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 bortezomib
C400082
 
  
  
  

MeSH Unique Identifier: C400082
Scope Notes: A proteasome inhibitor
Chemical – Gene Interaction

Note 1: Bortezomib results in decreased expression of ABCA2 mRNA

Note 2: ABCB4 gene SNP results in increased susceptibility to bortezomib

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1. Human Genes 
1. Human Genes
 Acyl-CoA thioesterases [HGNC:ACOT] (25) 
 acyl-CoA thioesterase 7 [HGNC:ACOT7] (13)
 ADP-ribosylation factor GTPase activating proteins [HGNC:ARFGAP] (20) 
 ADP-ribosylation factor GTPase activating protein 1 [HGNC:ARFGAP1] (3)
 G protein-coupled receptor kinase interacting ArfGAP 1 [HGNC:GIT1] (2)
 Aldehyde dehydrogenases [HGNC:ALDH] (54) 
 aldehyde dehydrogenase 05 family, member A1 [HGNC:ALDH5A1] (15)
 aldehyde dehydrogenase 06 family, member A1 [HGNC:ALDH6A1] (27)
 Aldo-keto reductases [HGNC:AKR] (282) 
 aldo-keto reductase family 1, member B10 (aldose reductase) [HGNC:AKR1B10] (76)
 aldo-keto reductase family 1, member C1 [HGNC:AKR1C1] (148)
 aldo-keto reductase family 1, member C2 [HGNC:AKR1C2] (134)
 aldo-keto reductase family 1, member C3 [HGNC:AKR1C3] (128)
 Ankyrin repeat domain containing [HGNC:ANKRD] (566) 
 euchromatic histone-lysine N-methyltransferase 2 [HGNC:EHMT2] (14)
 G patch domain and ankyrin repeats 1 [HGNC:GPANK1] (6)
 G protein-coupled receptor kinase interacting ArfGAP 1 [HGNC:GIT1] (2)
 notch 2 [HGNC:NOTCH2] (18)
 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 [HGNC:NFKB1] (254)
 nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha [HGNC:NFKBIA] (290)
 nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon [HGNC:NFKBIE] (19)
 uveal autoantigen with coiled-coil domains and ankyrin repeats [HGNC:UACA] (8)
 Apolipoproteins [HGNC:APOLIPO] (27) 
 apolipoprotein L, 1 [HGNC:APOL1] (16)
 apolipoprotein L, 4 [HGNC:APOL4] (2)
 Armadillo repeat containing [HGNC:ARMC] (176) 
 catenin (cadherin-associated protein), beta 1, 88kDa [HGNC:CTNNB1] (129)
 ATPases [HGNC:ATP] (106) 
 ATPases, AAA [HGNC:AATP] (69) 
 valosin containing protein [HGNC:VCP] (19)
 ATP-binding cassette transporters [HGNC:ABC] (821) 
 ATP-binding cassette transporters, subfamily B [HGNC:ABCB] (452) 
 ATP-binding cassette, sub-family B (MDR/TAP), member 04 [HGNC:ABCB4] (30)
 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) [HGNC:TAP2] (11)
 ATP-binding cassette transporters, subfamily C [HGNC:ABCC] (458) 
 ATP-binding cassette, sub-family C (CFTR/MRP), member 1 [HGNC:ABCC1] (177)
 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 [HGNC:ABCC2] (152)
 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 [HGNC:ABCC3] (89)
 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 [HGNC:ABCC4] (88)
 Basic helix-loop-helix [HGNC:BHLH] (618) 
 hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) [HGNC:HIF1A] (212)
 nuclear receptor coactivator 3 [HGNC:NCOA3] (42)
 transcription factor 04 [HGNC:TCF4] (38)
 v-myc avian myelocytomatosis viral oncogene homolog [HGNC:MYC] (254)
 Basic leucine zipper proteins [HGNC:bZIP] (670) 
 cAMP responsive element modulator [HGNC:CREM] (36)
 CCAAT/enhancer binding protein (C/EBP), alpha [HGNC:CEBPA] (49)
 CCAAT/enhancer binding protein (C/EBP), beta [HGNC:CEBPB] (71)
 jun D proto-oncogene [HGNC:JUND] (61)
 jun proto-oncogene [HGNC:JUN] (290)
 nuclear factor, erythroid 2-like 2 [HGNC:NFE2L2] (213)
 Beta 3-glycosyltransferases [HGNC:B3GT] (48) 
 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 [HGNC:B3GNT2] (14)
 Blood group antigens [HGNC:blood-group] (97) 
 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) [HGNC:GCNT2] (18)
 BPI fold containing [HGNC:BPIF] (41) 
 cholesteryl ester transfer protein, plasma [HGNC:CETP] (17)
 BTB domain containing [HGNC:BTBD] (83) 
 Rho-related BTB domain containing 2 [HGNC:RHOBTB2] (5)
 Carboxylesterases [HGNC:CES] (125) 
 carboxylesterase 1 [HGNC:CES1] (103)
 Cathepsins [HGNC:CTS] (135) 
 cathepsin B [HGNC:CTSB] (48)
 cathepsin D [HGNC:CTSD] (53)
 CD molecules [HGNC:CD] (1459) 
 5'-nucleotidase, ecto (CD73) [HGNC:NT5E] (24)
 angiotensin I converting enzyme [HGNC:ACE] (39)
 CD082 molecule [HGNC:CD82] (12)
 chemokine (C-X-C motif) receptor 04 [HGNC:CXCR4] (92)
 immunoglobulin lambda-like polypeptide 1 [HGNC:IGLL1] (8)
 insulin-like growth factor 1 receptor [HGNC:IGF1R] (72)
 integrin, alpha 6 [HGNC:ITGA6] (39)
 integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) [HGNC:ITGAL] (26)
 integrin, alpha V [HGNC:ITGAV] (33)
 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) [HGNC:ITGB3] (49)
 intercellular adhesion molecule 1 [HGNC:ICAM1] (286)
 interleukin 01 receptor, type I [HGNC:IL1R1] (52)
 interleukin 07 receptor [HGNC:IL7R] (30)
 killer cell lectin-like receptor subfamily K, member 1 [HGNC:KLRK1] (11)
 kinase insert domain receptor (a type III receptor tyrosine kinase) [HGNC:KDR] (51)
 leptin receptor [HGNC:LEPR] (17)
 mucin 1, cell surface associated [HGNC:MUC1] (36)
 plasminogen activator, urokinase receptor [HGNC:PLAUR] (52)
 platelet-derived growth factor receptor, beta polypeptide [HGNC:PDGFRB] (49)
 prion protein [HGNC:PRNP] (49)
 selectin P (granule membrane protein 140kDa, antigen CD62) [HGNC:SELP] (45)
 sialophorin [HGNC:SPN] (6)
 solute carrier family 07 (amino acid transporter light chain, L system), member 05 [HGNC:SLC7A5] (51)
 toll-like receptor 2 [HGNC:TLR2] (55)
 toll-like receptor 4 [HGNC:TLR4] (62)
 tumor necrosis factor (ligand) superfamily, member 10 [HGNC:TNFSF10] (155)
 tumor necrosis factor receptor superfamily, member 10a [HGNC:TNFRSF10A] (70)
 tumor necrosis factor receptor superfamily, member 10b [HGNC:TNFRSF10B] (124)
 v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 [HGNC:ERBB2] (109)
 Chemokine ligands [HGNC:CCL] (472) 
 chemokine (C-C motif) ligand 02 [HGNC:CCL2] (337)
 chemokine (C-C motif) ligand 03 [HGNC:CCL3] (102)
 chemokine (C-C motif) ligand 05 [HGNC:CCL5] (141)
 chemokine (C-C motif) ligand 08 [HGNC:CCL8] (9)
 Chemokine receptors [HGNC:CR] (207) 
 Chemokine (C-X-C motif) receptors [HGNC:CXCR] (135) 
 chemokine (C-X-C motif) receptor 04 [HGNC:CXCR4] (92)
 Collectins [HGNC:COLEC] (37) 
 mannose-binding lectin (protein C) 2, soluble [HGNC:MBL2] (14)
 C-type lectin domain containing [HGNC:CLEC] (81) 
 C-type lectin domain family 07, member A [HGNC:CLEC7A] (13)
 Cyclin-dependent kinases [HGNC:CDK] (338) 
 cyclin-dependent kinase 01 [HGNC:CDK1] (151)
 cyclin-dependent kinase 02 [HGNC:CDK2] (177)
 Cytochrome b [HGNC:CYB] (73) 
 cytochrome b-245, alpha polypeptide [HGNC:CYBA] (40)
 Cytochrome P450s [HGNC:CYP] (1673) 
 cytochrome P450, family 01, subfamily A, polypeptide 02 [HGNC:CYP1A2] (466)
 cytochrome P450, family 02, subfamily C, polypeptide 09 [HGNC:CYP2C9] (220)
 cytochrome P450, family 02, subfamily C, polypeptide 19 [HGNC:CYP2C19] (172)
 cytochrome P450, family 02, subfamily D, polypeptide 06 [HGNC:CYP2D6] (200)
 cytochrome P450, family 03, subfamily A, polypeptide 04 [HGNC:CYP3A4] (612)
 cytochrome P450, family 04, subfamily F, polypeptide 12 [HGNC:CYP4F12] (9)
 cytochrome P450, family 19, subfamily A, polypeptide 01 [HGNC:CYP19A1] (210)
 cytochrome P450, family 24, subfamily A, polypeptide 01 [HGNC:CYP24A1] (58)
 DEAD-boxes [HGNC:DDX] (48) 
 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 [HGNC:DDX11] (9)
 Dyneins, cytoplasmic [HGNC:DYN] (49) 
 dynein, cytoplasmic 1, intermediate chain 1 [HGNC:DYNC1I1] (3)
 EF-hand domain containing [HGNC:EFHAND] (226) 
 protein phosphatase 3, regulatory subunit B, alpha [HGNC:PPP3R1] (10)
 RAS guanyl releasing protein 1 (calcium and DAG-regulated) [HGNC:RASGRP1] (27)
 Endogenous Ligands [HGNC:ENDOLIG] (1191) 
 chemokine (C-C motif) ligand 02 [HGNC:CCL2] (337)
 chemokine (C-C motif) ligand 03 [HGNC:CCL3] (102)
 chemokine (C-C motif) ligand 05 [HGNC:CCL5] (141)
 chemokine (C-C motif) ligand 08 [HGNC:CCL8] (9)
 chemokine (C-X-C motif) ligand 01 (melanoma growth stimulating activity, alpha) [HGNC:CXCL1] (82)
 endothelin 1 [HGNC:EDN1] (119)
 interleukin 08 [HGNC:IL8] (649)
 parathyroid hormone-like hormone [HGNC:PTHLH] (30)
 EPH receptors [HGNC:EPH] (55) 
 EPH receptor A1 [HGNC:EPHA1] (21)
 EPH receptor B2 [HGNC:EPHB2] (12)
 Fanconi anemia, complementation groups [HGNC:FANC] (81) 
 Fanconi anemia, complementation group D2 [HGNC:FANCD2] (20)
 Fatty acid desaturases [HGNC:FADS] (108) 
 fatty acid desaturase 2 [HGNC:FADS2] (28)
 stearoyl-CoA desaturase (delta-9-desaturase) [HGNC:SCD] (78)
 Fibrinogen C domain containing [HGNC:FIBC] (113) 
 angiopoietin-like 4 [HGNC:ANGPTL4] (40)
 Fibronectin type III domain containing [HGNC:FN3] (399) 
 c-mer proto-oncogene tyrosine kinase [HGNC:MERTK] (19)
 EPH receptor A1 [HGNC:EPHA1] (21)
 EPH receptor B2 [HGNC:EPHB2] (12)
 growth hormone receptor [HGNC:GHR] (15)
 insulin-like growth factor 1 receptor [HGNC:IGF1R] (72)
 interferon gamma receptor 2 (interferon gamma transducer 1) [HGNC:IFNGR2] (24)
 interleukin 07 receptor [HGNC:IL7R] (30)
 Fibulins [HGNC:FBLN] (53) 
 fibulin 5 [HGNC:FBLN5] (7)
 F-boxes [HGNC:FBX] (66) 
 F-boxes and leucine-rich repeats [HGNC:FBXL] (58) 
 S-phase kinase-associated protein 2, E3 ubiquitin protein ligase [HGNC:SKP2] (54)
 F-boxes and WD-40 domains [HGNC:FBXW] (15) 
 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase [HGNC:FBXW7] (15)
 Forkhead boxes [HGNC:FOX] (139) 
 forkhead box A1 [HGNC:FOXA1] (30)
 GATA zinc finger domain containing [HGNC:GATAD] (101) 
 trichorhinophalangeal syndrome I [HGNC:TRPS1] (5)
 General transcription factors [HGNC:GTF] (40) 
 excision repair cross-complementing rodent repair deficiency, complementation group 3 [HGNC:ERCC3] (14)
 General transcription factor IIH complex subunits [HGNC:TFIIH] (46) 
 excision repair cross-complementing rodent repair deficiency, complementation group 3 [HGNC:ERCC3] (14)
 Glutathione S-transferases [HGNC:GST] (460) 
 Glutathione S-transferases, soluble [HGNC:SGST] (447) 
 glutathione S-transferase mu 4 [HGNC:GSTM4] (21)
 glutathione S-transferase pi 1 [HGNC:GSTP1] (218)
 G patch domain containing [HGNC:GPATCH] (46) 
 G patch domain and ankyrin repeats 1 [HGNC:GPANK1] (6)
 Heat shock proteins [HGNC:HSP] (390) 
 Heat shock proteins, HSP70 [HGNC:HSP70] (294) 
 heat shock 105kDa/110kDa protein 01 [HGNC:HSPH1] (45)
 heat shock 70kDa protein 01A [HGNC:HSPA1A] (112)
 heat shock 70kDa protein 01B [HGNC:HSPA1B] (65)
 heat shock 70kDa protein 05 (glucose-regulated protein, 78kDa) [HGNC:HSPA5] (148)
 Heat shock proteins, HSPB (small) [HGNC:HSPB] (127) 
 heat shock 27kDa protein 01 [HGNC:HSPB1] (84)
 Heat shock proteins, HSPC (HSP90) [HGNC:HSP90] (119) 
 heat shock protein 90kDa alpha (cytosolic), class A member 1 [HGNC:HSP90AA1] (60)
 Histocompatibility complex [HGNC:HLA] (108) 
 major histocompatibility complex, class II, DP beta 1 [HGNC:HLA-DPB1] (12)
 major histocompatibility complex, class II, DR alpha [HGNC:HLA-DRA] (23)
 Histones [HGNC:HIST] (173) 
 Histones, Replication-independent [HGNC:RIH] (148) 
 H2A histone family, member X [HGNC:H2AFX] (129)
 Homeoboxes [HGNC:homeobox] (219) 
 Homeoboxes, ANTP class [HGNC:HOXL] (152) 
 HOXL subclass homeoboxes [HGNC:HOXL] (95) 
 homeobox A11 [HGNC:HOXA11] (6)
 Homeoboxes, POU class [HGNC:POU] (49) 
 POU class 2 homeobox 2 [HGNC:POU2F2] (9)
 5-HT (serotonin) receptors [HGNC:HTR] (146) 
 5-HT (serotonin) receptors, G protein-coupled only [HGNC:HTRGP] (127) 
 5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled [HGNC:HTR2B] (10)
 IKAROS zinc fingers [HGNC:IKZF] (19) 
 IKAROS family zinc finger 1 (Ikaros) [HGNC:IKZF1] (11)
 Immunoglobulin superfamily domain containing [HGNC:IGSF] (761) 
 V-set domain containing [HGNC:VSET] (188) 
 kinase insert domain receptor (a type III receptor tyrosine kinase) [HGNC:KDR] (51)
 C1-set domain containing [HGNC:C1SET] (121) 
 immunoglobulin lambda-like polypeptide 1 [HGNC:IGLL1] (8)
 major histocompatibility complex, class II, DP beta 1 [HGNC:HLA-DPB1] (12)
 major histocompatibility complex, class II, DR alpha [HGNC:HLA-DRA] (23)
 I-set domain containing [HGNC:ISET] (447) 
 c-mer proto-oncogene tyrosine kinase [HGNC:MERTK] (19)
 interleukin 01 receptor, type I [HGNC:IL1R1] (52)
 kinase insert domain receptor (a type III receptor tyrosine kinase) [HGNC:KDR] (51)
 palladin, cytoskeletal associated protein [HGNC:PALLD] (22)
 platelet-derived growth factor receptor, beta polypeptide [HGNC:PDGFRB] (49)
 trio Rho guanine nucleotide exchange factor [HGNC:TRIO] (16)
 Immunoglobulin-like domain containing [HGNC:IGD] (645) 
 c-mer proto-oncogene tyrosine kinase [HGNC:MERTK] (19)
 intercellular adhesion molecule 1 [HGNC:ICAM1] (286)
 interleukin 01 receptor, type I [HGNC:IL1R1] (52)
 kinase insert domain receptor (a type III receptor tyrosine kinase) [HGNC:KDR] (51)
 leptin receptor [HGNC:LEPR] (17)
 platelet-derived growth factor receptor, beta polypeptide [HGNC:PDGFRB] (49)
 Integrins [HGNC:ITG] (284) 
 integrin, alpha 6 [HGNC:ITGA6] (39)
 integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) [HGNC:ITGAL] (26)
 integrin, alpha V [HGNC:ITGAV] (33)
 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) [HGNC:ITGB3] (49)
 integrin, beta 6 [HGNC:ITGB6] (28)
 Interferons and interferon receptors [HGNC:IFN] (684) 
 interferon gamma receptor 2 (interferon gamma transducer 1) [HGNC:IFNGR2] (24)
 interferon, alpha 2 [HGNC:IFNA2] (25)
 interleukin 06 (interferon, beta 2) [HGNC:IL6] (511)
 Interleukins and interleukin receptors [HGNC:IL] (1294) 
 interleukin 01 receptor antagonist [HGNC:IL1RN] (58)
 interleukin 01 receptor, type I [HGNC:IL1R1] (52)
 interleukin 02 [HGNC:IL2] (144)
 interleukin 06 (interferon, beta 2) [HGNC:IL6] (511)
 interleukin 07 receptor [HGNC:IL7R] (30)
 interleukin 08 [HGNC:IL8] (649)
 interleukin 10 [HGNC:IL10] (187)
 interleukin 15 [HGNC:IL15] (24)
 interleukin 17 receptor D [HGNC:IL17RD] (4)
 interleukin 18 (interferon-gamma-inducing factor) [HGNC:IL18] (73)
 interleukin 23, alpha subunit p19 [HGNC:IL23A] (27)
 interleukin 3 (colony-stimulating factor, multiple) [HGNC:IL3] (21)
 Intermediate filaments [HGNC:IF] (273) 
 Type V. Lamins [HGNC:] (81) 
 lamin A/C [HGNC:LMNA] (35)
 K-acetyltransferases [HGNC:KAT] (176) 
 nuclear receptor coactivator 3 [HGNC:NCOA3] (42)
 K-demethylases [HGNC:KDM] (47) 
 lysine (K)-specific demethylase 4B [HGNC:KDM4B] (21)
 lysine (K)-specific demethylase 5C [HGNC:KDM5C] (2)
 K-methyltransferases [HGNC:KMT] (101) 
 euchromatic histone-lysine N-methyltransferase 2 [HGNC:EHMT2] (14)
 PR domain containing 02, with ZNF domain [HGNC:PRDM2] (21)
 Kruppel-like transcription factors [HGNC:KLF] (106) 
 Kruppel-like factor 06 [HGNC:KLF6] (56)
 Lectins, galactoside-binding [HGNC:LGALS] (92) 
 lectin, galactoside-binding, soluble, 2 [HGNC:LGALS2] (15)
 Mitochondrial respiratory chain complex [HGNC:mitocomplex] (132) 
 Mitochondrial complex II: succinate dehydrogenase subunits [HGNC:comII] (30) 
 succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa [HGNC:SDHC] (13)
 Mitochondrial complex III: ubiquinol-cytochrome c reductase complex subunits [HGNC:comIII] (39) 
 ubiquinol-cytochrome c reductase binding protein [HGNC:UQCRB] (16)
 Mitochondrial ribosomal proteins [HGNC:MRP] (52) 
 Mitochondrial ribosomal proteins, large subunits [HGNC:MRPL] (52) 
 death associated protein 3 [HGNC:DAP3] (12)
 mitochondrial ribosomal protein L19 [HGNC:MRPL19] (5)
 Mitogen-activated protein kinase cascade [HGNC:MAP#K] (854) 
 Mitogen-activated protein kinases [HGNC:MAPK] (797) 
 mitogen-activated protein kinase 01 [HGNC:MAPK1] (651)
 mitogen-activated protein kinase 03 [HGNC:MAPK3] (644)
 mitogen-activated protein kinase 08 [HGNC:MAPK8] (234)
 mitogen-activated protein kinase 09 [HGNC:MAPK9] (121)
 mitogen-activated protein kinase 10 [HGNC:MAPK10] (25)
 mitogen-activated protein kinase 14 [HGNC:MAPK14] (162)
 Mitogen-activated protein kinase kinases [HGNC:MAP2K] (157) 
 mitogen-activated protein kinase kinase 1 [HGNC:MAP2K1] (106)
 mitogen-activated protein kinase kinase 2 [HGNC:MAP2K2] (71)
 mitogen-activated protein kinase kinase 6 [HGNC:MAP2K6] (48)
 Mucins [HGNC:MUC] (48) 
 mucin 01, cell surface associated [HGNC:MUC1] (36)
 Myosins [HGNC:myosin] (111) 
 Myosins, class V [HGNC:MYOV] (27) 
 myosin VA (heavy chain 12, myoxin) [HGNC:MYO5A] (17)
 Nuclear hormone receptors [HGNC:NR] (1322) 
 estrogen receptor 1 [HGNC:ESR1] (506)
 estrogen-related receptor alpha [HGNC:ESRRA] (30)
 peroxisome proliferator-activated receptor delta [HGNC:PPARD] (67)
 Nucleotide-binding domain and leucine rich repeat containing [HGNC:NLR] (33) 
 NLR family, pyrin domain containing 12 [HGNC:NLRP12] (3)
 Parkinson disease [HGNC:PARK] (136) 
 HtrA serine peptidase 2 [HGNC:HTRA2] (29)
 PTEN induced putative kinase 1 [HGNC:PINK1] (13)
 synuclein, alpha (non A4 component of amyloid precursor) [HGNC:SNCA] (71)
 PHD-type zinc fingers [HGNC:PHF] (103) 
 D4, zinc and double PHD fingers, family 3 [HGNC:DPF3] (7)
 lysine (K)-specific demethylase 5C [HGNC:KDM5C] (2)
 transcription factor 19 [HGNC:TCF19] (22)
 Pleckstrin homology (PH) domain containing [HGNC:PLEKH] (227) 
 dynamin 2 [HGNC:DNM2] (5)
 insulin receptor substrate 1 [HGNC:IRS1] (47)
 protein kinase D3 [HGNC:PRKD3] (8)
 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 [HGNC:RAPH1] (14)
 spectrin, beta, non-erythrocytic 1 [HGNC:SPTBN1] (28)
 Poly (ADP-ribose) polymerases [HGNC:PARP] (56) 
 poly (ADP-ribose) polymerase 2 [HGNC:PARP2] (17)
 Protease activated receptors [HGNC:F2R] (81) 
 coagulation factor II (thrombin) receptor-like 1 [HGNC:F2RL1] (38)
 Proteasome (prosome, macropain) subunits [HGNC:PSM] (98) 
 proteasome (prosome, macropain) 26S subunit, non-ATPase, 13 [HGNC:PSMD13] (10)
 proteasome (prosome, macropain) subunit, beta type, 05 [HGNC:PSMB5] (8)
 Protein phosphatase, catalytic and regulatory subunits [HGNC:PPP-PPM-CTD] (225) 
 Protein phosphatase, catalytic subunits [HGNC:PPP] (49) 
 protein phosphatase 3, catalytic subunit, alpha isozyme [HGNC:PPP3CA] (24)
 Protein phosphatase 2, regulatory subunits [HGNC:PPP2R] (69) 
 protein phosphatase 2, regulatory subunit B, alpha [HGNC:PPP2R2A] (14)
 Protein phosphatase 3, regulatory subunits [HGNC:PPP3R] (10) 
 protein phosphatase 3, regulatory subunit B, alpha [HGNC:PPP3R1] (10)
 Protein phosphatase 4, regulatory subunits [HGNC:PPP4R] (6) 
 protein phosphatase 4, regulatory subunit 1 [HGNC:PPP4R1] (6)
 Protein tyrosine phosphatases, including dual specificity phosphatases [HGNC:PTP] (254) 
 Protein tyrosine phosphatases, Class I Cys-based [HGNC:PTPN] (252) 
 Class I Cys-based PTPs : Non-receptor [HGNC:PTPN] (75) 
 protein tyrosine phosphatase, non-receptor type 06 [HGNC:PTPN6] (20)
 protein tyrosine phosphatase, non-receptor type 11 [HGNC:PTPN11] (14)
 Class I Cys-based PTPs : Transmembrane receptor-like [HGNC:PTPR] (69) 
 protein tyrosine phosphatase, receptor type, N polypeptide 2 [HGNC:PTPRN2] (12)
 Class I Cys-based PTPs : Atypical dual specificity phosphatases [HGNC:DUSPA] (26) 
 dual specificity phosphatase 13 [HGNC:DUSP13] (8)
 dual specificity phosphatase 23 [HGNC:DUSP23] (10)
 Proteoglycans [HGNC:proteoglycan] (70) 
 Proteoglycans, extracellular matrix: other [HGNC:ECMPG] (24) 
 structural maintenance of chromosomes 3 [HGNC:SMC3] (17)
 RAB, member RAS oncogene [HGNC:RAB] (69) 
 RAB05A, member RAS oncogene family [HGNC:RAB5A] (12)
 Rho guanine nucleotide exchange factors [HGNC:ARHGEF] (105) 
 trio Rho guanine nucleotide exchange factor [HGNC:TRIO] (16)
 RNA binding motif containing [HGNC:RRM] (251) 
 peroxisome proliferator-activated receptor gamma, coactivator 1 alpha [HGNC:PPARGC1A] (87)
 polypyrimidine tract binding protein 1 [HGNC:PTBP1] (13)
 serine/arginine-rich splicing factor 01 [HGNC:SRSF1] (25)
 transformer 2 alpha homolog (Drosophila) [HGNC:TRA2A] (22)
 S ribosomal proteins [HGNC:RPS] (104) 
 ribosomal protein S19 [HGNC:RPS19] (16)
 RING-type zinc fingers [HGNC:RNF] (151) 
 checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase [HGNC:CHFR] (11)
 Serine/arginine-rich splicing factors [HGNC:SRSF] (62) 
 serine/arginine-rich splicing factor 01 [HGNC:SRSF1] (25)
 Serine peptidases [HGNC:PRSS] (133) 
 Serine peptidases, serine peptidases [HGNC:TMPRSS] (86) 
 HtrA serine peptidase 2 [HGNC:HTRA2] (29)
 protease, serine, 02 (trypsin 2) [HGNC:PRSS2] (11)
 Serine (or cysteine) peptidase inhibitors [HGNC:SERPIN] (252) 
 serpin peptidase inhibitor, clade B (ovalbumin), member 02 [HGNC:SERPINB2] (63)
 SH2 domain containing [HGNC:SH2D] (431) 
 protein tyrosine phosphatase, non-receptor type 06 [HGNC:PTPN6] (20)
 protein tyrosine phosphatase, non-receptor type 11 [HGNC:PTPN11] (14)
 SHC (Src homology 2 domain containing) transforming protein 1 [HGNC:SHC1] (29)
 signal transducer and activator of transcription 3 (acute-phase response factor) [HGNC:STAT3] (145)
 signal transducer and activator of transcription 6, interleukin-4 induced [HGNC:STAT6] (32)
 suppressor of cytokine signaling 3 [HGNC:SOCS3] (46)
 v-crk avian sarcoma virus CT10 oncogene homolog-like [HGNC:CRKL] (18)
 v-yes-1 Yamaguchi sarcoma viral related oncogene homolog [HGNC:LYN] (39)
 Solute carriers [HGNC:SLC] (716) 
 solute carrier family 02 (facilitated glucose transporter), member 03 [HGNC:SLC2A3] (76)
 solute carrier family 07 (amino acid transporter light chain, L system), member 05 [HGNC:SLC7A5] (51)
 solute carrier family 22 (organic anion transporter), member 08 [HGNC:SLC22A8] (42)
 solute carrier family 31 (copper transporter), member 1 [HGNC:SLC31A1] (35)
 SRY (sex determining region Y)-boxes [HGNC:SOX] (95) 
 SRY (sex determining region Y)-box 08 [HGNC:SOX8] (7)
 Sterile alpha motif (SAM) containing [HGNC:SAMD] (92) 
 EPH receptor A1 [HGNC:EPHA1] (21)
 EPH receptor B2 [HGNC:EPHB2] (12)
 stromal interaction molecule 2 [HGNC:STIM2] (6)
 Structural maintenance of chromosomes proteins [HGNC:SMC] (44) 
 structural maintenance of chromosomes 1A [HGNC:SMC1A] (20)
 structural maintenance of chromosomes 3 [HGNC:SMC3] (17)
 Sulfotransferases, cytosolic [HGNC:SULT] (167) 
 sulfotransferase family 4A, member 1 [HGNC:SULT4A1] (9)
 Suppressors of cytokine signaling [HGNC:SOCS] (82) 
 suppressor of cytokine signaling 3 [HGNC:SOCS3] (46)
 Tetraspanins [HGNC:TSPAN] (43) 
 CD082 molecule [HGNC:CD82] (12)
 Tetratricopeptide repeat domain containing [HGNC:TTC] (153) 
 FK506 binding protein 05 [HGNC:FKBP5] (46)
 tetratricopeptide repeat domain 39A [HGNC:TTC39A] (6)
 Tropomyosins [HGNC:TPM] (66) 
 tropomyosin 1 (alpha) [HGNC:TPM1] (32)
 Tubulins [HGNC:TUB] (87) 
 tubulin, beta 2A class IIa [HGNC:TUBB2A] (21)
 Tubulin tyrosine ligase-like family [HGNC:TTLL] (10) 
 tubulin tyrosine ligase-like family, member 12 [HGNC:TTLL12] (10)
 Tudor domain containing [HGNC:TDRD] (64) 
 lysine (K)-specific demethylase 4B [HGNC:KDM4B] (21)
 serine/threonine kinase 31 [HGNC:STK31] (2)
 Tumor necrosis factor (ligand) superfamily [HGNC:TNFSF] (898) 
 tumor necrosis factor [HGNC:TNF] (795)
 tumor necrosis factor (ligand) superfamily, member 10 [HGNC:TNFSF10] (155)
 Tumor necrosis factor receptor superfamily [HGNC:TNFRSF] (295) 
