254) |
|
|
Gilbert Disease [MESH:D005878] (259) |
|
|
Crigler Najjar syndrome, type 2 [MESH:C536213] (254) |
|
|
Medium chain acyl CoA dehydrogenase deficiency [MESH:C536038] (92) |
|
|
VLCAD deficiency [MESH:C536353] (55) |
|
|
Hyperlipidemia, Familial Combined [MESH:D006950] (372) |
|
|
Hyperlipoproteinemia Type II [MESH:D006938] (707) |
|
|
|
|
|
Lecithin Acyltransferase Deficiency [MESH:D007863] (72) |
|
|
|
|
|
Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946) |
|
|
Ceroid Lipofuscinosis, Neuronal, 10 [MESH:C566438] (159) |
|
|
Ceroid Lipofuscinosis, Neuronal, 2 [MESH:C566857] (39) |
|
|
Farber Lipogranulomatosis [MESH:D055577] (62) |
|
|
Gaucher Disease [MESH:D005776] (299) |
|
|
|
|
|
Sialic Acid Storage Disease [MESH:D029461] (63) |
|
|
Farber Lipogranulomatosis [MESH:D055577] (62) |
|
|
Gaucher Disease [MESH:D005776] (299) |
|
|
Mucopolysaccharidosis VII [MESH:D016538] (88) |
|
|
Hemochromatosis [MESH:D006432] (1694) |
|
|
|
|
|
Vitamin D Hydroxylation-Deficient Rickets, Type 1A [MESH:C562688] (58) |
|
|
Hypophosphatemic Rickets, Autosomal Recessive, 2 [MESH:C567647] (48) |
|
|
Albright's hereditary osteodystrophy [MESH:C537045] (82) |
|
|
Pseudohypoparathyroidism Type 1B [MESH:C548075] (82) |
|
|
Pseudopseudohypoparathyroidism [MESH:D011556] (82) |
|
|
Peroxisome biogenesis disorders [MESH:C536664] (101) |
|
|
Mevalonate Kinase Deficiency [MESH:D054078] (38) |
|
|
Refsum Disease, Infantile [MESH:D052919] (51) |
|
|
Zellweger Syndrome [MESH:D015211] (182) |
|
|
Rhizomelic chondrodysplasia punctata, type 3 [MESH:C537608] (26) |
|
|
|
|
|
Porphyria, Acute Intermittent [MESH:D017118] (61) |
|
|
Adenosine monophosphate deaminase deficiency [MESH:C538234] (13) |
|
|
Beta-Ureidopropionase Deficiency [MESH:C563210] (35) |
|
|
Hypomagnesemia 2, renal [MESH:C537152] (38) |
|
|
Hypomagnesemia primary [MESH:C537153] (35) |
|
|
Fanconi Syndrome [MESH:D005198] (253) |
|
|
Liddle Syndrome [MESH:D056929] (200) |
|
|
Pseudohypoaldosteronism [MESH:D011546] (232) |
|
|
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation [MESH:C567038] (48) |
|
|
|
|
|
Vitamin D Hydroxylation-Deficient Rickets, Type 1A [MESH:C562688] (58) |
|
|
Hypophosphatemic Rickets, Autosomal Recessive, 2 [MESH:C567647] (48) |
|
|
|
|
|
Hypotonia-Cystinuria Syndrome [MESH:C564710] (52) |
|
|
17-Hydroxysteroid Dehydrogenase Deficiency [MESH:C537805] (52) |
|
|
Hypercholanemia, Familial [MESH:C564336] (58) |
|
|
Antley-Bixler Syndrome Phenotype [MESH:D054882] (284) |
|
|
VLCAD deficiency [MESH:C536353] (55) |
|
|
Hypotonia-Cystinuria Syndrome [MESH:C564710] (52) |
|
|
Mitochondrial Complex II Deficiency [MESH:C565375] (66) |
|
|
Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178) |
|
|
Leigh Disease [MESH:D007888] (206) |
|
|
Optic Atrophy, Autosomal Dominant [MESH:D029241] (31) |
|
|
Hyperphosphatemia [MESH:D054559] (159) |
|
|
|
|
|
|
|
|
Vitamin D Hydroxylation-Deficient Rickets, Type 1A [MESH:C562688] (58) |
|
|
Hypophosphatemic Rickets, Autosomal Recessive, 2 [MESH:C567647] (48) |
|
|
|
|
|
Vitamin D Hydroxylation-Deficient Rickets, Type 1A [MESH:C562688] (58) |
|
|
Hypophosphatemic Rickets, Autosomal Recessive, 2 [MESH:C567647] (48) |
|
|
|
|
|
Porphyria, Acute Intermittent [MESH:D017118] (61) |
|
|
|
|
|
|
|
|
Amyloidosis, familial visceral [MESH:C538249] (285) |
|
|
Cerebral Amyloid Angiopathy, Familial [MESH:D028243] (377) |
|
|
Cerebral Amyloid Angiopathy, Familial [MESH:D028243] (377) |
|
|
|
|
|
Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559) |
