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 Flavonoids
D005419
 
  
  
  

MeSH Unique Identifier: D005419
Scope Notes: A group of phenyl benzopyrans named for having structures like FLAVONES.
Chemical – Gene Interaction

Note 1: Flavonoids analog results in decreased activity of ABCC1 protein

Note 2: Flavonoids results in decreased activity of ABCC1 protein

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1. Human Genes 
1. Human Genes
 ATP-binding cassette transporters [HGNC:ABC] (821) 
 ATP-binding cassette transporters, subfamily C [HGNC:ABCC] (458) 
 ATP-binding cassette, sub-family C (CFTR/MRP), member 1 [HGNC:ABCC1] (177)
 Basic helix-loop-helix [HGNC:BHLH] (618) 
 transcription factor 03 [HGNC:TCF3] (21)
 CD molecules [HGNC:CD] (1459) 
 colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) [HGNC:CSF2RB] (11)
 integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) [HGNC:ITGA2B] (24)
 integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) [HGNC:ITGAL] (26)
 intercellular adhesion molecule 1 [HGNC:ICAM1] (286)
 interleukin 02 receptor, alpha [HGNC:IL2RA] (45)
 selectin L [HGNC:SELL] (43)
 Cytochrome P450s [HGNC:CYP] (1673) 
 cytochrome P450, family 01, subfamily A, polypeptide 01 [HGNC:CYP1A1] (566)
 cytochrome P450, family 19, subfamily A, polypeptide 01 [HGNC:CYP19A1] (210)
 Fibronectin type III domain containing [HGNC:FN3] (399) 
 colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) [HGNC:CSF2RB] (11)
 Glutathione S-transferases [HGNC:GST] (460) 
 Glutathione S-transferases, soluble [HGNC:SGST] (447) 
 glutathione S-transferase pi 1 [HGNC:GSTP1] (218)
 Heat shock proteins [HGNC:HSP] (390) 
 Heat shock proteins, Chaperons [HGNC:CHAP] (114) 
 heat shock 60kDa protein 01 (chaperonin) [HGNC:HSPD1] (66)
 Homeoboxes [HGNC:homeobox] (219) 
 Homeoboxes, ANTP class [HGNC:HOXL] (152) 
 HOXL subclass homeoboxes [HGNC:HOXL] (95) 
 homeobox D03 [HGNC:HOXD3] (8)
 Immunoglobulin superfamily domain containing [HGNC:IGSF] (761) 
 Immunoglobulin-like domain containing [HGNC:IGD] (645) 
 intercellular adhesion molecule 1 [HGNC:ICAM1] (286)
 Integrins [HGNC:ITG] (284) 
 integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) [HGNC:ITGA2B] (24)
 integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) [HGNC:ITGAL] (26)
 Interleukins and interleukin receptors [HGNC:IL] (1294) 
 interleukin 02 receptor, alpha [HGNC:IL2RA] (45)
 interleukin 04 [HGNC:IL4] (164)
 interleukin 10 [HGNC:IL10] (187)
 Mitogen-activated protein kinase cascade [HGNC:MAP#K] (854) 
 Mitogen-activated protein kinase kinases [HGNC:MAP2K] (157) 
 mitogen-activated protein kinase kinase 1 [HGNC:MAP2K1] (106)
 Nuclear hormone receptors [HGNC:NR] (1322) 
 estrogen receptor 1 [HGNC:ESR1] (506)
 RNA binding motif containing [HGNC:RRM] (251) 
 peroxisome proliferator-activated receptor gamma, coactivator 1 alpha [HGNC:PPARGC1A] (87)
 L ribosomal proteins [HGNC:RPL] (79) 
 ribosomal protein L06 [HGNC:RPL6] (22)
 SH2 domain containing [HGNC:SH2D] (431) 
 signal transducer and activator of transcription 1, 91kDa [HGNC:STAT1] (108)
 signal transducer and activator of transcription 6, interleukin-4 induced [HGNC:STAT6] (32)
 Solute carriers [HGNC:SLC] (716) 
 solute carrier family 20 (phosphate transporter), member 01 [HGNC:SLC20A1] (30)
 Sulfotransferases, cytosolic [HGNC:SULT] (167) 
 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 [HGNC:SULT1A1] (105)
 UDP glucuronosyltransferases [HGNC:UGT] (298) 
 UDP glucuronosyltransferase 1 family, polypeptide A1 [HGNC:UGT1A1] (167)
2. Interaction: Human Genes and Chemicals 
2. Interaction: Human Genes and Chemicals
 Affects (3990) 
 binding (2423)
 localization (731)
 sulfation (13)
 Decreases (5154) 
 activity (2549)
 expression (2187)
 reaction (3393)
 Increases (5571) 
 activity (2865)
 cleavage (666)
 expression (3238)
 oxidation (295)
 reaction (1574)
 sulfation (74)
A. Anatomy 
A. Anatomy
 Body Regions [MESH:D001829] (867) 
 Extremities [MESH:D005121] (484) 
 Lower Extremity [MESH:D035002] (139) 
 Foot [MESH:D005528] (125) 
 Forefoot, Human [MESH:D005545] (118) 
 Toes [MESH:D014034] (115) 
 Rosselli-Gulienetti Syndrome [MESH:C563117] (25)
 Upper Extremity [MESH:D034941] (441) 
 Hand [MESH:D006225] (428) 
 Fingers [MESH:D005385] (422) 
 Rosselli-Gulienetti Syndrome [MESH:C563117] (25)
 Head [MESH:D006257] (523) 
 Ear [MESH:D004423] (236) 
 Cutis Gyrata Syndrome of Beare And Stevenson [MESH:C565129] (85)
 Microtia, Hearing Impairment, And Cleft Palate [MESH:C567359] (30)
 Musculoskeletal System [MESH:D009141] (1255) 
 Skeleton [MESH:D012863] (1177) 
 Bone and Bones [MESH:D001842] (1112) 
 Bones of Upper Extremity [MESH:D001133] (240) 
 Arm Bones [MESH:D050280] (183) 
 Radius [MESH:D011884] (126) 
 VATER association [MESH:C536534] (46)
 Skull [MESH:D012886] (610) 
 Facial Bones [MESH:D005147] (539) 
 Jaw [MESH:D007568] (524) 
 Mandible [MESH:D008334] (511) 
 Mandibuloacral dysplasia with type A lipodystrophy [MESH:C535705] (490)
 Spine [MESH:D013131] (258) 
 VATER association [MESH:C536534] (46)
 Sacrum [MESH:D012447] (50) 
 Currarino triad [MESH:C536221] (47)
 Digestive System [MESH:D004064] (421) 
 Gastrointestinal Tract [MESH:D041981] (364) 
 Intestines [MESH:D007422] (271) 
 Intestine, Large [MESH:D007420] (247) 
 Anal Canal [MESH:D001003] (217) 
 Currarino triad [MESH:C536221] (47)
 Rectum [MESH:D012007] (69) 
 Currarino triad [MESH:C536221] (47)
 Lower Gastrointestinal Tract [MESH:D041741] (254) 
 Intestine, Large [MESH:D007420] (247) 
 Anal Canal [MESH:D001003] (217) 
 Currarino triad [MESH:C536221] (47)
 Rectum [MESH:D012007] (69) 
 Currarino triad [MESH:C536221] (47)
 Mouth [MESH:D009055] (60) 
 Salivary Glands [MESH:D012469] (51) 
 Aplasia of Lacrimal and Salivary Glands [MESH:C562407] (42)
 Upper Gastrointestinal Tract [MESH:D041742] (236) 
 Esophagus [MESH:D004947] (200) 
 VATER association [MESH:C536534] (46)
 Pancreas [MESH:D010179] (61) 
 Pancreatic Agenesis, Congenital [MESH:C564908] (44)
 Respiratory System [MESH:D012137] (321) 
 Trachea [MESH:D014132] (190) 
 VATER association [MESH:C536534] (46)
 Urogenital System [MESH:D014566] (986) 
 Urinary Tract [MESH:D014551] (721) 
 Kidney [MESH:D007668] (707) 
 Nephrons [MESH:D009399] (518) 
 Kidney Tubules [MESH:D007684] (510) 
 Kidney Tubules, Proximal [MESH:D007687] (504) 
 Allanson Pantzar McLeod syndrome [MESH:C537048] (503)
 Cardiovascular System [MESH:D002319] (1086) 
 Blood Vessels [MESH:D001808] (278) 
 Microvessels [MESH:D055806] (59) 
 Capillaries [MESH:D002196] (54) 
 Capillary Malformation-Arteriovenous Malformation [MESH:C564254] (50)
 Heart [MESH:D006321] (904) 
 Heart Conduction System [MESH:D006329] (263) 
 Short QT Syndrome 1 [MESH:C566506] (189)
 Heart Valves [MESH:D006351] (666) 
 Aortic Valve [MESH:D001021] (659) 
 Aortic Valve, Calcification of [MESH:C562942] (655)
 Sense Organs [MESH:D012679] (1060) 
 Ear [MESH:D004423] (323) 
 Cutis Gyrata Syndrome of Beare And Stevenson [MESH:C565129] (85)
 Microtia, Hearing Impairment, And Cleft Palate [MESH:C567359] (30)
 Eye [MESH:D005123] (858) 
 Lacrimal Apparatus [MESH:D007765] (48) 
 Aplasia of Lacrimal and Salivary Glands [MESH:C562407] (42)
 Tissues [MESH:D014024] (397) 
 Epithelium [MESH:D004848] (92) 
 Epidermis [MESH:D004817] (30) 
 Hair Follicle [MESH:D018859] (29) 
 Atrichia with Papular Lesions [MESH:C565924] (23)
 Exocrine Glands [MESH:D005088] (88) 
 Lacrimal Apparatus [MESH:D007765] (45) 
 Aplasia of Lacrimal and Salivary Glands [MESH:C562407] (42)
 Salivary Glands [MESH:D012469] (51) 
 Aplasia of Lacrimal and Salivary Glands [MESH:C562407] (42)
 Cells [MESH:D002477] (1885) 
 Cellular Structures [MESH:D022082] (1562) 
 Chromosomes [MESH:D002875] (1300) 
 Chromosomes, Mammalian [MESH:D033481] (1282) 
 Chromosomes, Human [MESH:D002877] (1280) 
 Chromosomes, Human, 1-3 [MESH:D002900] (128) 
 Chromosomes, Human, Pair 3 [MESH:D002893] (90) 
 Chromosome 3, monosomy 3p25 [MESH:C536807] (76)
 Chromosomes, Human, 16-18 [MESH:D002902] (799) 
 Chromosomes, Human, Pair 17 [MESH:D002886] (779) 
 Chromosome 17 deletion [MESH:C538045] (769)
 Chromosomes, Human, 21-22 and Y [MESH:D002904] (294) 
 Chromosomes, Human, Pair 21 [MESH:D002891] (58) 
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Stomatognathic System [MESH:D013284] (673) 
 Jaw [MESH:D007568] (528) 
 Mandible [MESH:D008334] (511) 
 Mandibuloacral dysplasia with type A lipodystrophy [MESH:C535705] (490)
 Mouth [MESH:D009055] (194) 
 Dentition [MESH:D003817] (109) 
 Tooth [MESH:D014070] (61) 
 Incisor [MESH:D007180] (51) 
 Single upper central incisor [MESH:C537342] (50)
 Salivary Glands [MESH:D012469] (51) 
 Aplasia of Lacrimal and Salivary Glands [MESH:C562407] (42)
 Integumentary System [MESH:D034582] (104) 
 Hair [MESH:D006197] (75) 
 Hair Follicle [MESH:D018859] (29) 
 Atrichia with Papular Lesions [MESH:C565924] (23)
 Skin [MESH:D012867] (57) 
 Epidermis [MESH:D004817] (30) 
 Hair Follicle [MESH:D018859] (29) 
 Atrichia with Papular Lesions [MESH:C565924] (23)
C01. Bacterial Infections and Mycoses 
C01. Bacterial Infections and Mycoses
 Bacterial Infections [MESH:D001424] (3716) 
 Gram-Negative Bacterial Infections [MESH:D016905] (3085) 
 Mycoplasmatales Infections [MESH:D009180] (1949) 
 Mycoplasma Infections [MESH:D009175] (1947)
 Neisseriaceae Infections [MESH:D016870] (273) 
 Meningococcal Infections [MESH:D008589] (242)
 Gram-Positive Bacterial Infections [MESH:D016908] (2434) 
 Actinomycetales Infections [MESH:D000193] (1466) 
 Mycobacterium Infections [MESH:D009164] (1446) 
 Leprosy [MESH:D007918] (261)
 Mycobacterium Infections, Nontuberculous [MESH:D009165] (480)
 Tuberculosis [MESH:D014376] (992) 
 Tuberculosis, Bovine [MESH:D014380] (380)
 Tuberculosis, Pulmonary [MESH:D014397] (678)
 Infection [MESH:D007239] (4109) 
 Urinary Tract Infections [MESH:D014552] (984)
 Intraabdominal Infections [MESH:D059413] (958) 
 Appendicitis [MESH:D001064] (774)
 Opportunistic Infections [MESH:D009894] (949) 
 AIDS-Related Opportunistic Infections [MESH:D017088] (944) 
 AIDS-related Kaposi sarcoma [MESH:C554498] (914)
 Sepsis [MESH:D018805] (3556) 
 Shock, Septic [MESH:D012772] (1830)
 Bacteremia [MESH:D016470] (1369) 
 Endotoxemia [MESH:D019446] (1289)
 Skin Diseases, Infectious [MESH:D012874] (415) 
 Dermatomycoses [MESH:D003881] (267) 
 Candidiasis, Chronic Mucocutaneous [MESH:D002178] (224)
 Toxemia [MESH:D014115] (1290) 
 Endotoxemia [MESH:D019446] (1289)
 Mycoses [MESH:D009181] (385) 
 Candidiasis [MESH:D002177] (307) 
 Candidiasis, Chronic Mucocutaneous [MESH:D002178] (224)
 Dermatomycoses [MESH:D003881] (267) 
 Candidiasis, Chronic Mucocutaneous [MESH:D002178] (224)
C02. Virus Diseases 
C02. Virus Diseases
 Virus Diseases [MESH:D014777] (4544) 
 Pneumonia, Viral [MESH:D011024] (125)
 Central Nervous System Viral Diseases [MESH:D020805] (1416) 
 Meningitis, Viral [MESH:D008587] (1308) 
 Meningitis, Aseptic [MESH:D008582] (1305)
 DNA Virus Infections [MESH:D004266] (2474) 
 Herpesviridae Infections [MESH:D006566] (1944) 
 Cytomegalovirus Infections [MESH:D003586] (222)
 Epstein-Barr Virus Infections [MESH:D020031] (695) 
 Burkitt Lymphoma [MESH:D002051] (691)
 Sarcoma, Kaposi [MESH:D012514] (1578) 
 AIDS-related Kaposi sarcoma [MESH:C554498] (914)
 Papillomavirus Infections [MESH:D030361] (630) 
 Warts [MESH:D014860] (172) 
 WHIM syndrome [MESH:C536697] (148)
 Hepatitis, Viral, Human [MESH:D006525] (1766) 
 Hepatitis C [MESH:D006526] (1627)
 Meningitis, Viral [MESH:D008587] (1308) 
 Meningitis, Aseptic [MESH:D008582] (1305)
 Opportunistic Infections [MESH:D009894] (949) 
 AIDS-Related Opportunistic Infections [MESH:D017088] (944) 
 AIDS-related Kaposi sarcoma [MESH:C554498] (914)
 RNA Virus Infections [MESH:D012327] (4215) 
 Flaviviridae Infections [MESH:D018178] (1656) 
 Hepatitis C [MESH:D006526] (1627)
 Mononegavirales Infections [MESH:D018701] (900) 
 Paramyxoviridae Infections [MESH:D018184] (889) 
 Pneumovirus Infections [MESH:D018186] (853) 
 Respiratory Syncytial Virus Infections [MESH:D018357] (852)
 Nidovirales Infections [MESH:D030341] (136) 
 Coronaviridae Infections [MESH:D003333] (133) 
 Coronavirus Infections [MESH:D018352] (131) 
 Severe Acute Respiratory Syndrome [MESH:D045169] (127)
 Orthomyxoviridae Infections [MESH:D009976] (1077) 
 Influenza, Human [MESH:D007251] (1075)
 Picornaviridae Infections [MESH:D010850] (1672) 
 Enterovirus Infections [MESH:D004769] (241) 
 Coxsackievirus Infections [MESH:D003384] (194)
 Retroviridae Infections [MESH:D012192] (3420) 
 Lentivirus Infections [MESH:D016180] (3408) 
 HIV Infections [MESH:D015658] (3402) 
 HIV Seropositivity [MESH:D006679] (480)
 AIDS-Related Opportunistic Infections [MESH:D017088] (944) 
 AIDS-related Kaposi sarcoma [MESH:C554498] (914)
 Sexually Transmitted Diseases [MESH:D012749] (3305) 
 Sexually Transmitted Diseases, Viral [MESH:D015229] (3304) 
 HIV Infections [MESH:D015658] (3296) 
 HIV Seropositivity [MESH:D006679] (480)
 Skin Diseases, Viral [MESH:D017193] (203) 
 Warts [MESH:D014860] (172) 
 WHIM syndrome [MESH:C536697] (148)
 Tumor Virus Infections [MESH:D014412] (1069) 
 Epstein-Barr Virus Infections [MESH:D020031] (693) 
 Burkitt Lymphoma [MESH:D002051] (691)
 Warts [MESH:D014860] (172) 
 WHIM syndrome [MESH:C536697] (148)
C03. Parasitic Diseases 
C03. Parasitic Diseases
 Parasitic Diseases [MESH:D010272] (3828) 
 Liver Diseases, Parasitic [MESH:D008109] (1009)
 Helminthiasis [MESH:D006373] (1644) 
 Trematode Infections [MESH:D014201] (1182) 
 Schistosomiasis [MESH:D012552] (1073) 
 Schistosomiasis mansoni [MESH:D012555] (1033)
 Opportunistic Infections [MESH:D009894] (949) 
 AIDS-Related Opportunistic Infections [MESH:D017088] (944) 
 AIDS-related Kaposi sarcoma [MESH:C554498] (914)
 Protozoan Infections [MESH:D011528] (3014) 
 Malaria [MESH:D008288] (2175)
 Amebiasis [MESH:D000562] (1711) 
 Entamoebiasis [MESH:D004749] (1689)
 Euglenozoa Infections [MESH:D056986] (2552) 
 Leishmaniasis [MESH:D007896] (2541) 
 Leishmaniasis, Cutaneous [MESH:D016773] (2359)
 Leishmaniasis, Visceral [MESH:D007898] (2149)
 Skin Diseases, Parasitic [MESH:D012876] (2541) 
 Leishmaniasis [MESH:D007896] (2516) 
 Leishmaniasis, Cutaneous [MESH:D016773] (2359)
C04. Neoplasms 
C04. Neoplasms
 Neoplasms [MESH:D009369] (10293) 
 Precancerous Conditions [MESH:D011230] (2858)
 Cysts [MESH:D003560] (2625) 
 Follicular Cyst [MESH:D005497] (151)
 Bone Cysts [MESH:D001845] (78) 
 Jaw Cysts [MESH:D007570] (74) 
 Odontogenic Cysts [MESH:D009807] (72) 
 Basal Cell Nevus Syndrome [MESH:D001478] (67)
 Ovarian Cysts [MESH:D010048] (2534) 
 Polycystic Ovary Syndrome [MESH:D011085] (2186)
 Hamartoma [MESH:D006222] (1484) 
 Hamartoma Syndrome, Multiple [MESH:D006223] (262)
 Neoplasms by Histologic Type [MESH:D009370] (8793) 
 Leukemia [MESH:D007938] (4576) 
 Leukemia, Lymphoid [MESH:D007945] (3047) 
 Leukemia, T-Cell [MESH:D015458] (395)
 Leukemia, B-Cell [MESH:D015448] (2564) 
 Leukemia, Lymphocytic, Chronic, B-Cell [MESH:D015451] (2562)
 Precursor Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054198] (1754) 
 Precursor B-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D015452] (354)
 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054218] (510)
 Leukemia, Myeloid [MESH:D007951] (2773) 
 Leukemia, Myelogenous, Chronic, BCR-ABL Positive [MESH:D015464] (1032)
 Leukemia, Myelomonocytic, Juvenile [MESH:D054429] (344)
 Leukemia, Myeloid, Acute [MESH:D015470] (2176) 
 Leukemia, Promyelocytic, Acute [MESH:D015473] (1367)
 Lymphatic Vessel Tumors [MESH:D018190] (171) 
 Lymphangiomyoma [MESH:D008203] (163) 
 Lymphangioleiomyomatosis [MESH:D018192] (162)
 Lymphoma [MESH:D008223] (3686) 
 Hodgkin Disease [MESH:D006689] (1082)
 Lymphoma, Non-Hodgkin [MESH:D008228] (3337) 
 Burkitt Lymphoma [MESH:D002051] (691)
 Lymphoma, Follicular [MESH:D008224] (1025)
 Lymphoma, Mantle-Cell [MESH:D020522] (561)
 Lymphoma, B-Cell [MESH:D016393] (2624) 
 Burkitt Lymphoma [MESH:D002051] (691)
 Lymphoma, AIDS-Related [MESH:D016483] (278)
 Lymphoma, Large B-Cell, Diffuse [MESH:D016403] (2012)
 Lymphoma, T-Cell [MESH:D016399] (1405) 
 Lymphoma, T-Cell, Cutaneous [MESH:D016410] (912)
 Neoplasms, Complex and Mixed [MESH:D018193] (1121) 
 Carcinosarcoma [MESH:D002296] (581)
 Wilms Tumor [MESH:D009396] (553) 
 Denys-Drash Syndrome [MESH:D030321] (57)
 WAGR Syndrome [MESH:D017624] (270)
 Neoplasms, Connective and Soft Tissue [MESH:D018204] (4742) 
 Neoplasms, Adipose Tissue [MESH:D018205] (677) 
 Liposarcoma [MESH:D008080] (612) 
 Liposarcoma, Myxoid [MESH:D018208] (358)
 Neoplasms, Connective Tissue [MESH:D009372] (3626) 
 Sarcoma, Synovial [MESH:D013584] (993)
 Chondrosarcoma [MESH:D002813] (1217) 
 Chondrosarcoma, Mesenchymal [MESH:D018211] (1161)
 Myxoma [MESH:D009232] (78) 
 Carney Complex [MESH:D056733] (45) 
 Carney Complex Variant [MESH:C563845] (10)
 Neoplasms, Bone Tissue [MESH:D018213] (2217) 
 Osteosarcoma [MESH:D012516] (2175)
 Neoplasms, Fibrous Tissue [MESH:D018218] (1720) 
 Solitary Fibrous Tumors [MESH:D054364] (79)
 Fibrosarcoma [MESH:D005354] (90) 
 Neurofibrosarcoma [MESH:D018319] (44)
 Neoplasms, Muscle Tissue [MESH:D009379] (1965) 
 Leiomyoma [MESH:D007889] (744)
 Myosarcoma [MESH:D009217] (790) 
 Rhabdomyosarcoma [MESH:D012208] (789)
 Perivascular Epithelioid Cell Neoplasms [MESH:D054973] (165) 
 Lymphangioleiomyomatosis [MESH:D018192] (162)
 Sarcoma [MESH:D012509] (4246) 
 Carcinosarcoma [MESH:D002296] (581)
 Hemangiosarcoma [MESH:D006394] (1836)
 Osteosarcoma [MESH:D012516] (2175)
 Sarcoma, Synovial [MESH:D013584] (993)
 Chondrosarcoma [MESH:D002813] (1217) 
 Chondrosarcoma, Mesenchymal [MESH:D018211] (1161)
 Fibrosarcoma [MESH:D005354] (90) 
 Neurofibrosarcoma [MESH:D018319] (44)
 Liposarcoma [MESH:D008080] (612) 
 Liposarcoma, Myxoid [MESH:D018208] (358)
 Myosarcoma [MESH:D009217] (790) 
 Rhabdomyosarcoma [MESH:D012208] (789)
 Sarcoma, Kaposi [MESH:D012514] (1578) 
 AIDS-related Kaposi sarcoma [MESH:C554498] (914)
 Neoplasms, Germ Cell and Embryonal [MESH:D009373] (5126) 
 Neuroectodermal Tumors [MESH:D017599] (5066) 
 Neoplasms, Neuroepithelial [MESH:D018302] (4487) 
 Retinoblastoma [MESH:D012175] (319)
 Glioma [MESH:D005910] (4261) 
 Gliosarcoma [MESH:D018316] (880)
 Medulloblastoma [MESH:D008527] (1282)
 Oligodendroglioma [MESH:D009837] (241)
 Astrocytoma [MESH:D001254] (2692) 
 Glioblastoma [MESH:D005909] (2554)
 Neuroectodermal Tumors, Primitive [MESH:D018242] (2005) 
 Medulloblastoma [MESH:D008527] (1282)
 Neuroectodermal Tumors, Primitive, Peripheral [MESH:D018241] (1433) 
 Neuroblastoma [MESH:D009447] (1420)
 Neuroendocrine Tumors [MESH:D018358] (3633) 
 Melanoma [MESH:D008545] (3508)
 Paraganglioma [MESH:D010235] (297) 
 Pheochromocytoma [MESH:D010673] (275)
 Neoplasms, Glandular and Epithelial [MESH:D009375] (7760) 
 Ovarian epithelial cancer [MESH:C538090] (57)
 Adenoma [MESH:D000236] (4051) 
 ACTH-Secreting Pituitary Adenoma [MESH:D049913] (169)
 Growth Hormone-Secreting Pituitary Adenoma [MESH:D049912] (383)
 Mesothelioma [MESH:D008654] (2567)
 Prolactinoma [MESH:D015175] (312)
 Carcinoma [MESH:D002277] (7263) 
 Pancreatic cancer, adult [MESH:C535836] (572)
 Thyroid cancer, papillary [MESH:C536915] (111)
 Carcinoma, Small Cell [MESH:D018288] (1317)
 Carcinoma, Transitional Cell [MESH:D002295] (2662)
 Adenocarcinoma [MESH:D000230] (6565) 
 Adenocarcinoma of lung [MESH:C538231] (1487)
 Adenocarcinoma Of Esophagus [MESH:C562730] (1530)
 Adenocarcinoma, Clear Cell [MESH:D018262] (1291)
 Carcinoma, Adenoid Cystic [MESH:D003528] (1561)
 Carcinoma, Hepatocellular [MESH:D006528] (5375)
 Carcinoma, Lobular [MESH:D018275] (305)
 Carcinoma, Renal Cell [MESH:D002292] (2975)
 Cholangiocarcinoma [MESH:D018281] (2398)
 Adenocarcinoma, Follicular [MESH:D018263] (677) 
 Thyroid cancer, follicular [MESH:C572845] (674)
 Adrenocortical Carcinoma [MESH:D018268] (821) 
 Adrenocortical Carcinoma, Hereditary [MESH:C565972] (769)
 Carcinoma, Ductal [MESH:D044584] (1786) 
 Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)
 Carcinoma, Basal Cell [MESH:D002280] (1628) 
 Basal Cell Nevus Syndrome [MESH:D001478] (67)
 Carcinoma in Situ [MESH:D002278] (2111) 
 Prostatic Intraepithelial Neoplasia [MESH:D019048] (1565)
 Carcinoma, Squamous Cell [MESH:D002294] (4294) 
 Carcinoma, squamous cell of head and neck [MESH:C535575] (1543)
 Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)
 Bowen's Disease [MESH:D001913] (247)
 Neoplasms, Basal Cell [MESH:D018295] (1707) 
 Carcinoma, Basal Cell [MESH:D002280] (1628) 
 Basal Cell Nevus Syndrome [MESH:D001478] (67)
 Neoplasms, Ductal, Lobular, and Medullary [MESH:D018299] (1831) 
 Carcinoma, Lobular [MESH:D018275] (305)
 Carcinoma, Ductal [MESH:D044584] (1786) 
 Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)
 Neoplasms, Mesothelial [MESH:D018301] (2569) 
 Mesothelioma [MESH:D008654] (2567)
 Neoplasms, Neuroepithelial [MESH:D018302] (4487) 
 Retinoblastoma [MESH:D012175] (319)
 Glioma [MESH:D005910] (4261) 
 Gliosarcoma [MESH:D018316] (880)
 Medulloblastoma [MESH:D008527] (1282)
 Oligodendroglioma [MESH:D009837] (241)
 Astrocytoma [MESH:D001254] (2692) 
 Glioblastoma [MESH:D005909] (2554)
 Neuroectodermal Tumors, Primitive [MESH:D018242] (2005) 
 Medulloblastoma [MESH:D008527] (1282)
 Neuroectodermal Tumors, Primitive, Peripheral [MESH:D018241] (1433) 
 Neuroblastoma [MESH:D009447] (1420)
 Neoplasms, Squamous Cell [MESH:D018307] (4457) 
 Papilloma [MESH:D010212] (2243)
 Carcinoma, Squamous Cell [MESH:D002294] (4294) 
 Carcinoma, squamous cell of head and neck [MESH:C535575] (1543)
 Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)
 Bowen's Disease [MESH:D001913] (247)
 Neoplasms, Nerve Tissue [MESH:D009380] (5201) 
 Meningioma [MESH:D008579] (978)
 Nerve Sheath Neoplasms [MESH:D018317] (365) 
 Neurofibrosarcoma [MESH:D018319] (44)
 Neurofibroma [MESH:D009455] (177) 
 Neurofibrosarcoma [MESH:D018319] (44)
 Neuroectodermal Tumors [MESH:D017599] (5059) 
 Neoplasms, Neuroepithelial [MESH:D018302] (4487) 
 Retinoblastoma [MESH:D012175] (319)
 Glioma [MESH:D005910] (4261) 
 Gliosarcoma [MESH:D018316] (880)
 Medulloblastoma [MESH:D008527] (1282)
 Oligodendroglioma [MESH:D009837] (241)
 Astrocytoma [MESH:D001254] (2692) 
 Glioblastoma [MESH:D005909] (2554)
 Neuroectodermal Tumors, Primitive [MESH:D018242] (2005) 
 Medulloblastoma [MESH:D008527] (1282)
 Neuroectodermal Tumors, Primitive, Peripheral [MESH:D018241] (1433) 
 Neuroblastoma [MESH:D009447] (1420)
 Neuroendocrine Tumors [MESH:D018358] (3625) 
 Melanoma [MESH:D008545] (3508)
 Paraganglioma [MESH:D010235] (297) 
 Pheochromocytoma [MESH:D010673] (275)
 Neoplasms, Plasma Cell [MESH:D054219] (2772) 
 Multiple Myeloma [MESH:D009101] (2767)
 Neoplasms, Vascular Tissue [MESH:D009383] (2959) 
 Hemangiosarcoma [MESH:D006394] (1836)
 Meningioma [MESH:D008579] (978)
 Hemangioma [MESH:D006391] (690) 
 Sturge-Weber Syndrome [MESH:D013341] (76)
 Sarcoma, Kaposi [MESH:D012514] (1578) 
 AIDS-related Kaposi sarcoma [MESH:C554498] (914)
 Nevi and Melanomas [MESH:D018326] (3572) 
 Melanoma [MESH:D008545] (3508)
 Neoplasms by Site [MESH:D009371] (9169) 
 Bone Neoplasms [MESH:D001859] (1334)
 Soft Tissue Neoplasms [MESH:D012983] (2003)
 Breast Neoplasms [MESH:D001943] (6077) 
 Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)
 Digestive System Neoplasms [MESH:D004067] (7487) 
 Biliary Tract Neoplasms [MESH:D001661] (1165) 
 Gallbladder Neoplasms [MESH:D005706] (993)
 Gastrointestinal Neoplasms [MESH:D005770] (6452) 
 Stomach Neoplasms [MESH:D013274] (4942)
 Esophageal Neoplasms [MESH:D004938] (3737) 
 Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)
 Adenocarcinoma Of Esophagus [MESH:C562730] (1530)
 Intestinal Neoplasms [MESH:D007414] (5358) 
 Cecal Neoplasms [MESH:D002430] (822)
 Colorectal Neoplasms [MESH:D015179] (5294) 
 Colonic Neoplasms [MESH:D003110] (4405)
 Rectal Neoplasms [MESH:D012004] (717)
 Liver Neoplasms [MESH:D008113] (6048) 
 Carcinoma, Hepatocellular [MESH:D006528] (5375)
 Liver Neoplasms, Experimental [MESH:D008114] (2837)
 Pancreatic Neoplasms [MESH:D010190] (3820) 
 Pancreatic cancer, adult [MESH:C535836] (572)
 Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)
 Endocrine Gland Neoplasms [MESH:D004701] (4925) 
 Testicular Neoplasms [MESH:D013736] (520)
 Adrenal Gland Neoplasms [MESH:D000310] (917) 
 Adrenal Cortex Neoplasms [MESH:D000306] (823) 
 Adrenocortical Carcinoma [MESH:D018268] (821) 
 Adrenocortical Carcinoma, Hereditary [MESH:C565972] (769)
 Ovarian Neoplasms [MESH:D010051] (3275) 
 Ovarian epithelial cancer [MESH:C538090] (57)
 Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)
 Pancreatic Neoplasms [MESH:D010190] (3820) 
 Pancreatic cancer, adult [MESH:C535836] (572)
 Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)
 Pituitary Neoplasms [MESH:D010911] (981) 
 ACTH-Secreting Pituitary Adenoma [MESH:D049913] (172)
 Growth Hormone-Secreting Pituitary Adenoma [MESH:D049912] (383)
 Prolactinoma [MESH:D015175] (312)
 Thyroid Neoplasms [MESH:D013964] (2040) 
 Thyroid cancer, papillary [MESH:C536915] (111)
 Eye Neoplasms [MESH:D005134] (400) 
 Retinal Neoplasms [MESH:D019572] (320) 
 Retinoblastoma [MESH:D012175] (319)
 Head and Neck Neoplasms [MESH:D006258] (4612) 
 Carcinoma, squamous cell of head and neck [MESH:C535575] (1543)
 Esophageal Neoplasms [MESH:D004938] (3737) 
 Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)
 Adenocarcinoma Of Esophagus [MESH:C562730] (1530)
 Mouth Neoplasms [MESH:D009062] (2263) 
 Salivary Gland Neoplasms [MESH:D012468] (968)
 Otorhinolaryngologic Neoplasms [MESH:D010039] (1557) 
 Pharyngeal Neoplasms [MESH:D010610] (1520) 
 Nasopharyngeal Neoplasms [MESH:D009303] (1500) 
 Nasopharyngeal carcinoma [MESH:C538339] (1198)
 Thyroid Neoplasms [MESH:D013964] (2040) 
 Thyroid cancer, papillary [MESH:C536915] (111)
 Mammary Neoplasms, Animal [MESH:D015674] (3404) 
 Mammary Neoplasms, Experimental [MESH:D008325] (3268)
 Nervous System Neoplasms [MESH:D009423] (3130) 
 Central Nervous System Neoplasms [MESH:D016543] (3055) 
 Brain Neoplasms [MESH:D001932] (2764) 
 Cerebral Ventricle Neoplasms [MESH:D002551] (772) 
 Choroid Plexus Neoplasms [MESH:D016545] (771) 
 Papilloma, Choroid Plexus [MESH:D020288] (769)
 Supratentorial Neoplasms [MESH:D015173] (930) 
 Hypothalamic Neoplasms [MESH:D007029] (922) 
 Pituitary Neoplasms [MESH:D010911] (914)
 Meningeal Neoplasms [MESH:D008577] (984) 
 Meningioma [MESH:D008579] (978)
 Skin Neoplasms [MESH:D012878] (2992) 
 Sebaceous Gland Neoplasms [MESH:D012626] (154)
 Thoracic Neoplasms [MESH:D013899] (6032) 
 Heart Neoplasms [MESH:D006338] (47) 
 Carney Complex [MESH:D056733] (45) 
 Carney Complex Variant [MESH:C563845] (10)
 Respiratory Tract Neoplasms [MESH:D012142] (6020) 
 Lung Neoplasms [MESH:D008175] (6015) 
 Adenocarcinoma of lung [MESH:C538231] (1487)
 Bronchial Neoplasms [MESH:D001984] (3608) 
 Carcinoma, Bronchogenic [MESH:D002283] (3606) 
 Carcinoma, Non-Small-Cell Lung [MESH:D002289] (3540)
 Small Cell Lung Carcinoma [MESH:D055752] (1380)
 Urogenital Neoplasms [MESH:D014565] (7002) 
 Genital Neoplasms, Female [MESH:D005833] (2540) 
 Uterine Neoplasms [MESH:D014594] (2431) 
 Endometrial Neoplasms [MESH:D016889] (1987)
 Genital Neoplasms, Male [MESH:D005834] (6224) 
 Penile Neoplasms [MESH:D010412] (890)
 Testicular Neoplasms [MESH:D013736] (520)
 Prostatic Neoplasms [MESH:D011471] (6135) 
 Prostate Cancer, Hereditary, 13 [MESH:C567456] (35)
 Urologic Neoplasms [MESH:D014571] (5315) 
 Ureteral Neoplasms [MESH:D014516] (574)
 Urinary Bladder Neoplasms [MESH:D001749] (4079)
 Kidney Neoplasms [MESH:D007680] (3966) 
 Carcinoma, Renal Cell [MESH:D002292] (2975)
 Wilms Tumor [MESH:D009396] (553) 
 Denys-Drash Syndrome [MESH:D030321] (57)
 WAGR Syndrome [MESH:D017624] (270)
 Neoplasms, Experimental [MESH:D009374] (5218) 
 Liver Neoplasms, Experimental [MESH:D008114] (2837)
 Mammary Neoplasms, Experimental [MESH:D008325] (3268)
 Tumor Virus Infections [MESH:D014412] (697) 
 Epstein-Barr Virus Infections [MESH:D020031] (693) 
 Burkitt Lymphoma [MESH:D002051] (691)
 Neoplasms, Multiple Primary [MESH:D009378] (961) 
 Hamartoma Syndrome, Multiple [MESH:D006223] (262)
 Neoplastic Processes [MESH:D009385] (5317) 
 Neoplasm Invasiveness [MESH:D009361] (3388)
 Neoplasm Metastasis [MESH:D009362] (4441)
 Neoplasm Recurrence, Local [MESH:D009364] (1949)
 Neoplasm, Residual [MESH:D018365] (478)
 Carcinogenesis [MESH:D063646] (3391) 
 Cell Transformation, Neoplastic [MESH:D002471] (3389)
 Neoplastic Syndromes, Hereditary [MESH:D009386] (2578) 
 Basal Cell Nevus Syndrome [MESH:D001478] (67)
 Hamartoma Syndrome, Multiple [MESH:D006223] (260)
 Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)
 Li-Fraumeni Syndrome [MESH:D016864] (859)
 Wilms Tumor [MESH:D009396] (553) 
 Denys-Drash Syndrome [MESH:D030321] (57)
 WAGR Syndrome [MESH:D017624] (270)
 Tumor Virus Infections [MESH:D014412] (759) 
 Epstein-Barr Virus Infections [MESH:D020031] (693) 
 Burkitt Lymphoma [MESH:D002051] (691)
 Warts [MESH:D014860] (167) 
 WHIM syndrome [MESH:C536697] (148)
C05. Musculoskeletal Diseases 
C05. Musculoskeletal Diseases
 Musculoskeletal Diseases [MESH:D009140] (8705) 
 Bone Diseases [MESH:D001847] (5801) 
 Bone Neoplasms [MESH:D001859] (1334)
 Osteitis Deformans [MESH:D010001] (287)
 Bone Diseases, Developmental [MESH:D001848] (3315) 
 Acromicric dysplasia [MESH:C535662] (520)
 Basal Cell Nevus Syndrome [MESH:D001478] (67)
 Marfan Syndrome [MESH:D008382] (646)
 Acro-Osteolysis [MESH:D030981] (548) 
 Mandibuloacral dysplasia with type A lipodystrophy [MESH:C535705] (490)
 Keratosis palmoplantaris with periodontopathia and onychogryposis [MESH:C537627] (73)
 Dwarfism [MESH:D004392] (778) 
 Parastremmatic dwarfism [MESH:C537172] (39)
 Metatropic dwarfism [MESH:C537356] (39)
 Isolated Growth Hormone Deficiency, Type IB [MESH:C567564] (140)
 Congenital Hypothyroidism [MESH:D003409] (266) 
 Hypothyroidism, Congenital, Nongoitrous, 2 [MESH:C566852] (30)
 Dysostoses [MESH:D004413] (1019) 
 Craniofacial Dysostosis [MESH:D003394] (391)
 Synostosis [MESH:D013580] (817) 
 Antley-Bixler Syndrome Phenotype [MESH:D054882] (284)
 Craniosynostoses [MESH:D003398] (438) 
 Jackson-Weiss syndrome [MESH:C537559] (149)
 Cutis Gyrata Syndrome of Beare And Stevenson [MESH:C565129] (85)
 Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (85)
 Acrocephalosyndactylia [MESH:D000168] (201) 
 Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149)
 Syndactyly [MESH:D013576] (487) 
 Zlotogora-Ogur syndrome [MESH:C536726] (25)
 Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)
 Rosselli-Gulienetti Syndrome [MESH:C563117] (25)
 Acrocephalosyndactylia [MESH:D000168] (201) 
 Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149)
 Osteochondrodysplasias [MESH:D010009] (2440) 
 Spondylometaphyseal dysplasia, Kozlowski type [MESH:C535797] (118)
 Metatropic dwarfism [MESH:C537356] (39)
 Brachyolmia Type 3 [MESH:C562963] (39)
 Metaphyseal Anadysplasia 2 [MESH:C567771] (452)
 Camurati-Engelmann Syndrome [MESH:D003966] (492)
 Cleidocranial Dysplasia [MESH:D002973] (129)
 Chondrodysplasia Punctata [MESH:D002806] (108) 
 Chondrodysplasia Punctata, Rhizomelic [MESH:D018902] (53) 
 Rhizomelic chondrodysplasia punctata, type 3 [MESH:C537608] (26)
 Fibrous Dysplasia of Bone [MESH:D005357] (737) 
 Fibrous Dysplasia, Polyostotic [MESH:D005359] (82)
 Osteogenesis Imperfecta [MESH:D010013] (481) 
 Osteogenesis imperfecta, type 2A [MESH:C536042] (375)
 Osteogenesis imperfecta, type 3 [MESH:C536044] (375)
 Osteogenesis imperfecta, type 4 [MESH:C536045] (375)
 Osteogenesis Imperfecta, Type IX [MESH:C564921] (46)
 Bone Diseases, Endocrine [MESH:D001849] (747) 
 Acromegaly [MESH:D000172] (466)
 Congenital Hypothyroidism [MESH:D003409] (266) 
 Hypothyroidism, Congenital, Nongoitrous, 2 [MESH:C566852] (30)
 Bone Diseases, Metabolic [MESH:D001851] (3492) 
 Osseous Heteroplasia, Progressive [MESH:C562735] (82)
 Osteoporosis [MESH:D010024] (3037) 
 Osteoporosis, Postmenopausal [MESH:D015663] (2351)
 Pseudohypoparathyroidism [MESH:D011547] (88) 
 Albright's hereditary osteodystrophy [MESH:C537045] (82)
 Pseudohypoparathyroidism Type 1B [MESH:C548075] (82)
 Pseudopseudohypoparathyroidism [MESH:D011556] (82)
 Rickets [MESH:D012279] (341) 
 Rickets, Hypophosphatemic [MESH:D063730] (276) 
 Familial Hypophosphatemic Rickets [MESH:D053098] (274) 
 Vitamin D Hydroxylation-Deficient Rickets, Type 1A [MESH:C562688] (58)
 Hypophosphatemic Rickets, Autosomal Recessive, 2 [MESH:C567647] (48)
 Bone Resorption [MESH:D001862] (2352) 
 Osteolysis [MESH:D010014] (1787) 
 Acro-Osteolysis [MESH:D030981] (548) 
 Mandibuloacral dysplasia with type A lipodystrophy [MESH:C535705] (490)
 Keratosis palmoplantaris with periodontopathia and onychogryposis [MESH:C537627] (73)
 Spinal Diseases [MESH:D013122] (2485) 
 Intervertebral Disc Degeneration [MESH:D055959] (827) 
 Intervertebral disc disease [MESH:C535531] (514)
 Intervertebral Disc Displacement [MESH:D007405] (520) 
 Intervertebral disc disease [MESH:C535531] (514)
 Ossification of Posterior Longitudinal Ligament [MESH:D017887] (99) 
 Ossification of the posterior longitudinal ligament of the spine [MESH:C537143] (98)
 Spinal Curvatures [MESH:D013121] (742) 
 Kyphosis [MESH:D007738] (637) 
 Parastremmatic dwarfism [MESH:C537172] (39)
 Scoliosis [MESH:D012600] (194) 
 Parastremmatic dwarfism [MESH:C537172] (39)
 Spondylitis [MESH:D013166] (1924) 
 Spondylarthritis [MESH:D025241] (1912) 
 Spondylarthropathies [MESH:D025242] (1909) 
 Arthritis, Psoriatic [MESH:D015535] (1859)
 Spondylitis, Ankylosing [MESH:D013167] (431)
 Foot Deformities [MESH:D005530] (553) 
 Foot Deformities, Congenital [MESH:D005532] (538) 
 Jackson-Weiss syndrome [MESH:C537559] (149)
 Jaw Diseases [MESH:D007571] (1601) 
 Jaw Abnormalities [MESH:D007569] (1435) 
 Cleft Palate [MESH:D002972] (1330) 
 Zlotogora-Ogur syndrome [MESH:C536726] (25)
 Bamforth syndrome [MESH:C537901] (186)
 Rosselli-Gulienetti Syndrome [MESH:C563117] (25)
 Orofacial Cleft 5 [MESH:C563843] (38)
 Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65)
 Microtia, Hearing Impairment, And Cleft Palate [MESH:C567359] (30)
 Orofacial Cleft 11 [MESH:C567410] (101)
 Jaw Cysts [MESH:D007570] (74) 
 Odontogenic Cysts [MESH:D009807] (72) 
 Basal Cell Nevus Syndrome [MESH:D001478] (67)
 Mandibular Diseases [MESH:D008336] (395) 
 Craniomandibular Disorders [MESH:D017271] (33) 
 Craniometaphyseal Dysplasia, Autosomal Dominant [MESH:C565145] (20)
 Joint Diseases [MESH:D007592] (4657) 
 Arthralgia [MESH:D018771] (191)
 Ankylosis [MESH:D000844] (479) 
 Spondylitis, Ankylosing [MESH:D013167] (431)
 Arthritis [MESH:D001168] (4416) 
 Arthritis, Experimental [MESH:D001169] (3142)
 Arthritis, Juvenile [MESH:D001171] (1060)
 Arthritis, Psoriatic [MESH:D015535] (1859)
 Arthritis, Rheumatoid [MESH:D001172] (3603)
 Osteoarthritis [MESH:D010003] (1743)
 Chondrocalcinosis [MESH:D002805] (213) 
 Chondrocalcinosis 2 [MESH:C563162] (20)
 Spondylarthritis [MESH:D025241] (1912) 
 Spondylarthropathies [MESH:D025242] (1909) 
 Arthritis, Psoriatic [MESH:D015535] (1859)
 Spondylitis, Ankylosing [MESH:D013167] (431)
 Arthrogryposis [MESH:D001176] (329) 
 Arthrogryposis renal dysfunction cholestasis syndrome [MESH:C535382] (23)
 Hecht syndrome [MESH:C535857] (10)
 Distal arthrogryposis type 2B [MESH:C538400] (85)
 Muscular Diseases [MESH:D009135] (4071) 
 VLCAD deficiency [MESH:C536353] (55)
 Systemic carnitine deficiency [MESH:C536778] (92)
 Myopathy, Myosin Storage [MESH:C564253] (77)
 Muscle Rigidity [MESH:D009127] (617)
 Muscle Weakness [MESH:D018908] (478)
 Arthrogryposis [MESH:D001176] (329) 
 Arthrogryposis renal dysfunction cholestasis syndrome [MESH:C535382] (23)
 Hecht syndrome [MESH:C535857] (10)
 Distal arthrogryposis type 2B [MESH:C538400] (85)
 Craniomandibular Disorders [MESH:D017271] (33) 
 Craniometaphyseal Dysplasia, Autosomal Dominant [MESH:C565145] (20)
 Muscular Disorders, Atrophic [MESH:D020966] (1598) 
 Muscular Dystrophies [MESH:D009136] (1593) 
 Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency [MESH:C567709] (41)
 Glycogen Storage Disease Type VII [MESH:D006014] (37)
 Muscular Dystrophy, Duchenne [MESH:D020388] (942)
 Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854)
 Distal Myopathies [MESH:D049310] (178) 
 Distal myopathy, Nonaka type [MESH:C536816] (40)
 Muscular Dystrophies, Limb-Girdle [MESH:D049288] (259) 
 Limb-girdle muscular dystrophy type 2A [MESH:C535895] (14)
 Myositis [MESH:D009220] (2071) 
 Polymyositis [MESH:D017285] (2007)
 Myositis, Inclusion Body [MESH:D018979] (103) 
 Inclusion body myopathy autosomal recessive [MESH:C538329] (40)
 Musculoskeletal Abnormalities [MESH:D009139] (3796) 
 Arthrogryposis [MESH:D001176] (329) 
 Arthrogryposis renal dysfunction cholestasis syndrome [MESH:C535382] (23)
 Hecht syndrome [MESH:C535857] (10)
 Distal arthrogryposis type 2B [MESH:C538400] (85)
 Craniofacial Abnormalities [MESH:D019465] (3098) 
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Cleidocranial Dysplasia [MESH:D002973] (129)
 Costello Syndrome [MESH:D056685] (407)
 Craniofacial Dysostosis [MESH:D003394] (391)
 Microcephaly [MESH:D008831] (700)
 22q11 Deletion Syndrome [MESH:D058165] (237) 
 DiGeorge Syndrome [MESH:D004062] (236)
 Craniosynostoses [MESH:D003398] (438) 
 Jackson-Weiss syndrome [MESH:C537559] (149)
 Cutis Gyrata Syndrome of Beare And Stevenson [MESH:C565129] (85)
 Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (85)
 Acrocephalosyndactylia [MESH:D000168] (201) 
 Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149)
 Holoprosencephaly [MESH:D016142] (218) 
 Holoprosencephaly 7 [MESH:C563660] (46)
 Holoprosencephaly 3 [MESH:C564181] (50)
 LEOPARD Syndrome [MESH:D044542] (299) 
 LEOPARD syndrome, 2 [MESH:C537117] (169)
 Maxillofacial Abnormalities [MESH:D019767] (1447) 
 Jaw Abnormalities [MESH:D007569] (1438) 
 Cleft Palate [MESH:D002972] (1330) 
 Zlotogora-Ogur syndrome [MESH:C536726] (25)
 Bamforth syndrome [MESH:C537901] (186)
 Rosselli-Gulienetti Syndrome [MESH:C563117] (25)
 Orofacial Cleft 5 [MESH:C563843] (38)
 Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65)
 Microtia, Hearing Impairment, And Cleft Palate [MESH:C567359] (30)
 Orofacial Cleft 11 [MESH:C567410] (101)
 Retrognathia [MESH:D063173] (110) 
 Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (85)
 Noonan Syndrome [MESH:D009634] (506) 
 Noonan Syndrome 5 [MESH:C548083] (169)
 Noonan Syndrome 6 [MESH:C548084] (44)
 Plagiocephaly [MESH:D059041] (440) 
 Plagiocephaly, Nonsynostotic [MESH:D049068] (85)
 Craniosynostoses [MESH:D003398] (438) 
 Jackson-Weiss syndrome [MESH:C537559] (149)
 Cutis Gyrata Syndrome of Beare And Stevenson [MESH:C565129] (85)
 Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (85)
 Acrocephalosyndactylia [MESH:D000168] (201) 
 Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149)
 Limb Deformities, Congenital [MESH:D017880] (1813) 
 Acromicric dysplasia [MESH:C535662] (520)
 Microphthalmia, Syndromic 6 [MESH:C566440] (101)
 Metaphyseal Anadysplasia 2 [MESH:C567771] (452)
 Brachydactyly [MESH:D059327] (220)
 Lower Extremity Deformities, Congenital [MESH:D038061] (560) 
 Foot Deformities, Congenital [MESH:D005532] (538) 
 Jackson-Weiss syndrome [MESH:C537559] (149)
 Syndactyly [MESH:D013576] (487) 
 Zlotogora-Ogur syndrome [MESH:C536726] (25)
 Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)
 Rosselli-Gulienetti Syndrome [MESH:C563117] (25)
 Acrocephalosyndactylia [MESH:D000168] (201) 
 Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149)
 Synostosis [MESH:D013580] (817) 
 Antley-Bixler Syndrome Phenotype [MESH:D054882] (284)
 Craniosynostoses [MESH:D003398] (438) 
 Jackson-Weiss syndrome [MESH:C537559] (149)
 Cutis Gyrata Syndrome of Beare And Stevenson [MESH:C565129] (85)
 Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (85)
 Acrocephalosyndactylia [MESH:D000168] (201) 
 Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149)
 Syndactyly [MESH:D013576] (487) 
 Zlotogora-Ogur syndrome [MESH:C536726] (25)
 Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)
 Rosselli-Gulienetti Syndrome [MESH:C563117] (25)
 Acrocephalosyndactylia [MESH:D000168] (201) 
 Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149)
 Rheumatic Diseases [MESH:D012216] (4032) 
 Arthritis, Juvenile [MESH:D001171] (1060)
 Arthritis, Rheumatoid [MESH:D001172] (3603)
 Osteoarthritis [MESH:D010003] (1743)
C06. Digestive System Diseases 
C06. Digestive System Diseases
 Digestive System Diseases [MESH:D004066] (9461) 
 Biliary Tract Diseases [MESH:D001660] (3845) 
 Bile Duct Diseases [MESH:D001649] (3512) 
 Cholestasis [MESH:D002779] (3419) 
 Arthrogryposis renal dysfunction cholestasis syndrome [MESH:C535382] (23)
 Cholestasis, Intrahepatic [MESH:D002780] (1510) 
 Alagille Syndrome [MESH:D016738] (105)
 Liver Cirrhosis, Biliary [MESH:D008105] (1274)
 Biliary Tract Neoplasms [MESH:D001661] (1165) 
 Gallbladder Neoplasms [MESH:D005706] (993)
 Cholelithiasis [MESH:D002769] (373) 
 Gallstones [MESH:D042882] (350)
 Gallbladder Diseases [MESH:D005705] (1215) 
 Gallbladder Neoplasms [MESH:D005706] (993)
 Cholecystolithiasis [MESH:D041761] (353) 
 Gallstones [MESH:D042882] (350)
 Digestive System Abnormalities [MESH:D004065] (2127) 
 Currarino triad [MESH:C536221] (47)
 Hirschsprung Disease [MESH:D006627] (361)
 Anus, Imperforate [MESH:D001006] (140) 
 VATER association [MESH:C536534] (46)
 Digestive System Fistula [MESH:D016154] (102) 
 Esophageal Fistula [MESH:D004937] (89) 
 Tracheoesophageal Fistula [MESH:D014138] (88)
 Digestive System Neoplasms [MESH:D004067] (7493) 
 Biliary Tract Neoplasms [MESH:D001661] (1165) 
 Gallbladder Neoplasms [MESH:D005706] (993)
 Gastrointestinal Neoplasms [MESH:D005770] (6460) 
 Stomach Neoplasms [MESH:D013274] (4942)
 Esophageal Neoplasms [MESH:D004938] (3737) 
 Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)
 Adenocarcinoma Of Esophagus [MESH:C562730] (1530)
 Intestinal Neoplasms [MESH:D007414] (5359) 
 Cecal Neoplasms [MESH:D002430] (822)
 Colorectal Neoplasms [MESH:D015179] (5294) 
 Colonic Neoplasms [MESH:D003110] (4405)
 Rectal Neoplasms [MESH:D012004] (717)
 Liver Neoplasms [MESH:D008113] (6048) 
 Carcinoma, Hepatocellular [MESH:D006528] (5375)
 Liver Neoplasms, Experimental [MESH:D008114] (2837)
 Pancreatic Neoplasms [MESH:D010190] (3820) 
 Pancreatic cancer, adult [MESH:C535836] (572)
 Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)
 Gastrointestinal Diseases [MESH:D005767] (7443) 
 Gastrointestinal Hemorrhage [MESH:D006471] (815)
 Esophageal Diseases [MESH:D004935] (4255) 
 Esophageal Fistula [MESH:D004937] (89) 
 Tracheoesophageal Fistula [MESH:D014138] (88)
 Esophageal Neoplasms [MESH:D004938] (3737) 
 Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)
 Adenocarcinoma Of Esophagus [MESH:C562730] (1530)
 Gastroenteritis [MESH:D005759] (4066) 
 Appendicitis [MESH:D001064] (774)
 Mucositis [MESH:D052016] (1238)
 Colitis [MESH:D003092] (3199) 
 Colitis, Ulcerative [MESH:D003093] (2601)
 Enteritis [MESH:D004751] (157) 
 Ileitis [MESH:D007079] (137)
 Enterocolitis [MESH:D004760] (1536) 
 Enterocolitis, Necrotizing [MESH:D020345] (1367)
 Inflammatory Bowel Diseases [MESH:D015212] (3492) 
 Colitis, Ulcerative [MESH:D003093] (2601)
 Crohn Disease [MESH:D003424] (2585)
 Gastrointestinal Neoplasms [MESH:D005770] (6460) 
 Stomach Neoplasms [MESH:D013274] (4942)
 Esophageal Neoplasms [MESH:D004938] (3737) 
 Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)
 Adenocarcinoma Of Esophagus [MESH:C562730] (1530)
 Intestinal Neoplasms [MESH:D007414] (5359) 
 Cecal Neoplasms [MESH:D002430] (822)
 Colorectal Neoplasms [MESH:D015179] (5294) 
 Colonic Neoplasms [MESH:D003110] (4405)
 Rectal Neoplasms [MESH:D012004] (717)
 Intestinal Diseases [MESH:D007410] (6206) 
 Mesenteric Vascular Occlusion [MESH:D008641] (147)
 Cecal Diseases [MESH:D002429] (1330) 
 Appendicitis [MESH:D001064] (774)
 Cecal Neoplasms [MESH:D002430] (822)
 Colonic Diseases [MESH:D003108] (5564) 
 Colitis [MESH:D003092] (3199) 
 Colitis, Ulcerative [MESH:D003093] (2601)
 Colonic Diseases, Functional [MESH:D003109] (439) 
 Irritable Bowel Syndrome [MESH:D043183] (429)
 Colorectal Neoplasms [MESH:D015179] (5282) 
 Colonic Neoplasms [MESH:D003110] (4405)
 Megacolon [MESH:D008531] (386) 
 Hirschsprung Disease [MESH:D006627] (361)
 Duodenal Diseases [MESH:D004378] (1982) 
 Peptic Ulcer [MESH:D010437] (1969) 
 Duodenal Ulcer [MESH:D004381] (1549)
 Enteritis [MESH:D004751] (157) 
 Ileitis [MESH:D007079] (137)
 Enterocolitis [MESH:D004760] (1536) 
 Enterocolitis, Necrotizing [MESH:D020345] (1367)
 Ileal Diseases [MESH:D007077] (143) 
 Ileitis [MESH:D007079] (137)
 Inflammatory Bowel Diseases [MESH:D015212] (3492) 
 Colitis, Ulcerative [MESH:D003093] (2601)
 Crohn Disease [MESH:D003424] (2585)
 Intestinal Neoplasms [MESH:D007414] (5359) 
 Cecal Neoplasms [MESH:D002430] (822)
 Colorectal Neoplasms [MESH:D015179] (5294) 
 Colonic Neoplasms [MESH:D003110] (4405)
 Rectal Neoplasms [MESH:D012004] (717)
 Malabsorption Syndromes [MESH:D008286] (492) 
 Celiac Disease [MESH:D002446] (340)
 Rectal Diseases [MESH:D012002] (4596) 
 Colorectal Neoplasms [MESH:D015179] (4534) 
 Rectal Neoplasms [MESH:D012004] (717)
 Peptic Ulcer [MESH:D010437] (3172) 
 Duodenal Ulcer [MESH:D004381] (1549)
 Stomach Ulcer [MESH:D013276] (2915)
 Stomach Diseases [MESH:D013272] (5325) 
 Stomach Neoplasms [MESH:D013274] (4942)
 Peptic Ulcer [MESH:D010437] (2994) 
 Stomach Ulcer [MESH:D013276] (2915)
 Liver Diseases [MESH:D008107] (8167) 
 Drug-Induced Liver Injury [MESH:D056486] (4936)
 Liver Diseases, Parasitic [MESH:D008109] (1009)
 Zellweger Syndrome [MESH:D015211] (182)
 Cholestasis, Intrahepatic [MESH:D002780] (1510) 
 Alagille Syndrome [MESH:D016738] (105)
 Liver Cirrhosis, Biliary [MESH:D008105] (1274)
 Fatty Liver [MESH:D005234] (3584) 
 Non-alcoholic Fatty Liver Disease [MESH:C541083] (1567)
 Hepatic Insufficiency [MESH:D048550] (2771) 
 Liver Failure [MESH:D017093] (2768) 
 Liver Failure, Acute [MESH:D017114] (2404)
 Hepatic Encephalopathy [MESH:D006501] (1795) 
 Combined Oxidative Phosphorylation Deficiency 1 [MESH:C563797] (24)
 Hepatitis [MESH:D006505] (3883) 
 Hepatitis, Alcoholic [MESH:D006519] (1613)
 Hepatitis, Chronic [MESH:D006521] (2071) 
 Hepatitis, Autoimmune [MESH:D019693] (1982)
 Hepatitis, Viral, Human [MESH:D006525] (1766) 
 Hepatitis C [MESH:D006526] (1627)
 Liver Cirrhosis [MESH:D008103] (5542) 
 Liver Cirrhosis, Alcoholic [MESH:D008104] (3066)
 Liver Cirrhosis, Biliary [MESH:D008105] (1274)
 Liver Cirrhosis, Experimental [MESH:D008106] (4589)
 Liver Diseases, Alcoholic [MESH:D008108] (3243) 
 Hepatitis, Alcoholic [MESH:D006519] (1613)
 Liver Cirrhosis, Alcoholic [MESH:D008104] (3066)
 Liver Neoplasms [MESH:D008113] (6048) 
 Carcinoma, Hepatocellular [MESH:D006528] (5375)
 Liver Neoplasms, Experimental [MESH:D008114] (2837)
 Porphyrias, Hepatic [MESH:D017094] (881) 
 Porphyria, Acute Intermittent [MESH:D017118] (61)
 Pancreatic Diseases [MESH:D010182] (4453) 
 Pancreatic Agenesis, Congenital [MESH:C564908] (44)
 Congenital Hyperinsulinism [MESH:D044903] (132)
 Cystic Fibrosis [MESH:D003550] (760)
 Pancreatic Neoplasms [MESH:D010190] (3820) 
 Pancreatic cancer, adult [MESH:C535836] (572)
 Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)
 Pancreatitis [MESH:D010195] (1924) 
 Pancreatitis, Chronic [MESH:D050500] (276) 
 Hereditary pancreatitis [MESH:C537262] (234)
 Tropical Calcific Pancreatitis [MESH:C564276] (33)
 Peritoneal Diseases [MESH:D010532] (1119) 
 Mesenteric Vascular Occlusion [MESH:D008641] (147)
 Peritoneal Fibrosis [MESH:D056627] (488)
C07. Stomatognathic Diseases 
C07. Stomatognathic Diseases
 Stomatognathic Diseases [MESH:D009057] (5348) 
 Jaw Diseases [MESH:D007571] (1608) 
 Jaw Abnormalities [MESH:D007569] (1435) 
 External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation [MESH:C566509] (71)
 Cleft Palate [MESH:D002972] (1330) 
 Zlotogora-Ogur syndrome [MESH:C536726] (25)
 Bamforth syndrome [MESH:C537901] (186)
 Rosselli-Gulienetti Syndrome [MESH:C563117] (25)
 Orofacial Cleft 5 [MESH:C563843] (38)
 Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65)
 Microtia, Hearing Impairment, And Cleft Palate [MESH:C567359] (30)
 Orofacial Cleft 11 [MESH:C567410] (101)
 PCI 5002 [MESH:C568608] (527)
 Jaw Cysts [MESH:D007570] (74) 
 Odontogenic Cysts [MESH:D009807] (72) 
 Basal Cell Nevus Syndrome [MESH:D001478] (67) 
 Aloi Tomasini Isaia syndrome [MESH:C537049] (44)
 Mandibular Diseases [MESH:D008336] (450) 
 Craniomandibular Disorders [MESH:D017271] (33) 
 Craniometaphyseal Dysplasia, Autosomal Dominant [MESH:C565145] (20)
 Retrognathia [MESH:D063173] (110) 
 Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (98)
 Mouth Diseases [MESH:D009059] (4783) 
 Behcet Syndrome [MESH:D001528] (1784)
 Mucositis [MESH:D052016] (1238)
 Oral Submucous Fibrosis [MESH:D009914] (2432)
 Lip Diseases [MESH:D008047] (924) 
 Cleft Lip [MESH:D002971] (914) 
 Rosselli-Gulienetti Syndrome [MESH:C563117] (25)
 Orofacial Cleft 5 [MESH:C563843] (38)
 Orofacial Cleft 11 [MESH:C567410] (101)
 PCI 5002 [MESH:C568608] (433)
 Mouth Abnormalities [MESH:D009056] (1383) 
 Contractures, Congenital, Torticollis, and Malignant Hyperthermia [MESH:C565679] (34)
 Cleft Lip [MESH:D002971] (914) 
 Rosselli-Gulienetti Syndrome [MESH:C563117] (25)
