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 Coumestrol
D003375
 
  
  
  

MeSH Unique Identifier: D003375
Scope Notes: A daidzein derivative occurring naturally in forage crops which has some estrogenic activity.
Chemical – Gene Interaction

Note 1: Coumestrol results in decreased expression of MARCH7 mRNA

Note 2: Coumestrol results in increased expression of SEPT8 mRNA

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C05. Musculoskeletal Diseases: Musculoskeletal Diseases [MESH:D009140]
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1. Human Genes 
1. Human Genes
 Abhydrolase domain containing [HGNC:ABHD] (24) 
 abhydrolase domain containing 12 [HGNC:ABHD12] (7)
 Acetylcholine receptors, nicotinic [HGNC:CHRN] (130) 
 cholinergic receptor, nicotinic, alpha 5 (neuronal) [HGNC:CHRNA5] (22)
 Acyl-CoA thioesterases [HGNC:ACOT] (25) 
 acyl-CoA thioesterase 7 [HGNC:ACOT7] (13)
 1-acylglycerol-3-phosphate O-acyltransferases [HGNC:AGPAT] (26) 
 1-acylglycerol-3-phosphate O-acyltransferase 3 [HGNC:AGPAT3] (13)
 A-kinase anchor proteins [HGNC:AKAP] (99) 
 A kinase (PRKA) anchor protein 13 [HGNC:AKAP13] (18)
 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) [HGNC:ARFGEF2] (8)
 ezrin [HGNC:EZR] (32)
 neurobeachin [HGNC:NBEA] (10)
 Aldehyde dehydrogenases [HGNC:ALDH] (54) 
 aldehyde dehydrogenase 04 family, member A1 [HGNC:ALDH4A1] (17)
 Aminoacyl tRNA synthetases [HGNC:AARS] (56) 
 Aminoacyl tRNA synthetases, Class II [HGNC:aaRS2] (45) 
 aspartyl-tRNA synthetase 2, mitochondrial [HGNC:DARS2] (8)
 Ankyrin repeat domain containing [HGNC:ANKRD] (566) 
 euchromatic histone-lysine N-methyltransferase 1 [HGNC:EHMT1] (11)
 glutaminase [HGNC:GLS] (38)
 notch 3 [HGNC:NOTCH3] (19)
 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)
 protein phosphatase 1, regulatory subunit 13 like [HGNC:PPP1R13L] (7)
 Argonaute/PIWI family [HGNC:AGO] (23) 
 argonaute RISC catalytic component 2 [HGNC:AGO2] (23)
 Armadillo repeat containing [HGNC:ARMC] (176) 
 catenin (cadherin-associated protein), delta 2 [HGNC:CTNND2] (18)
 junction plakoglobin [HGNC:JUP] (20)
 Arylsulfatase family [HGNC:ARS] (5) 
 galactosamine (N-acetyl)-6-sulfate sulfatase [HGNC:GALNS] (5)
 Ataxins [HGNC:ATXN] (46) 
 ataxin 01 [HGNC:ATXN1] (21)
 ATPases [HGNC:ATP] (106) 
 ATPases, AAA [HGNC:AATP] (69) 
 origin recognition complex, subunit 1 [HGNC:ORC1] (20)
 proteasome (prosome, macropain) 26S subunit, ATPase, 3 [HGNC:PSMC3] (15)
 ATPases, P-type [HGNC:PATP] (43) 
 ATPase, aminophospholipid transporter, class I, type 8B, member 1 [HGNC:ATP8B1] (25)
 ATPase, Ca++ transporting, type 2C, member 1 [HGNC:ATP2C1] (6)
 ATP-binding cassette transporters [HGNC:ABC] (821) 
 ATP-binding cassette transporters, subfamily C [HGNC:ABCC] (458) 
 ATP-binding cassette, sub-family C (CFTR/MRP), member 5 [HGNC:ABCC5] (40)
 ATP-binding cassette transporters, subfamily D [HGNC:ABCD] (21) 
 ATP-binding cassette, sub-family D (ALD), member 3 [HGNC:ABCD3] (20)
 ATP-binding cassette transporters, subfamily G [HGNC:ABCG] (184) 
 ATP-binding cassette, sub-family G (WHITE), member 1 [HGNC:ABCG1] (40)
 Basic helix-loop-helix [HGNC:BHLH] (618) 
 hairy and enhancer of split 1 (Drosophila) [HGNC:HES1] (41)
 inhibitor of DNA binding 3, dominant negative helix-loop-helix protein [HGNC:ID3] (47)
 MAX interactor 1, dimerization protein [HGNC:MXI1] (19)
 MYC associated factor X [HGNC:MAX] (14)
 nuclear receptor coactivator 1 [HGNC:NCOA1] (71)
 nuclear receptor coactivator 2 [HGNC:NCOA2] (50)
 nuclear receptor coactivator 3 [HGNC:NCOA3] (42)
 twist basic helix-loop-helix transcription factor 1 [HGNC:TWIST1] (19)
 v-myc avian myelocytomatosis viral oncogene homolog [HGNC:MYC] (254)
 Basic leucine zipper proteins [HGNC:bZIP] (670) 
 CCAAT/enhancer binding protein (C/EBP), delta [HGNC:CEBPD] (51)
 FBJ murine osteosarcoma viral oncogene homolog [HGNC:FOS] (277)
 jun B proto-oncogene [HGNC:JUNB] (59)
 jun proto-oncogene [HGNC:JUN] (290)
 Blood group antigens [HGNC:blood-group] (97) 
 CD0055 molecule, decay accelerating factor for complement (Cromer blood group) [HGNC:CD55] (38)
 BTB domain containing [HGNC:BTBD] (83) 
 influenza virus NS1A binding protein [HGNC:IVNS1ABP] (12)
 kelch-like family member 5 [HGNC:KLHL5] (13)
 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 [HGNC:RCBTB1] (11)
 tumor necrosis factor, alpha-induced protein 1 (endothelial) [HGNC:TNFAIP1] (5)
 Cadherins [HGNC:CDH] (214) 
 Cadherins, major [HGNC:MCDH] (189) 
 cadherin, EGF LAG seven-pass G-type receptor 2 [HGNC:CELSR2] (15)
 desmocollin 2 [HGNC:DSC2] (16)
 Cadherins, related [HGNC:CDHR] (55) 
 ret proto-oncogene [HGNC:RET] (37)
 S100 calcium binding proteins [HGNC:S100] (110) 
 S100 calcium binding protein A06 [HGNC:S100A6] (33)
 S100 calcium binding protein A10 [HGNC:S100A10] (31)
 Cathepsins [HGNC:CTS] (135) 
 cathepsin B [HGNC:CTSB] (48)
 cathepsin C [HGNC:CTSC] (19)
 cathepsin H [HGNC:CTSH] (25)
 CD molecules [HGNC:CD] (1459) 
 5'-nucleotidase, ecto (CD73) [HGNC:NT5E] (24)
 atypical chemokine receptor 3 [HGNC:ACKR3] (35)
 CD055 molecule, decay accelerating factor for complement (Cromer blood group) [HGNC:CD55] (38)
 CD320 molecule [HGNC:CD320] (5)
 fibroblast growth factor receptor 1 [HGNC:FGFR1] (43)
 hyaluronan-mediated motility receptor (RHAMM) [HGNC:HMMR] (41)
 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) [HGNC:ITGA2] (42)
 interleukin 01 receptor, type I [HGNC:IL1R1] (52)
 interleukin 06 signal transducer (gp130, oncostatin M receptor) [HGNC:IL6ST] (38)
 L1 cell adhesion molecule [HGNC:L1CAM] (22)
 leptin receptor [HGNC:LEPR] (17)
 melanoma cell adhesion molecule [HGNC:MCAM] (21)
 solute carrier family 07 (amino acid transporter light chain, L system), member 05 [HGNC:SLC7A5] (51)
 transferrin receptor (p90, CD71) [HGNC:TFRC] (84)
 tumor necrosis factor receptor superfamily, member 12A [HGNC:TNFRSF12A] (39)
 tumor necrosis factor receptor superfamily, member 21 [HGNC:TNFRSF21] (36)
 v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 [HGNC:ERBB2] (109)
 Chemokine receptors [HGNC:CR] (207) 
 Atypical chemokine receptors [HGNC:ACKR] (41) 
 atypical chemokine receptor 3 [HGNC:ACKR3] (35)
 Cholinergic receptors [HGNC:CHR] (184) 
 cholinergic receptor, nicotinic, alpha 5 (neuronal) [HGNC:CHRNA5] (22)
 Claudins [HGNC:CLDN] (76) 
 claudin 01 [HGNC:CLDN1] (34)
 claudin 04 [HGNC:CLDN4] (30)
 Collagens [HGNC:COL] (230) 
 collagen, type XXI, alpha 1 [HGNC:COL21A1] (8)
 Components of oligomeric golgi complex [HGNC:COG] (23) 
 component of oligomeric golgi complex 4 [HGNC:COG4] (7)
 component of oligomeric golgi complex 5 [HGNC:COG5] (10)
 Coronins [HGNC:CORO] (22) 
 coronin, actin binding protein, 1C [HGNC:CORO1C] (15)
 Cyclin-dependent kinases [HGNC:CDK] (338) 
 cyclin-dependent kinase 01 [HGNC:CDK1] (151)
 cyclin-dependent kinase-like 05 [HGNC:CDKL5] (7)
 Cytochrome P450s [HGNC:CYP] (1673) 
 cytochrome P450, family 01, subfamily B, polypeptide 01 [HGNC:CYP1B1] (301)
 DEAD-boxes [HGNC:DDX] (48) 
 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 [HGNC:DDX11] (9)
 DNA polymerases [HGNC:POL] (47) 
 polymerase (DNA directed), delta 1, catalytic subunit [HGNC:POLD1] (16)
 polymerase (DNA directed), epsilon, catalytic subunit [HGNC:POLE] (9)
 polymerase (DNA-directed), delta 3, accessory subunit [HGNC:POLD3] (16)
 EF-hand domain containing [HGNC:EFHAND] (226) 
 EF-hand domain family, member D1 [HGNC:EFHD1] (13)
 glycerol-3-phosphate dehydrogenase 2 (mitochondrial) [HGNC:GPD2] (7)
 RAS guanyl releasing protein 1 (calcium and DAG-regulated) [HGNC:RASGRP1] (27)
 S100 calcium binding protein A06 [HGNC:S100A6] (33)
 Endogenous Ligands [HGNC:ENDOLIG] (1191) 
 chemokine (C-X-C motif) ligand 12 [HGNC:CXCL12] (70)
 endothelin 1 [HGNC:EDN1] (119)
 galanin/GMAP prepropeptide [HGNC:GAL] (26)
 Ephrins [HGNC:EFN] (55) 
 ephrin-A1 [HGNC:EFNA1] (32)
 ephrin-B2 [HGNC:EFNB2] (32)
 Exostosin glycosyltransferase family [HGNC:EXT] (22) 
 exostosin glycosyltransferase 1 [HGNC:EXT1] (18)
 Fanconi anemia, complementation groups [HGNC:FANC] (81) 
 Fanconi anemia, complementation group A [HGNC:FANCA] (18)
 Fanconi anemia, complementation group D2 [HGNC:FANCD2] (20)
 Fanconi anemia, complementation group G [HGNC:FANCG] (25)
 Fanconi anemia, complementation group I [HGNC:FANCI] (28)
 Fanconi anemia, complementation group L [HGNC:FANCL] (21)
 RAD51 paralog C [HGNC:RAD51C] (30)
 Fatty acid binding protein family [HGNC:FABP] (151) 
 fatty acid binding protein 5 (psoriasis-associated) [HGNC:FABP5] (29)
 Fatty acid desaturases [HGNC:FADS] (108) 
 fatty acid desaturase 1 [HGNC:FADS1] (31)
 stearoyl-CoA desaturase (delta-9-desaturase) [HGNC:SCD] (78)
 Fibronectin type III domain containing [HGNC:FN3] (399) 
 fibronectin type III domain containing 3B [HGNC:FNDC3B] (15)
 interleukin 06 signal transducer (gp130, oncostatin M receptor) [HGNC:IL6ST] (38)
 L1 cell adhesion molecule [HGNC:L1CAM] (22)
 neuronal cell adhesion molecule [HGNC:NRCAM] (17)
 protein tyrosine phosphatase, receptor type, F [HGNC:PTPRF] (20)
 protein tyrosine phosphatase, receptor type, K [HGNC:PTPRK] (24)
 Fibulins [HGNC:FBLN] (53) 
 EGF containing fibulin-like extracellular matrix protein 1 [HGNC:EFEMP1] (24)
 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)
 Forkhead boxes [HGNC:FOX] (139) 
 forkhead box M1 [HGNC:FOXM1] (33)
 forkhead box P2 [HGNC:FOXP2] (12)
 Frizzled receptors [HGNC:FZD] (42) 
 frizzled family receptor 2 [HGNC:FZD2] (22)
 GATA zinc finger domain containing [HGNC:GATAD] (101) 
 GATA binding protein 2 [HGNC:GATA2] (33)
 GATA binding protein 3 [HGNC:GATA3] (24)
 G patch domain containing [HGNC:GPATCH] (46) 
 RNA binding motif protein 10 [HGNC:RBM10] (6)
 G protein-coupled receptors [HGNC:GPCR] (66) 
 GPCR class B, orphans [HGNC:GPCRBO] (50) 
 cadherin, EGF LAG seven-pass G-type receptor 2 [HGNC:CELSR2] (15)
 Heat shock proteins [HGNC:HSP] (390) 
 Heat shock proteins, HSP70 [HGNC:HSP70] (294) 
 heat shock 70kDa protein 09 (mortalin) [HGNC:HSPA9] (40)
 Heat shock proteins, DNAJ (HSP40) [HGNC:DNAJ] (88) 
 spastic ataxia of Charlevoix-Saguenay (sacsin) [HGNC:SACS] (19)
 Heat shock proteins, HSPC (HSP90) [HGNC:HSP90] (119) 
 heat shock protein 90kDa beta (Grp94), member 1 [HGNC:HSP90B1] (53)
 High mobility group [HGNC:HMG] (101) 
 High mobility group, Canonical [HGNC:HMG] (98) 
 high mobility group AT-hook 1 [HGNC:HMGA1] (34)
 high mobility group box 1 [HGNC:HMGB1] (48)
 high mobility group box 2 [HGNC:HMGB2] (37)
 Histones [HGNC:HIST] (173) 
 Histones, Replication-independent [HGNC:RIH] (148) 
 H2A histone family, member X [HGNC:H2AFX] (129)
 H3 histone, family 3B (H3.3B) [HGNC:H3F3B] (13)
 Histones, Replication-dependent [HGNC:HIST] (59) 
 histone cluster 1, H1c [HGNC:HIST1H1C] (40)
 histone cluster 1, H2bc [HGNC:HIST1H2BC] (14)
 histone cluster 1, H2bk [HGNC:HIST1H2BK] (21)
 Homeoboxes [HGNC:homeobox] (219) 
 Homeoboxes, ANTP class [HGNC:HOXL] (152) 
 NKL subclass homeoboxes [HGNC:NKL] (109) 
 distal-less homeobox 2 [HGNC:DLX2] (23)
 msh homeobox 2 [HGNC:MSX2] (11)
 Homeoboxes, CUT class [HGNC:CUT] (14) 
 SATB homeobox 2 [HGNC:SATB2] (14)
 Homeoboxes, LIM class [HGNC:LIM] (23) 
 LIM homeobox 2 [HGNC:LHX2] (9)
 Homeoboxes, TALE class [HGNC:TALE] (72) 
 pre-B-cell leukemia homeobox 1 [HGNC:PBX1] (24)
 TGFB-induced factor homeobox 1 [HGNC:TGIF1] (37)
 Immunoglobulin superfamily domain containing [HGNC:IGSF] (761) 
 V-set domain containing [HGNC:VSET] (188) 
 melanoma cell adhesion molecule [HGNC:MCAM] (21)
 C1-set domain containing [HGNC:C1SET] (121) 
 MHC class I polypeptide-related sequence B [HGNC:MICB] (14)
 C2-set domain containing [HGNC:C2SET] (225) 
 melanoma cell adhesion molecule [HGNC:MCAM] (21)
 I-set domain containing [HGNC:ISET] (447) 
 fibroblast growth factor receptor 1 [HGNC:FGFR1] (43)
 interleukin 01 receptor, type I [HGNC:IL1R1] (52)
 L1 cell adhesion molecule [HGNC:L1CAM] (22)
 neuronal cell adhesion molecule [HGNC:NRCAM] (17)
 obscurin-like 1 [HGNC:OBSL1] (12)
 protein tyrosine phosphatase, receptor type, F [HGNC:PTPRF] (20)
 sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C [HGNC:SEMA3C] (20)
 Immunoglobulin-like domain containing [HGNC:IGD] (645) 
 interleukin 01 receptor, type I [HGNC:IL1R1] (52)
 leptin receptor [HGNC:LEPR] (17)
 melanoma cell adhesion molecule [HGNC:MCAM] (21)
 neuronal cell adhesion molecule [HGNC:NRCAM] (17)
 obscurin-like 1 [HGNC:OBSL1] (12)
 protein tyrosine phosphatase, receptor type, K [HGNC:PTPRK] (24)
 Importins [HGNC:IPO] (35) 
 importin 11 [HGNC:IPO11] (11)
 Integrins [HGNC:ITG] (284) 
 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) [HGNC:ITGA2] (42)
 Interleukins and interleukin receptors [HGNC:IL] (1294) 
 interleukin 01 receptor, type I [HGNC:IL1R1] (52)
 interleukin 02 [HGNC:IL2] (144)
 interleukin 06 signal transducer (gp130, oncostatin M receptor) [HGNC:IL6ST] (38)
 interleukin 20 [HGNC:IL20] (3)
 Intermediate filaments [HGNC:IF] (273) 
 Type V. Lamins [HGNC:] (81) 
 lamin B1 [HGNC:LMNB1] (50)
 lamin B2 [HGNC:LMNB2] (17)
 Intraflagellar transport homologs [HGNC:IFT] (19) 
 intraflagellar transport 122 homolog (Chlamydomonas) [HGNC:IFT122] (8)
 IP3 receptors [HGNC:ITPR] (60) 
 inositol 1,4,5-trisphosphate receptor, type 1 [HGNC:ITPR1] (44)
 K-acetyltransferases [HGNC:KAT] (176) 
 K(lysine) acetyltransferase 6A [HGNC:KAT6A] (6)
 nuclear receptor coactivator 1 [HGNC:NCOA1] (71)
 nuclear receptor coactivator 2 [HGNC:NCOA2] (50)
 nuclear receptor coactivator 3 [HGNC:NCOA3] (42)
 K-demethylases [HGNC:KDM] (47) 
 lysine (K)-specific demethylase 1A [HGNC:KDM1A] (15)
 K-methyltransferases [HGNC:KMT] (101) 
 enhancer of zeste homolog 2 (Drosophila) [HGNC:EZH2] (32)
 euchromatic histone-lysine N-methyltransferase 1 [HGNC:EHMT1] (11)
 lysine (K)-specific methyltransferase 2D [HGNC:KMT2D] (5)
 lysine (K)-specific methyltransferase 2E [HGNC:KMT2E] (7)
 Kelch-like [HGNC:KLHL] (73) 
 influenza virus NS1A binding protein [HGNC:IVNS1ABP] (12)
 kelch-like family member 5 [HGNC:KLHL5] (13)
 Kinesins [HGNC:KIF] (68) 
 kinesin family member 05C [HGNC:KIF5C] (12)
 kinesin family member 11 [HGNC:KIF11] (29)
 Kruppel-like transcription factors [HGNC:KLF] (106) 
 Kruppel-like factor 04 (gut) [HGNC:KLF4] (49)
 Kruppel-like factor 06 [HGNC:KLF6] (56)
 Kruppel-like factor 12 [HGNC:KLF12] (12)
 Lectins, galactoside-binding [HGNC:LGALS] (92) 
 lectin, galactoside-binding, soluble, 1 [HGNC:LGALS1] (53)
 MAX dimerization proteins [HGNC:MXD] (65) 
 MAX interactor 1, dimerization protein [HGNC:MXI1] (19)
 Mitochondrial respiratory chain complex [HGNC:mitocomplex] (132) 
 Mitochondrial complex I: NADH dehydrogenase (ubiquinone) subunits [HGNC:comI] (65) 
 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) [HGNC:NDUFS8] (12)
 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa [HGNC:NDUFV1] (12)
 Mitochondrial ribosomal proteins [HGNC:MRP] (52) 
 Mitochondrial ribosomal proteins, large subunits [HGNC:MRPL] (52) 
 mitochondrial ribosomal protein S06 [HGNC:MRPS6] (22)
 Myocyte enhancer factors [HGNC:MEF2] (41) 
 myocyte enhancer factor 2A [HGNC:MEF2A] (19)
 Myosins [HGNC:myosin] (111) 
 Myosins, class I [HGNC:MYOI] (30) 
 myosin IB [HGNC:MYO1B] (20)
 Myosins, class II [HGNC:MYHII] (61) 
 myosin, heavy chain 14, non-muscle [HGNC:MYH14] (6)
 Myosins, class V [HGNC:MYOV] (27) 
 myosin VA (heavy chain 12, myoxin) [HGNC:MYO5A] (17)
 myosin VB [HGNC:MYO5B] (10)
 Myosins, class VI [HGNC:MYOVI] (20) 
 myosin VI [HGNC:MYO6] (20)
 Neuropeptide receptors [HGNC:NPR] (30) 
 Neuropeptide S receptors [HGNC:NPSR] (22) 
 neuropeptide Y receptor Y1 [HGNC:NPY1R] (18)
 Nuclear hormone receptors [HGNC:NR] (1322) 
 estrogen receptor 1 [HGNC:ESR1] (506)
 estrogen receptor 2 (ER beta) [HGNC:ESR2] (261)
 nuclear receptor subfamily 2, group F, member 2 [HGNC:NR2F2] (22)
 nuclear receptor subfamily 2, group F, member 6 [HGNC:NR2F6] (16)
 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) [HGNC:NR3C1] (138)
 nuclear receptor subfamily 4, group A, member 2 [HGNC:NR4A2] (48)
 progesterone receptor [HGNC:PGR] (209)
 Parkinson disease [HGNC:PARK] (136) 
 PTEN induced putative kinase 1 [HGNC:PINK1] (13)
 Parvins [HGNC:PARV] (6) 
 parvin, alpha [HGNC:PARVA] (6)
 PHD-type zinc fingers [HGNC:PHF] (103) 
 Fanconi anemia, complementation group L [HGNC:FANCL] (21)
 K(lysine) acetyltransferase 6A [HGNC:KAT6A] (6)
 lysine (K)-specific methyltransferase 2D [HGNC:KMT2D] (5)
 lysine (K)-specific methyltransferase 2E [HGNC:KMT2E] (7)
 transcription factor 19 [HGNC:TCF19] (22)
 Wolf-Hirschhorn syndrome candidate 1 [HGNC:WHSC1] (17)
 Pleckstrin homology (PH) domain containing [HGNC:PLEKH] (227) 
 A kinase (PRKA) anchor protein 13 [HGNC:AKAP13] (18)
 insulin receptor substrate 1 [HGNC:IRS1] (47)
 insulin receptor substrate 2 [HGNC:IRS2] (29)
 pleckstrin and Sec7 domain containing 3 [HGNC:PSD3] (21)
 pleckstrin homology-like domain, family A, member 2 [HGNC:PHLDA2] (42)
 RAS p21 protein activator (GTPase activating protein) 1 [HGNC:RASA1] (18)
 Rho-associated, coiled-coil containing protein kinase 2 [HGNC:ROCK2] (16)
 TRIO and F-actin binding protein [HGNC:TRIOBP] (16)
 Poly (ADP-ribose) polymerases [HGNC:PARP] (56) 
 poly (ADP-ribose) polymerase 2 [HGNC:PARP2] (17)
 Potassium channels [HGNC:KCN] (298) 
 Potassium channels, two-P [HGNC:KCNK] (40) 
 potassium channel, subfamily K, member 05 [HGNC:KCNK5] (13)
 Protease activated receptors [HGNC:F2R] (81) 
 coagulation factor II (thrombin) receptor [HGNC:F2R] (49)
 coagulation factor II (thrombin) receptor-like 1 [HGNC:F2RL1] (38)
 Proteasome (prosome, macropain) subunits [HGNC:PSM] (98) 
 proteasome (prosome, macropain) 26S subunit, ATPase, 3 [HGNC:PSMC3] (15)
 proteasome (prosome, macropain) activator subunit 2 (PA28 beta) [HGNC:PSME2] (7)
 PSMC3 interacting protein [HGNC:PSMC3IP] (16)
 Protein disulfide isomerases [HGNC:PDI] (87) 
 anterior gradient 2 [HGNC:AGR2] (37)
 prolyl 4-hydroxylase, beta polypeptide [HGNC:P4HB] (28)
 protein disulfide isomerase family A, member 3 [HGNC:PDIA3] (29)
 Protein phosphatase, catalytic and regulatory subunits [HGNC:PPP-PPM-CTD] (225) 
 Protein phosphatase 1, regulatory subunits [HGNC:PPP1R] (155) 
 aurora kinase A [HGNC:AURKA] (52)
 aurora kinase B [HGNC:AURKB] (47)
 cancer susceptibility candidate 5 [HGNC:CASC5] (15)
 Protein phosphatase 2, regulatory subunits [HGNC:PPP2R] (69) 
 protein phosphatase 2, regulatory subunit B, alpha [HGNC:PPP2R2A] (14)
 Protein phosphatases, Mg2+/Mn2+ dependent [HGNC:PPM] (58) 
 protein phosphatase, Mg2+/Mn2+ dependent, 1E [HGNC:PPM1E] (6)
 pyruvate dehyrogenase phosphatase catalytic subunit 1 [HGNC:PDP1] (19)
 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 01 [HGNC:PTPN1] (22)
 Class I Cys-based PTPs : Transmembrane receptor-like [HGNC:PTPR] (69) 
 protein tyrosine phosphatase, receptor type, F [HGNC:PTPRF] (20)
 protein tyrosine phosphatase, receptor type, K [HGNC:PTPRK] (24)
 Class I Cys-based PTPs : PTENs [HGNC:DUSPQ] (91) 
 phosphatase and tensin homolog [HGNC:PTEN] (91)
 Class I Cys-based PTPs : MAP kinase phosphatases [HGNC:DUSPT] (127) 
 dual specificity phosphatase 01 [HGNC:DUSP1] (91)
 dual specificity phosphatase 10 [HGNC:DUSP10] (34)
 Protocadherins [HGNC:PCDH] (22) 
 Protocadherins, non-clustered [HGNC:PCDHN] (22) 
 protocadherin 10 [HGNC:PCDH10] (7)
 RAB, member RAS oncogene [HGNC:RAB] (69) 
 RAB08A, member RAS oncogene family [HGNC:RAB8A] (13)
 RAB32, member RAS oncogene family [HGNC:RAB32] (16)
 Regulators of G-protein signaling [HGNC:RGS] (98) 
 regulator of G-protein signaling 02, 24kDa [HGNC:RGS2] (44)
 Rho GTPase activating proteins [HGNC:ARHGAP] (76) 
 chimerin 1 [HGNC:CHN1] (11)
 Rho guanine nucleotide exchange factors [HGNC:ARHGEF] (105) 
 A kinase (PRKA) anchor protein 13 [HGNC:AKAP13] (18)
 amyotrophic lateral sclerosis 2 (juvenile) [HGNC:ALS2] (13)
 RNA binding motif containing [HGNC:RRM] (251) 
 Aly/REF export factor [HGNC:ALYREF] (3)
 heterogeneous nuclear ribonucleoprotein H1 (H) [HGNC:HNRNPH1] (24)
 polypyrimidine tract binding protein 1 [HGNC:PTBP1] (13)
 RNA binding motif protein 10 [HGNC:RBM10] (6)
 RNA binding protein, fox-1 homolog (C. elegans) 2 [HGNC:RBFOX2] (11)
 serine/arginine-rich splicing factor 10 [HGNC:SRSF10] (12)
 L ribosomal proteins [HGNC:RPL] (79) 
 ribosomal protein L31 [HGNC:RPL31] (16)
 Semaphorins [HGNC:SEMA] (46) 
 sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C [HGNC:SEMA3C] (20)
 Serine/arginine-rich splicing factors [HGNC:SRSF] (62) 
 serine/arginine-rich splicing factor 10 [HGNC:SRSF10] (12)
 Serine peptidases [HGNC:PRSS] (133) 
 Serine peptidases, serine peptidases [HGNC:TMPRSS] (86) 
 protease, serine, 08 [HGNC:PRSS8] (16)
 Serine peptidases, transmembrane [HGNC:TMPRSS] (75) 
 transmembrane protease, serine 03 [HGNC:TMPRSS3] (12)
 SH2 domain containing [HGNC:SH2D] (431) 
 B-cell linker [HGNC:BLNK] (15)
 breast cancer anti-estrogen resistance 3 [HGNC:BCAR3] (25)
 chimerin 1 [HGNC:CHN1] (11)
 RAS p21 protein activator (GTPase activating protein) 1 [HGNC:RASA1] (18)
 signal transducer and activator of transcription 3 (acute-phase response factor) [HGNC:STAT3] (145)
 suppressor of cytokine signaling 2 [HGNC:SOCS2] (31)
 v-yes-1 Yamaguchi sarcoma viral related oncogene homolog [HGNC:LYN] (39)
 Short chain dehydrogenase/reductase superfamily [HGNC:SDR] (302) 
 Short chain dehydrogenase/reductase superfamily, Classical fold cluster 2 [HGNC:SDRC2] (140) 
 hydroxysteroid (17-beta) dehydrogenase 06 [HGNC:HSD17B6] (15)
 SKI transcriptional corepressors [HGNC:SKOR] (22) 
 SKI-like oncogene [HGNC:SKIL] (15)
 SMADs [HGNC:SMAD] (84) 
 SMAD family member 2 [HGNC:SMAD2] (33)
 SMAD family member 3 [HGNC:SMAD3] (40)
 Solute carriers [HGNC:SLC] (716) 
 solute carrier family 05 (sodium/myo-inositol cotransporter), member 3 [HGNC:SLC5A3] (16)
 solute carrier family 06 (amino acid transporter), member 14 [HGNC:SLC6A14] (18)
 solute carrier family 07 (cationic amino acid transporter, y+ system), member 01 [HGNC:SLC7A1] (23)
 solute carrier family 07 (amino acid transporter light chain, L system), member 05 [HGNC:SLC7A5] (51)
 solute carrier family 07 (anionic amino acid transporter light chain, xc- system), member 11 [HGNC:SLC7A11] (77)
 solute carrier family 12 (sodium/potassium/chloride transporter), member 2 [HGNC:SLC12A2] (26)
 solute carrier family 17 (acidic sugar transporter), member 5 [HGNC:SLC17A5] (15)
 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 [HGNC:SLC25A15] (13)
 solute carrier family 25 (mitochondrial iron transporter), member 37 [HGNC:SLC25A37] (15)
 solute carrier family 26 (anion exchanger), member 2 [HGNC:SLC26A2] (24)
 solute carrier family 29 (equilibrative nucleoside transporter), member 1 [HGNC:SLC29A1] (34)
 solute carrier family 30 (zinc transporter), member 1 [HGNC:SLC30A1] (46)
 solute carrier family 31 (copper transporter), member 1 [HGNC:SLC31A1] (35)
 solute carrier family 37 (glucose-6-phosphate transporter), member 4 [HGNC:SLC37A4] (15)
 solute carrier family 39 (zinc transporter), member 04 [HGNC:SLC39A4] (17)
 SRY (sex determining region Y)-boxes [HGNC:SOX] (95) 
 SRY (sex determining region Y)-box 03 [HGNC:SOX3] (8)
 SRY (sex determining region Y)-box 04 [HGNC:SOX4] (39)
 SRY (sex determining region Y)-box 09 [HGNC:SOX9] (39)
 Sterile alpha motif (SAM) containing [HGNC:SAMD] (92) 
 sterile alpha motif domain containing 4A [HGNC:SAMD4A] (17)
 Structural maintenance of chromosomes proteins [HGNC:SMC] (44) 
 structural maintenance of chromosomes 1A [HGNC:SMC1A] (20)
 structural maintenance of chromosomes 2 [HGNC:SMC2] (25)
 Sulfotransferases, cytosolic [HGNC:SULT] (167) 
 sulfotransferase family, cytosolic, 2B, member 1 [HGNC:SULT2B1] (10)
 Suppressors of cytokine signaling [HGNC:SOCS] (82) 
 suppressor of cytokine signaling 2 [HGNC:SOCS2] (31)
 Tetratricopeptide repeat domain containing [HGNC:TTC] (153) 
 FK506 binding protein 05 [HGNC:FKBP5] (46)
 FK506 binding protein like [HGNC:FKBPL] (9)
 G-protein signaling modulator 2 [HGNC:GPSM2] (27)
 interferon-induced protein with tetratricopeptide repeats 2 [HGNC:IFIT2] (31)
 nephronophthisis 3 (adolescent) [HGNC:NPHP3] (4)
 tetratricopeptide repeat domain 09 [HGNC:TTC9] (10)
 THO complex [HGNC:THOC] (3) 
 Aly/REF export factor [HGNC:ALYREF] (3)
 Trafficking protein particle complex [HGNC:TRAPPC] (14) 
 trafficking protein particle complex 02 [HGNC:TRAPPC2] (3)
 Tropomyosins [HGNC:TPM] (66) 
 tropomyosin 1 (alpha) [HGNC:TPM1] (32)
 Tubulins [HGNC:TUB] (87) 
 tubulin, beta 2A class IIa [HGNC:TUBB2A] (21)
 tubulin, gamma 1 [HGNC:TUBG1] (13)
 Tudor domain containing [HGNC:TDRD] (64) 
 lamin B receptor [HGNC:LBR] (14)
 Tumor necrosis factor receptor superfamily [HGNC:TNFRSF] (295) 
 tumor necrosis factor receptor superfamily, member 12A [HGNC:TNFRSF12A] (39)
 tumor necrosis factor receptor superfamily, member 21 [HGNC:TNFRSF21] (36)
 Ubiquitin-conjugating enzymes E2 [HGNC:UBE2] (97) 
 ubiquitin-conjugating enzyme E2H [HGNC:UBE2H] (17)
 ubiquitin-conjugating enzyme E2N [HGNC:UBE2N] (11)
 UDP glucuronosyltransferases [HGNC:UGT] (298) 
 UDP glucuronosyltransferase 1 family, polypeptide A1 [HGNC:UGT1A1] (167)
 UDP glucuronosyltransferase 1 family, polypeptide A9 [HGNC:UGT1A9] (108)
 UDP glucuronosyltransferase 2 family, polypeptide B15 [HGNC:UGT2B15] (85)
 Vasopressin/Oxytocin receptors [HGNC:AVPR] (19) 
 oxytocin receptor [HGNC:OXTR] (19)
 Voltage-dependent anion channels [HGNC:VDAC] (33) 
 voltage-dependent anion channel 1 [HGNC:VDAC1] (19)
 WD repeat domain containing [HGNC:WDR] (199) 
 achalasia, adrenocortical insufficiency, alacrimia [HGNC:AAAS] (5)
 bromodomain and WD repeat domain containing 1 [HGNC:BRWD1] (7)
 chromatin assembly factor 1, subunit B (p60) [HGNC:CHAF1B] (16)
 coronin, actin binding protein, 1C [HGNC:CORO1C] (15)
 damage-specific DNA binding protein 2, 48kDa [HGNC:DDB2] (35)
 Dmx-like 1 [HGNC:DMXL1] (14)
 intraflagellar transport 122 homolog (Chlamydomonas) [HGNC:IFT122] (8)
 neurobeachin [HGNC:NBEA] (10)
 protein phosphatase 2, regulatory subunit B, alpha [HGNC:PPP2R2A] (14)
 PRP4 pre-mRNA processing factor 4 homolog (yeast) [HGNC:PRPF4] (9)
 transducin (beta)-like 1X-linked [HGNC:TBL1X] (19)
