more general categories
information about this item
1. Human Genes
1. Human Genes
tyrosyl-tRNA synthetase [HGNC:YARS] (16)
glycyl-tRNA synthetase [HGNC:GARS] (27)
glycophorin A (MNS blood group) [HGNC:GYPA] (15)
CD083 molecule [HGNC:CD83] (48)
glycophorin A (MNS blood group) [HGNC:GYPA] (15)
collagen, type III, alpha 1 [HGNC:COL3A1] (33)
cyclin-dependent kinase 07 [HGNC:CDK7] (22)
cyclin-dependent kinase 07 [HGNC:CDK7] (22)
CD083 molecule [HGNC:CD83] (48)
interferon, alpha 2 [HGNC:IFNA2] (25)
interferon, gamma [HGNC:IFNG] (274)
keratin 07 [HGNC:KRT7] (30)
keratin 07 [HGNC:KRT7] (30)
Kruppel-like factor 04 (gut) [HGNC:KLF4] (49)
laminin, beta 3 [HGNC:LAMB3] (30)
solute carrier family 06 (neurotransmitter transporter), member 04 [HGNC:SLC6A4] (41)
solute carrier family 22 (organic cation transporter), member 01 [HGNC:SLC22A1] (52)
solute carrier family 22 (organic cation transporter), member 02 [HGNC:SLC22A2] (31)
solute carrier family 22 (organic cation transporter), member 03 [HGNC:SLC22A3] (71)
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 [HGNC:SLC25A19] (15)
solute carrier family 28 (concentrative nucleoside transporter), member 1 [HGNC:SLC28A1] (16)
solute carrier family 31 (copper transporter), member 1 [HGNC:SLC31A1] (35)
Kruppel-like factor 04 (gut) [HGNC:KLF4] (49)
2. Interaction: Human Genes and Chemicals
2. Interaction: Human Genes and Chemicals
binding (2423)
cotreatment (1499)
response to substance (623)
expression (2187)
reaction (3393)
activity (2865)
expression (3238)
mutagenesis (85)
phosphorylation (1060)
reaction (1574)
transport (399)
uptake (378)
A. Anatomy
A. Anatomy
Borjeson-Forssman-Lehmann syndrome [MESH:C536575] (17)
Borjeson-Forssman-Lehmann syndrome [MESH:C536575] (17)
Aortic Aneurysm, Familial Thoracic 6 [MESH:C567085] (221)
Joubert syndrome 1 [MESH:C536293] (20)
Aortic Aneurysm, Familial Thoracic 6 [MESH:C567085] (221)
Schopf-Schulz-Passarge Syndrome [MESH:C565607] (21)
Schopf-Schulz-Passarge Syndrome [MESH:C565607] (21)
C01. Bacterial Infections and Mycoses
C01. Bacterial Infections and Mycoses
Helicobacter Infections [MESH:D016481] (579)
Chlamydia Infections [MESH:D002690] (1696)
Salmonella Infections, Animal [MESH:D012481] (604)
Legionnaires' Disease [MESH:D007877] (611)
Meningococcal Infections [MESH:D008589] (242)
Staphylococcal Infections [MESH:D013203] (264)
Paratuberculosis [MESH:D010283] (427)
Chlamydia Infections [MESH:D002690] (1693)
Arthritis, Infectious [MESH:D001170] (1702)
Pregnancy Complications, Infectious [MESH:D011251] (17)
Sepsis [MESH:D018805] (3556)
Appendicitis [MESH:D001064] (774)
Peritonitis [MESH:D010538] (800)
AIDS-related Kaposi sarcoma [MESH:C554498] (914)
Chlamydia Infections [MESH:D002690] (1693)
C02. Virus Diseases
C02. Virus Diseases
Viremia [MESH:D014766] (41)
Meningitis, Aseptic [MESH:D008582] (1305)
Hepatitis B, Chronic [MESH:D019694] (277)
AIDS-related Kaposi sarcoma [MESH:C554498] (914)
Hepatitis B, Chronic [MESH:D019694] (277)
Hepatitis C, Chronic [MESH:D019698] (142)
Meningitis, Aseptic [MESH:D008582] (1305)
AIDS-related Kaposi sarcoma [MESH:C554498] (914)
Flavivirus Infections [MESH:D018177] (159)
Hepatitis C, Chronic [MESH:D019698] (142)
Respiratory Syncytial Virus Infections [MESH:D018357] (852)
Influenza, Human [MESH:D007251] (1075)
Coxsackievirus Infections [MESH:D003384] (194)
Acquired Immunodeficiency Syndrome [MESH:D000163] (743)
HIV-Associated Lipodystrophy Syndrome [MESH:D039682] (91)
HIV Seropositivity [MESH:D006679] (480)
AIDS-related Kaposi sarcoma [MESH:C554498] (914)
Acquired Immunodeficiency Syndrome [MESH:D000163] (743)
HIV-Associated Lipodystrophy Syndrome [MESH:D039682] (91)
HIV Seropositivity [MESH:D006679] (480)
Acquired Immunodeficiency Syndrome [MESH:D000163] (743)
C03. Parasitic Diseases
C03. Parasitic Diseases
Trichuriasis [MESH:D014257] (805)
AIDS-related Kaposi sarcoma [MESH:C554498] (914)
Malaria [MESH:D008288] (2175)
Entamoebiasis [MESH:D004749] (1689)
Leishmaniasis, Visceral [MESH:D007898] (2149)
Leishmaniasis, Mucocutaneous [MESH:D007897] (606)
Leishmaniasis, Mucocutaneous [MESH:D007897] (606)
C04. Neoplasms
C04. Neoplasms
Precancerous Conditions [MESH:D011230] (2858)
Polycystic Ovary Syndrome [MESH:D011085] (2186)
Tuberous Sclerosis [MESH:D014402] (635)
Cowden-Like Syndrome [MESH:C567337] (52)
Leukemia, Lymphocytic, Chronic, B-Cell [MESH:D015451] (2562)
Leukemia-Lymphoma, Adult T-Cell [MESH:D015459] (138)
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D015452] (354)
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054218] (510)
Leukemia, Myelogenous, Chronic, BCR-ABL Positive [MESH:D015464] (1032)
Leukemia, Promyelocytic, Acute [MESH:D015473] (1367)
Hodgkin Disease [MESH:D006689] (1082)
Lymphoma, Follicular [MESH:D008224] (1025)
Lymphoma, Mantle-Cell [MESH:D020522] (561)
Lymphoma, Large B-Cell, Diffuse [MESH:D016403] (2012)
Carcinosarcoma [MESH:D002296] (581)
Liposarcoma, Myxoid [MESH:D018208] (358)
Chondroma [MESH:D002812] (155)
Sarcoma, Synovial [MESH:D013584] (993)
Chondrosarcoma, Mesenchymal [MESH:D018211] (1161)
Carney-Stratakis Syndrome [MESH:C564650] (65)
Osteosarcoma [MESH:D012516] (2175)
Carcinosarcoma [MESH:D002296] (581)
Hemangiosarcoma [MESH:D006394] (1836)
Osteosarcoma [MESH:D012516] (2175)
Sarcoma, Synovial [MESH:D013584] (993)
Chondrosarcoma, Mesenchymal [MESH:D018211] (1161)
Liposarcoma, Myxoid [MESH:D018208] (358)
AIDS-related Kaposi sarcoma [MESH:C554498] (914)
Medulloblastoma [MESH:D008527] (1282)
Oligodendroglioma [MESH:D009837] (241)
Glioblastoma [MESH:D005909] (2554)
Medulloblastoma [MESH:D008527] (1282)
Neuroblastoma [MESH:D009447] (1420)
Melanoma [MESH:D008545] (3508)
Carney-Stratakis Syndrome [MESH:C564650] (65)
Pheochromocytoma [MESH:D010673] (275)
Gestational Trophoblastic Disease [MESH:D031901] (65)
Adenoma, Liver Cell [MESH:D018248] (685)
Adenoma, Oxyphilic [MESH:D018249] (115)
Mesothelioma [MESH:D008654] (2567)
Carcinoma, Small Cell [MESH:D018288] (1317)
Carcinoma, Transitional Cell [MESH:D002295] (2662)
Adenocarcinoma of lung [MESH:C538231] (1487)
Adenocarcinoma, Clear Cell [MESH:D018262] (1291)
Carcinoma, Adenoid Cystic [MESH:D003528] (1561)
Carcinoma, Hepatocellular [MESH:D006528] (5375)
Carcinoma, Renal Cell [MESH:D002292] (2975)
Prostatic Intraepithelial Neoplasia [MESH:D019048] (1565)
Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)
Mesothelioma [MESH:D008654] (2567)
Medulloblastoma [MESH:D008527] (1282)