 Orofacial Cleft 5 [MESH:C563843] (38)
 Orofacial Cleft 11 [MESH:C567410] (101)
 PCI 5002 [MESH:C568608] (433)
 Cleft Palate [MESH:D002972] (1330) 
 Zlotogora-Ogur syndrome [MESH:C536726] (25)
 Bamforth syndrome [MESH:C537901] (186)
 Rosselli-Gulienetti Syndrome [MESH:C563117] (25)
 Orofacial Cleft 5 [MESH:C563843] (38)
 Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65)
 Microtia, Hearing Impairment, And Cleft Palate [MESH:C567359] (30)
 Orofacial Cleft 11 [MESH:C567410] (101)
 Opitz GBBB Syndrome, X-Linked [MESH:C567932] (535)
 Mouth Neoplasms [MESH:D009062] (2263) 
 Salivary Gland Neoplasms [MESH:D012468] (968) 
 Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia [MESH:C566352] (437)
 Periodontal Diseases [MESH:D010510] (1001) 
 Poikiloderma of Kindler [MESH:C536321] (64)
 Periodontitis [MESH:D010518] (843) 
 Periodontitis, Aggressive, 2 [MESH:C566946] (310)
 Aggressive Periodontitis [MESH:D010520] (74)
 Salivary Gland Diseases [MESH:D012466] (1213) 
 Aplasia of Lacrimal and Salivary Glands [MESH:C562407] (42)
 Salivary Gland Neoplasms [MESH:D012468] (968) 
 Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia [MESH:C566352] (437)
 Stomatitis [MESH:D013280] (1235) 
 Stevens-Johnson Syndrome [MESH:D013262] (1163)
 Pharyngeal Diseases [MESH:D010608] (1562) 
 Nasopharyngeal Diseases [MESH:D009302] (1508) 
 Nasopharyngeal Neoplasms [MESH:D009303] (1500) 
 Nasopharyngeal carcinoma [MESH:C538339] (1198)
 Nasopharyngeal teratoma with Dandy Walker diaphragmatic hernia [MESH:C538340] (365)
 Pharyngeal Neoplasms [MESH:D010610] (1520) 
 Nasopharyngeal Neoplasms [MESH:D009303] (1500) 
 Nasopharyngeal carcinoma [MESH:C538339] (1198)
 Nasopharyngeal teratoma with Dandy Walker diaphragmatic hernia [MESH:C538340] (365)
 Stomatognathic System Abnormalities [MESH:D018640] (1705) 
 Hypoglossia, Isolated [MESH:C567568] (57)
 Maxillofacial Abnormalities [MESH:D019767] (1447) 
 Jaw Abnormalities [MESH:D007569] (1438) 
 External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation [MESH:C566509] (71)
 Cleft Palate [MESH:D002972] (1330) 
 Zlotogora-Ogur syndrome [MESH:C536726] (25)
 Bamforth syndrome [MESH:C537901] (186)
 Rosselli-Gulienetti Syndrome [MESH:C563117] (25)
 Orofacial Cleft 5 [MESH:C563843] (38)
 Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65)
 Microtia, Hearing Impairment, And Cleft Palate [MESH:C567359] (30)
 Orofacial Cleft 11 [MESH:C567410] (101)
 Opitz GBBB Syndrome, X-Linked [MESH:C567932] (535)
 Retrognathia [MESH:D063173] (110) 
 Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (98)
 Mouth Abnormalities [MESH:D009056] (1383) 
 Contractures, Congenital, Torticollis, and Malignant Hyperthermia [MESH:C565679] (34)
 Cleft Lip [MESH:D002971] (914) 
 Rosselli-Gulienetti Syndrome [MESH:C563117] (25)
 Orofacial Cleft 5 [MESH:C563843] (38)
 Orofacial Cleft 11 [MESH:C567410] (101)
 Orofacial Cleft 12 [MESH:C567548] (434)
 Cleft Palate [MESH:D002972] (1330) 
 Zlotogora-Ogur syndrome [MESH:C536726] (25)
 Bamforth syndrome [MESH:C537901] (186)
 Rosselli-Gulienetti Syndrome [MESH:C563117] (25)
 Orofacial Cleft 5 [MESH:C563843] (38)
 Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65)
 Microtia, Hearing Impairment, And Cleft Palate [MESH:C567359] (30)
 Orofacial Cleft 11 [MESH:C567410] (101)
 Opitz GBBB Syndrome, X-Linked [MESH:C567932] (535)
 Tooth Abnormalities [MESH:D014071] (622) 
 Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)
 Tooth Agenesis, Selective, 6 [MESH:C567755] (154)
 Anodontia [MESH:D000848] (185) 
 Witkop syndrome [MESH:C536736] (38)
 Single upper central incisor [MESH:C537342] (50)
 Tooth Diseases [MESH:D014076] (742) 
 Tooth Abnormalities [MESH:D014071] (622) 
 Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)
 Tooth Agenesis, Selective, 6 [MESH:C567755] (154)
 Anodontia [MESH:D000848] (185) 
 Witkop syndrome [MESH:C536736] (38)
 Single upper central incisor [MESH:C537342] (50)
C08. Respiratory Tract Diseases 
C08. Respiratory Tract Diseases
 Z. Exceptions (1984) 
 Not Fully Specified [NFS] (1984)
 Respiratory Tract Diseases [MESH:D012140] (7881) 
 Bronchial Diseases [MESH:D001982] (4382) 
 Bronchial Hyperreactivity [MESH:D016535] (1357)
 Asthma [MESH:D001249] (4098) 
 Asthma, Aspirin-Induced [MESH:D055963] (1055)
 Bronchiectasis [MESH:D001987] (1792) 
 Bronchiectasis With Or Without Elevated Sweat Chloride 1 [MESH:C567618] (217)
 Bronchiectasis With Or Without Elevated Sweat Chloride 2 [MESH:C567813] (77)
 Lung Diseases [MESH:D008171] (7249) 
 Cystic Fibrosis [MESH:D003550] (760)
 Hypertension, Pulmonary [MESH:D006976] (2000)
 Pulmonary Embolism [MESH:D011655] (1118)
 Pulmonary Fibrosis [MESH:D011658] (3140)
 Respiratory Distress Syndrome, Adult [MESH:D012128] (864)
 Tuberculosis, Pulmonary [MESH:D014397] (678)
 Lung Diseases, Interstitial [MESH:D017563] (2966) 
 Surfactant Metabolism Dysfunction, Pulmonary, 1 [MESH:C566882] (102)
 Pneumoconiosis [MESH:D011009] (2789) 
 Asbestosis [MESH:D001195] (935)
 Berylliosis [MESH:D001607] (2005)
 Silicosis [MESH:D012829] (1273)
 Lung Diseases, Obstructive [MESH:D008173] (4697) 
 Asthma [MESH:D001249] (3903)
 Pulmonary Disease, Chronic Obstructive [MESH:D029424] (3564) 
 Pulmonary Emphysema [MESH:D011656] (1259)
 Lung Injury [MESH:D055370] (3688) 
 Acute Lung Injury [MESH:D055371] (1907)
 Pneumoconiosis [MESH:D011009] (2789) 
 Asbestosis [MESH:D001195] (935)
 Berylliosis [MESH:D001607] (2005)
 Silicosis [MESH:D012829] (1273)
 Lung Neoplasms [MESH:D008175] (6012) 
 Adenocarcinoma of lung [MESH:C538231] (1487)
 Carcinoma, Bronchogenic [MESH:D002283] (3606) 
 Carcinoma, Non-Small-Cell Lung [MESH:D002289] (3540)
 Small Cell Lung Carcinoma [MESH:D055752] (1380)
 Pneumonia [MESH:D011014] (3482) 
 Pneumonia, Aspiration [MESH:D011015] (824)
 Pneumonia, Viral [MESH:D011024] (125)
 Pulmonary Alveolar Proteinosis [MESH:D011649] (139) 
 Surfactant Metabolism Dysfunction, Pulmonary, 1 [MESH:C566882] (102)
 Nose Diseases [MESH:D009668] (1504) 
 Paranasal Sinus Diseases [MESH:D010254] (476) 
 Sinusitis [MESH:D012852] (469)
 Rhinitis [MESH:D012220] (1134) 
 Rhinitis, Allergic, Perennial [MESH:D012221] (625)
 Pleural Diseases [MESH:D010995] (2240) 
 Pleurisy [MESH:D010998] (2070)
 Respiration Disorders [MESH:D012120] (2218) 
 Cough [MESH:D003371] (179)
 Respiratory Distress Syndrome, Adult [MESH:D012128] (864)
 Apnea [MESH:D001049] (748) 
 Sleep Apnea Syndromes [MESH:D012891] (570)
 Hyperventilation [MESH:D006985] (654) 
 Pitt-Hopkins syndrome [MESH:C537403] (113)
 Respiratory Insufficiency [MESH:D012131] (841) 
 Hypoventilation [MESH:D007040] (360) 
 Perry Syndrome [MESH:C566822] (21)
 Respiratory Hypersensitivity [MESH:D012130] (4401) 
 Rhinitis, Allergic, Perennial [MESH:D012221] (625)
 Asthma [MESH:D001249] (4098) 
 Asthma, Aspirin-Induced [MESH:D055963] (1055)
 Respiratory Tract Fistula [MESH:D016156] (91) 
 Tracheoesophageal Fistula [MESH:D014138] (88)
 Respiratory Tract Infections [MESH:D012141] (3926) 
 Influenza, Human [MESH:D007251] (1075)
 Pleurisy [MESH:D010998] (2070)
 Rhinitis [MESH:D012220] (766)
 Severe Acute Respiratory Syndrome [MESH:D045169] (127)
 Sinusitis [MESH:D012852] (469)
 Tuberculosis, Pulmonary [MESH:D014397] (678)
 Pneumonia [MESH:D011014] (3482) 
 Pneumonia, Aspiration [MESH:D011015] (824)
 Pneumonia, Viral [MESH:D011024] (125)
 Respiratory Tract Neoplasms [MESH:D012142] (6053) 
 Lung Neoplasms [MESH:D008175] (6013) 
 Adenocarcinoma of lung [MESH:C538231] (1487)
 Bronchial Neoplasms [MESH:D001984] (3608) 
 Carcinoma, Bronchogenic [MESH:D002283] (3606) 
 Carcinoma, Non-Small-Cell Lung [MESH:D002289] (3540)
 Small Cell Lung Carcinoma [MESH:D055752] (1380)
 Tracheal Diseases [MESH:D014133] (107) 
 Tracheoesophageal Fistula [MESH:D014138] (88)
C09. Otorhinolaryngologic Diseases 
C09. Otorhinolaryngologic Diseases
 Otorhinolaryngologic Diseases [MESH:D010038] (3827) 
 Ear Diseases [MESH:D004427] (2522) 
 Hearing Disorders [MESH:D006311] (2103) 
 Hearing Loss [MESH:D034381] (2068) 
 Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)
 Microtia, Hearing Impairment, And Cleft Palate [MESH:C567359] (30)
 Deafness [MESH:D003638] (623) 
 Deaf-Blind Disorders [MESH:D054062] (132) 
 Usher Syndromes [MESH:D052245] (83) 
 Usher syndrome, type 1D [MESH:C536487] (23)
 Hearing Loss, Sensorineural [MESH:D006319] (1227) 
 Optic atrophy 1 and deafness [MESH:C537124] (30)
 Griscelli syndrome type 1 [MESH:C537301] (42)
 Deafness, Autosomal Recessive 12 [MESH:C563327] (46)
 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness [MESH:C563798] (43)
 Insulin-Like Growth Factor I Deficiency [MESH:C563867] (346)
 Deafness, Autosomal Dominant 44 [MESH:C564399] (18)
 Usher Syndromes [MESH:D052245] (83) 
 Usher syndrome, type 1D [MESH:C536487] (23)
 Labyrinth Diseases [MESH:D007759] (846) 
 Vestibular Diseases [MESH:D015837] (819)
 Nose Diseases [MESH:D009668] (1504) 
 Paranasal Sinus Diseases [MESH:D010254] (476) 
 Sinusitis [MESH:D012852] (469)
 Rhinitis [MESH:D012220] (1134) 
 Rhinitis, Allergic, Perennial [MESH:D012221] (625)
 Otorhinolaryngologic Neoplasms [MESH:D010039] (1561) 
 Pharyngeal Neoplasms [MESH:D010610] (1520) 
 Nasopharyngeal Neoplasms [MESH:D009303] (1500) 
 Nasopharyngeal carcinoma [MESH:C538339] (1198)
 Pharyngeal Diseases [MESH:D010608] (1605) 
 Nasopharyngeal Diseases [MESH:D009302] (1508) 
 Nasopharyngeal Neoplasms [MESH:D009303] (1500) 
 Nasopharyngeal carcinoma [MESH:C538339] (1198)
 Pharyngeal Neoplasms [MESH:D010610] (1520) 
 Nasopharyngeal Neoplasms [MESH:D009303] (1500) 
 Nasopharyngeal carcinoma [MESH:C538339] (1198)
C10. Nervous System Diseases 
C10. Nervous System Diseases
 Z. Exceptions (4027) 
 Not Fully Specified [NFS] (4027)
 Nervous System Diseases [MESH:D009422] (13325) 
 Autoimmune Diseases of the Nervous System [MESH:D020274] (2238) 
 Demyelinating Autoimmune Diseases, CNS [MESH:D020278] (1732) 
 Multiple Sclerosis [MESH:D009103] (1716)
 Autonomic Nervous System Diseases [MESH:D001342] (882) 
 Primary Dysautonomias [MESH:D054969] (775) 
 Orthostatic Intolerance [MESH:D054971] (720)
 Central Nervous System Diseases [MESH:D002493] (9745) 
 Endocrine-Cerebroosteodysplasia [MESH:C567210] (26)
 Brain Diseases [MESH:D001927] (9294) 
 Beta-Ureidopropionase Deficiency [MESH:C563210] (35)
 Brain Edema [MESH:D001929] (1165)
 Brain Injuries [MESH:D001930] (3429)
 Hypoxia, Brain [MESH:D002534] (134)
 Basal Ganglia Diseases [MESH:D001480] (4268) 
 Idiopathic basal ganglia calcification 1 [MESH:C536275] (139)
 Huntington Disease [MESH:D006816] (540)
 Supranuclear Palsy, Progressive [MESH:D013494] (235)
 Parkinsonian Disorders [MESH:D020734] (4009) 
 Perry Syndrome [MESH:C566822] (21)
 Parkinson Disease, Secondary [MESH:D010302] (327)
 Lewy Body Disease [MESH:D020961] (1143) 
 Parkinson Disease 4, Autosomal Dominant Lewy Body [MESH:C565324] (136)
 Parkinson Disease [MESH:D010300] (3595) 
 Parkinson Disease 7, Autosomal Recessive Early-Onset [MESH:C565238] (62)
 Parkinson Disease 4, Autosomal Dominant Lewy Body [MESH:C565324] (136)
 Brain Diseases, Metabolic [MESH:D001928] (3351) 
 Kernicterus [MESH:D007647] (256)
 Brain Diseases, Metabolic, Inborn [MESH:D020739] (2634) 
 Cerebral Amyloid Angiopathy, Familial [MESH:D028243] (377)
 Hyperglycinemia, Nonketotic [MESH:D020158] (67)
 Leigh Disease [MESH:D007888] (206)
 Maple Syrup Urine Disease [MESH:D008375] (127)
 Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497) 
 Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178)
 Canavan Disease [MESH:D017825] (29)
 Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636) 
 Sialic Acid Storage Disease [MESH:D029461] (63)
 Sphingolipidoses [MESH:D013106] (582) 
 Farber Lipogranulomatosis [MESH:D055577] (62)
 Gaucher Disease [MESH:D005776] (299)
 Peroxisomal Disorders [MESH:D018901] (1472) 
 Peroxisome biogenesis disorders [MESH:C536664] (101)
 Mevalonate Kinase Deficiency [MESH:D054078] (38)
 Refsum Disease, Infantile [MESH:D052919] (51)
 Zellweger Syndrome [MESH:D015211] (182)
 Phenylketonurias [MESH:D010661] (156) 
 Hyperphenylalaninemia, BH4-Deficient, B [MESH:C562656] (97)
 Urea Cycle Disorders, Inborn [MESH:D056806] (315) 
 Hyperargininemia [MESH:D020162] (109)
 Hepatic Encephalopathy [MESH:D006501] (1795) 
 Combined Oxidative Phosphorylation Deficiency 1 [MESH:C563797] (24)
 Brain Neoplasms [MESH:D001932] (2764) 
 Cerebral Ventricle Neoplasms [MESH:D002551] (772) 
 Choroid Plexus Neoplasms [MESH:D016545] (771) 
 Papilloma, Choroid Plexus [MESH:D020288] (769)
 Supratentorial Neoplasms [MESH:D015173] (930) 
 Hypothalamic Neoplasms [MESH:D007029] (922) 
 Pituitary Neoplasms [MESH:D010911] (914)
 Cerebellar Diseases [MESH:D002526] (736) 
 Cerebellar Ataxia [MESH:D002524] (542) 
 Spinocerebellar Ataxias [MESH:D020754] (406) 
 Spinocerebellar Ataxia 15 [MESH:C564685] (90)
 Machado-Joseph Disease [MESH:D017827] (37)
 Spinocerebellar Degenerations [MESH:D013132] (449) 
 Spinocerebellar Ataxia 29 [MESH:C537206] (90)
 Spinocerebellar Ataxias [MESH:D020754] (322) 
 Spinocerebellar Ataxia 15 [MESH:C564685] (90)
 Machado-Joseph Disease [MESH:D017827] (37)
 Cerebrovascular Disorders [MESH:D002561] (5542) 
 Brain Ischemia [MESH:D002545] (4873) 
 Ischemic Attack, Transient [MESH:D002546] (1313)
 Brain Infarction [MESH:D020520] (2571) 
 Cerebral Infarction [MESH:D002544] (2458) 
 Infarction, Middle Cerebral Artery [MESH:D020244] (2268)
 Carotid Artery Diseases [MESH:D002340] (1993) 
 Carotid Artery Thrombosis [MESH:D002341] (138)
 Cerebral Small Vessel Diseases [MESH:D059345] (1292) 
 Cerebral Amyloid Angiopathy, Familial [MESH:D028243] (377)
 Intracranial Arterial Diseases [MESH:D020765] (2463) 
 Cerebral Arterial Diseases [MESH:D002539] (2440) 
 Infarction, Middle Cerebral Artery [MESH:D020244] (2268)
 Cerebral Amyloid Angiopathy [MESH:D016657] (470) 
 Cerebral Amyloid Angiopathy, Familial [MESH:D028243] (377)
 Intracranial Hemorrhages [MESH:D020300] (3269) 
 Cerebral Hemorrhage [MESH:D002543] (2873)
 Pituitary Apoplexy [MESH:D010899] (125)
 Subarachnoid Hemorrhage [MESH:D013345] (1082)
 Stroke [MESH:D020521] (3702) 
 Brain Infarction [MESH:D020520] (2571) 
 Cerebral Infarction [MESH:D002544] (2458) 
 Infarction, Middle Cerebral Artery [MESH:D020244] (2268)
 Dementia [MESH:D003704] (4498) 
 Alzheimer Disease [MESH:D000544] (4275)
 Huntington Disease [MESH:D006816] (540)
 Frontotemporal Lobar Degeneration [MESH:D057174] (310) 
 Frontotemporal Dementia [MESH:D057180] (300)
 Lewy Body Disease [MESH:D020961] (1143) 
 Parkinson Disease 4, Autosomal Dominant Lewy Body [MESH:C565324] (136)
 Epilepsy [MESH:D004827] (6274) 
 Seizures [MESH:D012640] (4502)
 Status Epilepticus [MESH:D013226] (4014)
 Epilepsies, Myoclonic [MESH:D004831] (1344) 
 Myoclonic Epilepsies, Progressive [MESH:D020191] (1101)
 Myoclonic Epilepsy, Juvenile [MESH:D020190] (166)
 Epilepsies, Partial [MESH:D004828] (1267) 
 Epilepsy, Complex Partial [MESH:D017029] (43)
 Epilepsy, Temporal Lobe [MESH:D004833] (1108)
 Epilepsy, Frontal Lobe [MESH:D017034] (172) 
 Epilepsy, Nocturnal Frontal Lobe, Type 4 [MESH:C563679] (43)
 Epilepsy, Generalized [MESH:D004829] (1431) 
 Epilepsy, Tonic-Clonic [MESH:D004830] (1042)
 Spasms, Infantile [MESH:D013036] (468) 
 Epileptic encephalopathy, Lennox-Gastaut type [MESH:C535500] (70)
 Headache Disorders [MESH:D020773] (2337) 
 Headache Disorders, Primary [MESH:D051270] (2327) 
 Migraine Disorders [MESH:D008881] (2318) 
 Migraine without Aura [MESH:D020326] (408)
 Hypothalamic Diseases [MESH:D007027] (1833) 
 Bardet-Biedl Syndrome [MESH:D020788] (110)
 Hypothalamic Neoplasms [MESH:D007029] (922) 
 Pituitary Neoplasms [MESH:D010911] (914)
 Pituitary Diseases [MESH:D010900] (1808) 
 Isolated Growth Hormone Deficiency, Type IB [MESH:C567564] (140)
 Hypopituitarism [MESH:D007018] (732)
 Pituitary Apoplexy [MESH:D010899] (125)
 Hyperpituitarism [MESH:D006964] (1250) 
 Acromegaly [MESH:D000172] (466)
 Hyperprolactinemia [MESH:D006966] (603)
 Pituitary Neoplasms [MESH:D010911] (981) 
 ACTH-Secreting Pituitary Adenoma [MESH:D049913] (172)
 Growth Hormone-Secreting Pituitary Adenoma [MESH:D049912] (383)
 Prolactinoma [MESH:D015175] (312)
 Leukoencephalopathies [MESH:D056784] (1916) 
 Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497) 
 Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178)
 Canavan Disease [MESH:D017825] (29)
 Neuroaxonal Dystrophies [MESH:D019150] (100) 
 Neurodegeneration Due To Cerebral Folate Transport Deficiency [MESH:C567791] (53)
 Central Nervous System Infections [MESH:D002494] (1823) 
 Central Nervous System Viral Diseases [MESH:D020805] (1416) 
 Meningitis, Viral [MESH:D008587] (1308) 
 Meningitis, Aseptic [MESH:D008582] (1305)
 Meningitis [MESH:D008581] (1506) 
 Meningitis, Aseptic [MESH:D008582] (1305)
 Meningitis, Viral [MESH:D008587] (1308) 
 Meningitis, Aseptic [MESH:D008582] (1305)
 Movement Disorders [MESH:D009069] (4823) 
 Beta-Ureidopropionase Deficiency [MESH:C563210] (35)
 Angelman Syndrome [MESH:D017204] (124)
 Supranuclear Palsy, Progressive [MESH:D013494] (235)
 Tic Disorders [MESH:D013981] (256)
 Dyskinesias [MESH:D020820] (1827) 
 Dyskinesia, Drug-Induced [MESH:D004409] (1389)
 Chorea [MESH:D002819] (651) 
 Huntington Disease [MESH:D006816] (540)
 Dystonic Disorders [MESH:D020821] (729) 
 Segawa syndrome, autosomal recessive [MESH:C537537] (220)
 Dystonia 12 [MESH:C538001] (36)
 Dystonia, Dopa-responsive [MESH:C538007] (98)
 Torticollis [MESH:D014103] (80)
 Parkinsonian Disorders [MESH:D020734] (4009) 
 Perry Syndrome [MESH:C566822] (21)
 Parkinson Disease, Secondary [MESH:D010302] (327)
 Lewy Body Disease [MESH:D020961] (1143) 
 Parkinson Disease 4, Autosomal Dominant Lewy Body [MESH:C565324] (136)
 Parkinson Disease [MESH:D010300] (3595) 
 Parkinson Disease 7, Autosomal Recessive Early-Onset [MESH:C565238] (62)
 Parkinson Disease 4, Autosomal Dominant Lewy Body [MESH:C565324] (136)
 Spinal Cord Diseases [MESH:D013118] (4376) 
 Spinal Cord Compression [MESH:D013117] (1800)
 Spinal Cord Injuries [MESH:D013119] (1674)
 Amyotrophic Lateral Sclerosis [MESH:D000690] (3296) 
 Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559)
 Muscular Atrophy, Spinal [MESH:D009134] (850) 
 Neuronopathy, Distal Hereditary Motor, Type Viib [MESH:C564362] (21)
 Spinocerebellar Degenerations [MESH:D013132] (449) 
 Spinocerebellar Ataxia 29 [MESH:C537206] (90)
 Spinocerebellar Ataxias [MESH:D020754] (322) 
 Spinocerebellar Ataxia 15 [MESH:C564685] (90)
 Machado-Joseph Disease [MESH:D017827] (37)
 Syringomyelia [MESH:D013595] (50) 
 Currarino triad [MESH:C536221] (47)
 Chronobiology Disorders [MESH:D021081] (970) 
 Sleep Disorders, Circadian Rhythm [MESH:D020178] (93) 
 Advanced Sleep-Phase Syndrome, Familial [MESH:C565789] (82)
 Cranial Nerve Diseases [MESH:D003389] (2004) 
 Ocular Motility Disorders [MESH:D015835] (1697) 
 Duane Retraction Syndrome [MESH:D004370] (43)
 Ophthalmoplegia [MESH:D009886] (1468) 
 Fibrosis Of Extraocular Muscles, Congenital, 2 [MESH:C566587] (18)
 Supranuclear Palsy, Progressive [MESH:D013494] (235)
 Optic Nerve Diseases [MESH:D009901] (1375) 
 Optic Atrophy [MESH:D009896] (1203) 
 Optic Atrophies, Hereditary [MESH:D015418] (1151) 
 Optic atrophy 1 and deafness [MESH:C537124] (30)
 Optic Atrophy, Autosomal Dominant [MESH:D029241] (31)
 Demyelinating Diseases [MESH:D003711] (2917) 
 Demyelinating Autoimmune Diseases, CNS [MESH:D020278] (2035) 
 Multiple Sclerosis [MESH:D009103] (1716)
 Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497) 
 Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178)
 Canavan Disease [MESH:D017825] (29)
 Nervous System Malformations [MESH:D009421] (3354) 
 Microphthalmia, Syndromic 6 [MESH:C566440] (101)
 Agenesis of Corpus Callosum [MESH:D061085] (345) 
 Acrocallosal Syndrome [MESH:D055673] (43)
 Holoprosencephaly [MESH:D016142] (218) 
 Holoprosencephaly 7 [MESH:C563660] (46)
 Holoprosencephaly 3 [MESH:C564181] (50)
 Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899) 
 Charcot-Marie-Tooth Disease [MESH:D002607] (627) 
 Hereditary Motor And Sensory Neuropathy, Type IIC [MESH:C565261] (39)
 Spastic Paraplegia, Hereditary [MESH:D015419] (449) 
 Spastic paraplegia 13, autosomal dominant [MESH:C537485] (178)
 Malformations of Cortical Development [MESH:D054220] (1406) 
 Microcephaly [MESH:D008831] (700)
 Lissencephaly [MESH:D054082] (218) 
 Classical Lissencephalies and Subcortical Band Heterotopias [MESH:D054221] (114)
 Neuronal Migration Disorders [MESH:D054081] (264) 
 Classical Lissencephalies and Subcortical Band Heterotopias [MESH:D054221] (114)
 Neural Tube Defects [MESH:D009436] (2143) 
 Spinal Dysraphism [MESH:D016135] (1025)
 Encephalocele [MESH:D004677] (151) 
 Knobloch syndrome [MESH:C537209] (70)
 Nervous System Neoplasms [MESH:D009423] (3073) 
 Central Nervous System Neoplasms [MESH:D016543] (3055) 
 Brain Neoplasms [MESH:D001932] (2764) 
 Cerebral Ventricle Neoplasms [MESH:D002551] (772) 
 Choroid Plexus Neoplasms [MESH:D016545] (771) 
 Papilloma, Choroid Plexus [MESH:D020288] (769)
 Supratentorial Neoplasms [MESH:D015173] (930) 
 Hypothalamic Neoplasms [MESH:D007029] (922) 
 Pituitary Neoplasms [MESH:D010911] (914)
 Meningeal Neoplasms [MESH:D008577] (984) 
 Meningioma [MESH:D008579] (978)
 Peripheral Nervous System Neoplasms [MESH:D010524] (287) 
 Nerve Sheath Neoplasms [MESH:D018317] (286) 
 Neurofibroma [MESH:D009455] (47) 
 Neurofibrosarcoma [MESH:D018319] (44)
 Neurocutaneous Syndromes [MESH:D020752] (1230) 
 Sturge-Weber Syndrome [MESH:D013341] (76)
 von Hippel-Lindau Disease [MESH:D006623] (580)
 Neurodegenerative Diseases [MESH:D019636] (6613) 
 Idiopathic basal ganglia calcification 1 [MESH:C536275] (139)
 Heredodegenerative Disorders, Nervous System [MESH:D020271] (3243) 
 Canavan Disease [MESH:D017825] (29)
 Huntington Disease [MESH:D006816] (540)
 Rett Syndrome [MESH:D015518] (143)
 Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (241) 
 Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178)
 Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899) 
 Charcot-Marie-Tooth Disease [MESH:D002607] (627) 
 Hereditary Motor And Sensory Neuropathy, Type IIC [MESH:C565261] (39)
 Spastic Paraplegia, Hereditary [MESH:D015419] (449) 
 Spastic paraplegia 13, autosomal dominant [MESH:C537485] (178)
 Neuronal Ceroid-Lipofuscinoses [MESH:D009472] (1026) 
 Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)
 Ceroid Lipofuscinosis, Neuronal, 10 [MESH:C566438] (159)
 Ceroid Lipofuscinosis, Neuronal, 2 [MESH:C566857] (39)
 Optic Atrophies, Hereditary [MESH:D015418] (1151) 
 Optic atrophy 1 and deafness [MESH:C537124] (30)
 Optic Atrophy, Autosomal Dominant [MESH:D029241] (31)
 Spinocerebellar Degenerations [MESH:D013132] (449) 
 Spinocerebellar Ataxia 29 [MESH:C537206] (90)
 Spinocerebellar Ataxias [MESH:D020754] (322) 
 Spinocerebellar Ataxia 15 [MESH:C564685] (90)
 Machado-Joseph Disease [MESH:D017827] (37)
 Lewy Body Disease [MESH:D020961] (1143) 
 Parkinson Disease 4, Autosomal Dominant Lewy Body [MESH:C565324] (136)
 Motor Neuron Disease [MESH:D016472] (3670) 
 Amyotrophic Lateral Sclerosis [MESH:D000690] (3296) 
 Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559)
 Muscular Atrophy, Spinal [MESH:D009134] (850) 
 Neuronopathy, Distal Hereditary Motor, Type Viib [MESH:C564362] (21)
 Parkinson Disease [MESH:D010300] (3595) 
 Parkinson Disease 7, Autosomal Recessive Early-Onset [MESH:C565238] (62)
 Parkinson Disease 4, Autosomal Dominant Lewy Body [MESH:C565324] (136)
 Tauopathies [MESH:D024801] (4289) 
 Alzheimer Disease [MESH:D000544] (4275)
 Supranuclear Palsy, Progressive [MESH:D013494] (235)
 TDP-43 Proteinopathies [MESH:D057177] (3337) 
 Amyotrophic Lateral Sclerosis [MESH:D000690] (3296) 
 Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559)
 Frontotemporal Lobar Degeneration [MESH:D057174] (308) 
 Frontotemporal Dementia [MESH:D057180] (298)
 Neurologic Manifestations [MESH:D009461] (8964) 
 Neurogenic Inflammation [MESH:D020078] (2246)
 Paresis [MESH:D010291] (419)
 Seizures [MESH:D012640] (4514)
 Dyskinesias [MESH:D020820] (3365) 
 Catalepsy [MESH:D002375] (1429)
 Hyperkinesis [MESH:D006948] (1799)
 Hypokinesia [MESH:D018476] (279)
 Myoclonus [MESH:D009207] (427)
 Tics [MESH:D020323] (62)
 Tremor [MESH:D014202] (840)
 Ataxia [MESH:D001259] (1138) 
 Ataxia with vitamin E deficiency [MESH:C535393] (271)
 Cerebellar Ataxia [MESH:D002524] (542) 
 Spinocerebellar Ataxias [MESH:D020754] (406) 
 Spinocerebellar Ataxia 15 [MESH:C564685] (90)
 Machado-Joseph Disease [MESH:D017827] (37)
 Dystonia [MESH:D004421] (848) 
 Torticollis [MESH:D014103] (80)
 Neurobehavioral Manifestations [MESH:D019954] (5230) 
 Psychomotor Disorders [MESH:D011596] (576)
