more general categories
information about this item
1. Human Genes
1. Human Genes
interleukin 10 [HGNC:IL10] (187)
2. Interaction: Human Genes and Chemicals
2. Interaction: Human Genes and Chemicals
expression (2187)
reaction (1574)
secretion (901)
A. Anatomy
A. Anatomy
Meier-Gorlin syndrome [MESH:C538012] (133)
Frontometaphyseal dysplasia [MESH:C538064] (36)
Hypochondroplasia [MESH:C562937] (66)
Meier-Gorlin syndrome [MESH:C538012] (133)
Thanatophoric dysplasia, type 2 [MESH:C536508] (66)
Mandibuloacral dysplasia with type A lipodystrophy [MESH:C535705] (490)
Epidermolysis Bullosa Simplex With Pyloric Atresia [MESH:C567408] (34)
Brain Small Vessel Disease with Hemorrhage [MESH:C564372] (77)
Brain Small Vessel Disease with Hemorrhage [MESH:C564372] (77)
Meier-Gorlin syndrome [MESH:C538012] (133)
Peters anomaly [MESH:C537884] (465)
Aortic Aneurysm, Familial Thoracic 6 [MESH:C567085] (221)
Basal Laminar Drusen [MESH:C563034] (52)
Aortic Aneurysm, Familial Thoracic 6 [MESH:C567085] (221)
Hypochondroplasia [MESH:C562937] (66)
Basal Laminar Drusen [MESH:C563034] (52)
Basal Laminar Drusen [MESH:C563034] (52)
5q- syndrome [MESH:C535323] (131)
Mandibuloacral dysplasia with type A lipodystrophy [MESH:C535705] (490)
Single upper central incisor [MESH:C537342] (50)
C01. Bacterial Infections and Mycoses
C01. Bacterial Infections and Mycoses
Brain Abscess [MESH:D001922] (15)
Bacteremia [MESH:D016470] (208)
Brain Abscess [MESH:D001922] (12)
Epidural Abscess [MESH:D020802] (9)
Meningitis, Listeria [MESH:D008584] (4)
Meningitis, Pneumococcal [MESH:D008586] (13)
Endocarditis, Subacute Bacterial [MESH:D004698] (7)
Helicobacter Infections [MESH:D016481] (579)
Pasteurellaceae Infections [MESH:D016871] (348)
Pseudomonas Infections [MESH:D011552] (42)
Meningococcal Infections [MESH:D008589] (242)
Mycobacterium Infections, Nontuberculous [MESH:D009165] (480)
Paratuberculosis [MESH:D010283] (427)
Enterocolitis, Pseudomembranous [MESH:D004761] (7)
Meningitis, Listeria [MESH:D008584] (4)
Pneumonia, Staphylococcal [MESH:D011023] (10)
Staphylococcal Skin Infections [MESH:D013207] (15)
Endocarditis, Subacute Bacterial [MESH:D004698] (7)
Meningitis, Pneumococcal [MESH:D008586] (13)
Pneumonia, Pneumococcal [MESH:D011018] (31)
Pneumonia, Pneumococcal [MESH:D011018] (31)
Pneumonia, Staphylococcal [MESH:D011023] (10)
Hidradenitis Suppurativa [MESH:D017497] (120)
Staphylococcal Skin Infections [MESH:D013207] (15)
Community-Acquired Infections [MESH:D017714] (22)
Cross Infection [MESH:D003428] (8)
Pregnancy Complications, Infectious [MESH:D011251] (17)
Urinary Tract Infections [MESH:D014552] (984)
Osteomyelitis [MESH:D010019] (69)
Discitis [MESH:D015299] (11)
Endocarditis, Subacute Bacterial [MESH:D004698] (7)
Endophthalmitis [MESH:D009877] (15)
Appendicitis [MESH:D001064] (774)
Peritonitis [MESH:D010538] (800)
Shock, Septic [MESH:D012772] (1830)
Endotoxemia [MESH:D019446] (1289)
Cellulitis [MESH:D002481] (87)
Candidiasis, Chronic Mucocutaneous [MESH:D002178] (224)
Hidradenitis Suppurativa [MESH:D017497] (120)
Staphylococcal Skin Infections [MESH:D013207] (15)
Cellulitis [MESH:D002481] (87)
Hidradenitis Suppurativa [MESH:D017497] (120)
Pyomyositis [MESH:D052880] (11)
Brain Abscess [MESH:D001922] (15)
Epidural Abscess [MESH:D020802] (9)
Psoas Abscess [MESH:D016659] (3)
Endotoxemia [MESH:D019446] (1289)
Candidiasis, Chronic Mucocutaneous [MESH:D002178] (224)
Candidiasis, Chronic Mucocutaneous [MESH:D002178] (224)
C02. Virus Diseases
C02. Virus Diseases
Poliomyelitis [MESH:D011051] (54)
Encephalitis, Herpes Simplex [MESH:D020803] (72)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy [MESH:C536329] (61)
Poliomyelitis [MESH:D011051] (56)
Hepatitis B [MESH:D006509] (976)
Cytomegalovirus Infections [MESH:D003586] (222)
Encephalitis, Herpes Simplex [MESH:D020803] (72)
Encephalitis, Herpes Simplex [MESH:D020803] (72)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy [MESH:C536329] (61)
Hepatitis B [MESH:D006509] (976)
Hepatitis C [MESH:D006526] (1627)
Hepatitis C [MESH:D006526] (1627)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy [MESH:C536329] (61)
Respiratory Syncytial Virus Infections [MESH:D018357] (852)
Influenza, Human [MESH:D007251] (1075)
Coxsackievirus Infections [MESH:D003384] (194)
Poliomyelitis [MESH:D011051] (56)
HIV-Associated Lipodystrophy Syndrome [MESH:D039682] (91)
HIV-Associated Lipodystrophy Syndrome [MESH:D039682] (91)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy [MESH:C536329] (61)
C03. Parasitic Diseases
C03. Parasitic Diseases
Malaria [MESH:D008288] (2175)
Entamoebiasis [MESH:D004749] (1689)
Leishmaniasis, Cutaneous [MESH:D016773] (2359)
Leishmaniasis, Visceral [MESH:D007898] (2149)
Leishmaniasis, Cutaneous [MESH:D016773] (2359)
C04. Neoplasms
C04. Neoplasms
Precancerous Conditions [MESH:D011230] (2858)
Polycystic Ovary Syndrome [MESH:D011085] (2186)
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)
Leukemia, Myelomonocytic, Acute [MESH:D015479] (85)
Leukemia, Myelomonocytic, Juvenile [MESH:D054429] (344)
Leukemia, Promyelocytic, Acute [MESH:D015473] (1367)
Lymphoma, Large-Cell, Anaplastic [MESH:D017728] (420)
Lymphoma, Mantle-Cell [MESH:D020522] (561)
Lymphoma, Large B-Cell, Diffuse [MESH:D016403] (2012)
Lymphoma, Large-Cell, Anaplastic [MESH:D017728] (420)
Carcinosarcoma [MESH:D002296] (581)
Hepatoblastoma [MESH:D018197] (548)
Wilms Tumor [MESH:D009396] (553)
Sarcoma, Synovial [MESH:D013584] (993)
Mastocytosis, Systemic [MESH:D034721] (769)
Cardiac valvular dysplasia, X-linked [MESH:C535576] (36)
Osteosarcoma [MESH:D012516] (2175)
Neurofibrosarcoma [MESH:D018319] (44)
Leiomyoma [MESH:D007889] (744)
Leiomyosarcoma [MESH:D007890] (977)
Rhabdomyosarcoma, Embryonal [MESH:D018233] (98)
Carcinosarcoma [MESH:D002296] (581)
Hemangiosarcoma [MESH:D006394] (1836)
Leiomyosarcoma [MESH:D007890] (977)
Osteosarcoma [MESH:D012516] (2175)
Sarcoma, Synovial [MESH:D013584] (993)
Neurofibrosarcoma [MESH:D018319] (44)
Rhabdomyosarcoma, Embryonal [MESH:D018233] (98)
Seminoma [MESH:D018239] (195)
Gliosarcoma [MESH:D018316] (880)
Medulloblastoma [MESH:D008527] (1282)
Glioblastoma [MESH:D005909] (2554)
Medulloblastoma [MESH:D008527] (1282)
Neuroblastoma [MESH:D009447] (1420)
Melanoma [MESH:D008545] (3508)
Carcinoma, Medullary [MESH:D018276] (181)
Ovarian epithelial cancer [MESH:C538090] (57)
Adenoma, Liver Cell [MESH:D018248] (685)
Adenoma, Oxyphilic [MESH:D018249] (115)
Mesothelioma [MESH:D008654] (2567)
Adenomatous Polyposis Coli [MESH:D011125] (1565)
Carcinoma, Large Cell [MESH:D018287] (211)
Carcinoma, Small Cell [MESH:D018288] (1317)
Carcinoma, Transitional Cell [MESH:D002295] (2662)
Adenocarcinoma of lung [MESH:C538231] (1487)
Carcinoma, Adenoid Cystic [MESH:D003528] (1561)
Carcinoma, Hepatocellular [MESH:D006528] (5375)
Carcinoma, Renal Cell [MESH:D002292] (2975)
Thyroid cancer, follicular [MESH:C572845] (674)
Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)
Carcinoma, Medullary [MESH:D018276] (181)
Prostatic Intraepithelial Neoplasia [MESH:D019048] (1565)
Carcinoma, squamous cell of head and neck [MESH:C535575] (1543)
Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)
Bowen's Disease [MESH:D001913] (247)
Carcinoma, Medullary [MESH:D018276] (181)
Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)
Mesothelioma [MESH:D008654] (2567)
Gliosarcoma [MESH:D018316] (880)
Medulloblastoma [MESH:D008527] (1282)
Glioblastoma [MESH:D005909] (2554)
Medulloblastoma [MESH:D008527] (1282)
Neuroblastoma [MESH:D009447] (1420)
Papilloma [MESH:D010212] (2243)
Carcinoma, squamous cell of head and neck [MESH:C535575] (1543)
Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)
Bowen's Disease [MESH:D001913] (247)
Meningioma [MESH:D008579] (978)
Neurofibrosarcoma [MESH:D018319] (44)
Neurofibrosarcoma [MESH:D018319] (44)
Gliosarcoma [MESH:D018316] (880)
Medulloblastoma [MESH:D008527] (1282)
Glioblastoma [MESH:D005909] (2554)
Medulloblastoma [MESH:D008527] (1282)
Neuroblastoma [MESH:D009447] (1420)
Melanoma [MESH:D008545] (3508)
Carcinoma, Medullary [MESH:D018276] (181)
Multiple Myeloma [MESH:D009101] (2767)
Hemangiosarcoma [MESH:D006394] (1836)
Meningioma [MESH:D008579] (978)
Melanoma [MESH:D008545] (3508)
Nevus, Epidermal [MESH:C562736] (112)
Bone Neoplasms [MESH:D001859] (1334)
Breast Neoplasms, Male [MESH:D018567] (650)
Stomach Neoplasms [MESH:D013274] (4942)
Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)
Adenomatous Polyposis Coli [MESH:D011125] (1565)
Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258)
Rectal Neoplasms [MESH:D012004] (717)
Adenomatous Polyposis Coli [MESH:D011125] (1565)
Adenoma, Liver Cell [MESH:D018248] (685)
Carcinoma, Hepatocellular [MESH:D006528] (5375)
Liver Neoplasms, Experimental [MESH:D008114] (2837)
Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)
Testicular Neoplasms [MESH:D013736] (520)
Ovarian epithelial cancer [MESH:C538090] (57)
Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)
Thyroid cancer, anaplastic [MESH:C536910] (489)
Carcinoma, squamous cell of head and neck [MESH:C535575] (1543)
Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)
Salivary Gland Neoplasms [MESH:D012468] (968)
Tongue Neoplasms [MESH:D014062] (1518)
Nasopharyngeal carcinoma [MESH:C538339] (1198)
Thyroid cancer, anaplastic [MESH:C536910] (489)
Mammary Neoplasms, Experimental [MESH:D008325] (3268)
Brain Neoplasms [MESH:D001932] (2764)
Meningioma [MESH:D008579] (978)
Nevus, Epidermal [MESH:C562736] (112)
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)
Uterine Cervical Neoplasms [MESH:D002583] (978)
Prostatic Neoplasms [MESH:D011471] (6135)
Testicular Neoplasms [MESH:D013736] (520)
Urinary Bladder Neoplasms [MESH:D001749] (4079)
Carcinoma, Renal Cell [MESH:D002292] (2975)
Wilms Tumor [MESH:D009396] (553)
Liver Neoplasms, Experimental [MESH:D008114] (2837)
Mammary Neoplasms, Experimental [MESH:D008325] (3268)
Neoplasm Invasiveness [MESH:D009361] (3388)
Neoplasm Recurrence, Local [MESH:D009364] (1949)
Cell Transformation, Neoplastic [MESH:D002471] (3389)
Lymphatic Metastasis [MESH:D008207] (917)
Adenomatous Polyposis Coli [MESH:D011125] (1565)
Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (260)
Wilms Tumor [MESH:D009396] (553)
C05. Musculoskeletal Diseases
C05. Musculoskeletal Diseases
Bone Diseases, Endocrine [MESH:D001849] (747)
Bone Neoplasms [MESH:D001859] (1334)
Osteoarthropathy, Primary Hypertrophic [MESH:D010004] (94)
Acromicric dysplasia [MESH:C535662] (520)
CATSHL syndrome [MESH:C537975] (66)
Weill-Marchesani Syndrome [MESH:D056846] (65)
Mandibuloacral dysplasia with type A lipodystrophy [MESH:C535705] (490)
Keratosis palmoplantaris with periodontopathia and onychogryposis [MESH:C537627] (73)
Dyggve-Melchior-Clausen syndrome [MESH:C535726] (19)
Hypochondroplasia [MESH:C562937] (66)
Weill-Marchesani Syndrome [MESH:D056846] (65)
Thanatophoric dysplasia, type 1 [MESH:C536507] (66)
Thanatophoric dysplasia, type 2 [MESH:C536508] (66)
Crouzon Syndrome With Acanthosis Nigricans [MESH:C567382] (66)
Multiple Synostoses Syndrome 3 [MESH:C567839] (60)
Shprintzen Golberg craniosynostosis [MESH:C537328] (76)
Muenke Syndrome [MESH:C537369] (66)
Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)
Shprintzen Golberg craniosynostosis [MESH:C537328] (76)
Dyggve-Melchior-Clausen syndrome [MESH:C535726] (19)
Oto-Palato-digital syndrome type 1 [MESH:C536065] (46)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy [MESH:C536329] (61)
Frontometaphyseal dysplasia [MESH:C538064] (36)
Oto-palato-digital syndrome, type 2 [MESH:C538089] (36)
Smith-McCort Dysplasia [MESH:C564589] (19)
Spondyloepimetaphyseal Dysplasia, Pakistani Type [MESH:C567551] (63)
Ellis-Van Creveld Syndrome [MESH:D004613] (50)
Fibrous Dysplasia of Bone [MESH:D005357] (737)
Thanatophoric dysplasia, type 1 [MESH:C536507] (66)
Thanatophoric dysplasia, type 2 [MESH:C536508] (66)
Tumoral Calcinosis, Hyperphosphatemic, Familial [MESH:C566870] (94)
Osteogenesis imperfecta, type 2A [MESH:C536042] (375)
Osteogenesis imperfecta, type 3 [MESH:C536044] (375)
Osteogenesis imperfecta, type 4 [MESH:C536045] (375)
Osteomyelitis [MESH:D010019] (69)
Discitis [MESH:D015299] (11)
Osteoporosis, Postmenopausal [MESH:D015663] (2351)
Vitamin D Hydroxylation-Deficient Rickets, Type 1A [MESH:C562688] (58)
Hypophosphatemic Rickets with Hypercalciuria, Hereditary [MESH:C562793] (17)
Alveolar Bone Loss [MESH:D016301] (220)
Mandibuloacral dysplasia with type A lipodystrophy [MESH:C535705] (490)
Keratosis palmoplantaris with periodontopathia and onychogryposis [MESH:C537627] (73)
Tumoral Calcinosis, Hyperphosphatemic, Familial [MESH:C566870] (94)
Intervertebral Disc Degeneration [MESH:D055959] (827)
Ossification of the posterior longitudinal ligament of the spine [MESH:C537143] (98)
Kyphosis [MESH:D007738] (637)
Hypochondroplasia [MESH:C562937] (66)
Discitis [MESH:D015299] (11)
Spondylitis, Ankylosing [MESH:D013167] (431)
Keutel syndrome [MESH:C536167] (102)