Oligodendroglioma [MESH:D009837] (241)
Glioblastoma [MESH:D005909] (2554)
Medulloblastoma [MESH:D008527] (1282)
Neuroblastoma [MESH:D009447] (1420)
Papilloma [MESH:D010212] (2243)
Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)
Medulloblastoma [MESH:D008527] (1282)
Oligodendroglioma [MESH:D009837] (241)
Glioblastoma [MESH:D005909] (2554)
Medulloblastoma [MESH:D008527] (1282)
Neuroblastoma [MESH:D009447] (1420)
Melanoma [MESH:D008545] (3508)
Carney-Stratakis Syndrome [MESH:C564650] (65)
Pheochromocytoma [MESH:D010673] (275)
Multiple Myeloma [MESH:D009101] (2767)
Hemangiosarcoma [MESH:D006394] (1836)
Hemangioendothelioma, Epithelioid [MESH:D018323] (34)
AIDS-related Kaposi sarcoma [MESH:C554498] (914)
Melanoma [MESH:D008545] (3508)
Breast Neoplasms [MESH:D001943] (6077)
Soft Tissue Neoplasms [MESH:D012983] (2003)
Pancreatic Neoplasms [MESH:D010190] (3820)
Gallbladder Neoplasms [MESH:D005706] (993)
Stomach Neoplasms [MESH:D013274] (4942)
Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)
Cecal Neoplasms [MESH:D002430] (822)
Colonic Neoplasms [MESH:D003110] (4405)
Rectal Neoplasms [MESH:D012004] (717)
Adenoma, Liver Cell [MESH:D018248] (685)
Carcinoma, Hepatocellular [MESH:D006528] (5375)
Liver Neoplasms, Experimental [MESH:D008114] (2837)
Adrenal Gland Neoplasms [MESH:D000310] (917)
Ovarian Neoplasms [MESH:D010051] (3275)
Pancreatic Neoplasms [MESH:D010190] (3820)
Pituitary Neoplasms [MESH:D010911] (981)
Thyroid Neoplasms [MESH:D013964] (2040)
Multiple Endocrine Neoplasia, Type IV [MESH:C567059] (297)
Thyroid Neoplasms [MESH:D013964] (2040)
Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)
Schopf-Schulz-Passarge Syndrome [MESH:C565607] (21)
Salivary Gland Neoplasms [MESH:D012468] (968)
Tongue Neoplasms [MESH:D014062] (1518)
Mammary Neoplasms, Experimental [MESH:D008325] (3268)
Pituitary Neoplasms [MESH:D010911] (914)
Sebaceous Gland Neoplasms [MESH:D012626] (154)
Adenocarcinoma of lung [MESH:C538231] (1487)
Carcinoma, Non-Small-Cell Lung [MESH:D002289] (3540)
Endometrial Neoplasms [MESH:D016889] (1987)
Prostatic Neoplasms [MESH:D011471] (6135)
Urinary Bladder Neoplasms [MESH:D001749] (4079)
Carcinoma, Renal Cell [MESH:D002292] (2975)
Liver Neoplasms, Experimental [MESH:D008114] (2837)
Mammary Neoplasms, Experimental [MESH:D008325] (3268)
Tuberous Sclerosis [MESH:D014402] (635)
Cowden-Like Syndrome [MESH:C567337] (52)
Multiple Endocrine Neoplasia, Type IV [MESH:C567059] (297)
Neoplasm Invasiveness [MESH:D009361] (3388)
Neoplasm Metastasis [MESH:D009362] (4441)
Neoplasm Recurrence, Local [MESH:D009364] (1949)
Cell Transformation, Neoplastic [MESH:D002471] (3389)
Tuberous Sclerosis [MESH:D014402] (635)
Cowden-Like Syndrome [MESH:C567337] (52)
Multiple Endocrine Neoplasia, Type IV [MESH:C567059] (297)
Gestational Trophoblastic Disease [MESH:D031901] (65)
C05. Musculoskeletal Diseases
C05. Musculoskeletal Diseases
Acromicric dysplasia [MESH:C535662] (520)
Camurati-Engelmann Syndrome [MESH:D003966] (492)
Enchondromatosis [MESH:D004687] (170)
Osteoporosis, Postmenopausal [MESH:D015663] (2351)
Vitamin D-Dependent Rickets, Type 2A [MESH:C562794] (137)
Intervertebral Disc Degeneration [MESH:D055959] (827)
Cleft Palate [MESH:D002972] (1330)
Arthritis, Experimental [MESH:D001169] (3142)
Arthritis, Infectious [MESH:D001170] (1702)
Arthritis, Rheumatoid [MESH:D001172] (3603)
Osteoarthritis [MESH:D010003] (1743)
Rhabdomyolysis [MESH:D012206] (465)
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 [MESH:C563750] (56)
Muscular Dystrophy, Duchenne [MESH:D020388] (942)
Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854)
Holoprosencephaly [MESH:D016142] (218)
DiGeorge Syndrome [MESH:D004062] (236)
Cleft Palate [MESH:D002972] (1330)
Amish lethal microcephaly [MESH:C538247] (29)
Phosphoserine Aminotransferase Deficiency [MESH:C567032] (85)
Acromicric dysplasia [MESH:C535662] (520)
Arthritis, Rheumatoid [MESH:D001172] (3603)
Osteoarthritis [MESH:D010003] (1743)
C06. Digestive System Diseases
C06. Digestive System Diseases
Liver Cirrhosis, Biliary [MESH:D008105] (1274)
Gallbladder Neoplasms [MESH:D005706] (993)
Gallbladder Neoplasms [MESH:D005706] (993)
Pancreatic Neoplasms [MESH:D010190] (3820)
Gallbladder Neoplasms [MESH:D005706] (993)
Stomach Neoplasms [MESH:D013274] (4942)
Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)
Carney-Stratakis Syndrome [MESH:C564650] (65)
Cecal Neoplasms [MESH:D002430] (822)
Colonic Neoplasms [MESH:D003110] (4405)
Rectal Neoplasms [MESH:D012004] (717)
Adenoma, Liver Cell [MESH:D018248] (685)
Carcinoma, Hepatocellular [MESH:D006528] (5375)
Liver Neoplasms, Experimental [MESH:D008114] (2837)
Esophageal and Gastric Varices [MESH:D004932] (83)
Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)
Appendicitis [MESH:D001064] (774)
Colitis, Ulcerative [MESH:D003093] (2601)
Colitis, Ulcerative [MESH:D003093] (2601)
Crohn Disease [MESH:D003424] (2585)
Stomach Neoplasms [MESH:D013274] (4942)
Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)
Carney-Stratakis Syndrome [MESH:C564650] (65)
Cecal Neoplasms [MESH:D002430] (822)
Colonic Neoplasms [MESH:D003110] (4405)
Rectal Neoplasms [MESH:D012004] (717)
Intestinal Perforation [MESH:D007416] (471)
Appendicitis [MESH:D001064] (774)
Cecal Neoplasms [MESH:D002430] (822)
Colitis, Ulcerative [MESH:D003093] (2601)
Colonic Neoplasms [MESH:D003110] (4405)
Duodenal Ulcer [MESH:D004381] (1549)
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)
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 Cirrhosis, Biliary [MESH:D008105] (1274)
Non-alcoholic Fatty Liver Disease [MESH:C541083] (1567)
End Stage Liver Disease [MESH:D058625] (108)
Hepatic Encephalopathy [MESH:D006501] (1795)
Liver Failure, Acute [MESH:D017114] (2404)
Hepatitis, Autoimmune [MESH:D019693] (1982)
Hepatitis B, Chronic [MESH:D019694] (277)
Hepatitis C, Chronic [MESH:D019698] (142)
Hepatitis B, Chronic [MESH:D019694] (277)
Hepatitis C, Chronic [MESH:D019698] (142)
Esophageal and Gastric Varices [MESH:D004932] (83)
Liver Cirrhosis, Alcoholic [MESH:D008104] (3066)
Liver Cirrhosis, Biliary [MESH:D008105] (1274)
Liver Cirrhosis, Experimental [MESH:D008106] (4589)
Liver Cirrhosis, Alcoholic [MESH:D008104] (3066)
Adenoma, Liver Cell [MESH:D018248] (685)
Carcinoma, Hepatocellular [MESH:D006528] (5375)
Liver Neoplasms, Experimental [MESH:D008114] (2837)
Cystic Fibrosis [MESH:D003550] (760)
Pancreatic Neoplasms [MESH:D010190] (3820)