 tumor necrosis factor receptor superfamily, member 10a [HGNC:TNFRSF10A] (70)
 tumor necrosis factor receptor superfamily, member 10b [HGNC:TNFRSF10B] (124)
 Voltage-dependent anion channels [HGNC:VDAC] (33) 
 voltage-dependent anion channel 1 [HGNC:VDAC1] (19)
 WD repeat domain containing [HGNC:WDR] (199) 
 dynein, cytoplasmic 1, intermediate chain 1 [HGNC:DYNC1I1] (3)
 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase [HGNC:FBXW7] (15)
 phospholipase A2-activating protein [HGNC:PLAA] (10)
 protein phosphatase 2, regulatory subunit B, alpha [HGNC:PPP2R2A] (14)
 transducin (beta)-like 1X-linked [HGNC:TBL1X] (19)
 ZINC FINGERS [HGNC:ZNF] (383) 
 Zinc fingers, C2H2-type [HGNC:ZNF] (349) 
 early growth response 1 [HGNC:EGR1] (140)
 IKAROS family zinc finger 1 (Ikaros) [HGNC:IKZF1] (11)
 Kruppel-like factor 06 [HGNC:KLF6] (56)
 MYC-associated zinc finger protein (purine-binding transcription factor) [HGNC:MAZ] (12)
 trichorhinophalangeal syndrome I [HGNC:TRPS1] (5)
 Wilms tumor 1 [HGNC:WT1] (27)
 zinc finger protein 023 [HGNC:ZNF23] (6)
 Other zinc fingers [HGNC:] (148) 
 Zinc fingers, CCHC-type [HGNC:ZCCHC ] (40) 
 zinc finger, CCHC domain containing 2 [HGNC:ZCCHC2] (25)
 Zinc fingers, MYM-type [HGNC:ZMYM ] (64) 
 DEAF1 transcription factor [HGNC:DEAF1] (12)
2. Interaction: Human Genes and Chemicals 
2. Interaction: Human Genes and Chemicals
 Affects (3990) 
 binding (2423)
 cotreatment (1499)
 expression (494)
 localization (731)
 metabolic processing (485)
 reaction (624)
 response to substance (623)
 Decreases (5154) 
 activity (2549)
 cleavage (22)
 degradation (120)
 expression (2187)
 localization (74)
 phosphorylation (590)
 reaction (3393)
 response to substance (713)
 ubiquitination (21)
 Increases (5571) 
 abundance (630)
 acetylation (96)
 activity (2865)
 cleavage (666)
 degradation (347)
 expression (3238)
 localization (244)
 phosphorylation (1060)
 reaction (1574)
 response to substance (641)
 secretion (901)
 stability (138)
 ubiquitination (61)
 uptake (378)
4. Semantic Terms 
4. Semantic Terms
 Entity [STY:T071] (48056) 
 Physical Object [STY:T072] (47583) 
 Substance [STY:T167] (46174) 
 Chemical [STY:T103] (46110) 
 Chemical Viewed Functionally [STY:T120] (28747) 
 Pharmacologic Substance [STY:T121] (11019)
 Chemical Viewed Structurally [STY:T104] (44741) 
 Organic Chemical [STY:T109] (44144)
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) 
 Trichorhinophalangeal Syndrome, Type III [MESH:C566033] (24)
 Upper Extremity [MESH:D034941] (441) 
 Hand [MESH:D006225] (428) 
 Fingers [MESH:D005385] (422) 
 Trichorhinophalangeal Syndrome, Type III [MESH:C566033] (24)
 Head [MESH:D006257] (523) 
 Ear [MESH:D004423] (236) 
 Meier-Gorlin syndrome [MESH:C538012] (133)
 Face [MESH:D005145] (387) 
 Nose [MESH:D009666] (71) 
 Trichorhinophalangeal Syndrome, Type III [MESH:C566033] (24)
 Musculoskeletal System [MESH:D009141] (1255) 
 Skeleton [MESH:D012863] (1177) 
 Bone and Bones [MESH:D001842] (1112) 
 Bones of Lower Extremity [MESH:D050281] (278) 
 Leg Bones [MESH:D007867] (228) 
 Patella [MESH:D010329] (168) 
 Rapadilino syndrome [MESH:C535288] (30)
 Meier-Gorlin syndrome [MESH:C538012] (133)
 Bones of Upper Extremity [MESH:D001133] (240) 
 Arm Bones [MESH:D050280] (183) 
 Radius [MESH:D011884] (126) 
 Rapadilino syndrome [MESH:C535288] (30)
 Craniosynostosis radial aplasia syndrome [MESH:C536788] (30)
 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia [MESH:C565328] (23)
 Ulna [MESH:D014457] (96) 
 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia [MESH:C565328] (23)
 Epiphyses [MESH:D004838] (98) 
 Wolcott-Rallison syndrome [MESH:C536739] (92)
 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)
 Digestive System [MESH:D004064] (421) 
 Gastrointestinal Tract [MESH:D041981] (364) 
 Intestines [MESH:D007422] (271) 
 Intestine, Large [MESH:D007420] (247) 
 Anal Canal [MESH:D001003] (217) 
 Rapadilino syndrome [MESH:C535288] (30)
 Lower Gastrointestinal Tract [MESH:D041741] (254) 
 Intestine, Large [MESH:D007420] (247) 
 Anal Canal [MESH:D001003] (217) 
 Rapadilino syndrome [MESH:C535288] (30)
 Liver [MESH:D008099] (24) 
 Meckel Syndrome, Type 4 [MESH:C567003] (20)
 Respiratory System [MESH:D012137] (321) 
 Nose [MESH:D009666] (91) 
 Trichorhinophalangeal Syndrome, Type III [MESH:C566033] (24)
 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) 
 Heart [MESH:D006321] (904) 
 Heart Valves [MESH:D006351] (666) 
 Aortic Valve [MESH:D001021] (659) 
 Aortic Valve, Calcification of [MESH:C562942] (655)
 Nervous System [MESH:D009420] (587) 
 Central Nervous System [MESH:D002490] (371) 
 Brain [MESH:D001921] (349) 
 Orofacial Cleft 1 [MESH:C566121] (81)
 Sense Organs [MESH:D012679] (1060) 
 Ear [MESH:D004423] (323) 
 Meier-Gorlin syndrome [MESH:C538012] (133)
 Nose [MESH:D009666] (74) 
 Trichorhinophalangeal Syndrome, Type III [MESH:C566033] (24)
 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, 16-18 [MESH:D002902] (799) 
 Chromosomes, Human, Pair 17 [MESH:D002886] (779) 
 Chromosome 17 deletion [MESH:C538045] (769)
 Stomatognathic System [MESH:D013284] (673) 
 Jaw [MESH:D007568] (528) 
 Mandible [MESH:D008334] (511) 
 Mandibuloacral dysplasia with type A lipodystrophy [MESH:C535705] (490)
C01. Bacterial Infections and Mycoses 
C01. Bacterial Infections and Mycoses
 Bacterial Infections [MESH:D001424] (3716) 
 Gram-Negative Bacterial Infections [MESH:D016905] (3085) 
 Helicobacter Infections [MESH:D016481] (579)
 Chlamydiaceae Infections [MESH:D002694] (1699) 
 Chlamydia Infections [MESH:D002690] (1696)
 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) 
 Listeriosis [MESH:D008088] (1622)
 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, Pulmonary [MESH:D014397] (678)
 Sexually Transmitted Diseases, Bacterial [MESH:D015231] (1711) 
 Chlamydia Infections [MESH:D002690] (1693)
 Skin Diseases, Bacterial [MESH:D017192] (157) 
 Hidradenitis Suppurativa [MESH:D017497] (120) 
 Hidradenitis suppurativa, familial [MESH:C538118] (67)
 Infection [MESH:D007239] (4109) 
 Arthritis, Infectious [MESH:D001170] (1702)
 Respiratory Tract Infections [MESH:D012141] (199)
 Intraabdominal Infections [MESH:D059413] (958) 
 Appendicitis [MESH:D001064] (774)
 Peritonitis [MESH:D010538] (800)
 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)
 Sexually Transmitted Diseases [MESH:D012749] (1712) 
 Sexually Transmitted Diseases, Bacterial [MESH:D015231] (1711) 
 Chlamydia Infections [MESH:D002690] (1693)
 Skin Diseases, Infectious [MESH:D012874] (415) 
 Dermatomycoses [MESH:D003881] (267) 
 Candidiasis, Chronic Mucocutaneous [MESH:D002178] (224) 
 Candidiasis familial chronic mucocutaneous, autosomal recessive [MESH:C537979] (36)
 Skin Diseases, Bacterial [MESH:D017192] (156) 
 Hidradenitis Suppurativa [MESH:D017497] (120) 
 Hidradenitis suppurativa, familial [MESH:C538118] (67)
 Suppuration [MESH:D013492] (219) 
 Hidradenitis Suppurativa [MESH:D017497] (120) 
 Hidradenitis suppurativa, familial [MESH:C538118] (67)
 Toxemia [MESH:D014115] (1290) 
 Endotoxemia [MESH:D019446] (1289)
 Mycoses [MESH:D009181] (385) 
 Candidiasis [MESH:D002177] (307) 
 Candidiasis, Chronic Mucocutaneous [MESH:D002178] (224) 
 Candidiasis familial chronic mucocutaneous, autosomal recessive [MESH:C537979] (36)
 Dermatomycoses [MESH:D003881] (267) 
 Candidiasis, Chronic Mucocutaneous [MESH:D002178] (224) 
 Candidiasis familial chronic mucocutaneous, autosomal recessive [MESH:C537979] (36)
C02. Virus Diseases 
C02. Virus Diseases
 Virus Diseases [MESH:D014777] (4544) 
 Pneumonia, Viral [MESH:D011024] (125)
 Viremia [MESH:D014766] (41)
 Central Nervous System Viral Diseases [MESH:D020805] (1416) 
 Encephalitis [MESH:D004660] (226) 
 Encephalitis, Viral [MESH:D018792] (183) 
 Encephalitis, Herpes Simplex [MESH:D020803] (72)
 Meningitis, Viral [MESH:D008587] (1308) 
 Meningitis, Aseptic [MESH:D008582] (1305)
 DNA Virus Infections [MESH:D004266] (2474) 
 Hepadnaviridae Infections [MESH:D018347] (977) 
 Hepatitis B [MESH:D006509] (976) 
 Hepatitis B, Chronic [MESH:D019694] (277)
 Herpesviridae Infections [MESH:D006566] (1944) 
 Encephalitis, Herpes Simplex [MESH:D020803] (72)
 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)
 Encephalitis, Viral [MESH:D018792] (183) 
 Encephalitis, Herpes Simplex [MESH:D020803] (72)
 Hepatitis, Viral, Human [MESH:D006525] (1766) 
 Hepatitis B [MESH:D006509] (976) 
 Hepatitis B, Chronic [MESH:D019694] (277)
 Hepatitis C [MESH:D006526] (1627) 
 Hepatitis C, Chronic [MESH:D019698] (142)
 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) 
 Flavivirus Infections [MESH:D018177] (159)
 Hepatitis C [MESH:D006526] (1627) 
 Hepatitis C, Chronic [MESH:D019698] (142)
 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) 
 Cardiovirus Infections [MESH:D018188] (1548)
 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) 
 Acquired Immunodeficiency Syndrome [MESH:D000163] (743)
 HIV-Associated Lipodystrophy Syndrome [MESH:D039682] (91)
 HIV Wasting Syndrome [MESH:D019247] (1956)
 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) 
 Acquired Immunodeficiency Syndrome [MESH:D000163] (743)
 HIV-Associated Lipodystrophy Syndrome [MESH:D039682] (91)
 HIV Wasting Syndrome [MESH:D019247] (1956)
 Skin Diseases, Viral [MESH:D017193] (203) 
 Warts [MESH:D014860] (172) 
 WHIM syndrome [MESH:C536697] (148)
 Slow Virus Diseases [MESH:D012897] (782) 
 Acquired Immunodeficiency Syndrome [MESH:D000163] (743)
 Tumor Virus Infections [MESH:D014412] (1069) 
 Papillomavirus Infections [MESH:D030361] (537)
 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)
 Opportunistic Infections [MESH:D009894] (949) 
 AIDS-Related Opportunistic Infections [MESH:D017088] (944) 
 AIDS-related Kaposi sarcoma [MESH:C554498] (914)
 Protozoan Infections [MESH:D011528] (3014) 
 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)
 Malaria [MESH:D008288] (2175) 
 Malaria, Falciparum [MESH:D016778] (438)
 Skin Diseases, Parasitic [MESH:D012876] (2541) 
 Leishmaniasis [MESH:D007896] (2516) 
 Leishmaniasis, Cutaneous [MESH:D016773] (2359)
C04. Neoplasms 
C04. Neoplasms
 Neoplasms [MESH:D009369] (10293) 
 Hamartoma [MESH:D006222] (1484)
 Neoplasms, Radiation-Induced [MESH:D009381] (174)
 Cysts [MESH:D003560] (2625) 
 Ovarian Cysts [MESH:D010048] (2534) 
 Polycystic Ovary Syndrome [MESH:D011085] (2186)
 Neoplasms by Histologic Type [MESH:D009370] (8793) 
 Leukemia [MESH:D007938] (4576) 
 Leukemia, Plasma Cell [MESH:D007952] (11)
 Leukemia, Lymphoid [MESH:D007945] (3047) 
 Leukemia, B-Cell [MESH:D015448] (2564) 
 Leukemia, Lymphocytic, Chronic, B-Cell [MESH:D015451] (2562)
 Leukemia, Prolymphocytic [MESH:D015463] (4) 
 Leukemia, Prolymphocytic, T-Cell [MESH:D015461] (2)
 Leukemia, T-Cell [MESH:D015458] (395) 
 Leukemia-Lymphoma, Adult T-Cell [MESH:D015459] (138)
 Leukemia, Prolymphocytic, T-Cell [MESH:D015461] (2)
 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, Megakaryoblastic, Acute [MESH:D007947] (279)
 Leukemia, Promyelocytic, Acute [MESH:D015473] (1367)
 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, Large-Cell, Anaplastic [MESH:D017728] (420)
 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, Primary Effusion [MESH:D054685] (2)
 Lymphoma, T-Cell [MESH:D016399] (1405) 
 Lymphoma, Extranodal NK-T-Cell [MESH:D054391] (132)
 Lymphoma, Large-Cell, Anaplastic [MESH:D017728] (420)
 Lymphoma, T-Cell, Cutaneous [MESH:D016410] (912)
 Neoplasms, Complex and Mixed [MESH:D018193] (1121) 
 Hepatoblastoma [MESH:D018197] (548)
 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)
 Chondroma [MESH:D002812] (155) 
 Chondromatosis [MESH:D018210] (52) 
 Metachondromatosis [MESH:C562938] (49)
 Chondrosarcoma [MESH:D002813] (1217) 
 Chondrosarcoma, Mesenchymal [MESH:D018211] (1161)
 Gastrointestinal Stromal Tumors [MESH:D046152] (170) 
 Carney-Stratakis Syndrome [MESH:C564650] (65)
 Mastocytosis [MESH:D008415] (792) 
 Mastocytosis, Systemic [MESH:D034721] (769)
 Neoplasms, Bone Tissue [MESH:D018213] (2217) 
 Osteosarcoma [MESH:D012516] (2175)
 Osteochondroma [MESH:D015831] (157) 
 Osteochondromatosis [MESH:D018216] (155) 
 Exostoses, Multiple Hereditary [MESH:D005097] (154) 
 Metachondromatosis [MESH:C562938] (49)
 Neoplasms, Fibrous Tissue [MESH:D018218] (1720) 
 Solitary Fibrous Tumors [MESH:D054364] (79)
 Fibroma [MESH:D005350] (1578) 
 Fibromatosis, Aggressive [MESH:D018222] (1562)
 Neoplasms, Muscle Tissue [MESH:D009379] (1965) 
 Leiomyoma [MESH:D007889] (744)
 Leiomyosarcoma [MESH:D007890] (977)
 Smooth Muscle Tumor [MESH:D018235] (132)
 Myosarcoma [MESH:D009217] (790) 
 Rhabdomyosarcoma [MESH:D012208] (789) 
 Rhabdomyosarcoma, Alveolar [MESH:D018232] (149)
 Rhabdomyosarcoma, Embryonal [MESH:D018233] (98)
 Sarcoma [MESH:D012509] (4246) 
 Hemangiosarcoma [MESH:D006394] (1836)
 Leiomyosarcoma [MESH:D007890] (977)
 Osteosarcoma [MESH:D012516] (2175)
 Sarcoma, Experimental [MESH:D012513] (128)
 Sarcoma, Synovial [MESH:D013584] (993)
 Chondrosarcoma [MESH:D002813] (1217) 
 Chondrosarcoma, Mesenchymal [MESH:D018211] (1161)
 Liposarcoma [MESH:D008080] (612) 
 Liposarcoma, Myxoid [MESH:D018208] (358)
 Myosarcoma [MESH:D009217] (790) 
 Rhabdomyosarcoma [MESH:D012208] (789) 
 Rhabdomyosarcoma, Alveolar [MESH:D018232] (149)
 Rhabdomyosarcoma, Embryonal [MESH:D018233] (98)
 Sarcoma, Kaposi [MESH:D012514] (1578) 
 AIDS-related Kaposi sarcoma [MESH:C554498] (914)
 Neoplasms, Germ Cell and Embryonal [MESH:D009373] (5126) 
 Testicular Germ Cell Tumor [MESH:C563236] (176)
 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)
 Astrocytoma [MESH:D001254] (2692) 
 Melanoma astrocytoma syndrome [MESH:C536149] (159)
 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) 
 Melanoma astrocytoma syndrome [MESH:C536149] (159)
 Melanoma-Pancreatic Cancer Syndrome [MESH:C563985] (159)
 Paraganglioma [MESH:D010235] (297) 
 Carney-Stratakis Syndrome [MESH:C564650] (65)
 Neoplasms, Glandular and Epithelial [MESH:D009375] (7760) 
 Adenoma [MESH:D000236] (4051) 
 Adenoma, Liver Cell [MESH:D018248] (685)
 Mesothelioma [MESH:D008654] (2567)
 Adenoma, Oxyphilic [MESH:D018249] (115) 
 Oncocytoma, renal [MESH:C537750] (35)
 Adenomatous Polyps [MESH:D018256] (1571) 
 Adenomatous Polyposis Coli [MESH:D011125] (1565) 
 Colorectal Adenomatous Polyposis, Autosomal Recessive [MESH:C563924] (28)
 Carcinoma [MESH:D002277] (7263) 
 Pancreatic cancer, adult [MESH:C535836] (572)
 Thyroid cancer, papillary [MESH:C536915] (111)
 Carcinoma, Basal Cell [MESH:D002280] (1628)
 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, Intraductal, Noninfiltrating [MESH:D002285] (500)
 Carcinoma, Renal Cell [MESH:D002292] (2975)
 Cholangiocarcinoma [MESH:D018281] (2398)
 Adrenocortical Carcinoma [MESH:D018268] (821) 
 Adrenocortical Carcinoma, Hereditary [MESH:C565972] (769)
 Carcinoma, Ductal [MESH:D044584] (1786) 
 Carcinoma, Ductal, Breast [MESH:D018270] (1112)
 Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)
 Carcinoma in Situ [MESH:D002278] (2111) 
 Cervical Intraepithelial Neoplasia [MESH:D018290] (56)
 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)
 Pilomatrixoma [MESH:D018296] (252)
 Neoplasms, Ductal, Lobular, and Medullary [MESH:D018299] (1831) 
 Carcinoma, Intraductal, Noninfiltrating [MESH:D002285] (500)
 Carcinoma, Ductal [MESH:D044584] (1786) 
 Carcinoma, Ductal, Breast [MESH:D018270] (1112)
 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)
 Astrocytoma [MESH:D001254] (2692) 
 Melanoma astrocytoma syndrome [MESH:C536149] (159)
 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) 
 Nerve Sheath Neoplasms [MESH:D018317] (365)
 Meningioma [MESH:D008579] (978) 
 Meningioma, familial [MESH:C537443] (195)
 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)
 Astrocytoma [MESH:D001254] (2692) 
 Melanoma astrocytoma syndrome [MESH:C536149] (159)
 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) 
 Melanoma astrocytoma syndrome [MESH:C536149] (159)
 Melanoma-Pancreatic Cancer Syndrome [MESH:C563985] (159)
 Paraganglioma [MESH:D010235] (297) 
 Carney-Stratakis Syndrome [MESH:C564650] (65)
 Neoplasms, Plasma Cell [MESH:D054219] (2772) 
 Plasmacytoma [MESH:D010954] (7)
 Waldenstrom Macroglobulinemia [MESH:D008258] (11)
 Multiple Myeloma [MESH:D009101] (2767) 
 Leukemia, Plasma Cell [MESH:D007952] (11)
 Neoplasms, Vascular Tissue [MESH:D009383] (2959) 
 Angiokeratoma [MESH:D000794] (54)
 Hemangiosarcoma [MESH:D006394] (1836)
 Hemangioma [MESH:D006391] (690) 
 Hemangioendothelioma [MESH:D006390] (43) 
 Hemangioendothelioma, Epithelioid [MESH:D018323] (34)
 Hemangioma, Capillary [MESH:D018324] (503) 
 Hemangioma, capillary infantile [MESH:C535860] (190)
 Hemangioblastoma [MESH:D018325] (395)
 Hemangioma, Cavernous [MESH:D006392] (38) 
 Hemangioma, Cavernous, Central Nervous System [MESH:D020786] (35)
 Meningioma [MESH:D008579] (978) 
 Meningioma, familial [MESH:C537443] (195)
 Sarcoma, Kaposi [MESH:D012514] (1578) 
 AIDS-related Kaposi sarcoma [MESH:C554498] (914)
 Nevi and Melanomas [MESH:D018326] (3572) 
 Melanoma [MESH:D008545] (3508) 
 Melanoma astrocytoma syndrome [MESH:C536149] (159)
 Melanoma-Pancreatic Cancer Syndrome [MESH:C563985] (159)
 Neoplasms by Site [MESH:D009371] (9169) 
 Skin Neoplasms [MESH:D012878] (2992)
 Soft Tissue Neoplasms [MESH:D012983] (2003)
 Bone Neoplasms [MESH:D001859] (1334) 
 Metachondromatosis [MESH:C562938] (49)
 Breast Neoplasms [MESH:D001943] (6077) 
 Carcinoma, Ductal, Breast [MESH:D018270] (1112)
 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) 
 Turcot syndrome [MESH:C536928] (159)
 Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258)
 Rectal Neoplasms [MESH:D012004] (717)
 Adenomatous Polyposis Coli [MESH:D011125] (1565) 
 Colorectal Adenomatous Polyposis, Autosomal Recessive [MESH:C563924] (28)
 Colonic Neoplasms [MESH:D003110] (4405) 
 Adenomatous Polyposis Coli [MESH:D011125] (1565) 
 Colorectal Adenomatous Polyposis, Autosomal Recessive [MESH:C563924] (28)
 Liver Neoplasms [MESH:D008113] (6048) 
 Adenoma, Liver Cell [MESH:D018248] (685)
 Carcinoma, Hepatocellular [MESH:D006528] (5375)
 Liver Neoplasms, Experimental [MESH:D008114] (2837)
 Pancreatic Neoplasms [MESH:D010190] (3820) 
 Pancreatic cancer, adult [MESH:C535836] (572)
 Melanoma-Pancreatic Cancer Syndrome [MESH:C563985] (159)
 Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)
 Endocrine Gland Neoplasms [MESH:D004701] (4925) 
 Pituitary Neoplasms [MESH:D010911] (981)
 Adrenal Gland Neoplasms [MESH:D000310] (917) 
 Adrenal Cortex Neoplasms [MESH:D000306] (823) 
 Adrenocortical Carcinoma [MESH:D018268] (821) 
 Adrenocortical Carcinoma, Hereditary [MESH:C565972] (769)
 Multiple Endocrine Neoplasia [MESH:D009377] (375) 
 Multiple Endocrine Neoplasia, Type IV [MESH:C567059] (297)
 Ovarian Neoplasms [MESH:D010051] (3275) 
 Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)
 Pancreatic Neoplasms [MESH:D010190] (3820) 
 Pancreatic cancer, adult [MESH:C535836] (572)
 Melanoma-Pancreatic Cancer Syndrome [MESH:C563985] (159)
 Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)
 Testicular Neoplasms [MESH:D013736] (520) 
 Testicular Germ Cell Tumor [MESH:C563236] (176)
 Thyroid Neoplasms [MESH:D013964] (2040) 
 Thyroid cancer, anaplastic [MESH:C536910] (489)
 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) 
 Leukoplakia, Oral [MESH:D007972] (921)
 Salivary Gland Neoplasms [MESH:D012468] (968)
 Tongue Neoplasms [MESH:D014062] (1518)
 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, anaplastic [MESH:C536910] (489)
 Thyroid cancer, papillary [MESH:C536915] (111)
 Mammary Neoplasms, Animal [MESH:D015674] (3404) 
 Mammary Neoplasms, Experimental [MESH:D008325] (3268)
 Nervous System Neoplasms [MESH:D009423] (3130) 
 Melanoma astrocytoma syndrome [MESH:C536149] (159)
 Central Nervous System Neoplasms [MESH:D016543] (3055) 
 Brain Neoplasms [MESH:D001932] (2764) 
 Turcot syndrome [MESH:C536928] (159)
 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) 
 Meningioma, familial [MESH:C537443] (195)
 Thoracic Neoplasms [MESH:D013899] (6032) 
 Thymus Neoplasms [MESH:D013953] (247)
 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) 
 Vaginal Neoplasms [MESH:D014625] (363)
 Uterine Neoplasms [MESH:D014594] (2431) 
 Endometrial Neoplasms [MESH:D016889] (1987)
 Uterine Cervical Neoplasms [MESH:D002583] (978)
 Genital Neoplasms, Male [MESH:D005834] (6224) 
 Penile Neoplasms [MESH:D010412] (890)
 Prostatic Neoplasms [MESH:D011471] (6135)
 Testicular Neoplasms [MESH:D013736] (520) 
 Testicular Germ Cell Tumor [MESH:C563236] (176)
 Urologic Neoplasms [MESH:D014571] (5315) 
 Ureteral Neoplasms [MESH:D014516] (574)
 Urinary Bladder Neoplasms [MESH:D001749] (4079)
 Kidney Neoplasms [MESH:D007680] (3966) 
 Oncocytoma, renal [MESH:C537750] (35)
 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)
 Sarcoma, Experimental [MESH:D012513] (128)
 Tumor Virus Infections [MESH:D014412] (697) 
 Epstein-Barr Virus Infections [MESH:D020031] (693) 
 Burkitt Lymphoma [MESH:D002051] (691)
 Neoplasms, Multiple Primary [MESH:D009378] (961) 
 Multiple Endocrine Neoplasia [MESH:D009377] (375) 
 Multiple Endocrine Neoplasia, Type IV [MESH:C567059] (297)
 Neoplastic Processes [MESH:D009385] (5317) 
 Anaplasia [MESH:D000708] (348)
 Neoplasm Invasiveness [MESH:D009361] (3388)
 Neoplasm Recurrence, Local [MESH:D009364] (1949)
 Neoplasm, Residual [MESH:D018365] (478)
 Carcinogenesis [MESH:D063646] (3391) 
 Cell Transformation, Neoplastic [MESH:D002471] (3389)
 Neoplasm Metastasis [MESH:D009362] (4441) 
 Lymphatic Metastasis [MESH:D008207] (917)
 Neoplastic Syndromes, Hereditary [MESH:D009386] (2578) 
 Hemangioma, capillary infantile [MESH:C535860] (190)
 Turcot syndrome [MESH:C536928] (159)
 Meningioma, familial [MESH:C537443] (195)
 Melanoma-Pancreatic Cancer Syndrome [MESH:C563985] (159)
 Birt-Hogg-Dube Syndrome [MESH:D058249] (35)
 Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (260)
 Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)
 Li-Fraumeni Syndrome [MESH:D016864] (859)
 Adenomatous Polyposis Coli [MESH:D011125] (1565) 
 Colorectal Adenomatous Polyposis, Autosomal Recessive [MESH:C563924] (28)
 Exostoses, Multiple Hereditary [MESH:D005097] (154) 
 Metachondromatosis [MESH:C562938] (49)
 Multiple Endocrine Neoplasia [MESH:D009377] (375) 
 Multiple Endocrine Neoplasia, Type IV [MESH:C567059] (297)
 Wilms Tumor [MESH:D009396] (553) 
 Denys-Drash Syndrome [MESH:D030321] (57)
 WAGR Syndrome [MESH:D017624] (270)
 Precancerous Conditions [MESH:D011230] (2858) 
 Aberrant Crypt Foci [MESH:D058739] (326)
 Leukoplakia [MESH:D007971] (922) 
 Leukoplakia, Oral [MESH:D007972] (921)
 Xeroderma Pigmentosum [MESH:D014983] (213) 
 Xeroderma Pigmentosum, Complementation Group B [MESH:C562590] (31)
 Xeroderma Pigmentosum, Complementation Group D [MESH:C562591] (48)
 Xeroderma Pigmentosum, Complementation Group F [MESH:C562592] (38)
 XFE Progeroid Syndrome [MESH:C567043] (38)
 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) 
 Cartilage Diseases [MESH:D002357] (438)
