Item 22 of 83 (back to results) previous next   beta-methylcholine C044887               MeSH Unique Identifier: C044887 Scope Notes: See also record for methylcholine Chemical – Gene Interaction Note 1: Beta-methylcholine affects the expression of AASDHPPT mRNA Note 2: Beta-methylcholine affects the expression of ABCA3 mRNA Click here for more information

Current search: C05. Musculoskeletal Diseases: Musculoskeletal Diseases [MESH:D009140] > Musculoskeletal Abnormalities [MESH:D009139] > Craniofacial Abnormalities [MESH:D019465] > Microcephaly [MESH:D008831] > Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] × Select any link to see items in a related category. more general categories    information about this item 1. Human Genes  1. Human Genes  ADAM metallopeptidases with thrombospondin type 1 motif [HGNC:ADAMTS] (53)   ADAM metallopeptidase with thrombospondin type 1 motif, 01 [HGNC:ADAMTS1] (34)  ADP-ribosylation factor GTPase activating proteins [HGNC:ARFGAP] (20)   ADP-ribosylation factor GTPase activating protein 1 [HGNC:ARFGAP1] (3)  ADP-ribosylation factor GTPase activating protein 2 [HGNC:ARFGAP2] (6)  A-kinase anchor proteins [HGNC:AKAP] (99)   A kinase (PRKA) anchor protein 13 [HGNC:AKAP13] (18)  Aldehyde dehydrogenases [HGNC:ALDH] (54)   aldehyde dehydrogenase 06 family, member A1 [HGNC:ALDH6A1] (27)  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)   ankyrin repeat and sterile alpha motif domain containing 1A [HGNC:ANKS1A] (6)  ankyrin repeat domain 11 [HGNC:ANKRD11] (18)  nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 [HGNC:NFKB1] (254)  Argonaute/PIWI family [HGNC:AGO] (23)   argonaute RISC catalytic component 2 [HGNC:AGO2] (23)  Armadillo repeat containing [HGNC:ARMC] (176)   junction plakoglobin [HGNC:JUP] (20)  ATPases [HGNC:ATP] (106)   ATPases, AAA [HGNC:AATP] (69)   AFG3 ATPase family member 3-like 2 (S. cerevisiae) [HGNC:AFG3L2] (3)  spastic paraplegia 7 (pure and complicated autosomal recessive) [HGNC:SPG7] (7)  spastin [HGNC:SPAST] (8)  ATPases, V-type [HGNC:VATP] (14)   ATPase, H+ transporting, lysosomal V0 subunit a2 [HGNC:ATP6V0A2] (10)  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)  Basic helix-loop-helix [HGNC:BHLH] (618)   endothelial PAS domain protein 1 [HGNC:EPAS1] (39)  hairy/enhancer-of-split related with YRPW motif 1 [HGNC:HEY1] (25)  inhibitor of DNA binding 2, dominant negative helix-loop-helix protein [HGNC:ID2] (69)  inhibitor of DNA binding 3, dominant negative helix-loop-helix protein [HGNC:ID3] (47)  MNT, MAX dimerization protein [HGNC:MNT] (15)  transcription factor 03 [HGNC:TCF3] (21)  transcription factor 12 [HGNC:TCF12] (23)  transcription factor-like 5 (basic helix-loop-helix) [HGNC:TCFL5] (9)  v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog [HGNC:MYCN] (29)  Basic leucine zipper proteins [HGNC:bZIP] (670)   CCAAT/enhancer binding protein (C/EBP), beta [HGNC:CEBPB] (71)  jun proto-oncogene [HGNC:JUN] (290)  nuclear factor, erythroid 2-like 2 [HGNC:NFE2L2] (213)  Beta 3-glycosyltransferases [HGNC:B3GT] (48)   UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4 [HGNC:B4GALT4] (7)  BTB domain containing [HGNC:BTBD] (83)   kelch-like family member 7 [HGNC:KLHL7] (11)  SLX4 structure-specific endonuclease subunit [HGNC:SLX4] (3)  speckle-type POZ protein [HGNC:SPOP] (2)  tumor necrosis factor, alpha-induced protein 1 (endothelial) [HGNC:TNFAIP1] (5)  Cas scaffolding proteins [HGNC:CASS] (23)   breast cancer anti-estrogen resistance 1 [HGNC:BCAR1] (23)  CD molecules [HGNC:CD] (1459)   colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) [HGNC:CSF2RA] (9)  hyaluronan-mediated motility receptor (RHAMM) [HGNC:HMMR] (41)  insulin-like growth factor 2 receptor [HGNC:IGF2R] (23)  interleukin 10 receptor, beta [HGNC:IL10RB] (17)  neural cell adhesion molecule 1 [HGNC:NCAM1] (15)  platelet-derived growth factor receptor, beta polypeptide [HGNC:PDGFRB] (49)  solute carrier family 07 (amino acid transporter light chain, L system), member 05 [HGNC:SLC7A5] (51)  tetraspanin 07 [HGNC:TSPAN7] (17)  transferrin receptor (p90, CD71) [HGNC:TFRC] (84)  tumor necrosis factor receptor superfamily, member 01A [HGNC:TNFRSF1A] (72)  vascular cell adhesion molecule 1 [HGNC:VCAM1] (172)  Chloride channels [HGNC:CLCNS] (69)   Chloride channels, voltage-sensitive [HGNC:CLCN] (39)   chloride channel, voltage-sensitive 7 [HGNC:CLCN7] (8)  Chloride intracellular channels [HGNC:CLIC] (39)   chloride intracellular channel 4 [HGNC:CLIC4] (19)  Coiled-coil-helix-coiled-coil-helix domain containing [HGNC:CHCHD] (6)   coiled-coil-helix-coiled-coil-helix domain containing 3 [HGNC:CHCHD3] (6)  Collagens [HGNC:COL] (230)   collagen, type IV, alpha 1 [HGNC:COL4A1] (18)  collagen, type IV, alpha 2 [HGNC:COL4A2] (26)  collagen, type V, alpha 1 [HGNC:COL5A1] (17)  Collectins [HGNC:COLEC] (37)   collectin sub-family member 11 [HGNC:COLEC11] (3)  C-type lectin domain containing [HGNC:CLEC] (81)   C-type lectin domain family 16, member A [HGNC:CLEC16A] (7)  Cyclin-dependent kinases [HGNC:CDK] (338)   cyclin-dependent kinase 01 [HGNC:CDK1] (151)  cyclin-dependent kinase 06 [HGNC:CDK6] (55)  cyclin-dependent kinase 20 [HGNC:CDK20] (8)  Cytochrome b [HGNC:CYB] (73)   cytochrome b5 type A (microsomal) [HGNC:CYB5A] (27)  DDB1 and CUL4 associated factors [HGNC:DCAF] (30)   DDB1 and CUL4 associated factor 07 [HGNC:DCAF7] (9)  denticleless E3 ubiquitin protein ligase homolog (Drosophila) [HGNC:DTL] (23)  DNA polymerases [HGNC:POL] (47)   polymerase (DNA directed), beta [HGNC:POLB] (15)  Dolichyl D-mannosyl phosphate dependent mannosyltransferases [HGNC:DOLPM] (30)   protein-O-mannosyltransferase 1 [HGNC:POMT1] (4)  Dyneins, cytoplasmic [HGNC:DYN] (49)   dynein, light chain, LC8-type 1 [HGNC:DYNLL1] (20)  EF-hand domain containing [HGNC:EFHAND] (226)   multiple coagulation factor deficiency 2 [HGNC:MCFD2] (8)  plastin 3 [HGNC:PLS3] (15)  protein phosphatase 3, regulatory subunit B, alpha [HGNC:PPP3R1] (10)  Endogenous Ligands [HGNC:ENDOLIG] (1191)   chemokine (C-X3-C motif) ligand 01 [HGNC:CX3CL1] (37)  interleukin 08 [HGNC:IL8] (649)  Ephrins [HGNC:EFN] (55)   ephrin-A1 [HGNC:EFNA1] (32)  ephrin-B2 [HGNC:EFNB2] (32)  Exportins [HGNC:XPO] (10)   exportin 6 [HGNC:XPO6] (10)  Fanconi anemia, complementation groups [HGNC:FANC] (81)   Fanconi anemia, complementation group I [HGNC:FANCI] (28)  Fanconi anemia, complementation group L [HGNC:FANCL] (21)  RAD51 paralog C [HGNC:RAD51C] (30)  SLX4 structure-specific endonuclease subunit [HGNC:SLX4] (3)  Fibrinogen C domain containing [HGNC:FIBC] (113)   tenascin C [HGNC:TNC] (33)  Fibronectin type III domain containing [HGNC:FN3] (399)   fibronectin type III and SPRY domain containing 1 [HGNC:FSD1] (3)  leucine rich repeat neuronal 3 [HGNC:LRRN3] (8)  neural cell adhesion molecule 1 [HGNC:NCAM1] (15)  neuronal cell adhesion molecule [HGNC:NRCAM] (17)  tenascin C [HGNC:TNC] (33)  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 C1 [HGNC:FOXC1] (20)  forkhead box O3 [HGNC:FOXO3] (41)  Frizzled receptors [HGNC:FZD] (42)   frizzled family receptor 2 [HGNC:FZD2] (22)  Gap junction proteins (connexins) [HGNC:GJ] (78)   gap junction protein, gamma 1, 45kDa [HGNC:GJC1] (14)  General transcription factors [HGNC:GTF] (40)   excision repair cross-complementing rodent repair deficiency, complementation group 3 [HGNC:ERCC3] (14)  general transcription factor IIi [HGNC:GTF2I] (11)  General transcription factor IIH complex subunits [HGNC:TFIIH] (46)   excision repair cross-complementing rodent repair deficiency, complementation group 3 [HGNC:ERCC3] (14)  Glutamate receptors [HGNC:GR] (64)   Glutamate receptors, ionotropic [HGNC:GRI] (38)   glutamate receptor, ionotropic, N-methyl D-aspartate 1 [HGNC:GRIN1] (8)  Glutathione S-transferases [HGNC:GST] (460)   Glutathione S-transferases, soluble [HGNC:SGST] (447)   glutathione S-transferase theta 1 [HGNC:GSTT1] (81)  Glycogen phosphorylases [HGNC:PYG] (29)   phosphorylase, glycogen; brain [HGNC:PYGB] (12)  Glycosyltransferase family 8 domain containing [HGNC:GLT8] (16)   glycogenin 1 [HGNC:GYG1] (7)  G patch domain containing [HGNC:GPATCH] (46)   SON DNA binding protein [HGNC:SON] (18)  Heat shock proteins [HGNC:HSP] (390)   Heat shock proteins, HSP70 [HGNC:HSP70] (294)   heat shock 105kDa/110kDa protein 01 [HGNC:HSPH1] (45)  heat shock 70kDa protein 01A [HGNC:HSPA1A] (112)  heat shock 70kDa protein 01B [HGNC:HSPA1B] (65)  heat shock 70kDa protein 08 [HGNC:HSPA8] (66)  Heat shock proteins, DNAJ (HSP40) [HGNC:DNAJ] (88)   DnaJ (Hsp40) homolog, subfamily A, member 01 [HGNC:DNAJA1] (38)  DnaJ (Hsp40) homolog, subfamily B, member 06 [HGNC:DNAJB6] (23)  Heat shock proteins, HSPB (small) [HGNC:HSPB] (127)   heat shock 27kDa protein 01 [HGNC:HSPB1] (84)  Heat shock proteins, HSPC (HSP90) [HGNC:HSP90] (119)   heat shock protein 90kDa alpha (cytosolic), class A member 1 [HGNC:HSP90AA1] (60)  Heat shock proteins, Chaperons [HGNC:CHAP] (114)   chaperonin containing TCP1, subunit 7 (eta) [HGNC:CCT7] (5)  heat shock 10kDa protein 01 (chaperonin 10) [HGNC:HSPE1] (37)  heat shock 60kDa protein 01 (chaperonin) [HGNC:HSPD1] (66)  McKusick-Kaufman syndrome [HGNC:MKKS] (5)  Histones [HGNC:HIST] (173)   Histones, Replication-independent [HGNC:RIH] (148)   H1 histone family, member 0 [HGNC:H1F0] (23)  H3 histone, family 3B (H3.3B) [HGNC:H3F3B] (13)  Histones, Replication-dependent [HGNC:HIST] (59)   histone cluster 1, H1c [HGNC:HIST1H1C] (40)  Homeoboxes [HGNC:homeobox] (219)   Homeoboxes, PRD class [HGNC:PRD] (60)   paired-like homeobox 2b [HGNC:PHOX2B] (5)  Homeoboxes, PROS class [HGNC:PROX] (17)   prospero homeobox 1 [HGNC:PROX1] (17)  Homeoboxes, TALE class [HGNC:TALE] (72)   TGFB-induced factor homeobox 1 [HGNC:TGIF1] (37)  Immunoglobulin superfamily domain containing [HGNC:IGSF] (761)   C2-set domain containing [HGNC:C2SET] (225)   vascular cell adhesion molecule 1 [HGNC:VCAM1] (172)  I-set domain containing [HGNC:ISET] (447)   leucine rich repeat neuronal 3 [HGNC:LRRN3] (8)  neural cell adhesion molecule 1 [HGNC:NCAM1] (15)  neuronal cell adhesion molecule [HGNC:NRCAM] (17)  neuroplastin [HGNC:NPTN] (6)  platelet-derived growth factor receptor, beta polypeptide [HGNC:PDGFRB] (49)  trio Rho guanine nucleotide exchange factor [HGNC:TRIO] (16)  vascular cell adhesion molecule 1 [HGNC:VCAM1] (172)  Immunoglobulin-like domain containing [HGNC:IGD] (645)   interleukin 11 receptor, alpha [HGNC:IL11RA] (6)  neuronal cell adhesion molecule [HGNC:NRCAM] (17)  neuroplastin [HGNC:NPTN] (6)  platelet-derived growth factor receptor, beta polypeptide [HGNC:PDGFRB] (49)  vascular cell