 WD repeat domain, phosphoinositide interacting 1 [HGNC:WIPI1] (42)
 ZINC FINGERS [HGNC:ZNF] (383) 
 Zinc fingers, C2H2-type [HGNC:ZNF] (349) 
 early growth response 1 [HGNC:EGR1] (140)
 early growth response 3 [HGNC:EGR3] (37)
 Kruppel-like factor 04 (gut) [HGNC:KLF4] (49)
 Kruppel-like factor 06 [HGNC:KLF6] (56)
 Kruppel-like factor 12 [HGNC:KLF12] (12)
 MYC-associated zinc finger protein (purine-binding transcription factor) [HGNC:MAZ] (12)
 sal-like 4 (Drosophila) [HGNC:SALL4] (6)
 Zinc fingers, C2H2-type with KRAB domain [HGNC:ZKRAB] (42) 
 zinc finger protein 160 [HGNC:ZNF160] (5)
 Other zinc fingers [HGNC:] (148) 
 Zinc fingers, CCCH-type [HGNC:ZC3H] (17) 
 zinc finger CCCH-type containing 12A [HGNC:ZC3H12A] (12)
 Zinc fingers, MIZ-type [HGNC:ZMIZ ] (33) 
 zinc finger, MIZ-type containing 1 [HGNC:ZMIZ1] (19)
 Zinc fingers, RAN binding-type [HGNC:ZRANB] (13) 
 RNA binding motif protein 10 [HGNC:RBM10] (6)
2. Interaction: Human Genes and Chemicals 
2. Interaction: Human Genes and Chemicals
 Affects (3990) 
 binding (2423)
 cotreatment (1499)
 reaction (624)
 response to substance (623)
 Decreases (5154) 
 expression (2187)
 reaction (3393)
 Increases (5571) 
 activity (2865)
 expression (3238)
 glucuronidation (189)
 reaction (1574)
A. Anatomy 
A. Anatomy
 Body Regions [MESH:D001829] (867) 
 Extremities [MESH:D005121] (484) 
 Upper Extremity [MESH:D034941] (441) 
 Hand [MESH:D006225] (428) 
 Fingers [MESH:D005385] (422) 
 Popliteal Pterygium Syndrome [MESH:C562509] (33)
 Head [MESH:D006257] (523) 
 Ear [MESH:D004423] (236) 
 Meier-Gorlin syndrome [MESH:C538012] (133)
 Face [MESH:D005145] (387) 
 Kabuki syndrome [MESH:C537705] (9)
 Eye [MESH:D005123] (148) 
 Eyelids [MESH:D005143] (143) 
 Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42)
 Mouth [MESH:D009055] (40) 
 Lip [MESH:D008046] (39) 
 Van der Woude syndrome [MESH:C536528] (33)
 Musculoskeletal System [MESH:D009141] (1255) 
 Skeleton [MESH:D012863] (1177) 
 Bone and Bones [MESH:D001842] (1112) 
 Cranioectodermal Dysplasia [MESH:C562966] (16)
 Bones of Lower Extremity [MESH:D050281] (278) 
 Leg Bones [MESH:D007867] (228) 
 Patella [MESH:D010329] (168) 
 Rapadilino syndrome [MESH:C535288] (30)
 Epiphyseal dysplasia, multiple, 4 [MESH:C535504] (34)
 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)
 Epiphyses [MESH:D004838] (98) 
 Wolcott-Rallison syndrome [MESH:C536739] (92)
 Spine [MESH:D013131] (258) 
 VACTERL hydrocephaly [MESH:C536521] (151)
 Joints [MESH:D007596] (126) 
 Knee Joint [MESH:D007719] (38) 
 Popliteal Pterygium Syndrome [MESH:C562509] (33)
 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)
 VACTERL hydrocephaly [MESH:C536521] (151)
 Lower Gastrointestinal Tract [MESH:D041741] (254) 
 Intestine, Large [MESH:D007420] (247) 
 Anal Canal [MESH:D001003] (217) 
 Rapadilino syndrome [MESH:C535288] (30)
 VACTERL hydrocephaly [MESH:C536521] (151)
 Upper Gastrointestinal Tract [MESH:D041742] (236) 
 Esophagus [MESH:D004947] (200) 
 VACTERL hydrocephaly [MESH:C536521] (151)
 Respiratory System [MESH:D012137] (321) 
 Trachea [MESH:D014132] (190) 
 VACTERL hydrocephaly [MESH:C536521] (151)
 Urogenital System [MESH:D014566] (986) 
 Genitalia [MESH:D005835] (400) 
 Genitalia, Male [MESH:D005837] (297) 
 Testis [MESH:D013737] (92) 
 Sudden Infant Death with Dysgenesis of the Testes Syndrome [MESH:C563856] (16)
 Gonads [MESH:D006066] (91) 
 Testis [MESH:D013737] (86) 
 Sudden Infant Death with Dysgenesis of the Testes Syndrome [MESH:C563856] (16)
 Urinary Tract [MESH:D014551] (721) 
 Kidney [MESH:D007668] (707) 
 Hereditary renal agenesis [MESH:C536482] (89)
 VACTERL hydrocephaly [MESH:C536521] (151)
 Endocrine System [MESH:D004703] (206) 
 Endocrine Glands [MESH:D004702] (193) 
 Gonads [MESH:D006066] (99) 
 Testis [MESH:D013737] (87) 
 Sudden Infant Death with Dysgenesis of the Testes Syndrome [MESH:C563856] (16)
 Cardiovascular System [MESH:D002319] (1086) 
 Blood Vessels [MESH:D001808] (278) 
 Microvessels [MESH:D055806] (59) 
 Capillaries [MESH:D002196] (54) 
 Capillary Malformation-Arteriovenous Malformation [MESH:C564254] (50)
 Nervous System [MESH:D009420] (587) 
 Central Nervous System [MESH:D002490] (371) 
 Hydrolethalus Syndrome 1 [MESH:C565504] (14)
 Brain [MESH:D001921] (349) 
 Brain Stem [MESH:D001933] (120) 
 Mesencephalon [MESH:D008636] (52) 
 Tegmentum Mesencephali [MESH:D013681] (46) 
 Cerebral Aqueduct [MESH:D002535] (40) 
 Hydrocephalus, X-linked [MESH:C536078] (37)
 Cerebral Ventricles [MESH:D002552] (51) 
 Cerebral Aqueduct [MESH:D002535] (40) 
 Hydrocephalus, X-linked [MESH:C536078] (37)
 Mesencephalon [MESH:D008636] (52) 
 Tegmentum Mesencephali [MESH:D013681] (46) 
 Cerebral Aqueduct [MESH:D002535] (40) 
 Hydrocephalus, X-linked [MESH:C536078] (37)
 Sense Organs [MESH:D012679] (1060) 
 Ear [MESH:D004423] (323) 
 Meier-Gorlin syndrome [MESH:C538012] (133)
 Eye [MESH:D005123] (858) 
 Anterior Eye Segment [MESH:D000869] (664) 
 Peters anomaly [MESH:C537884] (465)
 Eyelids [MESH:D005143] (146) 
 Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42)
 Tissues [MESH:D014024] (397) 
 Connective Tissue [MESH:D003238] (173) 
 Bone and Bones [MESH:D001842] (149) 
 Cranioectodermal Dysplasia [MESH:C562966] (16)
 Cells [MESH:D002477] (1885) 
 Cellular Structures [MESH:D022082] (1562) 
 Cell Surface Extensions [MESH:D022081] (43) 
 Microvilli [MESH:D008871] (29) 
 Microvillus inclusion disease [MESH:C537470] (28)
 Chromosomes [MESH:D002875] (1300) 
 Chromosomes, Mammalian [MESH:D033481] (1282) 
 Chromosomes, Human [MESH:D002877] (1280) 
 Chromosomes, Human, 1-3 [MESH:D002900] (128) 
 Chromosomes, Human, Pair 3 [MESH:D002893] (90) 
 Chromosome 3, monosomy 3p25 [MESH:C536807] (76)
 Chromosomes, Human, 6-12 and X [MESH:D002906] (120) 
 Chromosomes, Human, Pair 9 [MESH:D002899] (40) 
 Kleefstra Syndrome [MESH:C563043] (25)
 Stomatognathic System [MESH:D013284] (673) 
 Mouth [MESH:D009055] (194) 
 Lip [MESH:D008046] (42) 
 Van der Woude syndrome [MESH:C536528] (33)
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)
 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)
 Sexually Transmitted Diseases, Bacterial [MESH:D015231] (1711) 
 Chlamydia Infections [MESH:D002690] (1693)
 Infection [MESH:D007239] (4109) 
 Arthritis, Infectious [MESH:D001170] (1702)
 Respiratory Tract Infections [MESH:D012141] (199)
 Intraabdominal Infections [MESH:D059413] (958) 
 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)
 Toxemia [MESH:D014115] (1290) 
 Endotoxemia [MESH:D019446] (1289)
C02. Virus Diseases 
C02. Virus Diseases
 Virus Diseases [MESH:D014777] (4544) 
 Arbovirus Infections [MESH:D001102] (150) 
 Dengue [MESH:D003715] (64) 
 Severe Dengue [MESH:D019595] (51)
 Central Nervous System Viral Diseases [MESH:D020805] (1416) 
 Meningitis, Viral [MESH:D008587] (1308) 
 Meningitis, Aseptic [MESH:D008582] (1305)
 DNA Virus Infections [MESH:D004266] (2474) 
 Herpesviridae Infections [MESH:D006566] (1944) 
 Epstein-Barr Virus Infections [MESH:D020031] (695) 
 Burkitt Lymphoma [MESH:D002051] (691)
 Sarcoma, Kaposi [MESH:D012514] (1578) 
 AIDS-related Kaposi sarcoma [MESH:C554498] (914)
 Hepatitis, Viral, Human [MESH:D006525] (1766) 
 Hepatitis C [MESH:D006526] (1627)
 Meningitis, Viral [MESH:D008587] (1308) 
 Meningitis, Aseptic [MESH:D008582] (1305)
 Opportunistic Infections [MESH:D009894] (949) 
 AIDS-Related Opportunistic Infections [MESH:D017088] (944) 
 AIDS-related Kaposi sarcoma [MESH:C554498] (914)
 RNA Virus Infections [MESH:D012327] (4215) 
 Arenaviridae Infections [MESH:D001117] (204)
 Flaviviridae Infections [MESH:D018178] (1656) 
 Hepatitis C [MESH:D006526] (1627)
 Flavivirus Infections [MESH:D018177] (159) 
 Dengue [MESH:D003715] (64) 
 Severe Dengue [MESH:D019595] (51)
 Hemorrhagic Fevers, Viral [MESH:D006482] (102) 
 Dengue [MESH:D003715] (64) 
 Severe Dengue [MESH:D019595] (51)
 Orthomyxoviridae Infections [MESH:D009976] (1077) 
 Influenza, Human [MESH:D007251] (1075)
 Picornaviridae Infections [MESH:D010850] (1672) 
 Cardiovirus Infections [MESH:D018188] (1548)
 Retroviridae Infections [MESH:D012192] (3420) 
 Lentivirus Infections [MESH:D016180] (3408) 
 HIV Infections [MESH:D015658] (3402) 
 Acquired Immunodeficiency Syndrome [MESH:D000163] (743)
 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 Wasting Syndrome [MESH:D019247] (1956)
 Slow Virus Diseases [MESH:D012897] (782) 
 Acquired Immunodeficiency Syndrome [MESH:D000163] (743)
 Tumor Virus Infections [MESH:D014412] (1069) 
 Epstein-Barr Virus Infections [MESH:D020031] (693) 
 Burkitt Lymphoma [MESH:D002051] (691)
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) 
 Malaria [MESH:D008288] (2175)
 Amebiasis [MESH:D000562] (1711) 
 Entamoebiasis [MESH:D004749] (1689)
 Euglenozoa Infections [MESH:D056986] (2552) 
 Leishmaniasis [MESH:D007896] (2541) 
 Leishmaniasis, Cutaneous [MESH:D016773] (2359)
 Leishmaniasis, Visceral [MESH:D007898] (2149)
 Skin Diseases, Parasitic [MESH:D012876] (2541) 
 Leishmaniasis [MESH:D007896] (2516) 
 Leishmaniasis, Cutaneous [MESH:D016773] (2359)
C04. Neoplasms 
C04. Neoplasms
 Neoplasms [MESH:D009369] (10293) 
 Cysts [MESH:D003560] (2625) 
 Van der Woude syndrome [MESH:C536528] (33)
 Follicular Cyst [MESH:D005497] (151)
 Arachnoid Cysts [MESH:D016080] (50) 
 Chudley-Mccullough syndrome [MESH:C535459] (45)
 Ovarian Cysts [MESH:D010048] (2534) 
 Polycystic Ovary Syndrome [MESH:D011085] (2186)
 Pancreatic Cyst [MESH:D010181] (18) 
 Renal hepatic pancreatic dysplasia Dandy Walker cyst [MESH:C537756] (11)
 Hamartoma [MESH:D006222] (1484) 
 Tuberous Sclerosis [MESH:D014402] (635)
 Hamartoma Syndrome, Multiple [MESH:D006223] (262) 
 Proteus Syndrome [MESH:D016715] (152)
 Neoplasms by Histologic Type [MESH:D009370] (8793) 
 Leukemia [MESH:D007938] (4576) 
 Leukemia, Lymphoid [MESH:D007945] (3047) 
 Leukemia, T-Cell [MESH:D015458] (395)
 Leukemia, B-Cell [MESH:D015448] (2564) 
 Leukemia, Lymphocytic, Chronic, B-Cell [MESH:D015451] (2562)
 Precursor Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054198] (1754) 
 Precursor B-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D015452] (354)
 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054218] (510)
 Leukemia, Myeloid [MESH:D007951] (2773) 
 Leukemia, Myelogenous, Chronic, BCR-ABL Positive [MESH:D015464] (1032)
 Leukemia, Myelomonocytic, Acute [MESH:D015479] (85)
 Leukemia, Myeloid, Acute [MESH:D015470] (2176) 
 Leukemia, Erythroblastic, Acute [MESH:D004915] (89)
 Leukemia, Megakaryoblastic, Acute [MESH:D007947] (279)
 Leukemia, Promyelocytic, Acute [MESH:D015473] (1367)
 Lymphatic Vessel Tumors [MESH:D018190] (171) 
 Lymphangiomyoma [MESH:D008203] (163) 
 Lymphangioleiomyomatosis [MESH:D018192] (162)
 Lymphoma [MESH:D008223] (3686) 
 Hodgkin Disease [MESH:D006689] (1082)
 Lymphoma, Non-Hodgkin [MESH:D008228] (3337) 
 Burkitt Lymphoma [MESH:D002051] (691)
 Lymphoma, Follicular [MESH:D008224] (1025)
 Lymphoma, Large-Cell, Anaplastic [MESH:D017728] (420)
 Lymphoma, B-Cell [MESH:D016393] (2624) 
 Burkitt Lymphoma [MESH:D002051] (691)
 Lymphoma, Large B-Cell, Diffuse [MESH:D016403] (2012)
 Lymphoma, T-Cell [MESH:D016399] (1405) 
 Lymphoma, Extranodal NK-T-Cell [MESH:D054391] (132)
 Lymphoma, Large-Cell, Anaplastic [MESH:D017728] (420)
 Neoplasms, Complex and Mixed [MESH:D018193] (1121) 
 Hepatoblastoma [MESH:D018197] (548)
 Wilms Tumor [MESH:D009396] (553)
 Pulmonary Blastoma [MESH:D018202] (38) 
 Pleuropulmonary blastoma [MESH:C537516] (37)
 Neoplasms, Connective and Soft Tissue [MESH:D018204] (4742) 
 Neoplasms, Adipose Tissue [MESH:D018205] (677) 
 Lipoma [MESH:D008067] (159)
 Neoplasms, Connective Tissue [MESH:D009372] (3626) 
 Gastrointestinal Stromal Tumors [MESH:D046152] (170)
 Sarcoma, Synovial [MESH:D013584] (993)
 Chondrosarcoma [MESH:D002813] (1217) 
 Chondrosarcoma, Mesenchymal [MESH:D018211] (1161)
 Neoplasms, Bone Tissue [MESH:D018213] (2217) 
 Osteosarcoma [MESH:D012516] (2175)
 Osteochondroma [MESH:D015831] (157) 
 Osteochondromatosis [MESH:D018216] (155) 
 Exostoses, Multiple Hereditary [MESH:D005097] (154)
 Neoplasms, Fibrous Tissue [MESH:D018218] (1720) 
 Fibroma [MESH:D005350] (1578) 
 Fibromatosis, Aggressive [MESH:D018222] (1562)
 Neoplasms, Muscle Tissue [MESH:D009379] (1965) 
 Leiomyosarcoma [MESH:D007890] (977)
 Leiomyoma [MESH:D007889] (744) 
 Leiomyomatosis [MESH:D018231] (30) 
 Reed's syndrome [MESH:C535516] (27)
 Myosarcoma [MESH:D009217] (790) 
 Rhabdomyosarcoma [MESH:D012208] (789) 
 Rhabdomyosarcoma, Embryonal [MESH:D018233] (98)
 Perivascular Epithelioid Cell Neoplasms [MESH:D054973] (165) 
 Lymphangioleiomyomatosis [MESH:D018192] (162)
 Sarcoma [MESH:D012509] (4246) 
 Hemangiosarcoma [MESH:D006394] (1836)
 Leiomyosarcoma [MESH:D007890] (977)
 Osteosarcoma [MESH:D012516] (2175)
 Sarcoma, Synovial [MESH:D013584] (993)
 Chondrosarcoma [MESH:D002813] (1217) 
 Chondrosarcoma, Mesenchymal [MESH:D018211] (1161)
 Myosarcoma [MESH:D009217] (790) 
 Rhabdomyosarcoma [MESH:D012208] (789) 
 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) 
 Neuroectodermal Tumors [MESH:D017599] (5066) 
 Neoplasms, Neuroepithelial [MESH:D018302] (4487) 
 Glioma [MESH:D005910] (4261) 
 Gliosarcoma [MESH:D018316] (880)
 Medulloblastoma [MESH:D008527] (1282)
 Oligodendroglioma [MESH:D009837] (241)
 Astrocytoma [MESH:D001254] (2692) 
 Glioblastoma [MESH:D005909] (2554)
 Neuroectodermal Tumors, Primitive [MESH:D018242] (2005) 
 Medulloblastoma [MESH:D008527] (1282)
 Neuroectodermal Tumors, Primitive, Peripheral [MESH:D018241] (1433) 
 Neuroblastoma [MESH:D009447] (1420)
 Neuroendocrine Tumors [MESH:D018358] (3633) 
 Carcinoma, Neuroendocrine [MESH:D018278] (262) 
 Carcinoma, Medullary [MESH:D018276] (181) 
 Familial medullary thyroid carcinoma [MESH:C536911] (101)
 Melanoma [MESH:D008545] (3508) 
 Uveal melanoma [MESH:C536494] (109)
 Paraganglioma [MESH:D010235] (297) 
 Pheochromocytoma [MESH:D010673] (275)
 Paraganglioma, Extra-Adrenal [MESH:D010236] (21) 
 Glomus vagale tumors [MESH:C536827] (13)
 Neoplasms, Glandular and Epithelial [MESH:D009375] (7760) 
 Adenoma [MESH:D000236] (4051) 
 Growth Hormone-Secreting Pituitary Adenoma [MESH:D049912] (383)
 Mesothelioma [MESH:D008654] (2567)
 Prolactinoma [MESH:D015175] (312)
 Adenoma, Oxyphilic [MESH:D018249] (115) 
 Oncocytoma, renal [MESH:C537750] (35)
 Carcinoma [MESH:D002277] (7263) 
 Pancreatic cancer, adult [MESH:C535836] (572)
 Keratoacanthoma familial [MESH:C536150] (78)
 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, Renal Cell [MESH:D002292] (2975)
 Cholangiocarcinoma [MESH:D018281] (2398)
 Adenocarcinoma, Follicular [MESH:D018263] (677) 
 Thyroid cancer, follicular [MESH:C572845] (674)
 Carcinoma, Ductal [MESH:D044584] (1786) 
 Carcinoma, Ductal, Breast [MESH:D018270] (1112)
 Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)
 Carcinoma, Neuroendocrine [MESH:D018278] (262) 
 Carcinoma, Medullary [MESH:D018276] (181) 
 Familial medullary thyroid carcinoma [MESH:C536911] (101)
 Carcinoma in Situ [MESH:D002278] (2111) 
 Prostatic Intraepithelial Neoplasia [MESH:D019048] (1565)
 Carcinoma, Squamous Cell [MESH:D002294] (4294) 
 Carcinoma, squamous cell of head and neck [MESH:C535575] (1543)
 Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)
 Neoplasms, Basal Cell [MESH:D018295] (1707) 
 Carcinoma, Basal Cell [MESH:D002280] (1628)
 Neoplasms, Ductal, Lobular, and Medullary [MESH:D018299] (1831) 
 Carcinoma, Ductal [MESH:D044584] (1786) 
 Carcinoma, Ductal, Breast [MESH:D018270] (1112)
 Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)
 Carcinoma, Medullary [MESH:D018276] (181) 
 Familial medullary thyroid carcinoma [MESH:C536911] (101)
 Neoplasms, Mesothelial [MESH:D018301] (2569) 
 Mesothelioma [MESH:D008654] (2567)
 Neoplasms, Neuroepithelial [MESH:D018302] (4487) 
 Glioma [MESH:D005910] (4261) 
 Gliosarcoma [MESH:D018316] (880)
 Medulloblastoma [MESH:D008527] (1282)
 Oligodendroglioma [MESH:D009837] (241)
 Astrocytoma [MESH:D001254] (2692) 
 Glioblastoma [MESH:D005909] (2554)
 Neuroectodermal Tumors, Primitive [MESH:D018242] (2005) 
 Medulloblastoma [MESH:D008527] (1282)
 Neuroectodermal Tumors, Primitive, Peripheral [MESH:D018241] (1433) 
 Neuroblastoma [MESH:D009447] (1420)
 Neoplasms, Squamous Cell [MESH:D018307] (4457) 
 Papilloma [MESH:D010212] (2243)
 Carcinoma, Squamous Cell [MESH:D002294] (4294) 
 Carcinoma, squamous cell of head and neck [MESH:C535575] (1543)
 Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)
 Neoplasms, Gonadal Tissue [MESH:D018309] (284) 
 Sex Cord-Gonadal Stromal Tumors [MESH:D018312] (282) 
 Sertoli-Leydig Cell Tumor [MESH:D018310] (272) 
 Leydig Cell Tumor [MESH:D007984] (267)
 Neoplasms, Nerve Tissue [MESH:D009380] (5201) 
 Meningioma [MESH:D008579] (978) 
 Meningioma, familial [MESH:C537443] (195)
 Nerve Sheath Neoplasms [MESH:D018317] (365) 
 Neurofibroma [MESH:D009455] (177) 
 Neurofibromatoses [MESH:D017253] (146) 
 Neurofibromatosis 1 [MESH:D009456] (117)
 Neuroectodermal Tumors [MESH:D017599] (5059) 
 Neoplasms, Neuroepithelial [MESH:D018302] (4487) 
 Glioma [MESH:D005910] (4261) 
 Gliosarcoma [MESH:D018316] (880)
 Medulloblastoma [MESH:D008527] (1282)
 Oligodendroglioma [MESH:D009837] (241)
 Astrocytoma [MESH:D001254] (2692) 
 Glioblastoma [MESH:D005909] (2554)
 Neuroectodermal Tumors, Primitive [MESH:D018242] (2005) 
 Medulloblastoma [MESH:D008527] (1282)
 Neuroectodermal Tumors, Primitive, Peripheral [MESH:D018241] (1433) 
 Neuroblastoma [MESH:D009447] (1420)
 Neuroendocrine Tumors [MESH:D018358] (3625) 
 Carcinoma, Neuroendocrine [MESH:D018278] (184) 
 Carcinoma, Medullary [MESH:D018276] (181) 
 Familial medullary thyroid carcinoma [MESH:C536911] (101)
 Melanoma [MESH:D008545] (3508) 
 Uveal melanoma [MESH:C536494] (109)
 Paraganglioma [MESH:D010235] (297) 
 Pheochromocytoma [MESH:D010673] (275)
 Paraganglioma, Extra-Adrenal [MESH:D010236] (21) 
 Glomus vagale tumors [MESH:C536827] (13)
 Neoplasms, Plasma Cell [MESH:D054219] (2772) 
 Multiple Myeloma [MESH:D009101] (2767)
 Neoplasms, Vascular Tissue [MESH:D009383] (2959) 
 Angiokeratoma [MESH:D000794] (54)
 Hemangiosarcoma [MESH:D006394] (1836)
 Glomus Tumor [MESH:D005918] (14) 
 Glomus vagale tumors [MESH:C536827] (13)
 Hemangioma [MESH:D006391] (690) 
 Sturge-Weber Syndrome [MESH:D013341] (76)
 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) 
 Uveal melanoma [MESH:C536494] (109)
 Nevus [MESH:D009506] (340) 
 Nevus, Sebaceous of Jadassohn [MESH:D054000] (209)
 Neoplasms by Site [MESH:D009371] (9169) 
 Bone Neoplasms [MESH:D001859] (1334)
 Soft Tissue Neoplasms [MESH:D012983] (2003)
 Breast Neoplasms [MESH:D001943] (6077) 
 Breast Neoplasms, Male [MESH:D018567] (650)
 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)
 Colonic Neoplasms [MESH:D003110] (4405)
 Rectal Neoplasms [MESH:D012004] (717)
 Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258) 
 Lynch syndrome I (site-specific colonic cancer) [MESH:C537261] (130)
 Liver Neoplasms [MESH:D008113] (6048) 
 Carcinoma, Hepatocellular [MESH:D006528] (5375)
 Liver Neoplasms, Experimental [MESH:D008114] (2837)
 Pancreatic Neoplasms [MESH:D010190] (3820) 
 Pancreatic cancer, adult [MESH:C535836] (572)
 Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)
 Endocrine Gland Neoplasms [MESH:D004701] (4925) 
 Multiple Endocrine Neoplasia [MESH:D009377] (375) 
 Multiple Endocrine Neoplasia Type 2b [MESH:D018814] (75)
 Multiple Endocrine Neoplasia Type 2a [MESH:D018813] (102) 
 Familial medullary thyroid carcinoma [MESH:C536911] (101)
 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)
 Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)
 Pituitary Neoplasms [MESH:D010911] (981) 
 Growth Hormone-Secreting Pituitary Adenoma [MESH:D049912] (383)
 Prolactinoma [MESH:D015175] (312)
 Testicular Neoplasms [MESH:D013736] (520) 
 Sertoli-Leydig Cell Tumor [MESH:D018310] (272) 
 Leydig Cell Tumor [MESH:D007984] (267)
 Thyroid Neoplasms [MESH:D013964] (2040) 
 Familial medullary thyroid carcinoma [MESH:C536911] (101)
 Thyroid cancer, medullary [MESH:C536914] (74)
 Eye Neoplasms [MESH:D005134] (400) 
 Uveal Neoplasms [MESH:D014604] (115) 
 Uveal melanoma [MESH:C536494] (109)
 Head and Neck Neoplasms [MESH:D006258] (4612) 
 Carcinoma, squamous cell of head and neck [MESH:C535575] (1543)
 Esophageal Neoplasms [MESH:D004938] (3737) 
 Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)
 Adenocarcinoma Of Esophagus [MESH:C562730] (1530)
 Mouth Neoplasms [MESH:D009062] (2263) 
 Salivary Gland Neoplasms [MESH:D012468] (968)
 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) 
 Familial medullary thyroid carcinoma [MESH:C536911] (101)
 Thyroid cancer, medullary [MESH:C536914] (74)
 Mammary Neoplasms, Animal [MESH:D015674] (3404) 
 Mammary Neoplasms, Experimental [MESH:D008325] (3268)
 Nervous System Neoplasms [MESH:D009423] (3130) 
 Central Nervous System Neoplasms [MESH:D016543] (3055) 
 Brain Neoplasms [MESH:D001932] (2764) 
 Turcot syndrome [MESH:C536928] (159)
 Supratentorial Neoplasms [MESH:D015173] (930) 
 Hypothalamic Neoplasms [MESH:D007029] (922) 
 Pituitary Neoplasms [MESH:D010911] (914)
 Central Nervous System Cysts [MESH:D020863] (57) 
 Arachnoid Cysts [MESH:D016080] (50) 
 Chudley-Mccullough syndrome [MESH:C535459] (45)
 Meningeal Neoplasms [MESH:D008577] (984) 
 Meningioma [MESH:D008579] (978) 
 Meningioma, familial [MESH:C537443] (195)
 Skin Neoplasms [MESH:D012878] (2992) 
 Reed's syndrome [MESH:C535516] (27)
 Sebaceous Gland Neoplasms [MESH:D012626] (154) 
 Muir-Torre Syndrome [MESH:D055653] (102)
 Thoracic Neoplasms [MESH:D013899] (6032) 
 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)
 Pulmonary Blastoma [MESH:D018202] (38) 
 Pleuropulmonary blastoma [MESH:C537516] (37)
 Urogenital Neoplasms [MESH:D014565] (7002) 
 Genital Neoplasms, Female [MESH:D005833] (2540) 
 Vaginal Neoplasms [MESH:D014625] (363)
 Uterine Neoplasms [MESH:D014594] (2431) 
 Reed's syndrome [MESH:C535516] (27)
 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) 
 Prostate cancer, familial [MESH:C537243] (264)
 Testicular Neoplasms [MESH:D013736] (520) 
 Sertoli-Leydig Cell Tumor [MESH:D018310] (272) 
 Leydig Cell Tumor [MESH:D007984] (267)
 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)
 Neoplasms, Experimental [MESH:D009374] (5218) 
 Liver Neoplasms, Experimental [MESH:D008114] (2837)
 Mammary Neoplasms, Experimental [MESH:D008325] (3268)
 Tumor Virus Infections [MESH:D014412] (697) 
 Epstein-Barr Virus Infections [MESH:D020031] (693) 
 Burkitt Lymphoma [MESH:D002051] (691)
 Neoplasms, Multiple Primary [MESH:D009378] (961) 
 Tuberous Sclerosis [MESH:D014402] (635)
 Hamartoma Syndrome, Multiple [MESH:D006223] (262) 
 Proteus Syndrome [MESH:D016715] (152)
 Multiple Endocrine Neoplasia [MESH:D009377] (375) 
 Multiple Endocrine Neoplasia Type 2b [MESH:D018814] (75)
 Multiple Endocrine Neoplasia Type 2a [MESH:D018813] (102) 
 Familial medullary thyroid carcinoma [MESH:C536911] (101)
 Neoplastic Processes [MESH:D009385] (5317) 
 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) 
 Turcot syndrome [MESH:C536928] (159)
 Meningioma, familial [MESH:C537443] (195)
 Juvenile polyposis syndrome [MESH:C537702] (196)
 Birt-Hogg-Dube Syndrome [MESH:D058249] (35)
 Exostoses, Multiple Hereditary [MESH:D005097] (154)
 Hamartoma Syndrome, Multiple [MESH:D006223] (260)
 Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)
 Li-Fraumeni Syndrome [MESH:D016864] (859)
 Tuberous Sclerosis [MESH:D014402] (635)
 Wilms Tumor [MESH:D009396] (553)
 Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (260) 
 Lynch syndrome I (site-specific colonic cancer) [MESH:C537261] (130)
 Lynch Syndrome II [MESH:D055847] (103) 
 Muir-Torre Syndrome [MESH:D055653] (102)
 Multiple Endocrine Neoplasia [MESH:D009377] (375) 
 Multiple Endocrine Neoplasia Type 2b [MESH:D018814] (75)
 Multiple Endocrine Neoplasia Type 2a [MESH:D018813] (102) 
 Familial medullary thyroid carcinoma [MESH:C536911] (101)
 Neurofibromatoses [MESH:D017253] (146) 
 Neurofibromatosis 1 [MESH:D009456] (117)
 Precancerous Conditions [MESH:D011230] (2858) 
 Xeroderma Pigmentosum [MESH:D014983] (213) 
 Xeroderma Pigmentosum, Complementation Group E [MESH:C564732] (38)
 Tumor Virus Infections [MESH:D014412] (759) 
 Epstein-Barr Virus Infections [MESH:D020031] (693) 
 Burkitt Lymphoma [MESH:D002051] (691)
C05. Musculoskeletal Diseases 
C05. Musculoskeletal Diseases
 Musculoskeletal Diseases [MESH:D009140] (8705) 
 Bone Diseases [MESH:D001847] (5801) 
 Bone Neoplasms [MESH:D001859] (1334)
 Osteitis Deformans [MESH:D010001] (287)
 Bone Diseases, Developmental [MESH:D001848] (3315) 
 Acromicric dysplasia [MESH:C535662] (520)
 Proteus Syndrome [MESH:D016715] (152)
 Acro-Osteolysis [MESH:D030981] (548) 
 Keratosis palmoplantaris with periodontopathia and onychogryposis [MESH:C537627] (73)
 Dwarfism [MESH:D004392] (778) 
 Rapadilino syndrome [MESH:C535288] (30)
 Desbuquois syndrome [MESH:C535943] (20)
 Diastrophic dysplasia [MESH:C536170] (34)
 Seckel syndrome 1 [MESH:C537533] (63)
 Seckel syndrome 2 [MESH:C537534] (7)
 Microcephalic Osteodysplastic Primordial Dwarfism, Type II [MESH:C565898] (7)
 Three M Syndrome 2 [MESH:C567862] (22)
 Achondroplasia [MESH:D000130] (196) 
 Achondrogenesis type 1B [MESH:C536016] (34)
 Dysostoses [MESH:D004413] (1019) 
 Craniofacial Dysostosis [MESH:D003394] (391) 
 Hypertelorism [MESH:D006972] (109) 
 Roberts Syndrome [MESH:C535687] (32)
 Synostosis [MESH:D013580] (817) 
 Craniosynostoses [MESH:D003398] (438) 
 Craniosynostosis radial aplasia syndrome [MESH:C536788] (30)
 Jackson-Weiss syndrome [MESH:C537559] (149)
 Cranioectodermal Dysplasia [MESH:C562966] (16)
 Craniosynostosis, Type 2 [MESH:C565753] (36)
 Acrocephalosyndactylia [MESH:D000168] (201) 
 Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149)
 Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42)
 Syndactyly [MESH:D013576] (487) 
 Popliteal Pterygium Syndrome [MESH:C562509] (33)
 Acrocephalosyndactylia [MESH:D000168] (201) 
 Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149)
 Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42)
 Osteochondrodysplasias [MESH:D010009] (2440) 