Foot Deformities, Congenital [MESH:D005532] (538)
Heart-hand syndrome, Slovenian type [MESH:C535852] (77)
Oto-Palato-digital syndrome type 1 [MESH:C536065] (46)
Keutel syndrome [MESH:C536167] (102)
Vohwinkel syndrome [MESH:C536457] (68)
CATSHL syndrome [MESH:C537975] (66)
Oto-palato-digital syndrome, type 2 [MESH:C538089] (36)
Cleft Palate [MESH:D002972] (1330)
Meier-Gorlin syndrome [MESH:C538012] (133)
Osteoarthropathy, Primary Hypertrophic [MESH:D010004] (94)
Spondylitis, Ankylosing [MESH:D013167] (431)
Arthritis, Experimental [MESH:D001169] (3142)
Arthritis, Rheumatoid [MESH:D001172] (3603)
Gout [MESH:D006073] (261)
Osteoarthritis [MESH:D010003] (1743)
Spondylitis, Ankylosing [MESH:D013167] (431)
Distal arthrogryposis type 2B [MESH:C538400] (85)
Cerebrooculofacioskeletal Syndrome 4 [MESH:C565184] (75)
Bethlem myopathy [MESH:C535436] (108)
Tight skin contracture syndrome, lethal [MESH:C536920] (84)
Stiff Skin Syndrome [MESH:C566112] (62)
Dimauro disease [MESH:C536176] (33)
Systemic carnitine deficiency [MESH:C536778] (92)
Compartment Syndromes [MESH:D003161] (80)
Muscle Rigidity [MESH:D009127] (617)
Distal arthrogryposis type 2B [MESH:C538400] (85)
Cerebrooculofacioskeletal Syndrome 4 [MESH:C565184] (75)
Bethlem myopathy [MESH:C535436] (108)
Tight skin contracture syndrome, lethal [MESH:C536920] (84)
Stiff Skin Syndrome [MESH:C566112] (62)
Ophthalmoplegia, Chronic Progressive External [MESH:D017246] (1313)
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps [MESH:C567088] (77)
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of [MESH:C567006] (27)
Bethlem myopathy [MESH:C535436] (108)
Scleroatonic muscular dystrophy [MESH:C537521] (108)
Muscular Dystrophy, Congenital, Lmna-Related [MESH:C567708] (77)
Glycogen Storage Disease Type VII [MESH:D006014] (37)
Muscular Dystrophy, Emery-Dreifuss [MESH:D020389] (169)
Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854)
Limb-girdle muscular dystrophy, type 1B [MESH:C535898] (77)
Epidermolysa bullosa simplex and limb girdle muscular dystrophy [MESH:C535955] (34)
Nemaline myopathy 1 [MESH:C538348] (69)
Nemaline myopathy 4 [MESH:C538351] (47)
Polymyositis [MESH:D017285] (2007)
Pyomyositis [MESH:D052880] (11)
Myoglobinuria, Acute Recurrent, Autosomal Recessive [MESH:C564832] (64)
Distal arthrogryposis type 2B [MESH:C538400] (85)
Cerebrooculofacioskeletal Syndrome 4 [MESH:C565184] (75)
Oto-Palato-digital syndrome type 1 [MESH:C536065] (46)
Oto-palato-digital syndrome, type 2 [MESH:C538089] (36)
Cerebrooculofacioskeletal Syndrome 4 [MESH:C565184] (75)
Crouzon Syndrome With Acanthosis Nigricans [MESH:C567382] (66)
Shprintzen Golberg craniosynostosis [MESH:C537328] (76)
Muenke Syndrome [MESH:C537369] (66)
Holoprosencephaly 4 [MESH:C564180] (70)
Holoprosencephaly 3 [MESH:C564181] (50)
Aortic aneurysm, familial thoracic 3 [MESH:C537783] (107)
Loeys-Dietz Syndrome, Type 1b [MESH:C567181] (107)
Cleft Palate [MESH:D002972] (1330)
Meier-Gorlin syndrome [MESH:C538012] (133)
Noonan Syndrome 6 [MESH:C548084] (44)
Shprintzen Golberg craniosynostosis [MESH:C537328] (76)
Muenke Syndrome [MESH:C537369] (66)
Acromicric dysplasia [MESH:C535662] (520)
Weyers acrofacial dysostosis [MESH:C536695] (11)
Hypochondroplasia [MESH:C562937] (66)
Shprintzen Golberg craniosynostosis [MESH:C537328] (76)
Foot Deformities, Congenital [MESH:D005532] (538)
Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)
Thanatophoric dysplasia, type 1 [MESH:C536507] (66)
Thanatophoric dysplasia, type 2 [MESH:C536508] (66)
Heart-hand syndrome, Slovenian type [MESH:C535852] (77)
Oto-Palato-digital syndrome type 1 [MESH:C536065] (46)
Keutel syndrome [MESH:C536167] (102)
Vohwinkel syndrome [MESH:C536457] (68)
CATSHL syndrome [MESH:C537975] (66)
Oto-palato-digital syndrome, type 2 [MESH:C538089] (36)
Multiple Synostoses Syndrome 3 [MESH:C567839] (60)
Shprintzen Golberg craniosynostosis [MESH:C537328] (76)
Muenke Syndrome [MESH:C537369] (66)
Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)
Arthritis, Rheumatoid [MESH:D001172] (3603)
Gout [MESH:D006073] (261)
Osteoarthritis [MESH:D010003] (1743)
C06. Digestive System Diseases
C06. Digestive System Diseases
Bile acid synthesis defect, congenital, 2 [MESH:C535443] (51)
Bile acid synthesis defect, congenital, 4 [MESH:C535444] (45)
Liver Cirrhosis, Biliary [MESH:D008105] (1274)
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78)
Opitz-Kaveggia syndrome [MESH:C537923] (64)
Stomach Neoplasms [MESH:D013274] (4942)
Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)
Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258)
Rectal Neoplasms [MESH:D012004] (717)
Adenomatous Polyposis Coli [MESH:D011125] (1565)
Adenoma, Liver Cell [MESH:D018248] (685)
Carcinoma, Hepatocellular [MESH:D006528] (5375)
Liver Neoplasms, Experimental [MESH:D008114] (2837)
Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)
Gastrointestinal Hemorrhage [MESH:D006471] (815)
Esophageal Stenosis [MESH:D004940] (490)
Esophagitis [MESH:D004941] (1120)
Gastroesophageal Reflux [MESH:D005764] (1465)
Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)
Appendicitis [MESH:D001064] (774)
Esophagitis [MESH:D004941] (1120)
Mucositis [MESH:D052016] (1238)
Colitis, Ulcerative [MESH:D003093] (2601)
Enterocolitis, Necrotizing [MESH:D020345] (1367)
Enterocolitis, Pseudomembranous [MESH:D004761] (7)
Colitis, Ulcerative [MESH:D003093] (2601)
Crohn Disease [MESH:D003424] (2585)
Stomach Neoplasms [MESH:D013274] (4942)
Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)
Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258)
Rectal Neoplasms [MESH:D012004] (717)
Adenomatous Polyposis Coli [MESH:D011125] (1565)
Appendicitis [MESH:D001064] (774)
Megacolon [MESH:D008531] (386)
Colitis, Ulcerative [MESH:D003093] (2601)
Irritable Bowel Syndrome [MESH:D043183] (429)
Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258)
Adenomatous Polyposis Coli [MESH:D011125] (1565)
Duodenal Ulcer [MESH:D004381] (1549)
Enterocolitis, Necrotizing [MESH:D020345] (1367)
Enterocolitis, Pseudomembranous [MESH:D004761] (7)
Colitis, Ulcerative [MESH:D003093] (2601)
Crohn Disease [MESH:D003424] (2585)
Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258)
Rectal Neoplasms [MESH:D012004] (717)
Adenomatous Polyposis Coli [MESH:D011125] (1565)
Congenital idiopathic intestinal pseudoobstruction [MESH:C535532] (36)
Adenomatous Polyposis Coli [MESH:D011125] (1565)
Celiac Disease [MESH:D002446] (340)
Rectal Neoplasms [MESH:D012004] (717)
Duodenal Ulcer [MESH:D004381] (1549)
Stomach Ulcer [MESH:D013276] (2915)
Gastroparesis [MESH:D018589] (732)
Stomach Neoplasms [MESH:D013274] (4942)
Stomach Ulcer [MESH:D013276] (2915)
Phosphoenolpyruvate carboxykinase deficiency [MESH:C536654] (135)
Glycogen Storage Disease 0, Liver [MESH:C565485] (45)
Drug-Induced Liver Injury [MESH:D056486] (4936)
Hepatic Veno-Occlusive Disease [MESH:D006504] (208)
Hepatolenticular Degeneration [MESH:D006527] (473)
Hepatomegaly [MESH:D006529] (1169)
Hepatorenal Syndrome [MESH:D006530] (910)
Hypertension, Portal [MESH:D006975] (869)
Bile acid synthesis defect, congenital, 4 [MESH:C535444] (45)
Liver Cirrhosis, Biliary [MESH:D008105] (1274)
Non-alcoholic Fatty Liver Disease [MESH:C541083] (1567)
Fatty Liver, Alcoholic [MESH:D005235] (657)
Hepatic Encephalopathy [MESH:D006501] (1795)
Liver Failure, Acute [MESH:D017114] (2404)
Hepatitis, Animal [MESH:D006520] (260)
Hepatitis, Autoimmune [MESH:D019693] (1982)
Hepatitis B [MESH:D006509] (976)
Hepatitis C [MESH:D006526] (1627)
Cirrhosis, Familial [MESH:C566123] (179)
Liver Cirrhosis, Alcoholic [MESH:D008104] (3066)
Liver Cirrhosis, Biliary [MESH:D008105] (1274)
Liver Cirrhosis, Experimental [MESH:D008106] (4589)
Fatty Liver, Alcoholic [MESH:D005235] (657)
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)
Pancreatitis [MESH:D010195] (1924)
Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)
Peritonitis [MESH:D010538] (800)
C07. Stomatognathic Diseases
C07. Stomatognathic Diseases
External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation [MESH:C566509] (71)
PCI 5002 [MESH:C568608] (527)
Meier-Gorlin syndrome [MESH:C538012] (133)
Behcet Syndrome [MESH:D001528] (1784)
Mucositis [MESH:D052016] (1238)
Oral Submucous Fibrosis [MESH:D009914] (2432)
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)
Poikiloderma of Kindler [MESH:C536321] (64)
Gingival Hyperplasia [MESH:D005885] (161)
Alveolar Bone Loss [MESH:D016301] (220)
Periodontitis, Aggressive, 2 [MESH:C566946] (310)
Aggressive Periodontitis [MESH:D010520] (74)
Chronic Periodontitis [MESH:D055113] (231)
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia [MESH:C566352] (437)
Orstavik Lindemann Solberg syndrome [MESH:C537137] (668)
Nasopharyngeal carcinoma [MESH:C538339] (1198)
Nasopharyngeal carcinoma [MESH:C538339] (1198)
External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation [MESH:C566509] (71)
Opitz GBBB Syndrome, X-Linked [MESH:C567932] (535)
Meier-Gorlin syndrome [MESH:C538012] (133)
Orofacial Cleft 12 [MESH:C567548] (434)
Opitz GBBB Syndrome, X-Linked [MESH:C567932] (535)
Weyers acrofacial dysostosis [MESH:C536695] (11)
Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)
Single upper central incisor [MESH:C537342] (50)
Weyers acrofacial dysostosis [MESH:C536695] (11)
Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)
Single upper central incisor [MESH:C537342] (50)
C08. Respiratory Tract Diseases
C08. Respiratory Tract Diseases
Granuloma, Respiratory Tract [MESH:D015769] (502)
Asthma [MESH:D001249] (4098)
Bronchial Hyperreactivity [MESH:D016535] (1357)
Bronchial Spasm [MESH:D001986] (57)
Bronchiectasis [MESH:D001987] (1792)
Bronchopneumonia [MESH:D001996] (16)
Bronchitis, Chronic [MESH:D029481] (569)
Cystic Fibrosis [MESH:D003550] (760)
Hypertension, Pulmonary [MESH:D006976] (2000)
Pulmonary Edema [MESH:D011654] (2109)
Pulmonary Embolism [MESH:D011655] (1118)
Pulmonary Fibrosis [MESH:D011658] (3140)
Respiratory Distress Syndrome, Adult [MESH:D012128] (864)
Alveolitis, Extrinsic Allergic [MESH:D000542] (496)
Asthma [MESH:D001249] (3903)
Bronchitis, Chronic [MESH:D029481] (569)
Bronchitis, Chronic [MESH:D029481] (569)
Pulmonary Emphysema [MESH:D011656] (1259)
Acute Lung Injury [MESH:D055371] (1907)
Adenocarcinoma of lung [MESH:C538231] (1487)
Carcinoma, Non-Small-Cell Lung [MESH:D002289] (3540)
Small Cell Lung Carcinoma [MESH:D055752] (1380)
Bronchopneumonia [MESH:D001996] (16)
Pneumonia, Pneumococcal [MESH:D011018] (31)
Pneumonia, Staphylococcal [MESH:D011023] (10)
Surfactant Metabolism Dysfunction, Pulmonary, 4 [MESH:C567461] (30)
Nasal Obstruction [MESH:D015508] (132)
Rhinitis [MESH:D012220] (1134)
Pleurisy [MESH:D010998] (2070)
Respiratory Distress Syndrome, Adult [MESH:D012128] (864)
Nasal Obstruction [MESH:D015508] (132)
Ige Responsiveness, Atopic [MESH:C564133] (267)
Alveolitis, Extrinsic Allergic [MESH:D000542] (495)
Asthma [MESH:D001249] (4098)
Influenza, Human [MESH:D007251] (1075)
Pleurisy [MESH:D010998] (2070)
Rhinitis [MESH:D012220] (766)
Bronchitis, Chronic [MESH:D029481] (569)
Bronchopneumonia [MESH:D001996] (16)
Pneumonia, Pneumococcal [MESH:D011018] (31)
Pneumonia, Staphylococcal [MESH:D011023] (10)
Adenocarcinoma of lung [MESH:C538231] (1487)
Carcinoma, Non-Small-Cell Lung [MESH:D002289] (3540)
Small Cell Lung Carcinoma [MESH:D055752] (1380)
C09. Otorhinolaryngologic Diseases
C09. Otorhinolaryngologic Diseases
Tinnitus [MESH:D014012] (109)
CATSHL syndrome [MESH:C537975] (66)
Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)
Deafness [MESH:D003638] (623)
Hearing Loss, Bilateral [MESH:D006312] (55)
Hearing Loss, High-Frequency [MESH:D006316] (11)
Hearing Loss, Unilateral [MESH:D046088] (9)
MYH9-Related Disorders [MESH:C535507] (46)
Keratoderma palmoplantar deafness [MESH:C536152] (68)
Vohwinkel syndrome [MESH:C536457] (68)
Pendred syndrome [MESH:C536648] (35)
Knuckle pads, leuconychia and sensorineural deafness [MESH:C537210] (68)
Macrothrombocytopenia progressive deafness [MESH:C537831] (46)
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness [MESH:C562897] (11)
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness [MESH:C563798] (43)
Deafness, Autosomal Recessive 35 [MESH:C563908] (17)
Bartter Syndrome, Type 4A [MESH:C566530] (27)
Deafness, Autosomal Recessive 1A [MESH:C567134] (88)
Deafness, Autosomal Dominant 3A [MESH:C567277] (77)
Vertigo [MESH:D014717] (97)
Nasal Obstruction [MESH:D015508] (132)
Rhinitis [MESH:D012220] (1134)
Nasopharyngeal carcinoma [MESH:C538339] (1198)
Nasopharyngeal carcinoma [MESH:C538339] (1198)
Nasopharyngeal carcinoma [MESH:C538339] (1198)
C10. Nervous System Diseases
C10. Nervous System Diseases
Not Fully Specified [NFS] (4027)
Restless Legs Syndrome [MESH:D012148] (379)
Aicardi-Goutieres syndrome [MESH:C535607] (57)
Aicardi-Goutieres syndrome 5 [MESH:C535608] (22)
Multiple Sclerosis [MESH:D009103] (1716)
Encephalomyelitis, Autoimmune, Experimental [MESH:D004681] (806)
Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172)
Familial porencephaly [MESH:C536850] (77)
Beta-Ureidopropionase Deficiency [MESH:C563210] (35)
Brain Abscess [MESH:D001922] (15)
Brain Injuries [MESH:D001930] (3429)
Brain Neoplasms [MESH:D001932] (2764)
Hypoxia, Brain [MESH:D002534] (134)
Idiopathic basal ganglia calcification 1 [MESH:C536275] (139)
Hepatolenticular Degeneration [MESH:D006527] (473)
Huntington Disease [MESH:D006816] (540)
Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31)
Striatonigral degeneration infantile [MESH:C537500] (22)
Lewy Body Disease [MESH:D020961] (1143)
Parkinson Disease, Secondary [MESH:D010302] (327)
Progressive supranuclear palsy atypical [MESH:C537240] (142)
Parkinson Disease 6, Autosomal Recessive Early-Onset [MESH:C565276] (42)
Progressive supranuclear palsy atypical [MESH:C537240] (142)
Glutaric aciduria 1 [MESH:C536833] (26)
Hepatic Encephalopathy [MESH:D006501] (1795)
Homocarnosinosis [MESH:C535328] (8)
Hartnup Disease [MESH:D006250] (15)
Hepatolenticular Degeneration [MESH:D006527] (473)
Homocystinuria [MESH:D006712] (93)
Hyperglycinemia, Nonketotic [MESH:D020158] (67)
Leigh Disease [MESH:D007888] (206)
Maple Syrup Urine Disease [MESH:D008375] (127)
Phenylketonurias [MESH:D010661] (156)
Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)
Vasculopathy, Retinal, With Cerebral Leukodystrophy [MESH:C566007] (37)
Adrenoleukodystrophy [MESH:D000326] (1348)
Canavan Disease [MESH:D017825] (29)
Saccharopinuria [MESH:C537218] (36)
Tay-Sachs Disease, AB Variant [MESH:D049290] (46)
Bile acid synthesis defect, congenital, 4 [MESH:C535444] (45)
Adrenoleukodystrophy [MESH:D000326] (1348)
Hawkinsinuria [MESH:C535845] (34)
3-methylcrotonyl CoA carboxylase 1 deficiency [MESH:C535308] (24)
3-methylcrotonyl CoA carboxylase 2 deficiency [MESH:C535309] (32)
HHH syndrome [MESH:C538380] (29)
Argininosuccinic Aciduria [MESH:D056807] (50)
Citrullinemia [MESH:D020159] (99)
Dysequilibrium syndrome [MESH:C535731] (83)
Spinocerebellar Ataxia, Autosomal Recessive 9 [MESH:C567436] (49)
Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31)
Spinocerebellar Ataxia, Autosomal Recessive 9 [MESH:C567436] (49)
Carotid Artery Diseases [MESH:D002340] (1993)
Vasospasm, Intracranial [MESH:D020301] (324)
Ischemic Attack, Transient [MESH:D002546] (1313)
Infarction, Middle Cerebral Artery [MESH:D020244] (2268)
Infarction, Middle Cerebral Artery [MESH:D020244] (2268)
Cavernous Sinus Thrombosis [MESH:D020226] (7)
Sagittal Sinus Thrombosis [MESH:D020225] (223)
Cerebral Hemorrhage [MESH:D002543] (2873)
Infarction, Middle Cerebral Artery [MESH:D020244] (2268)
Alzheimer Disease [MESH:D000544] (4275)
Huntington Disease [MESH:D006816] (540)
Lewy Body Disease [MESH:D020961] (1143)
Pick Disease of the Brain [MESH:D020774] (184)
Meningoencephalitis [MESH:D008590] (179)
Pyridoxine-dependent epilepsy [MESH:C536254] (53)
Seizures [MESH:D012640] (4502)
Status Epilepticus [MESH:D013226] (4014)
Unverricht-Lundborg Syndrome [MESH:D020194] (65)
Epilepsy, Temporal Lobe [MESH:D004833] (1108)
Epilepsy, Nocturnal Frontal Lobe, Type 1 [MESH:C563930] (118)
Epilepsy, Absence [MESH:D004832] (222)
Spasms, Infantile [MESH:D013036] (468)
Migraine Disorders [MESH:D008881] (2318)
Brain Small Vessel Disease with Hemorrhage [MESH:C564372] (77)
Encephalomyelitis, Autoimmune, Experimental [MESH:D004681] (806)
Vasculopathy, Retinal, With Cerebral Leukodystrophy [MESH:C566007] (37)
Adrenoleukodystrophy [MESH:D000326] (1348)
Canavan Disease [MESH:D017825] (29)
Brain Abscess [MESH:D001922] (15)
Epidural Abscess [MESH:D020802] (9)
Meningoencephalitis [MESH:D008590] (207)
Brain Abscess [MESH:D001922] (12)
Epidural Abscess [MESH:D020802] (9)
Meningitis, Listeria [MESH:D008584] (4)
Meningitis, Pneumococcal [MESH:D008586] (13)
Poliomyelitis [MESH:D011051] (56)
Encephalitis, Herpes Simplex [MESH:D020803] (72)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy [MESH:C536329] (61)
Poliomyelitis [MESH:D011051] (54)
Meningoencephalitis [MESH:D008590] (179)
Encephalitis, Herpes Simplex [MESH:D020803] (72)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy [MESH:C536329] (61)
Meningoencephalitis [MESH:D008590] (179)
Meningitis, Listeria [MESH:D008584] (4)
Meningitis, Pneumococcal [MESH:D008586] (13)
Poliomyelitis [MESH:D011051] (54)
Epidural Abscess [MESH:D020802] (9)
Meningoencephalitis [MESH:D008590] (179)
Guanidinoacetate methyltransferase deficiency [MESH:C537622] (60)
Beta-Ureidopropionase Deficiency [MESH:C563210] (35)
Angelman Syndrome [MESH:D017204] (124)
Hepatolenticular Degeneration [MESH:D006527] (473)
Dyskinesia, Drug-Induced [MESH:D004409] (1389)
Huntington Disease [MESH:D006816] (540)
Juvenile-onset dystonia [MESH:C537704] (143)
Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31)
Striatonigral degeneration infantile [MESH:C537500] (22)
Lewy Body Disease [MESH:D020961] (1143)
Parkinson Disease, Secondary [MESH:D010302] (327)
Progressive supranuclear palsy atypical [MESH:C537240] (142)
Parkinson Disease 6, Autosomal Recessive Early-Onset [MESH:C565276] (42)
Progressive supranuclear palsy atypical [MESH:C537240] (142)
Epidural Abscess [MESH:D020802] (9)
Poliomyelitis [MESH:D011051] (55)
Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559)
Neuronopathy, Distal Hereditary Motor, Type IIB [MESH:C567084] (219)
Bulbospinal neuronopathy, X-linked recessive [MESH:C537017] (565)
Poliomyelitis [MESH:D011051] (54)
Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31)
Spinocerebellar Ataxia, Autosomal Recessive 9 [MESH:C567436] (49)
Ophthalmoplegia, Chronic Progressive External [MESH:D017246] (1313)
Ophthalmoplegia, Chronic Progressive External [MESH:D017246] (1311)
Progressive supranuclear palsy atypical [MESH:C537240] (142)
Encephalomyelitis, Autoimmune, Experimental [MESH:D004681] (806)
Multiple Sclerosis [MESH:D009103] (1716)
Vasculopathy, Retinal, With Cerebral Leukodystrophy [MESH:C566007] (37)
Adrenoleukodystrophy [MESH:D000326] (1348)
Canavan Disease [MESH:D017825] (29)
Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172)
Aicardi-Goutieres syndrome [MESH:C535607] (57)
Aicardi-Goutieres syndrome 5 [MESH:C535608] (22)
Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172)
Opitz-Kaveggia syndrome [MESH:C537923] (64)
Holoprosencephaly 4 [MESH:C564180] (70)
Holoprosencephaly 3 [MESH:C564181] (50)
Charcot-Marie-Tooth disease, Type 2F [MESH:C535413] (219)
Charcot-Marie-Tooth disease, X-linked, 1 [MESH:C535919] (72)
Charcot-Marie-Tooth disease, Type 1C [MESH:C537984] (69)
Charcot-Marie-Tooth disease, Type 2B1 [MESH:C537990] (77)
Lissencephaly [MESH:D054082] (218)
Heterotopia, Periventricular, Ehlers-Danlos Variant [MESH:C564492] (36)
Meningomyelocele [MESH:D008591] (100)
Neural tube defect, folate-sensitive [MESH:C536409] (111)
Knobloch syndrome [MESH:C537209] (70)
Brain Neoplasms [MESH:D001932] (2764)
Meningioma [MESH:D008579] (978)
Neurofibrosarcoma [MESH:D018319] (44)
Familial apoceruloplasmin deficiency [MESH:C536004] (211)
Idiopathic basal ganglia calcification 1 [MESH:C536275] (139)
Lewy Body Disease [MESH:D020961] (1143)
Canavan Disease [MESH:D017825] (29)
Hepatolenticular Degeneration [MESH:D006527] (473)
Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172)
Huntington Disease [MESH:D006816] (540)
Unverricht-Lundborg Syndrome [MESH:D020194] (65)
Amyloidosis, Hereditary, Transthyretin-Related [MESH:C567782] (136)
Bulbospinal neuronopathy, X-linked recessive [MESH:C537017] (565)
Vasculopathy, Retinal, With Cerebral Leukodystrophy [MESH:C566007] (37)
Charcot-Marie-Tooth disease, Type 2F [MESH:C535413] (219)
Charcot-Marie-Tooth disease, X-linked, 1 [MESH:C535919] (72)
Charcot-Marie-Tooth disease, Type 1C [MESH:C537984] (69)
Charcot-Marie-Tooth disease, Type 2B1 [MESH:C537990] (77)
Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)
Ceroid Lipofuscinosis, Neuronal, 10 [MESH:C566438] (159)
Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31)
Spinocerebellar Ataxia, Autosomal Recessive 9 [MESH:C567436] (49)
Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559)
Neuronopathy, Distal Hereditary Motor, Type IIB [MESH:C567084] (219)
Bulbospinal neuronopathy, X-linked recessive [MESH:C537017] (565)
Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31)
Striatonigral degeneration infantile [MESH:C537500] (22)
Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31)
Progressive supranuclear palsy atypical [MESH:C537240] (142)
Parkinson Disease 6, Autosomal Recessive Early-Onset [MESH:C565276] (42)
Alzheimer Disease [MESH:D000544] (4275)
Progressive supranuclear palsy atypical [MESH:C537240] (142)
Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559)
Frontotemporal Dementia [MESH:D057180] (298)
Reflex, Abnormal [MESH:D012021] (485)
Seizures [MESH:D012640] (4514)
Vertigo [MESH:D014717] (97)
Catalepsy [MESH:D002375] (1429)
Dystonia [MESH:D004421] (848)
Hyperkinesis [MESH:D006948] (1799)
Dysequilibrium syndrome [MESH:C535731] (83)
Spinocerebellar Ataxia, Autosomal Recessive 9 [MESH:C567436] (49)
Lethargy [MESH:D053609] (1035)
Memory Disorders [MESH:D008569] (3233)
Psychomotor Disorders [MESH:D011596] (576)
Learning Disorders [MESH:D007859] (2727)
Guanidinoacetate methyltransferase deficiency [MESH:C537622] (60)
Arginine:Glycine Amidinotransferase Deficiency [MESH:C567192] (66)
Dyggve-Melchior-Clausen syndrome [MESH:C535726] (19)
Dysequilibrium syndrome [MESH:C535731] (83)
Cerebrooculofacioskeletal Syndrome 4 [MESH:C565184] (75)
Mental Retardation, Autosomal Recessive 1 [MESH:C565406] (19)
Arginine:Glycine Amidinotransferase Deficiency [MESH:C567192] (66)
Snyder Robinson syndrome [MESH:C536678] (19)
Opitz-Kaveggia syndrome [MESH:C537923] (64)
Mental Retardation, X-Linked 63 [MESH:C564522] (64)
Mental Retardation, X-Linked 1 [MESH:C567906] (4)
Adrenoleukodystrophy [MESH:D000326] (1348)
Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)
Muscular Atrophy [MESH:D009133] (1234)
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps [MESH:C567088] (77)
Muscle Rigidity [MESH:D009127] (617)
Opitz-Kaveggia syndrome [MESH:C537923] (64)
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of [MESH:C567006] (27)
Low Back Pain [MESH:D017116] (244)
Familial porencephaly [MESH:C536850] (77)
Ophthalmoplegia, Chronic Progressive External [MESH:D017246] (1311)
Progressive supranuclear palsy atypical [MESH:C537240] (142)
Dizziness [MESH:D004244] (289)
Tinnitus [MESH:D014012] (109)
CATSHL syndrome [MESH:C537975] (66)
Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)
Deafness [MESH:D003638] (623)
Hearing Loss, Bilateral [MESH:D006312] (55)
Hearing Loss, High-Frequency [MESH:D006316] (11)
Hearing Loss, Unilateral [MESH:D046088] (9)
MYH9-Related Disorders [MESH:C535507] (46)
Keratoderma palmoplantar deafness [MESH:C536152] (68)
Vohwinkel syndrome [MESH:C536457] (68)
Pendred syndrome [MESH:C536648] (35)
Knuckle pads, leuconychia and sensorineural deafness [MESH:C537210] (68)
Macrothrombocytopenia progressive deafness [MESH:C537831] (46)
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness [MESH:C562897] (11)
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness [MESH:C563798] (43)
Deafness, Autosomal Recessive 35 [MESH:C563908] (17)
Bartter Syndrome, Type 4A [MESH:C566530] (27)
Deafness, Autosomal Recessive 1A [MESH:C567134] (88)
Deafness, Autosomal Dominant 3A [MESH:C567277] (77)
Hyperalgesia [MESH:D006930] (3929)
Paresthesia [MESH:D010292] (416)
Blindness [MESH:D001766] (252)
Poliomyelitis [MESH:D011051] (55)
Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559)
Neuronopathy, Distal Hereditary Motor, Type IIB [MESH:C567084] (219)
Bulbospinal neuronopathy, X-linked recessive [MESH:C537017] (565)
Neuronopathy, Distal Hereditary Motor, Type IIB [MESH:C567084] (219)
Dimauro disease [MESH:C536176] (33)
Systemic carnitine deficiency [MESH:C536778] (92)
Bethlem myopathy [MESH:C535436] (108)
Scleroatonic muscular dystrophy [MESH:C537521] (108)
Muscular Dystrophy, Congenital, Lmna-Related [MESH:C567708] (77)
Muscular Dystrophy, Emery-Dreifuss [MESH:D020389] (169)
Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854)
Limb-girdle muscular dystrophy, type 1B [MESH:C535898] (77)
Epidermolysa bullosa simplex and limb girdle muscular dystrophy [MESH:C535955] (34)
Ophthalmoplegia, Chronic Progressive External [MESH:D017246] (1313)
Nemaline myopathy 1 [MESH:C538348] (69)
Nemaline myopathy 4 [MESH:C538351] (47)
Polymyositis [MESH:D017285] (2007)
Pyomyositis [MESH:D052880] (11)
Congenital myasthenic syndrome ib [MESH:C536089] (46)
Diabetic Neuropathies [MESH:D003929] (2442)
Amyloidosis, Hereditary, Transthyretin-Related [MESH:C567782] (136)
Carpal Tunnel Syndrome [MESH:D002349] (147)
Carpal Tunnel Syndrome [MESH:D002349] (147)
Neurofibrosarcoma [MESH:D018319] (44)
Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172)
Tangier Disease [MESH:D013631] (170)
Charcot-Marie-Tooth disease, Type 2F [MESH:C535413] (219)
Charcot-Marie-Tooth disease, X-linked, 1 [MESH:C535919] (72)