Pancreatitis [MESH:D010195] (1924)
Peritoneal Fibrosis [MESH:D056627] (488)
Peritonitis [MESH:D010538] (800)
C07. Stomatognathic Diseases
C07. Stomatognathic Diseases
PCI 5002 [MESH:C568608] (527)
Oral Submucous Fibrosis [MESH:D009914] (2432)
Oral Ulcer [MESH:D019226] (488)
Burning mouth syndrome- Type 3 [MESH:C537413] (5)
PCI 5002 [MESH:C568608] (433)
PCI 5002 [MESH:C568608] (433)
Opitz GBBB Syndrome, X-Linked [MESH:C567932] (535)
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia [MESH:C566352] (437)
Orstavik Lindemann Solberg syndrome [MESH:C537137] (668)
Xerostomia [MESH:D014987] (98)
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia [MESH:C566352] (437)
Stevens-Johnson Syndrome [MESH:D013262] (1163)
Orstavik Lindemann Solberg syndrome [MESH:C537137] (668)
Opitz GBBB Syndrome, X-Linked [MESH:C567932] (535)
Orofacial Cleft 12 [MESH:C567548] (434)
Opitz GBBB Syndrome, X-Linked [MESH:C567932] (535)
Schopf-Schulz-Passarge Syndrome [MESH:C565607] (21)
Odontoonychodermal dysplasia [MESH:C537742] (21)
Schopf-Schulz-Passarge Syndrome [MESH:C565607] (21)
Odontoonychodermal dysplasia [MESH:C537742] (21)
C08. Respiratory Tract Diseases
C08. Respiratory Tract Diseases
Not Fully Specified [NFS] (1984)
Ciliary Motility Disorders [MESH:D002925] (104)
Asthma [MESH:D001249] (4098)
Bronchiolitis Obliterans [MESH:D001989] (611)
Dysphonia [MESH:D055154] (23)
Cystic Fibrosis [MESH:D003550] (760)
Hypertension, Pulmonary [MESH:D006976] (2000)
Pneumonia [MESH:D011014] (3482)
Pulmonary Fibrosis [MESH:D011658] (3140)
Respiratory Distress Syndrome, Adult [MESH:D012128] (864)
Berylliosis [MESH:D001607] (2005)
Asthma [MESH:D001249] (3903)
Bronchiolitis Obliterans [MESH:D001989] (611)
Pulmonary Emphysema [MESH:D011656] (1259)
Acute Lung Injury [MESH:D055371] (1907)
Berylliosis [MESH:D001607] (2005)
Adenocarcinoma of lung [MESH:C538231] (1487)
Carcinoma, Non-Small-Cell Lung [MESH:D002289] (3540)
Rhinitis, Allergic, Perennial [MESH:D012221] (625)
Dyspnea [MESH:D004417] (248)
Respiratory Distress Syndrome, Adult [MESH:D012128] (864)
Respiratory Insufficiency [MESH:D012131] (841)
Ige Responsiveness, Atopic [MESH:C564133] (267)
Asthma [MESH:D001249] (4098)
Rhinitis, Allergic, Perennial [MESH:D012221] (625)
Influenza, Human [MESH:D007251] (1075)
Pneumonia [MESH:D011014] (3482)
Legionnaires' Disease [MESH:D007877] (611)
Adenocarcinoma of lung [MESH:C538231] (1487)
Carcinoma, Non-Small-Cell Lung [MESH:D002289] (3540)
C09. Otorhinolaryngologic Diseases
C09. Otorhinolaryngologic Diseases
Ciliary Motility Disorders [MESH:D002925] (104)
Tinnitus [MESH:D014012] (109)
Hearing Loss, Bilateral [MESH:D006312] (55)
Hearing Loss, Sudden [MESH:D003639] (56)
Usher syndrome, type 1D [MESH:C536487] (23)
Usher syndrome, type 1F [MESH:C536489] (11)
Optic atrophy 1 and deafness [MESH:C537124] (30)
Deafness, Autosomal Recessive 23 [MESH:C563705] (11)
Deafness, Autosomal Dominant 28 [MESH:C563890] (8)
Usher syndrome, type 1D [MESH:C536487] (23)
Usher syndrome, type 1F [MESH:C536489] (11)
Cochlear Diseases [MESH:D015834] (39)
Dysphonia [MESH:D055154] (23)
Rhinitis, Allergic, Perennial [MESH:D012221] (625)
C10. Nervous System Diseases
C10. Nervous System Diseases
Not Fully Specified [NFS] (4027)
Uveomeningoencephalitic Syndrome [MESH:D014607] (39)
Spinal Cord Diseases [MESH:D013118] (4376)
Brain Injuries [MESH:D001930] (3429)
Huntington Disease [MESH:D006816] (540)
Hepatic Encephalopathy [MESH:D006501] (1795)
Hypomyelination, Global Cerebral [MESH:C567847] (26)
Adrenoleukodystrophy [MESH:D000326] (1348)
Adrenoleukodystrophy [MESH:D000326] (1348)
Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)
HHH syndrome [MESH:C538380] (29)
Citrullinemia [MESH:D020159] (99)
Pituitary Neoplasms [MESH:D010911] (914)
Joubert syndrome 1 [MESH:C536293] (20)
Infarction, Middle Cerebral Artery [MESH:D020244] (2268)
Infarction, Middle Cerebral Artery [MESH:D020244] (2268)
Cerebral Hemorrhage [MESH:D002543] (2873)
Infarction, Middle Cerebral Artery [MESH:D020244] (2268)
Alzheimer Disease [MESH:D000544] (4275)
Huntington Disease [MESH:D006816] (540)
Borjeson-Forssman-Lehmann syndrome [MESH:C536575] (17)
Status Epilepticus [MESH:D013226] (4014)
Epilepsy, Temporal Lobe [MESH:D004833] (1108)
Phosphoserine Aminotransferase Deficiency [MESH:C567032] (85)
Pituitary Neoplasms [MESH:D010911] (914)
Pituitary Neoplasms [MESH:D010911] (981)
Hypomyelination, Global Cerebral [MESH:C567847] (26)
Adrenoleukodystrophy [MESH:D000326] (1348)
Meningitis, Aseptic [MESH:D008582] (1305)
Meningitis, Aseptic [MESH:D008582] (1305)
Meningitis, Aseptic [MESH:D008582] (1305)
Uveomeningoencephalitic Syndrome [MESH:D014607] (39)
Huntington Disease [MESH:D006816] (540)
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 [MESH:C563575] (77)
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 [MESH:C563750] (56)
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 [MESH:C563750] (56)
Optic Neuropathy, Ischemic [MESH:D018917] (50)
Optic atrophy 1 and deafness [MESH:C537124] (30)
Optic Atrophy, Autosomal Dominant [MESH:D029241] (31)
Hypomyelination, Global Cerebral [MESH:C567847] (26)
Adrenoleukodystrophy [MESH:D000326] (1348)
Neural Tube Defects [MESH:D009436] (2143)
Holoprosencephaly [MESH:D016142] (218)
Hereditary Motor And Sensory Neuropathy VI [MESH:C562851] (31)
Charcot-Marie-Tooth disease, Type 2D [MESH:C537993] (43)
Charcot-Marie-Tooth Disease, Axonal, Type 2A2 [MESH:C563757] (31)
Charcot-Marie-Tooth Disease, Dominant Intermediate C [MESH:C564257] (39)
Tuberous Sclerosis [MESH:D014402] (635)
Amish lethal microcephaly [MESH:C538247] (29)
Phosphoserine Aminotransferase Deficiency [MESH:C567032] (85)
Pituitary Neoplasms [MESH:D010911] (914)
Tuberous Sclerosis [MESH:D014402] (635)
von Hippel-Lindau Disease [MESH:D006623] (580)
Familial apoceruloplasmin deficiency [MESH:C536004] (211)
Huntington Disease [MESH:D006816] (540)
Tuberous Sclerosis [MESH:D014402] (635)
Hypomyelination, Global Cerebral [MESH:C567847] (26)
Hereditary Motor And Sensory Neuropathy VI [MESH:C562851] (31)
Charcot-Marie-Tooth disease, Type 2D [MESH:C537993] (43)
Charcot-Marie-Tooth Disease, Axonal, Type 2A2 [MESH:C563757] (31)
Charcot-Marie-Tooth Disease, Dominant Intermediate C [MESH:C564257] (39)
Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)
Optic atrophy 1 and deafness [MESH:C537124] (30)
Optic Atrophy, Autosomal Dominant [MESH:D029241] (31)
Alzheimer Disease [MESH:D000544] (4275)