 Bone Diseases [MESH:D001847] (5801) 
 Bone Diseases, Developmental [MESH:D001848] (3315) 
 Marfan Syndrome [MESH:D008382] (646)
 Acro-Osteolysis [MESH:D030981] (548) 
 Mandibuloacral dysplasia with type A lipodystrophy [MESH:C535705] (490)
 Hajdu-Cheney Syndrome [MESH:D031845] (42)
 Dwarfism [MESH:D004392] (778) 
 Rapadilino syndrome [MESH:C535288] (30)
 Laron Syndrome [MESH:D046150] (91)
 Cockayne Syndrome [MESH:D003057] (107) 
 XFE Progeroid Syndrome [MESH:C567043] (38)
 Dwarfism, Pituitary [MESH:D004393] (235) 
 Short Stature, Idiopathic, Autosomal [MESH:C565805] (194)
 Dysostoses [MESH:D004413] (1019) 
 Synostosis [MESH:D013580] (817) 
 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia [MESH:C565328] (23)
 Craniosynostoses [MESH:D003398] (438) 
 Craniosynostosis radial aplasia syndrome [MESH:C536788] (30)
 Osteochondrodysplasias [MESH:D010009] (2440) 
 Wolcott-Rallison syndrome [MESH:C536739] (92)
 Metaphyseal Anadysplasia 2 [MESH:C567771] (452)
 Cleidocranial Dysplasia [MESH:D002973] (129)
 Enchondromatosis [MESH:D004687] (170)
 Langer-Giedion Syndrome [MESH:D015826] (25)
 Osteochondroma [MESH:D015831] (157) 
 Osteochondromatosis [MESH:D018216] (155) 
 Exostoses, Multiple Hereditary [MESH:D005097] (154) 
 Metachondromatosis [MESH:C562938] (49)
 Bone Diseases, Endocrine [MESH:D001849] (747) 
 Dwarfism, Pituitary [MESH:D004393] (235) 
 Short Stature, Idiopathic, Autosomal [MESH:C565805] (194)
 Bone Diseases, Metabolic [MESH:D001851] (3492) 
 Osteoporosis [MESH:D010024] (3037) 
 Osteoporosis, Postmenopausal [MESH:D015663] (2351)
 Bone Neoplasms [MESH:D001859] (1334) 
 Metachondromatosis [MESH:C562938] (49)
 Bone Resorption [MESH:D001862] (2352) 
 Osteolysis [MESH:D010014] (1787) 
 Acro-Osteolysis [MESH:D030981] (548) 
 Mandibuloacral dysplasia with type A lipodystrophy [MESH:C535705] (490)
 Hajdu-Cheney Syndrome [MESH:D031845] (42)
 Hyperostosis [MESH:D015576] (493) 
 Exostoses [MESH:D005096] (160) 
 Exostoses, Multiple Hereditary [MESH:D005097] (154) 
 Metachondromatosis [MESH:C562938] (49)
 Osteitis Deformans [MESH:D010001] (287) 
 Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia [MESH:C563476] (57)
 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)
 Spinal Curvatures [MESH:D013121] (742) 
 Kyphosis [MESH:D007738] (637)
 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) 
 Trichorhinophalangeal Syndrome, Type III [MESH:C566033] (24)
 Clubfoot [MESH:D003025] (79)
 Hand Deformities [MESH:D006226] (590) 
 Hand Deformities, Congenital [MESH:D006228] (587) 
 Heart-hand syndrome, Slovenian type [MESH:C535852] (77)
 Trichorhinophalangeal Syndrome, Type III [MESH:C566033] (24)
 Jaw Diseases [MESH:D007571] (1601) 
 Jaw Abnormalities [MESH:D007569] (1435) 
 Cleft Palate [MESH:D002972] (1330) 
 Orofacial Cleft 1 [MESH:C566121] (81)
 Orofacial Cleft 10 [MESH:C566605] (39)
 Micrognathism [MESH:D008844] (230) 
 Meier-Gorlin syndrome [MESH:C538012] (133)
 Joint Diseases [MESH:D007592] (4657) 
 Calcification of Joints and Arteries [MESH:C565891] (60)
 Ankylosis [MESH:D000844] (479) 
 Spondylitis, Ankylosing [MESH:D013167] (431)
 Arthritis [MESH:D001168] (4416) 
 Arthritis, Experimental [MESH:D001169] (3142)
 Arthritis, Infectious [MESH:D001170] (1702)
 Arthritis, Juvenile [MESH:D001171] (1060)
 Arthritis, Psoriatic [MESH:D015535] (1859)
 Arthritis, Rheumatoid [MESH:D001172] (3603)
 Osteoarthritis [MESH:D010003] (1743)
 Spondylarthritis [MESH:D025241] (1912) 
 Spondylarthropathies [MESH:D025242] (1909) 
 Arthritis, Psoriatic [MESH:D015535] (1859)
 Spondylitis, Ankylosing [MESH:D013167] (431)
 Arthrogryposis [MESH:D001176] (329) 
 Cerebrooculofacioskeletal Syndrome 2 [MESH:C565185] (48)
 Contracture [MESH:D003286] (296) 
 Tight skin contracture syndrome, lethal [MESH:C536920] (84)
 Muscular Diseases [MESH:D009135] (4071) 
 Alpha-B Crystallinopathy [MESH:C563848] (135)
 Muscle Weakness [MESH:D018908] (478)
 Myopathies, Structural, Congenital [MESH:D020914] (272)
 Arthrogryposis [MESH:D001176] (329) 
 Cerebrooculofacioskeletal Syndrome 2 [MESH:C565185] (48)
 Contracture [MESH:D003286] (303) 
 Tight skin contracture syndrome, lethal [MESH:C536920] (84)
 Mitochondrial Myopathies [MESH:D017240] (2176) 
 Ophthalmoplegia, Chronic Progressive External [MESH:D017246] (1313) 
 Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 [MESH:C567768] (50)
 Muscle Rigidity [MESH:D009127] (617) 
 Hyperexplexia hereditary [MESH:C538136] (80)
 Muscular Disorders, Atrophic [MESH:D020966] (1598) 
 Muscular Dystrophies [MESH:D009136] (1593) 
 Muscular Dystrophy, Congenital, Lmna-Related [MESH:C567708] (77)
 Muscular Dystrophy, Duchenne [MESH:D020388] (942)
 Muscular Dystrophy, Emery-Dreifuss [MESH:D020389] (169)
 Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854)
 Muscular Dystrophies, Limb-Girdle [MESH:D049288] (259) 
 Limb-girdle muscular dystrophy, type 1B [MESH:C535898] (77)
 Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia [MESH:C563476] (57)
 Myositis [MESH:D009220] (2071) 
 Dermatomyositis [MESH:D003882] (1826)
 Myositis, Inclusion Body [MESH:D018979] (103) 
 Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia [MESH:C563476] (57)
 Polymyositis [MESH:D017285] (2007) 
 Dermatomyositis [MESH:D003882] (1826)
 Musculoskeletal Abnormalities [MESH:D009139] (3796) 
 Arthrogryposis [MESH:D001176] (329) 
 Cerebrooculofacioskeletal Syndrome 2 [MESH:C565185] (48)
 Craniofacial Abnormalities [MESH:D019465] (3098) 
 LIG4 Syndrome [MESH:C564694] (24)
 Cerebrooculofacioskeletal Syndrome 2 [MESH:C565185] (48)
 Cleidocranial Dysplasia [MESH:D002973] (129)
 Costello Syndrome [MESH:D056685] (407)
 Holoprosencephaly [MESH:D016142] (218)
 Microcephaly [MESH:D008831] (700)
 22q11 Deletion Syndrome [MESH:D058165] (237) 
 DiGeorge Syndrome [MESH:D004062] (236)
 Craniosynostoses [MESH:D003398] (438) 
 Craniosynostosis radial aplasia syndrome [MESH:C536788] (30)
 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) 
 Orofacial Cleft 1 [MESH:C566121] (81)
 Orofacial Cleft 10 [MESH:C566605] (39)
 Micrognathism [MESH:D008844] (230) 
 Meier-Gorlin syndrome [MESH:C538012] (133)
 Noonan Syndrome [MESH:D009634] (506) 
 Noonan Syndrome 5 [MESH:C548083] (169)
 Plagiocephaly [MESH:D059041] (440) 
 Craniosynostoses [MESH:D003398] (438) 
 Craniosynostosis radial aplasia syndrome [MESH:C536788] (30)
 Limb Deformities, Congenital [MESH:D017880] (1813) 
 Rapadilino syndrome [MESH:C535288] (30)
 Chondrodysplasia, acromesomelic, with genital anomalies [MESH:C537913] (20)
 Metaphyseal Anadysplasia 2 [MESH:C567771] (452)
 Brachydactyly [MESH:D059327] (220) 
 Brachydactyly type A2 [MESH:C537089] (28)
 Lower Extremity Deformities, Congenital [MESH:D038061] (560) 
 Foot Deformities, Congenital [MESH:D005532] (538) 
 Trichorhinophalangeal Syndrome, Type III [MESH:C566033] (24)
 Clubfoot [MESH:D003025] (79)
 Polydactyly [MESH:D017689] (318) 
 Meckel Syndrome, Type 4 [MESH:C567003] (20)
 Upper Extremity Deformities, Congenital [MESH:D038062] (604) 
 Hand Deformities, Congenital [MESH:D006228] (587) 
 Heart-hand syndrome, Slovenian type [MESH:C535852] (77)
 Trichorhinophalangeal Syndrome, Type III [MESH:C566033] (24)
 Synostosis [MESH:D013580] (817) 
 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia [MESH:C565328] (23)
 Craniosynostoses [MESH:D003398] (438) 
 Craniosynostosis radial aplasia syndrome [MESH:C536788] (30)
 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) 
 Cholangitis [MESH:D002761] (203)
 Cholestasis [MESH:D002779] (3419) 
 Cholestasis, Intrahepatic [MESH:D002780] (1510) 
 Intrahepatic Cholestasis of Pregnancy [MESH:C535932] (101)
 Cholestasis, progressive familial intrahepatic 1 [MESH:C535933] (263)
 Cholestasis, progressive familial intrahepatic 3 [MESH:C535935] (101)
 Alagille Syndrome [MESH:D016738] (105)
 Liver Cirrhosis, Biliary [MESH:D008105] (1274)
 Biliary Tract Neoplasms [MESH:D001661] (1165) 
 Gallbladder Neoplasms [MESH:D005706] (993)
 Gallbladder Diseases [MESH:D005705] (1215) 
 Gallbladder Neoplasms [MESH:D005706] (993)
 Digestive System Abnormalities [MESH:D004065] (2127) 
 Barrett Esophagus [MESH:D001471] (1930)
 Hirschsprung Disease [MESH:D006627] (361) 
 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease [MESH:C563789] (17)
 Waardenburg Syndrome, Type 4c [MESH:C567679] (17)
 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)
 Gastrointestinal Stromal Tumors [MESH:D046152] (170) 
 Carney-Stratakis Syndrome [MESH:C564650] (65)
 Intestinal Neoplasms [MESH:D007414] (5359) 
 Cecal Neoplasms [MESH:D002430] (822)
 Colorectal Neoplasms [MESH:D015179] (5294) 
 Turcot syndrome [MESH:C536928] (159)
 Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258)
 Rectal Neoplasms [MESH:D012004] (717)
 Colonic Neoplasms [MESH:D003110] (4405) 
 Adenomatous Polyposis Coli [MESH:D011125] (1565) 
 Colorectal Adenomatous Polyposis, Autosomal Recessive [MESH:C563924] (28)
 Liver Neoplasms [MESH:D008113] (6048) 
 Adenoma, Liver Cell [MESH:D018248] (685)
 Carcinoma, Hepatocellular [MESH:D006528] (5375)
 Liver Neoplasms, Experimental [MESH:D008114] (2837)
 Pancreatic Neoplasms [MESH:D010190] (3820) 
 Pancreatic cancer, adult [MESH:C535836] (572)
 Melanoma-Pancreatic Cancer Syndrome [MESH:C563985] (159)
 Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)
 Gastrointestinal Diseases [MESH:D005767] (7443) 
 Esophageal Diseases [MESH:D004935] (4255) 
 Barrett Esophagus [MESH:D001471] (1930)
 Esophageal Stenosis [MESH:D004940] (490)
 Deglutition Disorders [MESH:D003680] (1538) 
 Esophageal Motility Disorders [MESH:D015154] (1489) 
 Gastroesophageal Reflux [MESH:D005764] (1465)
 Esophageal Neoplasms [MESH:D004938] (3737) 
 Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)
 Adenocarcinoma Of Esophagus [MESH:C562730] (1530)
 Esophagitis [MESH:D004941] (1120) 
 Esophagitis, Peptic [MESH:D004942] (709)
 Gastroenteritis [MESH:D005759] (4066) 
 Appendicitis [MESH:D001064] (774)
 Mucositis [MESH:D052016] (1238)
 Colitis [MESH:D003092] (3199) 
 Colitis, Ulcerative [MESH:D003093] (2601)
 Enterocolitis [MESH:D004760] (1536) 
 Enterocolitis, Necrotizing [MESH:D020345] (1367)
 Esophagitis [MESH:D004941] (1120) 
 Esophagitis, Peptic [MESH:D004942] (709)
 Inflammatory Bowel Diseases [MESH:D015212] (3492) 
 Colitis, Ulcerative [MESH:D003093] (2601)
 Crohn Disease [MESH:D003424] (2585)
 Gastrointestinal Hemorrhage [MESH:D006471] (815) 
 Peptic Ulcer Hemorrhage [MESH:D010438] (553)
 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)
 Gastrointestinal Stromal Tumors [MESH:D046152] (170) 
 Carney-Stratakis Syndrome [MESH:C564650] (65)
 Intestinal Neoplasms [MESH:D007414] (5359) 
 Cecal Neoplasms [MESH:D002430] (822)
 Colorectal Neoplasms [MESH:D015179] (5294) 
 Turcot syndrome [MESH:C536928] (159)
 Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258)
 Rectal Neoplasms [MESH:D012004] (717)
 Colonic Neoplasms [MESH:D003110] (4405) 
 Adenomatous Polyposis Coli [MESH:D011125] (1565) 
 Colorectal Adenomatous Polyposis, Autosomal Recessive [MESH:C563924] (28)
 Intestinal Diseases [MESH:D007410] (6206) 
 Intestinal Perforation [MESH:D007416] (471)
 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) 
 Turcot syndrome [MESH:C536928] (159)
 Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258)
 Colonic Neoplasms [MESH:D003110] (4405) 
 Adenomatous Polyposis Coli [MESH:D011125] (1565) 
 Colorectal Adenomatous Polyposis, Autosomal Recessive [MESH:C563924] (28)
 Megacolon [MESH:D008531] (386) 
 Hirschsprung Disease [MESH:D006627] (361) 
 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease [MESH:C563789] (17)
 Waardenburg Syndrome, Type 4c [MESH:C567679] (17)
 Duodenal Diseases [MESH:D004378] (1982) 
 Peptic Ulcer [MESH:D010437] (1969) 
 Duodenal Ulcer [MESH:D004381] (1549)
 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)
 Intestinal Neoplasms [MESH:D007414] (5359) 
 Cecal Neoplasms [MESH:D002430] (822)
 Colorectal Neoplasms [MESH:D015179] (5294) 
 Turcot syndrome [MESH:C536928] (159)
 Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258)
 Rectal Neoplasms [MESH:D012004] (717)
 Colonic Neoplasms [MESH:D003110] (4405) 
 Adenomatous Polyposis Coli [MESH:D011125] (1565) 
 Colorectal Adenomatous Polyposis, Autosomal Recessive [MESH:C563924] (28)
 Intestinal Polyposis [MESH:D044483] (1610) 
 Adenomatous Polyposis Coli [MESH:D011125] (1565) 
 Colorectal Adenomatous Polyposis, Autosomal Recessive [MESH:C563924] (28)
 Malabsorption Syndromes [MESH:D008286] (492) 
 Celiac Disease [MESH:D002446] (340)
 Rectal Diseases [MESH:D012002] (4596) 
 Colorectal Neoplasms [MESH:D015179] (4534) 
 Turcot syndrome [MESH:C536928] (159)
 Rectal Neoplasms [MESH:D012004] (717)
 Peptic Ulcer [MESH:D010437] (3172) 
 Duodenal Ulcer [MESH:D004381] (1549)
 Esophagitis, Peptic [MESH:D004942] (709)
 Stomach Ulcer [MESH:D013276] (2915)
 Stomach Diseases [MESH:D013272] (5325) 
 Gastroparesis [MESH:D018589] (732)
 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)
 Hepatolenticular Degeneration [MESH:D006527] (473)
 Hepatomegaly [MESH:D006529] (1169)
 Hepatorenal Syndrome [MESH:D006530] (910)
 Hypertension, Portal [MESH:D006975] (869)
 Liver Diseases, Parasitic [MESH:D008109] (1009)
 Cholestasis, Intrahepatic [MESH:D002780] (1510) 
 Intrahepatic Cholestasis of Pregnancy [MESH:C535932] (101)
 Cholestasis, progressive familial intrahepatic 1 [MESH:C535933] (263)
 Cholestasis, progressive familial intrahepatic 3 [MESH:C535935] (101)
 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) 
 End Stage Liver Disease [MESH:D058625] (108)
 Hepatic Encephalopathy [MESH:D006501] (1795)
 Liver Failure, Acute [MESH:D017114] (2404) 
 Massive Hepatic Necrosis [MESH:D047508] (93)
 Hepatitis [MESH:D006505] (3883) 
 Hepatitis, Alcoholic [MESH:D006519] (1613)
 Hepatitis, Chronic [MESH:D006521] (2071) 
 Hepatitis, Autoimmune [MESH:D019693] (1982)
 Hepatitis B, Chronic [MESH:D019694] (277)
 Hepatitis C, Chronic [MESH:D019698] (142)
 Hepatitis, Viral, Human [MESH:D006525] (1766) 
 Hepatitis B [MESH:D006509] (976) 
 Hepatitis B, Chronic [MESH:D019694] (277)
 Hepatitis C [MESH:D006526] (1627) 
 Hepatitis C, Chronic [MESH:D019698] (142)
 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) 
 Adenoma, Liver Cell [MESH:D018248] (685)
 Carcinoma, Hepatocellular [MESH:D006528] (5375)
 Liver Neoplasms, Experimental [MESH:D008114] (2837)
 Porphyrias, Hepatic [MESH:D017094] (881) 
 Porphyria Cutanea Tarda [MESH:D017119] (766)
 Pancreatic Diseases [MESH:D010182] (4453) 
 Pancreatic Neoplasms [MESH:D010190] (3820) 
 Pancreatic cancer, adult [MESH:C535836] (572)
 Melanoma-Pancreatic Cancer Syndrome [MESH:C563985] (159)
 Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)
 Pancreatitis [MESH:D010195] (1924) 
 Pancreatitis, Chronic [MESH:D050500] (276)
 Peritoneal Diseases [MESH:D010532] (1119) 
 Peritonitis [MESH:D010538] (800)
C07. Stomatognathic Diseases 
C07. Stomatognathic Diseases
 Stomatognathic Diseases [MESH:D009057] (5348) 
 Jaw Diseases [MESH:D007571] (1608) 
 Jaw Abnormalities [MESH:D007569] (1435) 
 Cleft Palate [MESH:D002972] (1330) 
 Orofacial Cleft 1 [MESH:C566121] (81)
 Orofacial Cleft 10 [MESH:C566605] (39)
 Micrognathism [MESH:D008844] (230) 
 Meier-Gorlin syndrome [MESH:C538012] (133)
 Mouth Diseases [MESH:D009059] (4783) 
 Behcet Syndrome [MESH:D001528] (1784)
 Mucositis [MESH:D052016] (1238)
 Oral Submucous Fibrosis [MESH:D009914] (2432)
 Oral Ulcer [MESH:D019226] (488)
 Stomatitis [MESH:D013280] (1235)
 Lip Diseases [MESH:D008047] (924) 
 Cleft Lip [MESH:D002971] (914) 
 Orofacial Cleft 1 [MESH:C566121] (81)
 Orofacial Cleft 10 [MESH:C566605] (39)
 Mouth Abnormalities [MESH:D009056] (1383) 
 Cleft Lip [MESH:D002971] (914) 
 Orofacial Cleft 1 [MESH:C566121] (81)
 Orofacial Cleft 10 [MESH:C566605] (39)
 Cleft Palate [MESH:D002972] (1330) 
 Orofacial Cleft 1 [MESH:C566121] (81)
 Orofacial Cleft 10 [MESH:C566605] (39)
 Mouth Neoplasms [MESH:D009062] (2263) 
 Leukoplakia, Oral [MESH:D007972] (921)
 Salivary Gland Neoplasms [MESH:D012468] (968)
 Tongue Neoplasms [MESH:D014062] (1518)
 Periodontal Diseases [MESH:D010510] (1001) 
 Periodontitis [MESH:D010518] (843)
 Salivary Gland Diseases [MESH:D012466] (1213) 
 Salivary Gland Neoplasms [MESH:D012468] (968)
 Tongue Diseases [MESH:D014060] (1544) 
 Tongue Neoplasms [MESH:D014062] (1518)
 Pharyngeal Diseases [MESH:D010608] (1562) 
 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)
 Stomatognathic System Abnormalities [MESH:D018640] (1705) 
 Tooth Abnormalities [MESH:D014071] (622)
 Maxillofacial Abnormalities [MESH:D019767] (1447) 
 Jaw Abnormalities [MESH:D007569] (1438) 
 Cleft Palate [MESH:D002972] (1330) 
 Orofacial Cleft 1 [MESH:C566121] (81)
 Orofacial Cleft 10 [MESH:C566605] (39)
 Micrognathism [MESH:D008844] (230) 
 Meier-Gorlin syndrome [MESH:C538012] (133)
 Mouth Abnormalities [MESH:D009056] (1383) 
 Cleft Lip [MESH:D002971] (914) 
 Orofacial Cleft 1 [MESH:C566121] (81)
 Orofacial Cleft 10 [MESH:C566605] (39)
 Cleft Palate [MESH:D002972] (1330) 
 Orofacial Cleft 1 [MESH:C566121] (81)
 Orofacial Cleft 10 [MESH:C566605] (39)
 Tooth Diseases [MESH:D014076] (742) 
 Tooth Abnormalities [MESH:D014071] (622)
C08. Respiratory Tract Diseases 
C08. Respiratory Tract Diseases
 Z. Exceptions (1984) 
 Not Fully Specified [NFS] (1984)
 Respiratory Tract Diseases [MESH:D012140] (7881) 
 Granuloma, Respiratory Tract [MESH:D015769] (502)
 Bronchial Diseases [MESH:D001982] (4382) 
 Bronchial Hyperreactivity [MESH:D016535] (1357)
 Bronchiectasis [MESH:D001987] (1792)
 Asthma [MESH:D001249] (4098) 
 Asthma, Aspirin-Induced [MESH:D055963] (1055)
 Bronchitis [MESH:D001991] (993) 
 Bronchitis, Chronic [MESH:D029481] (569)
 Lung Diseases [MESH:D008171] (7249) 
 Hypertension, Pulmonary [MESH:D006976] (2000)
 Pulmonary Edema [MESH:D011654] (2109)
 Pulmonary Embolism [MESH:D011655] (1118)
 Pulmonary Fibrosis [MESH:D011658] (3140)
 Respiratory Distress Syndrome, Adult [MESH:D012128] (864)
 Tuberculosis, Pulmonary [MESH:D014397] (678)
 Lung Diseases, Interstitial [MESH:D017563] (2966) 
 Alveolitis, Extrinsic Allergic [MESH:D000542] (496)
 Pneumoconiosis [MESH:D011009] (2789) 
 Anthracosis [MESH:D055008] (1805)
 Berylliosis [MESH:D001607] (2005)
 Silicosis [MESH:D012829] (1273)
 Lung Diseases, Obstructive [MESH:D008173] (4697) 
 Asthma [MESH:D001249] (3903)
 Bronchitis [MESH:D001991] (993) 
 Bronchitis, Chronic [MESH:D029481] (569)
 Pulmonary Disease, Chronic Obstructive [MESH:D029424] (3564) 
 Bronchitis, Chronic [MESH:D029481] (569)
 Pulmonary Emphysema [MESH:D011656] (1259)
 Lung Injury [MESH:D055370] (3688) 
 Acute Lung Injury [MESH:D055371] (1907)
 Pneumoconiosis [MESH:D011009] (2789) 
 Anthracosis [MESH:D055008] (1805)
 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, Viral [MESH:D011024] (125)
 Pleural Diseases [MESH:D010995] (2240) 
 Pleurisy [MESH:D010998] (2070)
 Pneumothorax [MESH:D011030] (42) 
 Pneumothorax, Primary Spontaneous [MESH:C566795] (35)
 Respiration Disorders [MESH:D012120] (2218) 
 Cough [MESH:D003371] (179)
 Respiratory Distress Syndrome, Adult [MESH:D012128] (864)
 Respiratory Insufficiency [MESH:D012131] (841)
 Hyperventilation [MESH:D006985] (654) 
 Pitt-Hopkins syndrome [MESH:C537403] (113)
 Respiratory Hypersensitivity [MESH:D012130] (4401) 
 Ige Responsiveness, Atopic [MESH:C564133] (267)
 Alveolitis, Extrinsic Allergic [MESH:D000542] (495)
 Asthma [MESH:D001249] (4098) 
 Asthma, Aspirin-Induced [MESH:D055963] (1055)
 Respiratory Tract Infections [MESH:D012141] (3926) 
 Influenza, Human [MESH:D007251] (1075)
 Pleurisy [MESH:D010998] (2070)
 Severe Acute Respiratory Syndrome [MESH:D045169] (127)
 Tuberculosis, Pulmonary [MESH:D014397] (678)
 Bronchitis [MESH:D001991] (588) 
 Bronchitis, Chronic [MESH:D029481] (569)
 Pneumonia [MESH:D011014] (3482) 
 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)
C09. Otorhinolaryngologic Diseases 
C09. Otorhinolaryngologic Diseases
 Otorhinolaryngologic Diseases [MESH:D010038] (3827) 
 Ear Diseases [MESH:D004427] (2522) 
 Hearing Disorders [MESH:D006311] (2103) 
 Tinnitus [MESH:D014012] (109)
 Hearing Loss [MESH:D034381] (2068) 
 Hearing Loss, Bilateral [MESH:D006312] (55)
 Hearing Loss, Sudden [MESH:D003639] (56)
 Deafness [MESH:D003638] (623) 
 Yemenite deaf-blind hypopigmentation syndrome [MESH:C536771] (17)
 Hearing Loss, Sensorineural [MESH:D006319] (1227) 
 Charcot-Marie-Tooth disease, Type 2J [MESH:C535417] (22)
 Griscelli syndrome type 1 [MESH:C537301] (42)
 Labyrinth Diseases [MESH:D007759] (846) 
 Vestibular Diseases [MESH:D015837] (819)
 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) 
 Chronobiology Disorders [MESH:D021081] (970)
 Autoimmune Diseases of the Nervous System [MESH:D020274] (2238) 
 Myasthenia Gravis [MESH:D009157] (632)
 Uveomeningoencephalitic Syndrome [MESH:D014607] (39)
 Demyelinating Autoimmune Diseases, CNS [MESH:D020278] (1732) 
 Neuromyelitis Optica [MESH:D009471] (248)
 Multiple Sclerosis [MESH:D009103] (1716) 
 Neuromyelitis Optica [MESH:D009471] (248)
 Myelitis, Transverse [MESH:D009188] (255) 
 Neuromyelitis Optica [MESH:D009471] (248)
 Nervous System Autoimmune Disease, Experimental [MESH:D020721] (810) 
 Encephalomyelitis, Autoimmune, Experimental [MESH:D004681] (806)
 Autonomic Nervous System Diseases [MESH:D001342] (882) 
 dopamine beta hydroxylase deficiency [MESH:C535600] (63)
 Primary Dysautonomias [MESH:D054969] (775) 
 Orthostatic Intolerance [MESH:D054971] (720) 
 Hypotension, Orthostatic [MESH:D007024] (679)
 Central Nervous System Diseases [MESH:D002493] (9745) 
 Endocrine-Cerebroosteodysplasia [MESH:C567210] (26)
 Brain Diseases [MESH:D001927] (9294) 
 Brain Edema [MESH:D001929] (1165)
 Brain Injuries [MESH:D001930] (3429)
 Basal Ganglia Diseases [MESH:D001480] (4268) 
 Hepatolenticular Degeneration [MESH:D006527] (473)
 Supranuclear Palsy, Progressive [MESH:D013494] (235)
 Huntington Disease [MESH:D006816] (540) 
 Huntington Disease-Like 1 [MESH:C566398] (98)
 Parkinsonian Disorders [MESH:D020734] (4009) 
 Lewy Body Disease [MESH:D020961] (1143) 
 Parkinson Disease 4, Autosomal Dominant Lewy Body [MESH:C565324] (136)
 Parkinson Disease [MESH:D010300] (3595) 
 Parkinson Disease 6, Autosomal Recessive Early-Onset [MESH:C565276] (42)
 Parkinson Disease 4, Autosomal Dominant Lewy Body [MESH:C565324] (136)
 Brain Damage, Chronic [MESH:D001925] (311) 
 Cerebral Palsy [MESH:D002547] (300) 
 Cerebral Palsy, Spastic Quadriplegic, 1 [MESH:C567853] (99)
 Brain Diseases, Metabolic [MESH:D001928] (3351) 
 Hepatic Encephalopathy [MESH:D006501] (1795)
 Brain Diseases, Metabolic, Inborn [MESH:D020739] (2634) 
 Hepatolenticular Degeneration [MESH:D006527] (473)
 Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497) 
 Adrenoleukodystrophy [MESH:D000326] (1348)
 Leukodystrophy, Globoid Cell [MESH:D007965] (65) 
 Krabbe Disease, Atypical, due to Saposin A Deficiency [MESH:C567097] (56)
 Leukodystrophy, Metachromatic [MESH:D007966] (76) 
 Metachromatic Leukodystrophy due to Saposin B Deficiency [MESH:C562609] (56)
 Combined Saposin Deficiency [MESH:C567125] (56)
 Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636) 
 Sphingolipidoses [MESH:D013106] (582) 
 Fabry Disease [MESH:D000795] (56)
 Gaucher Disease [MESH:D005776] (299) 
 Gaucher Disease, Atypical, Due To Saposin C Deficiency [MESH:C566435] (56)
 Leukodystrophy, Globoid Cell [MESH:D007965] (65) 
 Krabbe Disease, Atypical, due to Saposin A Deficiency [MESH:C567097] (56)
 Sulfatidosis [MESH:D052516] (86) 
 Leukodystrophy, Metachromatic [MESH:D007966] (76) 
 Metachromatic Leukodystrophy due to Saposin B Deficiency [MESH:C562609] (56)
 Combined Saposin Deficiency [MESH:C567125] (56)
 Peroxisomal Disorders [MESH:D018901] (1472) 
 Adrenoleukodystrophy [MESH:D000326] (1348)
 Refsum Disease [MESH:D012035] (173) 
 Neuropathy, hereditary motor and sensory, LOM type [MESH:C535716] (131)
 Brain Neoplasms [MESH:D001932] (2764) 
 Turcot syndrome [MESH:C536928] (159)
 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) 
 Joubert syndrome 5 [MESH:C537688] (20)
 Cerebellar Ataxia [MESH:D002524] (542) 
 Spinocerebellar Ataxias [MESH:D020754] (406) 
 Ataxia Telangiectasia [MESH:D001260] (142)
 Cerebrovascular Disorders [MESH:D002561] (5542) 
 Intracranial Arteriovenous Malformations [MESH:D002538] (1015)
 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) 
 Fabry Disease [MESH:D000795] (56)
 Intracranial Arterial Diseases [MESH:D020765] (2463) 
 Cerebral Arterial Diseases [MESH:D002539] (2440) 
 Infarction, Middle Cerebral Artery [MESH:D020244] (2268)
 Intracranial Embolism and Thrombosis [MESH:D002542] (490) 
 Intracranial Thrombosis [MESH:D020767] (481) 
 Sinus Thrombosis, Intracranial [MESH:D012851] (356)
 Intracranial Hemorrhages [MESH:D020300] (3269) 
 Cerebral Hemorrhage [MESH:D002543] (2873)
 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) 
 Creutzfeldt-Jakob Syndrome [MESH:D007562] (118)
 Alzheimer Disease [MESH:D000544] (4275) 
 Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia [MESH:C564330] (56)
 Frontotemporal Lobar Degeneration [MESH:D057174] (310) 
 Frontotemporal Dementia [MESH:D057180] (300) 
 Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia [MESH:C563476] (57)
 Pick Disease of the Brain [MESH:D020774] (184)
 Huntington Disease [MESH:D006816] (540) 
 Huntington Disease-Like 1 [MESH:C566398] (98)
 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, Partial [MESH:D004828] (1267) 
 Epilepsy, Temporal Lobe [MESH:D004833] (1108)
 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)
 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) 
 Pituitary Neoplasms [MESH:D010911] (981)
 Hyperpituitarism [MESH:D006964] (1250) 
 Hyperprolactinemia [MESH:D006966] (603)
 Hypopituitarism [MESH:D007018] (732) 
 Dwarfism, Pituitary [MESH:D004393] (235) 
 Short Stature, Idiopathic, Autosomal [MESH:C565805] (194)
 Leukoencephalopathies [MESH:D056784] (1916) 
 Demyelinating Autoimmune Diseases, CNS [MESH:D020278] (822) 
 Encephalomyelitis, Autoimmune, Experimental [MESH:D004681] (806)
 Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497) 
 Adrenoleukodystrophy [MESH:D000326] (1348)
 Leukodystrophy, Globoid Cell [MESH:D007965] (65) 
 Krabbe Disease, Atypical, due to Saposin A Deficiency [MESH:C567097] (56)
 Leukodystrophy, Metachromatic [MESH:D007966] (76) 
 Metachromatic Leukodystrophy due to Saposin B Deficiency [MESH:C562609] (56)
 Combined Saposin Deficiency [MESH:C567125] (56)
 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) 
 Encephalitis [MESH:D004660] (226) 
 Encephalitis, Viral [MESH:D018792] (183) 
 Encephalitis, Herpes Simplex [MESH:D020803] (72)
 Meningitis, Viral [MESH:D008587] (1308) 
 Meningitis, Aseptic [MESH:D008582] (1305)
 Encephalitis [MESH:D004660] (351) 
 Encephalitis, Viral [MESH:D018792] (183) 
 Encephalitis, Herpes Simplex [MESH:D020803] (72)
 Meningitis [MESH:D008581] (1506) 
 Meningitis, Aseptic [MESH:D008582] (1305)
 Meningitis, Viral [MESH:D008587] (1308) 
 Meningitis, Aseptic [MESH:D008582] (1305)
 Meningoencephalitis [MESH:D008590] (207) 
 Uveomeningoencephalitic Syndrome [MESH:D014607] (39)
 Prion Diseases [MESH:D017096] (488) 
 Spongiform Encephalopathy with Neuropsychiatric Features [MESH:C564678] (98)
 Creutzfeldt-Jakob Syndrome [MESH:D007562] (118)
 Gerstmann-Straussler-Scheinker Disease [MESH:D016098] (98)
 Insomnia, Fatal Familial [MESH:D034062] (98)
 Scrapie [MESH:D012608] (462)
 Movement Disorders [MESH:D009069] (4823) 
 Hepatolenticular Degeneration [MESH:D006527] (473)
 Supranuclear Palsy, Progressive [MESH:D013494] (235)
 Dyskinesias [MESH:D020820] (1827) 
 Dyskinesia, Drug-Induced [MESH:D004409] (1389)
 Chorea [MESH:D002819] (651) 
 Huntington Disease [MESH:D006816] (540) 
 Huntington Disease-Like 1 [MESH:C566398] (98)
 Dystonic Disorders [MESH:D020821] (729) 
 Dystonia 12 [MESH:C538001] (36)
 Parkinsonian Disorders [MESH:D020734] (4009) 
 Lewy Body Disease [MESH:D020961] (1143) 
 Parkinson Disease 4, Autosomal Dominant Lewy Body [MESH:C565324] (136)
 Parkinson Disease [MESH:D010300] (3595) 
 Parkinson Disease 6, Autosomal Recessive Early-Onset [MESH:C565276] (42)
 Parkinson Disease 4, Autosomal Dominant Lewy Body [MESH:C565324] (136)
 Ocular Motility Disorders [MESH:D015835] (364) 
 Joubert syndrome 5 [MESH:C537688] (20)
 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 IIB [MESH:C567084] (219)
 Cranial Nerve Diseases [MESH:D003389] (2004) 
 Ocular Motility Disorders [MESH:D015835] (1697) 
 Joubert syndrome 5 [MESH:C537688] (20)
 Ophthalmoplegia [MESH:D009886] (1468) 
 Supranuclear Palsy, Progressive [MESH:D013494] (235)
 Ophthalmoplegia, Chronic Progressive External [MESH:D017246] (1311) 
 Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 [MESH:C567768] (50)
 Ophthalmoplegia, Chronic Progressive External [MESH:D017246] (1313) 
 Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 [MESH:C567768] (50)
 Optic Nerve Diseases [MESH:D009901] (1375) 
 Optic Neuropathy, Ischemic [MESH:D018917] (50)
 Optic Atrophy [MESH:D009896] (1203) 
 Optic Atrophies, Hereditary [MESH:D015418] (1151) 
 Senior-Loken Syndrome 6 [MESH:C565708] (20)
 Optic Neuritis [MESH:D009902] (273) 
 Neuromyelitis Optica [MESH:D009471] (248)
 Demyelinating Diseases [MESH:D003711] (2917) 
 Demyelinating Autoimmune Diseases, CNS [MESH:D020278] (2035) 
 Encephalomyelitis, Autoimmune, Experimental [MESH:D004681] (806)
 Neuromyelitis Optica [MESH:D009471] (248)
 Multiple Sclerosis [MESH:D009103] (1716) 
 Neuromyelitis Optica [MESH:D009471] (248)
 Myelitis, Transverse [MESH:D009188] (255) 
 Neuromyelitis Optica [MESH:D009471] (248)
 Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497) 
 Adrenoleukodystrophy [MESH:D000326] (1348)
 Leukodystrophy, Globoid Cell [MESH:D007965] (65) 
 Krabbe Disease, Atypical, due to Saposin A Deficiency [MESH:C567097] (56)
 Leukodystrophy, Metachromatic [MESH:D007966] (76) 
 Metachromatic Leukodystrophy due to Saposin B Deficiency [MESH:C562609] (56)
 Combined Saposin Deficiency [MESH:C567125] (56)
 Nervous System Malformations [MESH:D009421] (3354) 
 Agenesis of Corpus Callosum [MESH:D061085] (345) 
 Holoprosencephaly [MESH:D016142] (218)
 Central Nervous System Vascular Malformations [MESH:D020785] (1031) 
 Hemangioma, Cavernous, Central Nervous System [MESH:D020786] (35)
 Intracranial Arteriovenous Malformations [MESH:D002538] (1015)
 Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899) 
 Charcot-Marie-Tooth Disease [MESH:D002607] (627) 
 Charcot-Marie-Tooth disease, Type 4E [MESH:C535301] (121)
 Charcot-Marie-Tooth disease, Type 2F [MESH:C535413] (219)
 Charcot-Marie-Tooth disease, Type 2I [MESH:C535416] (22)
 Charcot-Marie-Tooth disease, Type 2J [MESH:C535417] (22)
 Neuropathy, hereditary motor and sensory, LOM type [MESH:C535716] (131)
 Charcot-Marie-Tooth disease, Type 1D [MESH:C537985] (108)
 Charcot-Marie-Tooth disease, Type 2B1 [MESH:C537990] (77)
 Charcot-Marie-Tooth Disease, Dominant Intermediate D [MESH:C564333] (22)
 Charcot-Marie-Tooth Disease, Dominant Intermediate B [MESH:C564703] (27)
 Refsum Disease [MESH:D012035] (173) 
 Neuropathy, hereditary motor and sensory, LOM type [MESH:C535716] (131)
 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) 
 Meningomyelocele [MESH:D008591] (100)
 Spinal Dysraphism [MESH:D016135] (1025)
 Anencephaly [MESH:D000757] (120) 
 Neural tube defect, folate-sensitive [MESH:C536409] (111)
 Encephalocele [MESH:D004677] (151) 
 Meckel Syndrome, Type 4 [MESH:C567003] (20)
 Nervous System Neoplasms [MESH:D009423] (3073) 
 Melanoma astrocytoma syndrome [MESH:C536149] (159)
 Central Nervous System Neoplasms [MESH:D016543] (3055) 
 Brain Neoplasms [MESH:D001932] (2764) 
 Turcot syndrome [MESH:C536928] (159)
 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) 
 Meningioma, familial [MESH:C537443] (195)
 Peripheral Nervous System Neoplasms [MESH:D010524] (287) 
 Nerve Sheath Neoplasms [MESH:D018317] (286)
 Neurocutaneous Syndromes [MESH:D020752] (1230) 
 Ataxia Telangiectasia [MESH:D001260] (142)
 von Hippel-Lindau Disease [MESH:D006623] (580)
 Neurodegenerative Diseases [MESH:D019636] (6613) 
 Heredodegenerative Disorders, Nervous System [MESH:D020271] (3243) 
 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease [MESH:C563789] (17)
 Spongiform Encephalopathy with Neuropsychiatric Features [MESH:C564678] (98)
 Gerstmann-Straussler-Scheinker Disease [MESH:D016098] (98)
 Hepatolenticular Degeneration [MESH:D006527] (473)
 Rett Syndrome [MESH:D015518] (143)
 Cockayne Syndrome [MESH:D003057] (107) 
 XFE Progeroid Syndrome [MESH:C567043] (38)
 Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899) 
 Charcot-Marie-Tooth Disease [MESH:D002607] (627) 
 Charcot-Marie-Tooth disease, Type 4E [MESH:C535301] (121)
 Charcot-Marie-Tooth disease, Type 2F [MESH:C535413] (219)
 Charcot-Marie-Tooth disease, Type 2I [MESH:C535416] (22)
 Charcot-Marie-Tooth disease, Type 2J [MESH:C535417] (22)
 Neuropathy, hereditary motor and sensory, LOM type [MESH:C535716] (131)
 Charcot-Marie-Tooth disease, Type 1D [MESH:C537985] (108)
 Charcot-Marie-Tooth disease, Type 2B1 [MESH:C537990] (77)
 Charcot-Marie-Tooth Disease, Dominant Intermediate D [MESH:C564333] (22)
 Charcot-Marie-Tooth Disease, Dominant Intermediate B [MESH:C564703] (27)
 Refsum Disease [MESH:D012035] (173) 
 Neuropathy, hereditary motor and sensory, LOM type [MESH:C535716] (131)
 Huntington Disease [MESH:D006816] (540) 
 Huntington Disease-Like 1 [MESH:C566398] (98)
 Neuronal Ceroid-Lipofuscinoses [MESH:D009472] (1026) 
 Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)
 Ceroid Lipofuscinosis, Neuronal, 10 [MESH:C566438] (159)
 Ceroid Lipofuscinosis, Neuronal, 6 [MESH:C566627] (20)
 Optic Atrophies, Hereditary [MESH:D015418] (1151) 
 Senior-Loken Syndrome 6 [MESH:C565708] (20)
 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 IIB [MESH:C567084] (219)
 Parkinson Disease [MESH:D010300] (3595) 
 Parkinson Disease 6, Autosomal Recessive Early-Onset [MESH:C565276] (42)
 Parkinson Disease 4, Autosomal Dominant Lewy Body [MESH:C565324] (136)
 Prion Diseases [MESH:D017096] (475) 
 Spongiform Encephalopathy with Neuropsychiatric Features [MESH:C564678] (98)
 Gerstmann-Straussler-Scheinker Disease [MESH:D016098] (98)
 Insomnia, Fatal Familial [MESH:D034062] (98)
 Scrapie [MESH:D012608] (462)
 Tauopathies [MESH:D024801] (4289) 
 Supranuclear Palsy, Progressive [MESH:D013494] (235)
 Alzheimer Disease [MESH:D000544] (4275) 
 Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia [MESH:C564330] (56)
 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) 
 Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia [MESH:C563476] (57)
 Neurologic Manifestations [MESH:D009461] (8964) 
 Meningism [MESH:D008580] (43)
 Neurogenic Inflammation [MESH:D020078] (2246)
 Seizures [MESH:D012640] (4514)
 Dyskinesias [MESH:D020820] (3365) 
 Dystonia [MESH:D004421] (848)
 Hyperkinesis [MESH:D006948] (1799)
 Ataxia [MESH:D001259] (1138) 
 Ataxia with vitamin E deficiency [MESH:C535393] (271)
 Fragile X Tremor Ataxia Syndrome [MESH:C564105] (25)
 Cerebellar Ataxia [MESH:D002524] (542) 
 Spinocerebellar Ataxias [MESH:D020754] (406) 
 Ataxia Telangiectasia [MESH:D001260] (142)
 Tremor [MESH:D014202] (840) 
 Fragile X Tremor Ataxia Syndrome [MESH:C564105] (25)
 Neurobehavioral Manifestations [MESH:D019954] (5230) 
 Communication Disorders [MESH:D003147] (2918) 
 Learning Disorders [MESH:D007859] (2727)
 Language Disorders [MESH:D007806] (653) 
 Language Development Disorders [MESH:D007805] (351)
 Speech Disorders [MESH:D013064] (482) 
 Aphasia [MESH:D001037] (219)
 Consciousness Disorders [MESH:D003244] (680) 
 Unconsciousness [MESH:D014474] (660) 
 Coma [MESH:D003128] (524)
 Memory Disorders [MESH:D008569] (3233) 
 Amnesia [MESH:D000647] (1911)
 Intellectual Disability [MESH:D008607] (3054) 
 Epileptic encephalopathy, Lennox-Gastaut type [MESH:C535500] (70)
 Pitt-Hopkins syndrome [MESH:C537403] (113)
 Cerebrooculofacioskeletal Syndrome 2 [MESH:C565185] (48)
 De Lange Syndrome [MESH:D003635] (55)
 Down Syndrome [MESH:D004314] (1287)
 WAGR Syndrome [MESH:D017624] (270)
 Mental Retardation, X-Linked [MESH:D038901] (1854) 
 Mental Retardation, X-Linked, Syndromic, Jarid1c-Related [MESH:C564494] (6)
 Adrenoleukodystrophy [MESH:D000326] (1348)
 Rett Syndrome [MESH:D015518] (143)
 Fragile X Syndrome [MESH:D005600] (353) 
 Fragile X Tremor Ataxia Syndrome [MESH:C564105] (25)
 Psychomotor Disorders [MESH:D011596] (576) 
 Apraxias [MESH:D001072] (118) 
 Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia [MESH:C564330] (56)
 Neuromuscular Manifestations [MESH:D020879] (2130) 
 Muscle Weakness [MESH:D018908] (478)
 Muscular Atrophy [MESH:D009133] (1234)
 Muscle Hypertonia [MESH:D009122] (775) 
 Muscle Rigidity [MESH:D009127] (617) 
 Hyperexplexia hereditary [MESH:C538136] (80)
 Muscle Hypotonia [MESH:D009123] (258) 
 Joubert syndrome 5 [MESH:C537688] (20)
 Pain [MESH:D010146] (3875) 
 Headache [MESH:D006261] (1416)
 Pain, Intractable [MESH:D010148] (707)
 Neuralgia [MESH:D009437] (2074) 
 Neuralgia, Postherpetic [MESH:D051474] (742)
 Paralysis [MESH:D010243] (2043) 
 Hemiplegia [MESH:D006429] (184) 
 Alternating hemiplegia of childhood [MESH:C536589] (70)
 Ophthalmoplegia [MESH:D009886] (1468) 
 Supranuclear Palsy, Progressive [MESH:D013494] (235)
 Ophthalmoplegia, Chronic Progressive External [MESH:D017246] (1311) 
 Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 [MESH:C567768] (50)
 Paresis [MESH:D010291] (419) 
 Paraparesis [MESH:D020335] (77) 
 Paraparesis, Spastic [MESH:D020336] (70) 
 Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia [MESH:C564330] (56)
 Sensation Disorders [MESH:D012678] (5011) 
 Taste Disorders [MESH:D013651] (461)
 Hearing Disorders [MESH:D006311] (2103) 
 Tinnitus [MESH:D014012] (109)
 Hearing Loss [MESH:D034381] (2068) 
 Hearing Loss, Bilateral [MESH:D006312] (55)
 Hearing Loss, Sudden [MESH:D003639] (56)
 Deafness [MESH:D003638] (623) 
 Yemenite deaf-blind hypopigmentation syndrome [MESH:C536771] (17)
 Hearing Loss, Sensorineural [MESH:D006319] (1227) 
 Charcot-Marie-Tooth disease, Type 2J [MESH:C535417] (22)
 Griscelli syndrome type 1 [MESH:C537301] (42)
 Somatosensory Disorders [MESH:D020886] (4000) 
 Hyperalgesia [MESH:D006930] (3929)
 Hypesthesia [MESH:D006987] (58)
 Paresthesia [MESH:D010292] (416)
 Vision Disorders [MESH:D014786] (501) 
 Blindness [MESH:D001766] (252) 
 Yemenite deaf-blind hypopigmentation syndrome [MESH:C536771] (17)
 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 IIB [MESH:C567084] (219)
 Muscular Atrophy, Spinal [MESH:D009134] (377) 
 Neuronopathy, Distal Hereditary Motor, Type IIB [MESH:C567084] (219)
 Muscular Diseases [MESH:D009135] (3538) 
 Alpha-B Crystallinopathy [MESH:C563848] (135)
 Myopathies, Structural, Congenital [MESH:D020914] (272)
 Muscular Disorders, Atrophic [MESH:D020966] (1594) 
 Muscular Dystrophies [MESH:D009136] (1589) 
 Muscular Dystrophy, Congenital, Lmna-Related [MESH:C567708] (77)
 Muscular Dystrophy, Duchenne [MESH:D020388] (942)
 Muscular Dystrophy, Emery-Dreifuss [MESH:D020389] (169)
 Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854)
 Muscular Dystrophies, Limb-Girdle [MESH:D049288] (259) 
 Limb-girdle muscular dystrophy, type 1B [MESH:C535898] (77)
 Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia [MESH:C563476] (57)
 Mitochondrial Myopathies [MESH:D017240] (2176) 
 Ophthalmoplegia, Chronic Progressive External [MESH:D017246] (1313) 
 Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 [MESH:C567768] (50)
 Myositis [MESH:D009220] (2069) 
 Dermatomyositis [MESH:D003882] (1826)
 Myositis, Inclusion Body [MESH:D018979] (103) 
 Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia [MESH:C563476] (57)
 Polymyositis [MESH:D017285] (2007) 
 Dermatomyositis [MESH:D003882] (1826)
 Neuromuscular Junction Diseases [MESH:D020511] (712) 
 Myasthenia Gravis [MESH:D009157] (632)
 Myasthenic Syndromes, Congenital [MESH:D020294] (155) 
 Congenital myasthenic syndrome ib [MESH:C536089] (46)
 Peripheral Nervous System Diseases [MESH:D010523] (6151) 
 Diabetic Neuropathies [MESH:D003929] (2442)
 Neuralgia [MESH:D009437] (2078) 
 Neuralgia, Postherpetic [MESH:D051474] (742)
 Peripheral Nervous System Neoplasms [MESH:D010524] (287) 
 Nerve Sheath Neoplasms [MESH:D018317] (286)
 Polyneuropathies [MESH:D011115] (1134) 
 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease [MESH:C563789] (17)
 Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899) 
 Charcot-Marie-Tooth Disease [MESH:D002607] (627) 
 Charcot-Marie-Tooth disease, Type 4E [MESH:C535301] (121)
 Charcot-Marie-Tooth disease, Type 2F [MESH:C535413] (219)
 Charcot-Marie-Tooth disease, Type 2I [MESH:C535416] (22)
 Charcot-Marie-Tooth disease, Type 2J [MESH:C535417] (22)
 Neuropathy, hereditary motor and sensory, LOM type [MESH:C535716] (131)
 Charcot-Marie-Tooth disease, Type 1D [MESH:C537985] (108)
 Charcot-Marie-Tooth disease, Type 2B1 [MESH:C537990] (77)
 Charcot-Marie-Tooth Disease, Dominant Intermediate D [MESH:C564333] (22)
 Charcot-Marie-Tooth Disease, Dominant Intermediate B [MESH:C564703] (27)
 Refsum Disease [MESH:D012035] (173) 
 Neuropathy, hereditary motor and sensory, LOM type [MESH:C535716] (131)
 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 Disorders, Intrinsic [MESH:D020919] (1270) 
 Sleep Initiation and Maintenance Disorders [MESH:D007319] (354) 
 Insomnia, Fatal Familial [MESH:D034062] (98)
 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) 
 Eyelid Diseases [MESH:D005141] (882)
 Conjunctival Diseases [MESH:D003229] (273) 
 Pterygium [MESH:D011625] (44)
 Corneal Diseases [MESH:D003316] (1445) 
 Corneal Neovascularization [MESH:D016510] (622)
 Eye Abnormalities [MESH:D005124] (1233) 
 Aniridia [MESH:D015783] (312) 
 WAGR Syndrome [MESH:D017624] (270)
 Eye Diseases, Hereditary [MESH:D015785] (1869) 
 Retinitis Pigmentosa [MESH:D012174] (414)
 Graves Ophthalmopathy [MESH:D049970] (165)
 Albinism [MESH:D000417] (258) 
 Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)
 Albinism, Oculocutaneous [MESH:D016115] (234) 
 Hermanski-Pudlak Syndrome [MESH:D022861] (82) 
 Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)
 Aniridia [MESH:D015783] (312) 
 WAGR Syndrome [MESH:D017624] (270)
 Leber Congenital Amaurosis [MESH:D057130] (157) 
 Senior-Loken Syndrome 6 [MESH:C565708] (20)
 Leber Congenital Amaurosis 10 [MESH:C565720] (20)
 Optic Atrophies, Hereditary [MESH:D015418] (1151) 
 Senior-Loken Syndrome 6 [MESH:C565708] (20)
 Eye Neoplasms [MESH:D005134] (413) 
 Retinal Neoplasms [MESH:D019572] (320) 
 Retinoblastoma [MESH:D012175] (319)
 Lens Diseases [MESH:D007905] (900) 
 Cataract [MESH:D002386] (860) 
 Alpha-B Crystallinopathy [MESH:C563848] (135)
 Cerebrooculofacioskeletal Syndrome 2 [MESH:C565185] (48)
 Ocular Hypertension [MESH:D009798] (1630) 
 Glaucoma [MESH:D005901] (1458) 
 Glaucoma, Open-Angle [MESH:D005902] (1281)
 Ocular Motility Disorders [MESH:D015835] (1699) 
 Joubert syndrome 5 [MESH:C537688] (20)
 Ophthalmoplegia [MESH:D009886] (1468) 
 Supranuclear Palsy, Progressive [MESH:D013494] (235)
 Ophthalmoplegia, Chronic Progressive External [MESH:D017246] (1311) 
 Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 [MESH:C567768] (50)
 Ophthalmoplegia, Chronic Progressive External [MESH:D017246] (1313) 
 Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 [MESH:C567768] (50)
 Optic Nerve Diseases [MESH:D009901] (1377) 
 Optic Neuropathy, Ischemic [MESH:D018917] (50)
 Optic Atrophy [MESH:D009896] (1203) 
 Optic Atrophies, Hereditary [MESH:D015418] (1151) 
 Senior-Loken Syndrome 6 [MESH:C565708] (20)
 Optic Neuritis [MESH:D009902] (273) 
 Neuromyelitis Optica [MESH:D009471] (248)
 Orbital Diseases [MESH:D009916] (317) 
 Exophthalmos [MESH:D005094] (297) 
 Graves Disease [MESH:D006111] (278) 
 Graves Ophthalmopathy [MESH:D049970] (165)
 Retinal Diseases [MESH:D012164] (3747) 
 Diabetic Retinopathy [MESH:D003930] (1371)
 Retinal Detachment [MESH:D012163] (1639)
 Retinal Vein Occlusion [MESH:D012170] (607)
 Leber Congenital Amaurosis [MESH:D057130] (157) 
 Senior-Loken Syndrome 6 [MESH:C565708] (20)
 Leber Congenital Amaurosis 10 [MESH:C565720] (20)
 Retinal Degeneration [MESH:D012162] (2386) 
 Macular Degeneration [MESH:D008268] (995) 
 Macular Degeneration, Age-Related, 3 [MESH:C563838] (35)
 Macular Degeneration, Age-Related, 10 [MESH:C566935] (162)
 Macular Edema [MESH:D008269] (557)
 Retinal Dystrophies [MESH:D058499] (1315) 
 Retinitis Pigmentosa [MESH:D012174] (1307)
 Retinal Neoplasms [MESH:D019572] (320) 
 Retinoblastoma [MESH:D012175] (319)
 Uveal Diseases [MESH:D014603] (2428) 
 Choroid Diseases [MESH:D015862] (595) 
 Choroidal Neovascularization [MESH:D020256] (550)
 Iris Diseases [MESH:D007499] (348) 
 Aniridia [MESH:D015783] (312) 
 WAGR Syndrome [MESH:D017624] (270)
 Uveitis [MESH:D014605] (2157) 
 Uveomeningoencephalitic Syndrome [MESH:D014607] (39)
 Panuveitis [MESH:D015864] (1805) 
 Uveitis, Anterior [MESH:D014606] (1791) 
 Behcet Syndrome [MESH:D001528] (1784)
 Vision Disorders [MESH:D014786] (534) 
 Blindness [MESH:D001766] (259) 
 Yemenite deaf-blind hypopigmentation syndrome [MESH:C536771] (17)
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)
 Prostatic Neoplasms [MESH:D011471] (6135)
 Testicular Neoplasms [MESH:D013736] (520) 
 Testicular Germ Cell Tumor [MESH:C563236] (176)
 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 Neoplasms [MESH:D010412] (890)
 Hypospadias [MESH:D007021] (798) 
 Pseudovaginal Perineoscrotal Hypospadias [MESH:C535830] (59)
 Prostatic Diseases [MESH:D011469] (6204) 
 Prostatic Hyperplasia [MESH:D011470] (336)
 Prostatic Neoplasms [MESH:D011471] (6135)
 Prostatitis [MESH:D011472] (424)
 Sexual Dysfunction, Physiological [MESH:D012735] (1808) 
 Erectile Dysfunction [MESH:D007172] (1791)
 Sexually Transmitted Diseases [MESH:D012749] (1712) 
 Sexually Transmitted Diseases, Bacterial [MESH:D015231] (1711) 
 Chlamydia Infections [MESH:D002690] (1693)
 Testicular Diseases [MESH:D013733] (451) 
 Cryptorchidism [MESH:D003456] (215)