 Communication Disorders [MESH:D003147] (2918) 
 Learning Disorders [MESH:D007859] (2727)
 Consciousness Disorders [MESH:D003244] (680) 
 Unconsciousness [MESH:D014474] (660) 
 Coma [MESH:D003128] (524)
 Memory Disorders [MESH:D008569] (3233) 
 Amnesia [MESH:D000647] (1911) 
 Amnesia, Retrograde [MESH:D000648] (53)
 Intellectual Disability [MESH:D008607] (3054) 
 Epileptic encephalopathy, Lennox-Gastaut type [MESH:C535500] (70)
 Zlotogora-Ogur syndrome [MESH:C536726] (25)
 Parastremmatic dwarfism [MESH:C537172] (39)
 Pitt-Hopkins syndrome [MESH:C537403] (113)
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (85)
 Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65)
 Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation [MESH:C567038] (48)
 De Lange Syndrome [MESH:D003635] (55)
 Down Syndrome [MESH:D004314] (1287)
 Prader-Willi Syndrome [MESH:D011218] (46)
 WAGR Syndrome [MESH:D017624] (270)
 Mental Retardation, X-Linked [MESH:D038901] (1854) 
 Lubs X-linked mental retardation syndrome [MESH:C537723] (44)
 Mental Retardation, X-Linked, Syndromic 13 [MESH:C566875] (44)
 Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations [MESH:C566878] (44)
 Rett Syndrome [MESH:D015518] (143)
 Neuromuscular Manifestations [MESH:D020879] (2130) 
 Fasciculation [MESH:D005207] (204)
 Muscle Weakness [MESH:D018908] (478)
 Muscular Atrophy [MESH:D009133] (1234)
 Muscle Hypertonia [MESH:D009122] (775) 
 Muscle Rigidity [MESH:D009127] (617)
 Muscle Hypotonia [MESH:D009123] (258) 
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Spasm [MESH:D013035] (418) 
 Trismus [MESH:D014313] (221) 
 Hecht syndrome [MESH:C535857] (10)
 Pain [MESH:D010146] (3875) 
 Headache [MESH:D006261] (1416)
 Neuralgia [MESH:D009437] (2074)
 Paralysis [MESH:D010243] (2043) 
 Hemiplegia [MESH:D006429] (184) 
 Alternating hemiplegia of childhood [MESH:C536589] (70)
 Ophthalmoplegia [MESH:D009886] (1468) 
 Fibrosis Of Extraocular Muscles, Congenital, 2 [MESH:C566587] (18)
 Supranuclear Palsy, Progressive [MESH:D013494] (235)
 Reflex, Abnormal [MESH:D012021] (485) 
 Reflex, Babinski [MESH:D001405] (97)
 Sensation Disorders [MESH:D012678] (5011) 
 Olfaction Disorders [MESH:D000857] (105)
 Taste Disorders [MESH:D013651] (461)
 Hearing Disorders [MESH:D006311] (2103) 
 Hearing Loss [MESH:D034381] (2068) 
 Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)
 Microtia, Hearing Impairment, And Cleft Palate [MESH:C567359] (30)
 Deafness [MESH:D003638] (623) 
 Deaf-Blind Disorders [MESH:D054062] (132) 
 Usher Syndromes [MESH:D052245] (83) 
 Usher syndrome, type 1D [MESH:C536487] (23)
 Hearing Loss, Sensorineural [MESH:D006319] (1227) 
 Optic atrophy 1 and deafness [MESH:C537124] (30)
 Griscelli syndrome type 1 [MESH:C537301] (42)
 Deafness, Autosomal Recessive 12 [MESH:C563327] (46)
 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness [MESH:C563798] (43)
 Insulin-Like Growth Factor I Deficiency [MESH:C563867] (346)
 Deafness, Autosomal Dominant 44 [MESH:C564399] (18)
 Usher Syndromes [MESH:D052245] (83) 
 Usher syndrome, type 1D [MESH:C536487] (23)
 Somatosensory Disorders [MESH:D020886] (4000) 
 Hyperalgesia [MESH:D006930] (3929)
 Vision Disorders [MESH:D014786] (501) 
 Blindness [MESH:D001766] (252) 
 Deaf-Blind Disorders [MESH:D054062] (132) 
 Usher Syndromes [MESH:D052245] (83) 
 Usher syndrome, type 1D [MESH:C536487] (23)
 Neuromuscular Diseases [MESH:D009468] (7336) 
 Motor Neuron Disease [MESH:D016472] (3670) 
 Amyotrophic Lateral Sclerosis [MESH:D000690] (3296) 
 Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559)
 Muscular Atrophy, Spinal [MESH:D009134] (850) 
 Neuronopathy, Distal Hereditary Motor, Type Viib [MESH:C564362] (21)
 Muscular Atrophy, Spinal [MESH:D009134] (377) 
 Neuronopathy, Distal Hereditary Motor, Type Viib [MESH:C564362] (21)
 Muscular Diseases [MESH:D009135] (3538) 
 VLCAD deficiency [MESH:C536353] (55)
 Systemic carnitine deficiency [MESH:C536778] (92)
 Myopathy, Myosin Storage [MESH:C564253] (77)
 Muscular Disorders, Atrophic [MESH:D020966] (1594) 
 Muscular Dystrophies [MESH:D009136] (1589) 
 Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency [MESH:C567709] (41)
 Muscular Dystrophy, Duchenne [MESH:D020388] (942)
 Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854)
 Distal Myopathies [MESH:D049310] (178) 
 Distal myopathy, Nonaka type [MESH:C536816] (40)
 Muscular Dystrophies, Limb-Girdle [MESH:D049288] (259) 
 Limb-girdle muscular dystrophy type 2A [MESH:C535895] (14)
 Myositis [MESH:D009220] (2069) 
 Polymyositis [MESH:D017285] (2007)
 Myositis, Inclusion Body [MESH:D018979] (103) 
 Inclusion body myopathy autosomal recessive [MESH:C538329] (40)
 Neuromuscular Junction Diseases [MESH:D020511] (712) 
 Myasthenic Syndromes, Congenital [MESH:D020294] (155) 
 Myasthenic syndrome, congenital, postsynaptic slow-channel [MESH:C536091] (73)
 Myasthenic Syndrome, Congenital, Fast-Channel [MESH:C563832] (58)
 Peripheral Nervous System Diseases [MESH:D010523] (6151) 
 Diabetic Neuropathies [MESH:D003929] (2442)
 Neuralgia [MESH:D009437] (2078)
 Mononeuropathies [MESH:D020422] (604) 
 Sciatic Neuropathy [MESH:D020426] (477)
 Peripheral Nervous System Neoplasms [MESH:D010524] (287) 
 Nerve Sheath Neoplasms [MESH:D018317] (286) 
 Neurofibroma [MESH:D009455] (47) 
 Neurofibrosarcoma [MESH:D018319] (44)
 Polyneuropathies [MESH:D011115] (1134) 
 Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899) 
 Charcot-Marie-Tooth Disease [MESH:D002607] (627) 
 Hereditary Motor And Sensory Neuropathy, Type IIC [MESH:C565261] (39)
 Spastic Paraplegia, Hereditary [MESH:D015419] (449) 
 Spastic paraplegia 13, autosomal dominant [MESH:C537485] (178)
 Neurotoxicity Syndromes [MESH:D020258] (4570) 
 Dyskinesia, Drug-Induced [MESH:D004409] (1389)
 Heavy Metal Poisoning, Nervous System [MESH:D020260] (2912) 
 Arsenic Poisoning [MESH:D020261] (2540)
 Manganese Poisoning [MESH:D020149] (2214)
 Sleep Disorders [MESH:D012893] (2050) 
 Dyssomnias [MESH:D020920] (1417) 
 Sleep Deprivation [MESH:D012892] (233)
 Sleep Disorders, Circadian Rhythm [MESH:D020178] (94) 
 Advanced Sleep-Phase Syndrome, Familial [MESH:C565789] (82)
 Sleep Disorders, Intrinsic [MESH:D020919] (1270) 
 Sleep Apnea Syndromes [MESH:D012891] (570)
 Sleep Initiation and Maintenance Disorders [MESH:D007319] (354)
 Disorders of Excessive Somnolence [MESH:D006970] (581) 
 Narcolepsy [MESH:D009290] (478)
 Parasomnias [MESH:D020447] (453) 
 Sleep Arousal Disorders [MESH:D020921] (80) 
 Somnambulism [MESH:D013009] (75) 
 Epilepsy, Nocturnal Frontal Lobe, Type 4 [MESH:C563679] (43)
 Trauma, Nervous System [MESH:D020196] (3997) 
 Spinal Cord Injuries [MESH:D013119] (1676)
 Craniocerebral Trauma [MESH:D006259] (3507) 
 Brain Injuries [MESH:D001930] (3431)
C11. Eye Diseases 
C11. Eye Diseases
 Eye Diseases [MESH:D005128] (6245) 
 Corneal Diseases [MESH:D003316] (1445) 
 Corneal Opacity [MESH:D003318] (544)
 Eye Abnormalities [MESH:D005124] (1233) 
 Aniridia [MESH:D015783] (312) 
 WAGR Syndrome [MESH:D017624] (270)
 Coloboma [MESH:D003103] (315) 
 Microphthalmia, Isolated, with Coloboma 5 [MESH:C566899] (50)
 Microphthalmos [MESH:D008850] (273) 
 Microphthalmia, Syndromic 6 [MESH:C566440] (101)
 Microphthalmia, Isolated, with Coloboma 5 [MESH:C566899] (50)
 Eye Diseases, Hereditary [MESH:D015785] (1869) 
 Night blindness, congenital stationary [MESH:C536122] (37)
 Fibrosis Of Extraocular Muscles, Congenital, 2 [MESH:C566587] (18)
 Cataract, Congenital Nuclear, Autosomal Recessive 3 [MESH:C566923] (8)
 Duane Retraction Syndrome [MESH:D004370] (43)
 Aniridia [MESH:D015783] (312) 
 WAGR Syndrome [MESH:D017624] (270)
 Leber Congenital Amaurosis [MESH:D057130] (157) 
 Amaurosis congenita of Leber, type 1 [MESH:C536600] (11)
 Optic Atrophies, Hereditary [MESH:D015418] (1151) 
 Optic atrophy 1 and deafness [MESH:C537124] (30)
 Optic Atrophy, Autosomal Dominant [MESH:D029241] (31)
 Retinitis Pigmentosa [MESH:D012174] (414) 
 Retinal cone dystrophy 2 [MESH:C538363] (11)
 Cone-Rod Dystrophy 5 [MESH:C563415] (19)
 Cone-Rod Dystrophy 7 [MESH:C566350] (11)
 Eye Neoplasms [MESH:D005134] (413) 
 Retinal Neoplasms [MESH:D019572] (320) 
 Retinoblastoma [MESH:D012175] (319)
 Eyelid Diseases [MESH:D005141] (882) 
 Blepharoptosis [MESH:D001763] (117) 
 Fibrosis Of Extraocular Muscles, Congenital, 2 [MESH:C566587] (18)
 Blepharospasm [MESH:D001764] (51) 
 Benign essential blepharospasm [MESH:C535428] (32)
 Lacrimal Apparatus Diseases [MESH:D007766] (644) 
 Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)
 Aplasia of Lacrimal and Salivary Glands [MESH:C562407] (42)
 Dry Eye Syndromes [MESH:D015352] (533)
 Lens Diseases [MESH:D007905] (900) 
 Cataract [MESH:D002386] (860) 
 Cerulean cataract [MESH:C537955] (14)
 Cataract, Coppock-Like [MESH:C565133] (20)
 Cataract, Pulverulent, Juvenile-Onset [MESH:C565703] (69)
 Cataract, Congenital Nuclear, Autosomal Recessive 3 [MESH:C566923] (8)
 Ocular Hypertension [MESH:D009798] (1630) 
 Glaucoma [MESH:D005901] (1458) 
 Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation [MESH:C567038] (48)
 Glaucoma, Open-Angle [MESH:D005902] (1281) 
 Glaucoma, Primary Open Angle [MESH:C562750] (466)
 Ocular Motility Disorders [MESH:D015835] (1699) 
 Duane Retraction Syndrome [MESH:D004370] (43)
 Ophthalmoplegia [MESH:D009886] (1468) 
 Fibrosis Of Extraocular Muscles, Congenital, 2 [MESH:C566587] (18)
 Supranuclear Palsy, Progressive [MESH:D013494] (235)
 Optic Nerve Diseases [MESH:D009901] (1377) 
 Optic Atrophy [MESH:D009896] (1203) 
 Optic Atrophies, Hereditary [MESH:D015418] (1151) 
 Optic atrophy 1 and deafness [MESH:C537124] (30)
 Optic Atrophy, Autosomal Dominant [MESH:D029241] (31)
 Orbital Diseases [MESH:D009916] (317) 
 Exophthalmos [MESH:D005094] (297) 
 Graves Disease [MESH:D006111] (278)
 Refractive Errors [MESH:D012030] (457) 
 Myopia [MESH:D009216] (349) 
 Night blindness, congenital stationary [MESH:C536122] (37)
 Retinal Diseases [MESH:D012164] (3747) 
 Diabetic Retinopathy [MESH:D003930] (1371)
 Retinitis [MESH:D012173] (137)
 Leber Congenital Amaurosis [MESH:D057130] (157) 
 Amaurosis congenita of Leber, type 1 [MESH:C536600] (11)
 Retinal Degeneration [MESH:D012162] (2386) 
 Macular Degeneration [MESH:D008268] (995) 
 Macular Degeneration, Age-Related, 10 [MESH:C566935] (162)
 Macular Degeneration, Age-Related, 11 [MESH:C567450] (61)
 Retinal Dystrophies [MESH:D058499] (1315) 
 Retinitis Pigmentosa [MESH:D012174] (1307) 
 Retinal cone dystrophy 2 [MESH:C538363] (11)
 Cone-Rod Dystrophy 5 [MESH:C563415] (19)
 Cone-Rod Dystrophy 7 [MESH:C566350] (11)
 Usher Syndromes [MESH:D052245] (83) 
 Usher syndrome, type 1D [MESH:C536487] (23)
 Retinal Detachment [MESH:D012163] (1639) 
 Knobloch syndrome [MESH:C537209] (70)
 Retinal Neoplasms [MESH:D019572] (320) 
 Retinoblastoma [MESH:D012175] (319)
 Uveal Diseases [MESH:D014603] (2428) 
 Iris Diseases [MESH:D007499] (348) 
 Aniridia [MESH:D015783] (312) 
 WAGR Syndrome [MESH:D017624] (270)
 Uveitis [MESH:D014605] (2157) 
 Panuveitis [MESH:D015864] (1805) 
 Uveitis, Anterior [MESH:D014606] (1791) 
 Behcet Syndrome [MESH:D001528] (1784)
 Vision Disorders [MESH:D014786] (534) 
 Blindness [MESH:D001766] (259) 
 Deaf-Blind Disorders [MESH:D054062] (132) 
 Usher Syndromes [MESH:D052245] (83) 
 Usher syndrome, type 1D [MESH:C536487] (23)
 Night Blindness [MESH:D009755] (76) 
 Night blindness, congenital stationary [MESH:C536122] (37)
 Oguchi disease [MESH:C537743] (22)
C12. Male Urogenital Diseases 
C12. Male Urogenital Diseases
 Male Urogenital Diseases [MESH:D052801] (8891) 
 Genital Diseases, Male [MESH:D005832] (6794) 
 Genital Neoplasms, Male [MESH:D005834] (6224) 
 Penile Neoplasms [MESH:D010412] (890)
 Testicular Neoplasms [MESH:D013736] (520)
 Prostatic Neoplasms [MESH:D011471] (6135) 
 Prostate Cancer, Hereditary, 13 [MESH:C567456] (35)
 Infertility [MESH:D007246] (2909) 
 Infertility, Male [MESH:D007248] (2851) 
 Aromatase deficiency [MESH:C537436] (277)
 Azoospermia [MESH:D053713] (1052)
 Oligospermia [MESH:D009845] (799)
 Penile Diseases [MESH:D010409] (1805) 
 Penile Induration [MESH:D010411] (495)
 Penile Neoplasms [MESH:D010412] (890)
 Prostatic Diseases [MESH:D011469] (6204) 
 Prostatitis [MESH:D011472] (424)
 Prostatic Neoplasms [MESH:D011471] (6135) 
 Prostate Cancer, Hereditary, 13 [MESH:C567456] (35)
 Sexual Dysfunction, Physiological [MESH:D012735] (1808) 
 Erectile Dysfunction [MESH:D007172] (1791)
 Testicular Diseases [MESH:D013733] (451) 
 Cryptorchidism [MESH:D003456] (215)
 Urogenital Abnormalities [MESH:D014564] (2065) 
 Allanson Pantzar McLeod syndrome [MESH:C537048] (503)
 Rosselli-Gulienetti Syndrome [MESH:C563117] (25)
 Microphthalmia, Syndromic 6 [MESH:C566440] (101)
 Cryptorchidism [MESH:D003456] (215)
 Disorders of Sex Development [MESH:D012734] (1637) 
 46, XX Disorders of Sex Development [MESH:D058489] (644) 
 Aromatase deficiency [MESH:C537436] (277)
 46, XY Disorders of Sex Development [MESH:D058490] (1060) 
 Persistent Mullerian duct syndrome [MESH:C536665] (47)
 17-Hydroxysteroid Dehydrogenase Deficiency [MESH:C537805] (52)
 Denys-Drash Syndrome [MESH:D030321] (57)
 Frasier Syndrome [MESH:D052159] (57)
 Kallmann Syndrome [MESH:D017436] (147)
 WAGR Syndrome [MESH:D017624] (270)
 Gonadal Dysgenesis, 46,XY [MESH:D006061] (131) 
 Meacham Winn Culler syndrome [MESH:C538162] (57)
 Gonadal Dysgenesis [MESH:D006059] (492) 
 Sexual Infantilism [MESH:D050035] (277)
 Gonadal Dysgenesis, 46,XY [MESH:D006061] (131) 
 Meacham Winn Culler syndrome [MESH:C538162] (57)
 Urogenital Neoplasms [MESH:D014565] (6932) 
 Genital Neoplasms, Male [MESH:D005834] (6224) 
 Penile Neoplasms [MESH:D010412] (890)
 Testicular Neoplasms [MESH:D013736] (520)
 Prostatic Neoplasms [MESH:D011471] (6135) 
 Prostate Cancer, Hereditary, 13 [MESH:C567456] (35)
 Urologic Neoplasms [MESH:D014571] (5315) 
 Ureteral Neoplasms [MESH:D014516] (574)
 Urinary Bladder Neoplasms [MESH:D001749] (4079)
 Kidney Neoplasms [MESH:D007680] (3966) 
 Carcinoma, Renal Cell [MESH:D002292] (2975)
 Wilms Tumor [MESH:D009396] (553) 
 Denys-Drash Syndrome [MESH:D030321] (57)
 WAGR Syndrome [MESH:D017624] (270)
 Urologic Diseases [MESH:D014570] (7792) 
 Urinary Tract Infections [MESH:D014552] (984)
 Urolithiasis [MESH:D052878] (585)
 Kidney Diseases [MESH:D007674] (7242) 
 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness [MESH:C563798] (43)
 Anuria [MESH:D001002] (833)
 Diabetic Nephropathies [MESH:D003928] (2301)
 Fanconi Syndrome [MESH:D005198] (253)
 Zellweger Syndrome [MESH:D015211] (182)
 Hyperoxaluria [MESH:D006959] (1498) 
 Hyperoxaluria, Primary [MESH:D006960] (63) 
 Primary hyperoxaluria type 1 [MESH:C536414] (48)
 Kidney Diseases, Cystic [MESH:D052177] (1009) 
 Polycystic Kidney Diseases [MESH:D007690] (853) 
 Polycystic Kidney, Autosomal Recessive [MESH:D017044] (462)
 Polycystic Kidney, Autosomal Dominant [MESH:D016891] (522) 
 Medullary cystic kidney disease 1 [MESH:C536137] (61)
 Kidney Neoplasms [MESH:D007680] (3966) 
 Carcinoma, Renal Cell [MESH:D002292] (2975)
 Wilms Tumor [MESH:D009396] (553) 
 Denys-Drash Syndrome [MESH:D030321] (57)
 WAGR Syndrome [MESH:D017624] (270)
 Nephritis [MESH:D009393] (4236) 
 Glomerulonephritis [MESH:D005921] (3758) 
 Glomerulonephritis, IGA [MESH:D005922] (897)
 Glomerulonephritis, Membranoproliferative [MESH:D015432] (770)
 Glomerulonephritis, Membranous [MESH:D015433] (642)
 Glomerulosclerosis, Focal Segmental [MESH:D005923] (1754)
 Lupus Nephritis [MESH:D008181] (602)
 Nephritis, Interstitial [MESH:D009395] (1927) 
 Balkan Nephropathy [MESH:D001449] (772)
 Nephrocalcinosis [MESH:D009397] (311) 
 Hypomagnesemia primary [MESH:C537153] (35)
 Nephrosis [MESH:D009401] (2228) 
 Nephrotic Syndrome [MESH:D009404] (1536)
 Renal Insufficiency [MESH:D051437] (4951) 
 Arthrogryposis renal dysfunction cholestasis syndrome [MESH:C535382] (23)
 Acute Kidney Injury [MESH:D058186] (4142)
 Renal Insufficiency, Chronic [MESH:D051436] (2931) 
 Kidney Failure, Chronic [MESH:D007676] (2930) 
 Frasier Syndrome [MESH:D052159] (57)
 Renal Tubular Transport, Inborn Errors [MESH:D015499] (1058) 
 Hypomagnesemia 2, renal [MESH:C537152] (38)
 Hypomagnesemia primary [MESH:C537153] (35)
 Fanconi Syndrome [MESH:D005198] (253)
 Liddle Syndrome [MESH:D056929] (200)
 Pseudohypoaldosteronism [MESH:D011546] (232)
 Acidosis, Renal Tubular [MESH:D000141] (225) 
 Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation [MESH:C567038] (48)
 Bartter Syndrome [MESH:D001477] (241) 
 Bartter syndrome, antenatal , type 2 [MESH:C537651] (30)
 Hypophosphatemia, Familial [MESH:D007015] (276) 
 Familial Hypophosphatemic Rickets [MESH:D053098] (274) 
 Vitamin D Hydroxylation-Deficient Rickets, Type 1A [MESH:C562688] (58)
 Hypophosphatemic Rickets, Autosomal Recessive, 2 [MESH:C567647] (48)
 Renal Aminoacidurias [MESH:D000608] (95) 
 Cystinuria [MESH:D003555] (67) 
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Uremia [MESH:D014511] (2898) 
 Hemolytic-Uremic Syndrome [MESH:D006463] (2435)
 Ureteral Diseases [MESH:D014515] (1024) 
 Ureteral Neoplasms [MESH:D014516] (574)
 Ureteral Obstruction [MESH:D014517] (575)
 Urinary Bladder Diseases [MESH:D001745] (4374) 
 Urinary Bladder Neoplasms [MESH:D001749] (4079)
 Urination Disorders [MESH:D014555] (3598) 
 Anuria [MESH:D001002] (833)
 Polyuria [MESH:D011141] (279)
 Proteinuria [MESH:D011507] (3293) 
 Hemoglobinuria [MESH:D006456] (75) 
 CD59 Deficiency [MESH:C567355] (57)
C13. Female Urogenital Diseases and Pregnancy Complications 
C13. Female Urogenital Diseases and Pregnancy Complications
 Z. Exceptions (1116) 
 Not Fully Specified [NFS] (1116)
 Female Urogenital Diseases [MESH:D052776] (8724) 
 Genital Diseases, Female [MESH:D005831] (5563) 
 Endometriosis [MESH:D004715] (2461)
 Adnexal Diseases [MESH:D000291] (4273) 
 Ovarian Diseases [MESH:D010049] (4255) 
 Ovarian Cysts [MESH:D010048] (2534) 
 Polycystic Ovary Syndrome [MESH:D011085] (2186)
 Ovarian Neoplasms [MESH:D010051] (3281) 
 Ovarian epithelial cancer [MESH:C538090] (57)
 Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)
 Infertility [MESH:D007246] (2211) 
 Infertility, Female [MESH:D007247] (2184)
 Uterine Diseases [MESH:D014591] (2479) 
 Uterine Neoplasms [MESH:D014594] (2430) 
 Endometrial Neoplasms [MESH:D016889] (1984)
 Vulvar Diseases [MESH:D014845] (873) 
 Vulvar Lichen Sclerosus [MESH:D007724] (825)
 Urogenital Abnormalities [MESH:D014564] (2043) 
 Allanson Pantzar McLeod syndrome [MESH:C537048] (503)
 Rosselli-Gulienetti Syndrome [MESH:C563117] (25)
 Microphthalmia, Syndromic 6 [MESH:C566440] (101)
 Disorders of Sex Development [MESH:D012734] (1637) 
 46, XX Disorders of Sex Development [MESH:D058489] (644) 
 Aromatase deficiency [MESH:C537436] (277)
 46, XY Disorders of Sex Development [MESH:D058490] (1060) 
 Persistent Mullerian duct syndrome [MESH:C536665] (47)
 17-Hydroxysteroid Dehydrogenase Deficiency [MESH:C537805] (52)
 Denys-Drash Syndrome [MESH:D030321] (57)
 Frasier Syndrome [MESH:D052159] (57)
 Kallmann Syndrome [MESH:D017436] (147)
 WAGR Syndrome [MESH:D017624] (270)
 Gonadal Dysgenesis, 46,XY [MESH:D006061] (131) 
 Meacham Winn Culler syndrome [MESH:C538162] (57)
 Gonadal Dysgenesis [MESH:D006059] (492) 
 Sexual Infantilism [MESH:D050035] (277)
 Gonadal Dysgenesis, 46,XY [MESH:D006061] (131) 
 Meacham Winn Culler syndrome [MESH:C538162] (57)
 Urogenital Neoplasms [MESH:D014565] (5792) 
 Genital Neoplasms, Female [MESH:D005833] (3810) 
 Ovarian Neoplasms [MESH:D010051] (3281) 
 Ovarian epithelial cancer [MESH:C538090] (57)
 Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)
 Uterine Neoplasms [MESH:D014594] (2433) 
 Endometrial Neoplasms [MESH:D016889] (1989)
 Urologic Neoplasms [MESH:D014571] (5315) 
 Ureteral Neoplasms [MESH:D014516] (574)
 Urinary Bladder Neoplasms [MESH:D001749] (4079)
 Kidney Neoplasms [MESH:D007680] (3966) 
 Carcinoma, Renal Cell [MESH:D002292] (2975)
 Wilms Tumor [MESH:D009396] (553) 
 Denys-Drash Syndrome [MESH:D030321] (57)
 WAGR Syndrome [MESH:D017624] (270)
 Urologic Diseases [MESH:D014570] (7793) 
 Urinary Tract Infections [MESH:D014552] (984)
 Urolithiasis [MESH:D052878] (585)
 Kidney Diseases [MESH:D007674] (7242) 
 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness [MESH:C563798] (43)
 Anuria [MESH:D001002] (833)
 Diabetic Nephropathies [MESH:D003928] (2301)
 Fanconi Syndrome [MESH:D005198] (253)
 Zellweger Syndrome [MESH:D015211] (182)
 Hyperoxaluria [MESH:D006959] (1498) 
 Hyperoxaluria, Primary [MESH:D006960] (63) 
 Primary hyperoxaluria type 1 [MESH:C536414] (48)
 Kidney Diseases, Cystic [MESH:D052177] (1009) 
 Polycystic Kidney Diseases [MESH:D007690] (853) 
 Polycystic Kidney, Autosomal Recessive [MESH:D017044] (462)
 Polycystic Kidney, Autosomal Dominant [MESH:D016891] (522) 
 Medullary cystic kidney disease 1 [MESH:C536137] (61)
 Kidney Neoplasms [MESH:D007680] (3966) 
 Carcinoma, Renal Cell [MESH:D002292] (2975)
 Wilms Tumor [MESH:D009396] (553) 
 Denys-Drash Syndrome [MESH:D030321] (57)
 WAGR Syndrome [MESH:D017624] (270)
 Nephritis [MESH:D009393] (4236) 
 Glomerulonephritis [MESH:D005921] (3758) 
 Glomerulonephritis, IGA [MESH:D005922] (897)
 Glomerulonephritis, Membranoproliferative [MESH:D015432] (770)
 Glomerulonephritis, Membranous [MESH:D015433] (642)
 Glomerulosclerosis, Focal Segmental [MESH:D005923] (1754)
 Lupus Nephritis [MESH:D008181] (602)
 Nephritis, Interstitial [MESH:D009395] (1927) 
 Balkan Nephropathy [MESH:D001449] (772)
 Nephrocalcinosis [MESH:D009397] (311) 
 Hypomagnesemia primary [MESH:C537153] (35)
 Nephrosis [MESH:D009401] (2228) 
 Nephrotic Syndrome [MESH:D009404] (1536)
 Renal Insufficiency [MESH:D051437] (4951) 
 Arthrogryposis renal dysfunction cholestasis syndrome [MESH:C535382] (23)
 Acute Kidney Injury [MESH:D058186] (4142)
 Renal Insufficiency, Chronic [MESH:D051436] (2931) 
 Kidney Failure, Chronic [MESH:D007676] (2930) 
 Frasier Syndrome [MESH:D052159] (57)
 Renal Tubular Transport, Inborn Errors [MESH:D015499] (1058) 
 Hypomagnesemia 2, renal [MESH:C537152] (38)
 Hypomagnesemia primary [MESH:C537153] (35)
 Fanconi Syndrome [MESH:D005198] (253)
 Liddle Syndrome [MESH:D056929] (200)
 Pseudohypoaldosteronism [MESH:D011546] (232)
 Acidosis, Renal Tubular [MESH:D000141] (225) 
 Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation [MESH:C567038] (48)
 Bartter Syndrome [MESH:D001477] (241) 
 Bartter syndrome, antenatal , type 2 [MESH:C537651] (30)
 Hypophosphatemia, Familial [MESH:D007015] (276) 
 Familial Hypophosphatemic Rickets [MESH:D053098] (274) 
 Vitamin D Hydroxylation-Deficient Rickets, Type 1A [MESH:C562688] (58)
 Hypophosphatemic Rickets, Autosomal Recessive, 2 [MESH:C567647] (48)
 Renal Aminoacidurias [MESH:D000608] (95) 
 Cystinuria [MESH:D003555] (67) 
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Uremia [MESH:D014511] (2898) 
 Hemolytic-Uremic Syndrome [MESH:D006463] (2435)
 Ureteral Diseases [MESH:D014515] (1024) 
 Ureteral Neoplasms [MESH:D014516] (574)
 Ureteral Obstruction [MESH:D014517] (575)
 Urinary Bladder Diseases [MESH:D001745] (4375) 
 Urinary Bladder Neoplasms [MESH:D001749] (4079)
 Urination Disorders [MESH:D014555] (3598) 
 Anuria [MESH:D001002] (833)
 Polyuria [MESH:D011141] (279)
 Proteinuria [MESH:D011507] (3293) 
 Hemoglobinuria [MESH:D006456] (75) 
 CD59 Deficiency [MESH:C567355] (57)
 Pregnancy Complications [MESH:D011248] (4768) 
 Diabetes, Gestational [MESH:D016640] (1157)
 Fetal Death [MESH:D005313] (464)
 Abortion, Spontaneous [MESH:D000022] (2780) 
 Abortion, Habitual [MESH:D000026] (32)
 Hypertension, Pregnancy-Induced [MESH:D046110] (1453) 
 Pre-Eclampsia [MESH:D011225] (1435)
 Obstetric Labor Complications [MESH:D007744] (1550) 
 Fetal Membranes, Premature Rupture [MESH:D005322] (356)
 Obstetric Labor, Premature [MESH:D007752] (1316)
 Prenatal Injuries [MESH:D049188] (1314) 
 Prenatal Exposure Delayed Effects [MESH:D011297] (870)
C14. Cardiovascular Diseases 
C14. Cardiovascular Diseases
 Z. Exceptions (2667) 
 Not Fully Specified [NFS] (2667)
 Cardiovascular Diseases [MESH:D002318] (10123) 
 Cardiovascular Abnormalities [MESH:D018376] (3153) 
 Heart Defects, Congenital [MESH:D006330] (2447) 
 Cardiofaciocutaneous syndrome [MESH:C535579] (407)
 VATER association [MESH:C536534] (46)
 Short QT Syndrome 1 [MESH:C566506] (189)
 Alagille Syndrome [MESH:D016738] (105)
 Marfan Syndrome [MESH:D008382] (646)
 Tetralogy of Fallot [MESH:D013771] (121)
 22q11 Deletion Syndrome [MESH:D058165] (237) 
 DiGeorge Syndrome [MESH:D004062] (236)
 Heart Septal Defects [MESH:D006343] (385) 
 Heart Septal Defects, Atrial [MESH:D006344] (209)
 Heart Septal Defects, Ventricular [MESH:D006345] (160)