 Atelosteogenesis type 2 [MESH:C535395] (34)
 Epiphyseal dysplasia, multiple, 4 [MESH:C535504] (34)
 Epiphyseal dysplasia, multiple, 5 [MESH:C535505] (18)
 Osteoglophonic dwarfism [MESH:C536050] (90)
 Wolcott-Rallison syndrome [MESH:C536739] (92)
 Spondyloepiphyseal Dysplasia Tarda, X-Linked [MESH:C562447] (13)
 Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related [MESH:C563869] (18)
 Microcephalic Osteodysplastic Primordial Dwarfism, Type II [MESH:C565898] (7)
 Spondyloepimetaphyseal Dysplasia, Pakistani Type [MESH:C567551] (63)
 Fibrous Dysplasia of Bone [MESH:D005357] (737)
 Achondroplasia [MESH:D000130] (196) 
 Achondrogenesis type 1B [MESH:C536016] (34)
 Chondrodysplasia Punctata [MESH:D002806] (108) 
 Chondrodysplasia punctata 2, X-linked dominant [MESH:C538416] (61)
 Cleidocranial Dysplasia [MESH:D002973] (129) 
 Parietal Foramina With Cleidocranial Dysplasia [MESH:C566825] (36)
 Osteochondroma [MESH:D015831] (157) 
 Osteochondromatosis [MESH:D018216] (155) 
 Exostoses, Multiple Hereditary [MESH:D005097] (154)
 Osteogenesis Imperfecta [MESH:D010013] (481) 
 Bruck syndrome 2 [MESH:C537407] (64)
 Osteogenesis Imperfecta, Type IX [MESH:C564921] (46)
 Osteosclerosis [MESH:D010026] (356) 
 Osteopetrosis [MESH:D010022] (318) 
 Osteopetrosis with renal tubular acidosis [MESH:C536058] (130)
 Osteopetrosis, Autosomal Recessive 1 [MESH:C564915] (29)
 Osteopetrosis, Autosomal Recessive 5 [MESH:C566883] (16)
 Bone Diseases, Metabolic [MESH:D001851] (3492) 
 Mucolipidoses [MESH:D009081] (78) 
 Neuraminidase 1 deficiency [MESH:C537366] (31)
 Microvillus inclusion disease [MESH:C537470] (28)
 Osteoporosis [MESH:D010024] (3037) 
 Osteoporosis, Postmenopausal [MESH:D015663] (2351)
 Rickets [MESH:D012279] (341) 
 Rickets, Hypophosphatemic [MESH:D063730] (276) 
 Familial Hypophosphatemic Rickets [MESH:D053098] (274) 
 Vitamin D Hydroxylation-Deficient Rickets, Type 1B [MESH:C564005] (25)
 Bone Resorption [MESH:D001862] (2352) 
 Alveolar Bone Loss [MESH:D016301] (220)
 Osteolysis [MESH:D010014] (1787) 
 Acro-Osteolysis [MESH:D030981] (548) 
 Keratosis palmoplantaris with periodontopathia and onychogryposis [MESH:C537627] (73)
 Hyperostosis [MESH:D015576] (493) 
 Exostoses [MESH:D005096] (160) 
 Exostoses, Multiple Hereditary [MESH:D005097] (154)
 Spinal Diseases [MESH:D013122] (2485) 
 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)
 Cartilage Diseases [MESH:D002357] (438) 
 Keutel syndrome [MESH:C536167] (102)
 Foot Deformities [MESH:D005530] (553) 
 Foot Deformities, Congenital [MESH:D005532] (538) 
 Jackson-Weiss syndrome [MESH:C537559] (149)
 Clubfoot [MESH:D003025] (79) 
 TARP syndrome [MESH:C536942] (18)
 Hand Deformities [MESH:D006226] (590) 
 Hand Deformities, Congenital [MESH:D006228] (587) 
 Oculootoradial syndrome [MESH:C535544] (14)
 Keutel syndrome [MESH:C536167] (102)
 Jaw Diseases [MESH:D007571] (1601) 
 Jaw Abnormalities [MESH:D007569] (1435) 
 Cleft Palate [MESH:D002972] (1330) 
 Van der Woude syndrome [MESH:C536528] (33)
 Popliteal Pterygium Syndrome [MESH:C562509] (33)
 Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65)
 Micrognathism [MESH:D008844] (230) 
 Meier-Gorlin syndrome [MESH:C538012] (133)
 Pierre Robin Syndrome [MESH:D010855] (101) 
 TARP syndrome [MESH:C536942] (18)
 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)
 Gout [MESH:D006073] (261)
 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) 
 Lethal congenital contracture syndrome 1 [MESH:C537194] (14)
 Bruck syndrome 2 [MESH:C537407] (64)
 Lethal Congenital Contracture Syndrome 2 [MESH:C564369] (85)
 Lethal Arthrogryposis With Anterior Horn Cell Disease [MESH:C567502] (14)
 Joint Instability [MESH:D007593] (67) 
 Desbuquois syndrome [MESH:C535943] (20)
 Muscular Diseases [MESH:D009135] (4071) 
 Myopathy, Reducing Body, X-Linked, Childhood-Onset [MESH:C567468] (64)
 Myopathy, Reducing Body, X-Linked, Early-Onset, Severe [MESH:C567469] (64)
 Muscle Weakness [MESH:D018908] (478)
 Arthrogryposis [MESH:D001176] (329) 
 Lethal congenital contracture syndrome 1 [MESH:C537194] (14)
 Bruck syndrome 2 [MESH:C537407] (64)
 Lethal Congenital Contracture Syndrome 2 [MESH:C564369] (85)
 Lethal Arthrogryposis With Anterior Horn Cell Disease [MESH:C567502] (14)
 Mitochondrial Myopathies [MESH:D017240] (2176) 
 Mitochondrial Encephalomyopathies [MESH:D017237] (1121)
 Muscle Spasticity [MESH:D009128] (187) 
 Spastic ataxia Charlevoix-Saguenay type [MESH:C536787] (37)
 Muscular Disorders, Atrophic [MESH:D020966] (1598) 
 Muscular Dystrophies [MESH:D009136] (1593) 
 Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854)
 Muscular Dystrophies, Limb-Girdle [MESH:D049288] (259) 
 Sarcoglycanopathies [MESH:D058088] (49) 
 Limb-girdle muscular dystrophy, type 2C [MESH:C535900] (20)
 Muscular Dystrophy, Emery-Dreifuss [MESH:D020389] (169) 
 Myopathy, X-Linked, With Postural Muscle Atrophy [MESH:C567480] (64)
 Scapuloperoneal Myopathy, X-Linked Dominant [MESH:C567481] (64)
 Myositis [MESH:D009220] (2071) 
 Dermatomyositis [MESH:D003882] (1826)
 Myositis Ossificans [MESH:D009221] (22)
 Polymyositis [MESH:D017285] (2007) 
 Dermatomyositis [MESH:D003882] (1826)
 Musculoskeletal Abnormalities [MESH:D009139] (3796) 
 Campomelic Dysplasia [MESH:D055036] (75)
 Arthrogryposis [MESH:D001176] (329) 
 Lethal congenital contracture syndrome 1 [MESH:C537194] (14)
 Bruck syndrome 2 [MESH:C537407] (64)
 Lethal Congenital Contracture Syndrome 2 [MESH:C564369] (85)
 Lethal Arthrogryposis With Anterior Horn Cell Disease [MESH:C567502] (14)
 Craniofacial Abnormalities [MESH:D019465] (3098) 
 Roberts Syndrome [MESH:C535687] (32)
 Desbuquois syndrome [MESH:C535943] (20)
 Kleefstra Syndrome [MESH:C563043] (25)
 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)
 LIG4 Syndrome [MESH:C564694] (24)
 Costello Syndrome [MESH:D056685] (407)
 LEOPARD Syndrome [MESH:D044542] (299)
 Silver-Russell Syndrome [MESH:D056730] (142)
 22q11 Deletion Syndrome [MESH:D058165] (237) 
 DiGeorge Syndrome [MESH:D004062] (236)
 Cleidocranial Dysplasia [MESH:D002973] (129) 
 Parietal Foramina With Cleidocranial Dysplasia [MESH:C566825] (36)
 Craniofacial Dysostosis [MESH:D003394] (391) 
 Hypertelorism [MESH:D006972] (109) 
 Roberts Syndrome [MESH:C535687] (32)
 Craniosynostoses [MESH:D003398] (438) 
 Craniosynostosis radial aplasia syndrome [MESH:C536788] (30)
 Jackson-Weiss syndrome [MESH:C537559] (149)
 Cranioectodermal Dysplasia [MESH:C562966] (16)
 Craniosynostosis, Type 2 [MESH:C565753] (36)
 Acrocephalosyndactylia [MESH:D000168] (201) 
 Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149)
 Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42)
 Holoprosencephaly [MESH:D016142] (218) 
 Holoprosencephaly 4 [MESH:C564180] (70)
 Loeys-Dietz Syndrome [MESH:D055947] (263) 
 Loeys-Dietz Syndrome, Type 2A [MESH:C567156] (78)
 Macrocephaly [MESH:D058627] (264) 
 Macrocephaly Autism Syndrome [MESH:C565342] (151)
 Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy [MESH:C567020] (21)
 Maxillofacial Abnormalities [MESH:D019767] (1447) 
 Jaw Abnormalities [MESH:D007569] (1438) 
 Cleft Palate [MESH:D002972] (1330) 
 Van der Woude syndrome [MESH:C536528] (33)
 Popliteal Pterygium Syndrome [MESH:C562509] (33)
 Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65)
 Micrognathism [MESH:D008844] (230) 
 Meier-Gorlin syndrome [MESH:C538012] (133)
 Pierre Robin Syndrome [MESH:D010855] (101) 
 TARP syndrome [MESH:C536942] (18)
 Microcephaly [MESH:D008831] (700) 
 Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)
 Seckel syndrome 1 [MESH:C537533] (63)
 Seckel syndrome 2 [MESH:C537534] (7)
 Microcephalic Osteodysplastic Primordial Dwarfism, Type II [MESH:C565898] (7)
 Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83)
 Noonan Syndrome [MESH:D009634] (506) 
 Noonan syndrome 3 [MESH:C537847] (118)
 Plagiocephaly [MESH:D059041] (440) 
 Craniosynostoses [MESH:D003398] (438) 
 Craniosynostosis radial aplasia syndrome [MESH:C536788] (30)
 Jackson-Weiss syndrome [MESH:C537559] (149)
 Cranioectodermal Dysplasia [MESH:C562966] (16)
 Craniosynostosis, Type 2 [MESH:C565753] (36)
 Acrocephalosyndactylia [MESH:D000168] (201) 
 Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149)
 Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42)
 Limb Deformities, Congenital [MESH:D017880] (1813) 
 Rapadilino syndrome [MESH:C535288] (30)
 Acromicric dysplasia [MESH:C535662] (520)
 VACTERL hydrocephaly [MESH:C536521] (151)
 Proteus Syndrome [MESH:D016715] (152)
 Ectromelia [MESH:D004480] (108) 
 Roberts Syndrome [MESH:C535687] (32)
 Lower Extremity Deformities, Congenital [MESH:D038061] (560) 
 Popliteal Pterygium Syndrome [MESH:C562509] (33)
 Foot Deformities, Congenital [MESH:D005532] (538) 
 Jackson-Weiss syndrome [MESH:C537559] (149)
 Clubfoot [MESH:D003025] (79) 
 TARP syndrome [MESH:C536942] (18)
 Polydactyly [MESH:D017689] (318) 
 Desbuquois syndrome [MESH:C535943] (20)
 Hydrolethalus Syndrome 1 [MESH:C565504] (14)
 Syndactyly [MESH:D013576] (487) 
 Popliteal Pterygium Syndrome [MESH:C562509] (33)
 Acrocephalosyndactylia [MESH:D000168] (201) 
 Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149)
 Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42)
 Upper Extremity Deformities, Congenital [MESH:D038062] (604) 
 Hand Deformities, Congenital [MESH:D006228] (587) 
 Oculootoradial syndrome [MESH:C535544] (14)
 Keutel syndrome [MESH:C536167] (102)
 Synostosis [MESH:D013580] (817) 
 Craniosynostoses [MESH:D003398] (438) 
 Craniosynostosis radial aplasia syndrome [MESH:C536788] (30)
 Jackson-Weiss syndrome [MESH:C537559] (149)
 Cranioectodermal Dysplasia [MESH:C562966] (16)
 Craniosynostosis, Type 2 [MESH:C565753] (36)
 Acrocephalosyndactylia [MESH:D000168] (201) 
 Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149)
 Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42)
 Syndactyly [MESH:D013576] (487) 
 Popliteal Pterygium Syndrome [MESH:C562509] (33)
 Acrocephalosyndactylia [MESH:D000168] (201) 
 Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149)
 Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42)
 Rheumatic Diseases [MESH:D012216] (4032) 
 Arthritis, Juvenile [MESH:D001171] (1060)
 Arthritis, Rheumatoid [MESH:D001172] (3603)
 Gout [MESH:D006073] (261)
 Osteoarthritis [MESH:D010003] (1743)
C06. Digestive System Diseases 
C06. Digestive System Diseases
 Digestive System Diseases [MESH:D004066] (9461) 
 Biliary Tract Diseases [MESH:D001660] (3845) 
 Bile Duct Diseases [MESH:D001649] (3512) 
 Cholestasis [MESH:D002779] (3419) 
 Finnish lethal neonatal metabolic syndrome [MESH:C537934] (23)
 Cholestasis, Intrahepatic [MESH:D002780] (1510) 
 Cholestasis, progressive familial intrahepatic 1 [MESH:C535933] (263)
 Alagille Syndrome [MESH:D016738] (105)
 Liver Cirrhosis, Biliary [MESH:D008105] (1274)
 Cholangitis [MESH:D002761] (203) 
 Cholangitis, Sclerosing [MESH:D015209] (93) 
 Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78)
 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)
 Anus, Imperforate [MESH:D001006] (140) 
 Oculootoradial syndrome [MESH:C535544] (14)
 Digestive System Neoplasms [MESH:D004067] (7493) 
 Biliary Tract Neoplasms [MESH:D001661] (1165) 
 Gallbladder Neoplasms [MESH:D005706] (993)
 Gastrointestinal Neoplasms [MESH:D005770] (6460) 
 Gastrointestinal Stromal Tumors [MESH:D046152] (170)
 Stomach Neoplasms [MESH:D013274] (4942)
 Esophageal Neoplasms [MESH:D004938] (3737) 
 Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)
 Adenocarcinoma Of Esophagus [MESH:C562730] (1530)
 Intestinal Neoplasms [MESH:D007414] (5359) 
 Cecal Neoplasms [MESH:D002430] (822)
 Colorectal Neoplasms [MESH:D015179] (5294) 
 Turcot syndrome [MESH:C536928] (159)
 Colonic Neoplasms [MESH:D003110] (4405)
 Rectal Neoplasms [MESH:D012004] (717)
 Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258) 
 Lynch syndrome I (site-specific colonic cancer) [MESH:C537261] (130)
 Liver Neoplasms [MESH:D008113] (6048) 
 Carcinoma, Hepatocellular [MESH:D006528] (5375)
 Liver Neoplasms, Experimental [MESH:D008114] (2837)
 Pancreatic Neoplasms [MESH:D010190] (3820) 
 Pancreatic cancer, adult [MESH:C535836] (572)
 Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)
 Gastrointestinal Diseases [MESH:D005767] (7443) 
 Esophageal Diseases [MESH:D004935] (4255) 
 Barrett Esophagus [MESH:D001471] (1930)
 Deglutition Disorders [MESH:D003680] (1538) 
 Esophageal Motility Disorders [MESH:D015154] (1489) 
 Gastroesophageal Reflux [MESH:D005764] (1465)
 Esophageal Achalasia [MESH:D004931] (29) 
 Achalasia Addisonianism Alacrimia syndrome [MESH:C536008] (24)
 Esophageal Neoplasms [MESH:D004938] (3737) 
 Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)
 Adenocarcinoma Of Esophagus [MESH:C562730] (1530)
 Gastroenteritis [MESH:D005759] (4066) 
 Mucositis [MESH:D052016] (1238)
 Colitis [MESH:D003092] (3199) 
 Colitis, Ulcerative [MESH:D003093] (2601)
 Enterocolitis [MESH:D004760] (1536) 
 Enterocolitis, Necrotizing [MESH:D020345] (1367)
 Inflammatory Bowel Diseases [MESH:D015212] (3492) 
 Colitis, Ulcerative [MESH:D003093] (2601)
 Crohn Disease [MESH:D003424] (2585)
 Gastrointestinal Neoplasms [MESH:D005770] (6460) 
 Gastrointestinal Stromal Tumors [MESH:D046152] (170)
 Stomach Neoplasms [MESH:D013274] (4942)
 Esophageal Neoplasms [MESH:D004938] (3737) 
 Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)
 Adenocarcinoma Of Esophagus [MESH:C562730] (1530)
 Intestinal Neoplasms [MESH:D007414] (5359) 
 Cecal Neoplasms [MESH:D002430] (822)
 Colorectal Neoplasms [MESH:D015179] (5294) 
 Turcot syndrome [MESH:C536928] (159)
 Colonic Neoplasms [MESH:D003110] (4405)
 Rectal Neoplasms [MESH:D012004] (717)
 Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258) 
 Lynch syndrome I (site-specific colonic cancer) [MESH:C537261] (130)
 Intestinal Diseases [MESH:D007410] (6206) 
 Cecal Diseases [MESH:D002429] (1330) 
 Cecal Neoplasms [MESH:D002430] (822)
 Colonic Diseases [MESH:D003108] (5564) 
 Colitis [MESH:D003092] (3199) 
 Colitis, Ulcerative [MESH:D003093] (2601)
 Colorectal Neoplasms [MESH:D015179] (5282) 
 Turcot syndrome [MESH:C536928] (159)
 Colonic Neoplasms [MESH:D003110] (4405)
 Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258) 
 Lynch syndrome I (site-specific colonic cancer) [MESH:C537261] (130)
 Megacolon [MESH:D008531] (386) 
 Hirschsprung Disease [MESH:D006627] (361)
 Duodenal Diseases [MESH:D004378] (1982) 
 Peptic Ulcer [MESH:D010437] (1969)
 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)
 Colonic Neoplasms [MESH:D003110] (4405)
 Rectal Neoplasms [MESH:D012004] (717)
 Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258) 
 Lynch syndrome I (site-specific colonic cancer) [MESH:C537261] (130)
 Intestinal Polyposis [MESH:D044483] (1610) 
 Juvenile polyposis syndrome [MESH:C537702] (196)
 Malabsorption Syndromes [MESH:D008286] (492) 
 Microvillus inclusion disease [MESH:C537470] (28)
 Celiac Disease [MESH:D002446] (340)
 Lactose Intolerance [MESH:D007787] (113) 
 Lactose Intolerance, Adult Type [MESH:C562601] (112)
 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) 
 Stomach Ulcer [MESH:D013276] (2915)
 Stomach Diseases [MESH:D013272] (5325) 
 Stomach Neoplasms [MESH:D013274] (4942)
 Peptic Ulcer [MESH:D010437] (2994) 
 Stomach Ulcer [MESH:D013276] (2915)
 Liver Diseases [MESH:D008107] (8167) 
 Drug-Induced Liver Injury [MESH:D056486] (4936)
 Hepatomegaly [MESH:D006529] (1169)
 Hepatorenal Syndrome [MESH:D006530] (910)
 Hypertension, Portal [MESH:D006975] (869)
 Liver Diseases, Parasitic [MESH:D008109] (1009)
 Zellweger Syndrome [MESH:D015211] (182)
 Cholestasis, Intrahepatic [MESH:D002780] (1510) 
 Cholestasis, progressive familial intrahepatic 1 [MESH:C535933] (263)
 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) 
 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, Animal [MESH:D006520] (260)
 Hepatitis, Chronic [MESH:D006521] (2071) 
 Hepatitis, Autoimmune [MESH:D019693] (1982)
 Hepatitis, Viral, Human [MESH:D006525] (1766) 
 Hepatitis C [MESH:D006526] (1627)
 Liver Cirrhosis [MESH:D008103] (5542) 
 Liver Cirrhosis, Alcoholic [MESH:D008104] (3066)
 Liver Cirrhosis, Biliary [MESH:D008105] (1274)
 Liver Cirrhosis, Experimental [MESH:D008106] (4589)
 Liver Diseases, Alcoholic [MESH:D008108] (3243) 
 Hepatitis, Alcoholic [MESH:D006519] (1613)
 Liver Cirrhosis, Alcoholic [MESH:D008104] (3066)
 Liver Neoplasms [MESH:D008113] (6048) 
 Carcinoma, Hepatocellular [MESH:D006528] (5375)
 Liver Neoplasms, Experimental [MESH:D008114] (2837)
 Pancreatic Diseases [MESH:D010182] (4453) 
 Pancreatic Cyst [MESH:D010181] (18) 
 Renal hepatic pancreatic dysplasia Dandy Walker cyst [MESH:C537756] (11)
 Pancreatic Neoplasms [MESH:D010190] (3820) 
 Pancreatic cancer, adult [MESH:C535836] (572)
 Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)
 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) 
 External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation [MESH:C566509] (71)
 Cleft Palate [MESH:D002972] (1330) 
 Van der Woude syndrome [MESH:C536528] (33)
 Popliteal Pterygium Syndrome [MESH:C562509] (33)
 Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65)
 PCI 5002 [MESH:C568608] (527)
 Micrognathism [MESH:D008844] (230) 
 Meier-Gorlin syndrome [MESH:C538012] (133)
 Pierre Robin Syndrome [MESH:D010855] (101) 
 TARP syndrome [MESH:C536942] (18)
 Stevenson-Carey Syndrome [MESH:C567446] (44)
 Mouth Diseases [MESH:D009059] (4783) 
 Mucositis [MESH:D052016] (1238)
 Oral Submucous Fibrosis [MESH:D009914] (2432)
 Oral Ulcer [MESH:D019226] (488)
 Lip Diseases [MESH:D008047] (924) 
 Cleft Lip [MESH:D002971] (914) 
 Van der Woude syndrome [MESH:C536528] (33)
 Popliteal Pterygium Syndrome [MESH:C562509] (33)
 PCI 5002 [MESH:C568608] (433)
 Mouth Abnormalities [MESH:D009056] (1383) 
 Cleft Lip [MESH:D002971] (914) 
 Van der Woude syndrome [MESH:C536528] (33)
 Popliteal Pterygium Syndrome [MESH:C562509] (33)
 PCI 5002 [MESH:C568608] (433)
 Cleft Palate [MESH:D002972] (1330) 
 Van der Woude syndrome [MESH:C536528] (33)
 Popliteal Pterygium Syndrome [MESH:C562509] (33)
 Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65)
 Opitz GBBB Syndrome, X-Linked [MESH:C567932] (535)
 Mouth Neoplasms [MESH:D009062] (2263) 
 Salivary Gland Neoplasms [MESH:D012468] (968) 
 Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia [MESH:C566352] (437)
 Tongue Neoplasms [MESH:D014062] (1518) 
 Orstavik Lindemann Solberg syndrome [MESH:C537137] (668)
 Periodontal Diseases [MESH:D010510] (1001) 
 Poikiloderma of Kindler [MESH:C536321] (64)
 Periodontal Atrophy [MESH:D055093] (225) 
 Alveolar Bone Loss [MESH:D016301] (220)
 Periodontitis [MESH:D010518] (843) 
 Aggressive Periodontitis [MESH:D010520] (74)
 Chronic Periodontitis [MESH:D055113] (231)
 Salivary Gland Diseases [MESH:D012466] (1213) 
 Salivary Gland Neoplasms [MESH:D012468] (968) 
 Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia [MESH:C566352] (437)
 Tongue Diseases [MESH:D014060] (1544) 
 Tongue Neoplasms [MESH:D014062] (1518) 
 Orstavik Lindemann Solberg syndrome [MESH:C537137] (668)
 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) 
 Maxillofacial Abnormalities [MESH:D019767] (1447) 
 Jaw Abnormalities [MESH:D007569] (1438) 
 External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation [MESH:C566509] (71)
 Cleft Palate [MESH:D002972] (1330) 
 Van der Woude syndrome [MESH:C536528] (33)
 Popliteal Pterygium Syndrome [MESH:C562509] (33)
 Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65)
 Opitz GBBB Syndrome, X-Linked [MESH:C567932] (535)
 Micrognathism [MESH:D008844] (230) 
 Meier-Gorlin syndrome [MESH:C538012] (133)
 Pierre Robin Syndrome [MESH:D010855] (101) 
 TARP syndrome [MESH:C536942] (18)
 Stevenson-Carey Syndrome [MESH:C567446] (44)
 Mouth Abnormalities [MESH:D009056] (1383) 
 Cleft Lip [MESH:D002971] (914) 
 Van der Woude syndrome [MESH:C536528] (33)
 Popliteal Pterygium Syndrome [MESH:C562509] (33)
 Orofacial Cleft 12 [MESH:C567548] (434)
 Cleft Palate [MESH:D002972] (1330) 
 Van der Woude syndrome [MESH:C536528] (33)
 Popliteal Pterygium Syndrome [MESH:C562509] (33)
 Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65)
 Opitz GBBB Syndrome, X-Linked [MESH:C567932] (535)
 Tooth Diseases [MESH:D014076] (742) 
 Toothache [MESH:D014098] (46)
C08. Respiratory Tract Diseases 
C08. Respiratory Tract Diseases
 Z. Exceptions (1984) 
 Not Fully Specified [NFS] (1984)
 Respiratory Tract Diseases [MESH:D012140] (7881) 
 Ciliary Motility Disorders [MESH:D002925] (104)
 Respiratory System Abnormalities [MESH:D015619] (243)
 Bronchial Diseases [MESH:D001982] (4382) 
 Asthma [MESH:D001249] (4098)
 Bronchiectasis [MESH:D001987] (1792)
 Bronchitis [MESH:D001991] (993) 
 Bronchitis, Chronic [MESH:D029481] (569)
 Lung Diseases [MESH:D008171] (7249) 
 Pneumonia [MESH:D011014] (3482)
 Pulmonary Edema [MESH:D011654] (2109)
 Pulmonary Fibrosis [MESH:D011658] (3140)
 Pulmonary Veno-Occlusive Disease [MESH:D011668] (55)
 Respiratory Distress Syndrome, Adult [MESH:D012128] (864)
 Hypertension, Pulmonary [MESH:D006976] (2000) 
 Pulmonary arterial hypertension [MESH:C536282] (94)
 Lung Diseases, Interstitial [MESH:D017563] (2966) 
 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)
 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)
 Pleural Diseases [MESH:D010995] (2240) 
 Pleurisy [MESH:D010998] (2070)
 Pneumothorax [MESH:D011030] (42) 
 Pneumothorax, Primary Spontaneous [MESH:C566795] (35)
 Respiration Disorders [MESH:D012120] (2218) 
 Hyperventilation [MESH:D006985] (654)
 Respiratory Distress Syndrome, Adult [MESH:D012128] (864)
 Apnea [MESH:D001049] (748) 
 Sleep Apnea Syndromes [MESH:D012891] (570) 
 Sleep Apnea, Central [MESH:D020182] (347) 
 Congenital central hypoventilation syndrome [MESH:C536209] (341)
 Respiratory Insufficiency [MESH:D012131] (841) 
 Hypoventilation [MESH:D007040] (360) 
 Congenital central hypoventilation syndrome [MESH:C536209] (341)
 Sarcoglycanopathies [MESH:D058088] (49) 
 Limb-girdle muscular dystrophy, type 2C [MESH:C535900] (20)
 Respiratory Hypersensitivity [MESH:D012130] (4401) 
 Asthma [MESH:D001249] (4098)
 Respiratory Tract Infections [MESH:D012141] (3926) 
 Influenza, Human [MESH:D007251] (1075)
 Pleurisy [MESH:D010998] (2070)
 Pneumonia [MESH:D011014] (3482)
 Bronchitis [MESH:D001991] (588) 
 Bronchitis, Chronic [MESH:D029481] (569)
 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) 
 Ciliary Motility Disorders [MESH:D002925] (104)
 Ear Diseases [MESH:D004427] (2522) 
 Hearing Disorders [MESH:D006311] (2103) 
 Hearing Loss [MESH:D034381] (2068) 
 Deafness [MESH:D003638] (623) 
 Charcot-Marie-Tooth Disease, Demyelinating, Type 1e [MESH:C566136] (76)
 Hearing Loss, Bilateral [MESH:D006312] (55) 
 Oculootoradial syndrome [MESH:C535544] (14)
 Hearing Loss, Sensorineural [MESH:D006319] (1227) 
 Chudley-Mccullough syndrome [MESH:C535459] (45)
 Griscelli syndrome type 1 [MESH:C537301] (42)
 Bjornstad syndrome [MESH:C537633] (23)
 Barakat syndrome [MESH:C537907] (71)
 Deafness, Autosomal Dominant 9 [MESH:C563335] (33)
 Deafness, Autosomal Recessive 37 [MESH:C564331] (35)
 Deafness, Autosomal Recessive 28 [MESH:C565218] (26)
 Hearing Loss, Noise-Induced [MESH:D006317] (134)
 Hearing Loss, Central [MESH:D006313] (140) 
 Auditory Neuropathy, Autosomal Dominant, 1 [MESH:C563790] (92)
 Labyrinth Diseases [MESH:D007759] (846) 
 Vestibular Diseases [MESH:D015837] (819) 
 Kabuki syndrome [MESH:C537705] (9)
 Retrocochlear Diseases [MESH:D012181] (241) 
 Auditory Diseases, Central [MESH:D001304] (210) 
 Hearing Loss, Central [MESH:D006313] (140) 
 Auditory Neuropathy, Autosomal Dominant, 1 [MESH:C563790] (92)
 Otorhinolaryngologic Neoplasms [MESH:D010039] (1561) 
 Pharyngeal Neoplasms [MESH:D010610] (1520) 
 Nasopharyngeal Neoplasms [MESH:D009303] (1500) 
 Nasopharyngeal carcinoma [MESH:C538339] (1198)
 Pharyngeal Diseases [MESH:D010608] (1605) 
 Nasopharyngeal Diseases [MESH:D009302] (1508) 
 Nasopharyngeal Neoplasms [MESH:D009303] (1500) 
 Nasopharyngeal carcinoma [MESH:C538339] (1198)
 Pharyngeal Neoplasms [MESH:D010610] (1520) 
 Nasopharyngeal Neoplasms [MESH:D009303] (1500) 
 Nasopharyngeal carcinoma [MESH:C538339] (1198)
C10. Nervous System Diseases 
C10. Nervous System Diseases
 Z. Exceptions (4027) 
 Not Fully Specified [NFS] (4027)
 Nervous System Diseases [MESH:D009422] (13325) 
 Autoimmune Diseases of the Nervous System [MESH:D020274] (2238) 
 Aicardi-Goutieres Syndrome 4 [MESH:C563681] (39)
 Demyelinating Autoimmune Diseases, CNS [MESH:D020278] (1732) 
 Multiple Sclerosis [MESH:D009103] (1716)
 Nervous System Autoimmune Disease, Experimental [MESH:D020721] (810) 
 Encephalomyelitis, Autoimmune, Experimental [MESH:D004681] (806)
 Polyradiculoneuropathy [MESH:D011129] (197) 
 Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172)
 Central Nervous System Diseases [MESH:D002493] (9745) 
 Brain Diseases [MESH:D001927] (9294) 
 Brain Injuries [MESH:D001930] (3429)
 Hypoxia, Brain [MESH:D002534] (134)
 Auditory Diseases, Central [MESH:D001304] (210) 
 Hearing Loss, Central [MESH:D006313] (140) 
 Auditory Neuropathy, Autosomal Dominant, 1 [MESH:C563790] (92)
 Basal Ganglia Diseases [MESH:D001480] (4268) 
 Huntington Disease [MESH:D006816] (540)
 Supranuclear Palsy, Progressive [MESH:D013494] (235)
 Multiple System Atrophy [MESH:D019578] (158) 
 Olivopontocerebellar Atrophies [MESH:D009849] (49) 
 Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31)
 Parkinsonian Disorders [MESH:D020734] (4009) 
 Lewy Body Disease [MESH:D020961] (1143)
 Parkinson Disease, Secondary [MESH:D010302] (327)
 Parkinson Disease [MESH:D010300] (3595) 
 Parkinson Disease 6, Autosomal Recessive Early-Onset [MESH:C565276] (42)
 Brain Diseases, Metabolic [MESH:D001928] (3351) 
 Hepatic Encephalopathy [MESH:D006501] (1795)
 Kernicterus [MESH:D007647] (256)
 Mitochondrial Encephalomyopathies [MESH:D017237] (158)
 Brain Diseases, Metabolic, Inborn [MESH:D020739] (2634) 
 Leigh Disease [MESH:D007888] (206)
 Lesch-Nyhan Syndrome [MESH:D007926] (129)
 Maple Syrup Urine Disease [MESH:D008375] (127)