adhesion molecule 1 [HGNC:VCAM1] (172)  INO80 complex subunits [HGNC:INO80] (11)   YY1 transcription factor [HGNC:YY1] (11)  Importins [HGNC:IPO] (35)   importin 07 [HGNC:IPO7] (12)  Interleukins and interleukin receptors [HGNC:IL] (1294)   interleukin 08 [HGNC:IL8] (649)  interleukin 10 receptor, beta [HGNC:IL10RB] (17)  interleukin 11 receptor, alpha [HGNC:IL11RA] (6)  Intermediate filaments [HGNC:IF] (273)   Type IV [HGNC:] (57)   neurofilament, light polypeptide [HGNC:NEFL] (22)  Type V. Lamins [HGNC:] (81)   lamin A/C [HGNC:LMNA] (35)  lamin B1 [HGNC:LMNB1] (50)  K-methyltransferases [HGNC:KMT] (101)   enhancer of zeste homolog 2 (Drosophila) [HGNC:EZH2] (32)  lysine (K)-specific methyltransferase 2B [HGNC:KMT2B] (13)  SET and MYND domain containing 3 [HGNC:SMYD3] (17)  Kelch-like [HGNC:KLHL] (73)   kelch-like family member 7 [HGNC:KLHL7] (11)  Kinesins [HGNC:KIF] (68)   kinesin family member 03C [HGNC:KIF3C] (10)  kinesin heavy chain member 2A [HGNC:KIF2A] (13)  Kruppel-like transcription factors [HGNC:KLF] (106)   Kruppel-like factor 06 [HGNC:KLF6] (56)  Kruppel-like factor 11 [HGNC:KLF11] (18)  Latent transforming growth factor, beta binding proteins [HGNC:LTBP] (24)   latent transforming growth factor beta binding protein 3 [HGNC:LTBP3] (3)  Lysophospholipid (LPA) receptors [HGNC:LPAR] (29)   lysophosphatidic acid receptor 1 [HGNC:LPAR1] (22)  MAX dimerization proteins [HGNC:MXD] (65)   MNT, MAX dimerization protein [HGNC:MNT] (15)  Metallothioneins [HGNC:MT] (183)   metallothionein 2A [HGNC:MT2A] (133)  Mitochondrial respiratory chain complex [HGNC:mitocomplex] (132)   Mitochondrial complex II: succinate dehydrogenase subunits [HGNC:comII] (30)   succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa [HGNC:SDHC] (13)  succinate dehydrogenase complex, subunit D, integral membrane protein [HGNC:SDHD] (5)  Mitochondrial respiratory chain complex assembly factors [HGNC:MITOAF] (42)   ATP synthase mitochondrial F1 complex assembly factor 1 [HGNC:ATPAF1] (6)  cytochrome c oxidase assembly homolog 15 (yeast) [HGNC:COX15] (14)  Mitochondrial ribosomal proteins [HGNC:MRP] (52)   Mitochondrial ribosomal proteins, large subunits [HGNC:MRPL] (52)   mitochondrial ribosomal protein L13 [HGNC:MRPL13] (4)  mitochondrial ribosomal protein S06 [HGNC:MRPS6] (22)  Mitogen-activated protein kinase cascade [HGNC:MAP#K] (854)   Mitogen-activated protein kinases [HGNC:MAPK] (797)   mitogen-activated protein kinase 01 [HGNC:MAPK1] (651)  mitogen-activated protein kinase 03 [HGNC:MAPK3] (644)  Mitogen-activated protein kinase kinases [HGNC:MAP2K] (157)   mitogen-activated protein kinase kinase 1 [HGNC:MAP2K1] (106)  Mitogen-activated protein kinase kinase kinases [HGNC:MAP3K] (102)   mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase [HGNC:MAP3K1] (19)  mitogen-activated protein kinase kinase kinase 4 [HGNC:MAP3K4] (11)  Myocyte enhancer factors [HGNC:MEF2] (41)   myocyte enhancer factor 2D [HGNC:MEF2D] (11)  Myosins [HGNC:myosin] (111)   Myosins, class II [HGNC:MYHII] (61)   myosin, heavy chain 09, non-muscle [HGNC:MYH9] (16)  myosin, heavy chain 10, non-muscle [HGNC:MYH10] (27)  Myosins, class IX [HGNC:MYOIX] (4)   myosin IXB [HGNC:MYO9B] (4)  Nuclear hormone receptors [HGNC:NR] (1322)   nuclear receptor subfamily 2, group F, member 1 [HGNC:NR2F1] (29)  Opsin receptors [HGNC:OPN] (45)   opiate receptor-like 1 [HGNC:OPRL1] (5)  Parkinson disease [HGNC:PARK] (136)   synuclein, alpha (non A4 component of amyloid precursor) [HGNC:SNCA] (71)  PHD-type zinc fingers [HGNC:PHF] (103)   chromodomain helicase DNA binding protein 4 [HGNC:CHD4] (7)  Fanconi anemia, complementation group L [HGNC:FANCL] (21)  Pleckstrin homology (PH) domain containing [HGNC:PLEKH] (227)   A kinase (PRKA) anchor protein 13 [HGNC:AKAP13] (18)  collagen, type IV, alpha 3 (Goodpasture antigen) binding protein [HGNC:COL4A3BP] (9)  GRB2-associated binding protein 2 [HGNC:GAB2] (12)  insulin receptor substrate 2 [HGNC:IRS2] (29)  pleckstrin homology-like domain, family B, member 1 [HGNC:PHLDB1] (5)  protein kinase D2 [HGNC:PRKD2] (9)  SH2B adaptor protein 3 [HGNC:SH2B3] (17)  T-cell lymphoma invasion and metastasis 2 [HGNC:TIAM2] (4)  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, calcium-activated [HGNC:KCA] (30)   potassium channel, subfamily T, member 01 [HGNC:KCNT1] (3)  potassium large conductance calcium-activated channel, subfamily M, alpha member 1 [HGNC:KCNMA1] (19)  Potassium channels, inwardly rectifying [HGNC:KCNJ] (65)   potassium inwardly-rectifying channel, subfamily J, member 08 [HGNC:KCNJ8] (15)  Potassium channels, voltage-gated [HGNC:Kv] (224)   potassium voltage-gated channel, KQT-like subfamily, member 2 [HGNC:KCNQ2] (14)  PRAME family [HGNC:PRAME] (7)   preferentially expressed antigen in melanoma [HGNC:PRAME] (7)  Proteasome (prosome, macropain) subunits [HGNC:PSM] (98)   proteasome (prosome, macropain) activator subunit 4 [HGNC:PSME4] (19)  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)  axin 1 [HGNC:AXIN1] (9)  chloride channel, voltage-sensitive 7 [HGNC:CLCN7] (8)  coiled-coil-helix-coiled-coil-helix domain containing 3 [HGNC:CHCHD3] (6)  Protein phosphatase 2, regulatory subunits [HGNC:PPP2R] (69)   protein phosphatase 2, regulatory subunit B, alpha [HGNC:PPP2R2A] (14)  protein phosphatase 2, regulatory subunit B, gamma [HGNC:PPP2R2C] (9)  Protein phosphatase 3, regulatory subunits [HGNC:PPP3R] (10)   protein phosphatase 3, regulatory subunit B, alpha [HGNC:PPP3R1] (10)  Protein phosphatases, Mg2+/Mn2+ dependent [HGNC:PPM] (58)   protein phosphatase, Mg2+/Mn2+ dependent, 1B [HGNC:PPM1B] (14)  protein phosphatase, Mg2+/Mn2+ dependent, 1D [HGNC:PPM1D] (34)  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 : Atypical dual specificity phosphatases [HGNC:DUSPA] (26)   dual specificity phosphatase 03 [HGNC:DUSP3] (10)  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 06 [HGNC:DUSP6] (50)  Proteoglycans [HGNC:proteoglycan] (70)   Proteoglycans, extracellular matrix: small leucine-rich repeats [HGNC:SLRR] (37)   decorin [HGNC:DCN] (27)  Pseudoautosomal regions [HGNC:PAR] (30)   Pseudoautosomal region 1 [HGNC:PAR1] (25)   colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) [HGNC:CSF2RA] (9)  Purinergic receptors [HGNC:P2R] (49)   Purinergic receptors, P2Y [HGNC:P2RY] (25)   purinergic receptor P2Y, G-protein coupled, 11 [HGNC:P2RY11] (8)  RAB, member RAS oncogene [HGNC:RAB] (69)   RAB23, member RAS oncogene family [HGNC:RAB23] (13)  Regulators of G-protein signaling [HGNC:RGS] (98)   regulator of G-protein signaling 04 [HGNC:RGS4] (30)  regulator of G-protein signaling 12 [HGNC:RGS12] (8)  Rho guanine nucleotide exchange factors [HGNC:ARHGEF] (105)   A kinase (PRKA) anchor protein 13 [HGNC:AKAP13] (18)  Rho guanine nucleotide exchange factor (GEF) 10 [HGNC:ARHGEF10] (7)  T-cell lymphoma invasion and metastasis 2 [HGNC:TIAM2] (4)  trio Rho guanine nucleotide exchange factor [HGNC:TRIO] (16)  RNA binding motif containing [HGNC:RRM] (251)   cold inducible RNA binding protein [HGNC:CIRBP] (18)  eukaryotic translation initiation factor 3, subunit B [HGNC:EIF3B] (16)  EWS RNA-binding protein 1 [HGNC:EWSR1] (14)  insulin-like growth factor 2 mRNA binding protein 3 [HGNC:IGF2BP3] (16)  polypyrimidine tract binding protein 1 [HGNC:PTBP1] (13)  poly-U binding splicing factor 60KDa [HGNC:PUF60] (4)  serine/arginine-rich splicing factor 05 [HGNC:SRSF5] (22)  serine/arginine-rich splicing factor 10 [HGNC:SRSF10] (12)  RNA polymerase subunits [HGNC:POLR] (21)   polymerase (RNA) I polypeptide D, 16kDa [HGNC:POLR1D] (7)  RING-type zinc fingers [HGNC:RNF] (151)   checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase [HGNC:CHFR] (11)  helicase-like transcription factor [HGNC:HLTF] (13)  tripartite motif containing 02 [HGNC:TRIM2] (22)  tripartite motif containing 32 [HGNC:TRIM32] (5)  Sodium channels [HGNC:SC] (95)   Sodium channels, voltage-gated [HGNC:SCN] (71)   sodium channel, voltage-gated, type II, alpha subunit [HGNC:SCN2A] (9)  Serine/arginine-rich splicing factors [HGNC:SRSF] (62)   serine/arginine-rich splicing factor 05 [HGNC:SRSF5] (22)  serine/arginine-rich splicing factor 10 [HGNC:SRSF10] (12)  Serine peptidases [HGNC:PRSS] (133)   Serine peptidases, serine peptidases [HGNC:TMPRSS] (86)   protease, serine, 03 [HGNC:PRSS3] (11)  SH2 domain containing [HGNC:SH2D] (431)   FYN oncogene related to SRC, FGR, YES [HGNC:FYN] (47)  NCK adaptor protein 1 [HGNC:NCK1] (17)  SH2B adaptor protein 3 [HGNC:SH2B3] (17)  signal transducer and activator of transcription 3 (acute-phase response factor) [HGNC:STAT3] (145)  v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog [HGNC:SRC] (88)  Short chain dehydrogenase/reductase superfamily [HGNC:SDR] (302)   Short chain dehydrogenase/reductase superfamily, Classical fold cluster 1 [HGNC:SDRC1] (60)   2,4-dienoyl CoA reductase 1, mitochondrial [HGNC:DECR1] (7)  dicarbonyl/L-xylulose reductase [HGNC:DCXR] (13)  Short chain dehydrogenase/reductase superfamily, Classical fold cluster 3 [HGNC:SDRC3] (75)   hydroxysteroid (17-beta) dehydrogenase 04 [HGNC:HSD17B4] (31)  Sialyltransferases [HGNC:ST3G] (32)   ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 [HGNC:ST8SIA2] (6)  Solute carriers [HGNC:SLC] (716)   solute carrier family 06 (neurotransmitter transporter), member 08 [HGNC:SLC6A8] (21)  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 09, subfamily A (NHE1, cation proton antiporter 1), member 1 [HGNC:SLC9A1] (31)  solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 [HGNC:SLC11A2] (41)  solute carrier family 18 (vesicular monoamine transporter), member 1 [HGNC:SLC18A1] (10)  solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 [HGNC:SLC25A15] (13)  solute carrier family 35 (CMP-sialic acid transporter), member A1 [HGNC:SLC35A1] (6)  solute carrier family 35, member G2 [HGNC:SLC35G2] (13)  solute carrier family 39 (zinc transporter), member 10 [HGNC:SLC39A10] (20)  solute carrier family 39 (zinc transporter), member 14 [HGNC:SLC39A14] (24)  uncoupling protein 2 (mitochondrial, proton carrier) [HGNC:UCP2] (30)  Sorting nexins [HGNC:SNX] (12)   sorting nexin 05 [HGNC:SNX5] (9)  SRY (sex determining region Y)-boxes [HGNC:SOX] (95)   SRY (sex determining region Y)-box 04 [HGNC:SOX4] (39)  SRY (sex determining region Y)-box 11 [HGNC:SOX11] (6)  StAR-related lipid transfer (START) domain containing [HGNC:STARD] (91)   collagen, type IV, alpha 3 (Goodpasture antigen) binding protein [HGNC:COL4A3BP] (9)  Sterile alpha motif (SAM) containing [HGNC:SAMD] (92)   ankyrin repeat and sterile alpha motif domain containing 1A [HGNC:ANKS1A] (6)  PTPRF interacting protein, binding protein 1 (liprin beta 1) [HGNC:PPFIBP1] (16)  Sulfotransferases, cytosolic [HGNC:SULT] (167)   sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 [HGNC:SULT1A1] (105)  Sulfotransferases, membrane-bound [HGNC:SULTM] (37)   carbohydrate (chondroitin 6) sulfotransferase 3 [HGNC:CHST3] (13)  Synaptotagmins [HGNC:SYT] (5)   synaptotagmin IV [HGNC:SYT4] (2)  Tetraspanins [HGNC:TSPAN] (43)   tetraspanin 07 [HGNC:TSPAN7] (17)  tetraspanin 18 [HGNC:TSPAN18] (7)  Tetratricopeptide repeat domain containing [HGNC:TTC] (153)   G-protein signaling modulator 1 [HGNC:GPSM1] (8)  peroxisomal biogenesis factor 05 [HGNC:PEX5] (4)  Tripartite motif containing [HGNC:TRIM] (80)   tripartite motif containing 02 [HGNC:TRIM2] (22)  tripartite motif containing 32 [HGNC:TRIM32] (5)  Tropomyosins [HGNC:TPM] (66)   tropomyosin 3 [HGNC:TPM3] (19)  tropomyosin 4 [HGNC:TPM4] (23)  Tubulins [HGNC:TUB] (87)   tubulin, alpha 1a [HGNC:TUBA1A] (28)  Tudor domain containing [HGNC:TDRD] (64)   tudor domain containing 7 [HGNC:TDRD7] (10)  Tumor necrosis factor receptor superfamily [HGNC:TNFRSF] (295)   tumor necrosis factor receptor superfamily, member 01A [HGNC:TNFRSF1A] (72)  tumor necrosis factor receptor superfamily, member 19 [HGNC:TNFRSF19] (19)  Ubiquitin-conjugating enzymes E2 [HGNC:UBE2] (97)   ubiquitin-conjugating enzyme E2C [HGNC:UBE2C] (50)  ubiquitin-conjugating enzyme E2H [HGNC:UBE2H] (17)  UBX domain containing [HGNC:UBXN] (16)   alveolar soft part sarcoma chromosome region, candidate 1 [HGNC:ASPSCR1] (6)  Voltage-gated ion channels [HGNC:VGIC] (79)   Sodium channels, voltage-gated [HGNC:SCN] (71)   sodium channel, voltage-gated, type II, alpha subunit [HGNC:SCN2A] (9)  WD repeat domain containing [HGNC:WDR] (199)   autophagy related 16-like 1 (S. cerevisiae) [HGNC:ATG16L1] (4)  bromodomain and WD repeat domain containing 1 [HGNC:BRWD1] (7)  DDB1 and CUL4 associated factor 07 [HGNC:DCAF7] (9)  denticleless E3 ubiquitin protein ligase homolog (Drosophila) [HGNC:DTL] (23)  lethal giant larvae homolog 1 (Drosophila) [HGNC:LLGL1] (2)  protein phosphatase 2, regulatory subunit B, alpha [HGNC:PPP2R2A] (14)  protein phosphatase 2, regulatory subunit B, gamma [HGNC:PPP2R2C] (9)  WD repeat domain 01 [HGNC:WDR1] (12)  WD repeat domain 12 [HGNC:WDR12] (10)  WD repeat domain 45 [HGNC:WDR45] (9)  ZINC FINGERS [HGNC:ZNF] (383)   Zinc fingers, C2H2-type [HGNC:ZNF] (349)   B-cell CLL/lymphoma 11A (zinc finger protein) [HGNC:BCL11A] (14)  early growth response 1 [HGNC:EGR1] (140)  Kruppel-like factor 06 [HGNC:KLF6] (56)  Kruppel-like factor 11 [HGNC:KLF11] (18)  YY1 transcription factor [HGNC:YY1] (11)  Zinc fingers, C2H2-type with KRAB domain [HGNC:ZKRAB] (42)   zinc finger protein 559 [HGNC:ZNF559] (11)  Other zinc fingers [HGNC:] (148)   Zinc fingers, FYVE-type [HGNC:ZFYVE ] (31)   RUN and FYVE domain containing 3 [HGNC:RUFY3] (11)  zinc finger, FYVE domain containing 26 [HGNC:ZFYVE26] (4)  Zinc fingers, MIZ-type [HGNC:ZMIZ ] (33)   protein inhibitor of activated STAT, 1 [HGNC:PIAS1] (22)  Zinc fingers, MYM-type [HGNC:ZMYM ] (64)   DEAF1 transcription factor [HGNC:DEAF1] (12)  SET and MYND domain containing 3 [HGNC:SMYD3] (17) 2. Interaction: Human Genes and Chemicals  2. Interaction: Human Genes and Chemicals  Affects (3990)   expression (494)  Decreases (5154)   reaction (3393)  Increases (5571)   phosphorylation (1060)  reaction (1574) A. Anatomy  A. Anatomy  Body Regions [MESH:D001829] (867)   Extremities [MESH:D005121] (484)   Lower Extremity [MESH:D035002] (139)   Foot [MESH:D005528] (125)   Forefoot, Human [MESH:D005545] (118)   Toes [MESH:D014034] (115)   Syndactyly, Type IV [MESH:C566092] (13)  Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations [MESH:C567475] (12)  Upper Extremity [MESH:D034941] (441)   Hand [MESH:D006225] (428)   Fingers [MESH:D005385] (422)   Syndactyly, Type IV [MESH:C566092] (13)  Head [MESH:D006257] (523)   Ear [MESH:D004423] (236)   Meier-Gorlin syndrome [MESH:C538012] (133)  Face [MESH:D005145] (387)   Eye [MESH:D005123] (148)   Eyelids [MESH:D005143] (143)   Oculodigitoesophagoduodenal syndrome [MESH:C537734] (58)  Musculoskeletal System [MESH:D009141] (1255)   Muscles [MESH:D009132] (97)   Muscle, Skeletal [MESH:D018482] (86)   Abdominal Muscles [MESH:D000009] (49)   Carnevale syndrome [MESH:C535586] (45)  Skeleton [MESH:D012863] (1177)   Bone and Bones [MESH:D001842] (1112)   Bones of Lower Extremity [MESH:D050281] (278)   Leg Bones [MESH:D007867] (228)   Patella [MESH:D010329] (168)   Meier-Gorlin syndrome [MESH:C538012] (133)  Skull [MESH:D012886] (610)   Van Buchem disease type 2 [MESH:C536527] (30)  Facial Bones [MESH:D005147] (539)   Jaw [MESH:D007568] (524)   Mandible [MESH:D008334] (511)   Mandibuloacral dysplasia with type A lipodystrophy [MESH:C535705] (490)  Van Buchem disease type 2 [MESH:C536527] (30)  Spine [MESH:D013131] (258)   VACTERL hydrocephaly [MESH:C536521] (151)  Thorax [MESH:D013909] (62)   Ribs [MESH:D012272] (50)   Cerebral Cavernous Malformations 3 [MESH:C566393] (27)  Digestive System [MESH:D004064] (421)   Gastrointestinal Tract [MESH:D041981] (364)   Intestines [MESH:D007422] (271)   Intestine, Large [MESH:D007420] (247)   Anal Canal [MESH:D001003] (217)   VACTERL hydrocephaly [MESH:C536521] (151)  Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations [MESH:C567475] (12)  Lower Gastrointestinal Tract [MESH:D041741] (254)   Intestine, Large [MESH:D007420] (247)   Anal Canal [MESH:D001003] (217)   VACTERL hydrocephaly [MESH:C536521] (151)  Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations [MESH:C567475] (12)  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)   Urinary Tract [MESH:D014551] (721)   Kidney [MESH:D007668] (707)   VACTERL hydrocephaly [MESH:C536521] (151)  Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations [MESH:C567475] (12)  Cardiovascular System [MESH:D002319] (1086)   Blood Vessels [MESH:D001808] (278)   Arteries [MESH:D001158] (173)   Retinal Artery [MESH:D012161] (78)   Brain Small Vessel Disease with Hemorrhage [MESH:C564372] (77)  Retinal Vessels [MESH:D012171] (112)   Exudative Vitreoretinopathy 4 [MESH:C566619] (30)  Retinal Artery [MESH:D012161] (78)   Brain Small Vessel Disease with Hemorrhage [MESH:C564372] (77)  Heart [MESH:D006321] (904)   Heart Valves [MESH:D006351] (666)   Aortic Valve [MESH:D001021] (659)   Aortic Valve, Calcification of [MESH:C562942] (655)  Sense Organs [MESH:D012679] (1060)   Ear [MESH:D004423] (323)   Meier-Gorlin syndrome [MESH:C538012] (133)  Eye [MESH:D005123] (858)   Anterior Eye Segment [MESH:D000869] (664)   Iris [MESH:D007498] (234)   Aortic Aneurysm, Familial Thoracic 6 [MESH:C567085] (221)  Eyelids [MESH:D005143] (146)   Oculodigitoesophagoduodenal syndrome [MESH:C537734] (58)  Posterior Eye Segment [MESH:D057972] (48)   Vitreous Body [MESH:D014822] (47)   Exudative Vitreoretinopathy 4 [MESH:C566619] (30)  Retina [MESH:D012160] (85)   Joubert syndrome 1 [MESH:C536293] (20)  Uvea [MESH:D014602] (270)   Iris [MESH:D007498] (234)   Aortic Aneurysm, Familial Thoracic 6 [MESH:C567085] (221)  Cells [MESH:D002477] (1885)   Cellular Structures [MESH:D022082] (1562)   Chromosomes [MESH:D002875] (1300)   Chromosomes, Mammalian [MESH:D033481] (1282)   Chromosomes, Human [MESH:D002877] (1280)   Chromosomes, Human, 21-22 and Y [MESH:D002904] (294)   Chromosomes, Human, Pair 21 [MESH:D002891] (58)   Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)  Stomatognathic System [MESH:D013284] (673)   Jaw [MESH:D007568] (528)   Mandible [MESH:D008334] (511)   Mandibuloacral dysplasia with type A lipodystrophy [MESH:C535705] (490)  Van Buchem disease type 2 [MESH:C536527] (30) 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)  Mycoplasmatales Infections [MESH:D009180] (1949)   Mycoplasma Infections [MESH:D009175] (1947)  Infection [MESH:D007239] (4109)   Intraabdominal Infections [MESH:D059413] (958)   Peritonitis [MESH:D010538] (800)  Sepsis [MESH:D018805] (3556)   Bacteremia [MESH:D016470] (1369)   Endotoxemia [MESH:D019446] (1289)  Toxemia [MESH:D014115] (1290)   Endotoxemia [MESH:D019446] (1289) C02. Virus Diseases  C02. Virus Diseases  Virus Diseases [MESH:D014777] (4544)   DNA Virus Infections [MESH:D004266] (2474)   Hepadnaviridae Infections [MESH:D018347] (977)   Hepatitis B [MESH:D006509] (976)  Herpesviridae Infections [MESH:D006566] (1944)   Epstein-Barr Virus Infections [MESH:D020031] (695)   Burkitt Lymphoma [MESH:D002051] (691)  Hepatitis, Viral, Human [MESH:D006525] (1766)   Hepatitis B [MESH:D006509] (976)  RNA Virus Infections [MESH:D012327] (4215)   Arenaviridae Infections [MESH:D001117] (204)   Lassa Fever [MESH:D007835] (38)  Hemorrhagic Fevers, Viral [MESH:D006482] (102)   Lassa Fever [MESH:D007835] (38)  Orthomyxoviridae Infections [MESH:D009976] (1077)   Influenza, Human [MESH:D007251] (1075)  Retroviridae Infections [MESH:D012192] (3420)   Lentivirus Infections [MESH:D016180] (3408)   HIV Infections [MESH:D015658] (3402)   HIV-Associated Lipodystrophy Syndrome [MESH:D039682] (91)  Sexually Transmitted Diseases [MESH:D012749] (3305)   Sexually Transmitted Diseases, Viral [MESH:D015229] (3304)   HIV Infections [MESH:D015658] (3296)   HIV-Associated Lipodystrophy Syndrome [MESH:D039682] (91)  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)   Protozoan Infections [MESH:D011528] (3014)   Euglenozoa Infections [MESH:D056986] (2552)   Leishmaniasis [MESH:D007896] (2541)   Leishmaniasis, Cutaneous [MESH:D016773] (2359)  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)   Ovarian Cysts [MESH:D010048] (2534)   Polycystic Ovary Syndrome [MESH:D011085] (2186)  Hamartoma [MESH:D006222] (1484)   Hamartoma Syndrome, Multiple [MESH:D006223] (262)   Cowden-Like Syndrome [MESH:C567337] (52)  Proteus Syndrome [MESH:D016715] (152)  Neoplasms by Histologic Type [MESH:D009370] (8793)   Leukemia [MESH:D007938] (4576)   Leukemia, Lymphoid [MESH:D007945] (3047)   Leukemia, B-Cell [MESH:D015448] (2564)   Leukemia, Lymphocytic, Chronic, B-Cell [MESH:D015451] (2562)  Leukemia, T-Cell [MESH:D015458] (395)   Leukemia-Lymphoma, Adult T-Cell [MESH:D015459] (138)  Precursor Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054198] (1754)   Precursor B-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D015452] (354)  Leukemia, Myeloid [MESH:D007951] (2773)   Leukemia, Myelogenous, Chronic, BCR-ABL Positive [MESH:D015464] (1032)  Leukemia, Myelomonocytic, Juvenile [MESH:D054429] (344)  Leukemia, Myeloid, Acute [MESH:D015470] (2176)   Leukemia, Megakaryoblastic, Acute [MESH:D007947] (279)  