|
|
Frontotemporal Dementia [MESH:D057180] (298) |
|
|
|
|
|
Mandibuloacral dysplasia with type A lipodystrophy [MESH:C535705] (490) |
|
|
|
|
|
Porphyria, Acute Intermittent [MESH:D017118] (61) |
|
|
Hypocalcemia [MESH:D006996] (368) |
|
|
Hyponatremia [MESH:D007010] (789) |
|
|
Water Intoxication [MESH:D014869] (106) |
|
|
Familial benign hypercalcemia, type 3 [MESH:C537147] (18) |
|
|
|
|
|
|
|
|
Magnesium Deficiency [MESH:D008275] (44) |
|
|
|
|
|
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant [MESH:C567296] (31) |
|
|
Hyperhomocysteinemia [MESH:D020138] (1716) |
|
|
|
|
|
|
|
|
|
|
|
Vitamin D Hydroxylation-Deficient Rickets, Type 1A [MESH:C562688] (58) |
|
|
Hypophosphatemic Rickets, Autosomal Recessive, 2 [MESH:C567647] (48) |
|
|
Ataxia with vitamin E deficiency [MESH:C535393] (271) |
|
|
|
|
|
Prader-Willi Syndrome [MESH:D011218] (46) |
|
 |
C19. Endocrine System Diseases |
 |
 |
|
C19. Endocrine System Diseases |
|
|
Not Fully Specified [NFS] (123) |
|
|
ACTH Deficiency, Isolated [MESH:C562707] (124) |
|
|
Endocrine-Cerebroosteodysplasia [MESH:C567210] (26) |
|
|
Bone Diseases, Endocrine [MESH:D001849] (173) |
|
|
|
|
|
|
|
|
|
|
|
Adrenocortical Carcinoma, Hereditary [MESH:C565972] (769) |
|
|
|
|
|
|
|
|
Adrenocortical Carcinoma, Hereditary [MESH:C565972] (769) |
|
|
Cushing Syndrome [MESH:D003480] (282) |
|
|
|
|
|
Bartter syndrome, antenatal , type 2 [MESH:C537651] (30) |
|
|
Diabetes Mellitus, Permanent Neonatal [MESH:C563425] (321) |
|
|
Diabetes Mellitus, Transient Neonatal, 2 [MESH:C563672] (42) |
|
|
Diabetes Mellitus, Transient Neonatal, 3 [MESH:C566432] (37) |
|
|
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) |
|
|
Maturity-Onset Diabetes of the Young, Type 4 [MESH:C563451] (44) |
|
|
Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction [MESH:C565225] (56) |
|
|
Parastremmatic dwarfism [MESH:C537172] (39) |
|
|
Metatropic dwarfism [MESH:C537356] (39) |
|
|
Isolated Growth Hormone Deficiency, Type IB [MESH:C567564] (140) |
|
|
Hypothyroidism, Congenital, Nongoitrous, 2 [MESH:C566852] (30) |
|
|
Testicular Neoplasms [MESH:D013736] (520) |
|
|
|
|
|
|
|
|
Adrenocortical Carcinoma, Hereditary [MESH:C565972] (769) |
|
|
Ovarian epithelial cancer [MESH:C538090] (57) |
|
|
Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143) |
|
|
Pancreatic cancer, adult [MESH:C535836] (572) |
|
|
Carcinoma, Pancreatic Ductal [MESH:D021441] (1056) |
|
|
ACTH-Secreting Pituitary Adenoma [MESH:D049913] (172) |
|
|
Growth Hormone-Secreting Pituitary Adenoma [MESH:D049912] (383) |
|
|
Prolactinoma [MESH:D015175] (312) |
|
|
Thyroid cancer, papillary [MESH:C536915] (111) |
|
|
Puberty, Delayed [MESH:D011628] (449) |
|
|
Puberty, Precocious [MESH:D011629] (1147) |
|
|
|
|
|
Aromatase deficiency [MESH:C537436] (277) |
|
|
Persistent Mullerian duct syndrome [MESH:C536665] (47) |
|
|
17-Hydroxysteroid Dehydrogenase Deficiency [MESH:C537805] (52) |
|
|
Denys-Drash Syndrome [MESH:D030321] (57) |
|
|
Frasier Syndrome [MESH:D052159] (57) |
|
|
Kallmann Syndrome [MESH:D017436] (147) |
|
|
WAGR Syndrome [MESH:D017624] (270) |
|
|
Meacham Winn Culler syndrome [MESH:C538162] (57) |
|
|
Sexual Infantilism [MESH:D050035] (277) |
|
|
Meacham Winn Culler syndrome [MESH:C538162] (57) |
|
|
Kallmann Syndrome [MESH:D017436] (147) |
|
|
Sexual Infantilism [MESH:D050035] (277) |
|
|
|
|
|
Polycystic Ovary Syndrome [MESH:D011085] (2186) |
|
|
Ovarian epithelial cancer [MESH:C538090] (57) |
|
|
Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143) |