 LEOPARD Syndrome [MESH:D044542] (299) 
 LEOPARD syndrome, 2 [MESH:C537117] (169)
 Noonan Syndrome [MESH:D009634] (506) 
 Noonan Syndrome 5 [MESH:C548083] (169)
 Noonan Syndrome 6 [MESH:C548084] (44)
 Vascular Malformations [MESH:D054079] (1098) 
 Arteriovenous Malformations [MESH:D001165] (1058) 
 Capillary Malformation-Arteriovenous Malformation [MESH:C564254] (50)
 Heart Diseases [MESH:D006331] (8614) 
 Heart Failure [MESH:D006333] (4058)
 Arrhythmias, Cardiac [MESH:D001145] (4679) 
 Short QT Syndrome 1 [MESH:C566506] (189)
 Bradycardia [MESH:D001919] (1899)
 Arrhythmia, Sinus [MESH:D001146] (324) 
 Sick Sinus Syndrome [MESH:D012804] (293)
 Atrial Fibrillation [MESH:D001281] (1053) 
 Atrial Fibrillation, Familial, 7 [MESH:C567389] (39)
 Heart Block [MESH:D006327] (571) 
 Atrioventricular Block [MESH:D054537] (188)
 Sick Sinus Syndrome [MESH:D012804] (293)
 Long QT Syndrome [MESH:D008133] (693) 
 Long Qt Syndrome 2 [MESH:C563614] (189)
 Tachycardia [MESH:D013610] (3339) 
 Tachycardia, Ventricular [MESH:D017180] (1386) 
 Polymorphic catecholergic ventricular tachycardia [MESH:C536334] (64)
 Torsades de Pointes [MESH:D016171] (880)
 Cardiomegaly [MESH:D006332] (4081) 
 Hypertrophy, Left Ventricular [MESH:D017379] (1430)
 Cardiomyopathy, Dilated [MESH:D002311] (1576) 
 Cardiomyopathy, Dilated, 1s [MESH:C563538] (77)
 Cardiomyopathy, Dilated, 1p [MESH:C563690] (45)
 Cardiomyopathy, Dilated, 2a [MESH:C567505] (51)
 Cardiomyopathy, Dilated, 1FF [MESH:C567654] (51)
 Cardiomyopathy, Dilated, 1EE [MESH:C567683] (61)
 Cardiomyopathies [MESH:D009202] (5331) 
 Systemic carnitine deficiency [MESH:C536778] (92)
 Diabetic Cardiomyopathies [MESH:D058065] (1995)
 Myocardial Reperfusion Injury [MESH:D015428] (3500)
 Myocarditis [MESH:D009205] (1708)
 Cardiomyopathy, Dilated [MESH:D002311] (1576) 
 Cardiomyopathy, Dilated, 1s [MESH:C563538] (77)
 Cardiomyopathy, Dilated, 1p [MESH:C563690] (45)
 Cardiomyopathy, Dilated, 2a [MESH:C567505] (51)
 Cardiomyopathy, Dilated, 1FF [MESH:C567654] (51)
 Cardiomyopathy, Dilated, 1EE [MESH:C567683] (61)
 Cardiomyopathy, Hypertrophic [MESH:D002312] (1516) 
 Cardiomyopathy, Hypertrophic, Familial [MESH:D024741] (339) 
 Cardiomyopathy, Familial Hypertrophic, 10 [MESH:C563865] (42)
 Cardiomyopathy, Familial Hypertrophic, 1 [MESH:C566005] (190)
 Cardiomyopathy, Familial Hypertrophic, 14 [MESH:C567684] (61)
 Cardiomyopathy, Restrictive [MESH:D002313] (94) 
 Cardiomyopathy, Familial Restrictive, 1 [MESH:C566168] (51)
 Heart Defects, Congenital [MESH:D006330] (2443) 
 Cardiofaciocutaneous syndrome [MESH:C535579] (407)
 VATER association [MESH:C536534] (46)
 Short QT Syndrome 1 [MESH:C566506] (189)
 Marfan Syndrome [MESH:D008382] (646)
 Tetralogy of Fallot [MESH:D013771] (121)
 22q11 Deletion Syndrome [MESH:D058165] (237) 
 DiGeorge Syndrome [MESH:D004062] (236)
 Heart Septal Defects [MESH:D006343] (385) 
 Heart Septal Defects, Atrial [MESH:D006344] (209)
 Heart Septal Defects, Ventricular [MESH:D006345] (160)
 LEOPARD Syndrome [MESH:D044542] (299) 
 LEOPARD syndrome, 2 [MESH:C537117] (169)
 Noonan Syndrome [MESH:D009634] (506) 
 Noonan Syndrome 5 [MESH:C548083] (169)
 Noonan Syndrome 6 [MESH:C548084] (44)
 Heart Neoplasms [MESH:D006338] (47) 
 Carney Complex [MESH:D056733] (45) 
 Carney Complex Variant [MESH:C563845] (10)
 Heart Valve Diseases [MESH:D006349] (3333) 
 Aortic Valve Insufficiency [MESH:D001022] (1002)
 Aortic Valve Stenosis [MESH:D001024] (1742) 
 Aortic Valve, Calcification of [MESH:C562942] (655)
 Aortic Stenosis, Subvalvular [MESH:D001020] (1455) 
 Cardiomyopathy, Hypertrophic [MESH:D002312] (1451)
 Pulmonary Valve Stenosis [MESH:D011666] (360) 
 LEOPARD Syndrome [MESH:D044542] (299) 
 LEOPARD syndrome, 2 [MESH:C537117] (169)
 Myocardial Ischemia [MESH:D017202] (5787) 
 Acute Coronary Syndrome [MESH:D054058] (2286)
 Myocardial Reperfusion Injury [MESH:D015428] (3500)
 Myocardial Stunning [MESH:D017682] (1816)
 Angina Pectoris [MESH:D000787] (2575) 
 Acute Coronary Syndrome [MESH:D054058] (2286)
 Angina, Stable [MESH:D060050] (1702)
 Coronary Disease [MESH:D003327] (3439) 
 Coronary Artery Disease [MESH:D003324] (2685)
 Coronary Stenosis [MESH:D023921] (1806) 
 Coronary Restenosis [MESH:D023903] (1683)
 Myocardial Infarction [MESH:D009203] (4122) 
 Myocardial Stunning [MESH:D017682] (1816)
 Ventricular Dysfunction [MESH:D018754] (2348) 
 Ventricular Dysfunction, Left [MESH:D018487] (1631)
 Ventricular Outflow Obstruction [MESH:D014694] (976) 
 Aortic Valve Stenosis [MESH:D001024] (810) 
 Aortic Valve, Calcification of [MESH:C562942] (655)
 Vascular Diseases [MESH:D014652] (8691) 
 Angioedema [MESH:D000799] (837)
 Arteritis [MESH:D001167] (1084)
 Hyperemia [MESH:D006940] (2372)
 Hypotension [MESH:D007022] (4045)
 Peripheral Vascular Diseases [MESH:D016491] (1412)
 Varicose Veins [MESH:D014648] (383)
 Vascular System Injuries [MESH:D057772] (2086)
 Aneurysm [MESH:D000783] (1886) 
 Aneurysm, Ruptured [MESH:D017542] (645) 
 Aortic Rupture [MESH:D001019] (637)
 Aortic Aneurysm [MESH:D001014] (1721) 
 Aortic Aneurysm, Abdominal [MESH:D017544] (1519)
 Aortic Aneurysm, Thoracic [MESH:D017545] (781)
 Aortic Rupture [MESH:D001019] (637)
 Angiomatosis [MESH:D000798] (620) 
 Sturge-Weber Syndrome [MESH:D013341] (76)
 von Hippel-Lindau Disease [MESH:D006623] (580)
 Aortic Diseases [MESH:D001018] (1737) 
 Aortic Aneurysm [MESH:D001014] (1721) 
 Aortic Aneurysm, Abdominal [MESH:D017544] (1519)
 Aortic Aneurysm, Thoracic [MESH:D017545] (781)
 Aortic Rupture [MESH:D001019] (637)
 Arterial Occlusive Diseases [MESH:D001157] (4520) 
 Mesenteric Vascular Occlusion [MESH:D008641] (147)
 Arteriosclerosis [MESH:D001161] (4466) 
 Atherosclerosis [MESH:D050197] (4188)
 Coronary Artery Disease [MESH:D003324] (2685)
 Arteriovenous Malformations [MESH:D001165] (1058) 
 Capillary Malformation-Arteriovenous Malformation [MESH:C564254] (50)
 Cerebrovascular Disorders [MESH:D002561] (5541) 
 Brain Ischemia [MESH:D002545] (4873) 
 Ischemic Attack, Transient [MESH:D002546] (1313)
 Brain Infarction [MESH:D020520] (2571) 
 Cerebral Infarction [MESH:D002544] (2458) 
 Infarction, Middle Cerebral Artery [MESH:D020244] (2268)
 Carotid Artery Diseases [MESH:D002340] (1993) 
 Carotid Artery Thrombosis [MESH:D002341] (138)
 Cerebral Small Vessel Diseases [MESH:D059345] (1292) 
 Cerebral Amyloid Angiopathy, Familial [MESH:D028243] (377)
 Intracranial Arterial Diseases [MESH:D020765] (2468) 
 Cerebral Arterial Diseases [MESH:D002539] (2440) 
 Infarction, Middle Cerebral Artery [MESH:D020244] (2268)
 Cerebral Amyloid Angiopathy [MESH:D016657] (470) 
 Cerebral Amyloid Angiopathy, Familial [MESH:D028243] (377)
 Intracranial Embolism and Thrombosis [MESH:D002542] (550) 
 Carotid Artery Thrombosis [MESH:D002341] (138)
 Intracranial Hemorrhages [MESH:D020300] (3269) 
 Cerebral Hemorrhage [MESH:D002543] (2873)
 Pituitary Apoplexy [MESH:D010899] (125)
 Subarachnoid Hemorrhage [MESH:D013345] (1082)
 Stroke [MESH:D020521] (3702) 
 Brain Infarction [MESH:D020520] (2571) 
 Cerebral Infarction [MESH:D002544] (2458) 
 Infarction, Middle Cerebral Artery [MESH:D020244] (2268)
 Diabetic Angiopathies [MESH:D003925] (1984) 
 Diabetic Retinopathy [MESH:D003930] (1371)
 Embolism and Thrombosis [MESH:D016769] (3374) 
 Embolism [MESH:D004617] (1137) 
 Pulmonary Embolism [MESH:D011655] (1118)
 Thromboembolism [MESH:D013923] (732) 
 Venous Thromboembolism [MESH:D054556] (400)
 Intracranial Embolism and Thrombosis [MESH:D002542] (550) 
 Carotid Artery Thrombosis [MESH:D002341] (138)
 Thrombosis [MESH:D013927] (3101) 
 Heparin Cofactor II Deficiency [MESH:C562865] (45)
 Venous Thrombosis [MESH:D020246] (1141)
 Thromboembolism [MESH:D013923] (732) 
 Venous Thromboembolism [MESH:D054556] (400)
 Intracranial Embolism and Thrombosis [MESH:D002542] (550) 
 Carotid Artery Thrombosis [MESH:D002341] (138)
 Hemostatic Disorders [MESH:D020141] (2894) 
 Multiple Myeloma [MESH:D009101] (2765)
 Ehlers-Danlos Syndrome [MESH:D004535] (491) 
 Ehlers-Danlos syndrome type 1 [MESH:C536194] (344)
 Ehlers-Danlos syndrome, cardiac valvular form [MESH:C536200] (152)
 Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant [MESH:C562625] (375)
 Hypertension [MESH:D006973] (5655) 
 Hypertension, Essential [MESH:C562386] (1308)
 Hypertension, Diastolic, Resistance to [MESH:C563897] (18)
 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy [MESH:C565359] (84)
 Myocardial Ischemia [MESH:D017202] (5791) 
 Acute Coronary Syndrome [MESH:D054058] (2286)
 Myocardial Reperfusion Injury [MESH:D015428] (3500)
 Myocardial Stunning [MESH:D017682] (1816)
 Angina Pectoris [MESH:D000787] (2575) 
 Acute Coronary Syndrome [MESH:D054058] (2286)
 Angina, Stable [MESH:D060050] (1702)
 Coronary Disease [MESH:D003327] (3439) 
 Coronary Artery Disease [MESH:D003324] (2685)
 Coronary Stenosis [MESH:D023921] (1806) 
 Coronary Restenosis [MESH:D023903] (1683)
 Myocardial Infarction [MESH:D009203] (4151) 
 Myocardial Stunning [MESH:D017682] (1816)
 Reperfusion Injury [MESH:D015427] (4968) 
 Myocardial Reperfusion Injury [MESH:D015428] (3500)
 Vasculitis [MESH:D014657] (2604) 
 Arteritis [MESH:D001167] (1084)
 Behcet Syndrome [MESH:D001528] (1784)
C15. Hemic and Lymphatic Diseases 
C15. Hemic and Lymphatic Diseases
 Hematologic Diseases [MESH:D006402] (6174) 
 Rh-Null, Regulator Type [MESH:C564833] (12)
 Adenosine Triphosphate, Elevated, Of Erythrocytes [MESH:C566310] (78)
 Anemia [MESH:D000740] (3966) 
 Anemia, Aplastic [MESH:D000741] (1925) 
 Anemia, Hypoplastic, Congenital [MESH:D029502] (1665) 
 Anemia, Diamond-Blackfan [MESH:D029503] (158) 
 Diamond-Blackfan Anemia 5 [MESH:C567280] (30)
 Diamond-Blackfan Anemia 4 [MESH:C567281] (30)
 Anemia, Hemolytic [MESH:D000743] (3083) 
 CD59 Deficiency [MESH:C567355] (57)
 Hemolytic-Uremic Syndrome [MESH:D006463] (2435)
 Anemia, Hemolytic, Congenital [MESH:D000745] (2001) 
 Anemia, Hemolytic, Congenital Nonspherocytic [MESH:D000746] (308) 
 Pyruvate Kinase Deficiency of Red Cells [MESH:C564858] (78)
 Hemoglobinuria, Paroxysmal [MESH:D006457] (293) 
 Bone Marrow failure syndromes [MESH:C536572] (248)
 Anemia, Macrocytic [MESH:D000748] (382) 
 Anemia, Megaloblastic [MESH:D000749] (288)
 Red-Cell Aplasia, Pure [MESH:D012010] (183) 
 Anemia, Diamond-Blackfan [MESH:D029503] (158) 
 Diamond-Blackfan Anemia 5 [MESH:C567280] (30)
 Diamond-Blackfan Anemia 4 [MESH:C567281] (30)
 Blood Coagulation Disorders [MESH:D001778] (1828) 
 Disseminated Intravascular Coagulation [MESH:D004211] (462)
 Thrombocythemia, Essential [MESH:D013920] (707)
 Blood Coagulation Disorders, Inherited [MESH:D025861] (720) 
 Thrombasthenia [MESH:D013915] (98)
 Blood Group Incompatibility [MESH:D001787] (277) 
 Erythroblastosis, Fetal [MESH:D004899] (275) 
 Kernicterus [MESH:D007647] (256)
 Blood Platelet Disorders [MESH:D001791] (3174) 
 Thrombasthenia [MESH:D013915] (98)
 Thrombocytopenia [MESH:D013921] (2966) 
 Thrombotic Microangiopathies [MESH:D057049] (2598) 
 Hemolytic-Uremic Syndrome [MESH:D006463] (2435)
 Thrombocytosis [MESH:D013922] (720) 
 Thrombocythemia, Essential [MESH:D013920] (707)
 Blood Protein Disorders [MESH:D001796] (3051) 
 Agammaglobulinemia [MESH:D000361] (156)
 Hypergammaglobulinemia [MESH:D006942] (137) 
 Mevalonate Kinase Deficiency [MESH:D054078] (38)
 Hypoproteinemia [MESH:D007019] (1335) 
 Hypoalbuminemia [MESH:D034141] (1332)
 Paraproteinemias [MESH:D010265] (2781) 
 Multiple Myeloma [MESH:D009101] (2765)
 Bone Marrow Diseases [MESH:D001855] (2944) 
 Anemia, Aplastic [MESH:D000741] (1925) 
 Anemia, Hypoplastic, Congenital [MESH:D029502] (1665) 
 Anemia, Diamond-Blackfan [MESH:D029503] (158) 
 Diamond-Blackfan Anemia 5 [MESH:C567280] (30)
 Diamond-Blackfan Anemia 4 [MESH:C567281] (30)
 Myelodysplastic-Myeloproliferative Diseases [MESH:D054437] (376) 
 Leukemia, Myelomonocytic, Juvenile [MESH:D054429] (344)
 Myelodysplastic Syndromes [MESH:D009190] (2093) 
 Hemoglobinuria, Paroxysmal [MESH:D006457] (293) 
 Bone Marrow failure syndromes [MESH:C536572] (248)
 Myeloproliferative Disorders [MESH:D009196] (1492) 
 Leukemia, Myelogenous, Chronic, BCR-ABL Positive [MESH:D015464] (1032)
 Primary Myelofibrosis [MESH:D055728] (165) 
 Familial myelofibrosis [MESH:C536848] (21)
 Thrombocytosis [MESH:D013922] (720) 
 Thrombocythemia, Essential [MESH:D013920] (707)
 Hemorrhagic Disorders [MESH:D006474] (3359) 
 Disseminated Intravascular Coagulation [MESH:D004211] (462)
 Thrombasthenia [MESH:D013915] (98)
 Thrombocythemia, Essential [MESH:D013920] (707)
 Hemostatic Disorders [MESH:D020141] (2932) 
 Multiple Myeloma [MESH:D009101] (2765)
 Ehlers-Danlos Syndrome [MESH:D004535] (491) 
 Ehlers-Danlos syndrome type 1 [MESH:C536194] (344)
 Ehlers-Danlos syndrome, cardiac valvular form [MESH:C536200] (152)
 Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant [MESH:C562625] (375)
 Leukocyte Disorders [MESH:D007960] (2662) 
 Leukostasis [MESH:D018921] (769)
 Pelger-Huet Anomaly [MESH:D010381] (28)
 Eosinophilia [MESH:D004802] (537) 
 Reticuloendotheliosis, familial, with eosinophilia [MESH:C538564] (44)
 Leukopenia [MESH:D007970] (1921) 
 Agranulocytosis [MESH:D000380] (1675) 
 Neutropenia [MESH:D009503] (1629) 
 Neutropenia, Severe Congenital, Autosomal Recessive 3 [MESH:C537592] (21)
 Phagocyte Bactericidal Dysfunction [MESH:D010585] (998) 
 Granulomatous Disease, Chronic [MESH:D006105] (404) 
 Granulomatous Disease, Chronic, X-Linked [MESH:C564417] (111)
 Methemoglobinemia [MESH:D008708] (850) 
 NADH cytochrome B5 reductase deficiency [MESH:C537841] (66)
 Polycythemia [MESH:D011086] (412) 
 Erythrocytosis, Familial, 2 [MESH:C563918] (39)
 Thrombophilia [MESH:D019851] (592) 
 Disseminated Intravascular Coagulation [MESH:D004211] (462)
 Lymphatic Diseases [MESH:D008206] (5167) 
 Splenic Diseases [MESH:D013158] (1323)
 Lymphatic Abnormalities [MESH:D044148] (251) 
 22q11 Deletion Syndrome [MESH:D058165] (237) 
 DiGeorge Syndrome [MESH:D004062] (236)
 Lymphoproliferative Disorders [MESH:D008232] (4638) 
 Agammaglobulinemia [MESH:D000361] (156)
 Autoimmune Lymphoproliferative Syndrome [MESH:D056735] (704)
 Sarcoidosis [MESH:D012507] (895)
 Leukemia, Lymphoid [MESH:D007945] (3047) 
 Leukemia, T-Cell [MESH:D015458] (395)
 Leukemia, B-Cell [MESH:D015448] (2564) 
 Leukemia, Lymphocytic, Chronic, B-Cell [MESH:D015451] (2562)
 Precursor Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054198] (1754) 
 Precursor B-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D015452] (354)
 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054218] (510)
 Lymphangiomyoma [MESH:D008203] (163) 
 Lymphangioleiomyomatosis [MESH:D018192] (162)
 Lymphoma [MESH:D008223] (3684) 
 Hodgkin Disease [MESH:D006689] (1082)
 Lymphoma, Non-Hodgkin [MESH:D008228] (3330) 
 Burkitt Lymphoma [MESH:D002051] (691)
 Lymphoma, Follicular [MESH:D008224] (1025)
 Lymphoma, Mantle-Cell [MESH:D020522] (561)
 Lymphoma, B-Cell [MESH:D016393] (2624) 
 Burkitt Lymphoma [MESH:D002051] (691)
 Lymphoma, AIDS-Related [MESH:D016483] (278)
 Lymphoma, Large B-Cell, Diffuse [MESH:D016403] (2012)
 Lymphoma, T-Cell [MESH:D016399] (1204) 
 Lymphoma, T-Cell, Cutaneous [MESH:D016410] (912)
C16. Congenital, Hereditary, and Neonatal Diseases and Abnormalities 
C16. Congenital, Hereditary, and Neonatal Diseases and Abnormalities
 Congenital, Hereditary, and Neonatal Diseases and Abnormalities [MESH:D009358] (12152) 
 Congenital Abnormalities [MESH:D000013] (8109) 
 Abnormalities, Multiple [MESH:D000015] (3192) 
 Hecht syndrome [MESH:C535857] (10)
 Multiple pterygium syndrome [MESH:C537377] (23)
 Bamforth syndrome [MESH:C537901] (186)
 Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)
 Beta-Ureidopropionase Deficiency [MESH:C563210] (35)
 Alagille Syndrome [MESH:D016738] (105)
 Angelman Syndrome [MESH:D017204] (124)
 Bardet-Biedl Syndrome [MESH:D020788] (110)
 Basal Cell Nevus Syndrome [MESH:D001478] (67)
 Costello Syndrome [MESH:D056685] (407)
 De Lange Syndrome [MESH:D003635] (55)
 Down Syndrome [MESH:D004314] (1287)
 Marfan Syndrome [MESH:D008382] (646)
 Prader-Willi Syndrome [MESH:D011218] (46)
 Wolf-Hirschhorn Syndrome [MESH:D054877] (72)
 Zellweger Syndrome [MESH:D015211] (182)
 22q11 Deletion Syndrome [MESH:D058165] (237) 
 DiGeorge Syndrome [MESH:D004062] (236)
 Carney Complex [MESH:D056733] (45) 
 Carney Complex Variant [MESH:C563845] (10)
 Deaf-Blind Disorders [MESH:D054062] (132) 
 Usher Syndromes [MESH:D052245] (83) 
 Usher syndrome, type 1D [MESH:C536487] (23)
 Ectodermal Dysplasia [MESH:D004476] (938) 
 Cardiofaciocutaneous syndrome [MESH:C535579] (407)
 Zlotogora-Ogur syndrome [MESH:C536726] (25)
 Rosselli-Gulienetti Syndrome [MESH:C563117] (25)
 Holoprosencephaly [MESH:D016142] (218) 
 Holoprosencephaly 7 [MESH:C563660] (46)
 Holoprosencephaly 3 [MESH:C564181] (50)
 LEOPARD Syndrome [MESH:D044542] (299) 
 LEOPARD syndrome, 2 [MESH:C537117] (169)
 Cardiovascular Abnormalities [MESH:D018376] (3294) 
 Heart Defects, Congenital [MESH:D006330] (2611) 
 Cardiofaciocutaneous syndrome [MESH:C535579] (407)
 VATER association [MESH:C536534] (46)
 Short QT Syndrome 1 [MESH:C566506] (189)
 Alagille Syndrome [MESH:D016738] (105)
 Marfan Syndrome [MESH:D008382] (646)
 Tetralogy of Fallot [MESH:D013771] (121)
 22q11 Deletion Syndrome [MESH:D058165] (237) 
 DiGeorge Syndrome [MESH:D004062] (236)
 Heart Septal Defects [MESH:D006343] (385) 
 Heart Septal Defects, Atrial [MESH:D006344] (209)
 Heart Septal Defects, Ventricular [MESH:D006345] (160)
 LEOPARD Syndrome [MESH:D044542] (299) 
 LEOPARD syndrome, 2 [MESH:C537117] (169)
 Long QT Syndrome [MESH:D008133] (693) 
 Long Qt Syndrome 2 [MESH:C563614] (189)
 Noonan Syndrome [MESH:D009634] (506) 
 Noonan Syndrome 5 [MESH:C548083] (169)
 Noonan Syndrome 6 [MESH:C548084] (44)
 Vascular Malformations [MESH:D054079] (1108) 
 Arteriovenous Malformations [MESH:D001165] (1058) 
 Capillary Malformation-Arteriovenous Malformation [MESH:C564254] (50)
 Chromosome Disorders [MESH:D025063] (2030) 
 Angelman Syndrome [MESH:D017204] (124)
 De Lange Syndrome [MESH:D003635] (55)
 Down Syndrome [MESH:D004314] (1287)
 Prader-Willi Syndrome [MESH:D011218] (46)
 WAGR Syndrome [MESH:D017624] (270)
 Wolf-Hirschhorn Syndrome [MESH:D054877] (72)
 22q11 Deletion Syndrome [MESH:D058165] (237) 
 DiGeorge Syndrome [MESH:D004062] (236)
 Holoprosencephaly [MESH:D016142] (218) 
 Holoprosencephaly 7 [MESH:C563660] (46)
 Holoprosencephaly 3 [MESH:C564181] (50)
 Digestive System Abnormalities [MESH:D004065] (507) 
 Currarino triad [MESH:C536221] (47)
 Hirschsprung Disease [MESH:D006627] (361)
 Anus, Imperforate [MESH:D001006] (140) 
 VATER association [MESH:C536534] (46)
 Eye Abnormalities [MESH:D005124] (1233) 
 Aniridia [MESH:D015783] (312) 
 WAGR Syndrome [MESH:D017624] (270)
 Coloboma [MESH:D003103] (315) 
 Microphthalmia, Isolated, with Coloboma 5 [MESH:C566899] (50)
 Microphthalmos [MESH:D008850] (273) 
 Microphthalmia, Syndromic 6 [MESH:C566440] (101)
 Microphthalmia, Isolated, with Coloboma 5 [MESH:C566899] (50)
 Lymphatic Abnormalities [MESH:D044148] (251) 
 22q11 Deletion Syndrome [MESH:D058165] (237) 
 DiGeorge Syndrome [MESH:D004062] (236)
 Musculoskeletal Abnormalities [MESH:D009139] (3779) 
 Arthrogryposis [MESH:D001176] (329) 
 Arthrogryposis renal dysfunction cholestasis syndrome [MESH:C535382] (23)
 Hecht syndrome [MESH:C535857] (10)
 Distal arthrogryposis type 2B [MESH:C538400] (85)
 Craniofacial Abnormalities [MESH:D019465] (3064) 
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Cleidocranial Dysplasia [MESH:D002973] (129)
 Craniofacial Dysostosis [MESH:D003394] (391)
 Microcephaly [MESH:D008831] (700)
 22q11 Deletion Syndrome [MESH:D058165] (237) 
 DiGeorge Syndrome [MESH:D004062] (236)
 Craniosynostoses [MESH:D003398] (438) 
 Jackson-Weiss syndrome [MESH:C537559] (149)
 Cutis Gyrata Syndrome of Beare And Stevenson [MESH:C565129] (85)
 Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (85)
 Acrocephalosyndactylia [MESH:D000168] (201) 
 Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149)
 Holoprosencephaly [MESH:D016142] (218) 
 Holoprosencephaly 7 [MESH:C563660] (46)
 Holoprosencephaly 3 [MESH:C564181] (50)
 LEOPARD Syndrome [MESH:D044542] (299) 
 LEOPARD syndrome, 2 [MESH:C537117] (169)
 Maxillofacial Abnormalities [MESH:D019767] (1448) 
 Jaw Abnormalities [MESH:D007569] (1435) 
 Cleft Palate [MESH:D002972] (1330) 
 Zlotogora-Ogur syndrome [MESH:C536726] (25)
 Bamforth syndrome [MESH:C537901] (186)
 Rosselli-Gulienetti Syndrome [MESH:C563117] (25)
 Orofacial Cleft 5 [MESH:C563843] (38)
 Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65)
 Microtia, Hearing Impairment, And Cleft Palate [MESH:C567359] (30)
 Orofacial Cleft 11 [MESH:C567410] (101)
 Noonan Syndrome [MESH:D009634] (506) 
 Noonan Syndrome 5 [MESH:C548083] (169)
 Noonan Syndrome 6 [MESH:C548084] (44)
 Plagiocephaly [MESH:D059041] (440) 
 Plagiocephaly, Nonsynostotic [MESH:D049068] (85)
 Craniosynostoses [MESH:D003398] (438) 
 Jackson-Weiss syndrome [MESH:C537559] (149)
 Cutis Gyrata Syndrome of Beare And Stevenson [MESH:C565129] (85)
 Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (85)
 Acrocephalosyndactylia [MESH:D000168] (201) 
 Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149)
 Limb Deformities, Congenital [MESH:D017880] (1813) 
 Acromicric dysplasia [MESH:C535662] (520)
 Microphthalmia, Syndromic 6 [MESH:C566440] (101)
 Metaphyseal Anadysplasia 2 [MESH:C567771] (452)
 Brachydactyly [MESH:D059327] (220)
 Lower Extremity Deformities, Congenital [MESH:D038061] (81)
 Foot Deformities, Congenital [MESH:D005532] (538) 
 Jackson-Weiss syndrome [MESH:C537559] (149)
 Syndactyly [MESH:D013576] (487) 
 Zlotogora-Ogur syndrome [MESH:C536726] (25)
 Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)
 Rosselli-Gulienetti Syndrome [MESH:C563117] (25)
 Acrocephalosyndactylia [MESH:D000168] (201) 
 Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149)
 Synostosis [MESH:D013580] (817) 
 Antley-Bixler Syndrome Phenotype [MESH:D054882] (284)
 Craniosynostoses [MESH:D003398] (438) 
 Jackson-Weiss syndrome [MESH:C537559] (149)
 Cutis Gyrata Syndrome of Beare And Stevenson [MESH:C565129] (85)
 Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (85)
 Acrocephalosyndactylia [MESH:D000168] (201) 
 Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149)
 Syndactyly [MESH:D013576] (487) 
 Zlotogora-Ogur syndrome [MESH:C536726] (25)
 Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)
 Rosselli-Gulienetti Syndrome [MESH:C563117] (25)
 Acrocephalosyndactylia [MESH:D000168] (201) 
 Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149)
 Nervous System Malformations [MESH:D009421] (3354) 
 Microphthalmia, Syndromic 6 [MESH:C566440] (101)
 Agenesis of Corpus Callosum [MESH:D061085] (345) 
 Acrocallosal Syndrome [MESH:D055673] (43)
 Holoprosencephaly [MESH:D016142] (218) 
 Holoprosencephaly 7 [MESH:C563660] (46)
 Holoprosencephaly 3 [MESH:C564181] (50)
 Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899) 
 Charcot-Marie-Tooth Disease [MESH:D002607] (627) 
 Hereditary Motor And Sensory Neuropathy, Type IIC [MESH:C565261] (39)
 Spastic Paraplegia, Hereditary [MESH:D015419] (449) 
 Spastic paraplegia 13, autosomal dominant [MESH:C537485] (178)
 Holoprosencephaly [MESH:D016142] (218) 
 Holoprosencephaly 7 [MESH:C563660] (46)
 Holoprosencephaly 3 [MESH:C564181] (50)
 Malformations of Cortical Development [MESH:D054220] (1406) 
 Microcephaly [MESH:D008831] (700)
 Lissencephaly [MESH:D054082] (218) 
 Classical Lissencephalies and Subcortical Band Heterotopias [MESH:D054221] (114)
 Neuronal Migration Disorders [MESH:D054081] (264) 
 Classical Lissencephalies and Subcortical Band Heterotopias [MESH:D054221] (114)
 Neural Tube Defects [MESH:D009436] (2143) 
 Spinal Dysraphism [MESH:D016135] (1025)
 Encephalocele [MESH:D004677] (151) 
 Knobloch syndrome [MESH:C537209] (70)
 Skin Abnormalities [MESH:D012868] (1723) 
 Multiple pterygium syndrome [MESH:C537377] (23)
 Cutis Gyrata Syndrome of Beare And Stevenson [MESH:C565129] (85)
 Carney Complex [MESH:D056733] (45) 
 Carney Complex Variant [MESH:C563845] (10)
 Ectodermal Dysplasia [MESH:D004476] (958) 
 Cardiofaciocutaneous syndrome [MESH:C535579] (407)
 Zlotogora-Ogur syndrome [MESH:C536726] (25)
 Rosselli-Gulienetti Syndrome [MESH:C563117] (25)
 Ehlers-Danlos Syndrome [MESH:D004535] (491) 
 Ehlers-Danlos syndrome type 1 [MESH:C536194] (344)
 Ehlers-Danlos syndrome, cardiac valvular form [MESH:C536200] (152)
 Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant [MESH:C562625] (375)
 Epidermolysis Bullosa [MESH:D004820] (260) 
 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness [MESH:C563798] (43)
 Ichthyosis [MESH:D007057] (481) 