 Tyrosinemias [MESH:D020176] (132)
 Cerebral Amyloid Angiopathy, Familial [MESH:D028243] (377) 
 Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333)
 Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497) 
 Alexander Disease [MESH:D038261] (168)
 Pelizaeus-Merzbacher Disease [MESH:D020371] (103)
 Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636) 
 Fucosidosis [MESH:D005645] (34)
 Sialic Acid Storage Disease [MESH:D029461] (63)
 Mucolipidoses [MESH:D009081] (78) 
 Neuraminidase 1 deficiency [MESH:C537366] (31)
 Microvillus inclusion disease [MESH:C537470] (28)
 Sphingolipidoses [MESH:D013106] (582) 
 Fabry Disease [MESH:D000795] (56)
 Peroxisomal Disorders [MESH:D018901] (1472) 
 Zellweger Syndrome [MESH:D015211] (182)
 Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149) 
 Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)
 Pyruvate Dehydrogenase E2 Deficiency [MESH:C565448] (44)
 Urea Cycle Disorders, Inborn [MESH:D056806] (315) 
 Osteopetrosis with renal tubular acidosis [MESH:C536058] (130)
 HHH syndrome [MESH:C538380] (29)
 Brain Neoplasms [MESH:D001932] (2764) 
 Turcot syndrome [MESH:C536928] (159)
 Supratentorial Neoplasms [MESH:D015173] (930) 
 Hypothalamic Neoplasms [MESH:D007029] (922) 
 Pituitary Neoplasms [MESH:D010911] (914)
 Cerebellar Diseases [MESH:D002526] (736) 
 Cerebellar Ataxia [MESH:D002524] (542) 
 Spinocerebellar Ataxias [MESH:D020754] (406) 
 Spastic ataxia Charlevoix-Saguenay type [MESH:C536787] (37)
 Spinocerebellar Ataxia 15 [MESH:C564685] (90)
 Dandy-Walker Syndrome [MESH:D003616] (50) 
 Renal hepatic pancreatic dysplasia Dandy Walker cyst [MESH:C537756] (11)
 Spinocerebellar Degenerations [MESH:D013132] (449) 
 Spinocerebellar Ataxia 29 [MESH:C537206] (90)
 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy [MESH:C537313] (22)
 Olivopontocerebellar Atrophies [MESH:D009849] (49) 
 Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31)
 Spinocerebellar Ataxias [MESH:D020754] (322) 
 Spastic ataxia Charlevoix-Saguenay type [MESH:C536787] (37)
 Spinocerebellar Ataxia 15 [MESH:C564685] (90)
 Cerebrovascular Disorders [MESH:D002561] (5542) 
 Intracranial Arteriovenous Malformations [MESH:D002538] (1015)
 Vasospasm, Intracranial [MESH:D020301] (324)
 Brain Ischemia [MESH:D002545] (4873) 
 Brain Infarction [MESH:D020520] (2571) 
 Cerebral Infarction [MESH:D002544] (2458) 
 Infarction, Middle Cerebral Artery [MESH:D020244] (2268)
 Cerebral Small Vessel Diseases [MESH:D059345] (1292) 
 CADASIL [MESH:D046589] (45)
 Fabry Disease [MESH:D000795] (56)
 Cerebral Amyloid Angiopathy, Familial [MESH:D028243] (377) 
 Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333)
 Dementia, Vascular [MESH:D015140] (57) 
 CADASIL [MESH:D046589] (45)
 Intracranial Arterial Diseases [MESH:D020765] (2463) 
 Cerebral Arterial Diseases [MESH:D002539] (2440) 
 CADASIL [MESH:D046589] (45)
 Infarction, Middle Cerebral Artery [MESH:D020244] (2268)
 Cerebral Amyloid Angiopathy [MESH:D016657] (470) 
 Cerebral Amyloid Angiopathy, Familial [MESH:D028243] (377) 
 Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333)
 Intracranial Hemorrhages [MESH:D020300] (3269) 
 Subarachnoid Hemorrhage [MESH:D013345] (1082)
 Cerebral Hemorrhage [MESH:D002543] (2873) 
 Cerebral hemorrhage with amyloidosis, hereditary, Dutch type [MESH:C537944] (333)
 Stroke [MESH:D020521] (3702) 
 Brain Infarction [MESH:D020520] (2571) 
 Cerebral Infarction [MESH:D002544] (2458) 
 Infarction, Middle Cerebral Artery [MESH:D020244] (2268)
 Dementia [MESH:D003704] (4498) 
 Alzheimer Disease [MESH:D000544] (4275)
 Huntington Disease [MESH:D006816] (540)
 Lewy Body Disease [MESH:D020961] (1143)
 Dementia, Vascular [MESH:D015140] (57) 
 CADASIL [MESH:D046589] (45)
 Frontotemporal Lobar Degeneration [MESH:D057174] (310) 
 Frontotemporal Dementia [MESH:D057180] (300)
 Epilepsy [MESH:D004827] (6274) 
 Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy [MESH:C567020] (21)
 Epilepsies, Myoclonic [MESH:D004831] (1344)
 Seizures, Febrile [MESH:D003294] (229)
 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, Early Infantile, 2 [MESH:C564064] (11)
 Epileptic Encephalopathy, Early Infantile, 1 [MESH:C567924] (20)
 Seizures [MESH:D012640] (4502) 
 Partington X-linked mental retardation syndrome [MESH:C536300] (12)
 Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83)
 Headache Disorders [MESH:D020773] (2337) 
 Headache Disorders, Primary [MESH:D051270] (2327) 
 Migraine Disorders [MESH:D008881] (2318)
 Hydrocephalus [MESH:D006849] (276) 
 Hydrocephalus, X-linked [MESH:C536078] (37)
 VACTERL hydrocephaly [MESH:C536521] (151)
 Hydrolethalus Syndrome 1 [MESH:C565504] (14)
 Dandy-Walker Syndrome [MESH:D003616] (50) 
 Renal hepatic pancreatic dysplasia Dandy Walker cyst [MESH:C537756] (11)
 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) 
 Hyperpituitarism [MESH:D006964] (1250) 
 Hyperprolactinemia [MESH:D006966] (603)
 Hypopituitarism [MESH:D007018] (732) 
 Panhypopituitarism X-linked [MESH:C538613] (18)
 Mental Retardation, X-Linked, With Panhypopituitarism [MESH:C567485] (18)
 Pituitary Neoplasms [MESH:D010911] (981) 
 Growth Hormone-Secreting Pituitary Adenoma [MESH:D049912] (383)
 Prolactinoma [MESH:D015175] (312)
 Intracranial Hypertension [MESH:D019586] (368) 
 Hydrocephalus [MESH:D006849] (274) 
 Hydrocephalus, X-linked [MESH:C536078] (37)
 VACTERL hydrocephaly [MESH:C536521] (151)
 Hydrolethalus Syndrome 1 [MESH:C565504] (14)
 Dandy-Walker Syndrome [MESH:D003616] (50) 
 Renal hepatic pancreatic dysplasia Dandy Walker cyst [MESH:C537756] (11)
 Leukoencephalopathies [MESH:D056784] (1916) 
 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation [MESH:C567009] (13)
 Demyelinating Autoimmune Diseases, CNS [MESH:D020278] (822) 
 Encephalomyelitis, Autoimmune, Experimental [MESH:D004681] (806)
 Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497) 
 Alexander Disease [MESH:D038261] (168)
 Pelizaeus-Merzbacher Disease [MESH:D020371] (103)
 Central Nervous System Infections [MESH:D002494] (1823) 
 Central Nervous System Viral Diseases [MESH:D020805] (1416) 
 Meningitis, Viral [MESH:D008587] (1308) 
 Meningitis, Aseptic [MESH:D008582] (1305)
 Meningitis [MESH:D008581] (1506) 
 Meningitis, Aseptic [MESH:D008582] (1305)
 Meningitis, Viral [MESH:D008587] (1308) 
 Meningitis, Aseptic [MESH:D008582] (1305)
 Movement Disorders [MESH:D009069] (4823) 
 Angelman Syndrome [MESH:D017204] (124)
 Supranuclear Palsy, Progressive [MESH:D013494] (235)
 Dyskinesias [MESH:D020820] (1827) 
 Chorea [MESH:D002819] (651) 
 Huntington Disease [MESH:D006816] (540)
 Multiple System Atrophy [MESH:D019578] (158) 
 Olivopontocerebellar Atrophies [MESH:D009849] (49) 
 Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31)
 Parkinsonian Disorders [MESH:D020734] (4009) 
 Lewy Body Disease [MESH:D020961] (1143)
 Parkinson Disease, Secondary [MESH:D010302] (327)
 Parkinson Disease [MESH:D010300] (3595) 
 Parkinson Disease 6, Autosomal Recessive Early-Onset [MESH:C565276] (42)
 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)
 Amyotrophic Lateral Sclerosis 2, Juvenile [MESH:C565957] (29)
 Muscular Atrophy, Spinal [MESH:D009134] (850) 
 Bulbo-Spinal Atrophy, X-Linked [MESH:D055534] (566) 
 Bulbospinal neuronopathy, X-linked recessive [MESH:C537017] (565)
 Spinocerebellar Degenerations [MESH:D013132] (449) 
 Spinocerebellar Ataxia 29 [MESH:C537206] (90)
 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy [MESH:C537313] (22)
 Olivopontocerebellar Atrophies [MESH:D009849] (49) 
 Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31)
 Spinocerebellar Ataxias [MESH:D020754] (322) 
 Spastic ataxia Charlevoix-Saguenay type [MESH:C536787] (37)
 Spinocerebellar Ataxia 15 [MESH:C564685] (90)
 Chronobiology Disorders [MESH:D021081] (970) 
 Smith-Magenis Syndrome [MESH:D058496] (19) 
 Potocki-Lupski syndrome [MESH:C538355] (17)
 Cranial Nerve Diseases [MESH:D003389] (2004) 
 Ocular Motility Disorders [MESH:D015835] (1697) 
 Duane Retraction Syndrome [MESH:D004370] (43)
 Ophthalmoplegia [MESH:D009886] (1468) 
 Oculootoradial syndrome [MESH:C535544] (14)
 Supranuclear Palsy, Progressive [MESH:D013494] (235)
 Optic Nerve Diseases [MESH:D009901] (1375) 
 Optic Atrophy [MESH:D009896] (1203)
 Demyelinating Diseases [MESH:D003711] (2917) 
 Demyelinating Autoimmune Diseases, CNS [MESH:D020278] (2035) 
 Encephalomyelitis, Autoimmune, Experimental [MESH:D004681] (806)
 Multiple Sclerosis [MESH:D009103] (1716)
 Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497) 
 Alexander Disease [MESH:D038261] (168)
 Pelizaeus-Merzbacher Disease [MESH:D020371] (103)
 Polyradiculoneuropathy [MESH:D011129] (197) 
 Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172)
 Nervous System Malformations [MESH:D009421] (3354) 
 Aicardi-Goutieres Syndrome 4 [MESH:C563681] (39)
 Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172)
 Agenesis of Corpus Callosum [MESH:D061085] (345) 
 Chudley-Mccullough syndrome [MESH:C535459] (45)
 Proud Syndrome [MESH:C563110] (12)
 Corpus Callosum, Partial Agenesis of, X-Linked [MESH:C564115] (37)
 Holoprosencephaly [MESH:D016142] (218) 
 Holoprosencephaly 4 [MESH:C564180] (70)
 Central Nervous System Cysts [MESH:D020863] (57) 
 Arachnoid Cysts [MESH:D016080] (50) 
 Chudley-Mccullough syndrome [MESH:C535459] (45)
 Central Nervous System Vascular Malformations [MESH:D020785] (1031) 
 Intracranial Arteriovenous Malformations [MESH:D002538] (1015)
 Dandy-Walker Syndrome [MESH:D003616] (50) 
 Renal hepatic pancreatic dysplasia Dandy Walker cyst [MESH:C537756] (11)
 Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899) 
 Charcot-Marie-Tooth Disease [MESH:D002607] (627) 
 Charcot-Marie-Tooth Disease, Demyelinating, Type 1e [MESH:C566136] (76)
 Charcot-Marie-Tooth Disease, Axonal, Type 2n [MESH:C567653] (33)
 Spastic Paraplegia, Hereditary [MESH:D015419] (449) 
 MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome [MESH:C536029] (37)
 Spastic paraplegia 20, autosomal recessive [MESH:C536858] (24)
 Hereditary spastic paralysis, infantile onset ascending [MESH:C537217] (29)
 Malformations of Cortical Development [MESH:D054220] (1406) 
 Tuberous Sclerosis [MESH:D014402] (635)
 Lissencephaly [MESH:D054082] (218) 
 Classical Lissencephalies and Subcortical Band Heterotopias [MESH:D054221] (114) 
 Lissencephaly, X-Linked, 2 [MESH:C564563] (12)
 Macrocephaly [MESH:D058627] (264) 
 Macrocephaly Autism Syndrome [MESH:C565342] (151)
 Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy [MESH:C567020] (21)
 Microcephaly [MESH:D008831] (700) 
 Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)
 Seckel syndrome 1 [MESH:C537533] (63)
 Seckel syndrome 2 [MESH:C537534] (7)
 Microcephalic Osteodysplastic Primordial Dwarfism, Type II [MESH:C565898] (7)
 Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83)
 Neuronal Migration Disorders [MESH:D054081] (264) 
 Classical Lissencephalies and Subcortical Band Heterotopias [MESH:D054221] (114) 
 Lissencephaly, X-Linked, 2 [MESH:C564563] (12)
 Periventricular Nodular Heterotopia [MESH:D054091] (51) 
 Heterotopia, Periventricular, Autosomal Recessive [MESH:C564292] (14)
 Neural Tube Defects [MESH:D009436] (2143) 
 Spinal Dysraphism [MESH:D016135] (1025)
 Anencephaly [MESH:D000757] (120) 
 Neural tube defect, folate-sensitive [MESH:C536409] (111)
 Encephalocele [MESH:D004677] (151) 
 Parietal Foramina With Cleidocranial Dysplasia [MESH:C566825] (36)
 Parietal Foramina [MESH:C566826] (42)
 Nervous System Neoplasms [MESH:D009423] (3073) 
 Central Nervous System Neoplasms [MESH:D016543] (3055) 
 Brain Neoplasms [MESH:D001932] (2764) 
 Turcot syndrome [MESH:C536928] (159)
 Supratentorial Neoplasms [MESH:D015173] (930) 
 Hypothalamic Neoplasms [MESH:D007029] (922) 
 Pituitary Neoplasms [MESH:D010911] (914)
 Central Nervous System Cysts [MESH:D020863] (57) 
 Arachnoid Cysts [MESH:D016080] (50) 
 Chudley-Mccullough syndrome [MESH:C535459] (45)
 Meningeal Neoplasms [MESH:D008577] (984) 
 Meningioma [MESH:D008579] (978) 
 Meningioma, familial [MESH:C537443] (195)
 Neurocutaneous Syndromes [MESH:D020752] (1230) 
 Nevus, Sebaceous of Jadassohn [MESH:D054000] (209)
 Sturge-Weber Syndrome [MESH:D013341] (76)
 Tuberous Sclerosis [MESH:D014402] (635)
 von Hippel-Lindau Disease [MESH:D006623] (580)
 Neurofibromatoses [MESH:D017253] (146) 
 Neurofibromatosis 1 [MESH:D009456] (117)
 Neurodegenerative Diseases [MESH:D019636] (6613) 
 Lewy Body Disease [MESH:D020961] (1143)
 Heredodegenerative Disorders, Nervous System [MESH:D020271] (3243) 
 Alexander Disease [MESH:D038261] (168)
 Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172)
 Huntington Disease [MESH:D006816] (540)
 Lesch-Nyhan Syndrome [MESH:D007926] (129)
 Tuberous Sclerosis [MESH:D014402] (635)
 Bulbo-Spinal Atrophy, X-Linked [MESH:D055534] (566) 
 Bulbospinal neuronopathy, X-linked recessive [MESH:C537017] (565)
 Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899) 
 Charcot-Marie-Tooth Disease [MESH:D002607] (627) 
 Charcot-Marie-Tooth Disease, Demyelinating, Type 1e [MESH:C566136] (76)
 Charcot-Marie-Tooth Disease, Axonal, Type 2n [MESH:C567653] (33)
 Spastic Paraplegia, Hereditary [MESH:D015419] (449) 
 MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome [MESH:C536029] (37)
 Spastic paraplegia 20, autosomal recessive [MESH:C536858] (24)
 Hereditary spastic paralysis, infantile onset ascending [MESH:C537217] (29)
 Neurofibromatoses [MESH:D017253] (146) 
 Neurofibromatosis 1 [MESH:D009456] (117)
 Neuronal Ceroid-Lipofuscinoses [MESH:D009472] (1026) 
 Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)
 Ceroid lipofuscinosis, neuronal 8 [MESH:C537952] (28)
 Ceroid Lipofuscinosis, Neuronal, 6 [MESH:C566627] (20)
 Rett Syndrome [MESH:D015518] (143) 
 Epileptic Encephalopathy, Early Infantile, 2 [MESH:C564064] (11)
 Spinocerebellar Degenerations [MESH:D013132] (449) 
 Spinocerebellar Ataxia 29 [MESH:C537206] (90)
 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy [MESH:C537313] (22)
 Olivopontocerebellar Atrophies [MESH:D009849] (49) 
 Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31)
 Spinocerebellar Ataxias [MESH:D020754] (322) 
 Spastic ataxia Charlevoix-Saguenay type [MESH:C536787] (37)
 Spinocerebellar Ataxia 15 [MESH:C564685] (90)
 Motor Neuron Disease [MESH:D016472] (3670) 
 Primary lateral sclerosis juvenile [MESH:C536416] (29)
 Lethal Arthrogryposis With Anterior Horn Cell Disease [MESH:C567502] (14)
 Amyotrophic Lateral Sclerosis [MESH:D000690] (3296) 
 Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559)
 Amyotrophic Lateral Sclerosis 2, Juvenile [MESH:C565957] (29)
 Muscular Atrophy, Spinal [MESH:D009134] (850) 
 Bulbo-Spinal Atrophy, X-Linked [MESH:D055534] (566) 
 Bulbospinal neuronopathy, X-linked recessive [MESH:C537017] (565)
 Multiple System Atrophy [MESH:D019578] (158) 
 Olivopontocerebellar Atrophies [MESH:D009849] (49) 
 Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31)
 Olivopontocerebellar Atrophies [MESH:D009849] (49) 
 Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31)
 Parkinson Disease [MESH:D010300] (3595) 
 Parkinson Disease 6, Autosomal Recessive Early-Onset [MESH:C565276] (42)
 Tauopathies [MESH:D024801] (4289) 
 Alzheimer Disease [MESH:D000544] (4275)
 Supranuclear Palsy, Progressive [MESH:D013494] (235)
 TDP-43 Proteinopathies [MESH:D057177] (3337) 
 Amyotrophic Lateral Sclerosis [MESH:D000690] (3296) 
 Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559)
 Amyotrophic Lateral Sclerosis 2, Juvenile [MESH:C565957] (29)
 Frontotemporal Lobar Degeneration [MESH:D057174] (308) 
 Frontotemporal Dementia [MESH:D057180] (298)
 Neurologic Manifestations [MESH:D009461] (8964) 
 Gait Disorders, Neurologic [MESH:D020233] (491)
 Neurogenic Inflammation [MESH:D020078] (2246)
 Dyskinesias [MESH:D020820] (3365) 
 Catalepsy [MESH:D002375] (1429)
 Hyperkinesis [MESH:D006948] (1799)
 Hypokinesia [MESH:D018476] (279)
 Psychomotor Agitation [MESH:D011595] (167)
 Ataxia [MESH:D001259] (1138) 
 Partington X-linked mental retardation syndrome [MESH:C536300] (12)
 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract [MESH:C567203] (27)
 Cerebellar Ataxia [MESH:D002524] (542) 
 Spinocerebellar Ataxias [MESH:D020754] (406) 
 Spastic ataxia Charlevoix-Saguenay type [MESH:C536787] (37)
 Spinocerebellar Ataxia 15 [MESH:C564685] (90)
 Neurobehavioral Manifestations [MESH:D019954] (5230) 
 Lethargy [MESH:D053609] (1035)
 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) 
 MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome [MESH:C536029] (37)
 Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)
 Kleefstra Syndrome [MESH:C563043] (25)
 Proud Syndrome [MESH:C563110] (12)
 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)
 Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65)
 Mental Retardation, Autosomal Recessive 4 [MESH:C567008] (3)
 Mental Retardation, X-Linked, With Panhypopituitarism [MESH:C567485] (18)
 Cri-du-Chat Syndrome [MESH:D003410] (139)
 Williams Syndrome [MESH:D018980] (133)
 Mental Retardation, X-Linked [MESH:D038901] (1854) 
 Partington X-linked mental retardation syndrome [MESH:C536300] (12)
 Mental Retardation, X-Linked 9 [MESH:C563137] (14)
 Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related [MESH:C563150] (12)
 Mental Retardation, X-Linked, Syndromic 14 [MESH:C567063] (30)
 Fragile X Syndrome [MESH:D005600] (353)
 Lesch-Nyhan Syndrome [MESH:D007926] (129)
 Mucopolysaccharidosis II [MESH:D016532] (26)
 Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149) 
 Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)
 Pyruvate Dehydrogenase E2 Deficiency [MESH:C565448] (44)
 Rett Syndrome [MESH:D015518] (143) 
 Epileptic Encephalopathy, Early Infantile, 2 [MESH:C564064] (11)
 Psychomotor Disorders [MESH:D011596] (576) 
 Fumaric aciduria [MESH:C538191] (27)
 Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83)
 Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy [MESH:C567020] (21)
 Apraxias [MESH:D001072] (118)
 Psychomotor Agitation [MESH:D011595] (167)
 Neuromuscular Manifestations [MESH:D020879] (2130) 
 Muscle Weakness [MESH:D018908] (478)
 Muscular Atrophy [MESH:D009133] (1234)
 Spasm [MESH:D013035] (418)
 Muscle Hypertonia [MESH:D009122] (775) 
 Muscle Spasticity [MESH:D009128] (187) 
 Spastic ataxia Charlevoix-Saguenay type [MESH:C536787] (37)
 Muscle Hypotonia [MESH:D009123] (258) 
 Fumaric aciduria [MESH:C538191] (27)
 Three M Syndrome 2 [MESH:C567862] (22)
 Pain [MESH:D010146] (3875) 
 Headache [MESH:D006261] (1416)
 Neuralgia [MESH:D009437] (2074)
 Paralysis [MESH:D010243] (2043) 
 Quadriplegia [MESH:D011782] (115)
 Ophthalmoplegia [MESH:D009886] (1468) 
 Oculootoradial syndrome [MESH:C535544] (14)
 Supranuclear Palsy, Progressive [MESH:D013494] (235)
 Reflex, Abnormal [MESH:D012021] (485) 
 Reflex, Babinski [MESH:D001405] (97)
 Seizures [MESH:D012640] (4514) 
 Partington X-linked mental retardation syndrome [MESH:C536300] (12)
 Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83)
 Alcohol Withdrawal Seizures [MESH:D020270] (64)
 Sensation Disorders [MESH:D012678] (5011) 
 Taste Disorders [MESH:D013651] (461)
 Hearing Disorders [MESH:D006311] (2103) 
 Hearing Loss [MESH:D034381] (2068) 
 Deafness [MESH:D003638] (623) 
 Charcot-Marie-Tooth Disease, Demyelinating, Type 1e [MESH:C566136] (76)
 Hearing Loss, Bilateral [MESH:D006312] (55) 
 Oculootoradial syndrome [MESH:C535544] (14)
 Hearing Loss, Sensorineural [MESH:D006319] (1227) 
 Chudley-Mccullough syndrome [MESH:C535459] (45)
 Griscelli syndrome type 1 [MESH:C537301] (42)
 Bjornstad syndrome [MESH:C537633] (23)
 Barakat syndrome [MESH:C537907] (71)
 Deafness, Autosomal Dominant 9 [MESH:C563335] (33)
 Deafness, Autosomal Recessive 37 [MESH:C564331] (35)
 Deafness, Autosomal Recessive 28 [MESH:C565218] (26)
 Hearing Loss, Noise-Induced [MESH:D006317] (134)
 Hearing Loss, Central [MESH:D006313] (140) 
 Auditory Neuropathy, Autosomal Dominant, 1 [MESH:C563790] (92)
 Somatosensory Disorders [MESH:D020886] (4000) 
 Hyperalgesia [MESH:D006930] (3929)
 Paresthesia [MESH:D010292] (416)
 Neuromuscular Diseases [MESH:D009468] (7336) 
 Motor Neuron Disease [MESH:D016472] (3670) 
 Primary lateral sclerosis juvenile [MESH:C536416] (29)
 Lethal Arthrogryposis With Anterior Horn Cell Disease [MESH:C567502] (14)
 Amyotrophic Lateral Sclerosis [MESH:D000690] (3296) 
 Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559)
 Amyotrophic Lateral Sclerosis 2, Juvenile [MESH:C565957] (29)
 Muscular Atrophy, Spinal [MESH:D009134] (850) 
 Bulbo-Spinal Atrophy, X-Linked [MESH:D055534] (566) 
 Bulbospinal neuronopathy, X-linked recessive [MESH:C537017] (565)
 Muscular Diseases [MESH:D009135] (3538) 
 Myopathy, Reducing Body, X-Linked, Childhood-Onset [MESH:C567468] (64)
 Myopathy, Reducing Body, X-Linked, Early-Onset, Severe [MESH:C567469] (64)
 Muscular Disorders, Atrophic [MESH:D020966] (1594) 
 Muscular Dystrophies [MESH:D009136] (1589) 
 Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854)
 Muscular Dystrophies, Limb-Girdle [MESH:D049288] (259) 
 Sarcoglycanopathies [MESH:D058088] (49) 
 Limb-girdle muscular dystrophy, type 2C [MESH:C535900] (20)
 Muscular Dystrophy, Emery-Dreifuss [MESH:D020389] (169) 
 Myopathy, X-Linked, With Postural Muscle Atrophy [MESH:C567480] (64)
 Scapuloperoneal Myopathy, X-Linked Dominant [MESH:C567481] (64)
 Mitochondrial Myopathies [MESH:D017240] (2176) 
 Mitochondrial Encephalomyopathies [MESH:D017237] (1121)
 Myositis [MESH:D009220] (2069) 
 Dermatomyositis [MESH:D003882] (1826)
 Polymyositis [MESH:D017285] (2007) 
 Dermatomyositis [MESH:D003882] (1826)
 Peripheral Nervous System Diseases [MESH:D010523] (6151) 
 Diabetic Neuropathies [MESH:D003929] (2442)
 Neuralgia [MESH:D009437] (2078)
 Neurofibromatosis 1 [MESH:D009456] (117)
 Brachial Plexus Neuropathies [MESH:D020516] (37) 
 Brachial Plexus Neuritis [MESH:D020968] (31)
 Neuritis [MESH:D009443] (55) 
 Brachial Plexus Neuritis [MESH:D020968] (31)
 Polyneuropathies [MESH:D011115] (1134) 
 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract [MESH:C567203] (27)
 Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172)
 Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899) 
 Charcot-Marie-Tooth Disease [MESH:D002607] (627) 
 Charcot-Marie-Tooth Disease, Demyelinating, Type 1e [MESH:C566136] (76)
 Charcot-Marie-Tooth Disease, Axonal, Type 2n [MESH:C567653] (33)
 Spastic Paraplegia, Hereditary [MESH:D015419] (449) 
 MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome [MESH:C536029] (37)
 Spastic paraplegia 20, autosomal recessive [MESH:C536858] (24)
 Hereditary spastic paralysis, infantile onset ascending [MESH:C537217] (29)
 Polyradiculoneuropathy [MESH:D011129] (213) 
 Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172)
 Neurotoxicity Syndromes [MESH:D020258] (4570) 
 Alcohol-Induced Disorders, Nervous System [MESH:D020268] (128) 
 Alcohol Withdrawal Seizures [MESH:D020270] (64)
 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) 
 Disorders of Excessive Somnolence [MESH:D006970] (581) 
 Narcolepsy [MESH:D009290] (478)
 Sleep Apnea Syndromes [MESH:D012891] (570) 
 Sleep Apnea, Central [MESH:D020182] (347) 
 Congenital central hypoventilation syndrome [MESH:C536209] (341)
 Trauma, Nervous System [MESH:D020196] (3997) 
 Spinal Cord Injuries [MESH:D013119] (1676)
 Craniocerebral Trauma [MESH:D006259] (3507) 
 Brain Injuries [MESH:D001930] (3431)
C11. Eye Diseases 
C11. Eye Diseases
 Eye Diseases [MESH:D005128] (6245) 
 Corneal Diseases [MESH:D003316] (1445) 
 Corneal Neovascularization [MESH:D016510] (622)
 Keratoconus [MESH:D007640] (121)
 Corneal Dystrophies, Hereditary [MESH:D003317] (341) 
 Corneal dystrophy, gelatinous drop-like [MESH:C535480] (37)
 Doyne honeycomb retinal dystrophy [MESH:C535602] (44)
 Corneal Opacity [MESH:D003318] (544) 
 Peters anomaly [MESH:C537884] (465)
 Eye Abnormalities [MESH:D005124] (1233) 
 Peters anomaly [MESH:C537884] (465)
 Popliteal Pterygium Syndrome [MESH:C562509] (33)
 Eye Diseases, Hereditary [MESH:D015785] (1869) 
 Duane Retraction Syndrome [MESH:D004370] (43)
 Graves Ophthalmopathy [MESH:D049970] (165)
 Corneal Dystrophies, Hereditary [MESH:D003317] (341) 
 Corneal dystrophy, gelatinous drop-like [MESH:C535480] (37)
 Doyne honeycomb retinal dystrophy [MESH:C535602] (44)
 Leber Congenital Amaurosis [MESH:D057130] (157) 
 Leber Congenital Amaurosis 3 [MESH:C565814] (38)
 Retinitis Pigmentosa [MESH:D012174] (414) 
 Leber Congenital Amaurosis 3 [MESH:C565814] (38)
 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract [MESH:C567203] (27)
 Eye Neoplasms [MESH:D005134] (413) 
 Uveal Neoplasms [MESH:D014604] (115) 
 Uveal melanoma [MESH:C536494] (109)
 Lens Diseases [MESH:D007905] (900) 
 Cataract [MESH:D002386] (860) 
 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract [MESH:C567203] (27)
 Ocular Hypertension [MESH:D009798] (1630) 
 Glaucoma [MESH:D005901] (1458) 
 Glaucoma 3, Primary Congenital, A [MESH:C565547] (434)
 Glaucoma, Open-Angle [MESH:D005902] (1281) 
 Glaucoma, Primary Open Angle [MESH:C562750] (466)
 Glaucoma 1, Open Angle, A [MESH:C564234] (446)
 Ocular Motility Disorders [MESH:D015835] (1699) 
 Duane Retraction Syndrome [MESH:D004370] (43)
 Ophthalmoplegia [MESH:D009886] (1468) 
 Oculootoradial syndrome [MESH:C535544] (14)
 Supranuclear Palsy, Progressive [MESH:D013494] (235)
 Optic Nerve Diseases [MESH:D009901] (1377) 
 Optic Atrophy [MESH:D009896] (1203)
 Orbital Diseases [MESH:D009916] (317) 
 Exophthalmos [MESH:D005094] (297) 
 Graves Disease [MESH:D006111] (278) 
 Graves Ophthalmopathy [MESH:D049970] (165)
 Refractive Errors [MESH:D012030] (457) 
 Anisometropia [MESH:D015858] (152)
 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) 
 Leber Congenital Amaurosis 3 [MESH:C565814] (38)
 Retinal Degeneration [MESH:D012162] (2386) 
 Macular Degeneration [MESH:D008268] (995) 
 Fundus Dystrophy, Pseudoinflammatory, Of Sorsby [MESH:C564992] (121)
 Macular Edema [MESH:D008269] (557)
 Retinal Dystrophies [MESH:D058499] (1315) 
 Retinitis Pigmentosa [MESH:D012174] (1307) 