|
|
Cryptorchidism [MESH:D003456] (215) |
|
|
Testicular Neoplasms [MESH:D013736] (520) |
|
|
|
|
|
Hyperparathyroidism, Secondary [MESH:D006962] (1138) |
|
|
Hypoparathyroidism familial isolated [MESH:C537156] (108) |
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Isolated Growth Hormone Deficiency, Type IB [MESH:C567564] (140) |
|
|
Hypopituitarism [MESH:D007018] (732) |
|
|
Pituitary Apoplexy [MESH:D010899] (125) |
|
|
Acromegaly [MESH:D000172] (466) |
|
|
Hyperprolactinemia [MESH:D006966] (603) |
|
|
ACTH-Secreting Pituitary Adenoma [MESH:D049913] (172) |
|
|
Growth Hormone-Secreting Pituitary Adenoma [MESH:D049912] (383) |
|
|
Prolactinoma [MESH:D015175] (312) |
|
|
|
|
|
Graves Disease [MESH:D006111] (278) |
|
|
Graves Disease [MESH:D006111] (278) |
|
|
Hyperthyroxinemia, Familial Dysalbuminemic [MESH:D050010] (478) |
|
|
Bamforth syndrome [MESH:C537901] (186) |
|
|
Hypothyroidism, Congenital, Nongoitrous, 2 [MESH:C566852] (30) |
|
|
Hypothyroidism, Congenital, Nongoitrous, 2 [MESH:C566852] (30) |
|
|
Thyroid cancer, papillary [MESH:C536915] (111) |
|
|
|
|
|
Hashimoto Disease [MESH:D050031] (98) |
|
 |
C20. Immune System Diseases |
 |
 |
|
C20. Immune System Diseases |
|
|
Not Fully Specified [NFS] (350) |
|
|
Glomerulonephritis, Membranoproliferative [MESH:D015432] (770) |
|
|
Graft vs Host Disease [MESH:D006086] (674) |
|
|
Arthritis, Juvenile [MESH:D001171] (1060) |
|
|
Arthritis, Rheumatoid [MESH:D001172] (3601) |
|
|
Autoimmune Lymphoproliferative Syndrome [MESH:D056735] (704) |
|
|
Glomerulonephritis, IGA [MESH:D005922] (897) |
|
|
Glomerulonephritis, Membranous [MESH:D015433] (642) |
|
|
Graves Disease [MESH:D006111] (278) |
|
|
Hepatitis, Autoimmune [MESH:D019693] (1982) |
|
|
|
|
|
Multiple Sclerosis [MESH:D009103] (1716) |
|
|
Diabetes Mellitus, Insulin-Dependent, 12 [MESH:C563326] (23) |
|
|
Diabetes Mellitus, Insulin-Dependent, 10 [MESH:C566602] (88) |
|
|
Lupus Nephritis [MESH:D008181] (602) |
|
|
|
|
|
Kernicterus [MESH:D007647] (256) |
|
|
|
|
|
Asthma, Aspirin-Induced [MESH:D055963] (1055) |
|
|
Serum Sickness [MESH:D012713] (484) |
|
|
Stevens-Johnson Syndrome [MESH:D013262] (1163) |
|
|
Dermatitis, Allergic Contact [MESH:D017449] (3241) |
|
|
Anaphylaxis [MESH:D000707] (299) |
|
|
Asthma, Aspirin-Induced [MESH:D055963] (1055) |
|
|
Dermatitis, Atopic [MESH:D003876] (2052) |
|
|
Peanut Hypersensitivity [MESH:D021183] (572) |
|
|
Asthma [MESH:D001249] (3914) |
|
|
Rhinitis, Allergic, Perennial [MESH:D012221] (625) |
|
|
Angioedema [MESH:D000799] (837) |
|
|
Serum Sickness [MESH:D012713] (484) |
|
|
WHIM syndrome [MESH:C536697] (148) |
|
|
CD8 Deficiency, Familial [MESH:C563824] (41) |
|
|
Interleukin 2 Receptor, Alpha, Deficiency of [MESH:C565232] (88) |
|
|
Agammaglobulinemia [MESH:D000361] (156) |
|
|
Common Variable Immunodeficiency [MESH:D017074] (70) |
|
|
HIV Seropositivity [MESH:D006679] (480) |
|
|
AIDS-related Kaposi sarcoma [MESH:C554498] (914) |
|
|
|
|
|
Granulomatous Disease, Chronic, X-Linked [MESH:C564417] (111) |
|
|
Severe combined immunodeficiency with sensitivity to ionizing radiation [MESH:C537589] (23) |
|
|
Reticuloendotheliosis, familial, with eosinophilia [MESH:C538564] (44) |
|
|
Bare Lymphocyte Syndrome, Type I [MESH:C565759] (101) |
|
|
|
|
|
Mevalonate Kinase Deficiency [MESH:D054078] (38) |
|
|
Autoimmune Lymphoproliferative Syndrome [MESH:D056735] (704) |
|
|
Multiple Myeloma [MESH:D009101] (2767) |
|
|
Leukemia, T-Cell [MESH:D015458] (395) |
|
|