 Urogenital Abnormalities [MESH:D014564] (2065) 
 Allanson Pantzar McLeod syndrome [MESH:C537048] (503)
 Cryptorchidism [MESH:D003456] (215)
 Disorders of Sex Development [MESH:D012734] (1637) 
 46, XX Disorders of Sex Development [MESH:D058489] (644) 
 Cortisone reductase deficiency [MESH:C536447] (136)
 Aromatase deficiency [MESH:C537436] (277)
 46, XY Disorders of Sex Development [MESH:D058490] (1060) 
 Pseudovaginal Perineoscrotal Hypospadias [MESH:C535830] (59)
 Denys-Drash Syndrome [MESH:D030321] (57)
 Frasier Syndrome [MESH:D052159] (57)
 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)
 Hypospadias [MESH:D007021] (798) 
 Pseudovaginal Perineoscrotal Hypospadias [MESH:C535830] (59)
 Urogenital Neoplasms [MESH:D014565] (6932) 
 Genital Neoplasms, Male [MESH:D005834] (6224) 
 Penile Neoplasms [MESH:D010412] (890)
 Prostatic Neoplasms [MESH:D011471] (6135)
 Testicular Neoplasms [MESH:D013736] (520) 
 Testicular Germ Cell Tumor [MESH:C563236] (176)
 Urologic Neoplasms [MESH:D014571] (5315) 
 Ureteral Neoplasms [MESH:D014516] (574)
 Urinary Bladder Neoplasms [MESH:D001749] (4079)
 Kidney Neoplasms [MESH:D007680] (3966) 
 Oncocytoma, renal [MESH:C537750] (35)
 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) 
 Kidney Diseases [MESH:D007674] (7242) 
 Joubert syndrome 5 [MESH:C537688] (20)
 Diabetic Nephropathies [MESH:D003928] (2301)
 Hepatorenal Syndrome [MESH:D006530] (910)
 Hydronephrosis [MESH:D006869] (956)
 Hyperoxaluria [MESH:D006959] (1498)
 Kidney Diseases, Cystic [MESH:D052177] (1009) 
 Senior-Loken Syndrome 6 [MESH:C565708] (20)
 Polycystic Kidney Diseases [MESH:D007690] (853) 
 Meckel Syndrome, Type 4 [MESH:C567003] (20)
 Polycystic Kidney, Autosomal Dominant [MESH:D016891] (522) 
 Medullary cystic kidney disease 1 [MESH:C536137] (61)
 Kidney Neoplasms [MESH:D007680] (3966) 
 Oncocytoma, renal [MESH:C537750] (35)
 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)
 Glomerulosclerosis, Focal Segmental [MESH:D005923] (1754)
 Lupus Nephritis [MESH:D008181] (602)
 Nephritis, Interstitial [MESH:D009395] (1927) 
 Balkan Nephropathy [MESH:D001449] (772)
 Nephrolithiasis [MESH:D053040] (492) 
 Kidney Calculi [MESH:D007669] (455)
 Nephrosis [MESH:D009401] (2228) 
 Nephrotic Syndrome [MESH:D009404] (1536)
 Renal Insufficiency [MESH:D051437] (4951) 
 Acute Kidney Injury [MESH:D058186] (4142) 
 Kidney Tubular Necrosis, Acute [MESH:D007683] (974)
 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 4, Renal [MESH:C567127] (225)
 Pseudohypoaldosteronism [MESH:D011546] (232)
 Uremia [MESH:D014511] (2898) 
 Hemolytic-Uremic Syndrome [MESH:D006463] (2435) 
 Atypical hemolytic uremic syndrome [MESH:C538266] (277)
 Ureteral Diseases [MESH:D014515] (1024) 
 Ureteral Neoplasms [MESH:D014516] (574)
 Urethral Diseases [MESH:D014522] (955) 
 Urethral Obstruction [MESH:D014524] (937) 
 Urinary Bladder Neck Obstruction [MESH:D001748] (924)
 Urinary Bladder Diseases [MESH:D001745] (4374) 
 Urinary Bladder Neck Obstruction [MESH:D001748] (924)
 Urinary Bladder Neoplasms [MESH:D001749] (4079)
 Urinary Bladder, Overactive [MESH:D053201] (530)
 Urination Disorders [MESH:D014555] (3598) 
 Urinary Retention [MESH:D016055] (411)
 Proteinuria [MESH:D011507] (3293) 
 Albuminuria [MESH:D000419] (2394)
 Urolithiasis [MESH:D052878] (585) 
 Nephrolithiasis [MESH:D053040] (492) 
 Kidney Calculi [MESH:D007669] (455)
 Urinary Calculi [MESH:D014545] (521) 
 Kidney Calculi [MESH:D007669] (455)
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) 
 Chondrodysplasia, acromesomelic, with genital anomalies [MESH:C537913] (20)
 Primary Ovarian Insufficiency [MESH:D016649] (270)
 Ovarian Cysts [MESH:D010048] (2534) 
 Polycystic Ovary Syndrome [MESH:D011085] (2186)
 Ovarian Neoplasms [MESH:D010051] (3281) 
 Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)
 Infertility [MESH:D007246] (2211) 
 Infertility, Female [MESH:D007247] (2184)
 Sexually Transmitted Diseases [MESH:D012749] (1712) 
 Sexually Transmitted Diseases, Bacterial [MESH:D015231] (1711) 
 Chlamydia Infections [MESH:D002690] (1693)
 Uterine Diseases [MESH:D014591] (2479) 
 Uterine Cervical Diseases [MESH:D002577] (988) 
 Uterine Cervical Neoplasms [MESH:D002583] (978)
 Uterine Neoplasms [MESH:D014594] (2430) 
 Endometrial Neoplasms [MESH:D016889] (1984)
 Uterine Cervical Neoplasms [MESH:D002583] (978)
 Vaginal Diseases [MESH:D014623] (446) 
 Vaginal Neoplasms [MESH:D014625] (363)
 Vulvar Diseases [MESH:D014845] (873) 
 Vulvar Lichen Sclerosus [MESH:D007724] (825)
 Urogenital Abnormalities [MESH:D014564] (2043) 
 Allanson Pantzar McLeod syndrome [MESH:C537048] (503)
 Disorders of Sex Development [MESH:D012734] (1637) 
 46, XX Disorders of Sex Development [MESH:D058489] (644) 
 Cortisone reductase deficiency [MESH:C536447] (136)
 Aromatase deficiency [MESH:C537436] (277)
 46, XY Disorders of Sex Development [MESH:D058490] (1060) 
 Pseudovaginal Perineoscrotal Hypospadias [MESH:C535830] (59)
 Denys-Drash Syndrome [MESH:D030321] (57)
 Frasier Syndrome [MESH:D052159] (57)
 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)
 Hypospadias [MESH:D007021] (798) 
 Pseudovaginal Perineoscrotal Hypospadias [MESH:C535830] (59)
 Urogenital Neoplasms [MESH:D014565] (5792) 
 Genital Neoplasms, Female [MESH:D005833] (3810) 
 Vaginal Neoplasms [MESH:D014625] (363)
 Ovarian Neoplasms [MESH:D010051] (3281) 
 Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)
 Uterine Neoplasms [MESH:D014594] (2433) 
 Endometrial Neoplasms [MESH:D016889] (1989)
 Uterine Cervical Neoplasms [MESH:D002583] (978)
 Urologic Neoplasms [MESH:D014571] (5315) 
 Ureteral Neoplasms [MESH:D014516] (574)
 Urinary Bladder Neoplasms [MESH:D001749] (4079)
 Kidney Neoplasms [MESH:D007680] (3966) 
 Oncocytoma, renal [MESH:C537750] (35)
 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) 
 Kidney Diseases [MESH:D007674] (7242) 
 Joubert syndrome 5 [MESH:C537688] (20)
 Diabetic Nephropathies [MESH:D003928] (2301)
 Hepatorenal Syndrome [MESH:D006530] (910)
 Hydronephrosis [MESH:D006869] (956)
 Hyperoxaluria [MESH:D006959] (1498)
 Kidney Diseases, Cystic [MESH:D052177] (1009) 
 Senior-Loken Syndrome 6 [MESH:C565708] (20)
 Polycystic Kidney Diseases [MESH:D007690] (853) 
 Meckel Syndrome, Type 4 [MESH:C567003] (20)
 Polycystic Kidney, Autosomal Dominant [MESH:D016891] (522) 
 Medullary cystic kidney disease 1 [MESH:C536137] (61)
 Kidney Neoplasms [MESH:D007680] (3966) 
 Oncocytoma, renal [MESH:C537750] (35)
 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)
 Glomerulosclerosis, Focal Segmental [MESH:D005923] (1754)
 Lupus Nephritis [MESH:D008181] (602)
 Nephritis, Interstitial [MESH:D009395] (1927) 
 Balkan Nephropathy [MESH:D001449] (772)
 Nephrolithiasis [MESH:D053040] (492) 
 Kidney Calculi [MESH:D007669] (455)
 Nephrosis [MESH:D009401] (2228) 
 Nephrotic Syndrome [MESH:D009404] (1536)
 Renal Insufficiency [MESH:D051437] (4951) 
 Acute Kidney Injury [MESH:D058186] (4142) 
 Kidney Tubular Necrosis, Acute [MESH:D007683] (974)
 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 4, Renal [MESH:C567127] (225)
 Pseudohypoaldosteronism [MESH:D011546] (232)
 Uremia [MESH:D014511] (2898) 
 Hemolytic-Uremic Syndrome [MESH:D006463] (2435) 
 Atypical hemolytic uremic syndrome [MESH:C538266] (277)
 Ureteral Diseases [MESH:D014515] (1024) 
 Ureteral Neoplasms [MESH:D014516] (574)
 Urethral Diseases [MESH:D014522] (955) 
 Urethral Obstruction [MESH:D014524] (937) 
 Urinary Bladder Neck Obstruction [MESH:D001748] (924)
 Urinary Bladder Diseases [MESH:D001745] (4375) 
 Urinary Bladder Neck Obstruction [MESH:D001748] (924)
 Urinary Bladder Neoplasms [MESH:D001749] (4079)
 Urinary Bladder, Overactive [MESH:D053201] (530)
 Urination Disorders [MESH:D014555] (3598) 
 Urinary Retention [MESH:D016055] (411)
 Proteinuria [MESH:D011507] (3293) 
 Albuminuria [MESH:D000419] (2394)
 Urolithiasis [MESH:D052878] (585) 
 Nephrolithiasis [MESH:D053040] (492) 
 Kidney Calculi [MESH:D007669] (455)
 Urinary Calculi [MESH:D014545] (521) 
 Kidney Calculi [MESH:D007669] (455)
 Pregnancy Complications [MESH:D011248] (4768) 
 Intrahepatic Cholestasis of Pregnancy [MESH:C535932] (101)
 Diabetes, Gestational [MESH:D016640] (1157)
 Placenta Diseases [MESH:D010922] (1781)
 Pregnancy Complications, Cardiovascular [MESH:D011249] (1994)
 Abortion, Spontaneous [MESH:D000022] (2780) 
 Embryo Loss [MESH:D020964] (288)
 Fetal Diseases [MESH:D005315] (1206) 
 Fetal Growth Retardation [MESH:D005317] (986)
 Hypertension, Pregnancy-Induced [MESH:D046110] (1453) 
 Pre-Eclampsia [MESH:D011225] (1435)
 Obstetric Labor Complications [MESH:D007744] (1550) 
 Obstetric Labor, Premature [MESH:D007752] (1316) 
 Premature Birth [MESH:D047928] (118)
 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) 
 Pregnancy Complications, Cardiovascular [MESH:D011249] (1994)
 Cardiovascular Abnormalities [MESH:D018376] (3153) 
 Heart Defects, Congenital [MESH:D006330] (2447) 
 Cardiofaciocutaneous syndrome [MESH:C535579] (407)
 Heart-hand syndrome, Slovenian type [MESH:C535852] (77)
 Alagille Syndrome [MESH:D016738] (105)
 Heterotaxy Syndrome [MESH:D059446] (84)
 Marfan Syndrome [MESH:D008382] (646)
 22q11 Deletion Syndrome [MESH:D058165] (237) 
 DiGeorge Syndrome [MESH:D004062] (236)
 Heart Septal Defects [MESH:D006343] (385) 
 Heart Septal Defects, Ventricular [MESH:D006345] (160)
 Heart Septal Defects, Atrial [MESH:D006344] (209) 
 Rapadilino syndrome [MESH:C535288] (30)
 LEOPARD Syndrome [MESH:D044542] (299) 
 LEOPARD syndrome, 2 [MESH:C537117] (169)
 Noonan Syndrome [MESH:D009634] (506) 
 Noonan Syndrome 5 [MESH:C548083] (169)
 Vascular Malformations [MESH:D054079] (1098) 
 Arteriovenous Malformations [MESH:D001165] (1058) 
 Intracranial Arteriovenous Malformations [MESH:D002538] (1015)
 Central Nervous System Vascular Malformations [MESH:D020785] (1031) 
 Hemangioma, Cavernous, Central Nervous System [MESH:D020786] (35)
 Intracranial Arteriovenous Malformations [MESH:D002538] (1015)
 Heart Diseases [MESH:D006331] (8614) 
 Heart Failure [MESH:D006333] (4058)
 Pericardial Effusion [MESH:D010490] (1015)
 Arrhythmias, Cardiac [MESH:D001145] (4679) 
 Atrial Fibrillation [MESH:D001281] (1053)
 Bradycardia [MESH:D001919] (1899)
 Ventricular Fibrillation [MESH:D014693] (624)
 Heart Block [MESH:D006327] (571) 
 Sinoatrial Block [MESH:D012848] (95)
 Tachycardia [MESH:D013610] (3339) 
 Tachycardia, Ventricular [MESH:D017180] (1386) 
 Torsades de Pointes [MESH:D016171] (880)
 Cardiomegaly [MESH:D006332] (4081) 
 Hypertrophy, Left Ventricular [MESH:D017379] (1430)
 Cardiomyopathy, Dilated [MESH:D002311] (1576) 
 Cardiomyopathy, Dilated, 1t [MESH:C566052] (76)
 Cardiomyopathy, Dilated, 1u [MESH:C566296] (56)
 Cardiomyopathy, Dilated, 1y [MESH:C567507] (103)
 Cardiomyopathies [MESH:D009202] (5331) 
 Alpha-B Crystallinopathy [MESH:C563848] (135)
 Diabetic Cardiomyopathies [MESH:D058065] (1995)
 Myocardial Reperfusion Injury [MESH:D015428] (3500)
 Myocarditis [MESH:D009205] (1708)
 Cardiomyopathy, Dilated [MESH:D002311] (1576) 
 Cardiomyopathy, Dilated, 1t [MESH:C566052] (76)
 Cardiomyopathy, Dilated, 1u [MESH:C566296] (56)
 Cardiomyopathy, Dilated, 1y [MESH:C567507] (103)
 Cardiomyopathy, Hypertrophic [MESH:D002312] (1516) 
 Cardiomyopathy, Hypertrophic, Familial [MESH:D024741] (339) 
 Cardiomyopathy, Familial Hypertrophic, 3 [MESH:C566170] (103)
 Heart Arrest [MESH:D006323] (1926) 
 Death, Sudden, Cardiac [MESH:D016757] (168)
 Heart Defects, Congenital [MESH:D006330] (2443) 
 Cardiofaciocutaneous syndrome [MESH:C535579] (407)
 Heart-hand syndrome, Slovenian type [MESH:C535852] (77)
 Heterotaxy Syndrome [MESH:D059446] (84)
 Marfan Syndrome [MESH:D008382] (646)
 22q11 Deletion Syndrome [MESH:D058165] (237) 
 DiGeorge Syndrome [MESH:D004062] (236)
 Heart Septal Defects [MESH:D006343] (385) 
 Heart Septal Defects, Ventricular [MESH:D006345] (160)
 Heart Septal Defects, Atrial [MESH:D006344] (209) 
 Rapadilino syndrome [MESH:C535288] (30)
 LEOPARD Syndrome [MESH:D044542] (299) 
 LEOPARD syndrome, 2 [MESH:C537117] (169)
 Noonan Syndrome [MESH:D009634] (506) 
 Noonan Syndrome 5 [MESH:C548083] (169)
 Heart Valve Diseases [MESH:D006349] (3333) 
 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, Unstable [MESH:D000789] (782)
 Angina, Stable [MESH:D060050] (1702)
 Microvascular Angina [MESH:D017566] (44)
 Coronary Disease [MESH:D003327] (3439) 
 Coronary Artery Disease [MESH:D003324] (2685)
 Coronary Thrombosis [MESH:D003328] (255)
 Coronary Stenosis [MESH:D023921] (1806) 
 Coronary Restenosis [MESH:D023903] (1683)
 Myocardial Infarction [MESH:D009203] (4122) 
 Myocardial Stunning [MESH:D017682] (1816)
 Shock, Cardiogenic [MESH:D012770] (269)
 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) 
 Calcification of Joints and Arteries [MESH:C565891] (60)
 Angioedema [MESH:D000799] (837)
 Capillary Leak Syndrome [MESH:D019559] (18)
 Hyperemia [MESH:D006940] (2372)
 Hypertension [MESH:D006973] (5655)
 Optic Neuropathy, Ischemic [MESH:D018917] (50)
 Retinal Vein Occlusion [MESH:D012170] (607)
 Superior Vena Cava Syndrome [MESH:D013479] (64)
 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) 
 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) 
 Arteriosclerosis [MESH:D001161] (4466) 
 Atherosclerosis [MESH:D050197] (4188)
 Coronary Artery Disease [MESH:D003324] (2685)
 Arteriovenous Malformations [MESH:D001165] (1058) 
 Intracranial Arteriovenous Malformations [MESH:D002538] (1015)
 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) 
 Fabry Disease [MESH:D000795] (56)
 Intracranial Arterial Diseases [MESH:D020765] (2468) 
 Intracranial Arteriovenous Malformations [MESH:D002538] (1015)
 Cerebral Arterial Diseases [MESH:D002539] (2440) 
 Infarction, Middle Cerebral Artery [MESH:D020244] (2268)
 Intracranial Embolism and Thrombosis [MESH:D002542] (550) 
 Carotid Artery Thrombosis [MESH:D002341] (138)
 Intracranial Thrombosis [MESH:D020767] (481) 
 Sinus Thrombosis, Intracranial [MESH:D012851] (356)
 Intracranial Hemorrhages [MESH:D020300] (3269) 
 Cerebral Hemorrhage [MESH:D002543] (2873)
 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) 
 Intracranial Embolism and Thrombosis [MESH:D002542] (550) 
 Carotid Artery Thrombosis [MESH:D002341] (138)
 Intracranial Thrombosis [MESH:D020767] (481) 
 Sinus Thrombosis, Intracranial [MESH:D012851] (356)
 Thrombosis [MESH:D013927] (3101) 
 Coronary Thrombosis [MESH:D003328] (255)
 Thromboembolism [MESH:D013923] (732) 
 Intracranial Embolism and Thrombosis [MESH:D002542] (550) 
 Carotid Artery Thrombosis [MESH:D002341] (138)
 Intracranial Thrombosis [MESH:D020767] (481) 
 Sinus Thrombosis, Intracranial [MESH:D012851] (356)
 Venous Thrombosis [MESH:D020246] (1141) 
 Retinal Vein Occlusion [MESH:D012170] (607)
 Hemostatic Disorders [MESH:D020141] (2894) 
 Multiple Myeloma [MESH:D009101] (2765)
 Pseudoxanthoma Elasticum [MESH:D011561] (115)
 Waldenstrom Macroglobulinemia [MESH:D008258] (11)
 Hemangioma, Cavernous [MESH:D006392] (38) 
 Hemangioma, Cavernous, Central Nervous System [MESH:D020786] (35)
 Hypotension [MESH:D007022] (4045) 
 Hypotension, Orthostatic [MESH:D007024] (679)
 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, Unstable [MESH:D000789] (782)
 Angina, Stable [MESH:D060050] (1702)
 Microvascular Angina [MESH:D017566] (44)
 Coronary Disease [MESH:D003327] (3439) 
 Coronary Artery Disease [MESH:D003324] (2685)
 Coronary Thrombosis [MESH:D003328] (255)
 Coronary Stenosis [MESH:D023921] (1806) 
 Coronary Restenosis [MESH:D023903] (1683)
 Myocardial Infarction [MESH:D009203] (4151) 
 Myocardial Stunning [MESH:D017682] (1816)
 No-Reflow Phenomenon [MESH:D054318] (277)
 Shock, Cardiogenic [MESH:D012770] (269)
 Peripheral Vascular Diseases [MESH:D016491] (1412) 
 Raynaud Disease [MESH:D011928] (490)
 Reperfusion Injury [MESH:D015427] (4968) 
 Myocardial Reperfusion Injury [MESH:D015428] (3500)
 Telangiectasis [MESH:D013684] (255) 
 Ataxia Telangiectasia [MESH:D001260] (142)
 Vasculitis [MESH:D014657] (2604) 
 Behcet Syndrome [MESH:D001528] (1784)
 Mucocutaneous Lymph Node Syndrome [MESH:D009080] (158)
 Vasculitis, Leukocytoclastic, Cutaneous [MESH:D018366] (121)
C15. Hemic and Lymphatic Diseases 
C15. Hemic and Lymphatic Diseases
 Z. Exceptions (453) 
 Not Fully Specified [NFS] (453)
 Hematologic Diseases [MESH:D006402] (6174) 
 Methemoglobinemia [MESH:D008708] (850)
 Pancytopenia [MESH:D010198] (332)
 Thrombophilia [MESH:D019851] (592)
 Anemia [MESH:D000740] (3966) 
 Anemia, Refractory [MESH:D000753] (1567)
 Anemia, Sideroblastic [MESH:D000756] (636)
 Anemia, Aplastic [MESH:D000741] (1925) 
 Anemia, Hypoplastic, Congenital [MESH:D029502] (1665) 
 Anemia, Diamond-Blackfan [MESH:D029503] (158)
 Fanconi Anemia [MESH:D005199] (1604) 
 Fanconi Anemia, Complementation Group D1 [MESH:C563980] (68)
 Anemia, Hemolytic [MESH:D000743] (3083) 
 Favism [MESH:D005236] (193)
 Anemia, Hemolytic, Congenital [MESH:D000745] (2001) 
 Anemia, Hemolytic, Congenital Nonspherocytic [MESH:D000746] (308)
 Anemia, Sickle Cell [MESH:D000755] (1722)
 Glucosephosphate Dehydrogenase Deficiency [MESH:D005955] (196) 
 Favism [MESH:D005236] (193)
 Thalassemia [MESH:D013789] (501) 
 beta-Thalassemia [MESH:D017086] (458)
 Hemoglobinuria, Paroxysmal [MESH:D006457] (293) 
 Bone Marrow failure syndromes [MESH:C536572] (248)
 Hemolytic-Uremic Syndrome [MESH:D006463] (2435) 
 Atypical hemolytic uremic syndrome [MESH:C538266] (277)
 Red-Cell Aplasia, Pure [MESH:D012010] (183) 
 Anemia, Diamond-Blackfan [MESH:D029503] (158)
 Blood Coagulation Disorders [MESH:D001778] (1828) 
 Thrombocythemia, Essential [MESH:D013920] (707)
 Blood Coagulation Disorders, Inherited [MESH:D025861] (720) 
 Thrombasthenia [MESH:D013915] (98)
 Hermanski-Pudlak Syndrome [MESH:D022861] (82) 
 Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)
 von Willebrand Diseases [MESH:D014842] (75) 
 von Willebrand Disease, Type 1 [MESH:D056725] (67)
 von Willebrand Disease, Type 2 [MESH:D056728] (67)
 von Willebrand Disease, Type 3 [MESH:D056729] (67)
 Coagulation Protein Disorders [MESH:D020147] (580) 
 von Willebrand Diseases [MESH:D014842] (75) 
 von Willebrand Disease, Type 1 [MESH:D056725] (67)
 von Willebrand Disease, Type 2 [MESH:D056728] (67)
 von Willebrand Disease, Type 3 [MESH:D056729] (67)
 Platelet Storage Pool Deficiency [MESH:D010981] (84) 
 Hermanski-Pudlak Syndrome [MESH:D022861] (82) 
 Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)
 Blood Platelet Disorders [MESH:D001791] (3174) 
 Thrombasthenia [MESH:D013915] (98)
 Platelet Storage Pool Deficiency [MESH:D010981] (84) 
 Hermanski-Pudlak Syndrome [MESH:D022861] (82) 
 Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)
 Thrombocytopenia [MESH:D013921] (2966) 
 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia [MESH:C565328] (23)
 Thrombocytopenia, Neonatal Alloimmune [MESH:D054098] (79)
 Thrombotic Microangiopathies [MESH:D057049] (2598) 
 Hemolytic-Uremic Syndrome [MESH:D006463] (2435) 
 Atypical hemolytic uremic syndrome [MESH:C538266] (277)
 Thrombocytosis [MESH:D013922] (720) 
 Thrombocythemia, Essential [MESH:D013920] (707)
 Blood Protein Disorders [MESH:D001796] (3051) 
 Agammaglobulinemia [MESH:D000361] (156)
 Hypergammaglobulinemia [MESH:D006942] (137)
 Hypoproteinemia [MESH:D007019] (1335) 
 Hypoalbuminemia [MESH:D034141] (1332)
 Paraproteinemias [MESH:D010265] (2781) 
 Multiple Myeloma [MESH:D009101] (2765)
 Waldenstrom Macroglobulinemia [MESH:D008258] (11)
 Bone Marrow Diseases [MESH:D001855] (2944) 
 Anemia, Aplastic [MESH:D000741] (1925) 
 Anemia, Hypoplastic, Congenital [MESH:D029502] (1665) 
 Anemia, Diamond-Blackfan [MESH:D029503] (158)
 Fanconi Anemia [MESH:D005199] (1604) 
 Fanconi Anemia, Complementation Group D1 [MESH:C563980] (68)
 Myelodysplastic-Myeloproliferative Diseases [MESH:D054437] (376) 
 Leukemia, Myelomonocytic, Juvenile [MESH:D054429] (344)
 Myelodysplastic Syndromes [MESH:D009190] (2093) 
 Anemia, Refractory [MESH:D000753] (1567)
 Anemia, Sideroblastic [MESH:D000756] (636)
 Hemoglobinuria, Paroxysmal [MESH:D006457] (293) 
 Bone Marrow failure syndromes [MESH:C536572] (248)
 Myeloproliferative Disorders [MESH:D009196] (1492) 
 Myeloproliferative Disorder, Chronic, with Eosinophilia [MESH:C565054] (134)
 Leukemia, Myelogenous, Chronic, BCR-ABL Positive [MESH:D015464] (1032)
 Polycythemia Vera [MESH:D011087] (244)
 Thrombocytosis [MESH:D013922] (720) 
 Thrombocythemia, Essential [MESH:D013920] (707)
 Hemoglobinopathies [MESH:D006453] (1863) 
 Anemia, Sickle Cell [MESH:D000755] (1722)
 Thalassemia [MESH:D013789] (511) 
 beta-Thalassemia [MESH:D017086] (458)
 Hemorrhagic Disorders [MESH:D006474] (3359) 
 Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)
 Plasminogen Activator Inhibitor-1 Deficiency [MESH:C567640] (328)
 Thrombasthenia [MESH:D013915] (98)
 Thrombocythemia, Essential [MESH:D013920] (707)
 Hemostatic Disorders [MESH:D020141] (2932) 
 Multiple Myeloma [MESH:D009101] (2765)
 Pseudoxanthoma Elasticum [MESH:D011561] (115)
 Waldenstrom Macroglobulinemia [MESH:D008258] (11)
 Hemangioma, Cavernous [MESH:D006392] (38) 
 Hemangioma, Cavernous, Central Nervous System [MESH:D020786] (35)
 Platelet Storage Pool Deficiency [MESH:D010981] (84) 
 Hermanski-Pudlak Syndrome [MESH:D022861] (82) 
 Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)
 von Willebrand Diseases [MESH:D014842] (75) 
 von Willebrand Disease, Type 1 [MESH:D056725] (67)
 von Willebrand Disease, Type 2 [MESH:D056728] (67)
 von Willebrand Disease, Type 3 [MESH:D056729] (67)
 Leukocyte Disorders [MESH:D007960] (2662) 
 Leukostasis [MESH:D018921] (769)
 Eosinophilia [MESH:D004802] (537) 
 Myeloproliferative Disorder, Chronic, with Eosinophilia [MESH:C565054] (134)
 Leukocytosis [MESH:D007964] (988) 
 Lymphocytosis [MESH:D008218] (9)
 Leukopenia [MESH:D007970] (1921) 
 Lymphopenia [MESH:D008231] (990)
 Agranulocytosis [MESH:D000380] (1675) 
 Neutropenia [MESH:D009503] (1629)
 Phagocyte Bactericidal Dysfunction [MESH:D010585] (998) 
 Granulomatous Disease, Chronic [MESH:D006105] (404) 
 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative [MESH:C565533] (111)
 Job Syndrome [MESH:D007589] (772) 
 Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant [MESH:C567925] (283)
 Lymphatic Diseases [MESH:D008206] (5167) 
 Mucocutaneous Lymph Node Syndrome [MESH:D009080] (158)
 Thymus Neoplasms [MESH:D013953] (247)
 Histiocytosis [MESH:D015614] (336) 
 Histiocytosis, Non-Langerhans-Cell [MESH:D015616] (315) 
 Lymphohistiocytosis, Hemophagocytic [MESH:D051359] (76) 
 Hemophagocytic lymphohistiocytosis, familial, 2 [MESH:C537250] (38)
 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)
 Giant Lymph Node Hyperplasia [MESH:D005871] (1013)
 Sarcoidosis [MESH:D012507] (895)
 Tumor Lysis Syndrome [MESH:D015275] (48)
 Waldenstrom Macroglobulinemia [MESH:D008258] (11)
 Leukemia, Lymphoid [MESH:D007945] (3047) 
 Leukemia, B-Cell [MESH:D015448] (2564) 
 Leukemia, Lymphocytic, Chronic, B-Cell [MESH:D015451] (2562)
 Leukemia, Prolymphocytic [MESH:D015463] (4) 