Leukemia, Promyelocytic, Acute [MESH:D015473] (1367)  Lymphoma [MESH:D008223] (3686)   Hodgkin Disease [MESH:D006689] (1082)  Lymphoma, Non-Hodgkin [MESH:D008228] (3337)   Burkitt Lymphoma [MESH:D002051] (691)  Lymphoma, Follicular [MESH:D008224] (1025)  Lymphoma, Large-Cell, Anaplastic [MESH:D017728] (420)  Lymphoma, Mantle-Cell [MESH:D020522] (561)  Lymphoma, B-Cell [MESH:D016393] (2624)   Burkitt Lymphoma [MESH:D002051] (691)  Lymphoma, Large B-Cell, Diffuse [MESH:D016403] (2012)  Lymphoma, T-Cell [MESH:D016399] (1405)   Lymphoma, Large-Cell, Anaplastic [MESH:D017728] (420)  Lymphoma, T-Cell, Cutaneous [MESH:D016410] (912)  Neoplasms, Complex and Mixed [MESH:D018193] (1121)   Wilms Tumor [MESH:D009396] (553)  Neoplasms, Connective and Soft Tissue [MESH:D018204] (4742)   Neoplasms, Adipose Tissue [MESH:D018205] (677)   Lipoma [MESH:D008067] (159)  Neoplasms, Connective Tissue [MESH:D009372] (3626)   Chondroma [MESH:D002812] (155)  Gastrointestinal Stromal Tumors [MESH:D046152] (170)   Carney-Stratakis Syndrome [MESH:C564650] (65)  Neoplasms, Bone Tissue [MESH:D018213] (2217)   Osteosarcoma [MESH:D012516] (2175)   Sarcoma, Ewing [MESH:D012512] (79)  Neoplasms, Muscle Tissue [MESH:D009379] (1965)   Sarcoma, Alveolar Soft Part [MESH:D018234] (17)  Sarcoma [MESH:D012509] (4246)   Hemangiosarcoma [MESH:D006394] (1836)  Sarcoma, Alveolar Soft Part [MESH:D018234] (17)  Osteosarcoma [MESH:D012516] (2175)   Sarcoma, Ewing [MESH:D012512] (79)  Neoplasms, Germ Cell and Embryonal [MESH:D009373] (5126)   Neuroectodermal Tumors [MESH:D017599] (5066)   Neoplasms, Neuroepithelial [MESH:D018302] (4487)   Retinoblastoma [MESH:D012175] (319)  Glioma [MESH:D005910] (4261)   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)   Carcinoid Tumor [MESH:D002276] (42)   Carcinoid Tumors, Intestinal [MESH:C562842] (28)  Melanoma [MESH:D008545] (3508)   Uveal melanoma [MESH:C536494] (109)  Paraganglioma [MESH:D010235] (297)   Carney-Stratakis Syndrome [MESH:C564650] (65)  Pheochromocytoma [MESH:D010673] (275)  Neoplasms, Glandular and Epithelial [MESH:D009375] (7760)   Adenoma [MESH:D000236] (4051)   Mesothelioma [MESH:D008654] (2567)  Adenomatous Polyps [MESH:D018256] (1571)   Adenomatous Polyposis Coli [MESH:D011125] (1565)   Colorectal Adenomatous Polyposis, Autosomal Recessive [MESH:C563924] (28)  Carcinoma [MESH:D002277] (7263)   Thyroid cancer, papillary [MESH:C536915] (111)  Carcinoma, Lewis Lung [MESH:D018827] (248)  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)  Carcinoma, Adenoid Cystic [MESH:D003528] (1561)  Carcinoma, Hepatocellular [MESH:D006528] (5375)  Carcinoma, Renal Cell [MESH:D002292] (2975)  Adenocarcinoma, Follicular [MESH:D018263] (677)   Thyroid cancer, follicular [MESH:C572845] (674)  Carcinoid Tumor [MESH:D002276] (42)   Carcinoid Tumors, Intestinal [MESH:C562842] (28)  Carcinoma, Ductal [MESH:D044584] (1786)   Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)  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)   Pilomatrixoma [MESH:D018296] (252)  Neoplasms, Ductal, Lobular, and Medullary [MESH:D018299] (1831)   Carcinoma, Ductal [MESH:D044584] (1786)   Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)  Neoplasms, Mesothelial [MESH:D018301] (2569)   Mesothelioma [MESH:D008654] (2567)  Neoplasms, Neuroepithelial [MESH:D018302] (4487)   Retinoblastoma [MESH:D012175] (319)  Glioma [MESH:D005910] (4261)   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, Nerve Tissue [MESH:D009380] (5201)   Meningioma [MESH:D008579] (978)   Meningioma, familial [MESH:C537443] (195)  Neuroectodermal Tumors [MESH:D017599] (5059)   Neoplasms, Neuroepithelial [MESH:D018302] (4487)   Retinoblastoma [MESH:D012175] (319)  Glioma [MESH:D005910] (4261)   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)   Carcinoid Tumor [MESH:D002276] (42)   Carcinoid Tumors, Intestinal [MESH:C562842] (28)  Melanoma [MESH:D008545] (3508)   Uveal melanoma [MESH:C536494] (109)  Paraganglioma [MESH:D010235] (297)   Carney-Stratakis Syndrome [MESH:C564650] (65)  Pheochromocytoma [MESH:D010673] (275)  Neoplasms, Plasma Cell [MESH:D054219] (2772)   Multiple Myeloma [MESH:D009101] (2767)  Neoplasms, Vascular Tissue [MESH:D009383] (2959)   Hemangiosarcoma [MESH:D006394] (1836)  Hemangioma [MESH:D006391] (690)   Sturge-Weber Syndrome [MESH:D013341] (76)  Hemangioma, Cavernous [MESH:D006392] (38)   Hemangioma, Cavernous, Central Nervous System [MESH:D020786] (35)  Meningioma [MESH:D008579] (978)   Meningioma, familial [MESH:C537443] (195)  Nevi and Melanomas [MESH:D018326] (3572)   Nevus [MESH:D009506] (340)  Melanoma [MESH:D008545] (3508)   Uveal melanoma [MESH:C536494] (109)  Neoplasms by Site [MESH:D009371] (9169)   Skin Neoplasms [MESH:D012878] (2992)  Breast Neoplasms [MESH:D001943] (6077)   Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)  Digestive System Neoplasms [MESH:D004067] (7487)   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)   Carcinoid Tumors, Intestinal [MESH:C562842] (28)  Colorectal Neoplasms [MESH:D015179] (5294)   Rectal Neoplasms [MESH:D012004] (717)  Adenomatous Polyposis Coli [MESH:D011125] (1565)   Colorectal Adenomatous Polyposis, Autosomal Recessive [MESH:C563924] (28)  Colonic Neoplasms [MESH:D003110] (4405)   Adenomatous Polyposis Coli [MESH:D011125] (1565)   Colorectal Adenomatous Polyposis, Autosomal Recessive [MESH:C563924] (28)  Liver Neoplasms [MESH:D008113] (6048)   Carcinoma, Hepatocellular [MESH:D006528] (5375)  Liver Neoplasms, Experimental [MESH:D008114] (2837)  Pancreatic Neoplasms [MESH:D010190] (3820)   Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)  Endocrine Gland Neoplasms [MESH:D004701] (4925)   Ovarian Neoplasms [MESH:D010051] (3275)   Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)  Pancreatic Neoplasms [MESH:D010190] (3820)   Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)  Thyroid Neoplasms [MESH:D013964] (2040)   Thyroid cancer, papillary [MESH:C536915] (111)  Eye Neoplasms [MESH:D005134] (400)   Retinal Neoplasms [MESH:D019572] (320)   Retinoblastoma [MESH:D012175] (319)  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)  Thyroid Neoplasms [MESH:D013964] (2040)   Thyroid cancer, papillary [MESH:C536915] (111)  Mammary Neoplasms, Animal [MESH:D015674] (3404)   Mammary Neoplasms, Experimental [MESH:D008325] (3268)  Nervous System Neoplasms [MESH:D009423] (3130)   Central Nervous System Neoplasms [MESH:D016543] (3055)   Brain Neoplasms [MESH:D001932] (2764)  Meningeal Neoplasms [MESH:D008577] (984)   Meningioma [MESH:D008579] (978)   Meningioma, familial [MESH:C537443] (195)  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)  Urogenital Neoplasms [MESH:D014565] (7002)   Genital Neoplasms, Female [MESH:D005833] (2540)   Uterine Neoplasms [MESH:D014594] (2431)   Endometrial Neoplasms [MESH:D016889] (1987)  Genital Neoplasms, Male [MESH:D005834] (6224)   Prostatic Neoplasms [MESH:D011471] (6135)   Prostate Cancer, Hereditary, 12 [MESH:C567510] (26)  Urologic Neoplasms [MESH:D014571] (5315)   Urinary Bladder Neoplasms [MESH:D001749] (4079)  Kidney Neoplasms [MESH:D007680] (3966)   Carcinoma, Renal Cell [MESH:D002292] (2975)  Wilms Tumor [MESH:D009396] (553)  Neoplasms, Experimental [MESH:D009374] (5218)   Carcinoma, Lewis Lung [MESH:D018827] (248)  Liver Neoplasms, Experimental [MESH:D008114] (2837)  Mammary Neoplasms, Experimental [MESH:D008325] (3268)  Tumor Virus Infections [MESH:D014412] (697)   Epstein-Barr Virus Infections [MESH:D020031] (693)   Burkitt Lymphoma [MESH:D002051] (691)  Neoplasms, Multiple Primary [MESH:D009378] (961)   Hamartoma Syndrome, Multiple [MESH:D006223] (262)   Cowden-Like Syndrome [MESH:C567337] (52)  Proteus Syndrome [MESH:D016715] (152)  Neoplastic Processes [MESH:D009385] (5317)   Neoplasm Invasiveness [MESH:D009361] (3388)  Neoplasm Recurrence, Local [MESH:D009364] (1949)  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)   Meningioma, familial [MESH:C537443] (195)  Juvenile polyposis syndrome [MESH:C537702] (196)  Prostate Cancer, Hereditary, 12 [MESH:C567510] (26)  Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)  Wilms Tumor [MESH:D009396] (553)  Adenomatous Polyposis Coli [MESH:D011125] (1565)   Colorectal Adenomatous Polyposis, Autosomal Recessive [MESH:C563924] (28)  Hamartoma Syndrome, Multiple [MESH:D006223] (260)   Cowden-Like Syndrome [MESH:C567337] (52)  Precancerous Conditions [MESH:D011230] (2858)   Xeroderma Pigmentosum [MESH:D014983] (213)   Xeroderma Pigmentosum, Complementation Group B [MESH:C562590] (31)  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 Diseases, Developmental [MESH:D001848] (3315)   Acromicric dysplasia [MESH:C535662] (520)  Proteus Syndrome [MESH:D016715] (152)  Acro-Osteolysis [MESH:D030981] (548)   Mandibuloacral dysplasia with type A lipodystrophy [MESH:C535705] (490)  Dwarfism [MESH:D004392] (778)   Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type [MESH:C564794] (29)  Achondroplasia [MESH:D000130] (196)   Achondrogenesis type 1A [MESH:C536015] (16)  Dysostoses [MESH:D004413] (1019)   Craniofacial Dysostosis [MESH:D003394] (391)   Mandibulofacial Dysostosis [MESH:D008342] (63)  Hypertelorism [MESH:D006972] (109)   Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations [MESH:C567475] (12)  Synostosis [MESH:D013580] (817)   Craniosynostoses [MESH:D003398] (438)   Bohring syndrome [MESH:C537419] (26)  Oculopalatoskeletal syndrome [MESH:C537738] (45)  Acrocephalosyndactylia [MESH:D000168] (201)   Acrocephalopolysyndactyly Type II [MESH:C563187] (27)  Syndactyly [MESH:D013576] (487)   Syndactyly, Type IV [MESH:C566092] (13)  Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations [MESH:C567475] (12)  Acrocephalosyndactylia [MESH:D000168] (201)   Acrocephalopolysyndactyly Type II [MESH:C563187] (27)  Osteochondrodysplasias [MESH:D010009] (2440)   Van Buchem disease type 2 [MESH:C536527] (30)  Schimke immunoosseous dysplasia [MESH:C536629] (16)  Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type [MESH:C564794] (29)  Enchondromatosis [MESH:D004687] (170)  Achondroplasia [MESH:D000130] (196)   Achondrogenesis type 1A [MESH:C536015] (16)  Chondrodysplasia Punctata [MESH:D002806] (108)   Chondrodysplasia Punctata, Rhizomelic [MESH:D018902] (53)   Rhizomelic chondrodysplasia punctata, type 3 [MESH:C537608] (26)  Osteogenesis Imperfecta [MESH:D010013] (481)   Osteogenesis imperfecta, type 7 [MESH:C536048] (21)  Osteogenesis imperfecta, type VIII [MESH:C536049] (17)  Osteoporosis-pseudoglioma syndrome [MESH:C536063] (31)  Osteosclerosis [MESH:D010026] (356)   Osteopetrosis [MESH:D010022] (318)   Osteopetrosis