Leukemia, Lymphocytic, Chronic, B-Cell [MESH:D015451] (2562) |
|
|
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, AIDS-Related [MESH:D016483] (278) |
|
|
Lymphoma, Large B-Cell, Diffuse [MESH:D016403] (2012) |
|
|
Lymphoma, T-Cell, Cutaneous [MESH:D016410] (912) |
|
|
Multiple Myeloma [MESH:D009101] (2765) |
|
 |
C22. Animal Diseases |
 |
 |
|
C22. Animal Diseases |
|
|
Disease Models, Animal [MESH:D004195] (2058) |
|
|
Dog Diseases [MESH:D004283] (59) |
|
|
Mammary Neoplasms, Animal [MESH:D015674] (2735) |
|
|
Tuberculosis, Bovine [MESH:D014380] (380) |
|
 |
C23. Pathological Conditions, Signs and Symptoms |
 |
 |
|
C23. Pathological Conditions, Signs and Symptoms |
|
|
Cysts [MESH:D003560] (133) |
|
|
Plaque, Atherosclerotic [MESH:D058226] (696) |
|
|
Ventricular Remodeling [MESH:D020257] (686) |
|
|
Alopecia universalis [MESH:C537055] (23) |
|
|
Atrichia with Papular Lesions [MESH:C565924] (23) |
|
|
Muscular Atrophy [MESH:D009133] (1234) |
|
|
Gallstones [MESH:D042882] (350) |
|
|
|
|
|
|
|
|
Tracheoesophageal Fistula [MESH:D014138] (88) |
|
|
|
|
|
Knobloch syndrome [MESH:C537209] (70) |
|
|
|
|
|
Hernia, Umbilical [MESH:D006554] (115) |
|
|
Congenital diaphragmatic hernia [MESH:C538080] (381) |
|
|
Intervertebral disc disease [MESH:C535531] (514) |
|
|
Splenomegaly [MESH:D013163] (1258) |
|
|
Hypertrophy, Left Ventricular [MESH:D017379] (1430) |
|
|
Witkop syndrome [MESH:C536736] (38) |
|
|
|
|
|
Colonic Polyps [MESH:D003111] (210) |
|
|
Emphysema [MESH:D004646] (1096) |
|
|
Gliosis [MESH:D005911] (1419) |
|
|
Hyperplasia [MESH:D006965] (2463) |
|
|
Ischemia [MESH:D007511] (3049) |
|
|
Muscle Weakness [MESH:D018908] (478) |
|
|
Necrosis [MESH:D009336] (4019) |
|
|
Neointima [MESH:D058426] (814) |
|
|
Nerve Degeneration [MESH:D009410] (4061) |
|
|
Ulcer [MESH:D014456] (392) |
|
|
Short QT Syndrome 1 [MESH:C566506] (189) |
|
|
Bradycardia [MESH:D001919] (1899) |
|
|
Sick Sinus Syndrome [MESH:D012804] (293) |
|
|
Atrial Fibrillation, Familial, 7 [MESH:C567389] (39) |
|
|
Atrioventricular Block [MESH:D054537] (188) |
|
|
Sick Sinus Syndrome [MESH:D012804] (293) |
|
|
Long Qt Syndrome 2 [MESH:C563614] (189) |
|
|
|
|
|
Polymorphic catecholergic ventricular tachycardia [MESH:C536334] (64) |
|
|
Torsades de Pointes [MESH:D016171] (880) |
|
|
Chromosome Breakage [MESH:D019457] (139) |
|
|
Micronuclei, Chromosome-Defective [MESH:D048629] (1013) |
|
|
|
|
|
|
|
|
Chromosome 3, monosomy 3p25 [MESH:C536807] (76) |
|
|
Chromosome 17 deletion [MESH:C538045] (769) |
|
|
Hypotonia-Cystinuria Syndrome [MESH:C564710] (52) |
|
|
Death, Sudden [MESH:D003645] (725) |
|
|
Fetal Death [MESH:D005313] (464) |
|
|
Critical Illness [MESH:D016638] (296) |
|
|
Disease Progression [MESH:D018450] (2868) |
|
|
Recurrence [MESH:D012008] (830) |
|
|
Genetic Predisposition to Disease [MESH:D020022] (966) |
|
|
Cardiofaciocutaneous syndrome [MESH:C535579] (407) |
|
|
Pitt-Hopkins syndrome [MESH:C537403] (113) |
|
|
Fibrosis Of Extraocular Muscles, Congenital, 2 [MESH:C566587] (18) |
|
|
Peritoneal Fibrosis [MESH:D056627] (488) |
|
|
Keloid [MESH:D007627] (1110) |
|
|
Insulin-Like Growth Factor I Deficiency [MESH:C563867] (346) |
|
|
Gastrointestinal Hemorrhage [MESH:D006471] (815) |
|
|
Shock, Hemorrhagic [MESH:D012771] (2042) |
|
|
Cerebral Hemorrhage [MESH:D002543] (2872) |
|
|
Subarachnoid Hemorrhage [MESH:D013345] (1081) |
|
|
Systemic carnitine deficiency [MESH:C536778] (92) |
|
|
Kernicterus [MESH:D007647] (256) |
|
|
Hyperbilirubinemia, Transient Familial Neonatal [MESH:C562692] (254) |