Meningism [MESH:D008580] (43)
Ataxia [MESH:D001259] (1138)
Dystonia [MESH:D004421] (848)
Hypokinesia [MESH:D018476] (279)
Memory Disorders [MESH:D008569] (3233)
Learning Disorders [MESH:D007859] (2727)
MORM syndrome [MESH:C536984] (15)
Borjeson-Forssman-Lehmann syndrome [MESH:C536575] (17)
Adrenoleukodystrophy [MESH:D000326] (1348)
Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)
Phosphoserine Aminotransferase Deficiency [MESH:C567032] (85)
Hypomyelination, Global Cerebral [MESH:C567847] (26)
Headache [MESH:D006261] (1416)
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 [MESH:C563575] (77)
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 [MESH:C563750] (56)
Phosphoserine Aminotransferase Deficiency [MESH:C567032] (85)
Dizziness [MESH:D004244] (289)
Taste Disorders [MESH:D013651] (461)
Tinnitus [MESH:D014012] (109)
Hearing Loss, Bilateral [MESH:D006312] (55)
Hearing Loss, Sudden [MESH:D003639] (56)
Usher syndrome, type 1D [MESH:C536487] (23)
Usher syndrome, type 1F [MESH:C536489] (11)
Optic atrophy 1 and deafness [MESH:C537124] (30)
Deafness, Autosomal Recessive 23 [MESH:C563705] (11)
Deafness, Autosomal Dominant 28 [MESH:C563890] (8)
Usher syndrome, type 1D [MESH:C536487] (23)
Usher syndrome, type 1F [MESH:C536489] (11)
Paresthesia [MESH:D010292] (416)
Usher syndrome, type 1D [MESH:C536487] (23)
Usher syndrome, type 1F [MESH:C536489] (11)
Dysphonia [MESH:D055154] (23)
Muscular Dystrophy, Duchenne [MESH:D020388] (942)
Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854)
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 [MESH:C563750] (56)
Diabetic Neuropathies [MESH:D003929] (2442)
Hereditary Motor And Sensory Neuropathy VI [MESH:C562851] (31)
Charcot-Marie-Tooth disease, Type 2D [MESH:C537993] (43)
Charcot-Marie-Tooth Disease, Axonal, Type 2A2 [MESH:C563757] (31)
Charcot-Marie-Tooth Disease, Dominant Intermediate C [MESH:C564257] (39)
Arsenic Poisoning [MESH:D020261] (2540)
Manganese Poisoning [MESH:D020149] (2214)
Brain Injuries [MESH:D001930] (3431)
C11. Eye Diseases
C11. Eye Diseases
MORM syndrome [MESH:C536984] (15)
Ocular Hypertension [MESH:D009798] (1630)
Pterygium [MESH:D011625] (44)
Corneal Dystrophy, Congenital Stromal [MESH:C566452] (90)
Joubert syndrome 1 [MESH:C536293] (20)
Graves Ophthalmopathy [MESH:D049970] (165)
Oculocutaneous albinism type 3 [MESH:C537731] (40)
Corneal Dystrophy, Congenital Stromal [MESH:C566452] (90)
Optic atrophy 1 and deafness [MESH:C537124] (30)
Optic Atrophy, Autosomal Dominant [MESH:D029241] (31)
Schopf-Schulz-Passarge Syndrome [MESH:C565607] (21)
Schopf-Schulz-Passarge Syndrome [MESH:C565607] (21)
Dry Eye Syndromes [MESH:D015352] (533)
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 [MESH:C563575] (77)
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 [MESH:C563750] (56)
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 [MESH:C563750] (56)
Optic Neuropathy, Ischemic [MESH:D018917] (50)
Optic atrophy 1 and deafness [MESH:C537124] (30)
Optic Atrophy, Autosomal Dominant [MESH:D029241] (31)
Graves Ophthalmopathy [MESH:D049970] (165)
Retinal Detachment [MESH:D012163] (1639)
Usher syndrome, type 1D [MESH:C536487] (23)
Usher syndrome, type 1F [MESH:C536489] (11)
Uveomeningoencephalitic Syndrome [MESH:D014607] (39)
Usher syndrome, type 1D [MESH:C536487] (23)
Usher syndrome, type 1F [MESH:C536489] (11)
C12. Male Urogenital Diseases
C12. Male Urogenital Diseases
Prostatic Neoplasms [MESH:D011471] (6135)
Azoospermia [MESH:D053713] (1052)
MORM syndrome [MESH:C536984] (15)
Hypospadias [MESH:D007021] (798)
Penile Induration [MESH:D010411] (495)
Prostatic Neoplasms [MESH:D011471] (6135)
Erectile Dysfunction [MESH:D007172] (1791)
Chlamydia Infections [MESH:D002690] (1693)
Hypospadias [MESH:D007021] (798)
Lipoid congenital adrenal hyperplasia [MESH:C537027] (289)
Lipoid congenital adrenal hyperplasia [MESH:C537027] (289)
Adrenal hyperplasia 2 [MESH:C538236] (89)
Prostatic Neoplasms [MESH:D011471] (6135)
Urinary Bladder Neoplasms [MESH:D001749] (4079)
Carcinoma, Renal Cell [MESH:D002292] (2975)
Anuria [MESH:D001002] (833)
Diabetic Nephropathies [MESH:D003928] (2301)
Fanconi Syndrome [MESH:D005198] (253)
Hypertension, Renal [MESH:D006977] (698)
Nephrolithiasis [MESH:D053040] (492)
Joubert syndrome 1 [MESH:C536293] (20)
Carcinoma, Renal Cell [MESH:D002292] (2975)
Nephritis, Interstitial [MESH:D009395] (1927)
Glomerulonephritis, IGA [MESH:D005922] (897)
Glomerulonephritis, Membranoproliferative [MESH:D015432] (770)
Glomerulonephritis, Membranous [MESH:D015433] (642)
Glomerulosclerosis, Focal Segmental [MESH:D005923] (1754)
Nephrotic Syndrome [MESH:D009404] (1536)
Acute Kidney Injury [MESH:D058186] (4142)
Kidney Failure, Chronic [MESH:D007676] (2930)
Fanconi Syndrome [MESH:D005198] (253)
Vitamin D-Dependent Rickets, Type 2A [MESH:C562794] (137)
Hemolytic-Uremic Syndrome [MESH:D006463] (2435)
Ureteral Obstruction [MESH:D014517] (575)
Urinary Bladder Neoplasms [MESH:D001749] (4079)
Anuria [MESH:D001002] (833)
Proteinuria [MESH:D011507] (3293)
Nephrolithiasis [MESH:D053040] (492)
C13. Female Urogenital Diseases and Pregnancy Complications
C13. Female Urogenital Diseases and Pregnancy Complications
Not Fully Specified [NFS] (1116)
Endometriosis [MESH:D004715] (2461)
Ovarian Neoplasms [MESH:D010051] (3281)
Polycystic Ovary Syndrome [MESH:D011085] (2186)
Infertility, Female [MESH:D007247] (2184)
Chlamydia Infections [MESH:D002690] (1693)
Endometrial Hyperplasia [MESH:D004714] (263)
Endometrial Neoplasms [MESH:D016889] (1984)
Hypospadias [MESH:D007021] (798)
Lipoid congenital adrenal hyperplasia [MESH:C537027] (289)
Lipoid congenital adrenal hyperplasia [MESH:C537027] (289)
Adrenal hyperplasia 2 [MESH:C538236] (89)
Ovarian Neoplasms [MESH:D010051] (3281)
Endometrial Neoplasms [MESH:D016889] (1989)
Urinary Bladder Neoplasms [MESH:D001749] (4079)
Carcinoma, Renal Cell [MESH:D002292] (2975)
Anuria [MESH:D001002] (833)
Diabetic Nephropathies [MESH:D003928] (2301)
Fanconi Syndrome [MESH:D005198] (253)
Hypertension, Renal [MESH:D006977] (698)
Nephrolithiasis [MESH:D053040] (492)
Joubert syndrome 1 [MESH:C536293] (20)
Carcinoma, Renal Cell [MESH:D002292] (2975)
Nephritis, Interstitial [MESH:D009395] (1927)
Glomerulonephritis, IGA [MESH:D005922] (897)
Glomerulonephritis, Membranoproliferative [MESH:D015432] (770)
Glomerulonephritis, Membranous [MESH:D015433] (642)
Glomerulosclerosis, Focal Segmental [MESH:D005923] (1754)