autosomal dominant type 1 [MESH:C536056] (30)  Bone Diseases, Metabolic [MESH:D001851] (3492)   Mucolipidoses [MESH:D009081] (78)   Neuraminidase 1 deficiency [MESH:C537366] (31)  Mucolipidosis III Gamma [MESH:C565367] (13)  Osteoporosis [MESH:D010024] (3037)   Osteoporosis, Postmenopausal [MESH:D015663] (2351)  Bone Resorption [MESH:D001862] (2352)   Osteolysis [MESH:D010014] (1787)   Acro-Osteolysis [MESH:D030981] (548)   Mandibuloacral dysplasia with type A lipodystrophy [MESH:C535705] (490)  Spinal Diseases [MESH:D013122] (2485)   Spinal Curvatures [MESH:D013121] (742)   Kyphosis [MESH:D007738] (637)  Foot Deformities [MESH:D005530] (553)   Foot Deformities, Congenital [MESH:D005532] (538)   Acheiropodia [MESH:C536014] (13)  Hand Deformities [MESH:D006226] (590)   Hand Deformities, Congenital [MESH:D006228] (587)   Heart-hand syndrome, Slovenian type [MESH:C535852] (77)  Acheiropodia [MESH:C536014] (13)  Jaw Diseases [MESH:D007571] (1601)   Jaw Abnormalities [MESH:D007569] (1435)   Cleft Palate [MESH:D002972] (1330)  Micrognathism [MESH:D008844] (230)   Meier-Gorlin syndrome [MESH:C538012] (133)  Cerebral Cavernous Malformations 3 [MESH:C566393] (27)  Joint Diseases [MESH:D007592] (4657)   Arthritis [MESH:D001168] (4416)   Arthritis, Experimental [MESH:D001169] (3142)  Arthritis, Rheumatoid [MESH:D001172] (3603)  Osteoarthritis [MESH:D010003] (1743)  Arthrogryposis [MESH:D001176] (329)   Lethal congenital contracture syndrome 1 [MESH:C537194] (14)  Lethal Arthrogryposis With Anterior Horn Cell Disease [MESH:C567502] (14)  Contracture [MESH:D003286] (296)   Tight skin contracture syndrome, lethal [MESH:C536920] (84)  Lethal Congenital Contractural Syndrome 3 [MESH:C566961] (10)  Muscular Diseases [MESH:D009135] (4071)   Muscle Weakness [MESH:D018908] (478)  Arthrogryposis [MESH:D001176] (329)   Lethal congenital contracture syndrome 1 [MESH:C537194] (14)  Lethal Arthrogryposis With Anterior Horn Cell Disease [MESH:C567502] (14)  Contracture [MESH:D003286] (303)   Tight skin contracture syndrome, lethal [MESH:C536920] (84)  Lethal Congenital Contractural Syndrome 3 [MESH:C566961] (10)  Mitochondrial Myopathies [MESH:D017240] (2176)   Mitochondrial Encephalomyopathies [MESH:D017237] (1121)   MELAS Syndrome [MESH:D017241] (1061)   Myopathy with lactic acidosis and sideroblastic anemia [MESH:C536101] (35)  Muscle Cramp [MESH:D009120] (135)   Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps [MESH:C567088] (77)  Muscle Rigidity [MESH:D009127] (617)   Hyperexplexia hereditary [MESH:C538136] (80)  Muscular Disorders, Atrophic [MESH:D020966] (1598)   Muscular Dystrophies [MESH:D009136] (1593)   Muscular Dystrophy, Congenital, Lmna-Related [MESH:C567708] (77)  Muscular Dystrophy, Emery-Dreifuss [MESH:D020389] (169)  Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854)  Distal Myopathies [MESH:D049310] (178)   Distal myopathy, Nonaka type [MESH:C536816] (40)  Muscular Dystrophies, Limb-Girdle [MESH:D049288] (259)   Limb-girdle muscular dystrophy type 2H [MESH:C535897] (15)  Limb-girdle muscular dystrophy, type 1B [MESH:C535898] (77)  Myopathies, Structural, Congenital [MESH:D020914] (272)   Myopathies, Nemaline [MESH:D017696] (173)   Nemaline myopathy 1 [MESH:C538348] (69)  Myositis [MESH:D009220] (2071)   Myositis, Inclusion Body [MESH:D018979] (103)   Inclusion body myopathy autosomal recessive [MESH:C538329] (40)  Musculoskeletal Abnormalities [MESH:D009139] (3796)   Arthrogryposis [MESH:D001176] (329)   Lethal congenital contracture syndrome 1 [MESH:C537194] (14)  Lethal Arthrogryposis With Anterior Horn Cell Disease [MESH:C567502] (14)  Craniofacial Abnormalities [MESH:D019465] (3098)   Malpuech facial clefting syndrome [MESH:C535704] (45)  Van Buchem disease type 2 [MESH:C536527] (30)  Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)  Costello Syndrome [MESH:D056685] (407)  LEOPARD Syndrome [MESH:D044542] (299)  Noonan Syndrome [MESH:D009634] (506)  Silver-Russell Syndrome [MESH:D056730] (142)  Craniofacial Dysostosis [MESH:D003394] (391)   Mandibulofacial Dysostosis [MESH:D008342] (63)  Hypertelorism [MESH:D006972] (109)   Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations [MESH:C567475] (12)  Craniosynostoses [MESH:D003398] (438)   Bohring syndrome [MESH:C537419] (26)  Oculopalatoskeletal syndrome [MESH:C537738] (45)  Acrocephalosyndactylia [MESH:D000168] (201)   Acrocephalopolysyndactyly Type II [MESH:C563187] (27)  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] (1447)   Jaw Abnormalities [MESH:D007569] (1438)   Cleft Palate [MESH:D002972] (1330)  Micrognathism [MESH:D008844] (230)   Meier-Gorlin syndrome [MESH:C538012] (133)  Cerebral Cavernous Malformations 3 [MESH:C566393] (27)  Microcephaly [MESH:D008831] (700)   Oculodigitoesophagoduodenal syndrome [MESH:C537734] (58)  Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83)  Nijmegen Breakage Syndrome-Like Disorder [MESH:C567767] (76)  Plagiocephaly [MESH:D059041] (440)   Craniosynostoses [MESH:D003398] (438)   Bohring syndrome [MESH:C537419] (26)  Oculopalatoskeletal syndrome [MESH:C537738] (45)  Acrocephalosyndactylia [MESH:D000168] (201)   Acrocephalopolysyndactyly Type II [MESH:C563187] (27)  Hip Dislocation, Congenital [MESH:D006618] (56)   Carnevale syndrome [MESH:C535586] (45)  Limb Deformities, Congenital [MESH:D017880] (1813)   Acromicric dysplasia [MESH:C535662] (520)  VACTERL hydrocephaly [MESH:C536521] (151)  Oculodigitoesophagoduodenal syndrome [MESH:C537734] (58)  Proteus Syndrome [MESH:D016715] (152)  Lower Extremity Deformities, Congenital [MESH:D038061] (560)   Foot Deformities, Congenital [MESH:D005532] (538)   Acheiropodia [MESH:C536014] (13)  Polydactyly [MESH:D017689] (318)   McKusick Kaufman syndrome [MESH:C538159] (17)  Syndactyly, Type IV [MESH:C566092] (13)  Syndactyly [MESH:D013576] (487)   Syndactyly, Type IV [MESH:C566092] (13)  Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations [MESH:C567475] (12)  Acrocephalosyndactylia [MESH:D000168] (201)   Acrocephalopolysyndactyly Type II [MESH:C563187] (27)  Upper Extremity Deformities, Congenital [MESH:D038062] (604)   Hand Deformities, Congenital [MESH:D006228] (587)   Heart-hand syndrome, Slovenian type [MESH:C535852] (77)  Acheiropodia [MESH:C536014] (13)  Synostosis [MESH:D013580] (817)   Craniosynostoses [MESH:D003398] (438)   Bohring syndrome [MESH:C537419] (26)  Oculopalatoskeletal syndrome [MESH:C537738] (45)  Acrocephalosyndactylia [MESH:D000168] (201)   Acrocephalopolysyndactyly Type II [MESH:C563187] (27)  Syndactyly [MESH:D013576] (487)   Syndactyly, Type IV [MESH:C566092] (13)  Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations [MESH:C567475] (12)  Acrocephalosyndactylia [MESH:D000168] (201)   Acrocephalopolysyndactyly Type II [MESH:C563187] (27)  Rheumatic Diseases [MESH:D012216] (4032)   Arthritis, Rheumatoid [MESH:D001172] (3603)  Osteoarthritis [MESH:D010003] (1743) C06. Digestive System Diseases  C06. Digestive System Diseases  Digestive System Diseases [MESH:D004066] (9461)   Biliary Tract Diseases [MESH:D001660] (3845)   Bile Duct Diseases [MESH:D001649] (3512)   Cholestasis [MESH:D002779] (3419)   Cholestasis, Intrahepatic [MESH:D002780] (1510)   Liver Cirrhosis, Biliary [MESH:D008105] (1274)  Digestive System Abnormalities [MESH:D004065] (2127)   Barrett Esophagus [MESH:D001471] (1930)  Hirschsprung Disease [MESH:D006627] (361)  Digestive System Fistula [MESH:D016154] (102)   Esophageal Fistula [MESH:D004937] (89)   Tracheoesophageal Fistula [MESH:D014138] (88)   Oculodigitoesophagoduodenal syndrome [MESH:C537734] (58)  Digestive System Neoplasms [MESH:D004067] (7493)   Gastrointestinal Neoplasms [MESH:D005770] (6460)   Stomach Neoplasms [MESH:D013274] (4942)  Esophageal Neoplasms [MESH:D004938] (3737)   Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)  Adenocarcinoma Of Esophagus [MESH:C562730] (1530)  Gastrointestinal Stromal Tumors [MESH:D046152] (170)   Carney-Stratakis Syndrome [MESH:C564650] (65)  Intestinal Neoplasms [MESH:D007414] (5359)   Carcinoid Tumors, Intestinal [MESH:C562842] (28)  Colorectal Neoplasms [MESH:D015179] (5294)   Rectal Neoplasms [MESH:D012004] (717)  Colonic Neoplasms [MESH:D003110] (4405)   Adenomatous Polyposis Coli [MESH:D011125] (1565)   Colorectal Adenomatous Polyposis, Autosomal Recessive [MESH:C563924] (28)  Liver Neoplasms [MESH:D008113] (6048)   Carcinoma, Hepatocellular [MESH:D006528] (5375)  Liver Neoplasms, Experimental [MESH:D008114] (2837)  Pancreatic Neoplasms [MESH:D010190] (3820)   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 Fistula [MESH:D004937] (89)   Tracheoesophageal Fistula [MESH:D014138] (88)   Oculodigitoesophagoduodenal syndrome [MESH:C537734] (58)  Esophageal Neoplasms [MESH:D004938] (3737)   Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)  Adenocarcinoma Of Esophagus [MESH:C562730] (1530)  Esophagitis [MESH:D004941] (1120)   Esophagitis, Peptic [MESH:D004942] (709)  Gastroenteritis [MESH:D005759] (4066)   Colitis [MESH:D003092] (3199)   Colitis, Ulcerative [MESH:D003093] (2601)  Enterocolitis [MESH:D004760] (1536)   Enterocolitis, Necrotizing [MESH:D020345] (1367)  Esophagitis [MESH:D004941] (1120)   Esophagitis, Peptic [MESH:D004942] (709)  Inflammatory Bowel Diseases [MESH:D015212] (3492)   Inflammatory Bowel Disease 10 [MESH:C567021] (18)  Inflammatory Bowel Disease 25, Autosomal Recessive [MESH:C567251] (43)  Colitis, Ulcerative [MESH:D003093] (2601)  Crohn Disease [MESH:D003424] (2585)  Gastrointestinal Neoplasms [MESH:D005770] (6460)   Stomach Neoplasms [MESH:D013274] (4942)  Esophageal Neoplasms [MESH:D004938] (3737)   Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)  Adenocarcinoma Of Esophagus [MESH:C562730] (1530)  Gastrointestinal Stromal Tumors [MESH:D046152] (170)   Carney-Stratakis Syndrome [MESH:C564650] (65)  Intestinal Neoplasms [MESH:D007414] (5359)   Carcinoid Tumors, Intestinal [MESH:C562842] (28)  Colorectal Neoplasms [MESH:D015179] (5294)   Rectal Neoplasms [MESH:D012004] (717)  Colonic Neoplasms [MESH:D003110] (4405)   Adenomatous Polyposis Coli [MESH:D011125] (1565)   Colorectal Adenomatous Polyposis, Autosomal Recessive [MESH:C563924] (28)  Intestinal Diseases [MESH:D007410] (6206)   Colonic Diseases [MESH:D003108] (5564)   Colitis [MESH:D003092] (3199)   Colitis, Ulcerative [MESH:D003093] (2601)  Colorectal Neoplasms [MESH:D015179] (5282)   Colonic Neoplasms [MESH:D003110] (4405)   Adenomatous Polyposis Coli [MESH:D011125] (1565)   Colorectal Adenomatous Polyposis, Autosomal Recessive [MESH:C563924] (28)  Megacolon [MESH:D008531] (386)   Hirschsprung Disease [MESH:D006627] (361)  Enterocolitis [MESH:D004760] (1536)   Enterocolitis, Necrotizing [MESH:D020345] (1367)  Inflammatory Bowel Diseases [MESH:D015212] (3492)   Inflammatory Bowel Disease 10 [MESH:C567021] (18)  Inflammatory Bowel Disease 25, Autosomal Recessive [MESH:C567251] (43)  Colitis, Ulcerative [MESH:D003093] (2601)  Crohn Disease [MESH:D003424] (2585)  Intestinal Neoplasms [MESH:D007414] (5359)   Carcinoid Tumors, Intestinal [MESH:C562842] (28)  Colorectal Neoplasms [MESH:D015179] (5294)   Rectal Neoplasms [MESH:D012004] (717)  Colonic Neoplasms [MESH:D003110] (4405)   Adenomatous Polyposis Coli [MESH:D011125] (1565)   Colorectal Adenomatous Polyposis, Autosomal Recessive [MESH:C563924] (28)  Intestinal Polyposis [MESH:D044483] (1610)   Juvenile polyposis syndrome [MESH:C537702] (196)  Adenomatous Polyposis Coli [MESH:D011125] (1565)   Colorectal Adenomatous Polyposis, Autosomal Recessive [MESH:C563924] (28)  Malabsorption Syndromes [MESH:D008286] (492)   Chylomicron retention disease [MESH:C535460] (23)  Celiac Disease [MESH:D002446] (340)  Rectal Diseases [MESH:D012002] (4596)   Colorectal Neoplasms [MESH:D015179] (4534)   Rectal Neoplasms [MESH:D012004] (717)  Peptic Ulcer [MESH:D010437] (3172)   Esophagitis, Peptic [MESH:D004942] (709)  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)  Zellweger Syndrome [MESH:D015211] (182)  Cholestasis, Intrahepatic [MESH:D002780] (1510)   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)  Hepatitis [MESH:D006505] (3883)   Hepatitis, Animal [MESH:D006520] (260)  Hepatitis, Viral, Human [MESH:D006525] (1766)   Hepatitis B [MESH:D006509] (976)  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)   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)   Cystic Fibrosis [MESH:D003550] (760)  Pancreatic Neoplasms [MESH:D010190] (3820)   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)   Cleft Palate [MESH:D002972] (1330)  Micrognathism [MESH:D008844] (230)   Meier-Gorlin syndrome [MESH:C538012] (133)  Cerebral Cavernous Malformations 3 [MESH:C566393] (27)  Mouth Diseases [MESH:D009059] (4783)   Behcet Syndrome [MESH:D001528] (1784)  Lip Diseases [MESH:D008047] (924)   Cleft Lip [MESH:D002971] (914)  Mouth Abnormalities [MESH:D009056] (1383)   Cleft Lip [MESH:D002971] (914)  Cleft Palate [MESH:D002972] (1330)  Macrostomia [MESH:D008265] (38)  Mouth Neoplasms [MESH:D009062] (2263)   Salivary Gland Neoplasms [MESH:D012468] (968)  Tongue Neoplasms [MESH:D014062] (1518)  Salivary Gland Diseases [MESH:D012466] (1213)   Salivary Gland Neoplasms [MESH:D012468] (968)  Tongue Diseases [MESH:D014060] (1544)   Tongue Neoplasms [MESH:D014062] (1518)  Pharyngeal Diseases [MESH:D010608] (1562)   Nasopharyngeal Diseases [MESH:D009302] (1508)   Nasopharyngeal Neoplasms [MESH:D009303] (1500)  Pharyngeal Neoplasms [MESH:D010610] (1520)   Nasopharyngeal Neoplasms [MESH:D009303] (1500)  Stomatognathic System Abnormalities [MESH:D018640] (1705)   Maxillofacial Abnormalities [MESH:D019767] (1447)   Jaw Abnormalities [MESH:D007569] (1438)   Cleft Palate [MESH:D002972] (1330)  Micrognathism [MESH:D008844] (230)   Meier-Gorlin syndrome [MESH:C538012] (133)  Cerebral Cavernous Malformations 3 [MESH:C566393] (27)  Mouth Abnormalities [MESH:D009056] (1383)   Cleft Lip [MESH:D002971] (914)  Cleft Palate [MESH:D002972] (1330)  Macrostomia [MESH:D008265] (38)  Tooth Abnormalities [MESH:D014071] (622)   Tooth Agenesis, Selective, 6 [MESH:C567755] (154)  Tooth Diseases [MESH:D014076] (742)   Tooth Abnormalities [MESH:D014071] (622)   Tooth Agenesis, Selective, 6 [MESH:C567755] (154) C08. Respiratory Tract Diseases  C08. Respiratory Tract Diseases  Respiratory Tract Diseases [MESH:D012140] (7881)   Ciliary Motility Disorders [MESH:D002925] (104)  Pleural Diseases [MESH:D010995] (2240)  Bronchial Diseases [MESH:D001982] (4382)   Asthma [MESH:D001249] (4098)  Lung Diseases [MESH:D008171] (7249)   Cystic Fibrosis [MESH:D003550] (760)  Plasma Cell Granuloma, Pulmonary [MESH:D016726] (63)  Pneumonia [MESH:D011014] (3482)  Pulmonary Edema [MESH:D011654] (2109)  Pulmonary Veno-Occlusive Disease [MESH:D011668] (55)  Hypertension, Pulmonary [MESH:D006976] (2000)   Pulmonary arterial hypertension [MESH:C536282] (94)  Lung Diseases, Interstitial [MESH:D017563] (2966)   Surfactant Metabolism Dysfunction, Pulmonary, 3 [MESH:C567046] (24)  Idiopathic Interstitial Pneumonias [MESH:D054988] (314)   Idiopathic Pulmonary Fibrosis [MESH:D054990] (310)  Pneumoconiosis [MESH:D011009] (2789)   Asbestosis [MESH:D001195] (935)  Lung Diseases, Obstructive [MESH:D008173] (4697)   Asthma [MESH:D001249] (3903)  Pulmonary Disease, Chronic Obstructive [MESH:D029424] (3564)  Lung Injury [MESH:D055370] (3688)   Acute Lung Injury [MESH:D055371] (1907)  Pneumoconiosis [MESH:D011009] (2789)   Asbestosis [MESH:D001195] (935)  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)  Pulmonary Alveolar Proteinosis [MESH:D011649] (139)   Surfactant Metabolism Dysfunction, Pulmonary, 3 [MESH:C567046] (24)  Surfactant Metabolism Dysfunction, Pulmonary, 4 [MESH:C567461] (30)  Pulmonary Embolism [MESH:D011655] (1118)   Schimke immunoosseous dysplasia [MESH:C536629] (16)  Pulmonary Fibrosis [MESH:D011658] (3140)   Idiopathic Pulmonary Fibrosis [MESH:D054990] (310)  Respiration Disorders [MESH:D012120] (2218)   Apnea [MESH:D001049] (748)   Sleep Apnea Syndromes [MESH:D012891] (570)   Sleep Apnea, Central [MESH:D020182] (347)   Congenital central hypoventilation syndrome [MESH:C536209] (341)  Hyperventilation [MESH:D006985] (654)   Pitt-Hopkins syndrome [MESH:C537403] (113)  Respiratory Insufficiency [MESH:D012131] (841)   Hypoventilation [MESH:D007040] (360)   Congenital central hypoventilation syndrome [MESH:C536209] (341)  Respiratory Hypersensitivity [MESH:D012130] (4401)   Asthma [MESH:D001249] (4098)  Respiratory Tract Fistula [MESH:D016156] (91)   Tracheoesophageal Fistula [MESH:D014138] (88)   Oculodigitoesophagoduodenal syndrome [MESH:C537734] (58)  Respiratory Tract Infections [MESH:D012141] (3926)   Influenza, Human [MESH:D007251] (1075)  Pneumonia [MESH:D011014] (3482)  Respiratory Tract Neoplasms [MESH:D012142] (6053)   Lung Neoplasms [MESH:D008175] (6013)   Adenocarcinoma of lung [MESH:C538231] (1487)  Bronchial Neoplasms [MESH:D001984] (3608)   Carcinoma, Bronchogenic [MESH:D002283] (3606)   Carcinoma, Non-Small-Cell Lung [MESH:D002289] (3540)  Small Cell Lung Carcinoma [MESH:D055752] (1380)  Tracheal Diseases [MESH:D014133] (107)   Tracheoesophageal Fistula [MESH:D014138] (88)   Oculodigitoesophagoduodenal syndrome [MESH:C537734] (58) 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)   Deaf-Blind Disorders [MESH:D054062] (132)   Wolfram Syndrome [MESH:D014929] (37)  Hearing Loss, Sensorineural [MESH:D006319] (1227)   MYH9-Related Disorders [MESH:C535507] (46)  Macrothrombocytopenia progressive deafness [MESH:C537831] (46)  Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness [MESH:C562897] (11)  Deafness, Autosomal Dominant 6 [MESH:C563421] (32)  Nephropathy with Pretibial Epidermolysis Bullosa and Deafness [MESH:C563798] (43)  Deafness, Autosomal Recessive 28 [MESH:C565218] (26)  Deafness, Autosomal Dominant 20 [MESH:C565754] (69)  Labyrinth Diseases [MESH:D007759] (846)   Vestibular Diseases [MESH:D015837] (819)  Otorhinolaryngologic Neoplasms [MESH:D010039] (1561)   Pharyngeal Neoplasms [MESH:D010610] (1520)   Nasopharyngeal Neoplasms [MESH:D009303] (1500)  Pharyngeal Diseases [MESH:D010608] (1605)   Nasopharyngeal Diseases [MESH:D009302] (1508)   Nasopharyngeal Neoplasms [MESH:D009303] (1500)  Pharyngeal Neoplasms [MESH:D010610] (1520)   Nasopharyngeal Neoplasms [MESH:D009303] (1500) 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 [MESH:C535607] (57)  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)  Autonomic Nervous System Diseases [MESH:D001342] (882)   dopamine beta hydroxylase deficiency [MESH:C535600] (63)  Central Nervous System Diseases [MESH:D002493] (9745)   Brain Diseases [MESH:D001927] (9294)   Familial porencephaly [MESH:C536850] (77)  Brain Injuries [MESH:D001930] (3429)  Brain Neoplasms [MESH:D001932] (2764)  Basal Ganglia Diseases [MESH:D001480] (4268)   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 4, Autosomal Dominant Lewy Body [MESH:C565324] (136)  Parkinson Disease [MESH:D010300] (3595)   Progressive supranuclear palsy atypical [MESH:C537240] (142)  Parkinson Disease 4, Autosomal Dominant Lewy Body [MESH:C565324] (136)  Supranuclear Palsy, Progressive [MESH:D013494] (235)   Progressive supranuclear palsy atypical [MESH:C537240] (142)  Brain Diseases, Metabolic [MESH:D001928] (3351)   Mitochondrial Encephalomyopathies [MESH:D017237] (158)  Brain Diseases, Metabolic, Inborn [MESH:D020739] (2634)   Creatine deficiency, X-linked [MESH:C535598] (58)  Leigh Disease [MESH:D007888] (206)  Maple Syrup Urine Disease [MESH:D008375] (127)  Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497)   Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178)  Pelizaeus-Merzbacher Disease [MESH:D020371] (103)  Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636)   Sialic Acid Storage Disease [MESH:D029461] (63)  Mucolipidoses [MESH:D009081] (78)   Neuraminidase 1 deficiency [MESH:C537366] (31)  Mucolipidosis III Gamma [MESH:C565367] (13)  Sphingolipidoses [MESH:D013106] (582)   Gaucher Disease [MESH:D005776] (299)  Niemann-Pick Diseases [MESH:D009542] (136)   Niemann-Pick Disease, Type C [MESH:D052556] (103)  MELAS Syndrome [MESH:D017241] (1061)   Myopathy with lactic acidosis and sideroblastic anemia [MESH:C536101] (35)  Peroxisomal Disorders [MESH:D018901] (1472)   Refsum Disease [MESH:D012035] (173)  Zellweger Syndrome [MESH:D015211] (182)  Phenylketonurias [MESH:D010661] (156)   Hyperphenylalaninemia, BH4-Deficient, B [MESH:C562656] (97)  Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)   Pyruvate Dehydrogenase E2 Deficiency [MESH:C565448] (44)  Urea Cycle Disorders, Inborn [MESH:D056806] (315)   HHH syndrome [MESH:C538380] (29)  Cerebellar Diseases [MESH:D002526] (736)   Joubert syndrome 1 [MESH:C536293] (20)  Dandy-Walker Syndrome [MESH:D003616] (50)  Cerebellar Ataxia [MESH:D002524] (542)   Spinocerebellar Ataxias [MESH:D020754] (406)   Ataxia Telangiectasia [MESH:D001260] (142)   Early-onset ataxia with oculomotor apraxia and hypoalbuminemia [MESH:C538013] (18)  Spinocerebellar Degenerations [MESH:D013132] (449)   Spinocerebellar ataxia 28 [MESH:C537205] (13)  Spinocerebellar Ataxias [MESH:D020754] (322)  Olivopontocerebellar Atrophies [MESH:D009849] (49)   Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31)  