|
|
Neurogenic Inflammation [MESH:D020078] (2246) |
|
|
|
|
|
Shock, Septic [MESH:D012772] (1830) |
|
|
Endotoxemia [MESH:D019446] (1289) |
|
|
|
|
|
Multiple pterygium syndrome [MESH:C537377] (23) |
|
|
Amenorrhea [MESH:D000568] (817) |
|
|
Dysmenorrhea [MESH:D004412] (189) |
|
|
Neovascularization, Pathologic [MESH:D009389] (829) |
|
|
Neoplasm Invasiveness [MESH:D009361] (3388) |
|
|
Neoplasm Metastasis [MESH:D009362] (4441) |
|
|
Neoplasm Recurrence, Local [MESH:D009364] (1949) |
|
|
Neoplasm, Residual [MESH:D018365] (478) |
|
|
Cell Transformation, Neoplastic [MESH:D002471] (3389) |
|
|
Osseous Heteroplasia, Progressive [MESH:C562735] (82) |
|
|
Ossification of the posterior longitudinal ligament of the spine [MESH:C537143] (98) |
|
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|
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Multiple pterygium syndrome [MESH:C537377] (23) |
|
|
Myocardial Reperfusion Injury [MESH:D015428] (3500) |
|
|
Multiple Organ Failure [MESH:D009102] (1836) |
|
|
Shock, Hemorrhagic [MESH:D012771] (2042) |
|
|
Shock, Septic [MESH:D012772] (1830) |
|
|
Cyanosis [MESH:D003490] (288) |
|
|
Edema [MESH:D004487] (3726) |
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|
Feminization [MESH:D005262] (655) |
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Fetal Distress [MESH:D005316] (99) |
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Flushing [MESH:D005483] (506) |
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Reticulocytosis [MESH:D045262] (514) |
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|
Fever [MESH:D005334] (2856) |
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Hypothermia [MESH:D007035] (2075) |
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Weight Gain [MESH:D015430] (2595) |
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Cachexia [MESH:D002100] (2283) |
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Obesity [MESH:D009765] (4454) |
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|
Cardiofaciocutaneous syndrome [MESH:C535579] (407) |
|
|
Orthostatic Intolerance [MESH:D054971] (64) |
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|
Paresis [MESH:D010291] (419) |
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|
Seizures [MESH:D012640] (4502) |
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|
Catalepsy [MESH:D002375] (1429) |
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Hyperkinesis [MESH:D006948] (1799) |
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Hypokinesia [MESH:D018476] (279) |
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Myoclonus [MESH:D009207] (263) |
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Tics [MESH:D020323] (62) |
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Tremor [MESH:D014202] (840) |
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Ataxia with vitamin E deficiency [MESH:C535393] (271) |
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|
Torticollis [MESH:D014103] (80) |
|
|
Psychomotor Disorders [MESH:D011596] (576) |
|
|
Learning Disorders [MESH:D007859] (2727) |
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|
Coma [MESH:D003128] (492) |
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|
Amnesia, Retrograde [MESH:D000648] (53) |
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|
Epileptic encephalopathy, Lennox-Gastaut type [MESH:C535500] (70) |
|
|
Zlotogora-Ogur syndrome [MESH:C536726] (25) |
|
|
Parastremmatic dwarfism [MESH:C537172] (39) |