Charcot-Marie-Tooth disease, Type 1C [MESH:C537984] (69)
Charcot-Marie-Tooth disease, Type 2B1 [MESH:C537990] (77)
Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172)
Dyskinesia, Drug-Induced [MESH:D004409] (1389)
Arsenic Poisoning [MESH:D020261] (2540)
Restless Legs Syndrome [MESH:D012148] (379)
Sleep Initiation and Maintenance Disorders [MESH:D007319] (354)
Narcolepsy [MESH:D009290] (478)
Restless Legs Syndrome [MESH:D012148] (379)
Brain Injuries [MESH:D001930] (3431)
C11. Eye Diseases
C11. Eye Diseases
Corneal Neovascularization [MESH:D016510] (622)
Keratitis [MESH:D007634] (168)
Corneal dystrophy, gelatinous drop-like [MESH:C535480] (37)
Doyne honeycomb retinal dystrophy [MESH:C535602] (44)
Peters anomaly [MESH:C537884] (465)
Peters anomaly [MESH:C537884] (465)
Ectopia Lentis [MESH:D004479] (73)
Microphthalmia, Isolated, with Coloboma 5 [MESH:C566899] (50)
Microphthalmia, Isolated, with Coloboma 5 [MESH:C566899] (50)
Basal Laminar Drusen [MESH:C563034] (52)
Weill-Marchesani Syndrome [MESH:D056846] (65)
Corneal dystrophy, gelatinous drop-like [MESH:C535480] (37)
Doyne honeycomb retinal dystrophy [MESH:C535602] (44)
Brain Small Vessel Disease with Hemorrhage [MESH:C564372] (77)
Endophthalmitis [MESH:D009877] (15)
Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)
Dry Eye Syndromes [MESH:D015352] (533)
Cerebrooculofacioskeletal Syndrome 4 [MESH:C565184] (75)
Ectopia Lentis [MESH:D004479] (73)
Glaucoma 3, Primary Congenital, A [MESH:C565547] (434)
Glaucoma, Angle-Closure [MESH:D015812] (73)
Glaucoma, Primary Open Angle [MESH:C562750] (466)
Glaucoma 1, Open Angle, A [MESH:C564234] (446)
Ophthalmoplegia, Chronic Progressive External [MESH:D017246] (1313)
Ophthalmoplegia, Chronic Progressive External [MESH:D017246] (1311)
Progressive supranuclear palsy atypical [MESH:C537240] (142)
Graves Disease [MESH:D006111] (278)
MASS syndrome [MESH:C536030] (62)
Vasculopathy, Retinal, With Cerebral Leukodystrophy [MESH:C566007] (37)
Diabetic Retinopathy [MESH:D003930] (1371)
Retinal Vein Occlusion [MESH:D012170] (607)
Fundus Dystrophy, Pseudoinflammatory, Of Sorsby [MESH:C564992] (121)
Macular Degeneration, Age-Related, 4 [MESH:C565196] (67)
Macular Degeneration, Age-Related, 9 [MESH:C566958] (149)
Macular Edema [MESH:D008269] (557)
Basal Laminar Drusen [MESH:C563034] (52)
Knobloch syndrome [MESH:C537209] (70)
Brain Small Vessel Disease with Hemorrhage [MESH:C564372] (77)
Choroidal Neovascularization [MESH:D020256] (550)
Exfoliation Syndrome [MESH:D017889] (48)
Behcet Syndrome [MESH:D001528] (1784)
Blindness [MESH:D001766] (259)
C12. Male Urogenital Diseases
C12. Male Urogenital Diseases
Prostatic Neoplasms [MESH:D011471] (6135)
Testicular Neoplasms [MESH:D013736] (520)
Infertility, Male [MESH:D007248] (2851)
Hypospadias 1, X-Linked [MESH:C567482] (571)
Prostatic Neoplasms [MESH:D011471] (6135)
Prostatitis [MESH:D011472] (424)
Erectile Dysfunction [MESH:D007172] (1791)
Cortisone reductase deficiency [MESH:C536447] (136)
Androgen-Insensitivity Syndrome [MESH:D013734] (567)
Adrenal hyperplasia 2 [MESH:C538236] (89)
Hypospadias 1, X-Linked [MESH:C567482] (571)
Prostatic Neoplasms [MESH:D011471] (6135)
Testicular Neoplasms [MESH:D013736] (520)
Urinary Bladder Neoplasms [MESH:D001749] (4079)
Carcinoma, Renal Cell [MESH:D002292] (2975)
Wilms Tumor [MESH:D009396] (553)
Urinary Tract Infections [MESH:D014552] (984)
Dimauro disease [MESH:C536176] (33)
Complement Factor H Deficiency [MESH:C562875] (52)
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness [MESH:C563798] (43)
Diabetic Nephropathies [MESH:D003928] (2301)
Fanconi Syndrome [MESH:D005198] (253)
Hepatorenal Syndrome [MESH:D006530] (910)
Hyperoxaluria [MESH:D006959] (1498)
Hypertension, Renal [MESH:D006977] (698)
Nephrocalcinosis [MESH:D009397] (311)
Medullary cystic kidney disease 1 [MESH:C536137] (61)
Carcinoma, Renal Cell [MESH:D002292] (2975)
Wilms Tumor [MESH:D009396] (553)
Nephritis, Interstitial [MESH:D009395] (1927)
Glomerulonephritis, IGA [MESH:D005922] (897)
Glomerulosclerosis, Focal Segmental [MESH:D005923] (1754)
Lupus Nephritis [MESH:D008181] (602)
Glomerulopathy with fibronectin deposits [MESH:C536826] (244)
Kidney Calculi [MESH:D007669] (455)
Nephrotic syndrome, idiopathic, steroid-resistant [MESH:C536404] (30)
Kidney Tubular Necrosis, Acute [MESH:D007683] (974)
Kidney Failure, Chronic [MESH:D007676] (2930)
Iminoglycinuria [MESH:C536285] (38)
Renal hypouricemia [MESH:C537757] (71)
Hypomagnesemia 4, Renal [MESH:C567127] (225)
Fanconi Syndrome [MESH:D005198] (253)
Gitelman Syndrome [MESH:D053579] (30)
Glycosuria, Renal [MESH:D006030] (50)
Pseudohypoaldosteronism [MESH:D011546] (232)
Renal tubular acidosis, distal, autosomal recessive [MESH:C537758] (48)
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness [MESH:C562897] (11)
Renal Tubular Acidosis, Distal, With Hemolytic Anemia [MESH:C566910] (45)
Bartter syndrome, antenatal , type 2 [MESH:C537651] (30)
Bartter syndrome, antenatal type 1 [MESH:C537652] (39)
Bartter syndrome, type 3 [MESH:C537653] (14)
Bartter Syndrome, Type 4A [MESH:C566530] (27)
Vitamin D Hydroxylation-Deficient Rickets, Type 1A [MESH:C562688] (58)
Hypophosphatemic Rickets with Hypercalciuria, Hereditary [MESH:C562793] (17)
Hartnup Disease [MESH:D006250] (15)
Azotemia [MESH:D053099] (326)
Atypical hemolytic uremic syndrome [MESH:C538266] (277)
Ureteral Obstruction [MESH:D014517] (575)
Urinary Bladder Neoplasms [MESH:D001749] (4079)
Oliguria [MESH:D009846] (307)
Glycosuria, Renal [MESH:D006030] (50)
Albuminuria [MESH:D000419] (2394)
Kidney Calculi [MESH:D007669] (455)
Renal hypouricemia [MESH:C537757] (71)
Kidney Calculi [MESH:D007669] (455)
C13. Female Urogenital Diseases and Pregnancy Complications
C13. Female Urogenital Diseases and Pregnancy Complications
Not Fully Specified [NFS] (1116)
Endometriosis [MESH:D004715] (2461)
Infertility [MESH:D007246] (2211)
Polycystic Ovary Syndrome [MESH:D011085] (2186)
Ovarian epithelial cancer [MESH:C538090] (57)
Endometrial Hyperplasia [MESH:D004714] (263)
Uterine Cervical Neoplasms [MESH:D002583] (978)
Endometrial Neoplasms [MESH:D016889] (1984)
Uterine Cervical Neoplasms [MESH:D002583] (978)
Cortisone reductase deficiency [MESH:C536447] (136)
Androgen-Insensitivity Syndrome [MESH:D013734] (567)
Adrenal hyperplasia 2 [MESH:C538236] (89)
Hypospadias 1, X-Linked [MESH:C567482] (571)
Ovarian epithelial cancer [MESH:C538090] (57)
Endometrial Neoplasms [MESH:D016889] (1989)
Uterine Cervical Neoplasms [MESH:D002583] (978)
Urinary Bladder Neoplasms [MESH:D001749] (4079)
Carcinoma, Renal Cell [MESH:D002292] (2975)
Wilms Tumor [MESH:D009396] (553)
Urinary Tract Infections [MESH:D014552] (984)
Dimauro disease [MESH:C536176] (33)
Complement Factor H Deficiency [MESH:C562875] (52)
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness [MESH:C563798] (43)
Diabetic Nephropathies [MESH:D003928] (2301)
Fanconi Syndrome [MESH:D005198] (253)
Hepatorenal Syndrome [MESH:D006530] (910)
Hyperoxaluria [MESH:D006959] (1498)
Hypertension, Renal [MESH:D006977] (698)
Nephrocalcinosis [MESH:D009397] (311)
Medullary cystic kidney disease 1 [MESH:C536137] (61)
Carcinoma, Renal Cell [MESH:D002292] (2975)
Wilms Tumor [MESH:D009396] (553)
Nephritis, Interstitial [MESH:D009395] (1927)
Glomerulonephritis, IGA [MESH:D005922] (897)
Glomerulosclerosis, Focal Segmental [MESH:D005923] (1754)
Lupus Nephritis [MESH:D008181] (602)
Glomerulopathy with fibronectin deposits [MESH:C536826] (244)
Kidney Calculi [MESH:D007669] (455)
Nephrotic syndrome, idiopathic, steroid-resistant [MESH:C536404] (30)
Kidney Tubular Necrosis, Acute [MESH:D007683] (974)
Kidney Failure, Chronic [MESH:D007676] (2930)
Iminoglycinuria [MESH:C536285] (38)
Renal hypouricemia [MESH:C537757] (71)
Hypomagnesemia 4, Renal [MESH:C567127] (225)
Fanconi Syndrome [MESH:D005198] (253)
Gitelman Syndrome [MESH:D053579] (30)
Glycosuria, Renal [MESH:D006030] (50)
Pseudohypoaldosteronism [MESH:D011546] (232)
Renal tubular acidosis, distal, autosomal recessive [MESH:C537758] (48)
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness [MESH:C562897] (11)
Renal Tubular Acidosis, Distal, With Hemolytic Anemia [MESH:C566910] (45)
Bartter syndrome, antenatal , type 2 [MESH:C537651] (30)
Bartter syndrome, antenatal type 1 [MESH:C537652] (39)
Bartter syndrome, type 3 [MESH:C537653] (14)
Bartter Syndrome, Type 4A [MESH:C566530] (27)
Vitamin D Hydroxylation-Deficient Rickets, Type 1A [MESH:C562688] (58)
Hypophosphatemic Rickets with Hypercalciuria, Hereditary [MESH:C562793] (17)
Hartnup Disease [MESH:D006250] (15)
Azotemia [MESH:D053099] (326)
Atypical hemolytic uremic syndrome [MESH:C538266] (277)
Ureteral Obstruction [MESH:D014517] (575)
Urinary Bladder Neoplasms [MESH:D001749] (4079)
Oliguria [MESH:D009846] (307)
Glycosuria, Renal [MESH:D006030] (50)
Albuminuria [MESH:D000419] (2394)
Kidney Calculi [MESH:D007669] (455)
Renal hypouricemia [MESH:C537757] (71)
Kidney Calculi [MESH:D007669] (455)
Abortion, Spontaneous [MESH:D000022] (2780)
Diabetes, Gestational [MESH:D016640] (1157)
Pregnancy Complications, Infectious [MESH:D011251] (19)
Prenatal Injuries [MESH:D049188] (1314)
Pre-Eclampsia [MESH:D011225] (1435)
Abruptio Placentae [MESH:D000037] (430)
Abruptio Placentae [MESH:D000037] (430)
C14. Cardiovascular Diseases
C14. Cardiovascular Diseases
Not Fully Specified [NFS] (2667)
Cardiac valvular dysplasia, X-linked [MESH:C535576] (36)
Heart-hand syndrome, Slovenian type [MESH:C535852] (77)
Truncus Arteriosus, Persistent [MESH:D014339] (45)
Shprintzen Golberg craniosynostosis [MESH:C537328] (76)
Noonan Syndrome 6 [MESH:C548084] (44)
Endocarditis, Subacute Bacterial [MESH:D004698] (7)
Heart Failure [MESH:D006333] (4058)
Pericarditis [MESH:D010493] (69)
Bradycardia [MESH:D001919] (1899)
Atrioventricular Block [MESH:D054537] (188)
Sinoatrial Block [MESH:D012848] (95)
Long Qt Syndrome 10 [MESH:C567514] (13)
Tachycardia, Ventricular [MESH:D017180] (1386)
Hypertrophy, Left Ventricular [MESH:D017379] (1430)
Cardiomyopathy, Dilated, 1w [MESH:C566954] (66)
Cardiomyopathy, Dilated, 1y [MESH:C567507] (103)
Systemic carnitine deficiency [MESH:C536778] (92)
Diabetic Cardiomyopathies [MESH:D058065] (1995)
Endomyocardial Fibrosis [MESH:D004719] (521)
Myocardial Reperfusion Injury [MESH:D015428] (3500)
Myocarditis [MESH:D009205] (1708)
Cardiomyopathy, Dilated, 1w [MESH:C566954] (66)
Cardiomyopathy, Dilated, 1y [MESH:C567507] (103)
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of [MESH:C567006] (27)
Cardiomyopathy, Familial Hypertrophic, 3 [MESH:C566170] (103)
Cardiomyopathy, Familial Hypertrophic, 15 [MESH:C567681] (66)
Endocarditis, Subacute Bacterial [MESH:D004698] (7)
Death, Sudden, Cardiac [MESH:D016757] (168)
Cardiac valvular dysplasia, X-linked [MESH:C535576] (36)
Heart-hand syndrome, Slovenian type [MESH:C535852] (77)
Truncus Arteriosus, Persistent [MESH:D014339] (45)
Shprintzen Golberg craniosynostosis [MESH:C537328] (76)
Noonan Syndrome 6 [MESH:C548084] (44)
Aortic Valve Insufficiency [MESH:D001022] (1002)
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of [MESH:C567006] (27)
Cardiac valvular dysplasia, X-linked [MESH:C535576] (36)
MASS syndrome [MESH:C536030] (62)
Keutel syndrome [MESH:C536167] (102)
Acute Coronary Syndrome [MESH:D054058] (2286)
Myocardial Infarction [MESH:D009203] (4122)
Myocardial Reperfusion Injury [MESH:D015428] (3500)
Acute Coronary Syndrome [MESH:D054058] (2286)
Coronary Artery Disease [MESH:D003324] (2685)
Ventricular Dysfunction, Left [MESH:D018487] (1631)
Keutel syndrome [MESH:C536167] (102)
Vasculopathy, Retinal, With Cerebral Leukodystrophy [MESH:C566007] (37)
Compartment Syndromes [MESH:D003161] (80)
Hepatic Veno-Occlusive Disease [MESH:D006504] (208)
Hyperemia [MESH:D006940] (2372)
Hypotension [MESH:D007022] (4045)
Retinal Vein Occlusion [MESH:D012170] (607)
Varicose Veins [MESH:D014648] (383)
Vascular System Injuries [MESH:D057772] (2086)
Aortic aneurysm, familial thoracic 3 [MESH:C537783] (107)
Loeys-Dietz Syndrome, Type 1b [MESH:C567181] (107)
Aortic Rupture [MESH:D001019] (637)
Aortic Aneurysm, Abdominal [MESH:D017544] (1519)
Aortic Rupture [MESH:D001019] (637)
Aortic aneurysm, familial thoracic 3 [MESH:C537783] (107)
Aortic Aneurysm, Familial Thoracic 6 [MESH:C567085] (221)
Loeys-Dietz Syndrome, Type 1b [MESH:C567181] (107)
Aortic aneurysm, familial thoracic 3 [MESH:C537783] (107)
Loeys-Dietz Syndrome, Type 1b [MESH:C567181] (107)
Acquired angioedema [MESH:C538173] (157)
Hereditary Angioedema Types I and II [MESH:D056829] (111)
Aortic Aneurysm, Abdominal [MESH:D017544] (1519)
Aortic Rupture [MESH:D001019] (637)
Aortic aneurysm, familial thoracic 3 [MESH:C537783] (107)
Aortic Aneurysm, Familial Thoracic 6 [MESH:C567085] (221)
Loeys-Dietz Syndrome, Type 1b [MESH:C567181] (107)
Aortic aneurysm, familial thoracic 3 [MESH:C537783] (107)
Loeys-Dietz Syndrome, Type 1b [MESH:C567181] (107)
Atherosclerosis [MESH:D050197] (4188)