 Leukemia, Prolymphocytic, T-Cell [MESH:D015461] (2)
 Leukemia, T-Cell [MESH:D015458] (395) 
 Leukemia-Lymphoma, Adult T-Cell [MESH:D015459] (138)
 Leukemia, Prolymphocytic, T-Cell [MESH:D015461] (2)
 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)
 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, Large-Cell, Anaplastic [MESH:D017728] (420)
 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, Primary Effusion [MESH:D054685] (2)
 Lymphoma, T-Cell [MESH:D016399] (1204) 
 Lymphoma, T-Cell, Cutaneous [MESH:D016410] (912)
 Splenic Diseases [MESH:D013158] (1323) 
 Heterotaxy Syndrome [MESH:D059446] (84)
 Hypersplenism [MESH:D006971] (341)
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, Drug-Induced [MESH:D000014] (1024)
 Abnormalities, Multiple [MESH:D000015] (3192) 
 Yemenite deaf-blind hypopigmentation syndrome [MESH:C536771] (17)
 Insulin-Like Growth Factor I, Resistance To [MESH:C564816] (141)
 Alagille Syndrome [MESH:D016738] (105)
 Bardet-Biedl Syndrome [MESH:D020788] (110)
 Costello Syndrome [MESH:D056685] (407)
 De Lange Syndrome [MESH:D003635] (55)
 Down Syndrome [MESH:D004314] (1287)
 Heterotaxy Syndrome [MESH:D059446] (84)
 Holoprosencephaly [MESH:D016142] (218)
 Marfan Syndrome [MESH:D008382] (646)
 22q11 Deletion Syndrome [MESH:D058165] (237) 
 DiGeorge Syndrome [MESH:D004062] (236)
 Cockayne Syndrome [MESH:D003057] (107) 
 XFE Progeroid Syndrome [MESH:C567043] (38)
 Ectodermal Dysplasia [MESH:D004476] (938) 
 Cardiofaciocutaneous syndrome [MESH:C535579] (407)
 Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant [MESH:C567411] (533)
 Ectodermal Dysplasia 3, Anhidrotic [MESH:D053359] (10)
 Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive [MESH:D053360] (10)
 LEOPARD Syndrome [MESH:D044542] (299) 
 LEOPARD syndrome, 2 [MESH:C537117] (169)
 Waardenburg Syndrome [MESH:D014849] (243) 
 Waardenburg syndrome type 2 [MESH:C536463] (55)
 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease [MESH:C563789] (17)
 Waardenburg Syndrome, Type 4c [MESH:C567679] (17)
 Abnormalities, Severe Teratoid [MESH:D009008] (124) 
 Anencephaly [MESH:D000757] (120) 
 Neural tube defect, folate-sensitive [MESH:C536409] (111)
 Cardiovascular Abnormalities [MESH:D018376] (3294) 
 Heart Defects, Congenital [MESH:D006330] (2611) 
 Cardiofaciocutaneous syndrome [MESH:C535579] (407)
 Heart-hand syndrome, Slovenian type [MESH:C535852] (77)
 Alagille Syndrome [MESH:D016738] (105)
 Heterotaxy Syndrome [MESH:D059446] (84)
 Marfan Syndrome [MESH:D008382] (646)
 22q11 Deletion Syndrome [MESH:D058165] (237) 
 DiGeorge Syndrome [MESH:D004062] (236)
 Heart Septal Defects [MESH:D006343] (385) 
 Heart Septal Defects, Ventricular [MESH:D006345] (160)
 Heart Septal Defects, Atrial [MESH:D006344] (209) 
 Rapadilino syndrome [MESH:C535288] (30)
 LEOPARD Syndrome [MESH:D044542] (299) 
 LEOPARD syndrome, 2 [MESH:C537117] (169)
 Noonan Syndrome [MESH:D009634] (506) 
 Noonan Syndrome 5 [MESH:C548083] (169)
 Vascular Malformations [MESH:D054079] (1108) 
 Arteriovenous Malformations [MESH:D001165] (1058) 
 Intracranial Arteriovenous Malformations [MESH:D002538] (1015)
 Central Nervous System Vascular Malformations [MESH:D020785] (1018) 
 Intracranial Arteriovenous Malformations [MESH:D002538] (1015)
 Chromosome Disorders [MESH:D025063] (2030) 
 De Lange Syndrome [MESH:D003635] (55)
 Down Syndrome [MESH:D004314] (1287)
 Holoprosencephaly [MESH:D016142] (218)
 WAGR Syndrome [MESH:D017624] (270)
 22q11 Deletion Syndrome [MESH:D058165] (237) 
 DiGeorge Syndrome [MESH:D004062] (236)
 Sex Chromosome Disorders [MESH:D025064] (479) 
 Fragile X Syndrome [MESH:D005600] (353) 
 Fragile X Tremor Ataxia Syndrome [MESH:C564105] (25)
 Digestive System Abnormalities [MESH:D004065] (507) 
 Hirschsprung Disease [MESH:D006627] (361) 
 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease [MESH:C563789] (17)
 Waardenburg Syndrome, Type 4c [MESH:C567679] (17)
 Eye Abnormalities [MESH:D005124] (1233) 
 Aniridia [MESH:D015783] (312) 
 WAGR Syndrome [MESH:D017624] (270)
 Lymphatic Abnormalities [MESH:D044148] (251) 
 22q11 Deletion Syndrome [MESH:D058165] (237) 
 DiGeorge Syndrome [MESH:D004062] (236)
 Musculoskeletal Abnormalities [MESH:D009139] (3779) 
 Hajdu-Cheney Syndrome [MESH:D031845] (42)
 Arthrogryposis [MESH:D001176] (329) 
 Cerebrooculofacioskeletal Syndrome 2 [MESH:C565185] (48)
 Craniofacial Abnormalities [MESH:D019465] (3064) 
 LIG4 Syndrome [MESH:C564694] (24)
 Cerebrooculofacioskeletal Syndrome 2 [MESH:C565185] (48)
 Cleidocranial Dysplasia [MESH:D002973] (129)
 Holoprosencephaly [MESH:D016142] (218)
 Microcephaly [MESH:D008831] (700)
 22q11 Deletion Syndrome [MESH:D058165] (237) 
 DiGeorge Syndrome [MESH:D004062] (236)
 Craniosynostoses [MESH:D003398] (438) 
 Craniosynostosis radial aplasia syndrome [MESH:C536788] (30)
 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) 
 Orofacial Cleft 1 [MESH:C566121] (81)
 Orofacial Cleft 10 [MESH:C566605] (39)
 Micrognathism [MESH:D008844] (230) 
 Meier-Gorlin syndrome [MESH:C538012] (133)
 Noonan Syndrome [MESH:D009634] (506) 
 Noonan Syndrome 5 [MESH:C548083] (169)
 Plagiocephaly [MESH:D059041] (440) 
 Craniosynostoses [MESH:D003398] (438) 
 Craniosynostosis radial aplasia syndrome [MESH:C536788] (30)
 Limb Deformities, Congenital [MESH:D017880] (1813) 
 Rapadilino syndrome [MESH:C535288] (30)
 Chondrodysplasia, acromesomelic, with genital anomalies [MESH:C537913] (20)
 Metaphyseal Anadysplasia 2 [MESH:C567771] (452)
 Brachydactyly [MESH:D059327] (220) 
 Brachydactyly type A2 [MESH:C537089] (28)
 Foot Deformities, Congenital [MESH:D005532] (538) 
 Trichorhinophalangeal Syndrome, Type III [MESH:C566033] (24)
 Clubfoot [MESH:D003025] (79)
 Hand Deformities, Congenital [MESH:D006228] (587) 
 Heart-hand syndrome, Slovenian type [MESH:C535852] (77)
 Trichorhinophalangeal Syndrome, Type III [MESH:C566033] (24)
 Polydactyly [MESH:D017689] (318) 
 Meckel Syndrome, Type 4 [MESH:C567003] (20)
 Synostosis [MESH:D013580] (817) 
 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia [MESH:C565328] (23)
 Craniosynostoses [MESH:D003398] (438) 
 Craniosynostosis radial aplasia syndrome [MESH:C536788] (30)
 Nervous System Malformations [MESH:D009421] (3354) 
 Holoprosencephaly [MESH:D016142] (218)
 Agenesis of Corpus Callosum [MESH:D061085] (345) 
 Holoprosencephaly [MESH:D016142] (218)
 Central Nervous System Vascular Malformations [MESH:D020785] (1031) 
 Hemangioma, Cavernous, Central Nervous System [MESH:D020786] (35)
 Intracranial Arteriovenous Malformations [MESH:D002538] (1015)
 Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899) 
 Charcot-Marie-Tooth Disease [MESH:D002607] (627) 
 Charcot-Marie-Tooth disease, Type 4E [MESH:C535301] (121)
 Charcot-Marie-Tooth disease, Type 2F [MESH:C535413] (219)
 Charcot-Marie-Tooth disease, Type 2I [MESH:C535416] (22)
 Charcot-Marie-Tooth disease, Type 2J [MESH:C535417] (22)
 Neuropathy, hereditary motor and sensory, LOM type [MESH:C535716] (131)
 Charcot-Marie-Tooth disease, Type 1D [MESH:C537985] (108)
 Charcot-Marie-Tooth disease, Type 2B1 [MESH:C537990] (77)
 Charcot-Marie-Tooth Disease, Dominant Intermediate D [MESH:C564333] (22)
 Charcot-Marie-Tooth Disease, Dominant Intermediate B [MESH:C564703] (27)
 Refsum Disease [MESH:D012035] (173) 
 Neuropathy, hereditary motor and sensory, LOM type [MESH:C535716] (131)
 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) 
 Meningomyelocele [MESH:D008591] (100)
 Spinal Dysraphism [MESH:D016135] (1025)
 Anencephaly [MESH:D000757] (120) 
 Neural tube defect, folate-sensitive [MESH:C536409] (111)
 Encephalocele [MESH:D004677] (151) 
 Meckel Syndrome, Type 4 [MESH:C567003] (20)
 Skin Abnormalities [MESH:D012868] (1723) 
 Tight skin contracture syndrome, lethal [MESH:C536920] (84)
 Pseudoxanthoma Elasticum [MESH:D011561] (115)
 Ectodermal Dysplasia [MESH:D004476] (958) 
 Cardiofaciocutaneous syndrome [MESH:C535579] (407)
 Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant [MESH:C567411] (533)
 Ectodermal Dysplasia 3, Anhidrotic [MESH:D053359] (10)
 Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive [MESH:D053360] (10)
 Ichthyosis [MESH:D007057] (481) 
 Ichthyosis, X-Linked [MESH:D016114] (91)
 Ichthyosiform Erythroderma, Congenital [MESH:D016113] (238) 
 Hyperkeratosis, Epidermolytic [MESH:D017488] (136)
 Rothmund-Thomson Syndrome [MESH:D011038] (35) 
 Rapadilino syndrome [MESH:C535288] (30)
 Xeroderma Pigmentosum [MESH:D014983] (213) 
 Xeroderma Pigmentosum, Complementation Group B [MESH:C562590] (31)
 Xeroderma Pigmentosum, Complementation Group D [MESH:C562591] (48)
 Xeroderma Pigmentosum, Complementation Group F [MESH:C562592] (38)
 XFE Progeroid Syndrome [MESH:C567043] (38)
 Stomatognathic System Abnormalities [MESH:D018640] (1705) 
 Tooth Abnormalities [MESH:D014071] (622)
 Maxillofacial Abnormalities [MESH:D019767] (1447) 
 Jaw Abnormalities [MESH:D007569] (1438) 
 Cleft Palate [MESH:D002972] (1330) 
 Orofacial Cleft 1 [MESH:C566121] (81)
 Orofacial Cleft 10 [MESH:C566605] (39)
 Micrognathism [MESH:D008844] (230) 
 Meier-Gorlin syndrome [MESH:C538012] (133)
 Mouth Abnormalities [MESH:D009056] (1383) 
 Cleft Lip [MESH:D002971] (914) 
 Orofacial Cleft 1 [MESH:C566121] (81)
 Orofacial Cleft 10 [MESH:C566605] (39)
 Cleft Palate [MESH:D002972] (1330) 
 Orofacial Cleft 1 [MESH:C566121] (81)
 Orofacial Cleft 10 [MESH:C566605] (39)
 Urogenital Abnormalities [MESH:D014564] (2064) 
 Allanson Pantzar McLeod syndrome [MESH:C537048] (503)
 Cryptorchidism [MESH:D003456] (215)
 Disorders of Sex Development [MESH:D012734] (1637) 
 46, XX Disorders of Sex Development [MESH:D058489] (644) 
 Cortisone reductase deficiency [MESH:C536447] (136)
 Aromatase deficiency [MESH:C537436] (277)
 46, XY Disorders of Sex Development [MESH:D058490] (1060) 
 Pseudovaginal Perineoscrotal Hypospadias [MESH:C535830] (59)
 Denys-Drash Syndrome [MESH:D030321] (57)
 Frasier Syndrome [MESH:D052159] (57)
 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)
 Hypospadias [MESH:D007021] (798) 
 Pseudovaginal Perineoscrotal Hypospadias [MESH:C535830] (59)
 Fetal Diseases [MESH:D005315] (1205) 
 Fetal Growth Retardation [MESH:D005317] (986)
 Genetic Diseases, Inborn [MESH:D030342] (9766) 
 Alagille Syndrome [MESH:D016738] (105)
 Ataxia Telangiectasia [MESH:D001260] (142)
 Autoimmune Lymphoproliferative Syndrome [MESH:D056735] (704)
 Costello Syndrome [MESH:D056685] (407)
 Frasier Syndrome [MESH:D052159] (57)
 Hajdu-Cheney Syndrome [MESH:D031845] (42)
 Marfan Syndrome [MESH:D008382] (646)
 Werner Syndrome [MESH:D014898] (88)
 Anemia, Hemolytic, Congenital [MESH:D000745] (2001) 
 Anemia, Hemolytic, Congenital Nonspherocytic [MESH:D000746] (308)
 Anemia, Sickle Cell [MESH:D000755] (1722)
 Glucosephosphate Dehydrogenase Deficiency [MESH:D005955] (196) 
 Favism [MESH:D005236] (193)
 Thalassemia [MESH:D013789] (501) 
 beta-Thalassemia [MESH:D017086] (458)
 Anemia, Hypoplastic, Congenital [MESH:D029502] (1665) 
 Anemia, Diamond-Blackfan [MESH:D029503] (158)
 Fanconi Anemia [MESH:D005199] (1604) 
 Fanconi Anemia, Complementation Group D1 [MESH:C563980] (68)
 Blood Coagulation Disorders, Inherited [MESH:D025861] (722) 
 Thrombasthenia [MESH:D013915] (98)
 Hermanski-Pudlak Syndrome [MESH:D022861] (82) 
 Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)
 von Willebrand Diseases [MESH:D014842] (75) 
 von Willebrand Disease, Type 1 [MESH:D056725] (67)
 von Willebrand Disease, Type 2 [MESH:D056728] (67)
 von Willebrand Disease, Type 3 [MESH:D056729] (67)
 Cardiomyopathy, Hypertrophic, Familial [MESH:D024741] (339) 
 Cardiomyopathy, Familial Hypertrophic, 3 [MESH:C566170] (103)
 Chromosome Disorders [MESH:D025063] (2030) 
 De Lange Syndrome [MESH:D003635] (55)
 Down Syndrome [MESH:D004314] (1287)
 Holoprosencephaly [MESH:D016142] (218)
 WAGR Syndrome [MESH:D017624] (270)
 22q11 Deletion Syndrome [MESH:D058165] (237) 
 DiGeorge Syndrome [MESH:D004062] (236)
 Sex Chromosome Disorders [MESH:D025064] (479) 
 Fragile X Syndrome [MESH:D005600] (353) 
 Fragile X Tremor Ataxia Syndrome [MESH:C564105] (25)
 Dwarfism [MESH:D004392] (783) 
 Rapadilino syndrome [MESH:C535288] (30)
 Laron Syndrome [MESH:D046150] (91)
 Cockayne Syndrome [MESH:D003057] (107) 
 XFE Progeroid Syndrome [MESH:C567043] (38)
 Eye Diseases, Hereditary [MESH:D015785] (1867) 
 Retinitis Pigmentosa [MESH:D012174] (442)
 Albinism [MESH:D000417] (359) 
 Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)
 Albinism, Oculocutaneous [MESH:D016115] (234) 
 Hermanski-Pudlak Syndrome [MESH:D022861] (82) 
 Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)
 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) 
 Senior-Loken Syndrome 6 [MESH:C565708] (20)
 Genetic Diseases, X-Linked [MESH:D040181] (3028) 
 Fabry Disease [MESH:D000795] (56)
 Ichthyosis, X-Linked [MESH:D016114] (91)
 Muscular Dystrophy, Duchenne [MESH:D020388] (942)
 Muscular Dystrophy, Emery-Dreifuss [MESH:D020389] (169)
 Granulomatous Disease, Chronic [MESH:D006105] (404) 
 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative [MESH:C565533] (111)
 Mental Retardation, X-Linked [MESH:D038901] (1867) 
 Mental Retardation, X-Linked, Syndromic, Jarid1c-Related [MESH:C564494] (6)
 Adrenoleukodystrophy [MESH:D000326] (1348)
 Classical Lissencephalies and Subcortical Band Heterotopias [MESH:D054221] (114)
 Rett Syndrome [MESH:D015518] (143)
 Fragile X Syndrome [MESH:D005600] (353) 
 Fragile X Tremor Ataxia Syndrome [MESH:C564105] (25)
 Hemoglobinopathies [MESH:D006453] (1863) 
 Anemia, Sickle Cell [MESH:D000755] (1722)
 Thalassemia [MESH:D013789] (511) 
 beta-Thalassemia [MESH:D017086] (458)
 Hereditary Autoinflammatory Diseases [MESH:D056660] (272) 
 Cryopyrin-Associated Periodic Syndromes [MESH:D056587] (102) 
 Familial Cold Autoinflammatory Syndrome 2 [MESH:C567090] (11)
 Heredodegenerative Disorders, Nervous System [MESH:D020271] (3465) 
 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease [MESH:C563789] (17)
 Spongiform Encephalopathy with Neuropsychiatric Features [MESH:C564678] (98)
 Gerstmann-Straussler-Scheinker Disease [MESH:D016098] (98)
 Hepatolenticular Degeneration [MESH:D006527] (473)
 Rett Syndrome [MESH:D015518] (143)
 Cockayne Syndrome [MESH:D003057] (107) 
 XFE Progeroid Syndrome [MESH:C567043] (38)
 Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899) 
 Charcot-Marie-Tooth Disease [MESH:D002607] (627) 
 Charcot-Marie-Tooth disease, Type 4E [MESH:C535301] (121)
 Charcot-Marie-Tooth disease, Type 2F [MESH:C535413] (219)
 Charcot-Marie-Tooth disease, Type 2I [MESH:C535416] (22)
 Charcot-Marie-Tooth disease, Type 2J [MESH:C535417] (22)
 Neuropathy, hereditary motor and sensory, LOM type [MESH:C535716] (131)
 Charcot-Marie-Tooth disease, Type 1D [MESH:C537985] (108)
 Charcot-Marie-Tooth disease, Type 2B1 [MESH:C537990] (77)
 Charcot-Marie-Tooth Disease, Dominant Intermediate D [MESH:C564333] (22)
 Charcot-Marie-Tooth Disease, Dominant Intermediate B [MESH:C564703] (27)
 Refsum Disease [MESH:D012035] (173) 
 Neuropathy, hereditary motor and sensory, LOM type [MESH:C535716] (131)
 Huntington Disease [MESH:D006816] (540) 
 Huntington Disease-Like 1 [MESH:C566398] (98)
 Mental Retardation, X-Linked [MESH:D038901] (1848) 
 Mental Retardation, X-Linked, Syndromic, Jarid1c-Related [MESH:C564494] (6)
 Adrenoleukodystrophy [MESH:D000326] (1348)
 Rett Syndrome [MESH:D015518] (143)
 Fragile X Syndrome [MESH:D005600] (353) 
 Fragile X Tremor Ataxia Syndrome [MESH:C564105] (25)
 Neuronal Ceroid-Lipofuscinoses [MESH:D009472] (1026) 
 Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)
 Ceroid Lipofuscinosis, Neuronal, 10 [MESH:C566438] (159)
 Ceroid Lipofuscinosis, Neuronal, 6 [MESH:C566627] (20)
 Optic Atrophies, Hereditary [MESH:D015418] (1151) 
 Senior-Loken Syndrome 6 [MESH:C565708] (20)
 Metabolism, Inborn Errors [MESH:D008661] (6032) 
 Trimethylaminuria [MESH:C536561] (61)
 Aromatase deficiency [MESH:C537436] (277)
 Coumarin Resistance [MESH:C563039] (397)
 Drug Metabolism, Poor, CYP2C19-Related [MESH:C563703] (182)
 Drug Metabolism, Poor, CYP2D6-Related [MESH:C563835] (220)
 Methylcobalamin Deficiency, CblG Type [MESH:C565394] (49)
 Hypoproteinemia, Hypercatabolic [MESH:C565476] (99)
 Progeria [MESH:D011371] (105)
 Amino Acid Metabolism, Inborn Errors [MESH:D000592] (2565) 
 succinic semialdehyde dehydrogenase deficiency [MESH:C535803] (42)
 Alpha-ketoglutarate dehydrogenase deficiency [MESH:C536582] (59)
 Methylmalonic acidemia [MESH:C537358] (764)
 Hyperhomocysteinemia [MESH:D020138] (1724)
 Albinism [MESH:D000417] (359) 
 Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)
 Albinism, Oculocutaneous [MESH:D016115] (234) 
 Hermanski-Pudlak Syndrome [MESH:D022861] (82) 
 Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)
 Piebaldism [MESH:D016116] (167) 
 Griscelli syndrome type 1 [MESH:C537301] (42)
 Brain Diseases, Metabolic, Inborn [MESH:D020739] (2634) 
 Hepatolenticular Degeneration [MESH:D006527] (473)
 Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497) 
 Adrenoleukodystrophy [MESH:D000326] (1348)
 Leukodystrophy, Globoid Cell [MESH:D007965] (65) 
 Krabbe Disease, Atypical, due to Saposin A Deficiency [MESH:C567097] (56)
 Leukodystrophy, Metachromatic [MESH:D007966] (76) 
 Metachromatic Leukodystrophy due to Saposin B Deficiency [MESH:C562609] (56)
 Combined Saposin Deficiency [MESH:C567125] (56)
 Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636) 
 Sphingolipidoses [MESH:D013106] (582) 
 Fabry Disease [MESH:D000795] (56)
 Gaucher Disease [MESH:D005776] (299) 
 Gaucher Disease, Atypical, Due To Saposin C Deficiency [MESH:C566435] (56)
 Leukodystrophy, Globoid Cell [MESH:D007965] (65) 
 Krabbe Disease, Atypical, due to Saposin A Deficiency [MESH:C567097] (56)
 Sulfatidosis [MESH:D052516] (86) 
 Leukodystrophy, Metachromatic [MESH:D007966] (76) 
 Metachromatic Leukodystrophy due to Saposin B Deficiency [MESH:C562609] (56)
 Combined Saposin Deficiency [MESH:C567125] (56)
 Peroxisomal Disorders [MESH:D018901] (1472) 
 Adrenoleukodystrophy [MESH:D000326] (1348)
 Refsum Disease [MESH:D012035] (173) 
 Neuropathy, hereditary motor and sensory, LOM type [MESH:C535716] (131)
 Carbohydrate Metabolism, Inborn Errors [MESH:D002239] (1100) 
 Glucosephosphate Dehydrogenase Deficiency [MESH:D005955] (195)
 Glycogen Storage Disease [MESH:D006008] (530) 
 Glycogen Storage Disease IXB [MESH:C563008] (16)
 Glycogen Storage Disease Type V [MESH:D006012] (165)
 Mucopolysaccharidoses [MESH:D009083] (164) 
 Mucopolysaccharidosis III [MESH:D009084] (43)
 Hyperbilirubinemia, Hereditary [MESH:D006933] (476) 
 Jaundice, Chronic Idiopathic [MESH:D007566] (287)
 Lipid Metabolism, Inborn Errors [MESH:D008052] (2071) 
 Lipase deficiency combined [MESH:C535904] (16)
 Hyperlipidemia, Familial Combined [MESH:D006950] (372)
 Hyperlipoproteinemia Type II [MESH:D006938] (707)
 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, 6 [MESH:C566627] (20)
 Sphingolipidoses [MESH:D013106] (582) 
 Fabry Disease [MESH:D000795] (56)
 Gaucher Disease [MESH:D005776] (299) 
 Gaucher Disease, Atypical, Due To Saposin C Deficiency [MESH:C566435] (56)
 Leukodystrophy, Globoid Cell [MESH:D007965] (65) 
 Krabbe Disease, Atypical, due to Saposin A Deficiency [MESH:C567097] (56)
 Sulfatidosis [MESH:D052516] (86) 
 Leukodystrophy, Metachromatic [MESH:D007966] (76) 
 Metachromatic Leukodystrophy due to Saposin B Deficiency [MESH:C562609] (56)
 Combined Saposin Deficiency [MESH:C567125] (56)
 Lysosomal Storage Diseases [MESH:D016464] (761) 
 Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636) 
 Sphingolipidoses [MESH:D013106] (582) 
 Fabry Disease [MESH:D000795] (56)
 Gaucher Disease [MESH:D005776] (299) 
 Gaucher Disease, Atypical, Due To Saposin C Deficiency [MESH:C566435] (56)
 Leukodystrophy, Globoid Cell [MESH:D007965] (65) 
 Krabbe Disease, Atypical, due to Saposin A Deficiency [MESH:C567097] (56)
 Sulfatidosis [MESH:D052516] (86) 
 Leukodystrophy, Metachromatic [MESH:D007966] (76) 
 Metachromatic Leukodystrophy due to Saposin B Deficiency [MESH:C562609] (56)
 Combined Saposin Deficiency [MESH:C567125] (56)
 Mucopolysaccharidoses [MESH:D009083] (164) 
 Mucopolysaccharidosis III [MESH:D009084] (43)
 Metal Metabolism, Inborn Errors [MESH:D008664] (2017) 
 Molybdenum cofactor deficiency [MESH:C535811] (57)
 Hemochromatosis [MESH:D006432] (1694)
 Hepatolenticular Degeneration [MESH:D006527] (473)
 Peroxisomal Disorders [MESH:D018901] (1788) 
 Adrenoleukodystrophy [MESH:D000326] (1348)
 Refsum Disease [MESH:D012035] (173) 
 Neuropathy, hereditary motor and sensory, LOM type [MESH:C535716] (131)
 Porphyrias [MESH:D011164] (917) 
 Porphyrias, Hepatic [MESH:D017094] (881) 
 Porphyria Cutanea Tarda [MESH:D017119] (766)
 Purine-Pyrimidine Metabolism, Inborn Errors [MESH:D011686] (496) 
 Dihydropyrimidine Dehydrogenase Deficiency [MESH:D054067] (88)
 Renal Tubular Transport, Inborn Errors [MESH:D015499] (1027) 
 Hypomagnesemia 4, Renal [MESH:C567127] (225)
 Pseudohypoaldosteronism [MESH:D011546] (232)
 Steroid Metabolism, Inborn Errors [MESH:D043202] (962) 
 Pseudovaginal Perineoscrotal Hypospadias [MESH:C535830] (59)
 Cortisone reductase deficiency [MESH:C536447] (136)
 Ichthyosis, X-Linked [MESH:D016114] (91)
 Muscular Dystrophies [MESH:D009136] (1597) 
 Muscular Dystrophy, Congenital, Lmna-Related [MESH:C567708] (77)
 Muscular Dystrophy, Duchenne [MESH:D020388] (942)
 Muscular Dystrophy, Emery-Dreifuss [MESH:D020389] (169)
 Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854)
 Muscular Dystrophies, Limb-Girdle [MESH:D049288] (259) 
 Limb-girdle muscular dystrophy, type 1B [MESH:C535898] (77)
 Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia [MESH:C563476] (57)
 Myasthenic Syndromes, Congenital [MESH:D020294] (155) 
 Congenital myasthenic syndrome ib [MESH:C536089] (46)
 Neoplastic Syndromes, Hereditary [MESH:D009386] (2578) 
 Hemangioma, capillary infantile [MESH:C535860] (190)
 Turcot syndrome [MESH:C536928] (159)
 Meningioma, familial [MESH:C537443] (195)
 Melanoma-Pancreatic Cancer Syndrome [MESH:C563985] (159)
 Birt-Hogg-Dube Syndrome [MESH:D058249] (35)
 Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (260)
 Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)
 Li-Fraumeni Syndrome [MESH:D016864] (859)
 Adenomatous Polyposis Coli [MESH:D011125] (1565) 
 Colorectal Adenomatous Polyposis, Autosomal Recessive [MESH:C563924] (28)
 Exostoses, Multiple Hereditary [MESH:D005097] (154) 
 Metachondromatosis [MESH:C562938] (49)
 Multiple Endocrine Neoplasia [MESH:D009377] (375) 
 Multiple Endocrine Neoplasia, Type IV [MESH:C567059] (297)
 Wilms Tumor [MESH:D009396] (553) 
 Denys-Drash Syndrome [MESH:D030321] (57)
 WAGR Syndrome [MESH:D017624] (270)
 Skin Diseases, Genetic [MESH:D012873] (3456) 
 Ichthyosis, X-Linked [MESH:D016114] (91)
 Pseudoxanthoma Elasticum [MESH:D011561] (115)
 Albinism [MESH:D000417] (359) 
 Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)
 Albinism, Oculocutaneous [MESH:D016115] (234) 