|
|
Pitt-Hopkins syndrome [MESH:C537403] (113) |
|
|
Hypotonia-Cystinuria Syndrome [MESH:C564710] (52) |
|
|
Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (85) |
|
|
Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65) |
|
|
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation [MESH:C567038] (48) |
|
|
Fasciculation [MESH:D005207] (204) |
|
|
Muscle Weakness [MESH:D018908] (478) |
|
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Muscular Atrophy [MESH:D009133] (1234) |
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Muscle Rigidity [MESH:D009127] (617) |
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Hypotonia-Cystinuria Syndrome [MESH:C564710] (52) |
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Hecht syndrome [MESH:C535857] (10) |
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Headache [MESH:D006261] (1417) |
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Neuralgia [MESH:D009437] (2074) |
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Alternating hemiplegia of childhood [MESH:C536589] (70) |
|
|
Fibrosis Of Extraocular Muscles, Congenital, 2 [MESH:C566587] (18) |
|
|
Supranuclear Palsy, Progressive [MESH:D013494] (235) |
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|
Reflex, Babinski [MESH:D001405] (97) |
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Olfaction Disorders [MESH:D000857] (105) |
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Taste Disorders [MESH:D013651] (461) |
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Lacrimoauriculodentodigital syndrome [MESH:C538132] (149) |
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|
Microtia, Hearing Impairment, And Cleft Palate [MESH:C567359] (30) |
|
|
Deafness [MESH:D003638] (593) |
|
|
Optic atrophy 1 and deafness [MESH:C537124] (30) |
|
|
Griscelli syndrome type 1 [MESH:C537301] (42) |
|
|
Deafness, Autosomal Recessive 12 [MESH:C563327] (46) |
|
|
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness [MESH:C563798] (43) |
|
|
Insulin-Like Growth Factor I Deficiency [MESH:C563867] (346) |
|
|
Deafness, Autosomal Dominant 44 [MESH:C564399] (18) |
|
|
Usher syndrome, type 1D [MESH:C536487] (23) |
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Hyperalgesia [MESH:D006930] (3929) |
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Sleep Deprivation [MESH:D012892] (233) |
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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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Dysmenorrhea [MESH:D004412] (189) |
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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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Vomiting [MESH:D014839] (1354) |
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Anoxia [MESH:D000860] (1698) |
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Apnea [MESH:D001049] (415) |
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Cough [MESH:D003371] (179) |
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Hyperoxia [MESH:D018496] (694) |
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Respiratory Sounds [MESH:D012135] (713) |
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Pitt-Hopkins syndrome [MESH:C537403] (113) |
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Perry Syndrome [MESH:C566822] (21) |
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Cafe-au-Lait Spots [MESH:D019080] (186) |