Coronary Artery Disease [MESH:D003324] (2685)
Carotid Artery Diseases [MESH:D002340] (1993)
Vasospasm, Intracranial [MESH:D020301] (324)
Ischemic Attack, Transient [MESH:D002546] (1313)
Infarction, Middle Cerebral Artery [MESH:D020244] (2268)
Infarction, Middle Cerebral Artery [MESH:D020244] (2268)
Cavernous Sinus Thrombosis [MESH:D020226] (7)
Sagittal Sinus Thrombosis [MESH:D020225] (223)
Cerebral Hemorrhage [MESH:D002543] (2873)
Infarction, Middle Cerebral Artery [MESH:D020244] (2268)
Diabetic Foot [MESH:D017719] (5)
Diabetic Retinopathy [MESH:D003930] (1371)
Pulmonary Embolism [MESH:D011655] (1118)
Venous Thromboembolism [MESH:D054556] (400)
Cavernous Sinus Thrombosis [MESH:D020226] (7)
Sagittal Sinus Thrombosis [MESH:D020225] (223)
Venous Thromboembolism [MESH:D054556] (400)
Cavernous Sinus Thrombosis [MESH:D020226] (7)
Sagittal Sinus Thrombosis [MESH:D020225] (223)
Retinal Vein Occlusion [MESH:D012170] (607)
Thrombophlebitis [MESH:D013924] (67)
Multiple Myeloma [MESH:D009101] (2765)
Ehlers-Danlos syndrome type 1 [MESH:C536194] (344)
Ehlers-Danlos syndrome type 3 [MESH:C536196] (142)
Ehlers-Danlos syndrome, cardiac valvular form [MESH:C536200] (152)
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant [MESH:C562625] (375)
Hypertension, Renal [MESH:D006977] (698)
Acute Coronary Syndrome [MESH:D054058] (2286)
Myocardial Infarction [MESH:D009203] (4151)
Myocardial Reperfusion Injury [MESH:D015428] (3500)
Acute Coronary Syndrome [MESH:D054058] (2286)
Coronary Artery Disease [MESH:D003324] (2685)
Aortic Aneurysm, Familial Thoracic 6 [MESH:C567085] (221)
Thrombophlebitis [MESH:D013924] (67)
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps [MESH:C567088] (77)
Myocardial Reperfusion Injury [MESH:D015428] (3500)
Behcet Syndrome [MESH:D001528] (1784)
Purpura, Schoenlein-Henoch [MESH:D011695] (266)
Vasculitis, Leukocytoclastic, Cutaneous [MESH:D018366] (121)
Thrombophlebitis [MESH:D013924] (67)
C15. Hemic and Lymphatic Diseases
C15. Hemic and Lymphatic Diseases
Not Fully Specified [NFS] (453)
Anemia, Sideroblastic [MESH:D000756] (636)
Renal Tubular Acidosis, Distal, With Hemolytic Anemia [MESH:C566910] (45)
Anemia, Sickle Cell [MESH:D000755] (1722)
Elliptocytosis, Hereditary [MESH:D004612] (95)
Spherocytosis, Type 4 [MESH:C567208] (45)
beta-Thalassemia [MESH:D017086] (458)
Atypical hemolytic uremic syndrome [MESH:C538266] (277)
5q- syndrome [MESH:C535323] (131)
Anemia, Megaloblastic [MESH:D000749] (288)
Scott Syndrome [MESH:C563120] (17)
Disseminated Intravascular Coagulation [MESH:D004211] (462)
Thrombocythemia, Essential [MESH:D013920] (707)
Activated Protein C Resistance [MESH:D020016] (140)
Factor XIII Deficiency [MESH:D005177] (52)
Afibrinogenemia congenital [MESH:C531603] (280)
Activated Protein C Resistance [MESH:D020016] (140)
Factor XIII Deficiency [MESH:D005177] (52)
Afibrinogenemia congenital [MESH:C531603] (280)
Purpura, Schoenlein-Henoch [MESH:D011695] (266)
Purpura, Thrombotic Thrombocytopenic [MESH:D011697] (222)
MYH9-Related Disorders [MESH:C535507] (46)
Macrothrombocytopenia progressive deafness [MESH:C537831] (46)
Atypical hemolytic uremic syndrome [MESH:C538266] (277)
Purpura, Thrombotic Thrombocytopenic [MESH:D011697] (222)
Thrombocythemia, Essential [MESH:D013920] (707)
Hypergammaglobulinemia [MESH:D006942] (137)
IgA Deficiency [MESH:D017098] (45)
Multiple Myeloma [MESH:D009101] (2765)
Leukemia, Myelomonocytic, Juvenile [MESH:D054429] (344)
Anemia, Sideroblastic [MESH:D000756] (636)
Myeloproliferative Disorder, Chronic, with Eosinophilia [MESH:C565054] (134)
Thrombocythemia, Essential [MESH:D013920] (707)
Anemia, Sickle Cell [MESH:D000755] (1722)
beta-Thalassemia [MESH:D017086] (458)
Disseminated Intravascular Coagulation [MESH:D004211] (462)
Factor XIII Deficiency [MESH:D005177] (52)
Thrombocythemia, Essential [MESH:D013920] (707)
Afibrinogenemia congenital [MESH:C531603] (280)
Multiple Myeloma [MESH:D009101] (2765)
Purpura, Schoenlein-Henoch [MESH:D011695] (266)
Ehlers-Danlos syndrome type 1 [MESH:C536194] (344)
Ehlers-Danlos syndrome type 3 [MESH:C536196] (142)
Ehlers-Danlos syndrome, cardiac valvular form [MESH:C536200] (152)
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant [MESH:C562625] (375)
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78)
Leukostasis [MESH:D018921] (769)
Myeloproliferative Disorder, Chronic, with Eosinophilia [MESH:C565054] (134)
Hypereosinophilic Syndrome [MESH:D017681] (119)
Neutropenia [MESH:D009503] (1629)
Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant [MESH:C567925] (283)
Activated Protein C Resistance [MESH:D020016] (140)
Disseminated Intravascular Coagulation [MESH:D004211] (462)
Purpura, Thrombotic Thrombocytopenic [MESH:D011697] (222)
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)
Lymphoma, Large-Cell, Anaplastic [MESH:D017728] (420)
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
Abnormalities, Drug-Induced [MESH:D000014] (1024)
Keutel syndrome [MESH:C536167] (102)
Vohwinkel syndrome [MESH:C536457] (68)
Weyers acrofacial dysostosis [MESH:C536695] (11)
Knuckle pads, leuconychia and sensorineural deafness [MESH:C537210] (68)
Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)
Beta-Ureidopropionase Deficiency [MESH:C563210] (35)
Angelman Syndrome [MESH:D017204] (124)
Weill-Marchesani Syndrome [MESH:D056846] (65)
Ellis-Van Creveld Syndrome [MESH:D004613] (50)
Holoprosencephaly 4 [MESH:C564180] (70)
Holoprosencephaly 3 [MESH:C564181] (50)
Aortic aneurysm, familial thoracic 3 [MESH:C537783] (107)
Loeys-Dietz Syndrome, Type 1b [MESH:C567181] (107)
Shprintzen Golberg craniosynostosis [MESH:C537328] (76)
Neural tube defect, folate-sensitive [MESH:C536409] (111)
Cardiac valvular dysplasia, X-linked [MESH:C535576] (36)
Heart-hand syndrome, Slovenian type [MESH:C535852] (77)
Truncus Arteriosus, Persistent [MESH:D014339] (45)
Long Qt Syndrome 10 [MESH:C567514] (13)
Shprintzen Golberg craniosynostosis [MESH:C537328] (76)
Noonan Syndrome 6 [MESH:C548084] (44)
Angelman Syndrome [MESH:D017204] (124)
Holoprosencephaly 4 [MESH:C564180] (70)
Holoprosencephaly 3 [MESH:C564181] (50)
Opitz-Kaveggia syndrome [MESH:C537923] (64)
Peters anomaly [MESH:C537884] (465)
Ectopia Lentis [MESH:D004479] (73)
Microphthalmia, Isolated, with Coloboma 5 [MESH:C566899] (50)
Microphthalmia, Isolated, with Coloboma 5 [MESH:C566899] (50)
Distal arthrogryposis type 2B [MESH:C538400] (85)
Cerebrooculofacioskeletal Syndrome 4 [MESH:C565184] (75)
Oto-Palato-digital syndrome type 1 [MESH:C536065] (46)
Oto-palato-digital syndrome, type 2 [MESH:C538089] (36)
Cerebrooculofacioskeletal Syndrome 4 [MESH:C565184] (75)
Crouzon Syndrome With Acanthosis Nigricans [MESH:C567382] (66)
Shprintzen Golberg craniosynostosis [MESH:C537328] (76)
Muenke Syndrome [MESH:C537369] (66)
Holoprosencephaly 4 [MESH:C564180] (70)
Holoprosencephaly 3 [MESH:C564181] (50)
Cleft Palate [MESH:D002972] (1330)
Meier-Gorlin syndrome [MESH:C538012] (133)
Noonan Syndrome 6 [MESH:C548084] (44)
Shprintzen Golberg craniosynostosis [MESH:C537328] (76)
Muenke Syndrome [MESH:C537369] (66)
Acromicric dysplasia [MESH:C535662] (520)
Weyers acrofacial dysostosis [MESH:C536695] (11)
Hypochondroplasia [MESH:C562937] (66)
Foot Deformities, Congenital [MESH:D005532] (538)
Shprintzen Golberg craniosynostosis [MESH:C537328] (76)
Heart-hand syndrome, Slovenian type [MESH:C535852] (77)
Oto-Palato-digital syndrome type 1 [MESH:C536065] (46)
Keutel syndrome [MESH:C536167] (102)
Vohwinkel syndrome [MESH:C536457] (68)
CATSHL syndrome [MESH:C537975] (66)
Oto-palato-digital syndrome, type 2 [MESH:C538089] (36)
Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)
Thanatophoric dysplasia, type 1 [MESH:C536507] (66)
Thanatophoric dysplasia, type 2 [MESH:C536508] (66)
Multiple Synostoses Syndrome 3 [MESH:C567839] (60)
Shprintzen Golberg craniosynostosis [MESH:C537328] (76)
Muenke Syndrome [MESH:C537369] (66)
Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)
Aicardi-Goutieres syndrome [MESH:C535607] (57)
Aicardi-Goutieres syndrome 5 [MESH:C535608] (22)
Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172)
Opitz-Kaveggia syndrome [MESH:C537923] (64)
Holoprosencephaly 4 [MESH:C564180] (70)
Holoprosencephaly 3 [MESH:C564181] (50)
Charcot-Marie-Tooth disease, Type 2F [MESH:C535413] (219)
Charcot-Marie-Tooth disease, X-linked, 1 [MESH:C535919] (72)
Charcot-Marie-Tooth disease, Type 1C [MESH:C537984] (69)
Charcot-Marie-Tooth disease, Type 2B1 [MESH:C537990] (77)
Holoprosencephaly 4 [MESH:C564180] (70)
Holoprosencephaly 3 [MESH:C564181] (50)
Lissencephaly [MESH:D054082] (218)
Heterotopia, Periventricular, Ehlers-Danlos Variant [MESH:C564492] (36)
Meningomyelocele [MESH:D008591] (100)
Neural tube defect, folate-sensitive [MESH:C536409] (111)
Knobloch syndrome [MESH:C537209] (70)
Tight skin contracture syndrome, lethal [MESH:C536920] (84)
Ellis-Van Creveld Syndrome [MESH:D004613] (50)
Ehlers-Danlos syndrome type 1 [MESH:C536194] (344)
Ehlers-Danlos syndrome type 3 [MESH:C536196] (142)
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)
Epidermolysis Bullosa, Junctional, Non-Herlitz Type [MESH:C562639] (150)
Epidermolysa bullosa simplex and limb girdle muscular dystrophy [MESH:C535955] (34)
Epidermolysis bullosa simplex, Ogna type [MESH:C535962] (34)
Epidermolysis Bullosa Simplex With Pyloric Atresia [MESH:C567408] (34)
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78)
Ichthyosiform erythroderma, Brocq congenital, nonbullous form [MESH:C538603] (62)
Cleft Palate [MESH:D002972] (1330)
Meier-Gorlin syndrome [MESH:C538012] (133)
Cleft Lip [MESH:D002971] (914)
Cleft Palate [MESH:D002972] (1330)
Weyers acrofacial dysostosis [MESH:C536695] (11)
Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)
Single upper central incisor [MESH:C537342] (50)
Cortisone reductase deficiency [MESH:C536447] (136)
Androgen-Insensitivity Syndrome [MESH:D013734] (567)
Adrenal hyperplasia 2 [MESH:C538236] (89)
Hypospadias 1, X-Linked [MESH:C567482] (571)
Corticosteroid-Binding Globulin Deficiency [MESH:C565152] (46)
Cirrhosis, Familial [MESH:C566123] (179)
Complement Factor I Deficiency [MESH:C572568] (49)
Angioedemas, Hereditary [MESH:D054179] (172)
Autoimmune Lymphoproliferative Syndrome [MESH:D056735] (704)
Cystic Fibrosis [MESH:D003550] (760)
Osteoarthropathy, Primary Hypertrophic [MESH:D010004] (94)
Weill-Marchesani Syndrome [MESH:D056846] (65)
Werner Syndrome [MESH:D014898] (88)
Adrenal hyperplasia 2 [MESH:C538236] (89)
Anemia, Sickle Cell [MESH:D000755] (1722)
Elliptocytosis, Hereditary [MESH:D004612] (95)
Spherocytosis, Type 4 [MESH:C567208] (45)
beta-Thalassemia [MESH:D017086] (458)
Activated Protein C Resistance [MESH:D020016] (140)
Factor XIII Deficiency [MESH:D005177] (52)
Afibrinogenemia congenital [MESH:C531603] (280)
Cardiomyopathy, Familial Hypertrophic, 3 [MESH:C566170] (103)
Cardiomyopathy, Familial Hypertrophic, 15 [MESH:C567681] (66)
Angelman Syndrome [MESH:D017204] (124)
Holoprosencephaly 4 [MESH:C564180] (70)
Holoprosencephaly 3 [MESH:C564181] (50)
Dyggve-Melchior-Clausen syndrome [MESH:C535726] (19)
Hypochondroplasia [MESH:C562937] (66)
Thanatophoric dysplasia, type 1 [MESH:C536507] (66)
Thanatophoric dysplasia, type 2 [MESH:C536508] (66)
Basal Laminar Drusen [MESH:C563034] (52)
Weill-Marchesani Syndrome [MESH:D056846] (65)
Corneal dystrophy, gelatinous drop-like [MESH:C535480] (37)
Doyne honeycomb retinal dystrophy [MESH:C535602] (44)
Congenital idiopathic intestinal pseudoobstruction [MESH:C535532] (36)
Cardiac valvular dysplasia, X-linked [MESH:C535576] (36)
Dyggve-Melchior-Clausen syndrome [MESH:C535726] (19)
Heterotopia, Periventricular, Ehlers-Danlos Variant [MESH:C564492] (36)
Surfactant Metabolism Dysfunction, Pulmonary, 4 [MESH:C567461] (30)
Hypospadias 1, X-Linked [MESH:C567482] (571)
Androgen-Insensitivity Syndrome [MESH:D013734] (567)
Muscular Dystrophy, Emery-Dreifuss [MESH:D020389] (169)
Bulbospinal neuronopathy, X-linked recessive [MESH:C537017] (565)
Snyder Robinson syndrome [MESH:C536678] (19)
Opitz-Kaveggia syndrome [MESH:C537923] (64)
Mental Retardation, X-Linked 63 [MESH:C564522] (64)
Mental Retardation, X-Linked 1 [MESH:C567906] (4)
Adrenoleukodystrophy [MESH:D000326] (1348)
Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)
Anemia, Sickle Cell [MESH:D000755] (1722)
beta-Thalassemia [MESH:D017086] (458)
Periodic fever, familial, autosomal dominant [MESH:C536657] (177)
Canavan Disease [MESH:D017825] (29)
Hepatolenticular Degeneration [MESH:D006527] (473)
Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172)
Huntington Disease [MESH:D006816] (540)
Unverricht-Lundborg Syndrome [MESH:D020194] (65)
Amyloidosis, Hereditary, Transthyretin-Related [MESH:C567782] (136)
Vasculopathy, Retinal, With Cerebral Leukodystrophy [MESH:C566007] (37)
Charcot-Marie-Tooth disease, Type 2F [MESH:C535413] (219)
Charcot-Marie-Tooth disease, X-linked, 1 [MESH:C535919] (72)
Charcot-Marie-Tooth disease, Type 1C [MESH:C537984] (69)