 Hermanski-Pudlak Syndrome [MESH:D022861] (82) 
 Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)
 Piebaldism [MESH:D016116] (167) 
 Griscelli syndrome type 1 [MESH:C537301] (42)
 Cutis Laxa [MESH:D003483] (177) 
 Cutis laxa, recessive [MESH:C536225] (35)
 Dermatitis, Atopic [MESH:D003876] (2052) 
 Dermatitis, Atopic, 4 [MESH:C565291] (130)
 Ectodermal Dysplasia [MESH:D004476] (958) 
 Cardiofaciocutaneous syndrome [MESH:C535579] (407)
 Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant [MESH:C567411] (533)
 Ectodermal Dysplasia 3, Anhidrotic [MESH:D053359] (10)
 Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive [MESH:D053360] (10)
 Ichthyosiform Erythroderma, Congenital [MESH:D016113] (238) 
 Hyperkeratosis, Epidermolytic [MESH:D017488] (136)
 Porphyrias, Hepatic [MESH:D017094] (881) 
 Porphyria Cutanea Tarda [MESH:D017119] (766)
 Rothmund-Thomson Syndrome [MESH:D011038] (35) 
 Rapadilino syndrome [MESH:C535288] (30)
 Xeroderma Pigmentosum [MESH:D014983] (213) 
 Xeroderma Pigmentosum, Complementation Group B [MESH:C562590] (31)
 Xeroderma Pigmentosum, Complementation Group D [MESH:C562591] (48)
 Xeroderma Pigmentosum, Complementation Group F [MESH:C562592] (38)
 XFE Progeroid Syndrome [MESH:C567043] (38)
 Infant, Newborn, Diseases [MESH:D007232] (3064) 
 Asphyxia Neonatorum [MESH:D001238] (1648)
 Infant, Premature, Diseases [MESH:D007235] (1292)
 Thrombocytopenia, Neonatal Alloimmune [MESH:D054098] (79)
 Hyperbilirubinemia, Neonatal [MESH:D051556] (469) 
 Jaundice, Neonatal [MESH:D007567] (290) 
 Jaundice, Chronic Idiopathic [MESH:D007566] (287)
 Ichthyosis [MESH:D007057] (476) 
 Ichthyosis, X-Linked [MESH:D016114] (91)
 Ichthyosiform Erythroderma, Congenital [MESH:D016113] (238) 
 Hyperkeratosis, Epidermolytic [MESH:D017488] (136)
 Rothmund-Thomson Syndrome [MESH:D011038] (35) 
 Rapadilino syndrome [MESH:C535288] (30)
 Severe Combined Immunodeficiency [MESH:D016511] (315) 
 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell -Positive, NK Cell-Negative [MESH:C563440] (79)
 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) 
 Cartilage Diseases [MESH:D002357] (438)
 Dermatomyositis [MESH:D003882] (1826)
 Marfan Syndrome [MESH:D008382] (646)
 Pseudoxanthoma Elasticum [MESH:D011561] (115)
 Scleroderma, Localized [MESH:D012594] (1597)
 Collagen Diseases [MESH:D003095] (1267) 
 Keloid [MESH:D007627] (1111)
 Cutis Laxa [MESH:D003483] (177) 
 Cutis laxa, recessive [MESH:C536225] (35)
 Lupus Erythematosus, Systemic [MESH:D008180] (2317) 
 Lupus Nephritis [MESH:D008181] (602)
 Mucinoses [MESH:D017520] (177) 
 Mucopolysaccharidoses [MESH:D009083] (164) 
 Mucopolysaccharidosis III [MESH:D009084] (43)
 Noonan Syndrome [MESH:D009634] (506) 
 Noonan Syndrome 5 [MESH:C548083] (169)
 Rheumatic Diseases [MESH:D012216] (3619) 
 Arthritis, Juvenile [MESH:D001171] (1060)
 Arthritis, Rheumatoid [MESH:D001172] (3603)
 Skin Diseases [MESH:D012871] (8774) 
 Dermatomyositis [MESH:D003882] (1826)
 Nephrogenic Fibrosing Dermopathy [MESH:D054989] (452)
 Pruritus [MESH:D011537] (647)
 Scleroderma, Localized [MESH:D012594] (1597)
 Skin Neoplasms [MESH:D012878] (2991)
 Acneiform Eruptions [MESH:D017486] (1312) 
 Chloracne [MESH:D054506] (1274)
 Breast Diseases [MESH:D001941] (6148) 
 Breast Neoplasms [MESH:D001943] (6077) 
 Carcinoma, Ductal, Breast [MESH:D018270] (1112)
 Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)
 Gynecomastia [MESH:D006177] (484) 
 Aromatase deficiency [MESH:C537436] (277)
 Dermatitis [MESH:D003872] (4530) 
 Drug Eruptions [MESH:D003875] (2697)
 Dermatitis, Atopic [MESH:D003876] (2052) 
 Dermatitis, Atopic, 4 [MESH:C565291] (130)
 Dermatitis, Contact [MESH:D003877] (3394) 
 Dermatitis, Allergic Contact [MESH:D017449] (3241)
 Dermatitis, Occupational [MESH:D009783] (311)
 Facial Dermatoses [MESH:D005148] (1336) 
 Acneiform Eruptions [MESH:D017486] (1312) 
 Chloracne [MESH:D054506] (1274)
 Hair Diseases [MESH:D006201] (1891) 
 Trichorhinophalangeal Syndrome, Type III [MESH:C566033] (24)
 Hirsutism [MESH:D006628] (323) 
 Cortisone reductase deficiency [MESH:C536447] (136)
 Hypotrichosis [MESH:D007039] (1513) 
 Alopecia [MESH:D000505] (1453)
 Keratosis [MESH:D007642] (1941) 
 Ichthyosis [MESH:D007057] (481) 
 Ichthyosis, X-Linked [MESH:D016114] (91)
 Ichthyosiform Erythroderma, Congenital [MESH:D016113] (238) 
 Hyperkeratosis, Epidermolytic [MESH:D017488] (136)
 Photosensitivity Disorders [MESH:D010787] (272) 
 Sunburn [MESH:D013471] (52)
 Xeroderma Pigmentosum [MESH:D014983] (213) 
 Xeroderma Pigmentosum, Complementation Group B [MESH:C562590] (31)
 Xeroderma Pigmentosum, Complementation Group D [MESH:C562591] (48)
 Xeroderma Pigmentosum, Complementation Group F [MESH:C562592] (38)
 XFE Progeroid Syndrome [MESH:C567043] (38)
 Pigmentation Disorders [MESH:D010859] (1215) 
 Griscelli syndrome type 1 [MESH:C537301] (42)
 Hyperpigmentation [MESH:D017495] (523) 
 Melanosis [MESH:D008548] (459) 
 Lentigo [MESH:D007911] (329) 
 LEOPARD Syndrome [MESH:D044542] (299) 
 LEOPARD syndrome, 2 [MESH:C537117] (169)
 Hypopigmentation [MESH:D017496] (718) 
 Yemenite deaf-blind hypopigmentation syndrome [MESH:C536771] (17)
 Vitiligo [MESH:D014820] (504)
 Albinism [MESH:D000417] (359) 
 Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)
 Albinism, Oculocutaneous [MESH:D016115] (234) 
 Hermanski-Pudlak Syndrome [MESH:D022861] (82) 
 Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)
 Piebaldism [MESH:D016116] (167) 
 Griscelli syndrome type 1 [MESH:C537301] (42)
 Xeroderma Pigmentosum [MESH:D014983] (213) 
 Xeroderma Pigmentosum, Complementation Group B [MESH:C562590] (31)
 Xeroderma Pigmentosum, Complementation Group D [MESH:C562591] (48)
 Xeroderma Pigmentosum, Complementation Group F [MESH:C562592] (38)
 XFE Progeroid Syndrome [MESH:C567043] (38)
 Skin Abnormalities [MESH:D012868] (1709) 
 Tight skin contracture syndrome, lethal [MESH:C536920] (84)
 Pseudoxanthoma Elasticum [MESH:D011561] (115)
 Ectodermal Dysplasia [MESH:D004476] (958) 
 Cardiofaciocutaneous syndrome [MESH:C535579] (407)
 Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant [MESH:C567411] (533)
 Ectodermal Dysplasia 3, Anhidrotic [MESH:D053359] (10)
 Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive [MESH:D053360] (10)
 Ichthyosis [MESH:D007057] (481) 
 Ichthyosis, X-Linked [MESH:D016114] (91)
 Ichthyosiform Erythroderma, Congenital [MESH:D016113] (238) 
 Hyperkeratosis, Epidermolytic [MESH:D017488] (136)
 Rothmund-Thomson Syndrome [MESH:D011038] (35) 
 Rapadilino syndrome [MESH:C535288] (30)
 Xeroderma Pigmentosum [MESH:D014983] (213) 
 Xeroderma Pigmentosum, Complementation Group B [MESH:C562590] (31)
 Xeroderma Pigmentosum, Complementation Group D [MESH:C562591] (48)
 Xeroderma Pigmentosum, Complementation Group F [MESH:C562592] (38)
 XFE Progeroid Syndrome [MESH:C567043] (38)
 Skin Diseases, Eczematous [MESH:D017443] (3740) 
 Dermatitis, Atopic [MESH:D003876] (2052) 
 Dermatitis, Atopic, 4 [MESH:C565291] (130)
 Dermatitis, Contact [MESH:D003877] (3394) 
 Dermatitis, Allergic Contact [MESH:D017449] (3241)
 Dermatitis, Occupational [MESH:D009783] (311)
 Skin Diseases, Genetic [MESH:D012873] (3481) 
 Ichthyosis, X-Linked [MESH:D016114] (91)
 Pseudoxanthoma Elasticum [MESH:D011561] (115)
 Albinism [MESH:D000417] (359) 
 Albinism, Oculocutaneous [MESH:D016115] (234) 
 Hermanski-Pudlak Syndrome [MESH:D022861] (82) 
 Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)
 Piebaldism [MESH:D016116] (167) 
 Griscelli syndrome type 1 [MESH:C537301] (42)
 Cutis Laxa [MESH:D003483] (177) 
 Cutis laxa, recessive [MESH:C536225] (35)
 Dermatitis, Atopic [MESH:D003876] (2052) 
 Dermatitis, Atopic, 4 [MESH:C565291] (130)
 Ectodermal Dysplasia [MESH:D004476] (958) 
 Cardiofaciocutaneous syndrome [MESH:C535579] (407)
 Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant [MESH:C567411] (533)
 Ectodermal Dysplasia 3, Anhidrotic [MESH:D053359] (10)
 Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive [MESH:D053360] (10)
 Hereditary Autoinflammatory Diseases [MESH:D056660] (247) 
 Cryopyrin-Associated Periodic Syndromes [MESH:D056587] (102) 
 Familial Cold Autoinflammatory Syndrome 2 [MESH:C567090] (11)
 Ichthyosiform Erythroderma, Congenital [MESH:D016113] (238) 
 Hyperkeratosis, Epidermolytic [MESH:D017488] (136)
 Porphyrias, Hepatic [MESH:D017094] (881) 
 Porphyria Cutanea Tarda [MESH:D017119] (766)
 Rothmund-Thomson Syndrome [MESH:D011038] (35) 
 Rapadilino syndrome [MESH:C535288] (30)
 Xeroderma Pigmentosum [MESH:D014983] (213) 
 Xeroderma Pigmentosum, Complementation Group B [MESH:C562590] (31)
 Xeroderma Pigmentosum, Complementation Group D [MESH:C562591] (48)
 Xeroderma Pigmentosum, Complementation Group F [MESH:C562592] (38)
 XFE Progeroid Syndrome [MESH:C567043] (38)
 Skin Diseases, Infectious [MESH:D012874] (2684) 
 Dermatomycoses [MESH:D003881] (267) 
 Candidiasis, Chronic Mucocutaneous [MESH:D002178] (224) 
 Candidiasis familial chronic mucocutaneous, autosomal recessive [MESH:C537979] (36)
 Skin Diseases, Bacterial [MESH:D017192] (156) 
 Hidradenitis Suppurativa [MESH:D017497] (120) 
 Hidradenitis suppurativa, familial [MESH:C538118] (67)
 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)
 HIV-Associated Lipodystrophy Syndrome [MESH:D039682] (91)
 Lipodystrophy, Familial Partial [MESH:D052496] (589)
 Porphyrias [MESH:D011164] (917) 
 Porphyrias, Hepatic [MESH:D017094] (881) 
 Porphyria Cutanea Tarda [MESH:D017119] (766)
 Skin Diseases, Papulosquamous [MESH:D017444] (3392) 
 Lichenoid Eruptions [MESH:D017512] (1324)
 Psoriasis [MESH:D011565] (3278) 
 Arthritis, Psoriatic [MESH:D015535] (1859)
 Skin Diseases, Vascular [MESH:D017445] (3288) 
 Behcet Syndrome [MESH:D001528] (1784)
 Mucocutaneous Lymph Node Syndrome [MESH:D009080] (158)
 Urticaria [MESH:D014581] (2668) 
 Angioedema [MESH:D000799] (837)
 Skin Diseases, Vesiculobullous [MESH:D012872] (1754) 
 Pemphigoid, Bullous [MESH:D010391] (707)
 Sweat Gland Diseases [MESH:D013543] (231) 
 Hidradenitis [MESH:D016575] (121) 
 Hidradenitis Suppurativa [MESH:D017497] (120) 
 Hidradenitis suppurativa, familial [MESH:C538118] (67)
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)
 Brain Diseases, Metabolic [MESH:D001928] (3350) 
 Hepatic Encephalopathy [MESH:D006501] (1795)
 Brain Diseases, Metabolic, Inborn [MESH:D020739] (2634) 
 Hepatolenticular Degeneration [MESH:D006527] (473)
 Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497) 
 Adrenoleukodystrophy [MESH:D000326] (1348)
 Leukodystrophy, Globoid Cell [MESH:D007965] (65) 
 Krabbe Disease, Atypical, due to Saposin A Deficiency [MESH:C567097] (56)
 Leukodystrophy, Metachromatic [MESH:D007966] (76) 
 Metachromatic Leukodystrophy due to Saposin B Deficiency [MESH:C562609] (56)
 Combined Saposin Deficiency [MESH:C567125] (56)
 Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636) 
 Sphingolipidoses [MESH:D013106] (582) 
 Fabry Disease [MESH:D000795] (56)
 Gaucher Disease [MESH:D005776] (299) 
 Gaucher Disease, Atypical, Due To Saposin C Deficiency [MESH:C566435] (56)
 Leukodystrophy, Globoid Cell [MESH:D007965] (65) 
 Krabbe Disease, Atypical, due to Saposin A Deficiency [MESH:C567097] (56)
 Sulfatidosis [MESH:D052516] (86) 
 Leukodystrophy, Metachromatic [MESH:D007966] (76) 
 Metachromatic Leukodystrophy due to Saposin B Deficiency [MESH:C562609] (56)
 Combined Saposin Deficiency [MESH:C567125] (56)
 Peroxisomal Disorders [MESH:D018901] (1472) 
 Adrenoleukodystrophy [MESH:D000326] (1348)
 Refsum Disease [MESH:D012035] (173) 
 Neuropathy, hereditary motor and sensory, LOM type [MESH:C535716] (131)
 Calcium Metabolism Disorders [MESH:D002128] (3634) 
 Hypercalcemia [MESH:D006934] (1999)
 Calcinosis [MESH:D002114] (2989) 
 Aortic Valve, Calcification of [MESH:C562942] (655)
 Calcification of Joints and Arteries [MESH:C565891] (60)
 DNA Repair-Deficiency Disorders [MESH:D049914] (2245) 
 Ataxia Telangiectasia [MESH:D001260] (142)
 Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258)
 Li-Fraumeni Syndrome [MESH:D016864] (859)
 Werner Syndrome [MESH:D014898] (88)
 Cockayne Syndrome [MESH:D003057] (107) 
 XFE Progeroid Syndrome [MESH:C567043] (38)
 Fanconi Anemia [MESH:D005199] (1604) 
 Fanconi Anemia, Complementation Group D1 [MESH:C563980] (68)
 Rothmund-Thomson Syndrome [MESH:D011038] (35) 
 Rapadilino syndrome [MESH:C535288] (30)
 Severe Combined Immunodeficiency [MESH:D016511] (294) 
 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell -Positive, NK Cell-Negative [MESH:C563440] (79)
 Bare Lymphocyte Syndrome, Type I [MESH:C565759] (101)
 Xeroderma Pigmentosum [MESH:D014983] (213) 
 Xeroderma Pigmentosum, Complementation Group B [MESH:C562590] (31)
 Xeroderma Pigmentosum, Complementation Group D [MESH:C562591] (48)
 Xeroderma Pigmentosum, Complementation Group F [MESH:C562592] (38)
 XFE Progeroid Syndrome [MESH:C567043] (38)
 Glucose Metabolism Disorders [MESH:D044882] (6122) 
 Hyperglycemia [MESH:D006943] (1858)
 Hypoglycemia [MESH:D007003] (2420)
 Diabetes Mellitus [MESH:D003920] (5891) 
 Diabetes Mellitus, Experimental [MESH:D003921] (4771)
 Diabetes Mellitus, Type 2 [MESH:D003924] (4219)
 Diabetes, Gestational [MESH:D016640] (1152)
 Diabetes Mellitus, Type 1 [MESH:D003922] (1897) 
 Wolcott-Rallison syndrome [MESH:C536739] (92)
 Hyperinsulinism [MESH:D006946] (3586) 
 Insulin Resistance [MESH:D007333] (3511) 
 Metabolic Syndrome X [MESH:D024821] (2151)
 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) 
 Hypobetalipoproteinemias [MESH:D006995] (181) 
 Hypobetalipoproteinemia, Familial, Apolipoprotein B [MESH:D052476] (131)
 Lipid Metabolism, Inborn Errors [MESH:D008052] (461) 
 Lipase deficiency combined [MESH:C535904] (16)
 Lipodystrophy [MESH:D008060] (930) 
 Mandibuloacral dysplasia with type A lipodystrophy [MESH:C535705] (490)
 HIV-Associated Lipodystrophy Syndrome [MESH:D039682] (91)
 Lipodystrophy, Familial Partial [MESH:D052496] (589)
 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, 6 [MESH:C566627] (20)
 Sphingolipidoses [MESH:D013106] (582) 
 Fabry Disease [MESH:D000795] (56)
 Gaucher Disease [MESH:D005776] (299) 
 Gaucher Disease, Atypical, Due To Saposin C Deficiency [MESH:C566435] (56)
 Leukodystrophy, Globoid Cell [MESH:D007965] (65) 
 Krabbe Disease, Atypical, due to Saposin A Deficiency [MESH:C567097] (56)
 Sulfatidosis [MESH:D052516] (86) 
 Leukodystrophy, Metachromatic [MESH:D007966] (76) 
 Metachromatic Leukodystrophy due to Saposin B Deficiency [MESH:C562609] (56)
 Combined Saposin Deficiency [MESH:C567125] (56)
 Malabsorption Syndromes [MESH:D008286] (1869) 
 Celiac Disease [MESH:D002446] (340)
 Hyperhomocysteinemia [MESH:D020138] (1716)
 Metabolism, Inborn Errors [MESH:D008661] (6028) 
 Trimethylaminuria [MESH:C536561] (61)
 Aromatase deficiency [MESH:C537436] (277)
 Coumarin Resistance [MESH:C563039] (397)
 Drug Metabolism, Poor, CYP2C19-Related [MESH:C563703] (182)
 Drug Metabolism, Poor, CYP2D6-Related [MESH:C563835] (220)
 Methylcobalamin Deficiency, CblG Type [MESH:C565394] (49)
 Hypoproteinemia, Hypercatabolic [MESH:C565476] (99)
 Progeria [MESH:D011371] (105)
 Amino Acid Metabolism, Inborn Errors [MESH:D000592] (2559) 
 succinic semialdehyde dehydrogenase deficiency [MESH:C535803] (42)
 Alpha-ketoglutarate dehydrogenase deficiency [MESH:C536582] (59)
 Methylmalonic acidemia [MESH:C537358] (764)
 Hyperhomocysteinemia [MESH:D020138] (1724)
 Albinism [MESH:D000417] (359) 
 Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)
 Albinism, Oculocutaneous [MESH:D016115] (234) 
 Hermanski-Pudlak Syndrome [MESH:D022861] (82) 
 Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)
 Piebaldism [MESH:D016116] (167) 
 Griscelli syndrome type 1 [MESH:C537301] (42)
 Brain Diseases, Metabolic, Inborn [MESH:D020739] (2634) 
 Hepatolenticular Degeneration [MESH:D006527] (473)
 Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497) 
 Adrenoleukodystrophy [MESH:D000326] (1348)
 Leukodystrophy, Globoid Cell [MESH:D007965] (65) 
 Krabbe Disease, Atypical, due to Saposin A Deficiency [MESH:C567097] (56)
 Leukodystrophy, Metachromatic [MESH:D007966] (76) 
 Metachromatic Leukodystrophy due to Saposin B Deficiency [MESH:C562609] (56)
 Combined Saposin Deficiency [MESH:C567125] (56)
 Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636) 
 Sphingolipidoses [MESH:D013106] (582) 
 Fabry Disease [MESH:D000795] (56)
 Gaucher Disease [MESH:D005776] (299) 
 Gaucher Disease, Atypical, Due To Saposin C Deficiency [MESH:C566435] (56)
 Leukodystrophy, Globoid Cell [MESH:D007965] (65) 
 Krabbe Disease, Atypical, due to Saposin A Deficiency [MESH:C567097] (56)
 Sulfatidosis [MESH:D052516] (86) 
 Leukodystrophy, Metachromatic [MESH:D007966] (76) 
 Metachromatic Leukodystrophy due to Saposin B Deficiency [MESH:C562609] (56)
 Combined Saposin Deficiency [MESH:C567125] (56)
 Peroxisomal Disorders [MESH:D018901] (1472) 
 Adrenoleukodystrophy [MESH:D000326] (1348)
 Refsum Disease [MESH:D012035] (173) 
 Neuropathy, hereditary motor and sensory, LOM type [MESH:C535716] (131)
 Carbohydrate Metabolism, Inborn Errors [MESH:D002239] (1100) 
 Glucosephosphate Dehydrogenase Deficiency [MESH:D005955] (195)
 Glycogen Storage Disease [MESH:D006008] (530) 
 Glycogen Storage Disease IXB [MESH:C563008] (16)
 Glycogen Storage Disease Type V [MESH:D006012] (165)
 Mucopolysaccharidoses [MESH:D009083] (164) 
 Mucopolysaccharidosis III [MESH:D009084] (43)
 Hyperbilirubinemia, Hereditary [MESH:D006933] (476) 
 Jaundice, Chronic Idiopathic [MESH:D007566] (287)
 Lipid Metabolism, Inborn Errors [MESH:D008052] (2071) 
 Lipase deficiency combined [MESH:C535904] (16)
 Hyperlipidemia, Familial Combined [MESH:D006950] (372)
 Hyperlipoproteinemia Type II [MESH:D006938] (707)
 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, 6 [MESH:C566627] (20)
 Sphingolipidoses [MESH:D013106] (582) 
 Fabry Disease [MESH:D000795] (56)
 Gaucher Disease [MESH:D005776] (299) 
 Gaucher Disease, Atypical, Due To Saposin C Deficiency [MESH:C566435] (56)
 Leukodystrophy, Globoid Cell [MESH:D007965] (65) 
 Krabbe Disease, Atypical, due to Saposin A Deficiency [MESH:C567097] (56)
 Sulfatidosis [MESH:D052516] (86) 
 Leukodystrophy, Metachromatic [MESH:D007966] (76) 
 Metachromatic Leukodystrophy due to Saposin B Deficiency [MESH:C562609] (56)
 Combined Saposin Deficiency [MESH:C567125] (56)
 Lysosomal Storage Diseases [MESH:D016464] (761) 
 Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636) 
 Sphingolipidoses [MESH:D013106] (582) 
 Fabry Disease [MESH:D000795] (56)
 Gaucher Disease [MESH:D005776] (299) 
 Gaucher Disease, Atypical, Due To Saposin C Deficiency [MESH:C566435] (56)
 Leukodystrophy, Globoid Cell [MESH:D007965] (65) 
 Krabbe Disease, Atypical, due to Saposin A Deficiency [MESH:C567097] (56)
 Sulfatidosis [MESH:D052516] (86) 
 Leukodystrophy, Metachromatic [MESH:D007966] (76) 
 Metachromatic Leukodystrophy due to Saposin B Deficiency [MESH:C562609] (56)
 Combined Saposin Deficiency [MESH:C567125] (56)
 Mucopolysaccharidoses [MESH:D009083] (164) 
 Mucopolysaccharidosis III [MESH:D009084] (43)
 Metal Metabolism, Inborn Errors [MESH:D008664] (2017) 
 Molybdenum cofactor deficiency [MESH:C535811] (57)
 Hemochromatosis [MESH:D006432] (1694)
 Hepatolenticular Degeneration [MESH:D006527] (473)
 Peroxisomal Disorders [MESH:D018901] (1788) 
 Adrenoleukodystrophy [MESH:D000326] (1348)
 Refsum Disease [MESH:D012035] (173) 
 Neuropathy, hereditary motor and sensory, LOM type [MESH:C535716] (131)
 Porphyrias [MESH:D011164] (917) 
 Porphyrias, Hepatic [MESH:D017094] (881) 
 Porphyria Cutanea Tarda [MESH:D017119] (766)
 Purine-Pyrimidine Metabolism, Inborn Errors [MESH:D011686] (496) 
 Dihydropyrimidine Dehydrogenase Deficiency [MESH:D054067] (88)
 Renal Tubular Transport, Inborn Errors [MESH:D015499] (1026) 
 Hypomagnesemia 4, Renal [MESH:C567127] (225)
 Pseudohypoaldosteronism [MESH:D011546] (232)
 Steroid Metabolism, Inborn Errors [MESH:D043202] (962) 
 Pseudovaginal Perineoscrotal Hypospadias [MESH:C535830] (59)
 Cortisone reductase deficiency [MESH:C536447] (136)
 Ichthyosis, X-Linked [MESH:D016114] (91)
 Mitochondrial Diseases [MESH:D028361] (2561) 
 Mitochondrial Complex III Deficiency [MESH:C565128] (54)
 Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 [MESH:C567768] (50)
 Mitochondrial Myopathies [MESH:D017240] (2176) 
 Ophthalmoplegia, Chronic Progressive External [MESH:D017246] (1313) 
 Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 [MESH:C567768] (50)
 Porphyrias [MESH:D011164] (917) 
 Porphyrias, Hepatic [MESH:D017094] (881) 
 Porphyria Cutanea Tarda [MESH:D017119] (766)
 Proteostasis Deficiencies [MESH:D057165] (3522) 
 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) 
 Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia [MESH:C563476] (57)
 Skin Diseases, Metabolic [MESH:D012875] (1574) 
 Lipodystrophy [MESH:D008060] (930) 
 Mandibuloacral dysplasia with type A lipodystrophy [MESH:C535705] (490)
 HIV-Associated Lipodystrophy Syndrome [MESH:D039682] (91)
 Lipodystrophy, Familial Partial [MESH:D052496] (589)
 Porphyrias [MESH:D011164] (917) 
 Porphyrias, Hepatic [MESH:D017094] (881) 
 Porphyria Cutanea Tarda [MESH:D017119] (766)
 Wasting Syndrome [MESH:D019282] (1959) 
 HIV Wasting Syndrome [MESH:D019247] (1956)
 Water-Electrolyte Imbalance [MESH:D014883] (2790) 
 Hypercalcemia [MESH:D006934] (1999)
 Nutrition Disorders [MESH:D009748] (4945) 
 Malnutrition [MESH:D044342] (2754) 
 Deficiency Diseases [MESH:D003677] (2742) 
 Protein Deficiency [MESH:D011488] (1057)
 Avitaminosis [MESH:D001361] (2304) 
 Vitamin A Deficiency [MESH:D014802] (705)
 Vitamin B Deficiency [MESH:D014804] (1817) 
 Hyperhomocysteinemia [MESH:D020138] (1716)
 Vitamin E Deficiency [MESH:D014811] (274) 
 Ataxia with vitamin E deficiency [MESH:C535393] (271)
 Overnutrition [MESH:D044343] (4463) 
 Obesity [MESH:D009765] (4462) 
 Obesity, Morbid [MESH:D009767] (515)
 Wasting Syndrome [MESH:D019282] (1959) 
 HIV Wasting Syndrome [MESH:D019247] (1956)
C19. Endocrine System Diseases 
C19. Endocrine System Diseases
 Endocrine System Diseases [MESH:D004700] (8062) 
 Endocrine-Cerebroosteodysplasia [MESH:C567210] (26)
 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)
 Adrenal Insufficiency [MESH:D000309] (1599) 
 Adrenoleukodystrophy [MESH:D000326] (1348)
 Diabetes Mellitus [MESH:D003920] (6159) 
 Diabetes, Gestational [MESH:D016640] (1152)
 Diabetes Mellitus, Experimental [MESH:D003921] (4771)
 Diabetes Mellitus, Type 2 [MESH:D003924] (4219)
 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) 
 Wolcott-Rallison syndrome [MESH:C536739] (92)
 Dwarfism [MESH:D004392] (698) 
 Rapadilino syndrome [MESH:C535288] (30)
 Laron Syndrome [MESH:D046150] (91)
 Dwarfism, Pituitary [MESH:D004393] (235) 
 Short Stature, Idiopathic, Autosomal [MESH:C565805] (194)
 Endocrine Gland Neoplasms [MESH:D004701] (4925) 
 Pituitary Neoplasms [MESH:D010911] (981)
 Adrenal Gland Neoplasms [MESH:D000310] (917) 
 Adrenal Cortex Neoplasms [MESH:D000306] (823) 