Nephrotic Syndrome [MESH:D009404] (1536)
Acute Kidney Injury [MESH:D058186] (4142)
Kidney Failure, Chronic [MESH:D007676] (2930)
Fanconi Syndrome [MESH:D005198] (253)
Vitamin D-Dependent Rickets, Type 2A [MESH:C562794] (137)
Hemolytic-Uremic Syndrome [MESH:D006463] (2435)
Ureteral Obstruction [MESH:D014517] (575)
Urinary Bladder Neoplasms [MESH:D001749] (4079)
Anuria [MESH:D001002] (833)
Proteinuria [MESH:D011507] (3293)
Nephrolithiasis [MESH:D053040] (492)
Diabetes, Gestational [MESH:D016640] (1157)
Pregnancy Complications, Infectious [MESH:D011251] (19)
Embryo Loss [MESH:D020964] (288)
Gestational Trophoblastic Disease [MESH:D031901] (65)
Prenatal Exposure Delayed Effects [MESH:D011297] (870)
C14. Cardiovascular Diseases
C14. Cardiovascular Diseases
Not Fully Specified [NFS] (2667)
Ductus Arteriosus, Patent [MESH:D004374] (325)
DiGeorge Syndrome [MESH:D004062] (236)
Heart Arrest [MESH:D006323] (1926)
Heart Failure [MESH:D006333] (4058)
Tachycardia [MESH:D013610] (3339)
Atrial Fibrillation, Familial, 6 [MESH:C567400] (196)
Cardiomyopathy, Dilated [MESH:D002311] (1576)
Hypertrophy, Left Ventricular [MESH:D017379] (1430)
Cardiomyopathy, Dilated [MESH:D002311] (1576)
Diabetic Cardiomyopathies [MESH:D058065] (1995)
Endomyocardial Fibrosis [MESH:D004719] (521)
Myocardial Reperfusion Injury [MESH:D015428] (3500)
Myocarditis [MESH:D009205] (1708)
Cardiomyopathy, Familial Hypertrophic, 1 [MESH:C566005] (190)
Ductus Arteriosus, Patent [MESH:D004374] (325)
DiGeorge Syndrome [MESH:D004062] (236)
Aortic Valve Insufficiency [MESH:D001022] (1002)
Cardiomyopathy, Hypertrophic [MESH:D002312] (1451)
Myocardial Reperfusion Injury [MESH:D015428] (3500)
Myocardial Stunning [MESH:D017682] (1816)
Coronary Artery Disease [MESH:D003324] (2685)
Coronary Restenosis [MESH:D023903] (1683)
Myocardial Stunning [MESH:D017682] (1816)
Ventricular Dysfunction, Left [MESH:D018487] (1631)
Angioedema [MESH:D000799] (837)
Diabetic Angiopathies [MESH:D003925] (1984)
Hyperemia [MESH:D006940] (2372)
Hypotension [MESH:D007022] (4045)
Optic Neuropathy, Ischemic [MESH:D018917] (50)
Varicose Veins [MESH:D014648] (383)
Aortic Aneurysm, Familial Thoracic 6 [MESH:C567085] (221)
von Hippel-Lindau Disease [MESH:D006623] (580)
Aortic Aneurysm, Familial Thoracic 6 [MESH:C567085] (221)
Atherosclerosis [MESH:D050197] (4188)
Coronary Artery Disease [MESH:D003324] (2685)
Infarction, Middle Cerebral Artery [MESH:D020244] (2268)
Infarction, Middle Cerebral Artery [MESH:D020244] (2268)
Cerebral Hemorrhage [MESH:D002543] (2873)
Infarction, Middle Cerebral Artery [MESH:D020244] (2268)
Multiple Myeloma [MESH:D009101] (2765)
Ehlers-Danlos syndrome type 3 [MESH:C536196] (142)
Hypertension, Renal [MESH:D006977] (698)
Myocardial Reperfusion Injury [MESH:D015428] (3500)
Myocardial Stunning [MESH:D017682] (1816)
Coronary Artery Disease [MESH:D003324] (2685)
Coronary Restenosis [MESH:D023903] (1683)
Myocardial Stunning [MESH:D017682] (1816)
Raynaud Disease [MESH:D011928] (490)
Aortic Aneurysm, Familial Thoracic 6 [MESH:C567085] (221)
Myocardial Reperfusion Injury [MESH:D015428] (3500)
C15. Hemic and Lymphatic Diseases
C15. Hemic and Lymphatic Diseases
Pancytopenia [MESH:D010198] (332)
Anemia, Aplastic [MESH:D000741] (1925)
Hemolytic-Uremic Syndrome [MESH:D006463] (2435)
Anemia, Megaloblastic [MESH:D000749] (288)
Thrombocythemia, Essential [MESH:D013920] (707)
Platelet Glycoprotein IV Deficiency [MESH:C564245] (173)
Hemolytic-Uremic Syndrome [MESH:D006463] (2435)
Thrombocythemia, Essential [MESH:D013920] (707)
Hypoalbuminemia [MESH:D034141] (1332)
Multiple Myeloma [MESH:D009101] (2765)
Anemia, Aplastic [MESH:D000741] (1925)
Myeloproliferative Disorder, Chronic, with Eosinophilia [MESH:C565054] (134)
Leukemia, Myelogenous, Chronic, BCR-ABL Positive [MESH:D015464] (1032)
Polycythemia Vera [MESH:D011087] (244)
Thrombocythemia, Essential [MESH:D013920] (707)
Thrombocythemia, Essential [MESH:D013920] (707)
Multiple Myeloma [MESH:D009101] (2765)
Ehlers-Danlos syndrome type 3 [MESH:C536196] (142)
Myeloproliferative Disorder, Chronic, with Eosinophilia [MESH:C565054] (134)
Neutropenia [MESH:D009503] (1629)
Job Syndrome [MESH:D007589] (772)
DiGeorge Syndrome [MESH:D004062] (236)
Sarcoidosis [MESH:D012507] (895)
Leukemia, Lymphocytic, Chronic, B-Cell [MESH:D015451] (2562)
Leukemia-Lymphoma, Adult T-Cell [MESH:D015459] (138)
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D015452] (354)
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054218] (510)
Hodgkin Disease [MESH:D006689] (1082)
Lymphoma, Follicular [MESH:D008224] (1025)
Lymphoma, Mantle-Cell [MESH:D020522] (561)
Lymphoma, Large B-Cell, Diffuse [MESH:D016403] (2012)
C16. Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C16. Congenital, Hereditary, and Neonatal Diseases and Abnormalities
MORM syndrome [MESH:C536984] (15)
Beckwith-Wiedemann Syndrome [MESH:D001506] (193)
Holoprosencephaly [MESH:D016142] (218)
Netherton Syndrome [MESH:D056770] (43)
DiGeorge Syndrome [MESH:D004062] (236)
Usher syndrome, type 1D [MESH:C536487] (23)
Usher syndrome, type 1F [MESH:C536489] (11)
Odontoonychodermal dysplasia [MESH:C537742] (21)
Ductus Arteriosus, Patent [MESH:D004374] (325)
DiGeorge Syndrome [MESH:D004062] (236)
Beckwith-Wiedemann Syndrome [MESH:D001506] (193)
Holoprosencephaly [MESH:D016142] (218)
DiGeorge Syndrome [MESH:D004062] (236)
Joubert syndrome 1 [MESH:C536293] (20)
DiGeorge Syndrome [MESH:D004062] (236)
Holoprosencephaly [MESH:D016142] (218)
DiGeorge Syndrome [MESH:D004062] (236)
Cleft Palate [MESH:D002972] (1330)
Amish lethal microcephaly [MESH:C538247] (29)
Phosphoserine Aminotransferase Deficiency [MESH:C567032] (85)
Acromicric dysplasia [MESH:C535662] (520)
Holoprosencephaly [MESH:D016142] (218)
Neural Tube Defects [MESH:D009436] (2143)
Holoprosencephaly [MESH:D016142] (218)
Hereditary Motor And Sensory Neuropathy VI [MESH:C562851] (31)
Charcot-Marie-Tooth disease, Type 2D [MESH:C537993] (43)
Charcot-Marie-Tooth Disease, Axonal, Type 2A2 [MESH:C563757] (31)
Charcot-Marie-Tooth Disease, Dominant Intermediate C [MESH:C564257] (39)
Tuberous Sclerosis [MESH:D014402] (635)
Amish lethal microcephaly [MESH:C538247] (29)
Phosphoserine Aminotransferase Deficiency [MESH:C567032] (85)
Odontoonychodermal dysplasia [MESH:C537742] (21)
Ehlers-Danlos syndrome type 3 [MESH:C536196] (142)
Epidermolysis Bullosa, Junctional, Non-Herlitz Type [MESH:C562639] (150)
Netherton Syndrome [MESH:D056770] (43)