Charcot-Marie-Tooth disease, Type 2B1 [MESH:C537990] (77)
Snyder Robinson syndrome [MESH:C536678] (19)
Opitz-Kaveggia syndrome [MESH:C537923] (64)
Mental Retardation, X-Linked 63 [MESH:C564522] (64)
Mental Retardation, X-Linked 1 [MESH:C567906] (4)
Adrenoleukodystrophy [MESH:D000326] (1348)
Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)
Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)
Ceroid Lipofuscinosis, Neuronal, 10 [MESH:C566438] (159)
Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31)
Spinocerebellar Ataxia, Autosomal Recessive 9 [MESH:C567436] (49)
Aortic aneurysm, familial thoracic 3 [MESH:C537783] (107)
Loeys-Dietz Syndrome, Type 1b [MESH:C567181] (107)
Shprintzen Golberg craniosynostosis [MESH:C537328] (76)
3-Methylglutaconic Aciduria, Type I [MESH:C562801] (29)
Dihydropyrimidinase Deficiency [MESH:C562815] (27)
Hypoproteinemia, Hypercatabolic [MESH:C565476] (99)
Progeria [MESH:D011371] (105)
Homocarnosinosis [MESH:C535328] (8)
Gamma aminobutyric acid transaminase deficiency [MESH:C535407] (61)
Beta ketothiolase deficiency [MESH:C535434] (65)
succinic semialdehyde dehydrogenase deficiency [MESH:C535803] (42)
Hydroxykynureninuria [MESH:C536081] (52)
Glutamine deficiency, congenital [MESH:C536832] (117)
Glutaric aciduria 1 [MESH:C536833] (26)
Glutathionuria [MESH:C536836] (96)
Sarcosinemia [MESH:C537236] (38)
Methylmalonic acidemia [MESH:C537358] (764)
Aromatic amino acid decarboxylase deficiency [MESH:C537437] (88)
Sulfite oxidase deficiency [MESH:C538141] (27)
Acidemia, isovaleric [MESH:C538167] (47)
Aminoacylase 1 deficiency [MESH:C538246] (42)
Hyperprolinemia [MESH:C538384] (45)
Hyperprolinemia type 2 [MESH:C538385] (39)
Lysinuric Protein Intolerance [MESH:C562687] (42)
Glycine N-Methyltransferase Deficiency [MESH:C564683] (72)
Dimethylglycine Dehydrogenase Deficiency [MESH:C565278] (33)
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency [MESH:C565390] (43)
2-Methylbutyryl-CoA Dehydrogenase Deficiency [MESH:C566487] (38)
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of [MESH:C567006] (27)
Arginine:Glycine Amidinotransferase Deficiency [MESH:C567192] (66)
Alkaptonuria [MESH:D000474] (33)
Hyperglycinemia, Nonketotic [MESH:D020158] (67)
Maple Syrup Urine Disease [MESH:D008375] (127)
Phenylketonurias [MESH:D010661] (156)
Propionic Acidemia [MESH:D056693] (60)
Gamma-cystathionase deficiency [MESH:C535408] (106)
Homocystinuria [MESH:D006712] (93)
Saccharopinuria [MESH:C537218] (36)
Hawkinsinuria [MESH:C535845] (34)
3-methylcrotonyl CoA carboxylase 1 deficiency [MESH:C535308] (24)
3-methylcrotonyl CoA carboxylase 2 deficiency [MESH:C535309] (32)
HHH syndrome [MESH:C538380] (29)
Argininosuccinic Aciduria [MESH:D056807] (50)
Citrullinemia [MESH:D020159] (99)
Hartnup Disease [MESH:D006250] (15)
Corneal dystrophy, gelatinous drop-like [MESH:C535480] (37)
Amyloidosis, familial visceral [MESH:C538249] (285)
Amyloidosis IX [MESH:C562643] (52)
Amyloidosis, Hereditary, Transthyretin-Related [MESH:C567782] (136)
Homocarnosinosis [MESH:C535328] (8)
Hartnup Disease [MESH:D006250] (15)
Hepatolenticular Degeneration [MESH:D006527] (473)
Homocystinuria [MESH:D006712] (93)
Hyperglycinemia, Nonketotic [MESH:D020158] (67)
Leigh Disease [MESH:D007888] (206)
Maple Syrup Urine Disease [MESH:D008375] (127)
Phenylketonurias [MESH:D010661] (156)
Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)
Vasculopathy, Retinal, With Cerebral Leukodystrophy [MESH:C566007] (37)
Adrenoleukodystrophy [MESH:D000326] (1348)
Canavan Disease [MESH:D017825] (29)
Saccharopinuria [MESH:C537218] (36)
Tay-Sachs Disease, AB Variant [MESH:D049290] (46)
Bile acid synthesis defect, congenital, 4 [MESH:C535444] (45)
Adrenoleukodystrophy [MESH:D000326] (1348)
Hawkinsinuria [MESH:C535845] (34)
3-methylcrotonyl CoA carboxylase 1 deficiency [MESH:C535308] (24)
3-methylcrotonyl CoA carboxylase 2 deficiency [MESH:C535309] (32)
HHH syndrome [MESH:C538380] (29)
Argininosuccinic Aciduria [MESH:D056807] (50)
Citrullinemia [MESH:D020159] (99)
Pentosuria [MESH:C536652] (43)
Phosphoenolpyruvate carboxykinase deficiency [MESH:C536654] (135)
Fructosuria [MESH:C538068] (38)
Fructose-1,6-Diphosphatase Deficiency [MESH:D015319] (72)
Glycogen Storage Disease IC [MESH:C562805] (53)
Glycogen Storage Disease 0, Liver [MESH:C565485] (45)
Glycogen Storage Disease XIV [MESH:C567859] (42)
Glycogen Storage Disease Type VII [MESH:D006014] (37)
Glycogen Storage Disease IB [MESH:C562594] (53)
Mucopolysaccharidosis VII [MESH:D016538] (88)
Leigh Disease [MESH:D007888] (206)
Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)
Hyperlipidemia, Familial Combined [MESH:D006950] (372)
Hyperlipoproteinemia Type I [MESH:D008072] (219)
Hyperlipoproteinemia Type II [MESH:D006938] (707)
Xanthomatosis, Cerebrotendinous [MESH:D019294] (90)
Familial HDL deficiency [MESH:C538394] (170)
Tangier Disease [MESH:D013631] (170)
Hypobetalipoproteinemia, Familial, 2 [MESH:C565732] (16)
Abetalipoproteinemia [MESH:D000012] (63)
Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)
Ceroid Lipofuscinosis, Neuronal, 10 [MESH:C566438] (159)
Tay-Sachs Disease, AB Variant [MESH:D049290] (46)
Tay-Sachs Disease, AB Variant [MESH:D049290] (46)
Mucopolysaccharidosis VII [MESH:D016538] (88)
Hemochromatosis [MESH:D006432] (1694)
Hepatolenticular Degeneration [MESH:D006527] (473)
Hypophosphatasia, Childhood [MESH:C562440] (137)
Hypophosphatasia, Infantile [MESH:C562646] (137)
Hypophosphatasia, Adult [MESH:C562647] (137)
Vitamin D Hydroxylation-Deficient Rickets, Type 1A [MESH:C562688] (58)
Hypophosphatemic Rickets with Hypercalciuria, Hereditary [MESH:C562793] (17)
Bile acid synthesis defect, congenital, 4 [MESH:C535444] (45)
Acatalasia [MESH:D020642] (788)
Adrenoleukodystrophy [MESH:D000326] (1348)
Beta-Ureidopropionase Deficiency [MESH:C563210] (35)
Dihydropyrimidine Dehydrogenase Deficiency [MESH:D054067] (88)
Gout [MESH:D006073] (261)
Iminoglycinuria [MESH:C536285] (38)
Renal hypouricemia [MESH:C537757] (71)
Hypomagnesemia 4, Renal [MESH:C567127] (225)
Fanconi Syndrome [MESH:D005198] (253)
Gitelman Syndrome [MESH:D053579] (30)
Glycosuria, Renal [MESH:D006030] (50)
Pseudohypoaldosteronism [MESH:D011546] (232)
Renal tubular acidosis, distal, autosomal recessive [MESH:C537758] (48)
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness [MESH:C562897] (11)
Renal Tubular Acidosis, Distal, With Hemolytic Anemia [MESH:C566910] (45)
Vitamin D Hydroxylation-Deficient Rickets, Type 1A [MESH:C562688] (58)
Hypophosphatemic Rickets with Hypercalciuria, Hereditary [MESH:C562793] (17)
Hartnup Disease [MESH:D006250] (15)
Bile acid synthesis defect, congenital, 2 [MESH:C535443] (51)
Cortisone reductase deficiency [MESH:C536447] (136)
Adrenal hyperplasia 2 [MESH:C538236] (89)
Bethlem myopathy [MESH:C535436] (108)
Scleroatonic muscular dystrophy [MESH:C537521] (108)
Muscular Dystrophy, Congenital, Lmna-Related [MESH:C567708] (77)
Glycogen Storage Disease Type VII [MESH:D006014] (37)
Muscular Dystrophy, Emery-Dreifuss [MESH:D020389] (169)
Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854)
Limb-girdle muscular dystrophy, type 1B [MESH:C535898] (77)
Epidermolysa bullosa simplex and limb girdle muscular dystrophy [MESH:C535955] (34)
Congenital myasthenic syndrome ib [MESH:C536089] (46)
Adenomatous Polyposis Coli [MESH:D011125] (1565)
Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (260)
Wilms Tumor [MESH:D009396] (553)
Osteogenesis imperfecta, type 2A [MESH:C536042] (375)
Osteogenesis imperfecta, type 3 [MESH:C536044] (375)
Osteogenesis imperfecta, type 4 [MESH:C536045] (375)
Amyloidosis IX [MESH:C562643] (52)
Stiff Skin Syndrome [MESH:C566112] (62)
Dermatitis, Atopic [MESH:D003876] (2052)
Ellis-Van Creveld Syndrome [MESH:D004613] (50)
Ehlers-Danlos syndrome type 1 [MESH:C536194] (344)
Ehlers-Danlos syndrome type 3 [MESH:C536196] (142)
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)
Epidermolysis Bullosa, Junctional, Non-Herlitz Type [MESH:C562639] (150)
Epidermolysa bullosa simplex and limb girdle muscular dystrophy [MESH:C535955] (34)
Epidermolysis bullosa simplex, Ogna type [MESH:C535962] (34)
Epidermolysis Bullosa Simplex With Pyloric Atresia [MESH:C567408] (34)
Ichthyosiform erythroderma, Brocq congenital, nonbullous form [MESH:C538603] (62)
Keratoderma palmoplantar deafness [MESH:C536152] (68)
Vohwinkel syndrome [MESH:C536457] (68)
Knuckle pads, leuconychia and sensorineural deafness [MESH:C537210] (68)
Keratosis palmoplantaris with periodontopathia and onychogryposis [MESH:C537627] (73)
Hyperparathyroidism, Neonatal Severe Primary [MESH:C563375] (50)
Asphyxia Neonatorum [MESH:D001238] (1648)
Cystic Fibrosis [MESH:D003550] (760)
Tumoral Calcinosis, Hyperphosphatemic, Familial [MESH:C566870] (94)
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78)
Ichthyosiform erythroderma, Brocq congenital, nonbullous form [MESH:C538603] (62)
Bare Lymphocyte Syndrome, Type I [MESH:C565759] (101)
Thanatophoric dysplasia, type 1 [MESH:C536507] (66)
Thanatophoric dysplasia, type 2 [MESH:C536508] (66)
C17. Skin and Connective Tissue Diseases
C17. Skin and Connective Tissue Diseases
Cellulitis [MESH:D002481] (88)
Homocystinuria [MESH:D006712] (93)
Scleroderma, Localized [MESH:D012594] (1597)
Scleroderma, Systemic [MESH:D012595] (199)
Weill-Marchesani Syndrome [MESH:D056846] (65)
Keutel syndrome [MESH:C536167] (102)
Keloid [MESH:D007627] (1111)
Ehlers-Danlos syndrome type 1 [MESH:C536194] (344)
Ehlers-Danlos syndrome type 3 [MESH:C536196] (142)
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)
Chilblain lupus [MESH:C535924] (37)
Lupus Nephritis [MESH:D008181] (602)
Shprintzen Golberg craniosynostosis [MESH:C537328] (76)
Mucopolysaccharidosis VII [MESH:D016538] (88)
Noonan Syndrome 6 [MESH:C548084] (44)
Arthritis, Rheumatoid [MESH:D001172] (3603)
MASS syndrome [MESH:C536030] (62)
Exanthema [MESH:D005076] (301)
Nephrogenic Fibrosing Dermopathy [MESH:D054989] (452)
Pruritus [MESH:D011537] (647)
Scleroderma, Localized [MESH:D012594] (1597)
Scleroderma, Systemic [MESH:D012595] (199)
Chloracne [MESH:D054506] (1274)
Breast Neoplasms, Male [MESH:D018567] (650)
Dermatitis, Atopic [MESH:D003876] (2052)
Drug Eruptions [MESH:D003875] (2697)
Eczema [MESH:D004485] (235)
Dermatitis, Allergic Contact [MESH:D017449] (3241)
Dermatitis, Occupational [MESH:D009783] (311)
Erythema Multiforme [MESH:D004892] (1185)
Chloracne [MESH:D054506] (1274)
Cortisone reductase deficiency [MESH:C536447] (136)
Hypotrichosis simplex [MESH:C537160] (92)
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78)
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78)
Ichthyosiform erythroderma, Brocq congenital, nonbullous form [MESH:C538603] (62)
Keratoderma palmoplantar deafness [MESH:C536152] (68)
Vohwinkel syndrome [MESH:C536457] (68)
Knuckle pads, leuconychia and sensorineural deafness [MESH:C537210] (68)
Keratosis palmoplantaris with periodontopathia and onychogryposis [MESH:C537627] (73)
Chilblain lupus [MESH:C535924] (37)
Crouzon Syndrome With Acanthosis Nigricans [MESH:C567382] (66)
Vitiligo [MESH:D014820] (504)
Tight skin contracture syndrome, lethal [MESH:C536920] (84)
Ellis-Van Creveld Syndrome [MESH:D004613] (50)
Ehlers-Danlos syndrome type 1 [MESH:C536194] (344)
Ehlers-Danlos syndrome type 3 [MESH:C536196] (142)
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)
Epidermolysis Bullosa, Junctional, Non-Herlitz Type [MESH:C562639] (150)
Epidermolysa bullosa simplex and limb girdle muscular dystrophy [MESH:C535955] (34)
Epidermolysis bullosa simplex, Ogna type [MESH:C535962] (34)
Epidermolysis Bullosa Simplex With Pyloric Atresia [MESH:C567408] (34)
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78)
Ichthyosiform erythroderma, Brocq congenital, nonbullous form [MESH:C538603] (62)
Dermatitis, Atopic [MESH:D003876] (2052)
Eczema [MESH:D004485] (235)
Dermatitis, Allergic Contact [MESH:D017449] (3241)
Dermatitis, Occupational [MESH:D009783] (311)
Amyloidosis IX [MESH:C562643] (52)
Stiff Skin Syndrome [MESH:C566112] (62)
Dermatitis, Atopic [MESH:D003876] (2052)
Ellis-Van Creveld Syndrome [MESH:D004613] (50)
Ehlers-Danlos syndrome type 1 [MESH:C536194] (344)
Ehlers-Danlos syndrome type 3 [MESH:C536196] (142)
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)
Epidermolysis Bullosa, Junctional, Non-Herlitz Type [MESH:C562639] (150)
Epidermolysa bullosa simplex and limb girdle muscular dystrophy [MESH:C535955] (34)
Epidermolysis bullosa simplex, Ogna type [MESH:C535962] (34)
Epidermolysis Bullosa Simplex With Pyloric Atresia [MESH:C567408] (34)
Periodic fever, familial, autosomal dominant [MESH:C536657] (177)
Ichthyosiform erythroderma, Brocq congenital, nonbullous form [MESH:C538603] (62)
Keratoderma palmoplantar deafness [MESH:C536152] (68)
Vohwinkel syndrome [MESH:C536457] (68)
Knuckle pads, leuconychia and sensorineural deafness [MESH:C537210] (68)
Keratosis palmoplantaris with periodontopathia and onychogryposis [MESH:C537627] (73)