 Adrenocortical Carcinoma [MESH:D018268] (821) 
 Adrenocortical Carcinoma, Hereditary [MESH:C565972] (769)
 Multiple Endocrine Neoplasia [MESH:D009377] (375) 
 Multiple Endocrine Neoplasia, Type IV [MESH:C567059] (297)
 Ovarian Neoplasms [MESH:D010051] (3275) 
 Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)
 Pancreatic Neoplasms [MESH:D010190] (3820) 
 Pancreatic cancer, adult [MESH:C535836] (572)
 Melanoma-Pancreatic Cancer Syndrome [MESH:C563985] (159)
 Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)
 Testicular Neoplasms [MESH:D013736] (520) 
 Testicular Germ Cell Tumor [MESH:C563236] (176)
 Thyroid Neoplasms [MESH:D013964] (2040) 
 Thyroid cancer, anaplastic [MESH:C536910] (489)
 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) 
 Cortisone reductase deficiency [MESH:C536447] (136)
 Aromatase deficiency [MESH:C537436] (277)
 46, XY Disorders of Sex Development [MESH:D058490] (1060) 
 Pseudovaginal Perineoscrotal Hypospadias [MESH:C535830] (59)
 Denys-Drash Syndrome [MESH:D030321] (57)
 Frasier Syndrome [MESH:D052159] (57)
 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) 
 Sexual Infantilism [MESH:D050035] (277)
 Ovarian Diseases [MESH:D010049] (4253) 
 Chondrodysplasia, acromesomelic, with genital anomalies [MESH:C537913] (20)
 Primary Ovarian Insufficiency [MESH:D016649] (270)
 Ovarian Cysts [MESH:D010048] (2534) 
 Polycystic Ovary Syndrome [MESH:D011085] (2186)
 Ovarian Neoplasms [MESH:D010051] (3281) 
 Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)
 Testicular Diseases [MESH:D013733] (777) 
 Cryptorchidism [MESH:D003456] (215)
 Testicular Neoplasms [MESH:D013736] (520) 
 Testicular Germ Cell Tumor [MESH:C563236] (176)
 Parathyroid Diseases [MESH:D010279] (1604) 
 Hyperparathyroidism [MESH:D006961] (1475) 
 Hyperparathyroidism, Secondary [MESH:D006962] (1138)
 Hypoparathyroidism [MESH:D007011] (376) 
 22q11 Deletion Syndrome [MESH:D058165] (237) 
 DiGeorge Syndrome [MESH:D004062] (236)
 Pituitary Diseases [MESH:D010900] (1829) 
 Pituitary Neoplasms [MESH:D010911] (981)
 Hyperpituitarism [MESH:D006964] (1259) 
 Hyperprolactinemia [MESH:D006966] (603)
 Hypopituitarism [MESH:D007018] (732) 
 Dwarfism, Pituitary [MESH:D004393] (235) 
 Short Stature, Idiopathic, Autosomal [MESH:C565805] (194)
 Thyroid Diseases [MESH:D013959] (2808) 
 Thyrotoxicosis [MESH:D013971] (93)
 Goiter [MESH:D006042] (359) 
 Graves Disease [MESH:D006111] (278) 
 Graves Ophthalmopathy [MESH:D049970] (165)
 Hyperthyroidism [MESH:D006980] (1191) 
 Thyrotoxicosis [MESH:D013971] (93)
 Graves Disease [MESH:D006111] (278) 
 Graves Ophthalmopathy [MESH:D049970] (165)
 Thyroid Neoplasms [MESH:D013964] (2040) 
 Thyroid cancer, anaplastic [MESH:C536910] (489)
 Thyroid cancer, papillary [MESH:C536915] (111)
C20. Immune System Diseases 
C20. Immune System Diseases
 Immune System Diseases [MESH:D007154] (7674) 
 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)
 Hepatitis, Autoimmune [MESH:D019693] (1982)
 Pemphigoid, Bullous [MESH:D010391] (707)
 Autoimmune Diseases of the Nervous System [MESH:D020274] (2238) 
 Myasthenia Gravis [MESH:D009157] (632)
 Uveomeningoencephalitic Syndrome [MESH:D014607] (39)
 Demyelinating Autoimmune Diseases, CNS [MESH:D020278] (1732) 
 Neuromyelitis Optica [MESH:D009471] (248)
 Multiple Sclerosis [MESH:D009103] (1716) 
 Neuromyelitis Optica [MESH:D009471] (248)
 Myelitis, Transverse [MESH:D009188] (255) 
 Neuromyelitis Optica [MESH:D009471] (248)
 Nervous System Autoimmune Disease, Experimental [MESH:D020721] (810) 
 Encephalomyelitis, Autoimmune, Experimental [MESH:D004681] (806)
 Diabetes Mellitus, Type 1 [MESH:D003922] (1893) 
 Wolcott-Rallison syndrome [MESH:C536739] (92)
 Graves Disease [MESH:D006111] (278) 
 Graves Ophthalmopathy [MESH:D049970] (165)
 Lupus Erythematosus, Systemic [MESH:D008180] (2317) 
 Lupus Nephritis [MESH:D008181] (602)
 Hypersensitivity [MESH:D006967] (5873) 
 Drug Hypersensitivity [MESH:D004342] (4000) 
 Asthma, Aspirin-Induced [MESH:D055963] (1055)
 Drug Eruptions [MESH:D003875] (2695)
 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) 
 Dermatitis, Atopic, 4 [MESH:C565291] (130)
 Food Hypersensitivity [MESH:D005512] (608) 
 Peanut Hypersensitivity [MESH:D021183] (572)
 Respiratory Hypersensitivity [MESH:D012130] (4250) 
 Ige Responsiveness, Atopic [MESH:C564133] (267)
 Alveolitis, Extrinsic Allergic [MESH:D000542] (495)
 Asthma [MESH:D001249] (3914)
 Urticaria [MESH:D014581] (2668) 
 Angioedema [MESH:D000799] (837)
 Immune Complex Diseases [MESH:D007105] (782) 
 Vasculitis, Leukocytoclastic, Cutaneous [MESH:D018366] (121)
 Immunologic Deficiency Syndromes [MESH:D007153] (3788) 
 WHIM syndrome [MESH:C536697] (148)
 Neutrophil Immunodeficiency Syndrome [MESH:C564275] (47)
 LIG4 Syndrome [MESH:C564694] (24)
 MYD88 Deficiency [MESH:C567379] (79)
 Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant [MESH:C567411] (533)
 Agammaglobulinemia [MESH:D000361] (156)
 Ataxia Telangiectasia [MESH:D001260] (142)
 Lymphopenia [MESH:D008231] (990)
 HIV Infections [MESH:D015658] (3402) 
 Acquired Immunodeficiency Syndrome [MESH:D000163] (743)
 HIV-Associated Lipodystrophy Syndrome [MESH:D039682] (91)
 HIV Wasting Syndrome [MESH:D019247] (1956)
 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, Autosomal Recessive, Cytochrome B-Negative [MESH:C565533] (111)
 Job Syndrome [MESH:D007589] (772) 
 Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant [MESH:C567925] (283)
 Severe Combined Immunodeficiency [MESH:D016511] (315) 
 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell -Positive, NK Cell-Negative [MESH:C563440] (79)
 Bare Lymphocyte Syndrome, Type I [MESH:C565759] (101)
 Immunoproliferative Disorders [MESH:D007160] (4761) 
 Hypergammaglobulinemia [MESH:D006942] (137)
 Lymphoproliferative Disorders [MESH:D008232] (4734) 
 Autoimmune Lymphoproliferative Syndrome [MESH:D056735] (704)
 Giant Lymph Node Hyperplasia [MESH:D005871] (1013)
 Plasmacytoma [MESH:D010954] (7)
 Tumor Lysis Syndrome [MESH:D015275] (48)
 Leukemia, Lymphoid [MESH:D007945] (3047) 
 Leukemia, B-Cell [MESH:D015448] (2564) 
 Leukemia, Lymphocytic, Chronic, B-Cell [MESH:D015451] (2562)
 Leukemia, Prolymphocytic [MESH:D015463] (4) 
 Leukemia, Prolymphocytic, T-Cell [MESH:D015461] (2)
 Leukemia, T-Cell [MESH:D015458] (395) 
 Leukemia-Lymphoma, Adult T-Cell [MESH:D015459] (138)
 Leukemia, Prolymphocytic, T-Cell [MESH:D015461] (2)
 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)
 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, Primary Effusion [MESH:D054685] (2)
 Lymphoma, T-Cell [MESH:D016399] (1382) 
 Lymphoma, Large-Cell, Anaplastic [MESH:D017728] (420)
 Lymphoma, T-Cell, Cutaneous [MESH:D016410] (912)
 Multiple Myeloma [MESH:D009101] (2767) 
 Leukemia, Plasma Cell [MESH:D007952] (11)
 Paraproteinemias [MESH:D010265] (2791) 
 Multiple Myeloma [MESH:D009101] (2765)
 Waldenstrom Macroglobulinemia [MESH:D008258] (11)
 Monoclonal Gammopathy of Undetermined Significance [MESH:D008998] (112) 
 Schnitzler Syndrome [MESH:D019873] (110)
C22. Animal Diseases 
C22. Animal Diseases
 Animal Diseases [MESH:D000820] (3656) 
 Disease Models, Animal [MESH:D004195] (2058)
 Mammary Neoplasms, Animal [MESH:D015674] (2735)
 Sheep Diseases [MESH:D012757] (473) 
 Scrapie [MESH:D012608] (462)
C23. Pathological Conditions, Signs and Symptoms 
C23. Pathological Conditions, Signs and Symptoms
 Pathological Conditions, Anatomical [MESH:D020763] (6074) 
 Alopecia [MESH:D000505] (1383)
 Plaque, Atherosclerotic [MESH:D058226] (696)
 Atrophy [MESH:D001284] (2603) 
 Muscular Atrophy [MESH:D009133] (1234)
 Calculi [MESH:D002137] (756) 
 Urinary Calculi [MESH:D014545] (521) 
 Kidney Calculi [MESH:D007669] (455)
 Hernia [MESH:D006547] (2825) 
 Encephalocele [MESH:D004677] (151) 
 Meckel Syndrome, Type 4 [MESH:C567003] (20)
 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) 
 Hepatomegaly [MESH:D006529] (1169)
 Splenomegaly [MESH:D013163] (1258)
 Cardiomegaly [MESH:D006332] (3802) 
 Hypertrophy, Left Ventricular [MESH:D017379] (1430)
 Leukoplakia [MESH:D007971] (922) 
 Leukoplakia, Oral [MESH:D007972] (921)
 Polyps [MESH:D011127] (1633) 
 Intestinal Polyps [MESH:D007417] (1592)
 Pathologic Processes [MESH:D010335] (9863) 
 Emphysema [MESH:D004646] (1096)
 Extravasation of Diagnostic and Therapeutic Materials [MESH:D005119] (506)
 Gliosis [MESH:D005911] (1419)
 Hemolysis [MESH:D006461] (280)
 Hyperplasia [MESH:D006965] (2463)
 Muscle Weakness [MESH:D018908] (478)
 Necrosis [MESH:D009336] (4019)
 Neointima [MESH:D058426] (814)
 Nerve Degeneration [MESH:D009410] (4061)
 Sclerosis [MESH:D012598] (224)
 Ulcer [MESH:D014456] (392)
 Arrhythmias, Cardiac [MESH:D001145] (4658) 
 Atrial Fibrillation [MESH:D001281] (1053)
 Bradycardia [MESH:D001919] (1899)
 Ventricular Fibrillation [MESH:D014693] (624)
 Heart Block [MESH:D006327] (571) 
 Sinoatrial Block [MESH:D012848] (95)
 Tachycardia [MESH:D013610] (3339) 
 Tachycardia, Ventricular [MESH:D017180] (1386) 
 Torsades de Pointes [MESH:D016171] (880)
 Chromosome Aberrations [MESH:D002869] (2352) 
 Chromosome Breakage [MESH:D019457] (139)
 Micronuclei, Chromosome-Defective [MESH:D048629] (1013)
 Translocation, Genetic [MESH:D014178] (557)
 Aneuploidy [MESH:D000782] (1237) 
 Monosomy [MESH:D009006] (1121) 
 Chromosome Deletion [MESH:D002872] (1117) 
 Chromosome 17 deletion [MESH:C538045] (769)
 Death [MESH:D003643] (1328) 
 Embryo Loss [MESH:D020964] (288)
 Death, Sudden [MESH:D003645] (725) 
 Death, Sudden, Cardiac [MESH:D016757] (168)
 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)
 Trichorhinophalangeal Syndrome, Type III [MESH:C566033] (24)
 Fibrosis [MESH:D005355] (3133) 
 Nephrogenic Fibrosing Dermopathy [MESH:D054989] (452)
 Cicatrix [MESH:D002921] (1115) 
 Keloid [MESH:D007627] (1110)
 Genomic Instability [MESH:D042822] (184) 
 Microsatellite Instability [MESH:D053842] (141)
 Granuloma [MESH:D006099] (587) 
 Granuloma, Respiratory Tract [MESH:D015769] (502)
 Growth Disorders [MESH:D006130] (2438) 
 Meier-Gorlin syndrome [MESH:C538012] (133)
 LIG4 Syndrome [MESH:C564694] (24)
 Insulin-Like Growth Factor I, Resistance To [MESH:C564816] (141)
 Fetal Growth Retardation [MESH:D005317] (986)
 Hemorrhage [MESH:D006470] (4451) 
 Shock, Hemorrhagic [MESH:D012771] (2042)
 Gastrointestinal Hemorrhage [MESH:D006471] (815) 
 Peptic Ulcer Hemorrhage [MESH:D010438] (553)
 Intracranial Hemorrhages [MESH:D020300] (3241) 
 Cerebral Hemorrhage [MESH:D002543] (2872)
 Subarachnoid Hemorrhage [MESH:D013345] (1081)
 Hyperbilirubinemia [MESH:D006932] (1860) 
 Jaundice [MESH:D007565] (316) 
 Jaundice, Obstructive [MESH:D041781] (176)
 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)
 Viremia [MESH:D014766] (42)
 Bacteremia [MESH:D016470] (1369) 
 Endotoxemia [MESH:D019446] (1289)
 Ischemia [MESH:D007511] (3049) 
 No-Reflow Phenomenon [MESH:D054318] (277)
 Menstruation Disturbances [MESH:D008599] (926) 
 Amenorrhea [MESH:D000568] (817)
 Metaplasia [MESH:D008679] (1469) 
 Neovascularization, Pathologic [MESH:D009389] (829) 
 Choroidal Neovascularization [MESH:D020256] (550)
 Neoplastic Processes [MESH:D009385] (5317) 
 Anaplasia [MESH:D000708] (348)
 Neoplasm Invasiveness [MESH:D009361] (3388)
 Neoplasm Recurrence, Local [MESH:D009364] (1949)
 Neoplasm, Residual [MESH:D018365] (478)
 Carcinogenesis [MESH:D063646] (3391) 
 Cell Transformation, Neoplastic [MESH:D002471] (3389)
 Neoplasm Metastasis [MESH:D009362] (4441) 
 Lymphatic Metastasis [MESH:D008207] (917)
 Postoperative Complications [MESH:D011183] (5311) 
 Reperfusion Injury [MESH:D015427] (4968) 
 Myocardial Reperfusion Injury [MESH:D015428] (3500)
 Shock [MESH:D012769] (2550) 
 Multiple Organ Failure [MESH:D009102] (1836)
 Shock, Cardiogenic [MESH:D012770] (269)
 Shock, Hemorrhagic [MESH:D012771] (2042)
 Systemic Inflammatory Response Syndrome [MESH:D018746] (1832) 
 Shock, Septic [MESH:D012772] (1830)
 Signs and Symptoms [MESH:D012816] (10659) 
 Aging, Premature [MESH:D019588] (66)
 Asthenia [MESH:D001247] (376)
 Chills [MESH:D023341] (644)
 Edema [MESH:D004487] (3726)
 Fatigue [MESH:D005221] (437)
 Feminization [MESH:D005262] (655)
 Hypergammaglobulinemia [MESH:D006942] (105)
 Reticulocytosis [MESH:D045262] (514)
 Body Temperature Changes [MESH:D001832] (3130) 
 Fever [MESH:D005334] (2856)
 Hypothermia [MESH:D007035] (2075)
 Body Weight [MESH:D001835] (4972) 
 Birth Weight [MESH:D001724] (377)
 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) 
 Obesity, Morbid [MESH:D009767] (515)
 Failure to Thrive [MESH:D005183] (415) 
 Cardiofaciocutaneous syndrome [MESH:C535579] (407)
 Neurologic Manifestations [MESH:D009461] (8702) 
 Meningism [MESH:D008580] (43)
 Seizures [MESH:D012640] (4502)
 Dyskinesias [MESH:D020820] (3285) 
 Dystonia [MESH:D004421] (848)
 Hyperkinesis [MESH:D006948] (1799)
 Ataxia [MESH:D001259] (984) 
 Ataxia with vitamin E deficiency [MESH:C535393] (271)
 Fragile X Tremor Ataxia Syndrome [MESH:C564105] (25)
 Tremor [MESH:D014202] (840) 
 Fragile X Tremor Ataxia Syndrome [MESH:C564105] (25)
 Neurobehavioral Manifestations [MESH:D019954] (4706) 
 Apraxias [MESH:D001072] (114) 
 Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia [MESH:C564330] (56)
 Communication Disorders [MESH:D003147] (2918) 
 Learning Disorders [MESH:D007859] (2727)
 Language Disorders [MESH:D007806] (653) 
 Language Development Disorders [MESH:D007805] (351)
 Speech Disorders [MESH:D013064] (482) 
 Aphasia [MESH:D001037] (219)
 Consciousness Disorders [MESH:D003244] (677) 
 Unconsciousness [MESH:D014474] (657) 
 Coma [MESH:D003128] (492)
 Memory Disorders [MESH:D008569] (3233) 
 Amnesia [MESH:D000647] (1911)
 Intellectual Disability [MESH:D008607] (1476) 
 Epileptic encephalopathy, Lennox-Gastaut type [MESH:C535500] (70)
 Pitt-Hopkins syndrome [MESH:C537403] (113)
 Cerebrooculofacioskeletal Syndrome 2 [MESH:C565185] (48)
 Psychomotor Disorders [MESH:D011596] (576) 
 Apraxias [MESH:D001072] (118) 
 Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia [MESH:C564330] (56)
 Neuromuscular Manifestations [MESH:D020879] (2130) 
 Muscle Weakness [MESH:D018908] (478)
 Muscular Atrophy [MESH:D009133] (1234)
 Muscle Hypertonia [MESH:D009122] (775) 
 Muscle Rigidity [MESH:D009127] (617) 
 Hyperexplexia hereditary [MESH:C538136] (80)
 Muscle Hypotonia [MESH:D009123] (258) 
 Joubert syndrome 5 [MESH:C537688] (20)
 Pain [MESH:D010146] (3869) 
 Headache [MESH:D006261] (1417)
 Pain, Intractable [MESH:D010148] (707)
 Neuralgia [MESH:D009437] (2074) 
 Neuralgia, Postherpetic [MESH:D051474] (742)
 Paralysis [MESH:D010243] (2298) 
 Gastroparesis [MESH:D018589] (732)
 Hemiplegia [MESH:D006429] (184) 
 Alternating hemiplegia of childhood [MESH:C536589] (70)
 Ophthalmoplegia [MESH:D009886] (1468) 
 Supranuclear Palsy, Progressive [MESH:D013494] (235)
 Ophthalmoplegia, Chronic Progressive External [MESH:D017246] (1311) 
 Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 [MESH:C567768] (50)
 Paresis [MESH:D010291] (419) 
 Paraparesis [MESH:D020335] (77) 
 Paraparesis, Spastic [MESH:D020336] (70) 
 Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia [MESH:C564330] (56)
 Sensation Disorders [MESH:D012678] (5009) 
 Taste Disorders [MESH:D013651] (461)
 Hearing Disorders [MESH:D006311] (2101) 
 Tinnitus [MESH:D014012] (109)
 Hearing Loss [MESH:D034381] (2066) 
 Hearing Loss, Bilateral [MESH:D006312] (55)
 Hearing Loss, Sudden [MESH:D003639] (56)
 Deafness [MESH:D003638] (593) 
 Yemenite deaf-blind hypopigmentation syndrome [MESH:C536771] (17)
 Hearing Loss, Sensorineural [MESH:D006319] (1227) 
 Charcot-Marie-Tooth disease, Type 2J [MESH:C535417] (22)
 Griscelli syndrome type 1 [MESH:C537301] (42)
 Somatosensory Disorders [MESH:D020886] (4000) 
 Hyperalgesia [MESH:D006930] (3929)
 Hypesthesia [MESH:D006987] (58)
 Paresthesia [MESH:D010292] (416)
 Vision Disorders [MESH:D014786] (444) 
 Blindness [MESH:D001766] (178) 
 Yemenite deaf-blind hypopigmentation syndrome [MESH:C536771] (17)
 Pain [MESH:D010146] (4511) 
 Abdominal Pain [MESH:D015746] (248)
 Headache [MESH:D006261] (1417)
 Pain, Intractable [MESH:D010148] (707)
 Chest Pain [MESH:D002637] (2642) 
 Angina Pectoris [MESH:D000787] (2568) 
 Acute Coronary Syndrome [MESH:D054058] (2286)
 Angina, Unstable [MESH:D000789] (782)
 Angina, Stable [MESH:D060050] (1702)
 Neuralgia [MESH:D009437] (2074) 
 Neuralgia, Postherpetic [MESH:D051474] (742)
 Signs and Symptoms, Digestive [MESH:D012817] (3095) 
 Abdominal Pain [MESH:D015746] (248)
 Anorexia [MESH:D000855] (854)
 Constipation [MESH:D003248] (506)
 Diarrhea [MESH:D003967] (858)
 Hyperphagia [MESH:D006963] (206)
 Nausea [MESH:D009325] (2300)
 Vomiting [MESH:D014839] (1354)
 Signs and Symptoms, Respiratory [MESH:D012818] (2724) 
 Anoxia [MESH:D000860] (1698)
 Cough [MESH:D003371] (179)
 Hyperoxia [MESH:D018496] (694)
 Respiratory Sounds [MESH:D012135] (713)
 Hyperventilation [MESH:D006985] (652) 
 Pitt-Hopkins syndrome [MESH:C537403] (113)
 Skin Manifestations [MESH:D012877] (1250) 
 Pruritus [MESH:D011537] (648)
 Jaundice [MESH:D007565] (316) 
 Jaundice, Obstructive [MESH:D041781] (176)
 Urological Manifestations [MESH:D020924] (3532) 
 Lower Urinary Tract Symptoms [MESH:D059411] (612) 
 Urinary Bladder, Overactive [MESH:D053201] (530)
 Proteinuria [MESH:D011507] (3293) 
 Albuminuria [MESH:D000419] (2394)
 Virilism [MESH:D014770] (327) 
 Hirsutism [MESH:D006628] (323) 
 Cortisone reductase deficiency [MESH:C536447] (136)
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) 
 Berylliosis [MESH:D001607] (2005)
 Silicosis [MESH:D012829] (1273)
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)
 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)
 Foodborne Diseases [MESH:D005517] (269) 
 Favism [MESH:D005236] (193)
 Neurotoxicity Syndromes [MESH:D020258] (3323) 
 Dyskinesia, Drug-Induced [MESH:D004409] (1389)
 Plant Poisoning [MESH:D010939] (208) 
 Favism [MESH:D005236] (193)
 Substance-Related Disorders [MESH:D019966] (6308) 
 Amphetamine-Related Disorders [MESH:D019969] (2858)
 Cocaine-Related Disorders [MESH:D019970] (3054)
 Marijuana Abuse [MESH:D002189] (1132)
 Psychoses, Substance-Induced [MESH:D011605] (2052)
 Substance Withdrawal Syndrome [MESH:D013375] (2956)
 Alcohol-Related Disorders [MESH:D019973] (3869) 
 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) 
 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) 
 Extravasation of Diagnostic and Therapeutic Materials [MESH:D005119] (506)
 Heat Stress Disorders [MESH:D018882] (226)
 Vascular System Injuries [MESH:D057772] (2086)
 Burns [MESH:D002056] (2565) 
 Sunburn [MESH:D013471] (52)
 Craniocerebral Trauma [MESH:D006259] (3523) 
 Brain Injuries [MESH:D001930] (3431)
 Fractures, Bone [MESH:D050723] (597) 
 Hip Fractures [MESH:D006620] (81)
 Femoral Fractures [MESH:D005264] (137) 
 Hip Fractures [MESH:D006620] (82)
 Hip Injuries [MESH:D025981] (83) 
 Hip Fractures [MESH:D006620] (81)
 Leg Injuries [MESH:D007869] (152) 
 Femoral Fractures [MESH:D005264] (137) 
 Hip Fractures [MESH:D006620] (82)
 Radiation Injuries [MESH:D011832] (2718) 
 Neoplasms, Radiation-Induced [MESH:D009381] (171)
 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)
D01. Inorganic Chemicals 
D01. Inorganic Chemicals
 Acids [MESH:D000143] (789) 
 Acids, Noncarboxylic [MESH:D000148] (784) 
 Boronic Acids [MESH:D001897] (94)
 Boron Compounds [MESH:D001896] (534) 
 Boronic Acids [MESH:D001897] (94)
D02. Organic Chemicals 
D02. Organic Chemicals
 Organic Chemicals [MESH:D009930] (75987) 
 Boron Compounds [MESH:D001896] (540) 
 Boronic Acids [MESH:D001897] (94)
D03. Heterocyclic Compounds 
D03. Heterocyclic Compounds
 Heterocyclic Compounds [MESH:D006571] (56330) 
 Heterocyclic Compounds, 1-Ring [MESH:D006573] (30631) 
 Pyrazines [MESH:D011719] (369)
D27. Chemical Actions and Uses 
D27. Chemical Actions and Uses
 Pharmacologic Actions [MESH:D020228] (2566) 
 Therapeutic Uses [MESH:D045506] (1611) 
 Antineoplastic Agents [MESH:D000970] (319)
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)
 Trichorhinophalangeal Syndrome, Type III [MESH:C566033] (24)
F. Psychiatry and Psychology 
F. Psychiatry and Psychology
 Behavior and Behavior Mechanisms [MESH:D001520] (1594) 
 Neurobehavioral Manifestations [MESH:D019954] (1206) 
 Apraxias [MESH:D001072] (83) 
 Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia [MESH:C564330] (56)
 Intellectual Disability [MESH:D008607] (1109) 
 Epileptic encephalopathy, Lennox-Gastaut type [MESH:C535500] (70)
 Pitt-Hopkins syndrome [MESH:C537403] (113)
 Cerebrooculofacioskeletal Syndrome 2 [MESH:C565185] (48)
 Psychomotor Disorders [MESH:D011596] (250) 
 Apraxias [MESH:D001072] (83) 
 Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia [MESH:C564330] (56)
 Mental Disorders [MESH:D001523] (2063) 
 Spongiform Encephalopathy with Neuropsychiatric Features [MESH:C564678] (98)
 Delirium, Dementia, Amnestic, Cognitive Disorders [MESH:D019965] (487) 
 Cognition Disorders [MESH:D003072] (115) 
 Huntington Disease [MESH:D006816] (102) 
 Huntington Disease-Like 1 [MESH:C566398] (98)
 Dementia [MESH:D003704] (471) 
 Alzheimer Disease [MESH:D000544] (242) 
 Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia [MESH:C564330] (56)
 Frontotemporal Lobar Degeneration [MESH:D057174] (112) 
 Frontotemporal Dementia [MESH:D057180] (109) 
 Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia [MESH:C563476] (57)
 Huntington Disease [MESH:D006816] (102) 
 Huntington Disease-Like 1 [MESH:C566398] (98)
 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)
 Pitt-Hopkins syndrome [MESH:C537403] (113)
 Cerebrooculofacioskeletal Syndrome 2 [MESH:C565185] (48)
 Sexual and Gender Disorders [MESH:D019968] (624) 
 Disorders of Sex Development [MESH:D012734] (609) 
 46, XX Disorders of Sex Development [MESH:D058489] (375) 
 Cortisone reductase deficiency [MESH:C536447] (136)
 Aromatase deficiency [MESH:C537436] (277)
 46, XY Disorders of Sex Development [MESH:D058490] (388) 
 Pseudovaginal Perineoscrotal Hypospadias [MESH:C535830] (59)
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 17 deletion [MESH:C538045] (769)
 Genetic Structures [MESH:D040342] (1612) 
 Chromosomes [MESH:D002875] (1304) 
 Chromosomes, Mammalian [MESH:D033481] (1282) 
 Chromosomes, Human [MESH:D002877] (1280) 
 Chromosomes, Human, 16-18 [MESH:D002902] (799) 
 Chromosomes, Human, Pair 17 [MESH:D002886] (779) 
 Chromosome 17 deletion [MESH:C538045] (769)
 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 17 deletion [MESH:C538045] (769)
 Chromosome Aberrations [MESH:D002869] (1297) 
 Aneuploidy [MESH:D000782] (1220) 
 Monosomy [MESH:D009006] (1121) 
 Chromosome Deletion [MESH:D002872] (1117) 
 Chromosome 17 deletion [MESH:C538045] (769)
 Sequence Deletion [MESH:D017384] (1120) 
 Chromosome Deletion [MESH:D002872] (1117) 
 Chromosome 17 deletion [MESH:C538045] (769)
 Ploidies [MESH:D011003] (1227) 
 Aneuploidy [MESH:D000782] (1220) 
 Monosomy [MESH:D009006] (1121) 
 Chromosome Deletion [MESH:D002872] (1117) 
 Chromosome 17 deletion [MESH:C538045] (769)