 Ichthyosiform Erythroderma, Congenital [MESH:D016113] (238) 
 Ichthyosis, Lamellar [MESH:D017490] (81) 
 Ichthyosiform erythroderma, Brocq congenital, nonbullous form [MESH:C538603] (62)
 Port-Wine Stain [MESH:D019339] (86) 
 Capillary Malformation-Arteriovenous Malformation [MESH:C564254] (50)
 Stomatognathic System Abnormalities [MESH:D018640] (1705) 
 Maxillofacial Abnormalities [MESH:D019767] (1447) 
 Jaw Abnormalities [MESH:D007569] (1438) 
 Cleft Palate [MESH:D002972] (1330) 
 Zlotogora-Ogur syndrome [MESH:C536726] (25)
 Bamforth syndrome [MESH:C537901] (186)
 Rosselli-Gulienetti Syndrome [MESH:C563117] (25)
 Orofacial Cleft 5 [MESH:C563843] (38)
 Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65)
 Microtia, Hearing Impairment, And Cleft Palate [MESH:C567359] (30)
 Orofacial Cleft 11 [MESH:C567410] (101)
 Retrognathia [MESH:D063173] (110) 
 Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (85)
 Mouth Abnormalities [MESH:D009056] (1383) 
 Cleft Lip [MESH:D002971] (914) 
 Rosselli-Gulienetti Syndrome [MESH:C563117] (25)
 Orofacial Cleft 5 [MESH:C563843] (38)
 Orofacial Cleft 11 [MESH:C567410] (101)
 Cleft Palate [MESH:D002972] (1330) 
 Zlotogora-Ogur syndrome [MESH:C536726] (25)
 Bamforth syndrome [MESH:C537901] (186)
 Rosselli-Gulienetti Syndrome [MESH:C563117] (25)
 Orofacial Cleft 5 [MESH:C563843] (38)
 Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65)
 Microtia, Hearing Impairment, And Cleft Palate [MESH:C567359] (30)
 Orofacial Cleft 11 [MESH:C567410] (101)
 Tooth Abnormalities [MESH:D014071] (622) 
 Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)
 Anodontia [MESH:D000848] (185) 
 Witkop syndrome [MESH:C536736] (38)
 Single upper central incisor [MESH:C537342] (50)
 Thyroid Dysgenesis [MESH:D050033] (33) 
 Hypothyroidism, Congenital, Nongoitrous, 2 [MESH:C566852] (30)
 Urogenital Abnormalities [MESH:D014564] (2064) 
 Allanson Pantzar McLeod syndrome [MESH:C537048] (503)
 Rosselli-Gulienetti Syndrome [MESH:C563117] (25)
 Microphthalmia, Syndromic 6 [MESH:C566440] (101)
 Cryptorchidism [MESH:D003456] (215)
 Disorders of Sex Development [MESH:D012734] (1637) 
 46, XX Disorders of Sex Development [MESH:D058489] (644) 
 Aromatase deficiency [MESH:C537436] (277)
 46, XY Disorders of Sex Development [MESH:D058490] (1060) 
 Persistent Mullerian duct syndrome [MESH:C536665] (47)
 17-Hydroxysteroid Dehydrogenase Deficiency [MESH:C537805] (52)
 Denys-Drash Syndrome [MESH:D030321] (57)
 Frasier Syndrome [MESH:D052159] (57)
 Kallmann Syndrome [MESH:D017436] (147)
 WAGR Syndrome [MESH:D017624] (270)
 Gonadal Dysgenesis, 46,XY [MESH:D006061] (131) 
 Meacham Winn Culler syndrome [MESH:C538162] (57)
 Gonadal Dysgenesis [MESH:D006059] (492) 
 Sexual Infantilism [MESH:D050035] (277)
 Gonadal Dysgenesis, 46,XY [MESH:D006061] (131) 
 Meacham Winn Culler syndrome [MESH:C538162] (57)
 Genetic Diseases, Inborn [MESH:D030342] (9766) 
 ACTH Deficiency, Isolated [MESH:C562707] (124)
 Alagille Syndrome [MESH:D016738] (105)
 Autoimmune Lymphoproliferative Syndrome [MESH:D056735] (704)
 Camurati-Engelmann Syndrome [MESH:D003966] (492)
 Costello Syndrome [MESH:D056685] (407)
 Cystic Fibrosis [MESH:D003550] (760)
 Frasier Syndrome [MESH:D052159] (57)
 Hyperthyroxinemia, Familial Dysalbuminemic [MESH:D050010] (478)
 Kallmann Syndrome [MESH:D017436] (147)
 Marfan Syndrome [MESH:D008382] (646)
 Pelger-Huet Anomaly [MESH:D010381] (28)
 Polycystic Kidney, Autosomal Recessive [MESH:D017044] (462)
 Anemia, Hemolytic, Congenital [MESH:D000745] (2001) 
 Anemia, Hemolytic, Congenital Nonspherocytic [MESH:D000746] (308) 
 Pyruvate Kinase Deficiency of Red Cells [MESH:C564858] (78)
 Anemia, Hypoplastic, Congenital [MESH:D029502] (1665) 
 Anemia, Diamond-Blackfan [MESH:D029503] (158) 
 Diamond-Blackfan Anemia 5 [MESH:C567280] (30)
 Diamond-Blackfan Anemia 4 [MESH:C567281] (30)
 Blood Coagulation Disorders, Inherited [MESH:D025861] (722) 
 Thrombasthenia [MESH:D013915] (98)
 Cardiomyopathy, Hypertrophic, Familial [MESH:D024741] (339) 
 Cardiomyopathy, Familial Hypertrophic, 10 [MESH:C563865] (42)
 Cardiomyopathy, Familial Hypertrophic, 1 [MESH:C566005] (190)
 Cardiomyopathy, Familial Hypertrophic, 14 [MESH:C567684] (61)
 Chromosome Disorders [MESH:D025063] (2030) 
 Angelman Syndrome [MESH:D017204] (124)
 De Lange Syndrome [MESH:D003635] (55)
 Down Syndrome [MESH:D004314] (1287)
 Prader-Willi Syndrome [MESH:D011218] (46)
 WAGR Syndrome [MESH:D017624] (270)
 Wolf-Hirschhorn Syndrome [MESH:D054877] (72)
 22q11 Deletion Syndrome [MESH:D058165] (237) 
 DiGeorge Syndrome [MESH:D004062] (236)
 Holoprosencephaly [MESH:D016142] (218) 
 Holoprosencephaly 7 [MESH:C563660] (46)
 Holoprosencephaly 3 [MESH:C564181] (50)
 Dwarfism [MESH:D004392] (783) 
 Parastremmatic dwarfism [MESH:C537172] (39)
 Metatropic dwarfism [MESH:C537356] (39)
 Isolated Growth Hormone Deficiency, Type IB [MESH:C567564] (140)
 Congenital Hypothyroidism [MESH:D003409] (266) 
 Hypothyroidism, Congenital, Nongoitrous, 2 [MESH:C566852] (30)
 Eye Diseases, Hereditary [MESH:D015785] (1867) 
 Night blindness, congenital stationary [MESH:C536122] (37)
 Fibrosis Of Extraocular Muscles, Congenital, 2 [MESH:C566587] (18)
 Cataract, Congenital Nuclear, Autosomal Recessive 3 [MESH:C566923] (8)
 Duane Retraction Syndrome [MESH:D004370] (43)
 Albinism [MESH:D000417] (359) 
 Piebaldism [MESH:D016116] (167) 
 Griscelli syndrome type 1 [MESH:C537301] (42)
 Aniridia [MESH:D015783] (312) 
 WAGR Syndrome [MESH:D017624] (270)
 Optic Atrophies, Hereditary [MESH:D015418] (1151) 
 Optic atrophy 1 and deafness [MESH:C537124] (30)
 Optic Atrophy, Autosomal Dominant [MESH:D029241] (31)
 Retinitis Pigmentosa [MESH:D012174] (442) 
 Retinal cone dystrophy 2 [MESH:C538363] (11)
 Cone-Rod Dystrophy 5 [MESH:C563415] (19)
 Cone-Rod Dystrophy 7 [MESH:C566350] (11)
 Usher Syndromes [MESH:D052245] (83) 
 Usher syndrome, type 1D [MESH:C536487] (23)
 Genetic Diseases, X-Linked [MESH:D040181] (3028) 
 Night blindness, congenital stationary [MESH:C536122] (37)
 Muscular Dystrophy, Duchenne [MESH:D020388] (942)
 Granulomatous Disease, Chronic [MESH:D006105] (404) 
 Granulomatous Disease, Chronic, X-Linked [MESH:C564417] (111)
 Mental Retardation, X-Linked [MESH:D038901] (1867) 
 Lubs X-linked mental retardation syndrome [MESH:C537723] (44)
 Mental Retardation, X-Linked, Syndromic 13 [MESH:C566875] (44)
 Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations [MESH:C566878] (44)
 Classical Lissencephalies and Subcortical Band Heterotopias [MESH:D054221] (114)
 Rett Syndrome [MESH:D015518] (143)
 Hereditary Autoinflammatory Diseases [MESH:D056660] (272) 
 Cryopyrin-Associated Periodic Syndromes [MESH:D056587] (102)
 Mevalonate Kinase Deficiency [MESH:D054078] (38)
 Heredodegenerative Disorders, Nervous System [MESH:D020271] (3465) 
 Canavan Disease [MESH:D017825] (29)
 Huntington Disease [MESH:D006816] (540)
 Rett Syndrome [MESH:D015518] (143)
 Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (241) 
 Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178)
 Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899) 
 Charcot-Marie-Tooth Disease [MESH:D002607] (627) 
 Hereditary Motor And Sensory Neuropathy, Type IIC [MESH:C565261] (39)
 Spastic Paraplegia, Hereditary [MESH:D015419] (449) 
 Spastic paraplegia 13, autosomal dominant [MESH:C537485] (178)
 Mental Retardation, X-Linked [MESH:D038901] (1848) 
 Lubs X-linked mental retardation syndrome [MESH:C537723] (44)
 Mental Retardation, X-Linked, Syndromic 13 [MESH:C566875] (44)
 Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations [MESH:C566878] (44)
 Rett Syndrome [MESH:D015518] (143)
 Neuronal Ceroid-Lipofuscinoses [MESH:D009472] (1026) 
 Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)
 Ceroid Lipofuscinosis, Neuronal, 10 [MESH:C566438] (159)
 Ceroid Lipofuscinosis, Neuronal, 2 [MESH:C566857] (39)
 Optic Atrophies, Hereditary [MESH:D015418] (1151) 
 Optic atrophy 1 and deafness [MESH:C537124] (30)
 Optic Atrophy, Autosomal Dominant [MESH:D029241] (31)
 Spinocerebellar Degenerations [MESH:D013132] (449) 
 Spinocerebellar Ataxia 29 [MESH:C537206] (90)
 Spinocerebellar Ataxias [MESH:D020754] (322) 
 Spinocerebellar Ataxia 15 [MESH:C564685] (90)
 Machado-Joseph Disease [MESH:D017827] (37)
 Metabolism, Inborn Errors [MESH:D008661] (6032) 
 3-Hydroxyacyl-CoA Dehydrogenase Deficiency [MESH:C535310] (80)
 Butyrylcholinesterase deficiency [MESH:C537417] (176)
 Aromatase deficiency [MESH:C537436] (277)
 Xanthinuria, Type I [MESH:C562584] (190)
 Combined Oxidative Phosphorylation Deficiency 1 [MESH:C563797] (24)
 Mitochondrial Complex II Deficiency [MESH:C565375] (66)
 Amino Acid Metabolism, Inborn Errors [MESH:D000592] (2565) 
 Hydroxykynureninuria [MESH:C536081] (52)
 Methylmalonic acidemia [MESH:C537358] (764)
 Glycine N-Methyltransferase Deficiency [MESH:C564683] (72)
 Methylmalonic Aciduria and Homocystinuria, CblF Type [MESH:C564747] (21)
 Hyperglycinemia, Nonketotic [MESH:D020158] (67)
 Hyperhomocysteinemia [MESH:D020138] (1724)
 Maple Syrup Urine Disease [MESH:D008375] (127)
 Albinism [MESH:D000417] (359) 
 Piebaldism [MESH:D016116] (167) 
 Griscelli syndrome type 1 [MESH:C537301] (42)
 Phenylketonurias [MESH:D010661] (156) 
 Hyperphenylalaninemia, BH4-Deficient, B [MESH:C562656] (97)
 Urea Cycle Disorders, Inborn [MESH:D056806] (315) 
 Hyperargininemia [MESH:D020162] (109)
 Amyloidosis, Familial [MESH:D028226] (696) 
 Amyloidosis, familial visceral [MESH:C538249] (285)
 Cerebral Amyloid Angiopathy, Familial [MESH:D028243] (377)
 Brain Diseases, Metabolic, Inborn [MESH:D020739] (2634) 
 Cerebral Amyloid Angiopathy, Familial [MESH:D028243] (377)
 Hyperglycinemia, Nonketotic [MESH:D020158] (67)
 Leigh Disease [MESH:D007888] (206)
 Maple Syrup Urine Disease [MESH:D008375] (127)
 Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497) 
 Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178)
 Canavan Disease [MESH:D017825] (29)
 Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636) 
 Sialic Acid Storage Disease [MESH:D029461] (63)
 Sphingolipidoses [MESH:D013106] (582) 
 Farber Lipogranulomatosis [MESH:D055577] (62)
 Gaucher Disease [MESH:D005776] (299)
 Peroxisomal Disorders [MESH:D018901] (1472) 
 Peroxisome biogenesis disorders [MESH:C536664] (101)
 Mevalonate Kinase Deficiency [MESH:D054078] (38)
 Refsum Disease, Infantile [MESH:D052919] (51)
 Zellweger Syndrome [MESH:D015211] (182)
 Phenylketonurias [MESH:D010661] (156) 
 Hyperphenylalaninemia, BH4-Deficient, B [MESH:C562656] (97)
 Urea Cycle Disorders, Inborn [MESH:D056806] (315) 
 Hyperargininemia [MESH:D020162] (109)
 Carbohydrate Metabolism, Inborn Errors [MESH:D002239] (1100) 
 Hyperglycerolemia [MESH:C538138] (46)
 Fructose Metabolism, Inborn Errors [MESH:D015318] (125) 
 Fructose-1,6-Diphosphatase Deficiency [MESH:D015319] (72)
 Fructose Intolerance [MESH:D005633] (59)
 Glycogen Storage Disease [MESH:D006008] (530) 
 Glycogen Storage Disease Type V [MESH:D006012] (165)
 Glycogen Storage Disease Type VII [MESH:D006014] (37)
 Hyperoxaluria, Primary [MESH:D006960] (63) 
 Primary hyperoxaluria type 1 [MESH:C536414] (48)
 Mucopolysaccharidoses [MESH:D009083] (164) 
 Mucopolysaccharidosis VII [MESH:D016538] (88)
 Pyruvate Metabolism, Inborn Errors [MESH:D015323] (324) 
 Pyruvate Kinase Deficiency of Red Cells [MESH:C564858] (78)
 Leigh Disease [MESH:D007888] (206)
 Hyperbilirubinemia, Hereditary [MESH:D006933] (476) 
 Hyperbilirubinemia, Transient Familial Neonatal [MESH:C562692] (254)
 Gilbert Disease [MESH:D005878] (259)
 Crigler-Najjar Syndrome [MESH:D003414] (255) 
 Crigler Najjar syndrome, type 2 [MESH:C536213] (254)
 Lipid Metabolism, Inborn Errors [MESH:D008052] (2071) 
 Medium chain acyl CoA dehydrogenase deficiency [MESH:C536038] (92)
 VLCAD deficiency [MESH:C536353] (55)
 Hyperlipidemia, Familial Combined [MESH:D006950] (372)
 Hyperlipoproteinemia Type II [MESH:D006938] (707)
 Hypolipoproteinemias [MESH:D007009] (365) 
 Hypoalphalipoproteinemias [MESH:D052456] (323) 
 Lecithin Acyltransferase Deficiency [MESH:D007863] (72)
 Lipidoses [MESH:D008064] (1655) 
 Neuronal Ceroid-Lipofuscinoses [MESH:D009472] (1026) 
 Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)
 Ceroid Lipofuscinosis, Neuronal, 10 [MESH:C566438] (159)
 Ceroid Lipofuscinosis, Neuronal, 2 [MESH:C566857] (39)
 Sphingolipidoses [MESH:D013106] (582) 
 Farber Lipogranulomatosis [MESH:D055577] (62)
 Gaucher Disease [MESH:D005776] (299)
 Lysosomal Storage Diseases [MESH:D016464] (761) 
 Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636) 
 Sialic Acid Storage Disease [MESH:D029461] (63)
 Sphingolipidoses [MESH:D013106] (582) 
 Farber Lipogranulomatosis [MESH:D055577] (62)
 Gaucher Disease [MESH:D005776] (299)
 Mucopolysaccharidoses [MESH:D009083] (164) 
 Mucopolysaccharidosis VII [MESH:D016538] (88)
 Metal Metabolism, Inborn Errors [MESH:D008664] (2017) 
 Hemochromatosis [MESH:D006432] (1694)
 Hypophosphatemia, Familial [MESH:D007015] (276) 
 Familial Hypophosphatemic Rickets [MESH:D053098] (274) 
 Vitamin D Hydroxylation-Deficient Rickets, Type 1A [MESH:C562688] (58)
 Hypophosphatemic Rickets, Autosomal Recessive, 2 [MESH:C567647] (48)
 Pseudohypoparathyroidism [MESH:D011547] (88) 
 Albright's hereditary osteodystrophy [MESH:C537045] (82)
 Pseudohypoparathyroidism Type 1B [MESH:C548075] (82)
 Pseudopseudohypoparathyroidism [MESH:D011556] (82)
 Peroxisomal Disorders [MESH:D018901] (1788) 
 Peroxisome biogenesis disorders [MESH:C536664] (101)
 Mevalonate Kinase Deficiency [MESH:D054078] (38)
 Refsum Disease, Infantile [MESH:D052919] (51)
 Zellweger Syndrome [MESH:D015211] (182)
 Chondrodysplasia Punctata, Rhizomelic [MESH:D018902] (53) 
 Rhizomelic chondrodysplasia punctata, type 3 [MESH:C537608] (26)
 Porphyrias [MESH:D011164] (917) 
 Porphyrias, Hepatic [MESH:D017094] (881) 
 Porphyria, Acute Intermittent [MESH:D017118] (61)
 Purine-Pyrimidine Metabolism, Inborn Errors [MESH:D011686] (496) 
 Adenosine monophosphate deaminase deficiency [MESH:C538234] (13)
 Beta-Ureidopropionase Deficiency [MESH:C563210] (35)
 Renal Tubular Transport, Inborn Errors [MESH:D015499] (1027) 
 Hypomagnesemia 2, renal [MESH:C537152] (38)
 Hypomagnesemia primary [MESH:C537153] (35)
 Fanconi Syndrome [MESH:D005198] (253)
 Liddle Syndrome [MESH:D056929] (200)
 Pseudohypoaldosteronism [MESH:D011546] (232)
 Acidosis, Renal Tubular [MESH:D000141] (225) 
 Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation [MESH:C567038] (48)
 Hypophosphatemia, Familial [MESH:D007015] (276) 
 Familial Hypophosphatemic Rickets [MESH:D053098] (274) 
 Vitamin D Hydroxylation-Deficient Rickets, Type 1A [MESH:C562688] (58)
 Hypophosphatemic Rickets, Autosomal Recessive, 2 [MESH:C567647] (48)
 Renal Aminoacidurias [MESH:D000608] (95) 
 Cystinuria [MESH:D003555] (67) 
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Steroid Metabolism, Inborn Errors [MESH:D043202] (962) 
 17-Hydroxysteroid Dehydrogenase Deficiency [MESH:C537805] (52)
 Hypercholanemia, Familial [MESH:C564336] (58)
 Antley-Bixler Syndrome Phenotype [MESH:D054882] (284)
 Muscular Dystrophies [MESH:D009136] (1597) 
 Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency [MESH:C567709] (41)
 Glycogen Storage Disease Type VII [MESH:D006014] (37)
 Muscular Dystrophy, Duchenne [MESH:D020388] (942)
 Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854)
 Distal Myopathies [MESH:D049310] (178) 
 Distal myopathy, Nonaka type [MESH:C536816] (40)
 Muscular Dystrophies, Limb-Girdle [MESH:D049288] (259) 
 Limb-girdle muscular dystrophy type 2A [MESH:C535895] (14)
 Myasthenic Syndromes, Congenital [MESH:D020294] (155) 
 Myasthenic syndrome, congenital, postsynaptic slow-channel [MESH:C536091] (73)
 Myasthenic Syndrome, Congenital, Fast-Channel [MESH:C563832] (58)
 Neoplastic Syndromes, Hereditary [MESH:D009386] (2578) 
 Basal Cell Nevus Syndrome [MESH:D001478] (67)
 Hamartoma Syndrome, Multiple [MESH:D006223] (260)
 Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)
 Li-Fraumeni Syndrome [MESH:D016864] (859)
 Wilms Tumor [MESH:D009396] (553) 
 Denys-Drash Syndrome [MESH:D030321] (57)
 WAGR Syndrome [MESH:D017624] (270)
 Osteogenesis Imperfecta [MESH:D010013] (481) 
 Osteogenesis imperfecta, type 2A [MESH:C536042] (375)
 Osteogenesis imperfecta, type 3 [MESH:C536044] (375)
 Osteogenesis imperfecta, type 4 [MESH:C536045] (375)
 Osteogenesis Imperfecta, Type IX [MESH:C564921] (46)
 Skin Diseases, Genetic [MESH:D012873] (3456) 
 Osseous Heteroplasia, Progressive [MESH:C562735] (82)
 Dermatitis, Atopic [MESH:D003876] (2052)
 Albinism [MESH:D000417] (359) 
 Piebaldism [MESH:D016116] (167) 
 Griscelli syndrome type 1 [MESH:C537301] (42)
 Ectodermal Dysplasia [MESH:D004476] (958) 
 Cardiofaciocutaneous syndrome [MESH:C535579] (407)
 Zlotogora-Ogur syndrome [MESH:C536726] (25)
 Rosselli-Gulienetti Syndrome [MESH:C563117] (25)
 Ehlers-Danlos Syndrome [MESH:D004535] (491) 
 Ehlers-Danlos syndrome type 1 [MESH:C536194] (344)
 Ehlers-Danlos syndrome, cardiac valvular form [MESH:C536200] (152)
 Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant [MESH:C562625] (375)
 Epidermolysis Bullosa [MESH:D004820] (259) 
 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness [MESH:C563798] (43)
 Ichthyosiform Erythroderma, Congenital [MESH:D016113] (238) 
 Ichthyosis, Lamellar [MESH:D017490] (81) 
 Ichthyosiform erythroderma, Brocq congenital, nonbullous form [MESH:C538603] (62)
 Keratoderma, Palmoplantar [MESH:D007645] (287) 
 Papillon-Lefevre Disease [MESH:D010214] (76) 
 Keratosis palmoplantaris with periodontopathia and onychogryposis [MESH:C537627] (73)
 Porokeratosis [MESH:D017499] (59) 
 Porokeratosis, disseminated superficial actinic 1 [MESH:C536339] (52)
 Porphyrias, Hepatic [MESH:D017094] (881) 
 Porphyria, Acute Intermittent [MESH:D017118] (61)
 Infant, Newborn, Diseases [MESH:D007232] (3064) 
 Diabetes Mellitus, Transient Neonatal, 2 [MESH:C563672] (42)
 Congenital Hyperinsulinism [MESH:D044903] (132)
 Cystic Fibrosis [MESH:D003550] (760)
 Hernia, Umbilical [MESH:D006554] (115)
 Infant, Premature, Diseases [MESH:D007235] (1292)
 Erythroblastosis, Fetal [MESH:D004899] (257) 
 Kernicterus [MESH:D007647] (256)
 Hyperbilirubinemia, Neonatal [MESH:D051556] (469) 
 Hyperbilirubinemia, Transient Familial Neonatal [MESH:C562692] (254)
 Ichthyosis [MESH:D007057] (476) 
 Ichthyosiform Erythroderma, Congenital [MESH:D016113] (238) 
 Ichthyosis, Lamellar [MESH:D017490] (81) 
 Ichthyosiform erythroderma, Brocq congenital, nonbullous form [MESH:C538603] (62)
 Severe Combined Immunodeficiency [MESH:D016511] (315) 
 Severe combined immunodeficiency with sensitivity to ionizing radiation [MESH:C537589] (23)
 Reticuloendotheliosis, familial, with eosinophilia [MESH:C538564] (44)
 Bare Lymphocyte Syndrome, Type I [MESH:C565759] (101)
C17. Skin and Connective Tissue Diseases 
C17. Skin and Connective Tissue Diseases
 Connective Tissue Diseases [MESH:D003240] (4490) 
 Marfan Syndrome [MESH:D008382] (646)
 Penile Induration [MESH:D010411] (495)
 Collagen Diseases [MESH:D003095] (1267) 
 Keloid [MESH:D007627] (1111)
 Ehlers-Danlos Syndrome [MESH:D004535] (491) 
 Ehlers-Danlos syndrome type 1 [MESH:C536194] (344)
 Ehlers-Danlos syndrome, cardiac valvular form [MESH:C536200] (152)
 Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant [MESH:C562625] (375)
 Osteogenesis Imperfecta [MESH:D010013] (481) 
 Osteogenesis imperfecta, type 2A [MESH:C536042] (375)
 Osteogenesis imperfecta, type 3 [MESH:C536044] (375)
 Osteogenesis imperfecta, type 4 [MESH:C536045] (375)
 Osteogenesis Imperfecta, Type IX [MESH:C564921] (46)
 Lupus Erythematosus, Systemic [MESH:D008180] (2317) 
 Lupus Nephritis [MESH:D008181] (602)
 Mucinoses [MESH:D017520] (177) 
 Mucopolysaccharidoses [MESH:D009083] (164) 
 Mucopolysaccharidosis VII [MESH:D016538] (88)
 Noonan Syndrome [MESH:D009634] (506) 
 Noonan Syndrome 5 [MESH:C548083] (169)
 Noonan Syndrome 6 [MESH:C548084] (44)
 Rheumatic Diseases [MESH:D012216] (3619) 
 Arthritis, Juvenile [MESH:D001171] (1060)
 Arthritis, Rheumatoid [MESH:D001172] (3603)
 Skin Diseases [MESH:D012871] (8774) 
 Exanthema [MESH:D005076] (301)
 Pruritus [MESH:D011537] (647)
 Acneiform Eruptions [MESH:D017486] (1312) 
 Chloracne [MESH:D054506] (1274)
 Breast Diseases [MESH:D001941] (6148) 
 Breast Neoplasms [MESH:D001943] (6077) 
 Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)
 Gynecomastia [MESH:D006177] (484) 
 Aromatase deficiency [MESH:C537436] (277)
 17-Hydroxysteroid Dehydrogenase Deficiency [MESH:C537805] (52)
 Dermatitis [MESH:D003872] (4530) 
 Dermatitis, Atopic [MESH:D003876] (2052)
 Eczema [MESH:D004485] (235)
 Dermatitis, Contact [MESH:D003877] (3394) 
 Dermatitis, Allergic Contact [MESH:D017449] (3241)
 Dermatitis, Occupational [MESH:D009783] (311)
 Drug Eruptions [MESH:D003875] (2697) 
 Serum Sickness [MESH:D012713] (484)
 Stevens-Johnson Syndrome [MESH:D013262] (1163)
 Erythema [MESH:D004890] (1330) 
 Erythema Multiforme [MESH:D004892] (1185) 
 Stevens-Johnson Syndrome [MESH:D013262] (1163)
 Facial Dermatoses [MESH:D005148] (1336) 
 Acneiform Eruptions [MESH:D017486] (1312) 
 Chloracne [MESH:D054506] (1274)
 Hair Diseases [MESH:D006201] (1891) 
 Bamforth syndrome [MESH:C537901] (186)
 Hypotrichosis [MESH:D007039] (1513) 
 Marie Unna congenital hypotrichosis [MESH:C535912] (24)
 Alopecia [MESH:D000505] (1453) 
 Alopecia universalis [MESH:C537055] (23)
 Atrichia with Papular Lesions [MESH:C565924] (23)
 Alopecia Areata [MESH:D000506] (168)
 Keratosis [MESH:D007642] (1941) 
 Ichthyosis [MESH:D007057] (481) 
 Ichthyosiform Erythroderma, Congenital [MESH:D016113] (238) 
 Ichthyosis, Lamellar [MESH:D017490] (81) 
 Ichthyosiform erythroderma, Brocq congenital, nonbullous form [MESH:C538603] (62)
 Keratoderma, Palmoplantar [MESH:D007645] (287) 
 Papillon-Lefevre Disease [MESH:D010214] (76) 
 Keratosis palmoplantaris with periodontopathia and onychogryposis [MESH:C537627] (73)
 Porokeratosis [MESH:D017499] (59) 
 Porokeratosis, disseminated superficial actinic 1 [MESH:C536339] (52)
 Pigmentation Disorders [MESH:D010859] (1215) 
 Griscelli syndrome type 1 [MESH:C537301] (42)
 Cafe-au-Lait Spots [MESH:D019080] (186)
 Hyperpigmentation [MESH:D017495] (523) 
 Melanosis [MESH:D008548] (459) 
 Acanthosis Nigricans [MESH:D000052] (203) 
 Cutis Gyrata Syndrome of Beare And Stevenson [MESH:C565129] (85)
 Lentigo [MESH:D007911] (329) 
 LEOPARD Syndrome [MESH:D044542] (299) 
 LEOPARD syndrome, 2 [MESH:C537117] (169)
 Hypopigmentation [MESH:D017496] (718) 
 Vitiligo [MESH:D014820] (504)
 Albinism [MESH:D000417] (359) 
 Piebaldism [MESH:D016116] (167) 
 Griscelli syndrome type 1 [MESH:C537301] (42)
 Scalp Dermatoses [MESH:D012536] (99) 
 Cutis Gyrata Syndrome of Beare And Stevenson [MESH:C565129] (85)
 Sebaceous Gland Diseases [MESH:D012625] (245) 
 Sebaceous Gland Neoplasms [MESH:D012626] (154)
 Skin Abnormalities [MESH:D012868] (1709) 
 Multiple pterygium syndrome [MESH:C537377] (23)
 Cutis Gyrata Syndrome of Beare And Stevenson [MESH:C565129] (85)
 Ectodermal Dysplasia [MESH:D004476] (958) 
 Cardiofaciocutaneous syndrome [MESH:C535579] (407)
 Zlotogora-Ogur syndrome [MESH:C536726] (25)
 Rosselli-Gulienetti Syndrome [MESH:C563117] (25)
 Ehlers-Danlos Syndrome [MESH:D004535] (491) 
 Ehlers-Danlos syndrome type 1 [MESH:C536194] (344)
 Ehlers-Danlos syndrome, cardiac valvular form [MESH:C536200] (152)
 Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant [MESH:C562625] (375)
 Epidermolysis Bullosa [MESH:D004820] (260) 
 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness [MESH:C563798] (43)
 Ichthyosis [MESH:D007057] (481) 
 Ichthyosiform Erythroderma, Congenital [MESH:D016113] (238) 
 Ichthyosis, Lamellar [MESH:D017490] (81) 
 Ichthyosiform erythroderma, Brocq congenital, nonbullous form [MESH:C538603] (62)
 Port-Wine Stain [MESH:D019339] (86) 
 Capillary Malformation-Arteriovenous Malformation [MESH:C564254] (50)
 Skin Diseases, Eczematous [MESH:D017443] (3740) 
 Dermatitis, Atopic [MESH:D003876] (2052)
 Eczema [MESH:D004485] (235)
 Dermatitis, Contact [MESH:D003877] (3394) 
 Dermatitis, Allergic Contact [MESH:D017449] (3241)
 Dermatitis, Occupational [MESH:D009783] (311)
 Skin Diseases, Genetic [MESH:D012873] (3481) 
 Osseous Heteroplasia, Progressive [MESH:C562735] (82)
 Dermatitis, Atopic [MESH:D003876] (2052)
 Albinism [MESH:D000417] (359) 
 Piebaldism [MESH:D016116] (167) 
 Griscelli syndrome type 1 [MESH:C537301] (42)
 Ectodermal Dysplasia [MESH:D004476] (958) 
 Cardiofaciocutaneous syndrome [MESH:C535579] (407)
 Zlotogora-Ogur syndrome [MESH:C536726] (25)
 Rosselli-Gulienetti Syndrome [MESH:C563117] (25)
 Ehlers-Danlos Syndrome [MESH:D004535] (491) 