Candidiasis, Chronic Mucocutaneous [MESH:D002178] (224)
Hidradenitis Suppurativa [MESH:D017497] (120)
Staphylococcal Skin Infections [MESH:D013207] (15)
Leishmaniasis, Cutaneous [MESH:D016773] (2359)
Mandibuloacral dysplasia with type A lipodystrophy [MESH:C535705] (490)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy [MESH:C536329] (61)
HIV-Associated Lipodystrophy Syndrome [MESH:D039682] (91)
Lipodystrophy, Familial Partial [MESH:D052496] (589)
Psoriasis [MESH:D011565] (3278)
Behcet Syndrome [MESH:D001528] (1784)
Aortic Aneurysm, Familial Thoracic 6 [MESH:C567085] (221)
Acquired angioedema [MESH:C538173] (157)
Hereditary Angioedema Types I and II [MESH:D056829] (111)
Erythema Multiforme [MESH:D004892] (1185)
Pemphigus [MESH:D010392] (158)
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness [MESH:C563798] (43)
Epidermolysis Bullosa, Junctional, Non-Herlitz Type [MESH:C562639] (150)
Epidermolysa bullosa simplex and limb girdle muscular dystrophy [MESH:C535955] (34)
Epidermolysis bullosa simplex, Ogna type [MESH:C535962] (34)
Epidermolysis Bullosa Simplex With Pyloric Atresia [MESH:C567408] (34)
Nevus, Epidermal [MESH:C562736] (112)
Diabetic Foot [MESH:D017719] (5)
Hidradenitis Suppurativa [MESH:D017497] (120)
C18. Nutritional and Metabolic Diseases
C18. Nutritional and Metabolic Diseases
Not Fully Specified [NFS] (817)
Succinyl-CoA:3-oxoacid CoA transferase deficiency [MESH:C537527] (38)
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of [MESH:C567006] (27)
Acidosis, Lactic [MESH:D000140] (204)
Renal tubular acidosis, distal, autosomal recessive [MESH:C537758] (48)
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness [MESH:C562897] (11)
Renal Tubular Acidosis, Distal, With Hemolytic Anemia [MESH:C566910] (45)
Glutaric aciduria 1 [MESH:C536833] (26)
Hepatic Encephalopathy [MESH:D006501] (1795)
Homocarnosinosis [MESH:C535328] (8)
Hartnup Disease [MESH:D006250] (15)
Hepatolenticular Degeneration [MESH:D006527] (473)
Homocystinuria [MESH:D006712] (93)
Hyperglycinemia, Nonketotic [MESH:D020158] (67)
Leigh Disease [MESH:D007888] (206)
Maple Syrup Urine Disease [MESH:D008375] (127)
Phenylketonurias [MESH:D010661] (156)
Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)
Vasculopathy, Retinal, With Cerebral Leukodystrophy [MESH:C566007] (37)
Adrenoleukodystrophy [MESH:D000326] (1348)
Canavan Disease [MESH:D017825] (29)
Saccharopinuria [MESH:C537218] (36)
Tay-Sachs Disease, AB Variant [MESH:D049290] (46)
Bile acid synthesis defect, congenital, 4 [MESH:C535444] (45)
Adrenoleukodystrophy [MESH:D000326] (1348)
Hawkinsinuria [MESH:C535845] (34)
3-methylcrotonyl CoA carboxylase 1 deficiency [MESH:C535308] (24)
3-methylcrotonyl CoA carboxylase 2 deficiency [MESH:C535309] (32)
HHH syndrome [MESH:C538380] (29)
Argininosuccinic Aciduria [MESH:D056807] (50)
Citrullinemia [MESH:D020159] (99)
Hypocalcemia [MESH:D006996] (378)
Keutel syndrome [MESH:C536167] (102)
Idiopathic basal ganglia calcification 1 [MESH:C536275] (139)
Tumoral Calcinosis, Hyperphosphatemic, Familial [MESH:C566870] (94)
Nephrocalcinosis [MESH:D009397] (311)
Vascular Calcification [MESH:D061205] (138)
Hypocalciuric hypercalcemia, familial, type 1 [MESH:C537145] (50)
Vitamin D Hydroxylation-Deficient Rickets, Type 1A [MESH:C562688] (58)
Hypophosphatemic Rickets with Hypercalciuria, Hereditary [MESH:C562793] (17)
Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258)
Werner Syndrome [MESH:D014898] (88)
Bare Lymphocyte Syndrome, Type I [MESH:C565759] (101)
Hypoglycemia [MESH:D007003] (2420)
Diabetes Mellitus, Experimental [MESH:D003921] (4771)
Diabetes, Gestational [MESH:D016640] (1152)
Diabetes Mellitus, Insulin-Dependent, 19 [MESH:C565715] (29)
Maturity-Onset Diabetes of the Young, Type 1 [MESH:C565101] (293)
Glycosuria, Renal [MESH:D006030] (50)
Glucose Intolerance [MESH:D018149] (605)
Abdominal obesity metabolic syndrome [MESH:C535554] (359)
Familial apoceruloplasmin deficiency [MESH:C536004] (211)
Hemochromatosis [MESH:D006432] (1694)
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)
Familial HDL deficiency [MESH:C538394] (170)
Tangier Disease [MESH:D013631] (170)
Hypobetalipoproteinemia, Familial, 2 [MESH:C565732] (16)
Abetalipoproteinemia [MESH:D000012] (63)
Mandibuloacral dysplasia with type A lipodystrophy [MESH:C535705] (490)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy [MESH:C536329] (61)
HIV-Associated Lipodystrophy Syndrome [MESH:D039682] (91)
Lipodystrophy, Familial Partial [MESH:D052496] (589)
Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)
Ceroid Lipofuscinosis, Neuronal, 10 [MESH:C566438] (159)
Tay-Sachs Disease, AB Variant [MESH:D049290] (46)
Xanthomatosis, Cerebrotendinous [MESH:D019294] (90)
Celiac Disease [MESH:D002446] (340)
Gamma-cystathionase deficiency [MESH:C535408] (106)
Abdominal obesity metabolic syndrome [MESH:C535554] (359)
3-Methylglutaconic Aciduria, Type I [MESH:C562801] (29)
Dihydropyrimidinase Deficiency [MESH:C562815] (27)
Hypoproteinemia, Hypercatabolic [MESH:C565476] (99)
Progeria [MESH:D011371] (105)
Homocarnosinosis [MESH:C535328] (8)
Gamma aminobutyric acid transaminase deficiency [MESH:C535407] (61)
Beta ketothiolase deficiency [MESH:C535434] (65)
succinic semialdehyde dehydrogenase deficiency [MESH:C535803] (42)
Hydroxykynureninuria [MESH:C536081] (52)
Glutamine deficiency, congenital [MESH:C536832] (117)
Glutaric aciduria 1 [MESH:C536833] (26)
Glutathionuria [MESH:C536836] (96)
Sarcosinemia [MESH:C537236] (38)
Methylmalonic acidemia [MESH:C537358] (764)
Aromatic amino acid decarboxylase deficiency [MESH:C537437] (88)
Sulfite oxidase deficiency [MESH:C538141] (27)
Acidemia, isovaleric [MESH:C538167] (47)
Aminoacylase 1 deficiency [MESH:C538246] (42)
Hyperprolinemia [MESH:C538384] (45)
Hyperprolinemia type 2 [MESH:C538385] (39)
Lysinuric Protein Intolerance [MESH:C562687] (42)
Glycine N-Methyltransferase Deficiency [MESH:C564683] (72)
Dimethylglycine Dehydrogenase Deficiency [MESH:C565278] (33)
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency [MESH:C565390] (43)
2-Methylbutyryl-CoA Dehydrogenase Deficiency [MESH:C566487] (38)
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of [MESH:C567006] (27)
Arginine:Glycine Amidinotransferase Deficiency [MESH:C567192] (66)
Alkaptonuria [MESH:D000474] (33)
Hyperglycinemia, Nonketotic [MESH:D020158] (67)
Maple Syrup Urine Disease [MESH:D008375] (127)
Phenylketonurias [MESH:D010661] (156)
Propionic Acidemia [MESH:D056693] (60)
Gamma-cystathionase deficiency [MESH:C535408] (106)
Homocystinuria [MESH:D006712] (93)
Saccharopinuria [MESH:C537218] (36)
Hawkinsinuria [MESH:C535845] (34)
3-methylcrotonyl CoA carboxylase 1 deficiency [MESH:C535308] (24)
3-methylcrotonyl CoA carboxylase 2 deficiency [MESH:C535309] (32)
HHH syndrome [MESH:C538380] (29)
Argininosuccinic Aciduria [MESH:D056807] (50)
Citrullinemia [MESH:D020159] (99)
Hartnup Disease [MESH:D006250] (15)
Corneal dystrophy, gelatinous drop-like [MESH:C535480] (37)
Amyloidosis, familial visceral [MESH:C538249] (285)
Amyloidosis IX [MESH:C562643] (52)
Amyloidosis, Hereditary, Transthyretin-Related [MESH:C567782] (136)
Homocarnosinosis [MESH:C535328] (8)
Hartnup Disease [MESH:D006250] (15)
Hepatolenticular Degeneration [MESH:D006527] (473)
Homocystinuria [MESH:D006712] (93)
Hyperglycinemia, Nonketotic [MESH:D020158] (67)
Leigh Disease [MESH:D007888] (206)
Maple Syrup Urine Disease [MESH:D008375] (127)
Phenylketonurias [MESH:D010661] (156)
Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)
Vasculopathy, Retinal, With Cerebral Leukodystrophy [MESH:C566007] (37)
Adrenoleukodystrophy [MESH:D000326] (1348)
Canavan Disease [MESH:D017825] (29)
Saccharopinuria [MESH:C537218] (36)
Tay-Sachs Disease, AB Variant [MESH:D049290] (46)
Bile acid synthesis defect, congenital, 4 [MESH:C535444] (45)
Adrenoleukodystrophy [MESH:D000326] (1348)
Hawkinsinuria [MESH:C535845] (34)
3-methylcrotonyl CoA carboxylase 1 deficiency [MESH:C535308] (24)
3-methylcrotonyl CoA carboxylase 2 deficiency [MESH:C535309] (32)
HHH syndrome [MESH:C538380] (29)
Argininosuccinic Aciduria [MESH:D056807] (50)
Citrullinemia [MESH:D020159] (99)
Pentosuria [MESH:C536652] (43)
Phosphoenolpyruvate carboxykinase deficiency [MESH:C536654] (135)
Fructosuria [MESH:C538068] (38)
Fructose-1,6-Diphosphatase Deficiency [MESH:D015319] (72)
Glycogen Storage Disease IC [MESH:C562805] (53)
Glycogen Storage Disease 0, Liver [MESH:C565485] (45)
Glycogen Storage Disease XIV [MESH:C567859] (42)
Glycogen Storage Disease Type VII [MESH:D006014] (37)
Glycogen Storage Disease IB [MESH:C562594] (53)
Mucopolysaccharidosis VII [MESH:D016538] (88)
Leigh Disease [MESH:D007888] (206)
Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)
Hyperlipidemia, Familial Combined [MESH:D006950] (372)
Hyperlipoproteinemia Type I [MESH:D008072] (219)
Hyperlipoproteinemia Type II [MESH:D006938] (707)
Xanthomatosis, Cerebrotendinous [MESH:D019294] (90)
Familial HDL deficiency [MESH:C538394] (170)
Tangier Disease [MESH:D013631] (170)
Hypobetalipoproteinemia, Familial, 2 [MESH:C565732] (16)
Abetalipoproteinemia [MESH:D000012] (63)
Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)
Ceroid Lipofuscinosis, Neuronal, 10 [MESH:C566438] (159)
Tay-Sachs Disease, AB Variant [MESH:D049290] (46)
Tay-Sachs Disease, AB Variant [MESH:D049290] (46)
Mucopolysaccharidosis VII [MESH:D016538] (88)
Hemochromatosis [MESH:D006432] (1694)
Hepatolenticular Degeneration [MESH:D006527] (473)
Hypophosphatasia, Childhood [MESH:C562440] (137)
Hypophosphatasia, Infantile [MESH:C562646] (137)
Hypophosphatasia, Adult [MESH:C562647] (137)
Vitamin D Hydroxylation-Deficient Rickets, Type 1A [MESH:C562688] (58)
Hypophosphatemic Rickets with Hypercalciuria, Hereditary [MESH:C562793] (17)
Bile acid synthesis defect, congenital, 4 [MESH:C535444] (45)
Acatalasia [MESH:D020642] (788)
Adrenoleukodystrophy [MESH:D000326] (1348)
Beta-Ureidopropionase Deficiency [MESH:C563210] (35)
Dihydropyrimidine Dehydrogenase Deficiency [MESH:D054067] (88)
Gout [MESH:D006073] (261)
Iminoglycinuria [MESH:C536285] (38)
Renal hypouricemia [MESH:C537757] (71)
Hypomagnesemia 4, Renal [MESH:C567127] (225)
Fanconi Syndrome [MESH:D005198] (253)
Gitelman Syndrome [MESH:D053579] (30)
Glycosuria, Renal [MESH:D006030] (50)
Pseudohypoaldosteronism [MESH:D011546] (232)
Renal tubular acidosis, distal, autosomal recessive [MESH:C537758] (48)
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness [MESH:C562897] (11)
Renal Tubular Acidosis, Distal, With Hemolytic Anemia [MESH:C566910] (45)
Vitamin D Hydroxylation-Deficient Rickets, Type 1A [MESH:C562688] (58)
Hypophosphatemic Rickets with Hypercalciuria, Hereditary [MESH:C562793] (17)
Bile acid synthesis defect, congenital, 2 [MESH:C535443] (51)
Cortisone reductase deficiency [MESH:C536447] (136)
Adrenal hyperplasia 2 [MESH:C538236] (89)
Sarcosinemia [MESH:C537236] (38)
Mitochondrial complex I deficiency [MESH:C537475] (140)
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of [MESH:C567006] (27)
Leigh Disease [MESH:D007888] (206)
Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)
Ophthalmoplegia, Chronic Progressive External [MESH:D017246] (1313)
Tumoral Calcinosis, Hyperphosphatemic, Familial [MESH:C566870] (94)
Vitamin D Hydroxylation-Deficient Rickets, Type 1A [MESH:C562688] (58)
Hypophosphatemic Rickets with Hypercalciuria, Hereditary [MESH:C562793] (17)
Vitamin D Hydroxylation-Deficient Rickets, Type 1A [MESH:C562688] (58)
Hypophosphatemic Rickets with Hypercalciuria, Hereditary [MESH:C562793] (17)
Amyloidosis, Hereditary, Transthyretin-Related [MESH:C567782] (136)
Corneal dystrophy, gelatinous drop-like [MESH:C535480] (37)
Amyloidosis, familial visceral [MESH:C538249] (285)
Amyloidosis IX [MESH:C562643] (52)
Amyloidosis, Hereditary, Transthyretin-Related [MESH:C567782] (136)
Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559)
Frontotemporal Dementia [MESH:D057180] (298)
Mandibuloacral dysplasia with type A lipodystrophy [MESH:C535705] (490)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy [MESH:C536329] (61)
HIV-Associated Lipodystrophy Syndrome [MESH:D039682] (91)
Lipodystrophy, Familial Partial [MESH:D052496] (589)
Hypocalcemia [MESH:D006996] (368)
Hypokalemia [MESH:D007008] (1041)
Hypocalciuric hypercalcemia, familial, type 1 [MESH:C537145] (50)
Protein Deficiency [MESH:D011488] (1057)
Vitamin A Deficiency [MESH:D014802] (705)
Vitamin B 12 Deficiency [MESH:D014806] (47)
Gamma-cystathionase deficiency [MESH:C535408] (106)
Vitamin D Hydroxylation-Deficient Rickets, Type 1A [MESH:C562688] (58)
Hypophosphatemic Rickets with Hypercalciuria, Hereditary [MESH:C562793] (17)
Obesity [MESH:D009765] (4462)
C19. Endocrine System Diseases
C19. Endocrine System Diseases
Not Fully Specified [NFS] (123)
Bone Diseases, Endocrine [MESH:D001849] (173)
Adrenal hyperplasia 2 [MESH:C538236] (89)
Adrenoleukodystrophy [MESH:D000326] (1348)
Bartter syndrome, antenatal , type 2 [MESH:C537651] (30)