 Leber Congenital Amaurosis 3 [MESH:C565814] (38)
 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract [MESH:C567203] (27)
 Uveal Diseases [MESH:D014603] (2428) 
 Uveitis [MESH:D014605] (2157)
 Choroid Diseases [MESH:D015862] (595) 
 Choroidal Neovascularization [MESH:D020256] (550)
 Uveal Neoplasms [MESH:D014604] (115) 
 Uveal melanoma [MESH:C536494] (109)
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) 
 Prostate cancer, familial [MESH:C537243] (264)
 Testicular Neoplasms [MESH:D013736] (520) 
 Sertoli-Leydig Cell Tumor [MESH:D018310] (272) 
 Leydig Cell Tumor [MESH:D007984] (267)
 Infertility [MESH:D007246] (2909) 
 Infertility, Male [MESH:D007248] (2851) 
 Azoospermia [MESH:D053713] (1052)
 Oligospermia [MESH:D009845] (799)
 Penile Diseases [MESH:D010409] (1805) 
 Penile Neoplasms [MESH:D010412] (890)
 Hypospadias [MESH:D007021] (798) 
 Hypospadias 1, X-Linked [MESH:C567482] (571)
 Prostatic Diseases [MESH:D011469] (6204) 
 Prostatic Hyperplasia [MESH:D011470] (336)
 Prostatic Neoplasms [MESH:D011471] (6135) 
 Prostate cancer, familial [MESH:C537243] (264)
 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)
 Urogenital Abnormalities [MESH:D014564] (2065) 
 Popliteal Pterygium Syndrome [MESH:C562509] (33)
 Proud Syndrome [MESH:C563110] (12)
 Lissencephaly, X-Linked, 2 [MESH:C564563] (12)
 Disorders of Sex Development [MESH:D012734] (1637) 
 46, XX Disorders of Sex Development [MESH:D058489] (644) 
 Hyperandrogenism [MESH:D017588] (98)
 46, XY Disorders of Sex Development [MESH:D058490] (1060) 
 Androgen-Insensitivity Syndrome [MESH:D013734] (567)
 Kallmann Syndrome [MESH:D017436] (147)
 Adrenogenital Syndrome [MESH:D047808] (715) 
 Hyperandrogenism [MESH:D017588] (98)
 Hypospadias [MESH:D007021] (798) 
 Hypospadias 1, X-Linked [MESH:C567482] (571)
 Nephritis, Hereditary [MESH:D009394] (62) 
 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)
 Urogenital Neoplasms [MESH:D014565] (6932) 
 Genital Neoplasms, Male [MESH:D005834] (6224) 
 Penile Neoplasms [MESH:D010412] (890)
 Prostatic Neoplasms [MESH:D011471] (6135) 
 Prostate cancer, familial [MESH:C537243] (264)
 Testicular Neoplasms [MESH:D013736] (520) 
 Sertoli-Leydig Cell Tumor [MESH:D018310] (272) 
 Leydig Cell Tumor [MESH:D007984] (267)
 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)
 Urologic Diseases [MESH:D014570] (7792) 
 Kidney Diseases [MESH:D007674] (7242) 
 Hereditary renal agenesis [MESH:C536482] (89)
 Diabetic Nephropathies [MESH:D003928] (2301)
 Hepatorenal Syndrome [MESH:D006530] (910)
 Hydronephrosis [MESH:D006869] (956)
 Hyperoxaluria [MESH:D006959] (1498)
 Zellweger Syndrome [MESH:D015211] (182)
 Kidney Diseases, Cystic [MESH:D052177] (1009) 
 Nephronophthisis 3 [MESH:C565780] (11)
 Polycystic Kidney Diseases [MESH:D007690] (853) 
 Polycystic Kidney, Autosomal Recessive [MESH:D017044] (462)
 Kidney Neoplasms [MESH:D007680] (3966) 
 Oncocytoma, renal [MESH:C537750] (35)
 Carcinoma, Renal Cell [MESH:D002292] (2975)
 Wilms Tumor [MESH:D009396] (553)
 Nephritis [MESH:D009393] (4236) 
 Glomerulonephritis [MESH:D005921] (3758) 
 Glomerulosclerosis, Focal Segmental [MESH:D005923] (1754)
 Nephritis, Hereditary [MESH:D009394] (62) 
 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)
 Nephrosis [MESH:D009401] (2228) 
 Barakat syndrome [MESH:C537907] (71)
 Nephrotic Syndrome [MESH:D009404] (1536)
 Renal Insufficiency [MESH:D051437] (4951) 
 Acute Kidney Injury [MESH:D058186] (4142)
 Renal Insufficiency, Chronic [MESH:D051436] (2931) 
 Kidney Failure, Chronic [MESH:D007676] (2930)
 Renal Tubular Transport, Inborn Errors [MESH:D015499] (1058) 
 Acidosis, Renal Tubular [MESH:D000141] (225) 
 Osteopetrosis with renal tubular acidosis [MESH:C536058] (130)
 Hypophosphatemia, Familial [MESH:D007015] (276) 
 Familial Hypophosphatemic Rickets [MESH:D053098] (274) 
 Vitamin D Hydroxylation-Deficient Rickets, Type 1B [MESH:C564005] (25)
 Renal Aminoacidurias [MESH:D000608] (95) 
 Finnish lethal neonatal metabolic syndrome [MESH:C537934] (23)
 Uremia [MESH:D014511] (2898) 
 Hemolytic-Uremic Syndrome [MESH:D006463] (2435)
 Ureteral Diseases [MESH:D014515] (1024) 
 Ureteral Neoplasms [MESH:D014516] (574)
 Ureteral Obstruction [MESH:D014517] (575)
 Urinary Bladder Diseases [MESH:D001745] (4374) 
 Urinary Bladder Neoplasms [MESH:D001749] (4079)
 Urinary Bladder, Overactive [MESH:D053201] (530)
 Urination Disorders [MESH:D014555] (3598) 
 Polyuria [MESH:D011141] (279)
 Urinary Retention [MESH:D016055] (411)
 Proteinuria [MESH:D011507] (3293) 
 Albuminuria [MESH:D000419] (2394)
 Hemoglobinuria [MESH:D006456] (75) 
 CD59 Deficiency [MESH:C567355] (57)
C13. Female Urogenital Diseases and Pregnancy Complications 
C13. Female Urogenital Diseases and Pregnancy Complications
 Z. Exceptions (1116) 
 Not Fully Specified [NFS] (1116)
 Female Urogenital Diseases [MESH:D052776] (8724) 
 Genital Diseases, Female [MESH:D005831] (5563) 
 Endometriosis [MESH:D004715] (2461)
 Sexual Dysfunction, Physiological [MESH:D012735] (270)
 Adnexal Diseases [MESH:D000291] (4273) 
 Ovarian Diseases [MESH:D010049] (4255) 
 Ovarian Cysts [MESH:D010048] (2534) 
 Polycystic Ovary Syndrome [MESH:D011085] (2186)
 Ovarian Neoplasms [MESH:D010051] (3281) 
 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) 
 Endometrial Hyperplasia [MESH:D004714] (263)
 Uterine Cervical Diseases [MESH:D002577] (988) 
 Uterine Cervical Neoplasms [MESH:D002583] (978)
 Uterine Neoplasms [MESH:D014594] (2430) 
 Reed's syndrome [MESH:C535516] (27)
 Endometrial Neoplasms [MESH:D016889] (1984)
 Uterine Cervical Neoplasms [MESH:D002583] (978)
 Vaginal Diseases [MESH:D014623] (446) 
 Vaginal Neoplasms [MESH:D014625] (363)
 Urogenital Abnormalities [MESH:D014564] (2043) 
 Popliteal Pterygium Syndrome [MESH:C562509] (33)
 Proud Syndrome [MESH:C563110] (12)
 Lissencephaly, X-Linked, 2 [MESH:C564563] (12)
 Disorders of Sex Development [MESH:D012734] (1637) 
 46, XX Disorders of Sex Development [MESH:D058489] (644) 
 Hyperandrogenism [MESH:D017588] (98)
 46, XY Disorders of Sex Development [MESH:D058490] (1060) 
 Androgen-Insensitivity Syndrome [MESH:D013734] (567)
 Kallmann Syndrome [MESH:D017436] (147)
 Adrenogenital Syndrome [MESH:D047808] (715) 
 Hyperandrogenism [MESH:D017588] (98)
 Hypospadias [MESH:D007021] (798) 
 Hypospadias 1, X-Linked [MESH:C567482] (571)
 Nephritis, Hereditary [MESH:D009394] (62) 
 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)
 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) 
 Reed's syndrome [MESH:C535516] (27)
 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)
 Urologic Diseases [MESH:D014570] (7793) 
 Kidney Diseases [MESH:D007674] (7242) 
 Hereditary renal agenesis [MESH:C536482] (89)
 Diabetic Nephropathies [MESH:D003928] (2301)
 Hepatorenal Syndrome [MESH:D006530] (910)
 Hydronephrosis [MESH:D006869] (956)
 Hyperoxaluria [MESH:D006959] (1498)
 Zellweger Syndrome [MESH:D015211] (182)
 Kidney Diseases, Cystic [MESH:D052177] (1009) 
 Nephronophthisis 3 [MESH:C565780] (11)
 Polycystic Kidney Diseases [MESH:D007690] (853) 
 Polycystic Kidney, Autosomal Recessive [MESH:D017044] (462)
 Kidney Neoplasms [MESH:D007680] (3966) 
 Oncocytoma, renal [MESH:C537750] (35)
 Carcinoma, Renal Cell [MESH:D002292] (2975)
 Wilms Tumor [MESH:D009396] (553)
 Nephritis [MESH:D009393] (4236) 
 Glomerulonephritis [MESH:D005921] (3758) 
 Glomerulosclerosis, Focal Segmental [MESH:D005923] (1754)
 Nephritis, Hereditary [MESH:D009394] (62) 
 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)
 Nephrosis [MESH:D009401] (2228) 
 Barakat syndrome [MESH:C537907] (71)
 Nephrotic Syndrome [MESH:D009404] (1536)
 Renal Insufficiency [MESH:D051437] (4951) 
 Acute Kidney Injury [MESH:D058186] (4142)
 Renal Insufficiency, Chronic [MESH:D051436] (2931) 
 Kidney Failure, Chronic [MESH:D007676] (2930)
 Renal Tubular Transport, Inborn Errors [MESH:D015499] (1058) 
 Acidosis, Renal Tubular [MESH:D000141] (225) 
 Osteopetrosis with renal tubular acidosis [MESH:C536058] (130)
 Hypophosphatemia, Familial [MESH:D007015] (276) 
 Familial Hypophosphatemic Rickets [MESH:D053098] (274) 
 Vitamin D Hydroxylation-Deficient Rickets, Type 1B [MESH:C564005] (25)
 Renal Aminoacidurias [MESH:D000608] (95) 
 Finnish lethal neonatal metabolic syndrome [MESH:C537934] (23)
 Uremia [MESH:D014511] (2898) 
 Hemolytic-Uremic Syndrome [MESH:D006463] (2435)
 Ureteral Diseases [MESH:D014515] (1024) 
 Ureteral Neoplasms [MESH:D014516] (574)
 Ureteral Obstruction [MESH:D014517] (575)
 Urinary Bladder Diseases [MESH:D001745] (4375) 
 Urinary Bladder Neoplasms [MESH:D001749] (4079)
 Urinary Bladder, Overactive [MESH:D053201] (530)
 Urination Disorders [MESH:D014555] (3598) 
 Polyuria [MESH:D011141] (279)
 Urinary Retention [MESH:D016055] (411)
 Proteinuria [MESH:D011507] (3293) 
 Albuminuria [MESH:D000419] (2394)
 Hemoglobinuria [MESH:D006456] (75) 
 CD59 Deficiency [MESH:C567355] (57)
 Pregnancy Complications [MESH:D011248] (4768) 
 Diabetes, Gestational [MESH:D016640] (1157)
 Pregnancy Complications, Cardiovascular [MESH:D011249] (1994)
 Prenatal Injuries [MESH:D049188] (1314)
 Abortion, Spontaneous [MESH:D000022] (2780) 
 Embryo Loss [MESH:D020964] (288)
 Fetal Death [MESH:D005313] (464) 
 Fetal Resorption [MESH:D005327] (302)
 Fetal Diseases [MESH:D005315] (1206) 
 Fetal Growth Retardation [MESH:D005317] (986) 
 Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)
 Finnish lethal neonatal metabolic syndrome [MESH:C537934] (23)
 Microcephalic Osteodysplastic Primordial Dwarfism, Type II [MESH:C565898] (7)
 Obstetric Labor Complications [MESH:D007744] (1550) 
 Abruptio Placentae [MESH:D000037] (430)
 Obstetric Labor, Premature [MESH:D007752] (1316)
 Placenta Diseases [MESH:D010922] (1781) 
 Abruptio Placentae [MESH:D000037] (430)
 Polyhydramnios [MESH:D006831] (123) 
 Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy [MESH:C567020] (21)
 Puerperal Disorders [MESH:D011644] (324) 
 Lactation Disorders [MESH:D007775] (235) 
 Galactorrhea [MESH:D005687] (233)
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)
 VACTERL hydrocephaly [MESH:C536521] (151)
 TARP syndrome [MESH:C536942] (18)
 Kleefstra Syndrome [MESH:C563043] (25)
 Alagille Syndrome [MESH:D016738] (105)
 LEOPARD Syndrome [MESH:D044542] (299)
 Tetralogy of Fallot [MESH:D013771] (121)
 22q11 Deletion Syndrome [MESH:D058165] (237) 
 DiGeorge Syndrome [MESH:D004062] (236)
 Arrhythmogenic Right Ventricular Dysplasia [MESH:D019571] (241) 
 Naxos disease [MESH:C538346] (51)
 Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 [MESH:C566471] (47)
 Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 [MESH:C566925] (51)
 Heart Septal Defects [MESH:D006343] (385) 
 Aortopulmonary Septal Defect [MESH:D001028] (47) 
 Truncus Arteriosus, Persistent [MESH:D014339] (45)
 Heart Septal Defects, Atrial [MESH:D006344] (209) 
 Rapadilino syndrome [MESH:C535288] (30)
 Noonan Syndrome [MESH:D009634] (506) 
 Noonan syndrome 3 [MESH:C537847] (118)
 Vascular Malformations [MESH:D054079] (1098) 
 Arteriovenous Malformations [MESH:D001165] (1058) 
 Capillary Malformation-Arteriovenous Malformation [MESH:C564254] (50)
 Intracranial Arteriovenous Malformations [MESH:D002538] (1015)
 Central Nervous System Vascular Malformations [MESH:D020785] (1031) 
 Intracranial Arteriovenous Malformations [MESH:D002538] (1015)
 Heart Diseases [MESH:D006331] (8614) 
 Heart Arrest [MESH:D006323] (1926)
 Arrhythmias, Cardiac [MESH:D001145] (4679) 
 Atrial Fibrillation [MESH:D001281] (1053)
 Bradycardia [MESH:D001919] (1899)
 Long QT Syndrome [MESH:D008133] (693)
 Tachycardia [MESH:D013610] (3339)
 Cardiomegaly [MESH:D006332] (4081) 
 Hypertrophy, Left Ventricular [MESH:D017379] (1430)
 Cardiomyopathy, Dilated [MESH:D002311] (1576) 
 Cardiomyopathy, Dilated, 1t [MESH:C566052] (76)
 Cardiomyopathy, Dilated, 1y [MESH:C567507] (103)
 Cardiomyopathies [MESH:D009202] (5331) 
 Diabetic Cardiomyopathies [MESH:D058065] (1995)
 Myocardial Reperfusion Injury [MESH:D015428] (3500)
 Myocarditis [MESH:D009205] (1708)
 Arrhythmogenic Right Ventricular Dysplasia [MESH:D019571] (241) 
 Naxos disease [MESH:C538346] (51)
 Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 [MESH:C566471] (47)
 Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 [MESH:C566925] (51)
 Cardiomyopathy, Dilated [MESH:D002311] (1576) 
 Cardiomyopathy, Dilated, 1t [MESH:C566052] (76)
 Cardiomyopathy, Dilated, 1y [MESH:C567507] (103)
 Cardiomyopathy, Hypertrophic [MESH:D002312] (1516) 
 Cardiomyopathy, Hypertrophic, Familial [MESH:D024741] (339) 
 Cardiomyopathy, Familial Hypertrophic, 3 [MESH:C566170] (103)
 Sarcoglycanopathies [MESH:D058088] (49) 
 Limb-girdle muscular dystrophy, type 2C [MESH:C535900] (20)
 Heart Defects, Congenital [MESH:D006330] (2443) 
 Cardiofaciocutaneous syndrome [MESH:C535579] (407)
 VACTERL hydrocephaly [MESH:C536521] (151)
 TARP syndrome [MESH:C536942] (18)
 Kleefstra Syndrome [MESH:C563043] (25)
 LEOPARD Syndrome [MESH:D044542] (299)
 Tetralogy of Fallot [MESH:D013771] (121)
 22q11 Deletion Syndrome [MESH:D058165] (237) 
 DiGeorge Syndrome [MESH:D004062] (236)
 Arrhythmogenic Right Ventricular Dysplasia [MESH:D019571] (241) 
 Naxos disease [MESH:C538346] (51)
 Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 [MESH:C566471] (47)
 Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 [MESH:C566925] (51)
 Heart Septal Defects [MESH:D006343] (385) 
 Aortopulmonary Septal Defect [MESH:D001028] (47) 
 Truncus Arteriosus, Persistent [MESH:D014339] (45)
 Heart Septal Defects, Atrial [MESH:D006344] (209) 
 Rapadilino syndrome [MESH:C535288] (30)
 Noonan Syndrome [MESH:D009634] (506) 
 Noonan syndrome 3 [MESH:C537847] (118)
 Heart Failure [MESH:D006333] (4058) 
 Edema, Cardiac [MESH:D004489] (27)
 Heart Valve Diseases [MESH:D006349] (3333) 
 Aortic Valve Insufficiency [MESH:D001022] (1002)
 Aortic Valve Stenosis [MESH:D001024] (1742) 
 Aortic Stenosis, Subvalvular [MESH:D001020] (1455) 
 Cardiomyopathy, Hypertrophic [MESH:D002312] (1451)
 Aortic Stenosis, Supravalvular [MESH:D021921] (135) 
 Williams Syndrome [MESH:D018980] (133)
 Pulmonary Valve Stenosis [MESH:D011666] (360) 
 Keutel syndrome [MESH:C536167] (102)
 LEOPARD Syndrome [MESH:D044542] (299)
 Myocardial Ischemia [MESH:D017202] (5787) 
 Acute Coronary Syndrome [MESH:D054058] (2286)
 Myocardial Reperfusion Injury [MESH:D015428] (3500)
 Myocardial Stunning [MESH:D017682] (1816)
 Angina Pectoris [MESH:D000787] (2575) 
 Acute Coronary Syndrome [MESH:D054058] (2286)
 Angina, Stable [MESH:D060050] (1702)
 Coronary Disease [MESH:D003327] (3439) 
 Coronary Artery Disease [MESH:D003324] (2685) 
 Coronary Artery Disease, Autosomal Dominant, 1 [MESH:C564258] (46)
 Coronary Stenosis [MESH:D023921] (1806) 
 Coronary Restenosis [MESH:D023903] (1683)
 Myocardial Infarction [MESH:D009203] (4122) 
 Coronary Artery Disease, Autosomal Dominant, 1 [MESH:C564258] (46)
 Myocardial Stunning [MESH:D017682] (1816)
 Ventricular Dysfunction [MESH:D018754] (2348) 
 Ventricular Dysfunction, Left [MESH:D018487] (1631)
 Ventricular Outflow Obstruction [MESH:D014694] (976) 
 Pulmonary Valve Stenosis [MESH:D011666] (109) 
 Keutel syndrome [MESH:C536167] (102)
 Vascular Diseases [MESH:D014652] (8691) 
 Calcification of Joints and Arteries [MESH:C565891] (60)
 Hypotension [MESH:D007022] (4045)
 Pulmonary Veno-Occlusive Disease [MESH:D011668] (55)
 Retinal Vein Occlusion [MESH:D012170] (607)
 Varicose Veins [MESH:D014648] (383)
 Vascular System Injuries [MESH:D057772] (2086)
 Aneurysm [MESH:D000783] (1886) 
 Aneurysm, Dissecting [MESH:D000784] (699) 
 Loeys-Dietz Syndrome [MESH:D055947] (263) 
 Loeys-Dietz Syndrome, Type 2A [MESH:C567156] (78)
 Aneurysm, Ruptured [MESH:D017542] (645) 
 Aortic Rupture [MESH:D001019] (637)
 Aortic Aneurysm [MESH:D001014] (1721) 
 Aortic Rupture [MESH:D001019] (637)
 Aortic Aneurysm, Thoracic [MESH:D017545] (781) 
 Loeys-Dietz Syndrome, Type 2A [MESH:C567156] (78)
 Loeys-Dietz Syndrome [MESH:D055947] (263) 
 Loeys-Dietz Syndrome, Type 2A [MESH:C567156] (78)
 Angiomatosis [MESH:D000798] (620) 
 Sturge-Weber Syndrome [MESH:D013341] (76)
 von Hippel-Lindau Disease [MESH:D006623] (580)
 Aortic Diseases [MESH:D001018] (1737) 
 Aortic Aneurysm [MESH:D001014] (1721) 
 Aortic Rupture [MESH:D001019] (637)
 Aortic Aneurysm, Thoracic [MESH:D017545] (781) 
 Loeys-Dietz Syndrome, Type 2A [MESH:C567156] (78)
 Loeys-Dietz Syndrome [MESH:D055947] (263) 
 Loeys-Dietz Syndrome, Type 2A [MESH:C567156] (78)
 Arterial Occlusive Diseases [MESH:D001157] (4520) 
 Arteriosclerosis [MESH:D001161] (4466) 
 Atherosclerosis [MESH:D050197] (4188)
 Coronary Artery Disease [MESH:D003324] (2685) 
 Coronary Artery Disease, Autosomal Dominant, 1 [MESH:C564258] (46)
 Arteriovenous Malformations [MESH:D001165] (1058) 
 Capillary Malformation-Arteriovenous Malformation [MESH:C564254] (50)
 Intracranial Arteriovenous Malformations [MESH:D002538] (1015)
 Cerebrovascular Disorders [MESH:D002561] (5541) 
 Vasospasm, Intracranial [MESH:D020301] (324)
 Brain Ischemia [MESH:D002545] (4873) 
 Brain Infarction [MESH:D020520] (2571) 
 Cerebral Infarction [MESH:D002544] (2458) 
 Infarction, Middle Cerebral Artery [MESH:D020244] (2268)
 Cerebral Small Vessel Diseases [MESH:D059345] (1292) 
 CADASIL [MESH:D046589] (45)
 Fabry Disease [MESH:D000795] (56)
 Cerebral Amyloid Angiopathy, Familial [MESH:D028243] (377) 
 Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333)
 Intracranial Arterial Diseases [MESH:D020765] (2468) 
 Intracranial Arteriovenous Malformations [MESH:D002538] (1015)
 Cerebral Arterial Diseases [MESH:D002539] (2440) 
 CADASIL [MESH:D046589] (45)
 Infarction, Middle Cerebral Artery [MESH:D020244] (2268)
 Cerebral Amyloid Angiopathy [MESH:D016657] (470) 
 Cerebral Amyloid Angiopathy, Familial [MESH:D028243] (377) 
 Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333)
 Intracranial Hemorrhages [MESH:D020300] (3269) 
 Subarachnoid Hemorrhage [MESH:D013345] (1082)
 Cerebral Hemorrhage [MESH:D002543] (2873) 
 Cerebral hemorrhage with amyloidosis, hereditary, Dutch type [MESH:C537944] (333)
 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) 
 Thrombosis [MESH:D013927] (3101) 
 Venous Thrombosis [MESH:D020246] (1141) 
 Retinal Vein Occlusion [MESH:D012170] (607)
 Hemostatic Disorders [MESH:D020141] (2894) 
 Multiple Myeloma [MESH:D009101] (2765)
 Hypertension [MESH:D006973] (5655) 
 Hypertension, Essential [MESH:C562386] (1308)
 Myocardial Ischemia [MESH:D017202] (5791) 
 Acute Coronary Syndrome [MESH:D054058] (2286)
 Myocardial Reperfusion Injury [MESH:D015428] (3500)
 Myocardial Stunning [MESH:D017682] (1816)
 Angina Pectoris [MESH:D000787] (2575) 
 Acute Coronary Syndrome [MESH:D054058] (2286)
 Angina, Stable [MESH:D060050] (1702)
 Coronary Disease [MESH:D003327] (3439) 
 Coronary Artery Disease [MESH:D003324] (2685) 
 Coronary Artery Disease, Autosomal Dominant, 1 [MESH:C564258] (46)
 Coronary Stenosis [MESH:D023921] (1806) 
 Coronary Restenosis [MESH:D023903] (1683)
 Myocardial Infarction [MESH:D009203] (4151) 
 Coronary Artery Disease, Autosomal Dominant, 1 [MESH:C564258] (46)
 Myocardial Stunning [MESH:D017682] (1816)
 No-Reflow Phenomenon [MESH:D054318] (277)
 Reperfusion Injury [MESH:D015427] (4968) 
 Myocardial Reperfusion Injury [MESH:D015428] (3500)
C15. Hemic and Lymphatic Diseases 
C15. Hemic and Lymphatic Diseases
 Hematologic Diseases [MESH:D006402] (6174) 
 Kabuki syndrome [MESH:C537705] (9)
 Pancytopenia [MESH:D010198] (332)
 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) 
 Fanconi Anemia [MESH:D005199] (1604) 
 Fanconi Anemia, Complementation Group I [MESH:C563802] (34)
 Fanconi Anemia, Complementation Group D1 [MESH:C563980] (68)
 Anemia, Hemolytic [MESH:D000743] (3083) 
 CD59 Deficiency [MESH:C567355] (57)
 Hemolytic-Uremic Syndrome [MESH:D006463] (2435)
 Anemia, Hemolytic, Congenital [MESH:D000745] (2001) 
 Anemia, Dyserythropoietic, Congenital [MESH:D000742] (81)
 Anemia, Hemolytic, Congenital Nonspherocytic [MESH:D000746] (308)
 Anemia, Sickle Cell [MESH:D000755] (1722)
 Spherocytosis, Hereditary [MESH:D013103] (137)
 Elliptocytosis, Hereditary [MESH:D004612] (95) 
 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)
 Thalassemia [MESH:D013789] (501) 
 beta-Thalassemia [MESH:D017086] (458)
 Anemia, Hypochromic [MESH:D000747] (616) 
 Anemia, Iron-Deficiency [MESH:D018798] (547)
 Anemia, Macrocytic [MESH:D000748] (382) 
 Anemia, Megaloblastic [MESH:D000749] (288)
 Blood Coagulation Disorders [MESH:D001778] (1828) 
 Scott Syndrome [MESH:C563120] (17)
 Disseminated Intravascular Coagulation [MESH:D004211] (462)
 Blood Coagulation Disorders, Inherited [MESH:D025861] (720) 
 Activated Protein C Resistance [MESH:D020016] (140)
 Coagulation Protein Disorders [MESH:D020147] (580) 
 Activated Protein C Resistance [MESH:D020016] (140)
 Purpura [MESH:D011693] (475) 
 Purpura, Thrombocytopenic [MESH:D011696] (237) 
 Purpura, Thrombotic Thrombocytopenic [MESH:D011697] (222)
 Blood Group Incompatibility [MESH:D001787] (277) 
 Erythroblastosis, Fetal [MESH:D004899] (275) 
 Kernicterus [MESH:D007647] (256)
 Blood Platelet Disorders [MESH:D001791] (3174) 
 Thrombocytopenia [MESH:D013921] (2966) 
 Oculootoradial syndrome [MESH:C535544] (14)
 Thrombotic Microangiopathies [MESH:D057049] (2598) 
 Hemolytic-Uremic Syndrome [MESH:D006463] (2435)
 Purpura, Thrombocytopenic [MESH:D011696] (237) 
 Purpura, Thrombotic Thrombocytopenic [MESH:D011697] (222)
 Blood Protein Disorders [MESH:D001796] (3051) 
 Hypergammaglobulinemia [MESH:D006942] (137)
 Hypoproteinemia [MESH:D007019] (1335) 
 Hypoalbuminemia [MESH:D034141] (1332)
 Paraproteinemias [MESH:D010265] (2781) 
 Multiple Myeloma [MESH:D009101] (2765)
 Bone Marrow Diseases [MESH:D001855] (2944) 
 Myelodysplastic-Myeloproliferative Diseases [MESH:D054437] (376)
 Anemia, Aplastic [MESH:D000741] (1925) 
 Anemia, Hypoplastic, Congenital [MESH:D029502] (1665) 
 Fanconi Anemia [MESH:D005199] (1604) 
 Fanconi Anemia, Complementation Group I [MESH:C563802] (34)
 Fanconi Anemia, Complementation Group D1 [MESH:C563980] (68)
 Myelodysplastic Syndromes [MESH:D009190] (2093) 
 Anemia, Refractory [MESH:D000753] (1567)
 Anemia, Sideroblastic [MESH:D000756] (636)
 Myeloproliferative Disorders [MESH:D009196] (1492) 
 Myeloproliferative Disorder, Chronic, with Eosinophilia [MESH:C565054] (134)
 Leukemia, Erythroblastic, Acute [MESH:D004915] (89)
 Leukemia, Myelogenous, Chronic, BCR-ABL Positive [MESH:D015464] (1032)
 Primary Myelofibrosis [MESH:D055728] (165) 
 Familial myelofibrosis [MESH:C536848] (21)
 Hemoglobinopathies [MESH:D006453] (1863) 
 Anemia, Sickle Cell [MESH:D000755] (1722)
 Thalassemia [MESH:D013789] (511) 
 beta-Thalassemia [MESH:D017086] (458)
 Hemorrhagic Disorders [MESH:D006474] (3359) 
 Disseminated Intravascular Coagulation [MESH:D004211] (462)
 Hemostatic Disorders [MESH:D020141] (2932) 
 Multiple Myeloma [MESH:D009101] (2765)
 Leukocyte Disorders [MESH:D007960] (2662) 
 Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78)
 Pelger-Huet Anomaly [MESH:D010381] (28)
 Eosinophilia [MESH:D004802] (537) 
 Myeloproliferative Disorder, Chronic, with Eosinophilia [MESH:C565054] (134)
 Hypereosinophilic Syndrome [MESH:D017681] (119)
 Leukopenia [MESH:D007970] (1921) 
 Agranulocytosis [MESH:D000380] (1675) 
 Neutropenia [MESH:D009503] (1629) 
 Neutropenia, Severe Congenital, Autosomal Recessive 3 [MESH:C537592] (21)
 Phagocyte Bactericidal Dysfunction [MESH:D010585] (998) 
 Job Syndrome [MESH:D007589] (772) 
 Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant [MESH:C567925] (283)
 Thrombophilia [MESH:D019851] (592) 
 Activated Protein C Resistance [MESH:D020016] (140)
 Disseminated Intravascular Coagulation [MESH:D004211] (462)
 Purpura, Thrombotic Thrombocytopenic [MESH:D011697] (222)
 Lymphatic Diseases [MESH:D008206] (5167) 
 Lymphedema [MESH:D008209] (162)
 Splenic Diseases [MESH:D013158] (1323)
 Lymphatic Abnormalities [MESH:D044148] (251) 
 22q11 Deletion Syndrome [MESH:D058165] (237) 
 DiGeorge Syndrome [MESH:D004062] (236)
 Lymphoproliferative Disorders [MESH:D008232] (4638) 
 Giant Lymph Node Hyperplasia [MESH:D005871] (1013)
 Leukemia, Lymphoid [MESH:D007945] (3047) 
 Leukemia, T-Cell [MESH:D015458] (395)
 Leukemia, B-Cell [MESH:D015448] (2564) 
 Leukemia, Lymphocytic, Chronic, B-Cell [MESH:D015451] (2562)
 Precursor Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054198] (1754) 
 Precursor B-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D015452] (354)
 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054218] (510)
 Lymphangiomyoma [MESH:D008203] (163) 
 Lymphangioleiomyomatosis [MESH:D018192] (162)
 Lymphoma [MESH:D008223] (3684) 
 Hodgkin Disease [MESH:D006689] (1082)
 Lymphoma, Non-Hodgkin [MESH:D008228] (3330) 
 Burkitt Lymphoma [MESH:D002051] (691)
 Lymphoma, Follicular [MESH:D008224] (1025)
 Lymphoma, Large-Cell, Anaplastic [MESH:D017728] (420)
 Lymphoma, B-Cell [MESH:D016393] (2624) 
 Burkitt Lymphoma [MESH:D002051] (691)
 Lymphoma, Large B-Cell, Diffuse [MESH:D016403] (2012)
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) 
 Hereditary renal agenesis [MESH:C536482] (89)
 Respiratory System Abnormalities [MESH:D015619] (244)
 Abnormalities, Multiple [MESH:D000015] (3192) 
 Oculootoradial syndrome [MESH:C535544] (14)
 Keutel syndrome [MESH:C536167] (102)
 Van der Woude syndrome [MESH:C536528] (33)
 Kabuki syndrome [MESH:C537705] (9)
 Renal hepatic pancreatic dysplasia Dandy Walker cyst [MESH:C537756] (11)
 Alagille Syndrome [MESH:D016738] (105)
 Angelman Syndrome [MESH:D017204] (124)
 Bardet-Biedl Syndrome [MESH:D020788] (110)
 Beckwith-Wiedemann Syndrome [MESH:D001506] (193)
 Bloom Syndrome [MESH:D001816] (107)
 Costello Syndrome [MESH:D056685] (407)
 Cri-du-Chat Syndrome [MESH:D003410] (139)
 LEOPARD Syndrome [MESH:D044542] (299)
 Nevus, Sebaceous of Jadassohn [MESH:D054000] (209)
 Proteus Syndrome [MESH:D016715] (152)
 Silver-Russell Syndrome [MESH:D056730] (142)
 Smith-Lemli-Opitz Syndrome [MESH:D019082] (100)
 Wolf-Hirschhorn Syndrome [MESH:D054877] (72)
 Zellweger Syndrome [MESH:D015211] (182)