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Pruritus [MESH:D011537] (648) |
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Polyuria [MESH:D011141] (279) |
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Hypomagnesemia primary [MESH:C537153] (35) |
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|
Hypercalciuria, Absorptive, 2 [MESH:C562790] (15) |
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CD59 Deficiency [MESH:C567355] (57) |
|
 |
C24. Occupational Diseases |
 |
 |
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C24. Occupational Diseases |
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|
Not Fully Specified [NFS] (1530) |
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Dermatitis, Occupational [MESH:D009783] (311) |
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Asbestosis [MESH:D001195] (935) |
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Berylliosis [MESH:D001607] (2005) |
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Silicosis [MESH:D012829] (1273) |
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Advanced Sleep-Phase Syndrome, Familial [MESH:C565789] (82) |
|
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C25. Chemically-Induced Disorders |
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 |
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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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Asthma, Aspirin-Induced [MESH:D055963] (1055) |
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Serum Sickness [MESH:D012713] (484) |
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Stevens-Johnson Syndrome [MESH:D013262] (1163) |
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Arsenic Poisoning [MESH:D020261] (2540) |
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Drug-Induced Liver Injury [MESH:D056486] (4936) |
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Lead Poisoning [MESH:D007855] (515) |
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Manganese Poisoning [MESH:D020149] (2214) |
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Psychoses, Substance-Induced [MESH:D011605] (2053) |
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Water Intoxication [MESH:D014869] (106) |
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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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|
Alcoholic Intoxication [MESH:D000435] (87) |
|
|
Alcoholism [MESH:D000437] (1519) |
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|
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Hepatitis, Alcoholic [MESH:D006519] (1613) |
|
|
Liver Cirrhosis, Alcoholic [MESH:D008104] (3066) |
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|
Heroin Dependence [MESH:D006556] (950) |
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|
Morphine Dependence [MESH:D009021] (855) |
|
 |
C26. Wounds and Injuries |
 |
 |
|
C26. Wounds and Injuries |
|
|
Not Fully Specified [NFS] (2454) |
|
|
Burns [MESH:D002056] (2565) |
|
|
Vascular System Injuries [MESH:D057772] (2086) |
|
|
Brain Injuries [MESH:D001930] (3431) |
|
|
Fractures, Closed [MESH:D005596] (194) |
|
|
Radiation Injuries, Experimental [MESH:D011833] (2662) |
|
|
Aortic Rupture [MESH:D001019] (637) |
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Spinal Cord Compression [MESH:D013117] (1800) |
|
|
Lung Injury [MESH:D055370] (1814) |
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|