Cleft Palate [MESH:D002972] (1330)
Cleft Lip [MESH:D002971] (914)
Cleft Palate [MESH:D002972] (1330)
Schopf-Schulz-Passarge Syndrome [MESH:C565607] (21)
Odontoonychodermal dysplasia [MESH:C537742] (21)
Hypospadias [MESH:D007021] (798)
Lipoid congenital adrenal hyperplasia [MESH:C537027] (289)
Lipoid congenital adrenal hyperplasia [MESH:C537027] (289)
Adrenal hyperplasia 2 [MESH:C538236] (89)
Platelet Glycoprotein IV Deficiency [MESH:C564245] (173)
Camurati-Engelmann Syndrome [MESH:D003966] (492)
Cystic Fibrosis [MESH:D003550] (760)
Hyperthyroxinemia, Familial Dysalbuminemic [MESH:D050010] (478)
Lipoid congenital adrenal hyperplasia [MESH:C537027] (289)
Adrenal hyperplasia 2 [MESH:C538236] (89)
Cardiomyopathy, Familial Hypertrophic, 1 [MESH:C566005] (190)
Beckwith-Wiedemann Syndrome [MESH:D001506] (193)
Holoprosencephaly [MESH:D016142] (218)
DiGeorge Syndrome [MESH:D004062] (236)
Oculocutaneous albinism type 3 [MESH:C537731] (40)
Corneal Dystrophy, Congenital Stromal [MESH:C566452] (90)
Optic atrophy 1 and deafness [MESH:C537124] (30)
Optic Atrophy, Autosomal Dominant [MESH:D029241] (31)
Usher syndrome, type 1D [MESH:C536487] (23)
Usher syndrome, type 1F [MESH:C536489] (11)
Muscular Dystrophy, Duchenne [MESH:D020388] (942)
Borjeson-Forssman-Lehmann syndrome [MESH:C536575] (17)
Adrenoleukodystrophy [MESH:D000326] (1348)
Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)
Huntington Disease [MESH:D006816] (540)
Tuberous Sclerosis [MESH:D014402] (635)
Hypomyelination, Global Cerebral [MESH:C567847] (26)
Hereditary Motor And Sensory Neuropathy VI [MESH:C562851] (31)
Charcot-Marie-Tooth disease, Type 2D [MESH:C537993] (43)
Charcot-Marie-Tooth Disease, Axonal, Type 2A2 [MESH:C563757] (31)
Charcot-Marie-Tooth Disease, Dominant Intermediate C [MESH:C564257] (39)
Borjeson-Forssman-Lehmann syndrome [MESH:C536575] (17)
Adrenoleukodystrophy [MESH:D000326] (1348)
Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)
Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)
Optic atrophy 1 and deafness [MESH:C537124] (30)
Optic Atrophy, Autosomal Dominant [MESH:D029241] (31)
3-Hydroxyacyl-CoA Dehydrogenase Deficiency [MESH:C535310] (80)
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency [MESH:C567784] (102)
Hydroxykynureninuria [MESH:C536081] (52)
2-Methylbutyryl-CoA Dehydrogenase Deficiency [MESH:C566487] (38)
Oculocutaneous albinism type 3 [MESH:C537731] (40)
HHH syndrome [MESH:C538380] (29)
Citrullinemia [MESH:D020159] (99)
Hypomyelination, Global Cerebral [MESH:C567847] (26)
Adrenoleukodystrophy [MESH:D000326] (1348)
Adrenoleukodystrophy [MESH:D000326] (1348)
Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)
HHH syndrome [MESH:C538380] (29)
Citrullinemia [MESH:D020159] (99)
Glycogen Storage Disease Type I [MESH:D005953] (140)
Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)
Carnitine palmitoyl transferase 1A deficiency [MESH:C535588] (133)
Carnitine-Acylcarnitine Translocase Deficiency [MESH:C562812] (51)
Hyperlipidemia, Familial Combined [MESH:D006950] (372)
Hyperlipoproteinemia Type I [MESH:D008072] (219)
Hyperlipoproteinemia Type II [MESH:D006938] (707)
Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)
Hemochromatosis, type 4 [MESH:C537249] (89)
Vitamin D-Dependent Rickets, Type 2A [MESH:C562794] (137)
Adrenoleukodystrophy [MESH:D000326] (1348)
Fanconi Syndrome [MESH:D005198] (253)
Vitamin D-Dependent Rickets, Type 2A [MESH:C562794] (137)
Lipoid congenital adrenal hyperplasia [MESH:C537027] (289)
Adrenal hyperplasia 2 [MESH:C538236] (89)
Muscular Dystrophy, Duchenne [MESH:D020388] (942)
Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854)
Tuberous Sclerosis [MESH:D014402] (635)
Cowden-Like Syndrome [MESH:C567337] (52)
Multiple Endocrine Neoplasia, Type IV [MESH:C567059] (297)
Darier Disease [MESH:D007644] (125)
Dermatitis, Atopic [MESH:D003876] (2052)
Netherton Syndrome [MESH:D056770] (43)
Oculocutaneous albinism type 3 [MESH:C537731] (40)
Odontoonychodermal dysplasia [MESH:C537742] (21)
Ehlers-Danlos syndrome type 3 [MESH:C536196] (142)
Epidermolysis Bullosa, Junctional, Non-Herlitz Type [MESH:C562639] (150)
Netherton Syndrome [MESH:D056770] (43)
Schopf-Schulz-Passarge Syndrome [MESH:C565607] (21)
Cystic Fibrosis [MESH:D003550] (760)
Netherton Syndrome [MESH:D056770] (43)
C17. Skin and Connective Tissue Diseases
C17. Skin and Connective Tissue Diseases
Lupus Erythematosus, Systemic [MESH:D008180] (2317)
Penile Induration [MESH:D010411] (495)
Keloid [MESH:D007627] (1111)
Ehlers-Danlos syndrome type 3 [MESH:C536196] (142)
Arthritis, Rheumatoid [MESH:D001172] (3603)
Exanthema [MESH:D005076] (301)
Lipomatosis [MESH:D008068] (182)
Nephrogenic Fibrosing Dermopathy [MESH:D054989] (452)
Chloracne [MESH:D054506] (1274)
Breast Neoplasms [MESH:D001943] (6077)
Dermatitis, Atopic [MESH:D003876] (2052)
Dermatitis, Allergic Contact [MESH:D017449] (3241)
Serum Sickness [MESH:D012713] (484)
Stevens-Johnson Syndrome [MESH:D013262] (1163)
Stevens-Johnson Syndrome [MESH:D013262] (1163)
Chloracne [MESH:D054506] (1274)
Schopf-Schulz-Passarge Syndrome [MESH:C565607] (21)
Alopecia Areata [MESH:D000506] (168)
Darier Disease [MESH:D007644] (125)
Netherton Syndrome [MESH:D056770] (43)
Schopf-Schulz-Passarge Syndrome [MESH:C565607] (21)
Vitiligo [MESH:D014820] (504)
Oculocutaneous albinism type 3 [MESH:C537731] (40)
Sebaceous Gland Neoplasms [MESH:D012626] (154)
Odontoonychodermal dysplasia [MESH:C537742] (21)
Ehlers-Danlos syndrome type 3 [MESH:C536196] (142)
Epidermolysis Bullosa, Junctional, Non-Herlitz Type [MESH:C562639] (150)
Netherton Syndrome [MESH:D056770] (43)
Dermatitis, Atopic [MESH:D003876] (2052)
Dermatitis, Allergic Contact [MESH:D017449] (3241)
Darier Disease [MESH:D007644] (125)
Dermatitis, Atopic [MESH:D003876] (2052)
Netherton Syndrome [MESH:D056770] (43)
Oculocutaneous albinism type 3 [MESH:C537731] (40)
Odontoonychodermal dysplasia [MESH:C537742] (21)
Ehlers-Danlos syndrome type 3 [MESH:C536196] (142)
Epidermolysis Bullosa, Junctional, Non-Herlitz Type [MESH:C562639] (150)
Netherton Syndrome [MESH:D056770] (43)
Schopf-Schulz-Passarge Syndrome [MESH:C565607] (21)
Leishmaniasis, Mucocutaneous [MESH:D007897] (606)
HIV-Associated Lipodystrophy Syndrome [MESH:D039682] (91)
Aortic Aneurysm, Familial Thoracic 6 [MESH:C567085] (221)
Angioedema [MESH:D000799] (837)
Epidermolysis Bullosa, Junctional, Non-Herlitz Type [MESH:C562639] (150)