 Ehlers-Danlos syndrome type 1 [MESH:C536194] (344)
 Ehlers-Danlos syndrome, cardiac valvular form [MESH:C536200] (152)
 Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant [MESH:C562625] (375)
 Epidermolysis Bullosa [MESH:D004820] (260) 
 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness [MESH:C563798] (43)
 Hereditary Autoinflammatory Diseases [MESH:D056660] (247) 
 Cryopyrin-Associated Periodic Syndromes [MESH:D056587] (102)
 Ichthyosiform Erythroderma, Congenital [MESH:D016113] (238) 
 Ichthyosis, Lamellar [MESH:D017490] (81) 
 Ichthyosiform erythroderma, Brocq congenital, nonbullous form [MESH:C538603] (62)
 Keratoderma, Palmoplantar [MESH:D007645] (287) 
 Papillon-Lefevre Disease [MESH:D010214] (76) 
 Keratosis palmoplantaris with periodontopathia and onychogryposis [MESH:C537627] (73)
 Porokeratosis [MESH:D017499] (59) 
 Porokeratosis, disseminated superficial actinic 1 [MESH:C536339] (52)
 Porphyrias, Hepatic [MESH:D017094] (881) 
 Porphyria, Acute Intermittent [MESH:D017118] (61)
 Skin Diseases, Infectious [MESH:D012874] (2684) 
 Dermatomycoses [MESH:D003881] (267) 
 Candidiasis, Chronic Mucocutaneous [MESH:D002178] (224)
 Skin Diseases, Parasitic [MESH:D012876] (2526) 
 Leishmaniasis [MESH:D007896] (2516) 
 Leishmaniasis, Cutaneous [MESH:D016773] (2359)
 Skin Diseases, Viral [MESH:D017193] (203) 
 Warts [MESH:D014860] (172) 
 WHIM syndrome [MESH:C536697] (148)
 Skin Diseases, Metabolic [MESH:D012875] (1574) 
 Lipodystrophy [MESH:D008060] (930) 
 Mandibuloacral dysplasia with type A lipodystrophy [MESH:C535705] (490)
 Porphyrias [MESH:D011164] (917) 
 Porphyrias, Hepatic [MESH:D017094] (881) 
 Porphyria, Acute Intermittent [MESH:D017118] (61)
 Skin Diseases, Papulosquamous [MESH:D017444] (3392) 
 Psoriasis [MESH:D011565] (3278) 
 Arthritis, Psoriatic [MESH:D015535] (1859)
 Skin Diseases, Vascular [MESH:D017445] (3288) 
 Behcet Syndrome [MESH:D001528] (1784)
 Urticaria [MESH:D014581] (2668) 
 Angioedema [MESH:D000799] (837)
 Skin Diseases, Vesiculobullous [MESH:D012872] (1754) 
 Atrichia with Papular Lesions [MESH:C565924] (23)
 Epidermolysis Bullosa [MESH:D004820] (260) 
 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness [MESH:C563798] (43)
 Erythema Multiforme [MESH:D004892] (1185) 
 Stevens-Johnson Syndrome [MESH:D013262] (1163)
 Skin Neoplasms [MESH:D012878] (2991) 
 Sebaceous Gland Neoplasms [MESH:D012626] (154)
C18. Nutritional and Metabolic Diseases 
C18. Nutritional and Metabolic Diseases
 Z. Exceptions (817) 
 Not Fully Specified [NFS] (817)
 Metabolic Diseases [MESH:D008659] (9025) 
 Metabolic Syndrome X [MESH:D024821] (2151)
 Acid-Base Imbalance [MESH:D000137] (854) 
 Acidosis [MESH:D000138] (626) 
 Acidosis, Renal Tubular [MESH:D000141] (225) 
 Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation [MESH:C567038] (48)
 Brain Diseases, Metabolic [MESH:D001928] (3350) 
 Kernicterus [MESH:D007647] (256)
 Brain Diseases, Metabolic, Inborn [MESH:D020739] (2634) 
 Cerebral Amyloid Angiopathy, Familial [MESH:D028243] (377)
 Hyperglycinemia, Nonketotic [MESH:D020158] (67)
 Leigh Disease [MESH:D007888] (206)
 Maple Syrup Urine Disease [MESH:D008375] (127)
 Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497) 
 Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178)
 Canavan Disease [MESH:D017825] (29)
 Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636) 
 Sialic Acid Storage Disease [MESH:D029461] (63)
 Sphingolipidoses [MESH:D013106] (582) 
 Farber Lipogranulomatosis [MESH:D055577] (62)
 Gaucher Disease [MESH:D005776] (299)
 Peroxisomal Disorders [MESH:D018901] (1472) 
 Peroxisome biogenesis disorders [MESH:C536664] (101)
 Mevalonate Kinase Deficiency [MESH:D054078] (38)
 Refsum Disease, Infantile [MESH:D052919] (51)
 Zellweger Syndrome [MESH:D015211] (182)
 Phenylketonurias [MESH:D010661] (156) 
 Hyperphenylalaninemia, BH4-Deficient, B [MESH:C562656] (97)
 Urea Cycle Disorders, Inborn [MESH:D056806] (315) 
 Hyperargininemia [MESH:D020162] (109)
 Hepatic Encephalopathy [MESH:D006501] (1795) 
 Combined Oxidative Phosphorylation Deficiency 1 [MESH:C563797] (24)
 Calcium Metabolism Disorders [MESH:D002128] (3634) 
 Hypocalcemia [MESH:D006996] (378)
 Calcinosis [MESH:D002114] (2989) 
 Idiopathic basal ganglia calcification 1 [MESH:C536275] (139)
 Aortic Valve, Calcification of [MESH:C562942] (655)
 Tropical Calcific Pancreatitis [MESH:C564276] (33)
 Nephrocalcinosis [MESH:D009397] (311) 
 Hypomagnesemia primary [MESH:C537153] (35)
 Vascular Calcification [MESH:D061205] (138) 
 Arterial calcification of infancy [MESH:C537440] (48)
 Hypercalcemia [MESH:D006934] (1999) 
 Familial benign hypercalcemia, type 3 [MESH:C537147] (18)
 Pseudohypoparathyroidism [MESH:D011547] (88) 
 Albright's hereditary osteodystrophy [MESH:C537045] (82)
 Pseudohypoparathyroidism Type 1B [MESH:C548075] (82)
 Pseudopseudohypoparathyroidism [MESH:D011556] (82)
 Rickets [MESH:D012279] (341) 
 Rickets, Hypophosphatemic [MESH:D063730] (276) 
 Familial Hypophosphatemic Rickets [MESH:D053098] (274) 
 Vitamin D Hydroxylation-Deficient Rickets, Type 1A [MESH:C562688] (58)
 Hypophosphatemic Rickets, Autosomal Recessive, 2 [MESH:C567647] (48)
 DNA Repair-Deficiency Disorders [MESH:D049914] (2245) 
 Li-Fraumeni Syndrome [MESH:D016864] (859)
 Severe Combined Immunodeficiency [MESH:D016511] (294) 
 Severe combined immunodeficiency with sensitivity to ionizing radiation [MESH:C537589] (23)
 Reticuloendotheliosis, familial, with eosinophilia [MESH:C538564] (44)
 Bare Lymphocyte Syndrome, Type I [MESH:C565759] (101)
 Glucose Metabolism Disorders [MESH:D044882] (6122) 
 Diabetes Mellitus [MESH:D003920] (5891) 
 Diabetes Mellitus, Permanent Neonatal [MESH:C563425] (321)
 Diabetes Mellitus, Transient Neonatal, 2 [MESH:C563672] (42)
 Diabetes Mellitus, Transient Neonatal, 3 [MESH:C566432] (37)
 Diabetes Mellitus, Experimental [MESH:D003921] (4771)
 Diabetes, Gestational [MESH:D016640] (1152)
 Diabetes Mellitus, Type 1 [MESH:D003922] (1897) 
 Diabetes Mellitus, Insulin-Dependent, 12 [MESH:C563326] (23)
 Diabetes Mellitus, Insulin-Dependent, 10 [MESH:C566602] (88)
 Diabetes Mellitus, Type 2 [MESH:D003924] (4219) 
 Maturity-Onset Diabetes of the Young, Type 4 [MESH:C563451] (44)
 Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction [MESH:C565225] (56)
 Hyperglycemia [MESH:D006943] (1858) 
 Glucose Intolerance [MESH:D018149] (605)
 Hyperinsulinism [MESH:D006946] (3586) 
 Hyperinsulinemic Hypoglycemia, Familial, 4 [MESH:C566493] (80)
 Congenital Hyperinsulinism [MESH:D044903] (132)
 Insulin Resistance [MESH:D007333] (3511) 
 Metabolic Syndrome X [MESH:D024821] (2151)
 Hypoglycemia [MESH:D007003] (2420) 
 Hypoglycemia, leucine-induced [MESH:C537150] (43)
 ACTH Deficiency, Isolated [MESH:C562707] (124)
 Hyperinsulinemic Hypoglycemia, Familial, 4 [MESH:C566493] (80)
 Congenital Hyperinsulinism [MESH:D044903] (132)
 Iron Metabolism Disorders [MESH:D019189] (2139) 
 Iron Overload [MESH:D019190] (1772) 
 Hemochromatosis [MESH:D006432] (1694)
 Lipid Metabolism Disorders [MESH:D052439] (3225) 
 Dyslipidemias [MESH:D050171] (2428) 
 Hyperlipidemias [MESH:D006949] (1908) 
 Hypercholesterolemia [MESH:D006937] (1404)
 Hyperlipidemia, Familial Combined [MESH:D006950] (372)
 Hypertriglyceridemia [MESH:D015228] (808)
 Hyperlipoproteinemias [MESH:D006951] (903) 
 Hyperlipoproteinemia Type II [MESH:D006938] (707)
 Hypolipoproteinemias [MESH:D007009] (409) 
 Hypoalphalipoproteinemias [MESH:D052456] (323) 
 Lecithin Acyltransferase Deficiency [MESH:D007863] (72)
 Hypobetalipoproteinemias [MESH:D006995] (181) 
 Hypobetalipoproteinemia, Familial, Apolipoprotein B [MESH:D052476] (131)
 Lipid Metabolism, Inborn Errors [MESH:D008052] (461) 
 Medium chain acyl CoA dehydrogenase deficiency [MESH:C536038] (92)
 VLCAD deficiency [MESH:C536353] (55)
 Lipodystrophy [MESH:D008060] (930) 
 Mandibuloacral dysplasia with type A lipodystrophy [MESH:C535705] (490)
 Lipidoses [MESH:D008064] (1655) 
 Neuronal Ceroid-Lipofuscinoses [MESH:D009472] (1026) 
 Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)
 Ceroid Lipofuscinosis, Neuronal, 10 [MESH:C566438] (159)
 Ceroid Lipofuscinosis, Neuronal, 2 [MESH:C566857] (39)
 Sphingolipidoses [MESH:D013106] (582) 
 Farber Lipogranulomatosis [MESH:D055577] (62)
 Gaucher Disease [MESH:D005776] (299)
 Malabsorption Syndromes [MESH:D008286] (1869) 
 Celiac Disease [MESH:D002446] (340)
 Hyperhomocysteinemia [MESH:D020138] (1716)
 Metabolism, Inborn Errors [MESH:D008661] (6028) 
 3-Hydroxyacyl-CoA Dehydrogenase Deficiency [MESH:C535310] (80)
 Butyrylcholinesterase deficiency [MESH:C537417] (176)
 Aromatase deficiency [MESH:C537436] (277)
 Xanthinuria, Type I [MESH:C562584] (190)
 Combined Oxidative Phosphorylation Deficiency 1 [MESH:C563797] (24)
 Mitochondrial Complex II Deficiency [MESH:C565375] (66)
 Amino Acid Metabolism, Inborn Errors [MESH:D000592] (2559) 
 Hydroxykynureninuria [MESH:C536081] (52)
 Methylmalonic acidemia [MESH:C537358] (764)
 Glycine N-Methyltransferase Deficiency [MESH:C564683] (72)
 Methylmalonic Aciduria and Homocystinuria, CblF Type [MESH:C564747] (21)
 Hyperglycinemia, Nonketotic [MESH:D020158] (67)
 Hyperhomocysteinemia [MESH:D020138] (1724)
 Maple Syrup Urine Disease [MESH:D008375] (127)
 Albinism [MESH:D000417] (359) 
 Piebaldism [MESH:D016116] (167) 
 Griscelli syndrome type 1 [MESH:C537301] (42)
 Phenylketonurias [MESH:D010661] (156) 
 Hyperphenylalaninemia, BH4-Deficient, B [MESH:C562656] (97)
 Urea Cycle Disorders, Inborn [MESH:D056806] (315) 
 Hyperargininemia [MESH:D020162] (109)
 Amyloidosis, Familial [MESH:D028226] (696) 
 Amyloidosis, familial visceral [MESH:C538249] (285)
 Cerebral Amyloid Angiopathy, Familial [MESH:D028243] (377)
 Brain Diseases, Metabolic, Inborn [MESH:D020739] (2634) 
 Cerebral Amyloid Angiopathy, Familial [MESH:D028243] (377)
 Hyperglycinemia, Nonketotic [MESH:D020158] (67)
 Leigh Disease [MESH:D007888] (206)
 Maple Syrup Urine Disease [MESH:D008375] (127)
 Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497) 
 Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178)
 Canavan Disease [MESH:D017825] (29)
 Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636) 
 Sialic Acid Storage Disease [MESH:D029461] (63)
 Sphingolipidoses [MESH:D013106] (582) 
 Farber Lipogranulomatosis [MESH:D055577] (62)
 Gaucher Disease [MESH:D005776] (299)
 Peroxisomal Disorders [MESH:D018901] (1472) 
 Peroxisome biogenesis disorders [MESH:C536664] (101)
 Mevalonate Kinase Deficiency [MESH:D054078] (38)
 Refsum Disease, Infantile [MESH:D052919] (51)
 Zellweger Syndrome [MESH:D015211] (182)
 Phenylketonurias [MESH:D010661] (156) 
 Hyperphenylalaninemia, BH4-Deficient, B [MESH:C562656] (97)
 Urea Cycle Disorders, Inborn [MESH:D056806] (315) 
 Hyperargininemia [MESH:D020162] (109)
 Carbohydrate Metabolism, Inborn Errors [MESH:D002239] (1100) 
 Hyperglycerolemia [MESH:C538138] (46)
 Fructose Metabolism, Inborn Errors [MESH:D015318] (125) 
 Fructose-1,6-Diphosphatase Deficiency [MESH:D015319] (72)
 Fructose Intolerance [MESH:D005633] (59)
 Glycogen Storage Disease [MESH:D006008] (530) 
 Glycogen Storage Disease Type V [MESH:D006012] (165)
 Glycogen Storage Disease Type VII [MESH:D006014] (37)
 Hyperoxaluria, Primary [MESH:D006960] (63) 
 Primary hyperoxaluria type 1 [MESH:C536414] (48)
 Mucopolysaccharidoses [MESH:D009083] (164) 
 Mucopolysaccharidosis VII [MESH:D016538] (88)
 Pyruvate Metabolism, Inborn Errors [MESH:D015323] (324) 
 Pyruvate Kinase Deficiency of Red Cells [MESH:C564858] (78)
 Leigh Disease [MESH:D007888] (206)
 Hyperbilirubinemia, Hereditary [MESH:D006933] (476) 
 Hyperbilirubinemia, Transient Familial Neonatal [MESH:C562692] (254)
 Gilbert Disease [MESH:D005878] (259)
 Crigler-Najjar Syndrome [MESH:D003414] (255) 
 Crigler Najjar syndrome, type 2 [MESH:C536213] (254)
 Lipid Metabolism, Inborn Errors [MESH:D008052] (2071) 
 Medium chain acyl CoA dehydrogenase deficiency [MESH:C536038] (92)
 VLCAD deficiency [MESH:C536353] (55)
 Hyperlipidemia, Familial Combined [MESH:D006950] (372)
 Hyperlipoproteinemia Type II [MESH:D006938] (707)
 Hypolipoproteinemias [MESH:D007009] (365) 
 Hypoalphalipoproteinemias [MESH:D052456] (323) 
 Lecithin Acyltransferase Deficiency [MESH:D007863] (72)
 Lipidoses [MESH:D008064] (1655) 
 Neuronal Ceroid-Lipofuscinoses [MESH:D009472] (1026) 
 Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)
 Ceroid Lipofuscinosis, Neuronal, 10 [MESH:C566438] (159)
 Ceroid Lipofuscinosis, Neuronal, 2 [MESH:C566857] (39)
 Sphingolipidoses [MESH:D013106] (582) 
 Farber Lipogranulomatosis [MESH:D055577] (62)
 Gaucher Disease [MESH:D005776] (299)
 Lysosomal Storage Diseases [MESH:D016464] (761) 
 Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636) 
 Sialic Acid Storage Disease [MESH:D029461] (63)
 Sphingolipidoses [MESH:D013106] (582) 
 Farber Lipogranulomatosis [MESH:D055577] (62)
 Gaucher Disease [MESH:D005776] (299)
 Mucopolysaccharidoses [MESH:D009083] (164) 
 Mucopolysaccharidosis VII [MESH:D016538] (88)
 Metal Metabolism, Inborn Errors [MESH:D008664] (2017) 
 Hemochromatosis [MESH:D006432] (1694)
 Hypophosphatemia, Familial [MESH:D007015] (276) 
 Familial Hypophosphatemic Rickets [MESH:D053098] (274) 
 Vitamin D Hydroxylation-Deficient Rickets, Type 1A [MESH:C562688] (58)
 Hypophosphatemic Rickets, Autosomal Recessive, 2 [MESH:C567647] (48)
 Pseudohypoparathyroidism [MESH:D011547] (88) 
 Albright's hereditary osteodystrophy [MESH:C537045] (82)
 Pseudohypoparathyroidism Type 1B [MESH:C548075] (82)
 Pseudopseudohypoparathyroidism [MESH:D011556] (82)
 Peroxisomal Disorders [MESH:D018901] (1788) 
 Peroxisome biogenesis disorders [MESH:C536664] (101)
 Mevalonate Kinase Deficiency [MESH:D054078] (38)
 Refsum Disease, Infantile [MESH:D052919] (51)
 Zellweger Syndrome [MESH:D015211] (182)
 Chondrodysplasia Punctata, Rhizomelic [MESH:D018902] (53) 
 Rhizomelic chondrodysplasia punctata, type 3 [MESH:C537608] (26)
 Porphyrias [MESH:D011164] (917) 
 Porphyrias, Hepatic [MESH:D017094] (881) 
 Porphyria, Acute Intermittent [MESH:D017118] (61)
 Purine-Pyrimidine Metabolism, Inborn Errors [MESH:D011686] (496) 
 Adenosine monophosphate deaminase deficiency [MESH:C538234] (13)
 Beta-Ureidopropionase Deficiency [MESH:C563210] (35)
 Renal Tubular Transport, Inborn Errors [MESH:D015499] (1026) 
 Hypomagnesemia 2, renal [MESH:C537152] (38)
 Hypomagnesemia primary [MESH:C537153] (35)
 Fanconi Syndrome [MESH:D005198] (253)
 Liddle Syndrome [MESH:D056929] (200)
 Pseudohypoaldosteronism [MESH:D011546] (232)
 Acidosis, Renal Tubular [MESH:D000141] (225) 
 Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation [MESH:C567038] (48)
 Hypophosphatemia, Familial [MESH:D007015] (276) 
 Familial Hypophosphatemic Rickets [MESH:D053098] (274) 
 Vitamin D Hydroxylation-Deficient Rickets, Type 1A [MESH:C562688] (58)
 Hypophosphatemic Rickets, Autosomal Recessive, 2 [MESH:C567647] (48)
 Renal Aminoacidurias [MESH:D000608] (89) 
 Cystinuria [MESH:D003555] (67) 
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Steroid Metabolism, Inborn Errors [MESH:D043202] (962) 
 17-Hydroxysteroid Dehydrogenase Deficiency [MESH:C537805] (52)
 Hypercholanemia, Familial [MESH:C564336] (58)
 Antley-Bixler Syndrome Phenotype [MESH:D054882] (284)
 Mitochondrial Diseases [MESH:D028361] (2561) 
 VLCAD deficiency [MESH:C536353] (55)
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Mitochondrial Complex II Deficiency [MESH:C565375] (66)
 Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178)
 Leigh Disease [MESH:D007888] (206)
 Optic Atrophy, Autosomal Dominant [MESH:D029241] (31)
 Phosphorus Metabolism Disorders [MESH:D010760] (711) 
 Hyperphosphatemia [MESH:D054559] (159)
 Hypophosphatemia [MESH:D017674] (640) 
 Hypophosphatemia, Familial [MESH:D007015] (276) 
 Familial Hypophosphatemic Rickets [MESH:D053098] (274) 
 Vitamin D Hydroxylation-Deficient Rickets, Type 1A [MESH:C562688] (58)
 Hypophosphatemic Rickets, Autosomal Recessive, 2 [MESH:C567647] (48)
 Rickets, Hypophosphatemic [MESH:D063730] (276) 
 Familial Hypophosphatemic Rickets [MESH:D053098] (274) 
 Vitamin D Hydroxylation-Deficient Rickets, Type 1A [MESH:C562688] (58)
 Hypophosphatemic Rickets, Autosomal Recessive, 2 [MESH:C567647] (48)
 Porphyrias [MESH:D011164] (917) 
 Porphyrias, Hepatic [MESH:D017094] (881) 
 Porphyria, Acute Intermittent [MESH:D017118] (61)
 Proteostasis Deficiencies [MESH:D057165] (3522) 
 Amyloidosis [MESH:D000686] (791) 
 Amyloidosis, Familial [MESH:D028226] (696) 
 Amyloidosis, familial visceral [MESH:C538249] (285)
 Cerebral Amyloid Angiopathy, Familial [MESH:D028243] (377)
 Cerebral Amyloid Angiopathy [MESH:D016657] (470) 
 Cerebral Amyloid Angiopathy, Familial [MESH:D028243] (377)
 TDP-43 Proteinopathies [MESH:D057177] (3337) 
 Amyotrophic Lateral Sclerosis [MESH:D000690] (3296) 
 Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559)
 Frontotemporal Lobar Degeneration [MESH:D057174] (308) 
 Frontotemporal Dementia [MESH:D057180] (298)
 Skin Diseases, Metabolic [MESH:D012875] (1574) 
 Lipodystrophy [MESH:D008060] (930) 
 Mandibuloacral dysplasia with type A lipodystrophy [MESH:C535705] (490)
 Porphyrias [MESH:D011164] (917) 
 Porphyrias, Hepatic [MESH:D017094] (881) 
 Porphyria, Acute Intermittent [MESH:D017118] (61)
 Water-Electrolyte Imbalance [MESH:D014883] (2790) 
 Hypocalcemia [MESH:D006996] (368)
 Hyponatremia [MESH:D007010] (789)
 Water Intoxication [MESH:D014869] (106)
 Hypercalcemia [MESH:D006934] (1999) 
 Familial benign hypercalcemia, type 3 [MESH:C537147] (18)
 Nutrition Disorders [MESH:D009748] (4945) 
 Malnutrition [MESH:D044342] (2754) 
 Deficiency Diseases [MESH:D003677] (2742) 
 Magnesium Deficiency [MESH:D008275] (44)
 Avitaminosis [MESH:D001361] (2304) 
 Vitamin A Deficiency [MESH:D014802] (705) 
 Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant [MESH:C567296] (31)
 Vitamin B Deficiency [MESH:D014804] (1817) 
 Hyperhomocysteinemia [MESH:D020138] (1716)
 Vitamin D Deficiency [MESH:D014808] (360) 
 Rickets [MESH:D012279] (341) 
 Rickets, Hypophosphatemic [MESH:D063730] (276) 
 Familial Hypophosphatemic Rickets [MESH:D053098] (274) 
 Vitamin D Hydroxylation-Deficient Rickets, Type 1A [MESH:C562688] (58)
 Hypophosphatemic Rickets, Autosomal Recessive, 2 [MESH:C567647] (48)
 Vitamin E Deficiency [MESH:D014811] (274) 
 Ataxia with vitamin E deficiency [MESH:C535393] (271)
 Overnutrition [MESH:D044343] (4463) 
 Obesity [MESH:D009765] (4462) 
 Prader-Willi Syndrome [MESH:D011218] (46)
C19. Endocrine System Diseases 
C19. Endocrine System Diseases
 Z. Exceptions (123) 
 Not Fully Specified [NFS] (123)
 Endocrine System Diseases [MESH:D004700] (8062) 
 ACTH Deficiency, Isolated [MESH:C562707] (124)
 Endocrine-Cerebroosteodysplasia [MESH:C567210] (26)
 Bone Diseases, Endocrine [MESH:D001849] (173)
 Adrenal Gland Diseases [MESH:D000307] (2397) 
 Adrenal Cortex Diseases [MESH:D000303] (969) 
 Adrenal Cortex Neoplasms [MESH:D000306] (823) 
 Adrenocortical Carcinoma [MESH:D018268] (821) 
 Adrenocortical Carcinoma, Hereditary [MESH:C565972] (769)
 Adrenal Gland Neoplasms [MESH:D000310] (917) 
 Adrenal Cortex Neoplasms [MESH:D000306] (823) 
 Adrenocortical Carcinoma [MESH:D018268] (821) 
 Adrenocortical Carcinoma, Hereditary [MESH:C565972] (769)
 Adrenocortical Hyperfunction [MESH:D000308] (618) 
 Cushing Syndrome [MESH:D003480] (282)
 Hyperaldosteronism [MESH:D006929] (419) 
 Bartter Syndrome [MESH:D001477] (241) 
 Bartter syndrome, antenatal , type 2 [MESH:C537651] (30)
 Diabetes Mellitus [MESH:D003920] (6159) 
 Diabetes Mellitus, Permanent Neonatal [MESH:C563425] (321)
 Diabetes Mellitus, Transient Neonatal, 2 [MESH:C563672] (42)
 Diabetes Mellitus, Transient Neonatal, 3 [MESH:C566432] (37)
 Diabetes, Gestational [MESH:D016640] (1152)
 Diabetes Mellitus, Experimental [MESH:D003921] (4771)
 Diabetes Complications [MESH:D048909] (4129) 
 Diabetic Cardiomyopathies [MESH:D058065] (1995)
 Diabetic Nephropathies [MESH:D003928] (2301)
 Diabetic Neuropathies [MESH:D003929] (2443)
 Diabetic Angiopathies [MESH:D003925] (1984) 
 Diabetic Retinopathy [MESH:D003930] (1371)
 Diabetes Mellitus, Type 1 [MESH:D003922] (1897) 
 Diabetes Mellitus, Insulin-Dependent, 12 [MESH:C563326] (23)
 Diabetes Mellitus, Insulin-Dependent, 10 [MESH:C566602] (88)
 Diabetes Mellitus, Type 2 [MESH:D003924] (4219) 
 Maturity-Onset Diabetes of the Young, Type 4 [MESH:C563451] (44)
 Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction [MESH:C565225] (56)
 Dwarfism [MESH:D004392] (698) 
 Parastremmatic dwarfism [MESH:C537172] (39)
 Metatropic dwarfism [MESH:C537356] (39)
 Isolated Growth Hormone Deficiency, Type IB [MESH:C567564] (140)
 Congenital Hypothyroidism [MESH:D003409] (266) 
 Hypothyroidism, Congenital, Nongoitrous, 2 [MESH:C566852] (30)
 Endocrine Gland Neoplasms [MESH:D004701] (4925) 
 Testicular Neoplasms [MESH:D013736] (520)
 Adrenal Gland Neoplasms [MESH:D000310] (917) 
 Adrenal Cortex Neoplasms [MESH:D000306] (823) 
 Adrenocortical Carcinoma [MESH:D018268] (821) 
 Adrenocortical Carcinoma, Hereditary [MESH:C565972] (769)
 Ovarian Neoplasms [MESH:D010051] (3275) 
 Ovarian epithelial cancer [MESH:C538090] (57)
 Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)
 Pancreatic Neoplasms [MESH:D010190] (3820) 
 Pancreatic cancer, adult [MESH:C535836] (572)
 Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)
 Pituitary Neoplasms [MESH:D010911] (981) 
 ACTH-Secreting Pituitary Adenoma [MESH:D049913] (172)
 Growth Hormone-Secreting Pituitary Adenoma [MESH:D049912] (383)
 Prolactinoma [MESH:D015175] (312)
 Thyroid Neoplasms [MESH:D013964] (2040) 
 Thyroid cancer, papillary [MESH:C536915] (111)
 Gonadal Disorders [MESH:D006058] (5088) 
 Puberty, Delayed [MESH:D011628] (449)
 Puberty, Precocious [MESH:D011629] (1147)
 Disorders of Sex Development [MESH:D012734] (1637) 
 46, XX Disorders of Sex Development [MESH:D058489] (644) 
 Aromatase deficiency [MESH:C537436] (277)
 46, XY Disorders of Sex Development [MESH:D058490] (1060) 
 Persistent Mullerian duct syndrome [MESH:C536665] (47)
 17-Hydroxysteroid Dehydrogenase Deficiency [MESH:C537805] (52)
 Denys-Drash Syndrome [MESH:D030321] (57)
 Frasier Syndrome [MESH:D052159] (57)
 Kallmann Syndrome [MESH:D017436] (147)
 WAGR Syndrome [MESH:D017624] (270)
 Gonadal Dysgenesis, 46,XY [MESH:D006061] (131) 
 Meacham Winn Culler syndrome [MESH:C538162] (57)
 Gonadal Dysgenesis [MESH:D006059] (492) 
 Sexual Infantilism [MESH:D050035] (277)
 Gonadal Dysgenesis, 46,XY [MESH:D006061] (131) 
 Meacham Winn Culler syndrome [MESH:C538162] (57)
 Hypogonadism [MESH:D007006] (1123) 
 Kallmann Syndrome [MESH:D017436] (147)
 Sexual Infantilism [MESH:D050035] (277)
 Ovarian Diseases [MESH:D010049] (4253) 
 Ovarian Cysts [MESH:D010048] (2534) 
 Polycystic Ovary Syndrome [MESH:D011085] (2186)
 Ovarian Neoplasms [MESH:D010051] (3281) 
 Ovarian epithelial cancer [MESH:C538090] (57)
 Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)
 Testicular Diseases [MESH:D013733] (777) 
 Cryptorchidism [MESH:D003456] (215)
 Testicular Neoplasms [MESH:D013736] (520)
 Parathyroid Diseases [MESH:D010279] (1604) 
 Hyperparathyroidism [MESH:D006961] (1475) 
 Hyperparathyroidism, Secondary [MESH:D006962] (1138)
 Hypoparathyroidism [MESH:D007011] (376) 
 Hypoparathyroidism familial isolated [MESH:C537156] (108)
 22q11 Deletion Syndrome [MESH:D058165] (237) 
 DiGeorge Syndrome [MESH:D004062] (236)
 Pituitary Diseases [MESH:D010900] (1829) 
 Isolated Growth Hormone Deficiency, Type IB [MESH:C567564] (140)
 Hypopituitarism [MESH:D007018] (732)
 Pituitary Apoplexy [MESH:D010899] (125)
 Hyperpituitarism [MESH:D006964] (1259) 
 Acromegaly [MESH:D000172] (466)
 Hyperprolactinemia [MESH:D006966] (603)
 Pituitary Neoplasms [MESH:D010911] (981) 
 ACTH-Secreting Pituitary Adenoma [MESH:D049913] (172)
 Growth Hormone-Secreting Pituitary Adenoma [MESH:D049912] (383)
 Prolactinoma [MESH:D015175] (312)
 Thyroid Diseases [MESH:D013959] (2808) 
 Goiter [MESH:D006042] (359) 
 Graves Disease [MESH:D006111] (278)
 Hyperthyroidism [MESH:D006980] (1191) 
 Graves Disease [MESH:D006111] (278)
 Hyperthyroxinemia [MESH:D006981] (659) 
 Hyperthyroxinemia, Familial Dysalbuminemic [MESH:D050010] (478)
 Hypothyroidism [MESH:D007037] (496) 
 Bamforth syndrome [MESH:C537901] (186)
 Congenital Hypothyroidism [MESH:D003409] (266) 
 Hypothyroidism, Congenital, Nongoitrous, 2 [MESH:C566852] (30)
 Thyroid Dysgenesis [MESH:D050033] (33) 
 Hypothyroidism, Congenital, Nongoitrous, 2 [MESH:C566852] (30)
 Thyroid Neoplasms [MESH:D013964] (2040) 
 Thyroid cancer, papillary [MESH:C536915] (111)
 Thyroiditis [MESH:D013966] (158) 
 Thyroiditis, Autoimmune [MESH:D013967] (149) 