 22q11 Deletion Syndrome [MESH:D058165] (237) 
 DiGeorge Syndrome [MESH:D004062] (236)
 Ectodermal Dysplasia [MESH:D004476] (938) 
 Cardiofaciocutaneous syndrome [MESH:C535579] (407)
 Cranioectodermal Dysplasia [MESH:C562966] (16)
 Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant [MESH:C567411] (533)
 Holoprosencephaly [MESH:D016142] (218) 
 Holoprosencephaly 4 [MESH:C564180] (70)
 Loeys-Dietz Syndrome [MESH:D055947] (263) 
 Loeys-Dietz Syndrome, Type 2A [MESH:C567156] (78)
 Smith-Magenis Syndrome [MESH:D058496] (19) 
 Potocki-Lupski syndrome [MESH:C538355] (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)
 VACTERL hydrocephaly [MESH:C536521] (151)
 TARP syndrome [MESH:C536942] (18)
 Kleefstra Syndrome [MESH:C563043] (25)
 Alagille Syndrome [MESH:D016738] (105)
 LEOPARD Syndrome [MESH:D044542] (299)
 Long QT Syndrome [MESH:D008133] (693)
 Tetralogy of Fallot [MESH:D013771] (121)
 22q11 Deletion Syndrome [MESH:D058165] (237) 
 DiGeorge Syndrome [MESH:D004062] (236)
 Arrhythmogenic Right Ventricular Dysplasia [MESH:D019571] (241) 
 Naxos disease [MESH:C538346] (51)
 Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 [MESH:C566471] (47)
 Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 [MESH:C566925] (51)
 Heart Septal Defects [MESH:D006343] (385) 
 Aortopulmonary Septal Defect [MESH:D001028] (47) 
 Truncus Arteriosus, Persistent [MESH:D014339] (45)
 Heart Septal Defects, Atrial [MESH:D006344] (209) 
 Rapadilino syndrome [MESH:C535288] (30)
 Noonan Syndrome [MESH:D009634] (506) 
 Noonan syndrome 3 [MESH:C537847] (118)
 Vascular Malformations [MESH:D054079] (1108) 
 Arteriovenous Malformations [MESH:D001165] (1058) 
 Capillary Malformation-Arteriovenous Malformation [MESH:C564254] (50)
 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) 
 Mosaic variegated aneuploidy syndrome [MESH:C536987] (95)
 Angelman Syndrome [MESH:D017204] (124)
 Beckwith-Wiedemann Syndrome [MESH:D001506] (193)
 Cri-du-Chat Syndrome [MESH:D003410] (139)
 Silver-Russell Syndrome [MESH:D056730] (142)
 Williams Syndrome [MESH:D018980] (133)
 Wolf-Hirschhorn Syndrome [MESH:D054877] (72)
 22q11 Deletion Syndrome [MESH:D058165] (237) 
 DiGeorge Syndrome [MESH:D004062] (236)
 Holoprosencephaly [MESH:D016142] (218) 
 Holoprosencephaly 4 [MESH:C564180] (70)
 Sex Chromosome Disorders [MESH:D025064] (479) 
 Fragile X Syndrome [MESH:D005600] (353)
 Smith-Magenis Syndrome [MESH:D058496] (19) 
 Potocki-Lupski syndrome [MESH:C538355] (17)
 Digestive System Abnormalities [MESH:D004065] (507) 
 Hirschsprung Disease [MESH:D006627] (361)
 Anus, Imperforate [MESH:D001006] (140) 
 Oculootoradial syndrome [MESH:C535544] (14)
 Eye Abnormalities [MESH:D005124] (1233) 
 Peters anomaly [MESH:C537884] (465)
 Popliteal Pterygium Syndrome [MESH:C562509] (33)
 Lymphatic Abnormalities [MESH:D044148] (251) 
 22q11 Deletion Syndrome [MESH:D058165] (237) 
 DiGeorge Syndrome [MESH:D004062] (236)
 Musculoskeletal Abnormalities [MESH:D009139] (3779) 
 Campomelic Dysplasia [MESH:D055036] (75)
 Arthrogryposis [MESH:D001176] (329) 
 Lethal congenital contracture syndrome 1 [MESH:C537194] (14)
 Bruck syndrome 2 [MESH:C537407] (64)
 Lethal Congenital Contracture Syndrome 2 [MESH:C564369] (85)
 Lethal Arthrogryposis With Anterior Horn Cell Disease [MESH:C567502] (14)
 Craniofacial Abnormalities [MESH:D019465] (3064) 
 Roberts Syndrome [MESH:C535687] (32)
 Desbuquois syndrome [MESH:C535943] (20)
 Kleefstra Syndrome [MESH:C563043] (25)
 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)
 LIG4 Syndrome [MESH:C564694] (24)
 LEOPARD Syndrome [MESH:D044542] (299)
 22q11 Deletion Syndrome [MESH:D058165] (237) 
 DiGeorge Syndrome [MESH:D004062] (236)
 Cleidocranial Dysplasia [MESH:D002973] (129) 
 Parietal Foramina With Cleidocranial Dysplasia [MESH:C566825] (36)
 Craniofacial Dysostosis [MESH:D003394] (391) 
 Hypertelorism [MESH:D006972] (109) 
 Roberts Syndrome [MESH:C535687] (32)
 Craniosynostoses [MESH:D003398] (438) 
 Craniosynostosis radial aplasia syndrome [MESH:C536788] (30)
 Jackson-Weiss syndrome [MESH:C537559] (149)
 Cranioectodermal Dysplasia [MESH:C562966] (16)
 Craniosynostosis, Type 2 [MESH:C565753] (36)
 Acrocephalosyndactylia [MESH:D000168] (201) 
 Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149)
 Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42)
 Holoprosencephaly [MESH:D016142] (218) 
 Holoprosencephaly 4 [MESH:C564180] (70)
 Macrocephaly [MESH:D058627] (264) 
 Macrocephaly Autism Syndrome [MESH:C565342] (151)
 Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy [MESH:C567020] (21)
 Maxillofacial Abnormalities [MESH:D019767] (1448) 
 Jaw Abnormalities [MESH:D007569] (1435) 
 Cleft Palate [MESH:D002972] (1330) 
 Van der Woude syndrome [MESH:C536528] (33)
 Popliteal Pterygium Syndrome [MESH:C562509] (33)
 Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65)
 Micrognathism [MESH:D008844] (230) 
 Meier-Gorlin syndrome [MESH:C538012] (133)
 Pierre Robin Syndrome [MESH:D010855] (101) 
 TARP syndrome [MESH:C536942] (18)
 Microcephaly [MESH:D008831] (700) 
 Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)
 Seckel syndrome 1 [MESH:C537533] (63)
 Seckel syndrome 2 [MESH:C537534] (7)
 Microcephalic Osteodysplastic Primordial Dwarfism, Type II [MESH:C565898] (7)
 Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83)
 Noonan Syndrome [MESH:D009634] (506) 
 Noonan syndrome 3 [MESH:C537847] (118)
 Plagiocephaly [MESH:D059041] (440) 
 Craniosynostoses [MESH:D003398] (438) 
 Craniosynostosis radial aplasia syndrome [MESH:C536788] (30)
 Jackson-Weiss syndrome [MESH:C537559] (149)
 Cranioectodermal Dysplasia [MESH:C562966] (16)
 Craniosynostosis, Type 2 [MESH:C565753] (36)
 Acrocephalosyndactylia [MESH:D000168] (201) 
 Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149)
 Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42)
 Limb Deformities, Congenital [MESH:D017880] (1813) 
 Rapadilino syndrome [MESH:C535288] (30)
 Acromicric dysplasia [MESH:C535662] (520)
 VACTERL hydrocephaly [MESH:C536521] (151)
 Proteus Syndrome [MESH:D016715] (152)
 Ectromelia [MESH:D004480] (108) 
 Roberts Syndrome [MESH:C535687] (32)
 Foot Deformities, Congenital [MESH:D005532] (538) 
 Jackson-Weiss syndrome [MESH:C537559] (149)
 Clubfoot [MESH:D003025] (79) 
 TARP syndrome [MESH:C536942] (18)
 Hand Deformities, Congenital [MESH:D006228] (587) 
 Oculootoradial syndrome [MESH:C535544] (14)
 Keutel syndrome [MESH:C536167] (102)
 Lower Extremity Deformities, Congenital [MESH:D038061] (81) 
 Popliteal Pterygium Syndrome [MESH:C562509] (33)
 Polydactyly [MESH:D017689] (318) 
 Desbuquois syndrome [MESH:C535943] (20)
 Hydrolethalus Syndrome 1 [MESH:C565504] (14)
 Syndactyly [MESH:D013576] (487) 
 Popliteal Pterygium Syndrome [MESH:C562509] (33)
 Acrocephalosyndactylia [MESH:D000168] (201) 
 Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149)
 Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42)
 Synostosis [MESH:D013580] (817) 
 Craniosynostoses [MESH:D003398] (438) 
 Craniosynostosis radial aplasia syndrome [MESH:C536788] (30)
 Jackson-Weiss syndrome [MESH:C537559] (149)
 Cranioectodermal Dysplasia [MESH:C562966] (16)
 Craniosynostosis, Type 2 [MESH:C565753] (36)
 Acrocephalosyndactylia [MESH:D000168] (201) 
 Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149)
 Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42)
 Syndactyly [MESH:D013576] (487) 
 Popliteal Pterygium Syndrome [MESH:C562509] (33)
 Acrocephalosyndactylia [MESH:D000168] (201) 
 Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149)
 Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42)
 Nervous System Malformations [MESH:D009421] (3354) 
 Aicardi-Goutieres Syndrome 4 [MESH:C563681] (39)
 Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172)
 Agenesis of Corpus Callosum [MESH:D061085] (345) 
 Chudley-Mccullough syndrome [MESH:C535459] (45)
 Proud Syndrome [MESH:C563110] (12)
 Corpus Callosum, Partial Agenesis of, X-Linked [MESH:C564115] (37)
 Holoprosencephaly [MESH:D016142] (218) 
 Holoprosencephaly 4 [MESH:C564180] (70)
 Central Nervous System Cysts [MESH:D020863] (57) 
 Arachnoid Cysts [MESH:D016080] (50) 
 Chudley-Mccullough syndrome [MESH:C535459] (45)
 Central Nervous System Vascular Malformations [MESH:D020785] (1031) 
 Intracranial Arteriovenous Malformations [MESH:D002538] (1015)
 Dandy-Walker Syndrome [MESH:D003616] (50) 
 Renal hepatic pancreatic dysplasia Dandy Walker cyst [MESH:C537756] (11)
 Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899) 
 Charcot-Marie-Tooth Disease [MESH:D002607] (627) 
 Charcot-Marie-Tooth Disease, Demyelinating, Type 1e [MESH:C566136] (76)
 Charcot-Marie-Tooth Disease, Axonal, Type 2n [MESH:C567653] (33)
 Spastic Paraplegia, Hereditary [MESH:D015419] (449) 
 MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome [MESH:C536029] (37)
 Spastic paraplegia 20, autosomal recessive [MESH:C536858] (24)
 Hereditary spastic paralysis, infantile onset ascending [MESH:C537217] (29)
 Holoprosencephaly [MESH:D016142] (218) 
 Holoprosencephaly 4 [MESH:C564180] (70)
 Malformations of Cortical Development [MESH:D054220] (1406) 
 Tuberous Sclerosis [MESH:D014402] (635)
 Lissencephaly [MESH:D054082] (218) 
 Classical Lissencephalies and Subcortical Band Heterotopias [MESH:D054221] (114) 
 Lissencephaly, X-Linked, 2 [MESH:C564563] (12)
 Macrocephaly [MESH:D058627] (264) 
 Macrocephaly Autism Syndrome [MESH:C565342] (151)
 Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy [MESH:C567020] (21)
 Microcephaly [MESH:D008831] (700) 
 Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)
 Seckel syndrome 1 [MESH:C537533] (63)
 Seckel syndrome 2 [MESH:C537534] (7)
 Microcephalic Osteodysplastic Primordial Dwarfism, Type II [MESH:C565898] (7)
 Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83)
 Neuronal Migration Disorders [MESH:D054081] (264) 
 Classical Lissencephalies and Subcortical Band Heterotopias [MESH:D054221] (114) 
 Lissencephaly, X-Linked, 2 [MESH:C564563] (12)
 Periventricular Nodular Heterotopia [MESH:D054091] (51) 
 Heterotopia, Periventricular, Autosomal Recessive [MESH:C564292] (14)
 Neural Tube Defects [MESH:D009436] (2143) 
 Spinal Dysraphism [MESH:D016135] (1025)
 Anencephaly [MESH:D000757] (120) 
 Neural tube defect, folate-sensitive [MESH:C536409] (111)
 Encephalocele [MESH:D004677] (151) 
 Parietal Foramina With Cleidocranial Dysplasia [MESH:C566825] (36)
 Parietal Foramina [MESH:C566826] (42)
 Skin Abnormalities [MESH:D012868] (1723) 
 Acrodermatitis [MESH:D000169] (56) 
 Acrodermatitis enteropathica [MESH:C538178] (51)
 Dyskeratosis Congenita [MESH:D019871] (185) 
 Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)
 Ectodermal Dysplasia [MESH:D004476] (958) 
 Cardiofaciocutaneous syndrome [MESH:C535579] (407)
 Cranioectodermal Dysplasia [MESH:C562966] (16)
 Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant [MESH:C567411] (533)
 Ichthyosis [MESH:D007057] (481) 
 Keratosis Follicularis Spinulosa Decalvans, X-Linked [MESH:C536159] (78)
 Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78)
 Port-Wine Stain [MESH:D019339] (86) 
 Capillary Malformation-Arteriovenous Malformation [MESH:C564254] (50)
 Rothmund-Thomson Syndrome [MESH:D011038] (35) 
 Rapadilino syndrome [MESH:C535288] (30)
 Xeroderma Pigmentosum [MESH:D014983] (213) 
 Xeroderma Pigmentosum, Complementation Group E [MESH:C564732] (38)
 Stomatognathic System Abnormalities [MESH:D018640] (1705) 
 Maxillofacial Abnormalities [MESH:D019767] (1447) 
 Jaw Abnormalities [MESH:D007569] (1438) 
 Cleft Palate [MESH:D002972] (1330) 
 Van der Woude syndrome [MESH:C536528] (33)
 Popliteal Pterygium Syndrome [MESH:C562509] (33)
 Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65)
 Micrognathism [MESH:D008844] (230) 
 Meier-Gorlin syndrome [MESH:C538012] (133)
 Pierre Robin Syndrome [MESH:D010855] (101) 
 TARP syndrome [MESH:C536942] (18)
 Mouth Abnormalities [MESH:D009056] (1383) 
 Cleft Lip [MESH:D002971] (914) 
 Van der Woude syndrome [MESH:C536528] (33)
 Popliteal Pterygium Syndrome [MESH:C562509] (33)
 Cleft Palate [MESH:D002972] (1330) 
 Van der Woude syndrome [MESH:C536528] (33)
 Popliteal Pterygium Syndrome [MESH:C562509] (33)
 Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65)
 Urogenital Abnormalities [MESH:D014564] (2064) 
 Popliteal Pterygium Syndrome [MESH:C562509] (33)
 Proud Syndrome [MESH:C563110] (12)
 Lissencephaly, X-Linked, 2 [MESH:C564563] (12)
 Disorders of Sex Development [MESH:D012734] (1637) 
 46, XX Disorders of Sex Development [MESH:D058489] (644) 
 Hyperandrogenism [MESH:D017588] (98)
 46, XY Disorders of Sex Development [MESH:D058490] (1060) 
 Androgen-Insensitivity Syndrome [MESH:D013734] (567)
 Kallmann Syndrome [MESH:D017436] (147)
 Adrenogenital Syndrome [MESH:D047808] (715) 
 Hyperandrogenism [MESH:D017588] (98)
 Hypospadias [MESH:D007021] (798) 
 Hypospadias 1, X-Linked [MESH:C567482] (571)
 Nephritis, Hereditary [MESH:D009394] (62) 
 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)
 Fetal Diseases [MESH:D005315] (1205) 
 Fetal Growth Retardation [MESH:D005317] (986) 
 Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)
 Finnish lethal neonatal metabolic syndrome [MESH:C537934] (23)
 Microcephalic Osteodysplastic Primordial Dwarfism, Type II [MESH:C565898] (7)
 Genetic Diseases, Inborn [MESH:D030342] (9766) 
 Alagille Syndrome [MESH:D016738] (105)
 CADASIL [MESH:D046589] (45)
 Costello Syndrome [MESH:D056685] (407)
 Kallmann Syndrome [MESH:D017436] (147)
 Pelger-Huet Anomaly [MESH:D010381] (28)
 Polycystic Kidney, Autosomal Recessive [MESH:D017044] (462)
 Anemia, Hemolytic, Congenital [MESH:D000745] (2001) 
 Anemia, Dyserythropoietic, Congenital [MESH:D000742] (81)
 Anemia, Hemolytic, Congenital Nonspherocytic [MESH:D000746] (308)
 Anemia, Sickle Cell [MESH:D000755] (1722)
 Spherocytosis, Hereditary [MESH:D013103] (137)
 Elliptocytosis, Hereditary [MESH:D004612] (95) 
 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)
 Thalassemia [MESH:D013789] (501) 
 beta-Thalassemia [MESH:D017086] (458)
 Anemia, Hypoplastic, Congenital [MESH:D029502] (1665) 
 Fanconi Anemia [MESH:D005199] (1604) 
 Fanconi Anemia, Complementation Group I [MESH:C563802] (34)
 Fanconi Anemia, Complementation Group D1 [MESH:C563980] (68)
 Blood Coagulation Disorders, Inherited [MESH:D025861] (722) 
 Activated Protein C Resistance [MESH:D020016] (140)
 Cardiomyopathy, Hypertrophic, Familial [MESH:D024741] (339) 
 Cardiomyopathy, Familial Hypertrophic, 3 [MESH:C566170] (103)
 Chromosome Disorders [MESH:D025063] (2030) 
 Mosaic variegated aneuploidy syndrome [MESH:C536987] (95)
 Angelman Syndrome [MESH:D017204] (124)
 Beckwith-Wiedemann Syndrome [MESH:D001506] (193)
 Cri-du-Chat Syndrome [MESH:D003410] (139)
 Silver-Russell Syndrome [MESH:D056730] (142)
 Williams Syndrome [MESH:D018980] (133)
 Wolf-Hirschhorn Syndrome [MESH:D054877] (72)
 22q11 Deletion Syndrome [MESH:D058165] (237) 
 DiGeorge Syndrome [MESH:D004062] (236)
 Holoprosencephaly [MESH:D016142] (218) 
 Holoprosencephaly 4 [MESH:C564180] (70)
 Sex Chromosome Disorders [MESH:D025064] (479) 
 Fragile X Syndrome [MESH:D005600] (353)
 Smith-Magenis Syndrome [MESH:D058496] (19) 
 Potocki-Lupski syndrome [MESH:C538355] (17)
 Dwarfism [MESH:D004392] (783) 
 Rapadilino syndrome [MESH:C535288] (30)
 Desbuquois syndrome [MESH:C535943] (20)
 Diastrophic dysplasia [MESH:C536170] (34)
 Seckel syndrome 1 [MESH:C537533] (63)
 Seckel syndrome 2 [MESH:C537534] (7)
 Microcephalic Osteodysplastic Primordial Dwarfism, Type II [MESH:C565898] (7)
 Three M Syndrome 2 [MESH:C567862] (22)
 Silver-Russell Syndrome [MESH:D056730] (142)
 Achondroplasia [MESH:D000130] (196) 
 Achondrogenesis type 1B [MESH:C536016] (34)
 Eye Diseases, Hereditary [MESH:D015785] (1867) 
 Duane Retraction Syndrome [MESH:D004370] (43)
 Albinism [MESH:D000417] (359) 
 Piebaldism [MESH:D016116] (167) 
 Griscelli syndrome type 1 [MESH:C537301] (42)
 Corneal Dystrophies, Hereditary [MESH:D003317] (341) 
 Corneal dystrophy, gelatinous drop-like [MESH:C535480] (37)
 Doyne honeycomb retinal dystrophy [MESH:C535602] (44)
 Retinitis Pigmentosa [MESH:D012174] (442) 
 Leber Congenital Amaurosis 3 [MESH:C565814] (38)
 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract [MESH:C567203] (27)
 Genetic Diseases, X-Linked [MESH:D040181] (3028) 
 MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome [MESH:C536029] (37)
 Hydrocephalus, X-linked [MESH:C536078] (37)
 Keratosis Follicularis Spinulosa Decalvans, X-Linked [MESH:C536159] (78)
 Chondrodysplasia punctata 2, X-linked dominant [MESH:C538416] (61)
 Panhypopituitarism X-linked [MESH:C538613] (18)
 Spondyloepiphyseal Dysplasia Tarda, X-Linked [MESH:C562447] (13)
 Proud Syndrome [MESH:C563110] (12)
 Corpus Callosum, Partial Agenesis of, X-Linked [MESH:C564115] (37)
 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)
 Phosphoglycerate Kinase 1 Deficiency [MESH:C567067] (98)
 Myopathy, Reducing Body, X-Linked, Childhood-Onset [MESH:C567468] (64)
 Myopathy, Reducing Body, X-Linked, Early-Onset, Severe [MESH:C567469] (64)
 Hypospadias 1, X-Linked [MESH:C567482] (571)
 Mental Retardation, X-Linked, With Panhypopituitarism [MESH:C567485] (18)
 Androgen-Insensitivity Syndrome [MESH:D013734] (567)
 Fabry Disease [MESH:D000795] (56)
 Pelizaeus-Merzbacher Disease [MESH:D020371] (103)
 Bulbo-Spinal Atrophy, X-Linked [MESH:D055534] (566) 
 Bulbospinal neuronopathy, X-linked recessive [MESH:C537017] (565)
 Dyskeratosis Congenita [MESH:D019871] (185) 
 Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)
 Mental Retardation, X-Linked [MESH:D038901] (1867) 
 Partington X-linked mental retardation syndrome [MESH:C536300] (12)
 Mental Retardation, X-Linked 9 [MESH:C563137] (14)
 Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related [MESH:C563150] (12)
 Mental Retardation, X-Linked, Syndromic 14 [MESH:C567063] (30)
 Fragile X Syndrome [MESH:D005600] (353)
 Lesch-Nyhan Syndrome [MESH:D007926] (129)
 Mucopolysaccharidosis II [MESH:D016532] (26)
 Classical Lissencephalies and Subcortical Band Heterotopias [MESH:D054221] (114) 
 Lissencephaly, X-Linked, 2 [MESH:C564563] (12)
 Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149) 
 Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)
 Pyruvate Dehydrogenase E2 Deficiency [MESH:C565448] (44)
 Rett Syndrome [MESH:D015518] (143) 
 Epileptic Encephalopathy, Early Infantile, 2 [MESH:C564064] (11)
 Muscular Dystrophy, Emery-Dreifuss [MESH:D020389] (169) 
 Myopathy, X-Linked, With Postural Muscle Atrophy [MESH:C567480] (64)
 Scapuloperoneal Myopathy, X-Linked Dominant [MESH:C567481] (64)
 Hemoglobinopathies [MESH:D006453] (1863) 
 Anemia, Sickle Cell [MESH:D000755] (1722)
 Thalassemia [MESH:D013789] (511) 
 beta-Thalassemia [MESH:D017086] (458)
 Heredodegenerative Disorders, Nervous System [MESH:D020271] (3465) 
 Alexander Disease [MESH:D038261] (168)
 Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172)
 Huntington Disease [MESH:D006816] (540)
 Lesch-Nyhan Syndrome [MESH:D007926] (129)
 Tuberous Sclerosis [MESH:D014402] (635)
 Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899) 
 Charcot-Marie-Tooth Disease [MESH:D002607] (627) 
 Charcot-Marie-Tooth Disease, Demyelinating, Type 1e [MESH:C566136] (76)
 Charcot-Marie-Tooth Disease, Axonal, Type 2n [MESH:C567653] (33)
 Spastic Paraplegia, Hereditary [MESH:D015419] (449) 
 MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome [MESH:C536029] (37)
 Spastic paraplegia 20, autosomal recessive [MESH:C536858] (24)
 Hereditary spastic paralysis, infantile onset ascending [MESH:C537217] (29)
 Mental Retardation, X-Linked [MESH:D038901] (1848) 
 Partington X-linked mental retardation syndrome [MESH:C536300] (12)
 Mental Retardation, X-Linked 9 [MESH:C563137] (14)
 Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related [MESH:C563150] (12)
 Mental Retardation, X-Linked, Syndromic 14 [MESH:C567063] (30)
 Fragile X Syndrome [MESH:D005600] (353)
 Lesch-Nyhan Syndrome [MESH:D007926] (129)
 Mucopolysaccharidosis II [MESH:D016532] (26)
 Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149) 
 Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)
 Pyruvate Dehydrogenase E2 Deficiency [MESH:C565448] (44)
 Rett Syndrome [MESH:D015518] (143) 
 Epileptic Encephalopathy, Early Infantile, 2 [MESH:C564064] (11)
 Neurofibromatoses [MESH:D017253] (146) 
 Neurofibromatosis 1 [MESH:D009456] (117)
 Neuronal Ceroid-Lipofuscinoses [MESH:D009472] (1026) 
 Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)
 Ceroid lipofuscinosis, neuronal 8 [MESH:C537952] (28)
 Ceroid Lipofuscinosis, Neuronal, 6 [MESH:C566627] (20)
 Rett Syndrome [MESH:D015518] (143) 
 Epileptic Encephalopathy, Early Infantile, 2 [MESH:C564064] (11)
 Spinocerebellar Degenerations [MESH:D013132] (449) 
 Spinocerebellar Ataxia 29 [MESH:C537206] (90)
 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy [MESH:C537313] (22)
 Olivopontocerebellar Atrophies [MESH:D009849] (49) 
 Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31)
 Spinocerebellar Ataxias [MESH:D020754] (322) 
 Spastic ataxia Charlevoix-Saguenay type [MESH:C536787] (37)
 Spinocerebellar Ataxia 15 [MESH:C564685] (90)
 Loeys-Dietz Syndrome [MESH:D055947] (263) 
 Loeys-Dietz Syndrome, Type 2A [MESH:C567156] (78)
 Metabolism, Inborn Errors [MESH:D008661] (6032) 
 3-Hydroxyacyl-CoA Dehydrogenase Deficiency [MESH:C535310] (80)
 Finnish lethal neonatal metabolic syndrome [MESH:C537934] (23)
 Fumaric aciduria [MESH:C538191] (27)
 Coumarin Resistance [MESH:C563039] (397)
 Hypoproteinemia, Hypercatabolic [MESH:C565476] (99)
 Phosphoglycerate Kinase 1 Deficiency [MESH:C567067] (98)
 Amino Acid Metabolism, Inborn Errors [MESH:D000592] (2565) 
 Gamma aminobutyric acid transaminase deficiency [MESH:C535407] (61)
 Methylmalonic acidemia [MESH:C537358] (764)
 Methylmalonic aciduria cblB type [MESH:C537361] (19)
 Hyperprolinemia type 2 [MESH:C538385] (39)
 Hyperhomocysteinemia [MESH:D020138] (1724)
 Maple Syrup Urine Disease [MESH:D008375] (127)
 Tyrosinemias [MESH:D020176] (132)
 Albinism [MESH:D000417] (359) 
 Piebaldism [MESH:D016116] (167) 
 Griscelli syndrome type 1 [MESH:C537301] (42)
 Urea Cycle Disorders, Inborn [MESH:D056806] (315) 
 Osteopetrosis with renal tubular acidosis [MESH:C536058] (130)
 HHH syndrome [MESH:C538380] (29)
 Amyloidosis, Familial [MESH:D028226] (696) 
 Corneal dystrophy, gelatinous drop-like [MESH:C535480] (37)
 Cerebral hemorrhage with amyloidosis, hereditary, Dutch type [MESH:C537944] (333)
 Cerebral Amyloid Angiopathy, Familial [MESH:D028243] (377) 
 Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333)
 Brain Diseases, Metabolic, Inborn [MESH:D020739] (2634) 
 Leigh Disease [MESH:D007888] (206)
 Lesch-Nyhan Syndrome [MESH:D007926] (129)
 Maple Syrup Urine Disease [MESH:D008375] (127)
 Tyrosinemias [MESH:D020176] (132)
 Cerebral Amyloid Angiopathy, Familial [MESH:D028243] (377) 
 Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333)
 Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497) 
 Alexander Disease [MESH:D038261] (168)
 Pelizaeus-Merzbacher Disease [MESH:D020371] (103)
 Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636) 
 Fucosidosis [MESH:D005645] (34)
 Sialic Acid Storage Disease [MESH:D029461] (63)
 Mucolipidoses [MESH:D009081] (78) 
 Neuraminidase 1 deficiency [MESH:C537366] (31)
 Microvillus inclusion disease [MESH:C537470] (28)
 Sphingolipidoses [MESH:D013106] (582) 
 Fabry Disease [MESH:D000795] (56)
 Peroxisomal Disorders [MESH:D018901] (1472) 
 Zellweger Syndrome [MESH:D015211] (182)
 Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149) 
 Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)
 Pyruvate Dehydrogenase E2 Deficiency [MESH:C565448] (44)
 Urea Cycle Disorders, Inborn [MESH:D056806] (315) 
 Osteopetrosis with renal tubular acidosis [MESH:C536058] (130)
 HHH syndrome [MESH:C538380] (29)
 Carbohydrate Metabolism, Inborn Errors [MESH:D002239] (1100) 
 Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83)
 Fucosidosis [MESH:D005645] (34)
 Congenital Disorders of Glycosylation [MESH:D018981] (188) 
 Congenital disorder of glycosylation type 1C [MESH:C535741] (15)
 Congenital disorder of glycosylation type 1H [MESH:C535746] (19)
 Congenital disorder of glycosylation type 1J [MESH:C535748] (17)
 Glycogen Storage Disease [MESH:D006008] (530) 
 Glycogen Storage Disease IC [MESH:C562805] (53)
 Glycogen Storage Disease Type I [MESH:D005953] (140) 
 Glycogen Storage Disease IB [MESH:C562594] (53)
 Lactose Intolerance [MESH:D007787] (113) 
 Lactose Intolerance, Adult Type [MESH:C562601] (112)
 Mucolipidoses [MESH:D009081] (78) 
 Neuraminidase 1 deficiency [MESH:C537366] (31)
 Microvillus inclusion disease [MESH:C537470] (28)
 Mucopolysaccharidoses [MESH:D009083] (164) 
 Mucopolysaccharidosis II [MESH:D016532] (26)
 Mucopolysaccharidosis III [MESH:D009084] (43)
 Mucopolysaccharidosis IV [MESH:D009085] (46)
 Pyruvate Metabolism, Inborn Errors [MESH:D015323] (324) 
 Leigh Disease [MESH:D007888] (206)
 Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149) 
 Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)
 Pyruvate Dehydrogenase E2 Deficiency [MESH:C565448] (44)
 Hyperbilirubinemia, Hereditary [MESH:D006933] (476) 
 Hyperbilirubinemia, Transient Familial Neonatal [MESH:C562692] (254)
 Gilbert Disease [MESH:D005878] (259)
 Crigler-Najjar Syndrome [MESH:D003414] (255) 
 Crigler Najjar syndrome, type 2 [MESH:C536213] (254)
 Lipid Metabolism, Inborn Errors [MESH:D008052] (2071) 
 Hyperlipoproteinemia Type II [MESH:D006938] (707)
 Smith-Lemli-Opitz Syndrome [MESH:D019082] (100)
 Lipidoses [MESH:D008064] (1655) 
 Neuronal Ceroid-Lipofuscinoses [MESH:D009472] (1026) 
 Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)
 Ceroid lipofuscinosis, neuronal 8 [MESH:C537952] (28)
 Ceroid Lipofuscinosis, Neuronal, 6 [MESH:C566627] (20)
 Sphingolipidoses [MESH:D013106] (582) 
 Fabry Disease [MESH:D000795] (56)
 Lipodystrophy, Congenital Generalized [MESH:D052497] (168) 
 Lipodystrophy, Congenital Generalized, Type 3 [MESH:C567282] (145)