Bartter syndrome, antenatal type 1 [MESH:C537652] (39)
Bartter syndrome, type 3 [MESH:C537653] (14)
Bartter Syndrome, Type 4A [MESH:C566530] (27)
Diabetes, Gestational [MESH:D016640] (1152)
Diabetes Mellitus, Experimental [MESH:D003921] (4771)
Diabetic Cardiomyopathies [MESH:D058065] (1995)
Diabetic Nephropathies [MESH:D003928] (2301)
Diabetic Foot [MESH:D017719] (5)
Diabetic Retinopathy [MESH:D003930] (1371)
Diabetic Foot [MESH:D017719] (5)
Diabetes Mellitus, Insulin-Dependent, 19 [MESH:C565715] (29)
Maturity-Onset Diabetes of the Young, Type 1 [MESH:C565101] (293)
Dyggve-Melchior-Clausen syndrome [MESH:C535726] (19)
Hypochondroplasia [MESH:C562937] (66)
Testicular Neoplasms [MESH:D013736] (520)
Ovarian epithelial cancer [MESH:C538090] (57)
Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)
Thyroid cancer, anaplastic [MESH:C536910] (489)
Hypogonadism [MESH:D007006] (1123)
Cortisone reductase deficiency [MESH:C536447] (136)
Androgen-Insensitivity Syndrome [MESH:D013734] (567)
Adrenal hyperplasia 2 [MESH:C538236] (89)
Polycystic Ovary Syndrome [MESH:D011085] (2186)
Ovarian epithelial cancer [MESH:C538090] (57)
Testicular Neoplasms [MESH:D013736] (520)
Hyperparathyroidism, Secondary [MESH:D006962] (1138)
Hyperparathyroidism, Neonatal Severe Primary [MESH:C563375] (50)
Hypoparathyroidism familial isolated [MESH:C537156] (108)
Graves Disease [MESH:D006111] (278)
Pendred syndrome [MESH:C536648] (35)
Thyroid Hormone Resistance, Selective Pituitary [MESH:C564154] (113)
Graves Disease [MESH:D006111] (278)
Dystransthyretinemic Euthyroidal Hyperthyroxinemia [MESH:C567719] (136)
Thyroid Hormone Resistance, Generalized, Autosomal Dominant [MESH:C567934] (113)
Thyroid Hormone Resistance, Generalized, Autosomal Recessive [MESH:C567936] (113)
Thyroid cancer, anaplastic [MESH:C536910] (489)
Hashimoto Disease [MESH:D050031] (98)
C20. Immune System Diseases
C20. Immune System Diseases
Arthritis, Rheumatoid [MESH:D001172] (3601)
Autoimmune Lymphoproliferative Syndrome [MESH:D056735] (704)
Glomerulonephritis, IGA [MESH:D005922] (897)
Graves Disease [MESH:D006111] (278)
Hepatitis, Autoimmune [MESH:D019693] (1982)
Pemphigus [MESH:D010392] (158)
Aicardi-Goutieres syndrome [MESH:C535607] (57)
Aicardi-Goutieres syndrome 5 [MESH:C535608] (22)
Multiple Sclerosis [MESH:D009103] (1716)
Encephalomyelitis, Autoimmune, Experimental [MESH:D004681] (806)
Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172)
Diabetes Mellitus, Insulin-Dependent, 19 [MESH:C565715] (29)
Lupus Nephritis [MESH:D008181] (602)
Glomerulopathy with fibronectin deposits [MESH:C536826] (244)
Drug Eruptions [MESH:D003875] (2695)
Dermatitis, Allergic Contact [MESH:D017449] (3241)
Anaphylaxis [MESH:D000707] (299)
Dermatitis, Atopic [MESH:D003876] (2052)
Ige Responsiveness, Atopic [MESH:C564133] (267)
Alveolitis, Extrinsic Allergic [MESH:D000542] (495)
Asthma [MESH:D001249] (3914)
Acquired angioedema [MESH:C538173] (157)
Hereditary Angioedema Types I and II [MESH:D056829] (111)
Purpura, Schoenlein-Henoch [MESH:D011695] (266)
Vasculitis, Leukocytoclastic, Cutaneous [MESH:D018366] (121)
Complement Component 4, Partial Deficiency Of [MESH:C565168] (55)
MYD88 Deficiency [MESH:C567379] (79)
IgA Deficiency [MESH:D017098] (45)
HIV-Associated Lipodystrophy Syndrome [MESH:D039682] (91)
Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant [MESH:C567925] (283)
Bare Lymphocyte Syndrome, Type I [MESH:C565759] (101)
Hypergammaglobulinemia [MESH:D006942] (137)
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)
Lymphoma, Mantle-Cell [MESH:D020522] (561)
Lymphoma, Large B-Cell, Diffuse [MESH:D016403] (2012)
Lymphoma, Large-Cell, Anaplastic [MESH:D017728] (420)
Multiple Myeloma [MESH:D009101] (2765)
C22. Animal Diseases
C22. Animal Diseases
Disease Models, Animal [MESH:D004195] (2058)
Hepatitis, Animal [MESH:D006520] (260)
Mammary Neoplasms, Animal [MESH:D015674] (2735)
Paratuberculosis [MESH:D010283] (427)
C23. Pathological Conditions, Signs and Symptoms
C23. Pathological Conditions, Signs and Symptoms
Plaque, Atherosclerotic [MESH:D058226] (696)
Ventricular Remodeling [MESH:D020257] (686)
Opitz-Kaveggia syndrome [MESH:C537923] (64)
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78)
Muscular Atrophy [MESH:D009133] (1234)
Renal hypouricemia [MESH:C537757] (71)
Kidney Calculi [MESH:D007669] (455)
Hernia, Diaphragmatic [MESH:D006548] (2647)
Knobloch syndrome [MESH:C537209] (70)
Hernia, Inguinal [MESH:D006552] (111)
Hepatomegaly [MESH:D006529] (1169)
Hypertrophy, Left Ventricular [MESH:D017379] (1430)
Intestinal Polyps [MESH:D007417] (1592)
Azotemia [MESH:D053099] (326)
Emphysema [MESH:D004646] (1096)
Gliosis [MESH:D005911] (1419)
Hemolysis [MESH:D006461] (280)
Hyperplasia [MESH:D006965] (2463)
Hyperuricemia [MESH:D033461] (82)
Ischemia [MESH:D007511] (3049)
Necrosis [MESH:D009336] (4019)
Nerve Degeneration [MESH:D009410] (4061)
Bradycardia [MESH:D001919] (1899)
Atrioventricular Block [MESH:D054537] (188)
Sinoatrial Block [MESH:D012848] (95)
Long Qt Syndrome 10 [MESH:C567514] (13)
Tachycardia, Ventricular [MESH:D017180] (1386)
Micronuclei, Chromosome-Defective [MESH:D048629] (1013)
5q- syndrome [MESH:C535323] (131)
Death, Sudden, Cardiac [MESH:D016757] (168)
Sudden Infant Death [MESH:D013398] (268)
Disease Progression [MESH:D018450] (2868)
Recurrence [MESH:D012008] (830)
Genetic Predisposition to Disease [MESH:D020022] (966)
Nephrogenic Fibrosing Dermopathy [MESH:D054989] (452)
Keloid [MESH:D007627] (1110)
Microsatellite Instability [MESH:D053842] (141)
Granuloma, Respiratory Tract [MESH:D015769] (502)
Meier-Gorlin syndrome [MESH:C538012] (133)
Spondyloepimetaphyseal Dysplasia, Pakistani Type [MESH:C567551] (63)
Gastrointestinal Hemorrhage [MESH:D006471] (815)
Shock, Hemorrhagic [MESH:D012771] (2042)
Brain Small Vessel Disease with Hemorrhage [MESH:C564372] (77)
Cerebral Hemorrhage [MESH:D002543] (2872)
Purpura, Schoenlein-Henoch [MESH:D011695] (266)
Purpura, Thrombotic Thrombocytopenic [MESH:D011697] (222)
Systemic carnitine deficiency [MESH:C536778] (92)
HHH syndrome [MESH:C538380] (29)
Abscess [MESH:D000038] (31)
Cellulitis [MESH:D002481] (87)
Shock, Septic [MESH:D012772] (1830)
Endotoxemia [MESH:D019446] (1289)
Choroidal Neovascularization [MESH:D020256] (550)
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of [MESH:C567006] (27)
Neoplasm Invasiveness [MESH:D009361] (3388)
Neoplasm Recurrence, Local [MESH:D009364] (1949)
Cell Transformation, Neoplastic [MESH:D002471] (3389)
Lymphatic Metastasis [MESH:D008207] (917)
Ossification of the posterior longitudinal ligament of the spine [MESH:C537143] (98)
Myocardial Reperfusion Injury [MESH:D015428] (3500)
Scleroatonic muscular dystrophy [MESH:C537521] (108)
Multiple Organ Failure [MESH:D009102] (1836)
Shock, Hemorrhagic [MESH:D012771] (2042)
Shock, Septic [MESH:D012772] (1830)
Aging, Premature [MESH:D019588] (66)
Cyanosis [MESH:D003490] (288)
Edema [MESH:D004487] (3726)
Fetal Distress [MESH:D005316] (99)
Flushing [MESH:D005483] (506)
Hypergammaglobulinemia [MESH:D006942] (105)
Reticulocytosis [MESH:D045262] (514)
Fever [MESH:D005334] (2856)
Weight Gain [MESH:D015430] (2595)
Cachexia [MESH:D002100] (2283)
Obesity [MESH:D009765] (4454)
Corticosteroid-Binding Globulin Deficiency [MESH:C565152] (46)
Reflex, Abnormal [MESH:D012021] (485)
Seizures [MESH:D012640] (4502)
Sleep Disorders [MESH:D012893] (1301)
Vertigo [MESH:D014717] (97)
Catalepsy [MESH:D002375] (1429)
Dystonia [MESH:D004421] (848)
Hyperkinesis [MESH:D006948] (1799)
Dysequilibrium syndrome [MESH:C535731] (83)
Lethargy [MESH:D053609] (1035)
Memory Disorders [MESH:D008569] (3233)
Psychomotor Disorders [MESH:D011596] (576)
Learning Disorders [MESH:D007859] (2727)
Guanidinoacetate methyltransferase deficiency [MESH:C537622] (60)
Arginine:Glycine Amidinotransferase Deficiency [MESH:C567192] (66)
Dyggve-Melchior-Clausen syndrome [MESH:C535726] (19)
Dysequilibrium syndrome [MESH:C535731] (83)
Cerebrooculofacioskeletal Syndrome 4 [MESH:C565184] (75)
Mental Retardation, Autosomal Recessive 1 [MESH:C565406] (19)
Arginine:Glycine Amidinotransferase Deficiency [MESH:C567192] (66)
Muscular Atrophy [MESH:D009133] (1234)
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps [MESH:C567088] (77)
Muscle Rigidity [MESH:D009127] (617)
Opitz-Kaveggia syndrome [MESH:C537923] (64)
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of [MESH:C567006] (27)
Low Back Pain [MESH:D017116] (244)
Gastroparesis [MESH:D018589] (732)
Familial porencephaly [MESH:C536850] (77)
Ophthalmoplegia, Chronic Progressive External [MESH:D017246] (1311)
Progressive supranuclear palsy atypical [MESH:C537240] (142)
Dizziness [MESH:D004244] (289)
Tinnitus [MESH:D014012] (109)
CATSHL syndrome [MESH:C537975] (66)
Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)
Deafness [MESH:D003638] (593)
Hearing Loss, Bilateral [MESH:D006312] (55)
Hearing Loss, High-Frequency [MESH:D006316] (11)
Hearing Loss, Unilateral [MESH:D046088] (9)
MYH9-Related Disorders [MESH:C535507] (46)
Keratoderma palmoplantar deafness [MESH:C536152] (68)
Vohwinkel syndrome [MESH:C536457] (68)
Pendred syndrome [MESH:C536648] (35)
Knuckle pads, leuconychia and sensorineural deafness [MESH:C537210] (68)
Macrothrombocytopenia progressive deafness [MESH:C537831] (46)
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness [MESH:C562897] (11)
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness [MESH:C563798] (43)
Deafness, Autosomal Recessive 35 [MESH:C563908] (17)
Bartter Syndrome, Type 4A [MESH:C566530] (27)
Deafness, Autosomal Recessive 1A [MESH:C567134] (88)
Deafness, Autosomal Dominant 3A [MESH:C567277] (77)
Hyperalgesia [MESH:D006930] (3929)
Paresthesia [MESH:D010292] (416)
Blindness [MESH:D001766] (178)
Low Back Pain [MESH:D017116] (244)
Acute Coronary Syndrome [MESH:D054058] (2286)
Anorexia [MESH:D000855] (854)
Diarrhea [MESH:D003967] (858)
Opitz-Kaveggia syndrome [MESH:C537923] (64)
Anoxia [MESH:D000860] (1698)
Hyperoxia [MESH:D018496] (694)
Pruritus [MESH:D011537] (648)
Aortic Aneurysm, Familial Thoracic 6 [MESH:C567085] (221)
Purpura, Schoenlein-Henoch [MESH:D011695] (266)
Purpura, Thrombotic Thrombocytopenic [MESH:D011697] (222)
Oliguria [MESH:D009846] (307)
Hypophosphatemic Rickets with Hypercalciuria, Hereditary [MESH:C562793] (17)
Albuminuria [MESH:D000419] (2394)
Cortisone reductase deficiency [MESH:C536447] (136)
C24. Occupational Diseases
C24. Occupational Diseases
Dermatitis, Occupational [MESH:D009783] (311)
C25. Chemically-Induced Disorders
C25. Chemically-Induced Disorders
Drug-Induced Liver Injury [MESH:D056486] (4936)
Dyskinesia, Drug-Induced [MESH:D004409] (1389)
Drug Eruptions [MESH:D003875] (2697)
Arsenic Poisoning [MESH:D020261] (2540)
Drug-Induced Liver Injury [MESH:D056486] (4936)
Psychoses, Substance-Induced [MESH:D011605] (2053)
Dyskinesia, Drug-Induced [MESH:D004409] (1389)
Amphetamine-Related Disorders [MESH:D019969] (2858)
Cocaine-Related Disorders [MESH:D019970] (3054)
Drug Overdose [MESH:D062787] (513)
Psychoses, Substance-Induced [MESH:D011605] (2052)
Substance Withdrawal Syndrome [MESH:D013375] (2956)
Tobacco Use Disorder [MESH:D014029] (628)
Alcoholism [MESH:D000437] (1519)
Fatty Liver, Alcoholic [MESH:D005235] (657)
Liver Cirrhosis, Alcoholic [MESH:D008104] (3066)
C26. Wounds and Injuries
C26. Wounds and Injuries
Not Fully Specified [NFS] (2454)
Burns [MESH:D002056] (2565)
Fractures, Bone [MESH:D050723] (597)
Vascular System Injuries [MESH:D057772] (2086)
Brain Injuries [MESH:D001930] (3431)
Chilblain lupus [MESH:C535924] (37)
Radiation Injuries, Experimental [MESH:D011833] (2662)
Aortic Rupture [MESH:D001019] (637)
Carpal Tunnel Syndrome [MESH:D002349] (147)
Lung Injury [MESH:D055370] (1814)
Brain Injuries [MESH:D001930] (3431)
D09. Carbohydrates
D09. Carbohydrates
Vancomycin [MESH:D014640] (25)
D12. Amino Acids, Peptides, and Proteins
D12. Amino Acids, Peptides, and Proteins
Vancomycin [MESH:D014640] (25)
F. Psychiatry and Psychology
F. Psychiatry and Psychology
Dyggve-Melchior-Clausen syndrome [MESH:C535726] (19)
Dysequilibrium syndrome [MESH:C535731] (83)
Cerebrooculofacioskeletal Syndrome 4 [MESH:C565184] (75)
Mental Retardation, Autosomal Recessive 1 [MESH:C565406] (19)
Arginine:Glycine Amidinotransferase Deficiency [MESH:C567192] (66)
Arginine:Glycine Amidinotransferase Deficiency [MESH:C567192] (66)
Dyggve-Melchior-Clausen syndrome [MESH:C535726] (19)
Dysequilibrium syndrome [MESH:C535731] (83)
Cerebrooculofacioskeletal Syndrome 4 [MESH:C565184] (75)
Mental Retardation, Autosomal Recessive 1 [MESH:C565406] (19)
Arginine:Glycine Amidinotransferase Deficiency [MESH:C567192] (66)
Cortisone reductase deficiency [MESH:C536447] (136)
G. Phenomena and Processes
G. Phenomena and Processes
5q- syndrome [MESH:C535323] (131)
5q- syndrome [MESH:C535323] (131)
5q- syndrome [MESH:C535323] (131)
5q- syndrome [MESH:C535323] (131)
5q- syndrome [MESH:C535323] (131)
5q- syndrome [MESH:C535323] (131)