Stevens-Johnson Syndrome [MESH:D013262] (1163)
Sebaceous Gland Neoplasms [MESH:D012626] (154)
C18. Nutritional and Metabolic Diseases
C18. Nutritional and Metabolic Diseases
Metabolic Syndrome X [MESH:D024821] (2151)
Acidosis, Lactic [MESH:D000140] (204)
Hepatic Encephalopathy [MESH:D006501] (1795)
Hypomyelination, Global Cerebral [MESH:C567847] (26)
Adrenoleukodystrophy [MESH:D000326] (1348)
Adrenoleukodystrophy [MESH:D000326] (1348)
Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)
HHH syndrome [MESH:C538380] (29)
Citrullinemia [MESH:D020159] (99)
Calcinosis [MESH:D002114] (2989)
Vitamin D-Dependent Rickets, Type 2A [MESH:C562794] (137)
Diabetes Mellitus, Experimental [MESH:D003921] (4771)
Diabetes Mellitus, Type 1 [MESH:D003922] (1897)
Diabetes Mellitus, Type 2 [MESH:D003924] (4219)
Diabetes, Gestational [MESH:D016640] (1152)
Glucose Intolerance [MESH:D018149] (605)
Hyperinsulinemic Hypoglycemia, Familial, 4 [MESH:C566493] (80)
Metabolic Syndrome X [MESH:D024821] (2151)
Carnitine palmitoyl transferase 1A deficiency [MESH:C535588] (133)
Hyperinsulinemic Hypoglycemia, Familial, 4 [MESH:C566493] (80)
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency [MESH:C567784] (102)
Familial apoceruloplasmin deficiency [MESH:C536004] (211)
Hemochromatosis, type 4 [MESH:C537249] (89)
Lipomatosis [MESH:D008068] (182)
Hypercholesterolemia [MESH:D006937] (1404)
Hyperlipidemia, Familial Combined [MESH:D006950] (372)
Hypertriglyceridemia [MESH:D015228] (808)
Hyperlipoproteinemia Type I [MESH:D008072] (219)
Hyperlipoproteinemia Type II [MESH:D006938] (707)
Carnitine palmitoyl transferase 1A deficiency [MESH:C535588] (133)
Carnitine-Acylcarnitine Translocase Deficiency [MESH:C562812] (51)
HIV-Associated Lipodystrophy Syndrome [MESH:D039682] (91)
Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)
3-Hydroxyacyl-CoA Dehydrogenase Deficiency [MESH:C535310] (80)
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency [MESH:C567784] (102)
Hydroxykynureninuria [MESH:C536081] (52)
2-Methylbutyryl-CoA Dehydrogenase Deficiency [MESH:C566487] (38)
Oculocutaneous albinism type 3 [MESH:C537731] (40)
HHH syndrome [MESH:C538380] (29)
Citrullinemia [MESH:D020159] (99)
Hypomyelination, Global Cerebral [MESH:C567847] (26)
Adrenoleukodystrophy [MESH:D000326] (1348)
Adrenoleukodystrophy [MESH:D000326] (1348)
Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)
HHH syndrome [MESH:C538380] (29)
Citrullinemia [MESH:D020159] (99)
Glycogen Storage Disease Type I [MESH:D005953] (140)
Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)
Carnitine palmitoyl transferase 1A deficiency [MESH:C535588] (133)
Carnitine-Acylcarnitine Translocase Deficiency [MESH:C562812] (51)
Hyperlipidemia, Familial Combined [MESH:D006950] (372)
Hyperlipoproteinemia Type I [MESH:D008072] (219)
Hyperlipoproteinemia Type II [MESH:D006938] (707)
Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)
Hemochromatosis, type 4 [MESH:C537249] (89)
Vitamin D-Dependent Rickets, Type 2A [MESH:C562794] (137)
Adrenoleukodystrophy [MESH:D000326] (1348)
Fanconi Syndrome [MESH:D005198] (253)
Vitamin D-Dependent Rickets, Type 2A [MESH:C562794] (137)
Lipoid congenital adrenal hyperplasia [MESH:C537027] (289)
Adrenal hyperplasia 2 [MESH:C538236] (89)
Mitochondrial complex I deficiency [MESH:C537475] (140)
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 [MESH:C563575] (77)
Mitochondrial Phosphate Carrier Deficiency [MESH:C563665] (41)
Mitochondrial Complex III Deficiency [MESH:C565128] (54)
Cowden-Like Syndrome [MESH:C567337] (52)
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency [MESH:C567784] (102)
Hypomyelination, Global Cerebral [MESH:C567847] (26)
Optic Atrophy, Autosomal Dominant [MESH:D029241] (31)
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 [MESH:C563750] (56)
Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)
Vitamin D-Dependent Rickets, Type 2A [MESH:C562794] (137)
Vitamin D-Dependent Rickets, Type 2A [MESH:C562794] (137)
HIV-Associated Lipodystrophy Syndrome [MESH:D039682] (91)
Hyponatremia [MESH:D007010] (789)
Folic Acid Deficiency [MESH:D005494] (134)
Vitamin D-Dependent Rickets, Type 2A [MESH:C562794] (137)
Borjeson-Forssman-Lehmann syndrome [MESH:C536575] (17)
MORM syndrome [MESH:C536984] (15)
Obesity, Morbid [MESH:D009767] (515)
C19. Endocrine System Diseases
C19. Endocrine System Diseases
Adrenal Gland Neoplasms [MESH:D000310] (917)
Lipoid congenital adrenal hyperplasia [MESH:C537027] (289)
Adrenal hyperplasia 2 [MESH:C538236] (89)
Glucocorticoid Deficiency 2 [MESH:C564577] (27)
Adrenoleukodystrophy [MESH:D000326] (1348)
Diabetes, Gestational [MESH:D016640] (1152)
Diabetes Mellitus, Experimental [MESH:D003921] (4771)
Diabetes Mellitus, Type 1 [MESH:D003922] (1897)
Diabetes Mellitus, Type 2 [MESH:D003924] (4219)
Diabetic Angiopathies [MESH:D003925] (1984)
Diabetic Cardiomyopathies [MESH:D058065] (1995)
Diabetic Nephropathies [MESH:D003928] (2301)
Diabetic Neuropathies [MESH:D003929] (2443)
Adrenal Gland Neoplasms [MESH:D000310] (917)
Ovarian Neoplasms [MESH:D010051] (3275)
Pancreatic Neoplasms [MESH:D010190] (3820)
Pituitary Neoplasms [MESH:D010911] (981)
Thyroid Neoplasms [MESH:D013964] (2040)
Multiple Endocrine Neoplasia, Type IV [MESH:C567059] (297)
Lipoid congenital adrenal hyperplasia [MESH:C537027] (289)
Lipoid congenital adrenal hyperplasia [MESH:C537027] (289)
Adrenal hyperplasia 2 [MESH:C538236] (89)
Borjeson-Forssman-Lehmann syndrome [MESH:C536575] (17)
Ovarian Neoplasms [MESH:D010051] (3281)
Polycystic Ovary Syndrome [MESH:D011085] (2186)
Hyperparathyroidism [MESH:D006961] (1475)
DiGeorge Syndrome [MESH:D004062] (236)
Pituitary Neoplasms [MESH:D010911] (981)
Thyroid Neoplasms [MESH:D013964] (2040)
Graves Ophthalmopathy [MESH:D049970] (165)
Graves Ophthalmopathy [MESH:D049970] (165)
Hyperthyroxinemia, Familial Dysalbuminemic [MESH:D050010] (478)
C20. Immune System Diseases
C20. Immune System Diseases
Glomerulonephritis, Membranoproliferative [MESH:D015432] (770)
Graft vs Host Disease [MESH:D006086] (674)
Arthritis, Rheumatoid [MESH:D001172] (3601)
Diabetes Mellitus, Type 1 [MESH:D003922] (1893)
Glomerulonephritis, IGA [MESH:D005922] (897)
Glomerulonephritis, Membranous [MESH:D015433] (642)
Hepatitis, Autoimmune [MESH:D019693] (1982)
Lupus Erythematosus, Systemic [MESH:D008180] (2317)
Uveomeningoencephalitic Syndrome [MESH:D014607] (39)
Graves Ophthalmopathy [MESH:D049970] (165)