 Lysosomal Storage Diseases [MESH:D016464] (761) 
 Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636) 
 Fucosidosis [MESH:D005645] (34)
 Sialic Acid Storage Disease [MESH:D029461] (63)
 Mucolipidoses [MESH:D009081] (78) 
 Neuraminidase 1 deficiency [MESH:C537366] (31)
 Microvillus inclusion disease [MESH:C537470] (28)
 Sphingolipidoses [MESH:D013106] (582) 
 Fabry Disease [MESH:D000795] (56)
 Mucopolysaccharidoses [MESH:D009083] (164) 
 Mucopolysaccharidosis II [MESH:D016532] (26)
 Mucopolysaccharidosis III [MESH:D009084] (43)
 Mucopolysaccharidosis IV [MESH:D009085] (46)
 Metal Metabolism, Inborn Errors [MESH:D008664] (2017) 
 Hemochromatosis [MESH:D006432] (1694)
 Hypophosphatasia [MESH:D007014] (142) 
 Hypophosphatasia, Childhood [MESH:C562440] (137)
 Hypophosphatasia, Infantile [MESH:C562646] (137)
 Hypophosphatasia, Adult [MESH:C562647] (137)
 Hypophosphatemia, Familial [MESH:D007015] (276) 
 Familial Hypophosphatemic Rickets [MESH:D053098] (274) 
 Vitamin D Hydroxylation-Deficient Rickets, Type 1B [MESH:C564005] (25)
 Peroxisomal Disorders [MESH:D018901] (1788) 
 Zellweger Syndrome [MESH:D015211] (182)
 Purine-Pyrimidine Metabolism, Inborn Errors [MESH:D011686] (496) 
 Oroticaciduria 1 [MESH:C537136] (41)
 Purine Nucleoside Phosphorylase Deficiency [MESH:C562587] (63)
 Gout [MESH:D006073] (261)
 Lesch-Nyhan Syndrome [MESH:D007926] (129)
 Renal Tubular Transport, Inborn Errors [MESH:D015499] (1027) 
 Acidosis, Renal Tubular [MESH:D000141] (225) 
 Osteopetrosis with renal tubular acidosis [MESH:C536058] (130)
 Hypophosphatemia, Familial [MESH:D007015] (276) 
 Familial Hypophosphatemic Rickets [MESH:D053098] (274) 
 Vitamin D Hydroxylation-Deficient Rickets, Type 1B [MESH:C564005] (25)
 Renal Aminoacidurias [MESH:D000608] (95) 
 Finnish lethal neonatal metabolic syndrome [MESH:C537934] (23)
 Steroid Metabolism, Inborn Errors [MESH:D043202] (962) 
 Smith-Lemli-Opitz Syndrome [MESH:D019082] (100)
 Muscular Dystrophies [MESH:D009136] (1597) 
 Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854)
 Muscular Dystrophies, Limb-Girdle [MESH:D049288] (259) 
 Sarcoglycanopathies [MESH:D058088] (49) 
 Limb-girdle muscular dystrophy, type 2C [MESH:C535900] (20)
 Muscular Dystrophy, Emery-Dreifuss [MESH:D020389] (169) 
 Myopathy, X-Linked, With Postural Muscle Atrophy [MESH:C567480] (64)
 Scapuloperoneal Myopathy, X-Linked Dominant [MESH:C567481] (64)
 Neoplastic Syndromes, Hereditary [MESH:D009386] (2578) 
 Turcot syndrome [MESH:C536928] (159)
 Meningioma, familial [MESH:C537443] (195)
 Juvenile polyposis syndrome [MESH:C537702] (196)
 Birt-Hogg-Dube Syndrome [MESH:D058249] (35)
 Exostoses, Multiple Hereditary [MESH:D005097] (154)
 Hamartoma Syndrome, Multiple [MESH:D006223] (260)
 Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)
 Li-Fraumeni Syndrome [MESH:D016864] (859)
 Tuberous Sclerosis [MESH:D014402] (635)
 Wilms Tumor [MESH:D009396] (553)
 Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (260) 
 Lynch syndrome I (site-specific colonic cancer) [MESH:C537261] (130)
 Lynch Syndrome II [MESH:D055847] (103) 
 Muir-Torre Syndrome [MESH:D055653] (102)
 Multiple Endocrine Neoplasia [MESH:D009377] (375) 
 Multiple Endocrine Neoplasia Type 2b [MESH:D018814] (75)
 Multiple Endocrine Neoplasia Type 2a [MESH:D018813] (102) 
 Familial medullary thyroid carcinoma [MESH:C536911] (101)
 Neurofibromatoses [MESH:D017253] (146) 
 Neurofibromatosis 1 [MESH:D009456] (117)
 Osteogenesis Imperfecta [MESH:D010013] (481) 
 Bruck syndrome 2 [MESH:C537407] (64)
 Osteogenesis Imperfecta, Type IX [MESH:C564921] (46)
 Skin Diseases, Genetic [MESH:D012873] (3456) 
 Keratosis Follicularis Spinulosa Decalvans, X-Linked [MESH:C536159] (78)
 Dermatitis, Atopic [MESH:D003876] (2052)
 Pemphigus, Benign Familial [MESH:D016506] (22)
 Albinism [MESH:D000417] (359) 
 Piebaldism [MESH:D016116] (167) 
 Griscelli syndrome type 1 [MESH:C537301] (42)
 Dyskeratosis Congenita [MESH:D019871] (185) 
 Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)
 Ectodermal Dysplasia [MESH:D004476] (958) 
 Cardiofaciocutaneous syndrome [MESH:C535579] (407)
 Cranioectodermal Dysplasia [MESH:C562966] (16)
 Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant [MESH:C567411] (533)
 Keratoderma, Palmoplantar [MESH:D007645] (287) 
 Naxos disease [MESH:C538346] (51)
 Papillon-Lefevre Disease [MESH:D010214] (76) 
 Keratosis palmoplantaris with periodontopathia and onychogryposis [MESH:C537627] (73)
 Rothmund-Thomson Syndrome [MESH:D011038] (35) 
 Rapadilino syndrome [MESH:C535288] (30)
 Xeroderma Pigmentosum [MESH:D014983] (213) 
 Xeroderma Pigmentosum, Complementation Group E [MESH:C564732] (38)
 Infant, Newborn, Diseases [MESH:D007232] (3064) 
 Erythroblastosis, Fetal [MESH:D004899] (257) 
 Kernicterus [MESH:D007647] (256)
 Hyperbilirubinemia, Neonatal [MESH:D051556] (469) 
 Hyperbilirubinemia, Transient Familial Neonatal [MESH:C562692] (254)
 Ichthyosis [MESH:D007057] (476) 
 Keratosis Follicularis Spinulosa Decalvans, X-Linked [MESH:C536159] (78)
 Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78)
 Rothmund-Thomson Syndrome [MESH:D011038] (35) 
 Rapadilino syndrome [MESH:C535288] (30)
C17. Skin and Connective Tissue Diseases 
C17. Skin and Connective Tissue Diseases
 Connective Tissue Diseases [MESH:D003240] (4490) 
 Dermatomyositis [MESH:D003882] (1826)
 Lupus Erythematosus, Systemic [MESH:D008180] (2317)
 Scleroderma, Localized [MESH:D012594] (1597)
 Cartilage Diseases [MESH:D002357] (438) 
 Keutel syndrome [MESH:C536167] (102)
 Collagen Diseases [MESH:D003095] (1267) 
 Keloid [MESH:D007627] (1111)
 Nephritis, Hereditary [MESH:D009394] (62) 
 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)
 Osteogenesis Imperfecta [MESH:D010013] (481) 
 Bruck syndrome 2 [MESH:C537407] (64)
 Osteogenesis Imperfecta, Type IX [MESH:C564921] (46)
 Mucinoses [MESH:D017520] (177) 
 Mucopolysaccharidoses [MESH:D009083] (164) 
 Mucopolysaccharidosis II [MESH:D016532] (26)
 Mucopolysaccharidosis III [MESH:D009084] (43)
 Mucopolysaccharidosis IV [MESH:D009085] (46)
 Noonan Syndrome [MESH:D009634] (506) 
 Noonan syndrome 3 [MESH:C537847] (118)
 Rheumatic Diseases [MESH:D012216] (3619) 
 Arthritis, Juvenile [MESH:D001171] (1060)
 Arthritis, Rheumatoid [MESH:D001172] (3603)
 Skin Diseases [MESH:D012871] (8774) 
 Dermatomyositis [MESH:D003882] (1826)
 Lipomatosis [MESH:D008068] (182)
 Pruritus [MESH:D011537] (647)
 Scleroderma, Localized [MESH:D012594] (1597)
 Acneiform Eruptions [MESH:D017486] (1312) 
 Chloracne [MESH:D054506] (1274)
 Breast Diseases [MESH:D001941] (6148) 
 Gynecomastia [MESH:D006177] (484)
 Breast Neoplasms [MESH:D001943] (6077) 
 Breast Neoplasms, Male [MESH:D018567] (650)
 Carcinoma, Ductal, Breast [MESH:D018270] (1112)
 Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)
 Lactation Disorders [MESH:D007775] (235) 
 Galactorrhea [MESH:D005687] (233)
 Dermatitis [MESH:D003872] (4530) 
 Seborrhea-Like Dermatitis with Psoriasiform Elements [MESH:C565217] (6)
 Dermatitis, Atopic [MESH:D003876] (2052)
 Acrodermatitis [MESH:D000169] (56) 
 Acrodermatitis enteropathica [MESH:C538178] (51)
 Dermatitis, Contact [MESH:D003877] (3394) 
 Dermatitis, Allergic Contact [MESH:D017449] (3241)
 Facial Dermatoses [MESH:D005148] (1336) 
 Acneiform Eruptions [MESH:D017486] (1312) 
 Chloracne [MESH:D054506] (1274)
 Hair Diseases [MESH:D006201] (1891) 
 Bjornstad syndrome [MESH:C537633] (23)
 Naxos disease [MESH:C538346] (51)
 Hypotrichosis [MESH:D007039] (1513) 
 Hypotrichosis simplex [MESH:C537160] (92)
 Alopecia [MESH:D000505] (1453) 
 Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78)
 Alopecia Areata [MESH:D000506] (168)
 Keratoacanthoma [MESH:D007636] (83) 
 Keratoacanthoma familial [MESH:C536150] (78)
 Keratosis [MESH:D007642] (1941) 
 Ichthyosis [MESH:D007057] (481) 
 Keratosis Follicularis Spinulosa Decalvans, X-Linked [MESH:C536159] (78)
 Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78)
 Keratoderma, Palmoplantar [MESH:D007645] (287) 
 Naxos disease [MESH:C538346] (51)
 Papillon-Lefevre Disease [MESH:D010214] (76) 
 Keratosis palmoplantaris with periodontopathia and onychogryposis [MESH:C537627] (73)
 Photosensitivity Disorders [MESH:D010787] (272) 
 Xeroderma Pigmentosum [MESH:D014983] (213) 
 Xeroderma Pigmentosum, Complementation Group E [MESH:C564732] (38)
 Pigmentation Disorders [MESH:D010859] (1215) 
 Griscelli syndrome type 1 [MESH:C537301] (42)
 Cafe-au-Lait Spots [MESH:D019080] (186) 
 Cafe au lait spots, multiple [MESH:C537421] (102)
 Hyperpigmentation [MESH:D017495] (523) 
 Melanosis [MESH:D008548] (459) 
 Lentigo [MESH:D007911] (329) 
 LEOPARD Syndrome [MESH:D044542] (299)
 Hypopigmentation [MESH:D017496] (718) 
 Vitiligo [MESH:D014820] (504)
 Albinism [MESH:D000417] (359) 
 Piebaldism [MESH:D016116] (167) 
 Griscelli syndrome type 1 [MESH:C537301] (42)
 Xeroderma Pigmentosum [MESH:D014983] (213) 
 Xeroderma Pigmentosum, Complementation Group E [MESH:C564732] (38)
 Sebaceous Gland Diseases [MESH:D012625] (245) 
 Sebaceous Gland Neoplasms [MESH:D012626] (154) 
 Muir-Torre Syndrome [MESH:D055653] (102)
 Skin Abnormalities [MESH:D012868] (1709) 
 Acrodermatitis [MESH:D000169] (56) 
 Acrodermatitis enteropathica [MESH:C538178] (51)
 Dyskeratosis Congenita [MESH:D019871] (185) 
 Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)
 Ectodermal Dysplasia [MESH:D004476] (958) 
 Cardiofaciocutaneous syndrome [MESH:C535579] (407)
 Cranioectodermal Dysplasia [MESH:C562966] (16)
 Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant [MESH:C567411] (533)
 Ichthyosis [MESH:D007057] (481) 
 Keratosis Follicularis Spinulosa Decalvans, X-Linked [MESH:C536159] (78)
 Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78)
 Port-Wine Stain [MESH:D019339] (86) 
 Capillary Malformation-Arteriovenous Malformation [MESH:C564254] (50)
 Rothmund-Thomson Syndrome [MESH:D011038] (35) 
 Rapadilino syndrome [MESH:C535288] (30)
 Xeroderma Pigmentosum [MESH:D014983] (213) 
 Xeroderma Pigmentosum, Complementation Group E [MESH:C564732] (38)
 Skin Diseases, Eczematous [MESH:D017443] (3740) 
 Dermatitis, Atopic [MESH:D003876] (2052)
 Dermatitis, Contact [MESH:D003877] (3394) 
 Dermatitis, Allergic Contact [MESH:D017449] (3241)
 Skin Diseases, Genetic [MESH:D012873] (3481) 
 Keratosis Follicularis Spinulosa Decalvans, X-Linked [MESH:C536159] (78)
 Dermatitis, Atopic [MESH:D003876] (2052)
 Muir-Torre Syndrome [MESH:D055653] (102)
 Pemphigus, Benign Familial [MESH:D016506] (22)
 Albinism [MESH:D000417] (359) 
 Piebaldism [MESH:D016116] (167) 
 Griscelli syndrome type 1 [MESH:C537301] (42)
 Dyskeratosis Congenita [MESH:D019871] (185) 
 Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)
 Ectodermal Dysplasia [MESH:D004476] (958) 
 Cardiofaciocutaneous syndrome [MESH:C535579] (407)
 Cranioectodermal Dysplasia [MESH:C562966] (16)
 Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant [MESH:C567411] (533)
 Keratoderma, Palmoplantar [MESH:D007645] (287) 
 Naxos disease [MESH:C538346] (51)
 Papillon-Lefevre Disease [MESH:D010214] (76) 
 Keratosis palmoplantaris with periodontopathia and onychogryposis [MESH:C537627] (73)
 Rothmund-Thomson Syndrome [MESH:D011038] (35) 
 Rapadilino syndrome [MESH:C535288] (30)
 Xeroderma Pigmentosum [MESH:D014983] (213) 
 Xeroderma Pigmentosum, Complementation Group E [MESH:C564732] (38)
 Skin Diseases, Infectious [MESH:D012874] (2684) 
 Skin Diseases, Parasitic [MESH:D012876] (2526) 
 Leishmaniasis [MESH:D007896] (2516) 
 Leishmaniasis, Cutaneous [MESH:D016773] (2359)
 Skin Diseases, Metabolic [MESH:D012875] (1574) 
 Lipodystrophy [MESH:D008060] (930) 
 Lipodystrophy, Partial, Acquired [MESH:C562448] (26)
 Lipodystrophy, Familial Partial [MESH:D052496] (589)
 Lipodystrophy, Congenital Generalized [MESH:D052497] (168) 
 Lipodystrophy, Congenital Generalized, Type 3 [MESH:C567282] (145)
 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) 
 Urticaria [MESH:D014581] (2668)
 Skin Diseases, Vesiculobullous [MESH:D012872] (1754) 
 Pemphigus, Benign Familial [MESH:D016506] (22)
 Skin Neoplasms [MESH:D012878] (2991) 
 Reed's syndrome [MESH:C535516] (27)
 Sebaceous Gland Neoplasms [MESH:D012626] (154) 
 Muir-Torre Syndrome [MESH:D055653] (102)
C18. Nutritional and Metabolic Diseases 
C18. Nutritional and Metabolic Diseases
 Metabolic Diseases [MESH:D008659] (9025) 
 Metabolic Syndrome X [MESH:D024821] (2151)
 Acid-Base Imbalance [MESH:D000137] (854) 
 Acidosis [MESH:D000138] (626) 
 Succinyl-CoA:3-oxoacid CoA transferase deficiency [MESH:C537527] (38)
 Acidosis, Lactic [MESH:D000140] (204) 
 Pyruvate dehydrogenase phosphatase deficiency [MESH:C536258] (40)
 Finnish lethal neonatal metabolic syndrome [MESH:C537934] (23)
 Pyruvate Dehydrogenase E2 Deficiency [MESH:C565448] (44)
 Acidosis, Renal Tubular [MESH:D000141] (225) 
 Osteopetrosis with renal tubular acidosis [MESH:C536058] (130)
 Brain Diseases, Metabolic [MESH:D001928] (3350) 
 Hepatic Encephalopathy [MESH:D006501] (1795)
 Kernicterus [MESH:D007647] (256)
 Mitochondrial Encephalomyopathies [MESH:D017237] (158)
 Brain Diseases, Metabolic, Inborn [MESH:D020739] (2634) 
 Leigh Disease [MESH:D007888] (206)
 Lesch-Nyhan Syndrome [MESH:D007926] (129)
 Maple Syrup Urine Disease [MESH:D008375] (127)
 Tyrosinemias [MESH:D020176] (132)
 Cerebral Amyloid Angiopathy, Familial [MESH:D028243] (377) 
 Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333)
 Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497) 
 Alexander Disease [MESH:D038261] (168)
 Pelizaeus-Merzbacher Disease [MESH:D020371] (103)
 Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636) 
 Fucosidosis [MESH:D005645] (34)
 Sialic Acid Storage Disease [MESH:D029461] (63)
 Mucolipidoses [MESH:D009081] (78) 
 Neuraminidase 1 deficiency [MESH:C537366] (31)
 Microvillus inclusion disease [MESH:C537470] (28)
 Sphingolipidoses [MESH:D013106] (582) 
 Fabry Disease [MESH:D000795] (56)
 Peroxisomal Disorders [MESH:D018901] (1472) 
 Zellweger Syndrome [MESH:D015211] (182)
 Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149) 
 Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)
 Pyruvate Dehydrogenase E2 Deficiency [MESH:C565448] (44)
 Urea Cycle Disorders, Inborn [MESH:D056806] (315) 
 Osteopetrosis with renal tubular acidosis [MESH:C536058] (130)
 HHH syndrome [MESH:C538380] (29)
 Calcium Metabolism Disorders [MESH:D002128] (3634) 
 Calcinosis [MESH:D002114] (2989) 
 Keutel syndrome [MESH:C536167] (102)
 Calcification of Joints and Arteries [MESH:C565891] (60)
 Vascular Calcification [MESH:D061205] (138)
 Hypercalcemia [MESH:D006934] (1999) 
 Familial benign hypercalcemia, type 3 [MESH:C537147] (18)
 Rickets [MESH:D012279] (341) 
 Rickets, Hypophosphatemic [MESH:D063730] (276) 
 Familial Hypophosphatemic Rickets [MESH:D053098] (274) 
 Vitamin D Hydroxylation-Deficient Rickets, Type 1B [MESH:C564005] (25)
 DNA Repair-Deficiency Disorders [MESH:D049914] (2245) 
 Bloom Syndrome [MESH:D001816] (107)
 Li-Fraumeni Syndrome [MESH:D016864] (859)
 Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258) 
 Lynch syndrome I (site-specific colonic cancer) [MESH:C537261] (130)
 Fanconi Anemia [MESH:D005199] (1604) 
 Fanconi Anemia, Complementation Group I [MESH:C563802] (34)
 Fanconi Anemia, Complementation Group D1 [MESH:C563980] (68)
 Rothmund-Thomson Syndrome [MESH:D011038] (35) 
 Rapadilino syndrome [MESH:C535288] (30)
 Xeroderma Pigmentosum [MESH:D014983] (213) 
 Xeroderma Pigmentosum, Complementation Group E [MESH:C564732] (38)
 Glucose Metabolism Disorders [MESH:D044882] (6122) 
 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)
 Hyperglycemia [MESH:D006943] (1858) 
 Glucose Intolerance [MESH:D018149] (605)
 Hyperinsulinism [MESH:D006946] (3586) 
 Hyperinsulinemic Hypoglycemia, Familial, 4 [MESH:C566493] (80)
 Insulin Resistance [MESH:D007333] (3511) 
 Metabolic Syndrome X [MESH:D024821] (2151)
 Hypoglycemia [MESH:D007003] (2420) 
 Hyperinsulinemic Hypoglycemia, Familial, 4 [MESH:C566493] (80)
 Iron Metabolism Disorders [MESH:D019189] (2139) 
 Anemia, Iron-Deficiency [MESH:D018798] (547)
 Iron Overload [MESH:D019190] (1772) 
 Hemochromatosis [MESH:D006432] (1694)
 Hemosiderosis [MESH:D006486] (38) 
 Finnish lethal neonatal metabolic syndrome [MESH:C537934] (23)
 Lipid Metabolism Disorders [MESH:D052439] (3225) 
 Lipomatosis [MESH:D008068] (182)
 Dyslipidemias [MESH:D050171] (2428) 
 Smith-Lemli-Opitz Syndrome [MESH:D019082] (100)
 Hyperlipidemias [MESH:D006949] (1908) 
 Hypercholesterolemia [MESH:D006937] (1404)
 Hyperlipoproteinemias [MESH:D006951] (903) 
 Hyperlipoproteinemia Type II [MESH:D006938] (707)
 Lipodystrophy [MESH:D008060] (930) 
 Lipodystrophy, Partial, Acquired [MESH:C562448] (26)
 Lipodystrophy, Familial Partial [MESH:D052496] (589)
 Lipodystrophy, Congenital Generalized [MESH:D052497] (168) 
 Lipodystrophy, Congenital Generalized, Type 3 [MESH:C567282] (145)
 Lipidoses [MESH:D008064] (1655) 
 Neuronal Ceroid-Lipofuscinoses [MESH:D009472] (1026) 
 Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)
 Ceroid lipofuscinosis, neuronal 8 [MESH:C537952] (28)
 Ceroid Lipofuscinosis, Neuronal, 6 [MESH:C566627] (20)
 Sphingolipidoses [MESH:D013106] (582) 
 Fabry Disease [MESH:D000795] (56)
 Malabsorption Syndromes [MESH:D008286] (1869) 
 Microvillus inclusion disease [MESH:C537470] (28)
 Celiac Disease [MESH:D002446] (340)
 Hyperhomocysteinemia [MESH:D020138] (1716)
 Lactose Intolerance [MESH:D007787] (113) 
 Lactose Intolerance, Adult Type [MESH:C562601] (112)
 Metabolism, Inborn Errors [MESH:D008661] (6028) 
 3-Hydroxyacyl-CoA Dehydrogenase Deficiency [MESH:C535310] (80)
 Finnish lethal neonatal metabolic syndrome [MESH:C537934] (23)
 Fumaric aciduria [MESH:C538191] (27)
 Coumarin Resistance [MESH:C563039] (397)
 Hypoproteinemia, Hypercatabolic [MESH:C565476] (99)
 Phosphoglycerate Kinase 1 Deficiency [MESH:C567067] (98)
 Amino Acid Metabolism, Inborn Errors [MESH:D000592] (2559) 
 Gamma aminobutyric acid transaminase deficiency [MESH:C535407] (61)
 Methylmalonic acidemia [MESH:C537358] (764)
 Methylmalonic aciduria cblB type [MESH:C537361] (19)
 Hyperprolinemia type 2 [MESH:C538385] (39)
 Hyperhomocysteinemia [MESH:D020138] (1724)
 Maple Syrup Urine Disease [MESH:D008375] (127)
 Tyrosinemias [MESH:D020176] (132)
 Albinism [MESH:D000417] (359) 
 Piebaldism [MESH:D016116] (167) 
 Griscelli syndrome type 1 [MESH:C537301] (42)
 Urea Cycle Disorders, Inborn [MESH:D056806] (315) 
 Osteopetrosis with renal tubular acidosis [MESH:C536058] (130)
 HHH syndrome [MESH:C538380] (29)
 Amyloidosis, Familial [MESH:D028226] (696) 
 Corneal dystrophy, gelatinous drop-like [MESH:C535480] (37)
 Cerebral hemorrhage with amyloidosis, hereditary, Dutch type [MESH:C537944] (333)
 Cerebral Amyloid Angiopathy, Familial [MESH:D028243] (377) 
 Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333)
 Brain Diseases, Metabolic, Inborn [MESH:D020739] (2634) 
 Leigh Disease [MESH:D007888] (206)
 Lesch-Nyhan Syndrome [MESH:D007926] (129)
 Maple Syrup Urine Disease [MESH:D008375] (127)
 Tyrosinemias [MESH:D020176] (132)
 Cerebral Amyloid Angiopathy, Familial [MESH:D028243] (377) 
 Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333)
 Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497) 
 Alexander Disease [MESH:D038261] (168)
 Pelizaeus-Merzbacher Disease [MESH:D020371] (103)
 Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636) 
 Fucosidosis [MESH:D005645] (34)
 Sialic Acid Storage Disease [MESH:D029461] (63)
 Mucolipidoses [MESH:D009081] (78) 
 Neuraminidase 1 deficiency [MESH:C537366] (31)
 Microvillus inclusion disease [MESH:C537470] (28)
 Sphingolipidoses [MESH:D013106] (582) 
 Fabry Disease [MESH:D000795] (56)
 Peroxisomal Disorders [MESH:D018901] (1472) 
 Zellweger Syndrome [MESH:D015211] (182)
 Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149) 
 Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)
 Pyruvate Dehydrogenase E2 Deficiency [MESH:C565448] (44)
 Urea Cycle Disorders, Inborn [MESH:D056806] (315) 
 Osteopetrosis with renal tubular acidosis [MESH:C536058] (130)
 HHH syndrome [MESH:C538380] (29)
 Carbohydrate Metabolism, Inborn Errors [MESH:D002239] (1100) 
 Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83)
 Fucosidosis [MESH:D005645] (34)
 Congenital Disorders of Glycosylation [MESH:D018981] (188) 
 Congenital disorder of glycosylation type 1C [MESH:C535741] (15)
 Congenital disorder of glycosylation type 1H [MESH:C535746] (19)
 Congenital disorder of glycosylation type 1J [MESH:C535748] (17)
 Glycogen Storage Disease [MESH:D006008] (530) 
 Glycogen Storage Disease IC [MESH:C562805] (53)
 Glycogen Storage Disease Type I [MESH:D005953] (140) 
 Glycogen Storage Disease IB [MESH:C562594] (53)
 Lactose Intolerance [MESH:D007787] (113) 
 Lactose Intolerance, Adult Type [MESH:C562601] (112)
 Mucolipidoses [MESH:D009081] (78) 
 Neuraminidase 1 deficiency [MESH:C537366] (31)
 Microvillus inclusion disease [MESH:C537470] (28)
 Mucopolysaccharidoses [MESH:D009083] (164) 
 Mucopolysaccharidosis II [MESH:D016532] (26)
 Mucopolysaccharidosis III [MESH:D009084] (43)
 Mucopolysaccharidosis IV [MESH:D009085] (46)
 Pyruvate Metabolism, Inborn Errors [MESH:D015323] (324) 
 Leigh Disease [MESH:D007888] (206)
 Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149) 
 Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)
 Pyruvate Dehydrogenase E2 Deficiency [MESH:C565448] (44)
 Hyperbilirubinemia, Hereditary [MESH:D006933] (476) 
 Hyperbilirubinemia, Transient Familial Neonatal [MESH:C562692] (254)
 Gilbert Disease [MESH:D005878] (259)
 Crigler-Najjar Syndrome [MESH:D003414] (255) 
 Crigler Najjar syndrome, type 2 [MESH:C536213] (254)
 Lipid Metabolism, Inborn Errors [MESH:D008052] (2071) 
 Hyperlipoproteinemia Type II [MESH:D006938] (707)
 Smith-Lemli-Opitz Syndrome [MESH:D019082] (100)
 Lipidoses [MESH:D008064] (1655) 
 Neuronal Ceroid-Lipofuscinoses [MESH:D009472] (1026) 
 Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)
 Ceroid lipofuscinosis, neuronal 8 [MESH:C537952] (28)
 Ceroid Lipofuscinosis, Neuronal, 6 [MESH:C566627] (20)
 Sphingolipidoses [MESH:D013106] (582) 
 Fabry Disease [MESH:D000795] (56)
 Lipodystrophy, Congenital Generalized [MESH:D052497] (168) 
 Lipodystrophy, Congenital Generalized, Type 3 [MESH:C567282] (145)
 Lysosomal Storage Diseases [MESH:D016464] (761) 
 Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636) 
 Fucosidosis [MESH:D005645] (34)
 Sialic Acid Storage Disease [MESH:D029461] (63)
 Mucolipidoses [MESH:D009081] (78) 
 Neuraminidase 1 deficiency [MESH:C537366] (31)
 Microvillus inclusion disease [MESH:C537470] (28)
 Sphingolipidoses [MESH:D013106] (582) 
 Fabry Disease [MESH:D000795] (56)
 Mucopolysaccharidoses [MESH:D009083] (164) 
 Mucopolysaccharidosis II [MESH:D016532] (26)
 Mucopolysaccharidosis III [MESH:D009084] (43)
 Mucopolysaccharidosis IV [MESH:D009085] (46)
 Metal Metabolism, Inborn Errors [MESH:D008664] (2017) 
 Hemochromatosis [MESH:D006432] (1694)
 Hypophosphatasia [MESH:D007014] (142) 
 Hypophosphatasia, Childhood [MESH:C562440] (137)
 Hypophosphatasia, Infantile [MESH:C562646] (137)
 Hypophosphatasia, Adult [MESH:C562647] (137)
 Hypophosphatemia, Familial [MESH:D007015] (276) 
 Familial Hypophosphatemic Rickets [MESH:D053098] (274) 
 Vitamin D Hydroxylation-Deficient Rickets, Type 1B [MESH:C564005] (25)
 Peroxisomal Disorders [MESH:D018901] (1788) 
 Zellweger Syndrome [MESH:D015211] (182)
 Purine-Pyrimidine Metabolism, Inborn Errors [MESH:D011686] (496) 
 Oroticaciduria 1 [MESH:C537136] (41)
 Purine Nucleoside Phosphorylase Deficiency [MESH:C562587] (63)
 Gout [MESH:D006073] (261)
 Lesch-Nyhan Syndrome [MESH:D007926] (129)
 Renal Tubular Transport, Inborn Errors [MESH:D015499] (1026) 
 Acidosis, Renal Tubular [MESH:D000141] (225) 
 Osteopetrosis with renal tubular acidosis [MESH:C536058] (130)
 Hypophosphatemia, Familial [MESH:D007015] (276) 
 Familial Hypophosphatemic Rickets [MESH:D053098] (274) 
 Vitamin D Hydroxylation-Deficient Rickets, Type 1B [MESH:C564005] (25)
 Renal Aminoacidurias [MESH:D000608] (89) 
 Finnish lethal neonatal metabolic syndrome [MESH:C537934] (23)
 Steroid Metabolism, Inborn Errors [MESH:D043202] (962) 
 Smith-Lemli-Opitz Syndrome [MESH:D019082] (100)
 Mitochondrial Diseases [MESH:D028361] (2561) 
 Mitochondrial complex I deficiency [MESH:C537475] (140)
 Bjornstad syndrome [MESH:C537633] (23)
 Finnish lethal neonatal metabolic syndrome [MESH:C537934] (23)
 Mitochondrial Complex III Deficiency [MESH:C565128] (54)
 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation [MESH:C567009] (13)
 Leigh Disease [MESH:D007888] (206)
 Mitochondrial Myopathies [MESH:D017240] (2176) 
 Mitochondrial Encephalomyopathies [MESH:D017237] (1121)
 Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149) 
 Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)
 Pyruvate Dehydrogenase E2 Deficiency [MESH:C565448] (44)
 Phosphorus Metabolism Disorders [MESH:D010760] (711) 
 Hypophosphatemia [MESH:D017674] (640) 
 Hypophosphatemia, Familial [MESH:D007015] (276) 
 Familial Hypophosphatemic Rickets [MESH:D053098] (274) 
 Vitamin D Hydroxylation-Deficient Rickets, Type 1B [MESH:C564005] (25)
 Rickets, Hypophosphatemic [MESH:D063730] (276) 
 Familial Hypophosphatemic Rickets [MESH:D053098] (274) 
 Vitamin D Hydroxylation-Deficient Rickets, Type 1B [MESH:C564005] (25)
 Proteostasis Deficiencies [MESH:D057165] (3522) 
 Amyloidosis [MESH:D000686] (791) 
 Amyloidosis, Familial [MESH:D028226] (696) 
 Corneal dystrophy, gelatinous drop-like [MESH:C535480] (37)
 Cerebral hemorrhage with amyloidosis, hereditary, Dutch type [MESH:C537944] (333)
 Cerebral Amyloid Angiopathy, Familial [MESH:D028243] (377) 
 Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333)
 Cerebral Amyloid Angiopathy [MESH:D016657] (470) 
 Cerebral Amyloid Angiopathy, Familial [MESH:D028243] (377) 
 Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333)
 TDP-43 Proteinopathies [MESH:D057177] (3337) 
 Amyotrophic Lateral Sclerosis [MESH:D000690] (3296) 
 Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559)