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|
|
Brain Injuries [MESH:D001930] (3431) |
|
 |
D03. Heterocyclic Compounds |
 |
 |
|
D03. Heterocyclic Compounds |
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Flavonoids [MESH:D005419] (3001) |
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Flavonoids [MESH:D005419] (2989) |
|
 |
E. Analytical, Diagnostic and Therapeutic Techniques and Equipment |
 |
 |
|
E. Analytical, Diagnostic and Therapeutic Techniques and Equipment |
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|
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|
|
Cardiofaciocutaneous syndrome [MESH:C535579] (407) |
|
|
Pitt-Hopkins syndrome [MESH:C537403] (113) |
|
 |
F. Psychiatry and Psychology |
 |
 |
|
F. Psychiatry and Psychology |
|
|
|
|
|
|
|
|
|
|
|
Perry Syndrome [MESH:C566822] (21) |
|
|
|
|
|
Epileptic encephalopathy, Lennox-Gastaut type [MESH:C535500] (70) |
|
|
Zlotogora-Ogur syndrome [MESH:C536726] (25) |
|
|
Parastremmatic dwarfism [MESH:C537172] (39) |
|
|
Pitt-Hopkins syndrome [MESH:C537403] (113) |
|
|
Hypotonia-Cystinuria Syndrome [MESH:C564710] (52) |
|
|
Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (85) |
|
|
Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65) |
|
|
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation [MESH:C567038] (48) |
|
|
|
|
|
|
|
|
|
|
|
Parkinson Disease 4, Autosomal Dominant Lewy Body [MESH:C565324] (136) |
|
|
|
|
|
Epileptic encephalopathy, Lennox-Gastaut type [MESH:C535500] (70) |
|
|
Zlotogora-Ogur syndrome [MESH:C536726] (25) |
|
|
Parastremmatic dwarfism [MESH:C537172] (39) |
|
|
Pitt-Hopkins syndrome [MESH:C537403] (113) |
|
|
Hypotonia-Cystinuria Syndrome [MESH:C564710] (52) |
|
|
Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (85) |
|
|
Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65) |
|
|
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation [MESH:C567038] (48) |
|
|
|
|
|
|
|
|
Aromatase deficiency [MESH:C537436] (277) |
|
|
Persistent Mullerian duct syndrome [MESH:C536665] (47) |
|
|
17-Hydroxysteroid Dehydrogenase Deficiency [MESH:C537805] (52) |
|
|
|
|
|
|
|
|
Advanced Sleep-Phase Syndrome, Familial [MESH:C565789] (82) |
|
|
|
|
|
|
|
|
Epilepsy, Nocturnal Frontal Lobe, Type 4 [MESH:C563679] (43) |
|
 |
G. Phenomena and Processes |
 |
 |
|
G. Phenomena and Processes |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Chromosome 3, monosomy 3p25 [MESH:C536807] (76) |
|
|
Chromosome 17 deletion [MESH:C538045] (769) |
|
|
Hypotonia-Cystinuria Syndrome [MESH:C564710] (52) |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Chromosome 3, monosomy 3p25 [MESH:C536807] (76) |
|
|
|
|
|
Chromosome 17 deletion [MESH:C538045] (769) |
|
|
|
|
|
Hypotonia-Cystinuria Syndrome [MESH:C564710] (52) |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Chromosome 3, monosomy 3p25 [MESH:C536807] (76) |
|
|
Chromosome 17 deletion [MESH:C538045] (769) |
|
|
Hypotonia-Cystinuria Syndrome [MESH:C564710] (52) |
|
|
|
|
|
|
|
|
|
|
|
Chromosome 3, monosomy 3p25 [MESH:C536807] (76) |
|
|
Chromosome 17 deletion [MESH:C538045] (769) |
|
|
Hypotonia-Cystinuria Syndrome [MESH:C564710] (52) |
|
|
|
|
|
Chromosome 3, monosomy 3p25 [MESH:C536807] (76) |
|
|
Chromosome 17 deletion [MESH:C538045] (769) |
|
|
Hypotonia-Cystinuria Syndrome [MESH:C564710] (52) |
|
|
|
|
|
|
|
|
|
|
|
Chromosome 3, monosomy 3p25 [MESH:C536807] (76) |
|
|
Chromosome 17 deletion [MESH:C538045] (769) |
|
|
Hypotonia-Cystinuria Syndrome [MESH:C564710] (52) |
|
 |