Serum Sickness [MESH:D012713] (484)
Stevens-Johnson Syndrome [MESH:D013262] (1163)
Dermatitis, Allergic Contact [MESH:D017449] (3241)
Anaphylaxis [MESH:D000707] (299)
Dermatitis, Atopic [MESH:D003876] (2052)
Ige Responsiveness, Atopic [MESH:C564133] (267)
Asthma [MESH:D001249] (3914)
Rhinitis, Allergic, Perennial [MESH:D012221] (625)
Angioedema [MESH:D000799] (837)
Serum Sickness [MESH:D012713] (484)
Acquired Immunodeficiency Syndrome [MESH:D000163] (743)
HIV-Associated Lipodystrophy Syndrome [MESH:D039682] (91)
HIV Seropositivity [MESH:D006679] (480)
AIDS-related Kaposi sarcoma [MESH:C554498] (914)
Job Syndrome [MESH:D007589] (772)
Multiple Myeloma [MESH:D009101] (2767)
Leukemia, Lymphocytic, Chronic, B-Cell [MESH:D015451] (2562)
Leukemia-Lymphoma, Adult T-Cell [MESH:D015459] (138)
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D015452] (354)
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054218] (510)
Hodgkin Disease [MESH:D006689] (1082)
Lymphoma, Follicular [MESH:D008224] (1025)
Lymphoma, Mantle-Cell [MESH:D020522] (561)
Lymphoma, Large B-Cell, Diffuse [MESH:D016403] (2012)
Multiple Myeloma [MESH:D009101] (2765)
C22. Animal Diseases
C22. Animal Diseases
Disease Models, Animal [MESH:D004195] (2058)
Mammary Neoplasms, Animal [MESH:D015674] (2735)
Paratuberculosis [MESH:D010283] (427)
Salmonella Infections, Animal [MESH:D012481] (604)
C23. Pathological Conditions, Signs and Symptoms
C23. Pathological Conditions, Signs and Symptoms
Alopecia [MESH:D000505] (1383)
Ventricular Remodeling [MESH:D020257] (686)
Congenital diaphragmatic hernia [MESH:C538080] (381)
Hypertrophy, Left Ventricular [MESH:D017379] (1430)
Intestinal Polyps [MESH:D007417] (1592)
Hyperplasia [MESH:D006965] (2463)
Ischemia [MESH:D007511] (3049)
Lithiasis [MESH:D020347] (345)
Metaplasia [MESH:D008679] (1469)
Necrosis [MESH:D009336] (4019)
Nerve Degeneration [MESH:D009410] (4061)
Ulcer [MESH:D014456] (392)
Tachycardia [MESH:D013610] (3339)
Atrial Fibrillation, Familial, 6 [MESH:C567400] (196)
Embryo Loss [MESH:D020964] (288)
Sudden Infant Death [MESH:D013398] (268)
Disease Progression [MESH:D018450] (2868)
Nephrogenic Fibrosing Dermopathy [MESH:D054989] (452)
Peritoneal Fibrosis [MESH:D056627] (488)
Keloid [MESH:D007627] (1110)
Borjeson-Forssman-Lehmann syndrome [MESH:C536575] (17)
Cerebral Hemorrhage [MESH:D002543] (2872)
HHH syndrome [MESH:C538380] (29)
Viremia [MESH:D014766] (42)
Neoplasm Invasiveness [MESH:D009361] (3388)
Neoplasm Metastasis [MESH:D009362] (4441)
Neoplasm Recurrence, Local [MESH:D009364] (1949)
Cell Transformation, Neoplastic [MESH:D002471] (3389)
Myocardial Reperfusion Injury [MESH:D015428] (3500)
Chills [MESH:D023341] (644)
Fatigue [MESH:D005221] (437)
Fever [MESH:D005334] (2856)
Weight Gain [MESH:D015430] (2595)
Weight Loss [MESH:D015431] (2512)
Borjeson-Forssman-Lehmann syndrome [MESH:C536575] (17)
MORM syndrome [MESH:C536984] (15)
Obesity, Morbid [MESH:D009767] (515)
Meningism [MESH:D008580] (43)
Ataxia [MESH:D001259] (984)
Dystonia [MESH:D004421] (848)
Hypokinesia [MESH:D018476] (279)
Memory Disorders [MESH:D008569] (3233)
Learning Disorders [MESH:D007859] (2727)
MORM syndrome [MESH:C536984] (15)
Phosphoserine Aminotransferase Deficiency [MESH:C567032] (85)
Hypomyelination, Global Cerebral [MESH:C567847] (26)
Headache [MESH:D006261] (1417)
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 [MESH:C563575] (77)
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 [MESH:C563750] (56)
Phosphoserine Aminotransferase Deficiency [MESH:C567032] (85)
Dizziness [MESH:D004244] (289)
Taste Disorders [MESH:D013651] (461)
Tinnitus [MESH:D014012] (109)
Deafness [MESH:D003638] (593)
Hearing Loss, Bilateral [MESH:D006312] (55)
Hearing Loss, Sudden [MESH:D003639] (56)
Optic atrophy 1 and deafness [MESH:C537124] (30)
Deafness, Autosomal Recessive 23 [MESH:C563705] (11)
Deafness, Autosomal Dominant 28 [MESH:C563890] (8)
Usher syndrome, type 1D [MESH:C536487] (23)
Usher syndrome, type 1F [MESH:C536489] (11)
Paresthesia [MESH:D010292] (416)
Dysphonia [MESH:D055154] (23)
Abdominal Pain [MESH:D015746] (248)
Chest Pain [MESH:D002637] (2642)
Headache [MESH:D006261] (1417)
Abdominal Pain [MESH:D015746] (248)
Anorexia [MESH:D000855] (854)
Diarrhea [MESH:D003967] (858)
Nausea [MESH:D009325] (2300)
Vomiting [MESH:D014839] (1354)
Anoxia [MESH:D000860] (1698)
Dyspnea [MESH:D004417] (248)
Hypercapnia [MESH:D006935] (264)
Aortic Aneurysm, Familial Thoracic 6 [MESH:C567085] (221)
Proteinuria [MESH:D011507] (3293)
C24. Occupational Diseases
C24. Occupational Diseases
Berylliosis [MESH:D001607] (2005)
C25. Chemically-Induced Disorders
C25. Chemically-Induced Disorders
Drug-Induced Liver Injury [MESH:D056486] (4936)
Serum Sickness [MESH:D012713] (484)
Stevens-Johnson Syndrome [MESH:D013262] (1163)
Arsenic Poisoning [MESH:D020261] (2540)
Drug-Induced Liver Injury [MESH:D056486] (4936)
Manganese Poisoning [MESH:D020149] (2214)
Neurotoxicity Syndromes [MESH:D020258] (3323)
Amphetamine-Related Disorders [MESH:D019969] (2858)
Cocaine-Related Disorders [MESH:D019970] (3054)
Substance Withdrawal Syndrome [MESH:D013375] (2956)
Alcoholism [MESH:D000437] (1519)
Liver Cirrhosis, Alcoholic [MESH:D008104] (3066)
Heroin Dependence [MESH:D006556] (950)
Morphine Dependence [MESH:D009021] (855)
C26. Wounds and Injuries
C26. Wounds and Injuries
Not Fully Specified [NFS] (2454)
Brain Injuries [MESH:D001930] (3431)
Radiation Injuries, Experimental [MESH:D011833] (2662)
Brain Injuries [MESH:D001930] (3431)
D03. Heterocyclic Compounds
D03. Heterocyclic Compounds
Lamivudine [MESH:D019259] (10)
D13. Nucleic Acids, Nucleotides, and Nucleosides
D13. Nucleic Acids, Nucleotides, and Nucleosides
Lamivudine [MESH:D019259] (10)
Lamivudine [MESH:D019259] (10)
Lamivudine [MESH:D019259] (10)
E. Analytical, Diagnostic and Therapeutic Techniques and Equipment
E. Analytical, Diagnostic and Therapeutic Techniques and Equipment
Borjeson-Forssman-Lehmann syndrome [MESH:C536575] (17)
MORM syndrome [MESH:C536984] (15)
F. Psychiatry and Psychology
F. Psychiatry and Psychology
MORM syndrome [MESH:C536984] (15)
Phosphoserine Aminotransferase Deficiency [MESH:C567032] (85)
Hypomyelination, Global Cerebral [MESH:C567847] (26)
MORM syndrome [MESH:C536984] (15)
Lipoid congenital adrenal hyperplasia [MESH:C537027] (289)
G. Phenomena and Processes
G. Phenomena and Processes
Borjeson-Forssman-Lehmann syndrome [MESH:C536575] (17)
MORM syndrome [MESH:C536984] (15)