 Hashimoto Disease [MESH:D050031] (98)
C20. Immune System Diseases 
C20. Immune System Diseases
 Z. Exceptions (350) 
 Not Fully Specified [NFS] (350)
 Immune System Diseases [MESH:D007154] (7674) 
 Glomerulonephritis, Membranoproliferative [MESH:D015432] (770)
 Graft vs Host Disease [MESH:D006086] (674)
 Autoimmune Diseases [MESH:D001327] (5067) 
 Arthritis, Juvenile [MESH:D001171] (1060)
 Arthritis, Rheumatoid [MESH:D001172] (3601)
 Autoimmune Lymphoproliferative Syndrome [MESH:D056735] (704)
 Glomerulonephritis, IGA [MESH:D005922] (897)
 Glomerulonephritis, Membranous [MESH:D015433] (642)
 Graves Disease [MESH:D006111] (278)
 Hepatitis, Autoimmune [MESH:D019693] (1982)
 Autoimmune Diseases of the Nervous System [MESH:D020274] (2238) 
 Demyelinating Autoimmune Diseases, CNS [MESH:D020278] (1732) 
 Multiple Sclerosis [MESH:D009103] (1716)
 Diabetes Mellitus, Type 1 [MESH:D003922] (1893) 
 Diabetes Mellitus, Insulin-Dependent, 12 [MESH:C563326] (23)
 Diabetes Mellitus, Insulin-Dependent, 10 [MESH:C566602] (88)
 Lupus Erythematosus, Systemic [MESH:D008180] (2317) 
 Lupus Nephritis [MESH:D008181] (602)
 Blood Group Incompatibility [MESH:D001787] (277) 
 Erythroblastosis, Fetal [MESH:D004899] (275) 
 Kernicterus [MESH:D007647] (256)
 Hypersensitivity [MESH:D006967] (5873) 
 Drug Hypersensitivity [MESH:D004342] (4000) 
 Asthma, Aspirin-Induced [MESH:D055963] (1055)
 Drug Eruptions [MESH:D003875] (2695) 
 Serum Sickness [MESH:D012713] (484)
 Stevens-Johnson Syndrome [MESH:D013262] (1163)
 Hypersensitivity, Delayed [MESH:D006968] (3408) 
 Dermatitis, Allergic Contact [MESH:D017449] (3241)
 Hypersensitivity, Immediate [MESH:D006969] (4980) 
 Anaphylaxis [MESH:D000707] (299)
 Asthma, Aspirin-Induced [MESH:D055963] (1055)
 Dermatitis, Atopic [MESH:D003876] (2052)
 Food Hypersensitivity [MESH:D005512] (608) 
 Peanut Hypersensitivity [MESH:D021183] (572)
 Respiratory Hypersensitivity [MESH:D012130] (4250) 
 Asthma [MESH:D001249] (3914)
 Rhinitis, Allergic, Perennial [MESH:D012221] (625)
 Urticaria [MESH:D014581] (2668) 
 Angioedema [MESH:D000799] (837)
 Immune Complex Diseases [MESH:D007105] (782) 
 Serum Sickness [MESH:D012713] (484)
 Immunologic Deficiency Syndromes [MESH:D007153] (3788) 
 WHIM syndrome [MESH:C536697] (148)
 CD8 Deficiency, Familial [MESH:C563824] (41)
 Interleukin 2 Receptor, Alpha, Deficiency of [MESH:C565232] (88)
 Agammaglobulinemia [MESH:D000361] (156)
 Common Variable Immunodeficiency [MESH:D017074] (70)
 HIV Infections [MESH:D015658] (3402) 
 HIV Seropositivity [MESH:D006679] (480)
 AIDS-Related Opportunistic Infections [MESH:D017088] (944) 
 AIDS-related Kaposi sarcoma [MESH:C554498] (914)
 Phagocyte Bactericidal Dysfunction [MESH:D010585] (999) 
 Granulomatous Disease, Chronic [MESH:D006105] (404) 
 Granulomatous Disease, Chronic, X-Linked [MESH:C564417] (111)
 Severe Combined Immunodeficiency [MESH:D016511] (315) 
 Severe combined immunodeficiency with sensitivity to ionizing radiation [MESH:C537589] (23)
 Reticuloendotheliosis, familial, with eosinophilia [MESH:C538564] (44)
 Bare Lymphocyte Syndrome, Type I [MESH:C565759] (101)
 Immunoproliferative Disorders [MESH:D007160] (4761) 
 Hypergammaglobulinemia [MESH:D006942] (137) 
 Mevalonate Kinase Deficiency [MESH:D054078] (38)
 Lymphoproliferative Disorders [MESH:D008232] (4734) 
 Autoimmune Lymphoproliferative Syndrome [MESH:D056735] (704)
 Multiple Myeloma [MESH:D009101] (2767)
 Leukemia, Lymphoid [MESH:D007945] (3047) 
 Leukemia, T-Cell [MESH:D015458] (395)
 Leukemia, B-Cell [MESH:D015448] (2564) 
 Leukemia, Lymphocytic, Chronic, B-Cell [MESH:D015451] (2562)
 Precursor Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054198] (1754) 
 Precursor B-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D015452] (354)
 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054218] (510)
 Lymphangiomyoma [MESH:D008203] (163) 
 Lymphangioleiomyomatosis [MESH:D018192] (162)
 Lymphoma [MESH:D008223] (3684) 
 Hodgkin Disease [MESH:D006689] (1082)
 Lymphoma, Non-Hodgkin [MESH:D008228] (3330) 
 Burkitt Lymphoma [MESH:D002051] (691)
 Lymphoma, Follicular [MESH:D008224] (1025)
 Lymphoma, Mantle-Cell [MESH:D020522] (561)
 Lymphoma, B-Cell [MESH:D016393] (2624) 
 Burkitt Lymphoma [MESH:D002051] (691)
 Lymphoma, AIDS-Related [MESH:D016483] (278)
 Lymphoma, Large B-Cell, Diffuse [MESH:D016403] (2012)
 Lymphoma, T-Cell [MESH:D016399] (1382) 
 Lymphoma, T-Cell, Cutaneous [MESH:D016410] (912)
 Paraproteinemias [MESH:D010265] (2791) 
 Multiple Myeloma [MESH:D009101] (2765)
C22. Animal Diseases 
C22. Animal Diseases
 Animal Diseases [MESH:D000820] (3656) 
 Disease Models, Animal [MESH:D004195] (2058)
 Dog Diseases [MESH:D004283] (59)
 Mammary Neoplasms, Animal [MESH:D015674] (2735)
 Cattle Diseases [MESH:D002418] (416) 
 Tuberculosis, Bovine [MESH:D014380] (380)
C23. Pathological Conditions, Signs and Symptoms 
C23. Pathological Conditions, Signs and Symptoms
 Pathological Conditions, Anatomical [MESH:D020763] (6074) 
 Cysts [MESH:D003560] (133)
 Plaque, Atherosclerotic [MESH:D058226] (696)
 Ventricular Remodeling [MESH:D020257] (686)
 Alopecia [MESH:D000505] (1383) 
 Alopecia universalis [MESH:C537055] (23)
 Atrichia with Papular Lesions [MESH:C565924] (23)
 Atrophy [MESH:D001284] (2603) 
 Muscular Atrophy [MESH:D009133] (1234)
 Calculi [MESH:D002137] (756) 
 Gallstones [MESH:D042882] (350)
 Fistula [MESH:D005402] (130) 
 Digestive System Fistula [MESH:D016154] (102) 
 Esophageal Fistula [MESH:D004937] (89) 
 Tracheoesophageal Fistula [MESH:D014138] (88)
 Hernia [MESH:D006547] (2825) 
 Encephalocele [MESH:D004677] (151) 
 Knobloch syndrome [MESH:C537209] (70)
 Hernia, Abdominal [MESH:D046449] (208) 
 Hernia, Ventral [MESH:D006555] (116) 
 Hernia, Umbilical [MESH:D006554] (115)
 Hernia, Diaphragmatic [MESH:D006548] (2647) 
 Congenital diaphragmatic hernia [MESH:C538080] (381)
 Intervertebral Disc Displacement [MESH:D007405] (520) 
 Intervertebral disc disease [MESH:C535531] (514)
 Hypertrophy [MESH:D006984] (4476) 
 Splenomegaly [MESH:D013163] (1258)
 Cardiomegaly [MESH:D006332] (3802) 
 Hypertrophy, Left Ventricular [MESH:D017379] (1430)
 Nails, Malformed [MESH:D009264] (184) 
 Witkop syndrome [MESH:C536736] (38)
 Polyps [MESH:D011127] (1633) 
 Intestinal Polyps [MESH:D007417] (1592) 
 Colonic Polyps [MESH:D003111] (210)
 Pathologic Processes [MESH:D010335] (9863) 
 Emphysema [MESH:D004646] (1096)
 Gliosis [MESH:D005911] (1419)
 Hyperplasia [MESH:D006965] (2463)
 Ischemia [MESH:D007511] (3049)
 Muscle Weakness [MESH:D018908] (478)
 Necrosis [MESH:D009336] (4019)
 Neointima [MESH:D058426] (814)
 Nerve Degeneration [MESH:D009410] (4061)
 Ulcer [MESH:D014456] (392)
 Arrhythmias, Cardiac [MESH:D001145] (4658) 
 Short QT Syndrome 1 [MESH:C566506] (189)
 Bradycardia [MESH:D001919] (1899)
 Arrhythmia, Sinus [MESH:D001146] (324) 
 Sick Sinus Syndrome [MESH:D012804] (293)
 Atrial Fibrillation [MESH:D001281] (1053) 
 Atrial Fibrillation, Familial, 7 [MESH:C567389] (39)
 Heart Block [MESH:D006327] (571) 
 Atrioventricular Block [MESH:D054537] (188)
 Sick Sinus Syndrome [MESH:D012804] (293)
 Long QT Syndrome [MESH:D008133] (691) 
 Long Qt Syndrome 2 [MESH:C563614] (189)
 Tachycardia [MESH:D013610] (3339) 
 Tachycardia, Ventricular [MESH:D017180] (1386) 
 Polymorphic catecholergic ventricular tachycardia [MESH:C536334] (64)
 Torsades de Pointes [MESH:D016171] (880)
 Chromosome Aberrations [MESH:D002869] (2352) 
 Chromosome Breakage [MESH:D019457] (139)
 Micronuclei, Chromosome-Defective [MESH:D048629] (1013)
 Aneuploidy [MESH:D000782] (1237) 
 Monosomy [MESH:D009006] (1121) 
 Chromosome Deletion [MESH:D002872] (1117) 
 Chromosome 3, monosomy 3p25 [MESH:C536807] (76)
 Chromosome 17 deletion [MESH:C538045] (769)
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Death [MESH:D003643] (1328) 
 Death, Sudden [MESH:D003645] (725)
 Fetal Death [MESH:D005313] (464)
 Disease Attributes [MESH:D020969] (3654) 
 Critical Illness [MESH:D016638] (296)
 Disease Progression [MESH:D018450] (2868)
 Recurrence [MESH:D012008] (830)
 Disease Susceptibility [MESH:D004198] (1200) 
 Genetic Predisposition to Disease [MESH:D020022] (966)
 Facies [MESH:D019066] (738) 
 Cardiofaciocutaneous syndrome [MESH:C535579] (407)
 Pitt-Hopkins syndrome [MESH:C537403] (113)
 Fibrosis [MESH:D005355] (3133) 
 Fibrosis Of Extraocular Muscles, Congenital, 2 [MESH:C566587] (18)
 Peritoneal Fibrosis [MESH:D056627] (488)
 Cicatrix [MESH:D002921] (1115) 
 Keloid [MESH:D007627] (1110)
 Growth Disorders [MESH:D006130] (2438) 
 Insulin-Like Growth Factor I Deficiency [MESH:C563867] (346)
 Hemorrhage [MESH:D006470] (4451) 
 Gastrointestinal Hemorrhage [MESH:D006471] (815)
 Shock, Hemorrhagic [MESH:D012771] (2042)
 Intracranial Hemorrhages [MESH:D020300] (3241) 
 Cerebral Hemorrhage [MESH:D002543] (2872)
 Subarachnoid Hemorrhage [MESH:D013345] (1081)
 Hyperammonemia [MESH:D022124] (322) 
 Systemic carnitine deficiency [MESH:C536778] (92)
 Hyperbilirubinemia [MESH:D006932] (1860) 
 Kernicterus [MESH:D007647] (256)
 Hyperbilirubinemia, Neonatal [MESH:D051556] (258) 
 Hyperbilirubinemia, Transient Familial Neonatal [MESH:C562692] (254)
 Inflammation [MESH:D007249] (5241) 
 Neurogenic Inflammation [MESH:D020078] (2246)
 Systemic Inflammatory Response Syndrome [MESH:D018746] (3563) 
 Sepsis [MESH:D018805] (3562) 
 Shock, Septic [MESH:D012772] (1830)
 Bacteremia [MESH:D016470] (1369) 
 Endotoxemia [MESH:D019446] (1289)
 Intraoperative Complications [MESH:D007431] (131) 
 Malignant Hyperthermia [MESH:D008305] (92) 
 Multiple pterygium syndrome [MESH:C537377] (23)
 Menstruation Disturbances [MESH:D008599] (926) 
 Amenorrhea [MESH:D000568] (817)
 Dysmenorrhea [MESH:D004412] (189)
 Metaplasia [MESH:D008679] (1469) 
 Neovascularization, Pathologic [MESH:D009389] (829)
 Neoplastic Processes [MESH:D009385] (5317) 
 Neoplasm Invasiveness [MESH:D009361] (3388)
 Neoplasm Metastasis [MESH:D009362] (4441)
 Neoplasm Recurrence, Local [MESH:D009364] (1949)
 Neoplasm, Residual [MESH:D018365] (478)
 Carcinogenesis [MESH:D063646] (3391) 
 Cell Transformation, Neoplastic [MESH:D002471] (3389)
 Ossification, Heterotopic [MESH:D009999] (187) 
 Osseous Heteroplasia, Progressive [MESH:C562735] (82)
 Ossification of Posterior Longitudinal Ligament [MESH:D017887] (99) 
 Ossification of the posterior longitudinal ligament of the spine [MESH:C537143] (98)
 Postoperative Complications [MESH:D011183] (5311) 
 Malignant Hyperthermia [MESH:D008305] (92) 
 Multiple pterygium syndrome [MESH:C537377] (23)
 Reperfusion Injury [MESH:D015427] (4968) 
 Myocardial Reperfusion Injury [MESH:D015428] (3500)
 Shock [MESH:D012769] (2550) 
 Multiple Organ Failure [MESH:D009102] (1836)
 Shock, Hemorrhagic [MESH:D012771] (2042)
 Systemic Inflammatory Response Syndrome [MESH:D018746] (1832) 
 Shock, Septic [MESH:D012772] (1830)
 Signs and Symptoms [MESH:D012816] (10659) 
 Cyanosis [MESH:D003490] (288)
 Edema [MESH:D004487] (3726)
 Feminization [MESH:D005262] (655)
 Fetal Distress [MESH:D005316] (99)
 Flushing [MESH:D005483] (506)
 Reticulocytosis [MESH:D045262] (514)
 Body Temperature Changes [MESH:D001832] (3130) 
 Fever [MESH:D005334] (2856)
 Hypothermia [MESH:D007035] (2075)
 Body Weight [MESH:D001835] (4972) 
 Body Weight Changes [MESH:D001836] (3206) 
 Weight Gain [MESH:D015430] (2595)
 Weight Loss [MESH:D015431] (2512) 
 Emaciation [MESH:D004614] (2285) 
 Cachexia [MESH:D002100] (2283)
 Overweight [MESH:D050177] (4455) 
 Obesity [MESH:D009765] (4454)
 Failure to Thrive [MESH:D005183] (415) 
 Cardiofaciocutaneous syndrome [MESH:C535579] (407)
 Neurologic Manifestations [MESH:D009461] (8702) 
 Orthostatic Intolerance [MESH:D054971] (64)
 Paresis [MESH:D010291] (419)
 Seizures [MESH:D012640] (4502)
 Dyskinesias [MESH:D020820] (3285) 
 Catalepsy [MESH:D002375] (1429)
 Hyperkinesis [MESH:D006948] (1799)
 Hypokinesia [MESH:D018476] (279)
 Myoclonus [MESH:D009207] (263)
 Tics [MESH:D020323] (62)
 Tremor [MESH:D014202] (840)
 Ataxia [MESH:D001259] (984) 
 Ataxia with vitamin E deficiency [MESH:C535393] (271)
 Dystonia [MESH:D004421] (848) 
 Torticollis [MESH:D014103] (80)
 Neurobehavioral Manifestations [MESH:D019954] (4706) 
 Psychomotor Disorders [MESH:D011596] (576)
 Communication Disorders [MESH:D003147] (2918) 
 Learning Disorders [MESH:D007859] (2727)
 Consciousness Disorders [MESH:D003244] (677) 
 Unconsciousness [MESH:D014474] (657) 
 Coma [MESH:D003128] (492)
 Memory Disorders [MESH:D008569] (3233) 
 Amnesia [MESH:D000647] (1911) 
 Amnesia, Retrograde [MESH:D000648] (53)
 Intellectual Disability [MESH:D008607] (1476) 
 Epileptic encephalopathy, Lennox-Gastaut type [MESH:C535500] (70)
 Zlotogora-Ogur syndrome [MESH:C536726] (25)
 Parastremmatic dwarfism [MESH:C537172] (39)
 Pitt-Hopkins syndrome [MESH:C537403] (113)
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (85)
 Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65)
 Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation [MESH:C567038] (48)
 Neuromuscular Manifestations [MESH:D020879] (2130) 
 Fasciculation [MESH:D005207] (204)
 Muscle Weakness [MESH:D018908] (478)
 Muscular Atrophy [MESH:D009133] (1234)
 Muscle Hypertonia [MESH:D009122] (775) 
 Muscle Rigidity [MESH:D009127] (617)
 Muscle Hypotonia [MESH:D009123] (258) 
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Spasm [MESH:D013035] (418) 
 Trismus [MESH:D014313] (221) 
 Hecht syndrome [MESH:C535857] (10)
 Pain [MESH:D010146] (3869) 
 Headache [MESH:D006261] (1417)
 Neuralgia [MESH:D009437] (2074)
 Paralysis [MESH:D010243] (2298) 
 Hemiplegia [MESH:D006429] (184) 
 Alternating hemiplegia of childhood [MESH:C536589] (70)
 Ophthalmoplegia [MESH:D009886] (1468) 
 Fibrosis Of Extraocular Muscles, Congenital, 2 [MESH:C566587] (18)
 Supranuclear Palsy, Progressive [MESH:D013494] (235)
 Reflex, Abnormal [MESH:D012021] (485) 
 Reflex, Babinski [MESH:D001405] (97)
 Sensation Disorders [MESH:D012678] (5009) 
 Olfaction Disorders [MESH:D000857] (105)
 Taste Disorders [MESH:D013651] (461)
 Hearing Disorders [MESH:D006311] (2101) 
 Hearing Loss [MESH:D034381] (2066) 
 Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)
 Microtia, Hearing Impairment, And Cleft Palate [MESH:C567359] (30)
 Deafness [MESH:D003638] (593)
 Hearing Loss, Sensorineural [MESH:D006319] (1227) 
 Optic atrophy 1 and deafness [MESH:C537124] (30)
 Griscelli syndrome type 1 [MESH:C537301] (42)
 Deafness, Autosomal Recessive 12 [MESH:C563327] (46)
 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness [MESH:C563798] (43)
 Insulin-Like Growth Factor I Deficiency [MESH:C563867] (346)
 Deafness, Autosomal Dominant 44 [MESH:C564399] (18)
 Usher Syndromes [MESH:D052245] (83) 
 Usher syndrome, type 1D [MESH:C536487] (23)
 Somatosensory Disorders [MESH:D020886] (4000) 
 Hyperalgesia [MESH:D006930] (3929)
 Sleep Disorders [MESH:D012893] (1301) 
 Sleep Deprivation [MESH:D012892] (233)
 Pain [MESH:D010146] (4511) 
 Arthralgia [MESH:D018771] (191)
 Headache [MESH:D006261] (1417)
 Neuralgia [MESH:D009437] (2074)
 Chest Pain [MESH:D002637] (2642) 
 Angina Pectoris [MESH:D000787] (2568) 
 Acute Coronary Syndrome [MESH:D054058] (2286)
 Angina, Stable [MESH:D060050] (1702)
 Pelvic Pain [MESH:D017699] (198) 
 Dysmenorrhea [MESH:D004412] (189)
 Signs and Symptoms, Digestive [MESH:D012817] (3095) 
 Anorexia [MESH:D000855] (854)
 Diarrhea [MESH:D003967] (858)
 Hyperphagia [MESH:D006963] (206)
 Vomiting [MESH:D014839] (1354)
 Signs and Symptoms, Respiratory [MESH:D012818] (2724) 
 Anoxia [MESH:D000860] (1698)
 Apnea [MESH:D001049] (415)
 Cough [MESH:D003371] (179)
 Hyperoxia [MESH:D018496] (694)
 Respiratory Sounds [MESH:D012135] (713)
 Hyperventilation [MESH:D006985] (652) 
 Pitt-Hopkins syndrome [MESH:C537403] (113)
 Hypoventilation [MESH:D007040] (359) 
 Perry Syndrome [MESH:C566822] (21)
 Skin Manifestations [MESH:D012877] (1250) 
 Cafe-au-Lait Spots [MESH:D019080] (186)
 Pruritus [MESH:D011537] (648)
 Urological Manifestations [MESH:D020924] (3532) 
 Polyuria [MESH:D011141] (279)
 Hypercalciuria [MESH:D053565] (330) 
 Hypomagnesemia primary [MESH:C537153] (35)
 Hypercalciuria, Absorptive, 2 [MESH:C562790] (15)
 Proteinuria [MESH:D011507] (3293) 
 Hemoglobinuria [MESH:D006456] (75) 
 CD59 Deficiency [MESH:C567355] (57)
C24. Occupational Diseases 
C24. Occupational Diseases
 Z. Exceptions (1530) 
 Not Fully Specified [NFS] (1530)
 Occupational Diseases [MESH:D009784] (3402) 
 Dermatitis, Occupational [MESH:D009783] (311)
 Pneumoconiosis [MESH:D011009] (2670) 
 Asbestosis [MESH:D001195] (935)
 Berylliosis [MESH:D001607] (2005)
 Silicosis [MESH:D012829] (1273)
 Sleep Disorders, Circadian Rhythm [MESH:D020178] (93) 
 Advanced Sleep-Phase Syndrome, Familial [MESH:C565789] (82)
C25. Chemically-Induced Disorders 
C25. Chemically-Induced Disorders
 Drug-Related Side Effects and Adverse Reactions [MESH:D064420] (5839) 
 Drug-Induced Liver Injury [MESH:D056486] (4936)
 Dyskinesia, Drug-Induced [MESH:D004409] (1389)
 Drug Hypersensitivity [MESH:D004342] (4001) 
 Asthma, Aspirin-Induced [MESH:D055963] (1055)
 Drug Eruptions [MESH:D003875] (2697) 
 Serum Sickness [MESH:D012713] (484)
 Stevens-Johnson Syndrome [MESH:D013262] (1163)
 Poisoning [MESH:D011041] (6703) 
 Arsenic Poisoning [MESH:D020261] (2540)
 Drug-Induced Liver Injury [MESH:D056486] (4936)
 Lead Poisoning [MESH:D007855] (515)
 Manganese Poisoning [MESH:D020149] (2214)
 Psychoses, Substance-Induced [MESH:D011605] (2053)
 Water Intoxication [MESH:D014869] (106)
 Neurotoxicity Syndromes [MESH:D020258] (3323) 
 Dyskinesia, Drug-Induced [MESH:D004409] (1389)
 Substance-Related Disorders [MESH:D019966] (6308) 
 Amphetamine-Related Disorders [MESH:D019969] (2858)
 Cocaine-Related Disorders [MESH:D019970] (3054)
 Marijuana Abuse [MESH:D002189] (1132)
 Phencyclidine Abuse [MESH:D010623] (288)
 Psychoses, Substance-Induced [MESH:D011605] (2052)
 Substance Withdrawal Syndrome [MESH:D013375] (2956)
 Tobacco Use Disorder [MESH:D014029] (628)
 Alcohol-Related Disorders [MESH:D019973] (3869) 
 Alcoholic Intoxication [MESH:D000435] (87)
 Alcoholism [MESH:D000437] (1519)
 Alcohol-Induced Disorders [MESH:D020751] (3350) 
 Liver Diseases, Alcoholic [MESH:D008108] (3243) 
 Hepatitis, Alcoholic [MESH:D006519] (1613)
 Liver Cirrhosis, Alcoholic [MESH:D008104] (3066)
 Opioid-Related Disorders [MESH:D009293] (1491) 
 Heroin Dependence [MESH:D006556] (950)
 Morphine Dependence [MESH:D009021] (855)
C26. Wounds and Injuries 
C26. Wounds and Injuries
 Z. Exceptions (2454) 
 Not Fully Specified [NFS] (2454)
 Wounds and Injuries [MESH:D014947] (5171) 
 Burns [MESH:D002056] (2565)
 Vascular System Injuries [MESH:D057772] (2086)
 Craniocerebral Trauma [MESH:D006259] (3523) 
 Brain Injuries [MESH:D001930] (3431)
 Fractures, Bone [MESH:D050723] (597) 
 Fractures, Closed [MESH:D005596] (194)
 Radiation Injuries [MESH:D011832] (2718) 
 Radiation Injuries, Experimental [MESH:D011833] (2662)
 Rupture [MESH:D012421] (646) 
 Aortic Rupture [MESH:D001019] (637)
 Spinal Cord Injuries [MESH:D013119] (2688) 
 Spinal Cord Compression [MESH:D013117] (1800)
 Thoracic Injuries [MESH:D013898] (1831) 
 Lung Injury [MESH:D055370] (1814)
 Trauma, Nervous System [MESH:D020196] (3535) 
 Craniocerebral Trauma [MESH:D006259] (3507) 
 Brain Injuries [MESH:D001930] (3431)
D03. Heterocyclic Compounds 
D03. Heterocyclic Compounds
 Heterocyclic Compounds [MESH:D006571] (56330) 
 Heterocyclic Compounds, 2-Ring [MESH:D006574] (24204) 
 Benzopyrans [MESH:D001578] (5622) 
 Chromones [MESH:D002867] (3329) 
 Flavonoids [MESH:D005419] (3001)
 Pyrans [MESH:D011714] (6850) 
 Benzopyrans [MESH:D001578] (5610) 
 Chromones [MESH:D002867] (3317) 
 Flavonoids [MESH:D005419] (2989)
E. Analytical, Diagnostic and Therapeutic Techniques and Equipment 
E. Analytical, Diagnostic and Therapeutic Techniques and Equipment
 Diagnosis [MESH:D003933] (1924) 
 Diagnostic Techniques and Procedures [MESH:D019937] (1902) 
 Physical Examination [MESH:D010808] (1041) 
 Facies [MESH:D019066] (704) 
 Cardiofaciocutaneous syndrome [MESH:C535579] (407)
 Pitt-Hopkins syndrome [MESH:C537403] (113)
F. Psychiatry and Psychology 
F. Psychiatry and Psychology
 Behavior and Behavior Mechanisms [MESH:D001520] (1594) 
 Behavior [MESH:D001519] (335) 
 Behavioral Symptoms [MESH:D001526] (173) 
 Depression [MESH:D003863] (22) 
 Perry Syndrome [MESH:C566822] (21)
 Neurobehavioral Manifestations [MESH:D019954] (1206) 
 Intellectual Disability [MESH:D008607] (1109) 
 Epileptic encephalopathy, Lennox-Gastaut type [MESH:C535500] (70)
 Zlotogora-Ogur syndrome [MESH:C536726] (25)
 Parastremmatic dwarfism [MESH:C537172] (39)
 Pitt-Hopkins syndrome [MESH:C537403] (113)
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (85)
 Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65)
 Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation [MESH:C567038] (48)
 Mental Disorders [MESH:D001523] (2063) 
 Delirium, Dementia, Amnestic, Cognitive Disorders [MESH:D019965] (487) 
 Dementia [MESH:D003704] (471) 
 Lewy Body Disease [MESH:D020961] (139) 
 Parkinson Disease 4, Autosomal Dominant Lewy Body [MESH:C565324] (136)
 Mental Disorders Diagnosed in Childhood [MESH:D019952] (1245) 
 Intellectual Disability [MESH:D008607] (1109) 
 Epileptic encephalopathy, Lennox-Gastaut type [MESH:C535500] (70)
 Zlotogora-Ogur syndrome [MESH:C536726] (25)
 Parastremmatic dwarfism [MESH:C537172] (39)
 Pitt-Hopkins syndrome [MESH:C537403] (113)
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Scaphocephaly, Maxillary Retrusion, And Mental Retardation [MESH:C566511] (85)
 Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65)
 Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation [MESH:C567038] (48)
 Sexual and Gender Disorders [MESH:D019968] (624) 
 Disorders of Sex Development [MESH:D012734] (609) 
 46, XX Disorders of Sex Development [MESH:D058489] (375) 
 Aromatase deficiency [MESH:C537436] (277)
 46, XY Disorders of Sex Development [MESH:D058490] (388) 
 Persistent Mullerian duct syndrome [MESH:C536665] (47)
 17-Hydroxysteroid Dehydrogenase Deficiency [MESH:C537805] (52)
 Sleep Disorders [MESH:D012893] (148) 
 Dyssomnias [MESH:D020920] (101) 
 Sleep Disorders, Circadian Rhythm [MESH:D020178] (84) 
 Advanced Sleep-Phase Syndrome, Familial [MESH:C565789] (82)
 Parasomnias [MESH:D020447] (57) 
 Sleep Arousal Disorders [MESH:D020921] (46) 
 Somnambulism [MESH:D013009] (44) 
 Epilepsy, Nocturnal Frontal Lobe, Type 4 [MESH:C563679] (43)
G. Phenomena and Processes 
G. Phenomena and Processes
 Genetic Phenomena [MESH:D055614] (1922) 
 Genetic Processes [MESH:D039361] (1336) 
 Mutagenesis [MESH:D016296] (1150) 
 Sequence Deletion [MESH:D017384] (1120) 
 Chromosome Deletion [MESH:D002872] (1117) 
 Chromosome 3, monosomy 3p25 [MESH:C536807] (76)
 Chromosome 17 deletion [MESH:C538045] (769)
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Genetic Structures [MESH:D040342] (1612) 
 Chromosomes [MESH:D002875] (1304) 
 Chromosomes, Mammalian [MESH:D033481] (1282) 
 Chromosomes, Human [MESH:D002877] (1280) 
 Chromosomes, Human, 1-3 [MESH:D002900] (128) 
 Chromosomes, Human, Pair 3 [MESH:D002893] (90) 
 Chromosome 3, monosomy 3p25 [MESH:C536807] (76)
 Chromosomes, Human, 16-18 [MESH:D002902] (799) 
 Chromosomes, Human, Pair 17 [MESH:D002886] (779) 
 Chromosome 17 deletion [MESH:C538045] (769)
 Chromosomes, Human, 21-22 and Y [MESH:D002904] (294) 
 Chromosomes, Human, Pair 21 [MESH:D002891] (58) 
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Genetic Variation [MESH:D014644] (1337) 
 Mutation [MESH:D009154] (1327) 
 Allelic Imbalance [MESH:D022981] (1120) 
 Loss of Heterozygosity [MESH:D019656] (1119) 
 Chromosome Deletion [MESH:D002872] (1117) 
 Chromosome 3, monosomy 3p25 [MESH:C536807] (76)
 Chromosome 17 deletion [MESH:C538045] (769)
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Chromosome Aberrations [MESH:D002869] (1297) 
 Aneuploidy [MESH:D000782] (1220) 
 Monosomy [MESH:D009006] (1121) 
 Chromosome Deletion [MESH:D002872] (1117) 
 Chromosome 3, monosomy 3p25 [MESH:C536807] (76)
 Chromosome 17 deletion [MESH:C538045] (769)
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Sequence Deletion [MESH:D017384] (1120) 
 Chromosome Deletion [MESH:D002872] (1117) 
 Chromosome 3, monosomy 3p25 [MESH:C536807] (76)
 Chromosome 17 deletion [MESH:C538045] (769)
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Ploidies [MESH:D011003] (1227) 
 Aneuploidy [MESH:D000782] (1220) 
 Monosomy [MESH:D009006] (1121) 
 Chromosome Deletion [MESH:D002872] (1117) 
 Chromosome 3, monosomy 3p25 [MESH:C536807] (76)
 Chromosome 17 deletion [MESH:C538045] (769)
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)