 Amyotrophic Lateral Sclerosis 2, Juvenile [MESH:C565957] (29)
 Frontotemporal Lobar Degeneration [MESH:D057174] (308) 
 Frontotemporal Dementia [MESH:D057180] (298)
 Skin Diseases, Metabolic [MESH:D012875] (1574) 
 Lipodystrophy [MESH:D008060] (930) 
 Lipodystrophy, Partial, Acquired [MESH:C562448] (26)
 Lipodystrophy, Familial Partial [MESH:D052496] (589)
 Lipodystrophy, Congenital Generalized [MESH:D052497] (168) 
 Lipodystrophy, Congenital Generalized, Type 3 [MESH:C567282] (145)
 Wasting Syndrome [MESH:D019282] (1959) 
 HIV Wasting Syndrome [MESH:D019247] (1956)
 Water-Electrolyte Imbalance [MESH:D014883] (2790) 
 Hypokalemia [MESH:D007008] (1041)
 Hyponatremia [MESH:D007010] (789)
 Water Intoxication [MESH:D014869] (106)
 Hypercalcemia [MESH:D006934] (1999) 
 Familial benign hypercalcemia, type 3 [MESH:C537147] (18)
 Nutrition Disorders [MESH:D009748] (4945) 
 Malnutrition [MESH:D044342] (2754) 
 Deficiency Diseases [MESH:D003677] (2742) 
 Avitaminosis [MESH:D001361] (2304) 
 Vitamin A Deficiency [MESH:D014802] (705)
 Vitamin B Deficiency [MESH:D014804] (1817) 
 Folic Acid Deficiency [MESH:D005494] (134)
 Hyperhomocysteinemia [MESH:D020138] (1716)
 Vitamin D Deficiency [MESH:D014808] (360) 
 Rickets [MESH:D012279] (341) 
 Rickets, Hypophosphatemic [MESH:D063730] (276) 
 Familial Hypophosphatemic Rickets [MESH:D053098] (274) 
 Vitamin D Hydroxylation-Deficient Rickets, Type 1B [MESH:C564005] (25)
 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
 Z. Exceptions (123) 
 Not Fully Specified [NFS] (123)
 Endocrine System Diseases [MESH:D004700] (8062) 
 Adrenal Gland Diseases [MESH:D000307] (2397) 
 Adrenal Insufficiency [MESH:D000309] (1599) 
 Achalasia Addisonianism Alacrimia syndrome [MESH:C536008] (24)
 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)
 Desbuquois syndrome [MESH:C535943] (20)
 Diastrophic dysplasia [MESH:C536170] (34)
 Seckel syndrome 1 [MESH:C537533] (63)
 Seckel syndrome 2 [MESH:C537534] (7)
 Microcephalic Osteodysplastic Primordial Dwarfism, Type II [MESH:C565898] (7)
 Three M Syndrome 2 [MESH:C567862] (22)
 Endocrine Gland Neoplasms [MESH:D004701] (4925) 
 Multiple Endocrine Neoplasia [MESH:D009377] (375) 
 Multiple Endocrine Neoplasia Type 2b [MESH:D018814] (75)
 Multiple Endocrine Neoplasia Type 2a [MESH:D018813] (102) 
 Familial medullary thyroid carcinoma [MESH:C536911] (101)
 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)
 Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)
 Pituitary Neoplasms [MESH:D010911] (981) 
 Growth Hormone-Secreting Pituitary Adenoma [MESH:D049912] (383)
 Prolactinoma [MESH:D015175] (312)
 Testicular Neoplasms [MESH:D013736] (520) 
 Sertoli-Leydig Cell Tumor [MESH:D018310] (272) 
 Leydig Cell Tumor [MESH:D007984] (267)
 Thyroid Neoplasms [MESH:D013964] (2040) 
 Familial medullary thyroid carcinoma [MESH:C536911] (101)
 Thyroid cancer, medullary [MESH:C536914] (74)
 Gonadal Disorders [MESH:D006058] (5088) 
 Puberty, Delayed [MESH:D011628] (449)
 Disorders of Sex Development [MESH:D012734] (1637) 
 46, XX Disorders of Sex Development [MESH:D058489] (644) 
 Hyperandrogenism [MESH:D017588] (98)
 46, XY Disorders of Sex Development [MESH:D058490] (1060) 
 Androgen-Insensitivity Syndrome [MESH:D013734] (567)
 Kallmann Syndrome [MESH:D017436] (147)
 Adrenogenital Syndrome [MESH:D047808] (715) 
 Hyperandrogenism [MESH:D017588] (98)
 Hypogonadism [MESH:D007006] (1123) 
 Kallmann Syndrome [MESH:D017436] (147)
 Ovarian Diseases [MESH:D010049] (4253) 
 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) 
 Testicular Neoplasms [MESH:D013736] (520) 
 Sertoli-Leydig Cell Tumor [MESH:D018310] (272) 
 Leydig Cell Tumor [MESH:D007984] (267)
 Parathyroid Diseases [MESH:D010279] (1604) 
 Hyperparathyroidism [MESH:D006961] (1475) 
 Hyperparathyroidism, Secondary [MESH:D006962] (1138)
 Hypoparathyroidism [MESH:D007011] (376) 
 Barakat syndrome [MESH:C537907] (71)
 22q11 Deletion Syndrome [MESH:D058165] (237) 
 DiGeorge Syndrome [MESH:D004062] (236)
 Pituitary Diseases [MESH:D010900] (1829) 
 Hyperpituitarism [MESH:D006964] (1259) 
 Hyperprolactinemia [MESH:D006966] (603)
 Hypopituitarism [MESH:D007018] (732) 
 Panhypopituitarism X-linked [MESH:C538613] (18)
 Mental Retardation, X-Linked, With Panhypopituitarism [MESH:C567485] (18)
 Pituitary Neoplasms [MESH:D010911] (981) 
 Growth Hormone-Secreting Pituitary Adenoma [MESH:D049912] (383)
 Prolactinoma [MESH:D015175] (312)
 Thyroid Diseases [MESH:D013959] (2808) 
 Goiter [MESH:D006042] (359) 
 Graves Disease [MESH:D006111] (278) 
 Graves Ophthalmopathy [MESH:D049970] (165)
 Hyperthyroidism [MESH:D006980] (1191) 
 Graves Disease [MESH:D006111] (278) 
 Graves Ophthalmopathy [MESH:D049970] (165)
 Thyroid Neoplasms [MESH:D013964] (2040) 
 Familial medullary thyroid carcinoma [MESH:C536911] (101)
 Thyroid cancer, medullary [MESH:C536914] (74)
C20. Immune System Diseases 
C20. Immune System Diseases
 Immune System Diseases [MESH:D007154] (7674) 
 Autoimmune Diseases [MESH:D001327] (5067) 
 Arthritis, Juvenile [MESH:D001171] (1060)
 Arthritis, Rheumatoid [MESH:D001172] (3601)
 Hepatitis, Autoimmune [MESH:D019693] (1982)
 Lupus Erythematosus, Systemic [MESH:D008180] (2317)
 Autoimmune Diseases of the Nervous System [MESH:D020274] (2238) 
 Aicardi-Goutieres Syndrome 4 [MESH:C563681] (39)
 Demyelinating Autoimmune Diseases, CNS [MESH:D020278] (1732) 
 Multiple Sclerosis [MESH:D009103] (1716)
 Nervous System Autoimmune Disease, Experimental [MESH:D020721] (810) 
 Encephalomyelitis, Autoimmune, Experimental [MESH:D004681] (806)
 Polyradiculoneuropathy [MESH:D011129] (197) 
 Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172)
 Diabetes Mellitus, Type 1 [MESH:D003922] (1893) 
 Wolcott-Rallison syndrome [MESH:C536739] (92)
 Graves Disease [MESH:D006111] (278) 
 Graves Ophthalmopathy [MESH:D049970] (165)
 Blood Group Incompatibility [MESH:D001787] (277) 
 Erythroblastosis, Fetal [MESH:D004899] (275) 
 Kernicterus [MESH:D007647] (256)
 Hypersensitivity [MESH:D006967] (5873) 
 Drug Hypersensitivity [MESH:D004342] (4000)
 Hypersensitivity, Delayed [MESH:D006968] (3408) 
 Dermatitis, Allergic Contact [MESH:D017449] (3241)
 Hypersensitivity, Immediate [MESH:D006969] (4980) 
 Dermatitis, Atopic [MESH:D003876] (2052)
 Urticaria [MESH:D014581] (2668)
 Food Hypersensitivity [MESH:D005512] (608) 
 Peanut Hypersensitivity [MESH:D021183] (572)
 Respiratory Hypersensitivity [MESH:D012130] (4250) 
 Asthma [MESH:D001249] (3914)
 Immunologic Deficiency Syndromes [MESH:D007153] (3788) 
 Complement component 5 deficiency [MESH:C537005] (55)
 LIG4 Syndrome [MESH:C564694] (24)
 Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant [MESH:C567411] (533)
 HIV Infections [MESH:D015658] (3402) 
 Acquired Immunodeficiency Syndrome [MESH:D000163] (743)
 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) 
 Job Syndrome [MESH:D007589] (772) 
 Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant [MESH:C567925] (283)
 Immunoproliferative Disorders [MESH:D007160] (4761) 
 Hypergammaglobulinemia [MESH:D006942] (137)
 Lymphoproliferative Disorders [MESH:D008232] (4734) 
 Giant Lymph Node Hyperplasia [MESH:D005871] (1013)
 Multiple Myeloma [MESH:D009101] (2767)
 Leukemia, Lymphoid [MESH:D007945] (3047) 
 Leukemia, T-Cell [MESH:D015458] (395)
 Leukemia, B-Cell [MESH:D015448] (2564) 
 Leukemia, Lymphocytic, Chronic, B-Cell [MESH:D015451] (2562)
 Precursor Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054198] (1754) 
 Precursor B-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D015452] (354)
 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054218] (510)
 Lymphangiomyoma [MESH:D008203] (163) 
 Lymphangioleiomyomatosis [MESH:D018192] (162)
 Lymphoma [MESH:D008223] (3684) 
 Hodgkin Disease [MESH:D006689] (1082)
 Lymphoma, Non-Hodgkin [MESH:D008228] (3330) 
 Burkitt Lymphoma [MESH:D002051] (691)
 Lymphoma, Follicular [MESH:D008224] (1025)
 Lymphoma, B-Cell [MESH:D016393] (2624) 
 Burkitt Lymphoma [MESH:D002051] (691)
 Lymphoma, Large B-Cell, Diffuse [MESH:D016403] (2012)
 Lymphoma, T-Cell [MESH:D016399] (1382) 
 Lymphoma, Large-Cell, Anaplastic [MESH:D017728] (420)
 Paraproteinemias [MESH:D010265] (2791) 
 Multiple Myeloma [MESH:D009101] (2765)
C22. Animal Diseases 
C22. Animal Diseases
 Animal Diseases [MESH:D000820] (3656) 
 Disease Models, Animal [MESH:D004195] (2058)
 Hepatitis, Animal [MESH:D006520] (260)
 Mammary Neoplasms, Animal [MESH:D015674] (2735)
C23. Pathological Conditions, Signs and Symptoms 
C23. Pathological Conditions, Signs and Symptoms
 Pathological Conditions, Anatomical [MESH:D020763] (6074) 
 Plaque, Amyloid [MESH:D058225] (334)
 Plaque, Atherosclerotic [MESH:D058226] (696)
 Ventricular Remodeling [MESH:D020257] (686)
 Agenesis of Corpus Callosum [MESH:D061085] (197) 
 Chudley-Mccullough syndrome [MESH:C535459] (45)
 Proud Syndrome [MESH:C563110] (12)
 Corpus Callosum, Partial Agenesis of, X-Linked [MESH:C564115] (37)
 Alopecia [MESH:D000505] (1383) 
 Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78)
 Atrophy [MESH:D001284] (2603) 
 Muscular Atrophy [MESH:D009133] (1234)
 Cysts [MESH:D003560] (133) 
 Van der Woude syndrome [MESH:C536528] (33)
 Hernia [MESH:D006547] (2825) 
 Hernia, Diaphragmatic [MESH:D006548] (2647)
 Encephalocele [MESH:D004677] (151) 
 Parietal Foramina With Cleidocranial Dysplasia [MESH:C566825] (36)
 Parietal Foramina [MESH:C566826] (42)
 Hypertrophy [MESH:D006984] (4476) 
 Hepatomegaly [MESH:D006529] (1169)
 Splenomegaly [MESH:D013163] (1258)
 Cardiomegaly [MESH:D006332] (3802) 
 Hypertrophy, Left Ventricular [MESH:D017379] (1430)
 Nails, Malformed [MESH:D009264] (184) 
 Anonychia congenita [MESH:C536377] (69)
 Polyps [MESH:D011127] (1633) 
 Intestinal Polyps [MESH:D007417] (1592)
 Pathologic Processes [MESH:D010335] (9863) 
 Emphysema [MESH:D004646] (1096)
 Gliosis [MESH:D005911] (1419)
 Hyperplasia [MESH:D006965] (2463)
 Lithiasis [MESH:D020347] (345)
 Muscle Weakness [MESH:D018908] (478)
 Nerve Degeneration [MESH:D009410] (4061)
 Ulcer [MESH:D014456] (392)
 Arrhythmias, Cardiac [MESH:D001145] (4658) 
 Atrial Fibrillation [MESH:D001281] (1053)
 Bradycardia [MESH:D001919] (1899)
 Long QT Syndrome [MESH:D008133] (691)
 Tachycardia [MESH:D013610] (3339)
 Chromosome Aberrations [MESH:D002869] (2352) 
 Chromosomal Instability [MESH:D043171] (67)
 Chromosome Breakage [MESH:D019457] (139)
 Aneuploidy [MESH:D000782] (1237) 
 Monosomy [MESH:D009006] (1121) 
 Chromosome Deletion [MESH:D002872] (1117) 
 Chromosome 3, monosomy 3p25 [MESH:C536807] (76)
 Kleefstra Syndrome [MESH:C563043] (25)
 Death [MESH:D003643] (1328) 
 Embryo Loss [MESH:D020964] (288)
 Death, Sudden [MESH:D003645] (725) 
 Sudden Infant Death [MESH:D013398] (268) 
 Sudden Infant Death with Dysgenesis of the Testes Syndrome [MESH:C563856] (16)
 Fetal Death [MESH:D005313] (464) 
 Fetal Resorption [MESH:D005327] (302)
 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)
 Macrocephaly Autism Syndrome [MESH:C565342] (151)
 Fibrosis [MESH:D005355] (3133) 
 Cicatrix [MESH:D002921] (1115) 
 Keloid [MESH:D007627] (1110)
 Genomic Instability [MESH:D042822] (184) 
 Chromosomal Instability [MESH:D043171] (67)
 Growth Disorders [MESH:D006130] (2438) 
 Meier-Gorlin syndrome [MESH:C538012] (133)
 LIG4 Syndrome [MESH:C564694] (24)
 Spondyloepimetaphyseal Dysplasia, Pakistani Type [MESH:C567551] (63)
 Fetal Growth Retardation [MESH:D005317] (986) 
 Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)
 Finnish lethal neonatal metabolic syndrome [MESH:C537934] (23)
 Microcephalic Osteodysplastic Primordial Dwarfism, Type II [MESH:C565898] (7)
 Hemorrhage [MESH:D006470] (4451) 
 Shock, Hemorrhagic [MESH:D012771] (2042)
 Intracranial Hemorrhages [MESH:D020300] (3241) 
 Subarachnoid Hemorrhage [MESH:D013345] (1081)
 Cerebral Hemorrhage [MESH:D002543] (2872) 
 Cerebral hemorrhage with amyloidosis, hereditary, Dutch type [MESH:C537944] (333)
 Purpura [MESH:D011693] (475) 
 Purpura, Thrombocytopenic [MESH:D011696] (237) 
 Purpura, Thrombotic Thrombocytopenic [MESH:D011697] (222)
 Hyperammonemia [MESH:D022124] (322) 
 HHH syndrome [MESH:C538380] (29)
 Hyperbilirubinemia [MESH:D006932] (1860) 
 Kernicterus [MESH:D007647] (256)
 Hyperbilirubinemia, Neonatal [MESH:D051556] (258) 
 Hyperbilirubinemia, Transient Familial Neonatal [MESH:C562692] (254)
 Inflammation [MESH:D007249] (5241) 
 Neurogenic Inflammation [MESH:D020078] (2246)
 Systemic Inflammatory Response Syndrome [MESH:D018746] (3563) 
 Sepsis [MESH:D018805] (3562) 
 Shock, Septic [MESH:D012772] (1830)
 Bacteremia [MESH:D016470] (1369) 
 Endotoxemia [MESH:D019446] (1289)
 Ischemia [MESH:D007511] (3049) 
 Infarction [MESH:D007238] (298)
 No-Reflow Phenomenon [MESH:D054318] (277)
 Menstruation Disturbances [MESH:D008599] (926) 
 Amenorrhea [MESH:D000568] (817)
 Dysmenorrhea [MESH:D004412] (189)
 Metaplasia [MESH:D008679] (1469) 
 Neovascularization, Pathologic [MESH:D009389] (829) 
 Choroidal Neovascularization [MESH:D020256] (550)
 Necrosis [MESH:D009336] (4019) 
 Infarction [MESH:D007238] (298)
 Neoplastic Processes [MESH:D009385] (5317) 
 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)
 Ossification, Heterotopic [MESH:D009999] (187) 
 Desbuquois syndrome [MESH:C535943] (20)
 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, Hemorrhagic [MESH:D012771] (2042)
 Systemic Inflammatory Response Syndrome [MESH:D018746] (1832) 
 Shock, Septic [MESH:D012772] (1830)
 Signs and Symptoms [MESH:D012816] (10659) 
 Asthenia [MESH:D001247] (376)
 Cyanosis [MESH:D003490] (288)
 Feminization [MESH:D005262] (655)
 Fetal Distress [MESH:D005316] (99)
 Flushing [MESH:D005483] (506)
 Hypergammaglobulinemia [MESH:D006942] (105)
 Body Temperature Changes [MESH:D001832] (3130) 
 Fever [MESH:D005334] (2856)
 Hypothermia [MESH:D007035] (2075)
 Body Weight [MESH:D001835] (4972) 
 Body Weight Changes [MESH:D001836] (3206) 
 Weight Gain [MESH:D015430] (2595)
 Weight Loss [MESH:D015431] (2512) 
 Emaciation [MESH:D004614] (2285) 
 Cachexia [MESH:D002100] (2283)
 Overweight [MESH:D050177] (4455) 
 Obesity [MESH:D009765] (4454) 
 Obesity, Morbid [MESH:D009767] (515)
 Edema [MESH:D004487] (3726) 
 Edema, Cardiac [MESH:D004489] (27)
 Failure to Thrive [MESH:D005183] (415) 
 Cardiofaciocutaneous syndrome [MESH:C535579] (407)
 Neurologic Manifestations [MESH:D009461] (8702) 
 Gait Disorders, Neurologic [MESH:D020233] (491)
 Dyskinesias [MESH:D020820] (3285) 
 Catalepsy [MESH:D002375] (1429)
 Hyperkinesis [MESH:D006948] (1799)
 Hypokinesia [MESH:D018476] (279)
 Psychomotor Agitation [MESH:D011595] (210)
 Ataxia [MESH:D001259] (984) 
 Partington X-linked mental retardation syndrome [MESH:C536300] (12)
 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract [MESH:C567203] (27)
 Neurobehavioral Manifestations [MESH:D019954] (4706) 
 Apraxias [MESH:D001072] (114)
 Lethargy [MESH:D053609] (1035)
 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) 
 MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome [MESH:C536029] (37)
 Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)
 Kleefstra Syndrome [MESH:C563043] (25)
 Proud Syndrome [MESH:C563110] (12)
 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)
 Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65)
 Mental Retardation, Autosomal Recessive 4 [MESH:C567008] (3)
 Mental Retardation, X-Linked, With Panhypopituitarism [MESH:C567485] (18)
 Psychomotor Disorders [MESH:D011596] (576) 
 Fumaric aciduria [MESH:C538191] (27)
 Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83)
 Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy [MESH:C567020] (21)
 Apraxias [MESH:D001072] (118)
 Psychomotor Agitation [MESH:D011595] (167)
 Neuromuscular Manifestations [MESH:D020879] (2130) 
 Muscle Weakness [MESH:D018908] (478)
 Muscular Atrophy [MESH:D009133] (1234)
 Spasm [MESH:D013035] (418)
 Muscle Hypertonia [MESH:D009122] (775) 
 Muscle Spasticity [MESH:D009128] (187) 
 Spastic ataxia Charlevoix-Saguenay type [MESH:C536787] (37)
 Muscle Hypotonia [MESH:D009123] (258) 
 Fumaric aciduria [MESH:C538191] (27)
 Three M Syndrome 2 [MESH:C567862] (22)
 Pain [MESH:D010146] (3869) 
 Headache [MESH:D006261] (1417)
 Neuralgia [MESH:D009437] (2074)
 Paralysis [MESH:D010243] (2298) 
 Quadriplegia [MESH:D011782] (115)
 Ophthalmoplegia [MESH:D009886] (1468) 
 Oculootoradial syndrome [MESH:C535544] (14)
 Supranuclear Palsy, Progressive [MESH:D013494] (235)
 Reflex, Abnormal [MESH:D012021] (485) 
 Reflex, Babinski [MESH:D001405] (97)
 Seizures [MESH:D012640] (4502) 
 Partington X-linked mental retardation syndrome [MESH:C536300] (12)
 Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83)
 Sensation Disorders [MESH:D012678] (5009) 
 Taste Disorders [MESH:D013651] (461)
 Hearing Disorders [MESH:D006311] (2101) 
 Hearing Loss [MESH:D034381] (2066) 
 Deafness [MESH:D003638] (593) 
 Charcot-Marie-Tooth Disease, Demyelinating, Type 1e [MESH:C566136] (76)
 Hearing Loss, Bilateral [MESH:D006312] (55) 
 Oculootoradial syndrome [MESH:C535544] (14)
 Hearing Loss, Sensorineural [MESH:D006319] (1227) 
 Chudley-Mccullough syndrome [MESH:C535459] (45)
 Griscelli syndrome type 1 [MESH:C537301] (42)
 Bjornstad syndrome [MESH:C537633] (23)
 Barakat syndrome [MESH:C537907] (71)
 Deafness, Autosomal Dominant 9 [MESH:C563335] (33)
 Deafness, Autosomal Recessive 37 [MESH:C564331] (35)
 Deafness, Autosomal Recessive 28 [MESH:C565218] (26)
 Hearing Loss, Noise-Induced [MESH:D006317] (134)
 Hearing Loss, Central [MESH:D006313] (140) 
 Auditory Neuropathy, Autosomal Dominant, 1 [MESH:C563790] (92)
 Somatosensory Disorders [MESH:D020886] (4000) 
 Hyperalgesia [MESH:D006930] (3929)
 Paresthesia [MESH:D010292] (416)
 Pain [MESH:D010146] (4511) 
 Headache [MESH:D006261] (1417)
 Neuralgia [MESH:D009437] (2074)
 Chest Pain [MESH:D002637] (2642) 
 Angina Pectoris [MESH:D000787] (2568) 
 Acute Coronary Syndrome [MESH:D054058] (2286)
 Angina, Stable [MESH:D060050] (1702)
 Facial Pain [MESH:D005157] (56) 
 Toothache [MESH:D014098] (46)
 Pelvic Pain [MESH:D017699] (198) 
 Dysmenorrhea [MESH:D004412] (189)
 Signs and Symptoms, Digestive [MESH:D012817] (3095) 
 Anorexia [MESH:D000855] (854)
 Diarrhea [MESH:D003967] (858)
 Hyperphagia [MESH:D006963] (206)
 Nausea [MESH:D009325] (2300)
 Signs and Symptoms, Respiratory [MESH:D012818] (2724) 
 Anoxia [MESH:D000860] (1698)
 Hyperoxia [MESH:D018496] (694)
 Hyperventilation [MESH:D006985] (652)
 Hypoventilation [MESH:D007040] (359) 
 Congenital central hypoventilation syndrome [MESH:C536209] (341)
 Skin Manifestations [MESH:D012877] (1250) 
 Pruritus [MESH:D011537] (648)
 Cafe-au-Lait Spots [MESH:D019080] (186) 
 Cafe au lait spots, multiple [MESH:C537421] (102)
 Purpura [MESH:D011693] (475) 
 Purpura, Thrombocytopenic [MESH:D011696] (237) 
 Purpura, Thrombotic Thrombocytopenic [MESH:D011697] (222)
 Urological Manifestations [MESH:D020924] (3532) 
 Polyuria [MESH:D011141] (279)
 Lower Urinary Tract Symptoms [MESH:D059411] (612) 
 Urinary Bladder, Overactive [MESH:D053201] (530)
 Proteinuria [MESH:D011507] (3293) 
 Albuminuria [MESH:D000419] (2394)
 Hemoglobinuria [MESH:D006456] (75) 
 CD59 Deficiency [MESH:C567355] (57)
C24. Occupational Diseases 
C24. Occupational Diseases
 Z. Exceptions (1530) 
 Not Fully Specified [NFS] (1530)
 Occupational Diseases [MESH:D009784] (3402) 
 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 Hypersensitivity [MESH:D004342] (4001)
 Drug-Induced Liver Injury [MESH:D056486] (4936)
 Poisoning [MESH:D011041] (6703) 
 Arsenic Poisoning [MESH:D020261] (2540)
 Cadmium Poisoning [MESH:D002105] (180)
 Drug-Induced Liver Injury [MESH:D056486] (4936)
 Manganese Poisoning [MESH:D020149] (2214)
 Psychoses, Substance-Induced [MESH:D011605] (2053)
 Water Intoxication [MESH:D014869] (106)
 Neurotoxicity Syndromes [MESH:D020258] (3323) 
 Alcohol-Induced Disorders, Nervous System [MESH:D020268] (128) 
 Alcohol Withdrawal Seizures [MESH:D020270] (64)
 Substance-Related Disorders [MESH:D019966] (6308) 
 Amphetamine-Related Disorders [MESH:D019969] (2858)
 Cocaine-Related Disorders [MESH:D019970] (3054)
 Marijuana Abuse [MESH:D002189] (1132)
 Opioid-Related Disorders [MESH:D009293] (1491)
 Phencyclidine Abuse [MESH:D010623] (288)
 Psychoses, Substance-Induced [MESH:D011605] (2052)
 Tobacco Use Disorder [MESH:D014029] (628)
 Alcohol-Related Disorders [MESH:D019973] (3869) 
 Alcoholism [MESH:D000437] (1519)
 Alcohol-Induced Disorders [MESH:D020751] (3350) 
 Alcohol-Induced Disorders, Nervous System [MESH:D020268] (128) 
 Alcohol Withdrawal Seizures [MESH:D020270] (64)
 Liver Diseases, Alcoholic [MESH:D008108] (3243) 
 Hepatitis, Alcoholic [MESH:D006519] (1613)
 Liver Cirrhosis, Alcoholic [MESH:D008104] (3066)
 Substance Withdrawal Syndrome [MESH:D013375] (2956) 
 Alcohol Withdrawal Seizures [MESH:D020270] (64)
C26. Wounds and Injuries 
C26. Wounds and Injuries
 Z. Exceptions (2454) 
 Not Fully Specified [NFS] (2454)
 Wounds and Injuries [MESH:D014947] (5171) 
 Burns [MESH:D002056] (2565)
 Heat Stress Disorders [MESH:D018882] (226)
 Vascular System Injuries [MESH:D057772] (2086)
 Craniocerebral Trauma [MESH:D006259] (3523) 
 Brain Injuries [MESH:D001930] (3431)
 Fractures, Bone [MESH:D050723] (597) 
 Femoral Fractures [MESH:D005264] (137)
 Leg Injuries [MESH:D007869] (152) 
 Femoral Fractures [MESH:D005264] (137)
 Radiation Injuries [MESH:D011832] (2718) 
 Radiation Injuries, Experimental [MESH:D011833] (2662)
 Rupture [MESH:D012421] (646) 
 Aortic Rupture [MESH:D001019] (637)
 Spinal Cord Injuries [MESH:D013119] (2688) 
 Spinal Cord Compression [MESH:D013117] (1800)
 Thoracic Injuries [MESH:D013898] (1831) 
 Lung Injury [MESH:D055370] (1814)
 Trauma, Nervous System [MESH:D020196] (3535) 
 Craniocerebral Trauma [MESH:D006259] (3507) 
 Brain Injuries [MESH:D001930] (3431)
D03. Heterocyclic Compounds 
D03. Heterocyclic Compounds
 Heterocyclic Compounds [MESH:D006571] (56330) 
 Heterocyclic Compounds, 2-Ring [MESH:D006574] (24204) 
 Benzopyrans [MESH:D001578] (5622) 
 Chromones [MESH:D002867] (3329) 
 Flavonoids [MESH:D005419] (3001) 
 Isoflavones [MESH:D007529] (486) 
 Coumestrol [MESH:D003375] (3)
 Coumarins [MESH:D003374] (1305) 
 Coumestrol [MESH:D003375] (3)
 Pyrans [MESH:D011714] (6850) 
 Benzopyrans [MESH:D001578] (5610) 
 Chromones [MESH:D002867] (3317) 
 Flavonoids [MESH:D005419] (2989) 
 Isoflavones [MESH:D007529] (483) 
 Coumestrol [MESH:D003375] (3)
 Coumarins [MESH:D003374] (1305) 
 Coumestrol [MESH:D003375] (3)
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)
 Macrocephaly Autism Syndrome [MESH:C565342] (151)
F. Psychiatry and Psychology 
F. Psychiatry and Psychology
 Behavior and Behavior Mechanisms [MESH:D001520] (1594) 
 Neurobehavioral Manifestations [MESH:D019954] (1206) 
 Intellectual Disability [MESH:D008607] (1109) 
 MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome [MESH:C536029] (37)
 Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)
 Kleefstra Syndrome [MESH:C563043] (25)
 Proud Syndrome [MESH:C563110] (12)
 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)
 Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65)
 Mental Retardation, Autosomal Recessive 4 [MESH:C567008] (3)
 Mental Retardation, X-Linked, With Panhypopituitarism [MESH:C567485] (18)
 Psychomotor Disorders [MESH:D011596] (250) 
 Fumaric aciduria [MESH:C538191] (27)
 Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83)
 Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy [MESH:C567020] (21)
 Mental Disorders [MESH:D001523] (2063) 
 Mental Disorders Diagnosed in Childhood [MESH:D019952] (1245) 
 Child Development Disorders, Pervasive [MESH:D002659] (157) 
 Autistic Disorder [MESH:D001321] (154) 
 Macrocephaly Autism Syndrome [MESH:C565342] (151)
 Intellectual Disability [MESH:D008607] (1109) 
 MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome [MESH:C536029] (37)
 Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)
 Kleefstra Syndrome [MESH:C563043] (25)
 Proud Syndrome [MESH:C563110] (12)
 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)
 Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65)
 Mental Retardation, Autosomal Recessive 4 [MESH:C567008] (3)
 Mental Retardation, X-Linked, With Panhypopituitarism [MESH:C567485] (18)
G. Phenomena and Processes 
G. Phenomena and Processes
 Genetic Phenomena [MESH:D055614] (1922) 
 Genetic Processes [MESH:D039361] (1336) 
 Mutagenesis [MESH:D016296] (1150) 
 Sequence Deletion [MESH:D017384] (1120) 
 Chromosome Deletion [MESH:D002872] (1117) 
 Chromosome 3, monosomy 3p25 [MESH:C536807] (76)
 Kleefstra Syndrome [MESH:C563043] (25)
 Genetic Structures [MESH:D040342] (1612) 
 Chromosomes [MESH:D002875] (1304) 
 Chromosomes, Mammalian [MESH:D033481] (1282) 
 Chromosomes, Human [MESH:D002877] (1280) 
 Chromosomes, Human, 1-3 [MESH:D002900] (128) 
 Chromosomes, Human, Pair 3 [MESH:D002893] (90) 
 Chromosome 3, monosomy 3p25 [MESH:C536807] (76)
 Chromosomes, Human, 6-12 and X [MESH:D002906] (120) 
 Chromosomes, Human, Pair 9 [MESH:D002899] (40) 
 Kleefstra Syndrome [MESH:C563043] (25)
 Genetic Variation [MESH:D014644] (1337) 
 Mutation [MESH:D009154] (1327) 
 Allelic Imbalance [MESH:D022981] (1120) 
 Loss of Heterozygosity [MESH:D019656] (1119) 
 Chromosome Deletion [MESH:D002872] (1117) 
 Chromosome 3, monosomy 3p25 [MESH:C536807] (76)
 Kleefstra Syndrome [MESH:C563043] (25)
 Chromosome Aberrations [MESH:D002869] (1297) 
 Aneuploidy [MESH:D000782] (1220) 
 Monosomy [MESH:D009006] (1121) 
 Chromosome Deletion [MESH:D002872] (1117) 
 Chromosome 3, monosomy 3p25 [MESH:C536807] (76)
 Kleefstra Syndrome [MESH:C563043] (25)
 Mosaicism [MESH:D009030] (116) 
 Mosaic variegated aneuploidy syndrome [MESH:C536987] (95)
 Sequence Deletion [MESH:D017384] (1120) 
 Chromosome Deletion [MESH:D002872] (1117) 
 Chromosome 3, monosomy 3p25 [MESH:C536807] (76)
 Kleefstra Syndrome [MESH:C563043] (25)
 Ploidies [MESH:D011003] (1227) 
 Aneuploidy [MESH:D000782] (1220) 
 Monosomy [MESH:D009006] (1121) 
 Chromosome Deletion [MESH:D002872] (1117) 
 Chromosome 3, monosomy 3p25 [MESH:C536807] (76)
 Kleefstra Syndrome [MESH:C563043] (25)