Cerebrovascular Disorders [MESH:D002561] (5542)   Carotid Artery Diseases [MESH:D002340] (1993)  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)   MELAS Syndrome [MESH:D017241] (1061)   Myopathy with lactic acidosis and sideroblastic anemia [MESH:C536101] (35)  Intracranial Arterial Diseases [MESH:D020765] (2463)   Cerebral Arterial Diseases [MESH:D002539] (2440)   Infarction, Middle Cerebral Artery [MESH:D020244] (2268)  Intracranial Hemorrhages [MESH:D020300] (3269)   Cerebral Hemorrhage [MESH:D002543] (2873)  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)   Huntington Disease-Like 2 [MESH:C564708] (14)  Alzheimer Disease [MESH:D000544] (4275)  Huntington Disease [MESH:D006816] (540)  Frontotemporal Lobar Degeneration [MESH:D057174] (310)   Frontotemporal Dementia [MESH:D057180] (300)   Pick Disease of the Brain [MESH:D020774] (184)  Lewy Body Disease [MESH:D020961] (1143)   Parkinson Disease 4, Autosomal Dominant Lewy Body [MESH:C565324] (136)  Epilepsy [MESH:D004827] (6274)   Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy [MESH:C567020] (21)  Status Epilepticus [MESH:D013226] (4014)  Epilepsies, Partial [MESH:D004828] (1267)   Cortical Dysplasia-Focal Epilepsy Syndrome [MESH:C566482] (24)  Epilepsy, Frontal Lobe [MESH:D017034] (172)  Epilepsy, Temporal Lobe [MESH:D004833] (1108)  Epilepsy, Benign Neonatal [MESH:D020936] (57)   Epilepsy, Benign Neonatal, 3 [MESH:C564274] (13)  Epilepsy, Generalized [MESH:D004829] (1431)   Generalized Epilepsy and Paroxysmal Dyskinesia [MESH:C563719] (51)  Spasms, Infantile [MESH:D013036] (468)  Seizures [MESH:D012640] (4502)   Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83)  Headache Disorders [MESH:D020773] (2337)   Headache Disorders, Primary [MESH:D051270] (2327)   Migraine Disorders [MESH:D008881] (2318)   Migraine without Aura [MESH:D020326] (408)  Hydrocephalus [MESH:D006849] (276)   VACTERL hydrocephaly [MESH:C536521] (151)  Dandy-Walker Syndrome [MESH:D003616] (50)  Hypothalamic Diseases [MESH:D007027] (1833)   Bardet-Biedl Syndrome [MESH:D020788] (110)  Intracranial Hypertension [MESH:D019586] (368)   Hydrocephalus [MESH:D006849] (274)   VACTERL hydrocephaly [MESH:C536521] (151)  Dandy-Walker Syndrome [MESH:D003616] (50)  Leukoencephalopathies [MESH:D056784] (1916)   Ribose 5-Phosphate Isomerase Deficiency [MESH:C563212] (34)  Brain Small Vessel Disease with Hemorrhage [MESH:C564372] (77)  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)   Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178)  Pelizaeus-Merzbacher Disease [MESH:D020371] (103)  Neuroaxonal Dystrophies [MESH:D019150] (100)   Neurodegeneration with brain iron accumulation (NBIA) [MESH:C538421] (30)  Movement Disorders [MESH:D009069] (4823)   Dyskinesias [MESH:D020820] (1827)   Dyskinesia, Drug-Induced [MESH:D004409] (1389)  Chorea [MESH:D002819] (651)   Generalized Epilepsy and Paroxysmal Dyskinesia [MESH:C563719] (51)  Huntington Disease-Like 2 [MESH:C564708] (14)  Huntington Disease [MESH:D006816] (540)  Dystonic Disorders [MESH:D020821] (729)   Juvenile-onset dystonia [MESH:C537704] (143)  Dystonia, Dopa-responsive [MESH:C538007] (98)  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 4, Autosomal Dominant Lewy Body [MESH:C565324] (136)  Parkinson Disease [MESH:D010300] (3595)   Progressive supranuclear palsy atypical [MESH:C537240] (142)  Parkinson Disease 4, Autosomal Dominant Lewy Body [MESH:C565324] (136)  Supranuclear Palsy, Progressive [MESH:D013494] (235)   Progressive supranuclear palsy atypical [MESH:C537240] (142)  Spinal Cord Diseases [MESH:D013118] (4376)   Spinal Cord Injuries [MESH:D013119] (1674)  Amyotrophic Lateral Sclerosis [MESH:D000690] (3296)   Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559)  Muscular Atrophy, Spinal [MESH:D009134] (850)   Neuronopathy, Distal Hereditary Motor, Type IIB [MESH:C567084] (219)  Spinocerebellar Degenerations [MESH:D013132] (449)   Spinocerebellar ataxia 28 [MESH:C537205] (13)  Spinocerebellar Ataxias [MESH:D020754] (322)  Olivopontocerebellar Atrophies [MESH:D009849] (49)   Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31)  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)   Ophthalmoplegia [MESH:D009886] (1468)   Fibrosis Of Extraocular Muscles, Congenital, 2 [MESH:C566587] (18)  Supranuclear Palsy, Progressive [MESH:D013494] (235)   Progressive supranuclear palsy atypical [MESH:C537240] (142)  Strabismus [MESH:D013285] (79)   Carnevale syndrome [MESH:C535586] (45)  Optic Nerve Diseases [MESH:D009901] (1375)   Optic Atrophy [MESH:D009896] (1203)   Optic Atrophies, Hereditary [MESH:D015418] (1151)   Wolfram Syndrome [MESH:D014929] (37)  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)   Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178)  Pelizaeus-Merzbacher Disease [MESH:D020371] (103)  Nervous System Malformations [MESH:D009421] (3354)   Aicardi-Goutieres syndrome [MESH:C535607] (57)  Dandy-Walker Syndrome [MESH:D003616] (50)  Agenesis of Corpus Callosum [MESH:D061085] (345)   Holoprosencephaly [MESH:D016142] (218)   Holoprosencephaly 4 [MESH:C564180] (70)  Central Nervous System Vascular Malformations [MESH:D020785] (1031)   Hemangioma, Cavernous, Central Nervous System [MESH:D020786] (35)  Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899)   Slowed Nerve Conduction Velocity, Autosomal Dominant [MESH:C564269] (12)  Refsum Disease [MESH:D012035] (173)  Charcot-Marie-Tooth Disease [MESH:D002607] (627)   Charcot-Marie-Tooth disease, Type 2F [MESH:C535413] (219)  Charcot-Marie-Tooth disease, Type 1F [MESH:C537987] (89)  Charcot-Marie-Tooth disease, Type 2B1 [MESH:C537990] (77)  Charcot-Marie-Tooth disease, Type 2E [MESH:C537994] (89)  Spastic Paraplegia, Hereditary [MESH:D015419] (449)   Spastic paraplegia 15, autosomal recessive [MESH:C536642] (16)  Spastic paraplegia 4, autosomal dominant [MESH:C536865] (21)  Spastic paraplegia 6, autosomal dominant [MESH:C536866] (12)  Spastic paraplegia 11, autosomal recessive [MESH:C537483] (8)  Spastic paraplegia 13, autosomal dominant [MESH:C537485] (178)  Spastic Paraplegia 7, Autosomal Recessive [MESH:C564599] (23)  Malformations of Cortical Development [MESH:D054220] (1406)   Cortical Dysplasia-Focal Epilepsy Syndrome [MESH:C566482] (24)  Lissencephaly [MESH:D054082] (218)   Classical Lissencephalies and Subcortical Band Heterotopias [MESH:D054221] (114)  Cobblestone Lissencephaly [MESH:D054222] (37)   Walker-Warburg Syndrome [MESH:D058494] (36)  Macrocephaly [MESH:D058627] (264)   Macrocephaly Autism Syndrome [MESH:C565342] (151)  Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy [MESH:C567020] (21)  Microcephaly [MESH:D008831] (700)   Oculodigitoesophagoduodenal syndrome [MESH:C537734] (58)  Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83)  Nijmegen Breakage Syndrome-Like Disorder [MESH:C567767] (76)  Neuronal Migration Disorders [MESH:D054081] (264)   Classical Lissencephalies and Subcortical Band Heterotopias [MESH:D054221] (114)  Neural Tube Defects [MESH:D009436] (2143)   Arnold-Chiari Malformation [MESH:D001139] (28)  Spinal Dysraphism [MESH:D016135] (1025)  Nervous System Neoplasms [MESH:D009423] (3073)   Central Nervous System Neoplasms [MESH:D016543] (3055)   Brain Neoplasms [MESH:D001932] (2764)  Meningeal Neoplasms [MESH:D008577] (984)   Meningioma [MESH:D008579] (978)   Meningioma, familial [MESH:C537443] (195)  Neurocutaneous Syndromes [MESH:D020752] (1230)   Sturge-Weber Syndrome [MESH:D013341] (76)  von Hippel-Lindau Disease [MESH:D006623] (580)  Ataxia Telangiectasia [MESH:D001260] (142)   Early-onset ataxia with oculomotor apraxia and hypoalbuminemia [MESH:C538013] (18)  Neurodegenerative Diseases [MESH:D019636] (6613)   Heredodegenerative Disorders, Nervous System [MESH:D020271] (3243)   Huntington Disease-Like 2 [MESH:C564708] (14)  Huntington Disease [MESH:D006816] (540)  Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (241)   Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178)  Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899)   Slowed Nerve Conduction Velocity, Autosomal Dominant [MESH:C564269] (12)  Refsum Disease [MESH:D012035] (173)  Charcot-Marie-Tooth Disease [MESH:D002607] (627)   Charcot-Marie-Tooth disease, Type 2F [MESH:C535413] (219)  Charcot-Marie-Tooth disease, Type 1F [MESH:C537987] (89)  Charcot-Marie-Tooth disease, Type 2B1 [MESH:C537990] (77)  Charcot-Marie-Tooth disease, Type 2E [MESH:C537994] (89)  Spastic Paraplegia, Hereditary [MESH:D015419] (449)   Spastic paraplegia 15, autosomal recessive [MESH:C536642] (16)  Spastic paraplegia 4, autosomal dominant [MESH:C536865] (21)  Spastic paraplegia 6, autosomal dominant [MESH:C536866] (12)  Spastic paraplegia 11, autosomal recessive [MESH:C537483] (8)  Spastic paraplegia 13, autosomal dominant [MESH:C537485] (178)  Spastic Paraplegia 7, Autosomal Recessive [MESH:C564599] (23)  Neuronal Ceroid-Lipofuscinoses [MESH:D009472] (1026)   Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)  Optic Atrophies, Hereditary [MESH:D015418] (1151)   Wolfram Syndrome [MESH:D014929] (37)  Spinocerebellar Degenerations [MESH:D013132] (449)   Spinocerebellar ataxia 28 [MESH:C537205] (13)  Spinocerebellar Ataxias [MESH:D020754] (322)  Olivopontocerebellar Atrophies [MESH:D009849] (49)   Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31)  Lewy Body Disease [MESH:D020961] (1143)   Parkinson Disease 4, Autosomal Dominant Lewy Body [MESH:C565324] (136)  Motor Neuron Disease [MESH:D016472] (3670)   Lethal Arthrogryposis With Anterior Horn Cell Disease [MESH:C567502] (14)  Amyotrophic Lateral Sclerosis [MESH:D000690] (3296)   Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559)  Muscular Atrophy, Spinal [MESH:D009134] (850)   Neuronopathy, Distal Hereditary Motor, Type IIB [MESH:C567084] (219)  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)   Progressive supranuclear palsy atypical [MESH:C537240] (142)  Parkinson Disease 4, Autosomal Dominant Lewy Body [MESH:C565324] (136)  Tauopathies [MESH:D024801] (4289)   Alzheimer Disease [MESH:D000544] (4275)  Supranuclear Palsy, Progressive [MESH:D013494] (235)   Progressive supranuclear palsy atypical [MESH:C537240] (142)  TDP-43 Proteinopathies [MESH:D057177] (3337)   Amyotrophic Lateral Sclerosis [MESH:D000690] (3296)   Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559)  Frontotemporal Lobar Degeneration [MESH:D057174] (308)   Frontotemporal Dementia [MESH:D057180] (298)  Neurologic Manifestations [MESH:D009461] (8964)   Dyskinesias [MESH:D020820] (3365)   Catalepsy [MESH:D002375] (1429)  Dystonia [MESH:D004421] (848)  Hyperkinesis [MESH:D006948] (1799)  Hypokinesia [MESH:D018476] (279)  Psychomotor Agitation [MESH:D011595] (167)  Tics [MESH:D020323] (62)  Ataxia [MESH:D001259] (1138)   Cerebellar Ataxia [MESH:D002524] (542)   Spinocerebellar Ataxias [MESH:D020754] (406)   Ataxia Telangiectasia [MESH:D001260] (142)   Early-onset ataxia with oculomotor apraxia and hypoalbuminemia [MESH:C538013] (18)  Chorea [MESH:D002819] (189)   Generalized Epilepsy and Paroxysmal Dyskinesia [MESH:C563719] (51)  Huntington Disease-Like 2 [MESH:C564708] (14)  Neurobehavioral Manifestations [MESH:D019954] (5230)   Memory Disorders [MESH:D008569] (3233)  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)   Stuttering [MESH:D013342] (38)  Articulation Disorders [MESH:D001184] (164)   Dysarthria [MESH:D004401] (163)  Intellectual Disability [MESH:D008607] (3054)   MORM syndrome [MESH:C536984] (15)  Pitt-Hopkins syndrome [MESH:C537403] (113)  Bohring syndrome [MESH:C537419] (26)  Oculodigitoesophagoduodenal syndrome [MESH:C537734] (58)  Brunner Syndrome [MESH:C563156] (124)  Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)  Cerebral Cavernous Malformations 3 [MESH:C566393] (27)  Mental Retardation, Fra12a Type [MESH:C566980] (15)  Down Syndrome [MESH:D004314] (1287)  Williams Syndrome [MESH:D018980] (133)  Mental Retardation, X-Linked [MESH:D038901] (1854)   Creatine deficiency, X-linked [MESH:C535598] (58)  Mental Retardation, X-Linked 58 [MESH:C564566] (32)  Mental Retardation, X-Linked, Syndromic 14 [MESH:C567063] (30)  Mucopolysaccharidosis II [MESH:D016532] (26)  Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)   Pyruvate Dehydrogenase E2 Deficiency [MESH:C565448] (44)  Psychomotor Disorders [MESH:D011596] (576)   Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83)  Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy [MESH:C567020] (21)  Psychomotor Agitation [MESH:D011595] (167)  Apraxias [MESH:D001072] (118)   Early-onset ataxia with oculomotor apraxia and hypoalbuminemia [MESH:C538013] (18)  Neuromuscular Manifestations [MESH:D020879] (2130)   Muscle Weakness [MESH:D018908] (478)  Muscle Cramp [MESH:D009120] (135)   Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps [MESH:C567088] (77)  Muscle Hypertonia [MESH:D009122] (775)   Muscle Rigidity [MESH:D009127] (617)   Hyperexplexia hereditary [MESH:C538136] (80)  Muscle Hypotonia [MESH:D009123] (258)   Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)  Muscular Atrophy [MESH:D009133] (1234)   Lethal Congenital Contractural Syndrome 3 [MESH:C566961] (10)  Pain [MESH:D010146] (3875)   Pain, Intractable [MESH:D010148] (707)  Neuralgia [MESH:D009437] (2074)   Neuralgia, Postherpetic [MESH:D051474] (742)  Paralysis [MESH:D010243] (2043)   Paraplegia [MESH:D010264] (65)  Hemiplegia [MESH:D006429] (184)   Familial porencephaly [MESH:C536850] (77)  Ophthalmoplegia [MESH:D009886] (1468)   Fibrosis Of Extraocular Muscles, Congenital, 2 [MESH:C566587] (18)  Supranuclear Palsy, Progressive [MESH:D013494] (235)   Progressive supranuclear palsy atypical [MESH:C537240] (142)  Seizures [MESH:D012640] (4514)   Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83)  Sensation Disorders [MESH:D012678] (5011)   Olfaction Disorders [MESH:D000857] (105)  Hearing Disorders [MESH:D006311] (2103)   Hearing Loss [MESH:D034381] (2068)   Deafness [MESH:D003638] (623)   Deaf-Blind Disorders [MESH:D054062] (132)   Wolfram Syndrome [MESH:D014929] (37)  Hearing Loss, Sensorineural [MESH:D006319] (1227)   MYH9-Related Disorders [MESH:C535507] (46)  Macrothrombocytopenia progressive deafness [MESH:C537831] (46)  Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness [MESH:C562897] (11)  Deafness, Autosomal Dominant 6 [MESH:C563421] (32)  Nephropathy with Pretibial Epidermolysis Bullosa and Deafness [MESH:C563798] (43)  Deafness, Autosomal Recessive 28 [MESH:C565218] (26)  Deafness, Autosomal Dominant 20 [MESH:C565754] (69)  Somatosensory Disorders [MESH:D020886] (4000)   Hyperalgesia [MESH:D006930] (3929)  Vision Disorders [MESH:D014786] (501)   Blindness [MESH:D001766] (252)   Deaf-Blind Disorders [MESH:D054062] (132)   Wolfram Syndrome [MESH:D014929] (37)  Neuromuscular Diseases [MESH:D009468] (7336)   Motor Neuron Disease [MESH:D016472] (3670)   Lethal Arthrogryposis With Anterior Horn Cell Disease [MESH:C567502] (14)  Amyotrophic Lateral Sclerosis [MESH:D000690] (3296)   Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559)  Muscular Atrophy, Spinal [MESH:D009134] (850)   Neuronopathy, Distal Hereditary Motor, Type IIB [MESH:C567084] (219)  Muscular Atrophy, Spinal [MESH:D009134] (377)   Neuronopathy, Distal Hereditary Motor, Type IIB [MESH:C567084] (219)  Muscular Diseases [MESH:D009135] (3538)   Muscular Disorders, Atrophic [MESH:D020966] (1594)   Muscular Dystrophies [MESH:D009136] (1589)   Muscular Dystrophy, Congenital, Lmna-Related [MESH:C567708] (77)  Muscular Dystrophy, Emery-Dreifuss [MESH:D020389] (169)  Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854)  Distal Myopathies [MESH:D049310] (178)   Distal myopathy, Nonaka type [MESH:C536816] (40)  Muscular Dystrophies, Limb-Girdle [MESH:D049288] (259)   Limb-girdle muscular dystrophy type 2H [MESH:C535897] (15)  Limb-girdle muscular dystrophy, type 1B [MESH:C535898] (77)  Mitochondrial Myopathies [MESH:D017240] (2176)   Mitochondrial Encephalomyopathies [MESH:D017237] (1121)   MELAS Syndrome [MESH:D017241] (1061)   Myopathy with lactic acidosis and sideroblastic anemia [MESH:C536101] (35)  Myopathies, Structural, Congenital [MESH:D020914] (272)   Myopathies, Nemaline [MESH:D017696] (173)   Nemaline myopathy 1 [MESH:C538348] (69)  Myositis [MESH:D009220] (2069)   Myositis, Inclusion Body [MESH:D018979] (103)   Inclusion body myopathy autosomal recessive [MESH:C538329] (40)  Peripheral Nervous System Diseases [MESH:D010523] (6151)   Diabetic Neuropathies [MESH:D003929] (2442)  Neuralgia [MESH:D009437] (2078)   Neuralgia, Postherpetic [MESH:D051474] (742)  Polyneuropathies [MESH:D011115] (1134)   Ribose 5-Phosphate Isomerase Deficiency [MESH:C563212] (34)  Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899)   Slowed Nerve Conduction Velocity, Autosomal Dominant [MESH:C564269] (12)  Refsum Disease [MESH:D012035] (173)  Charcot-Marie-Tooth Disease [MESH:D002607] (627)   Charcot-Marie-Tooth disease, Type 2F [MESH:C535413] (219)  Charcot-Marie-Tooth disease, Type 1F [MESH:C537987] (89)  Charcot-Marie-Tooth disease, Type 2B1 [MESH:C537990] (77)  Charcot-Marie-Tooth disease, Type 2E [MESH:C537994] (89)  Spastic Paraplegia, Hereditary [MESH:D015419] (449)   Spastic paraplegia 15, autosomal recessive [MESH:C536642] (16)  Spastic paraplegia 4, autosomal dominant [MESH:C536865] (21)  Spastic paraplegia 6, autosomal dominant [MESH:C536866] (12)  Spastic paraplegia 11, autosomal recessive [MESH:C537483] (8)  Spastic paraplegia 13, autosomal dominant [MESH:C537485] (178)  Spastic Paraplegia 7, Autosomal Recessive [MESH:C564599] (23)  Neurotoxicity Syndromes [MESH:D020258] (4570)   Dyskinesia, Drug-Induced [MESH:D004409] (1389)  Heavy Metal Poisoning, Nervous System [MESH:D020260] (2912)   Arsenic Poisoning [MESH:D020261] (2540)  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)   MORM syndrome [MESH:C536984] (15)  Exudative Vitreoretinopathy 4 [MESH:C566619] (30)  Vitreoretinopathy, Proliferative [MESH:D018630] (58)  Corneal Diseases [MESH:D003316] (1445)   Corneal Dystrophies, Hereditary [MESH:D003317] (341)   Bietti Crystalline Dystrophy [MESH:C535440] (13)  Corneal Dystrophy, Congenital Stromal [MESH:C566452] (90)  Eye Abnormalities [MESH:D005124] (1233)   Joubert syndrome 1 [MESH:C536293] (20)  Oculopalatoskeletal syndrome [MESH:C537738] (45)  Coloboma [MESH:D003103] (315)  Fraser Syndrome [MESH:D058497] (29)  Microphthalmos [MESH:D008850] (273)   Microphthalmia, syndromic 7 [MESH:C537466] (18)  Eye Diseases, Hereditary [MESH:D015785] (1869)   Fibrosis Of Extraocular Muscles, Congenital, 2 [MESH:C566587] (18)  Choroideremia [MESH:D015794] (18)  Walker-Warburg Syndrome [MESH:D058494] (36)  Corneal Dystrophies, Hereditary [MESH:D003317] (341)   Bietti Crystalline Dystrophy [MESH:C535440] (13)  Corneal Dystrophy, Congenital Stromal [MESH:C566452] (90)  Optic Atrophies, Hereditary [MESH:D015418] (1151)   Wolfram Syndrome [MESH:D014929] (37)  Retinitis Pigmentosa [MESH:D012174] (414)   Retinitis Pigmentosa 33 [MESH:C563676] (20)  Retinitis Pigmentosa 13 [MESH:C564008] (30)  Retinitis Pigmentosa 9 [MESH:C566716] (13)  Retinitis Pigmentosa 42 [MESH:C567854] (27)  Eye Hemorrhage [MESH:D005130] (94)   Retinal Hemorrhage [MESH:D012166] (84)   Brain Small Vessel Disease with Hemorrhage [MESH:C564372] (77)  Eye Neoplasms [MESH:D005134] (413)   Retinal Neoplasms [MESH:D019572] (320)   Retinoblastoma [MESH:D012175] (319)  Uveal Neoplasms [MESH:D014604] (115)   Uveal melanoma [MESH:C536494] (109)  Eyelid Diseases [MESH:D005141] (882)   Blepharoptosis [MESH:D001763] (117)   Carnevale syndrome [MESH:C535586] (45)  Fibrosis Of Extraocular Muscles, Congenital, 2 [MESH:C566587] (18)  Lens Diseases [MESH:D007905] (900)   Cataract [MESH:D002386] (860)   Hyperferritinemia, hereditary, with congenital cataracts [MESH:C538137] (82)  Cataract, Juvenile, With Microcornea And Glucosuria [MESH:C567434] (26)  Ocular Hypertension [MESH:D009798] (1630)   Glaucoma [MESH:D005901] (1458)  Ocular Motility Disorders [MESH:D015835] (1699)   Ophthalmoplegia [MESH:D009886] (1468)   Fibrosis Of Extraocular Muscles, Congenital, 2 [MESH:C566587] (18)  Supranuclear Palsy, Progressive [MESH:D013494] (235)   Progressive supranuclear palsy atypical [MESH:C537240] (142)  Strabismus [MESH:D013285] (79)   Carnevale syndrome [MESH:C535586] (45)  Optic Nerve Diseases [MESH:D009901] (1377)   Optic Atrophy [MESH:D009896] (1203)   Optic Atrophies, Hereditary [MESH:D015418] (1151)   Wolfram Syndrome [MESH:D014929] (37)  Orbital Diseases [MESH:D009916] (317)   Exophthalmos [MESH:D005094] (297)   Graves Disease [MESH:D006111] (278)  Refractive Errors [MESH:D012030] (457)   Anisometropia [MESH:D015858] (152)  Retinal Diseases [MESH:D012164] (3747)   Bietti Crystalline Dystrophy [MESH:C535440] (13)  Exudative Vitreoretinopathy 4 [MESH:C566619] (30)  Retinal Detachment [MESH:D012163] (1639)  Vitreoretinopathy, Proliferative [MESH:D018630] (58)  Retinal Degeneration [MESH:D012162] (2386)   Spastic paraplegia 15, autosomal recessive [MESH:C536642] (16)  Retinal Dystrophies [MESH:D058499] (1315)   Retinitis Pigmentosa [MESH:D012174] (1307)   Retinitis Pigmentosa 33 [MESH:C563676] (20)  Retinitis Pigmentosa 13 [MESH:C564008] (30)  Retinitis Pigmentosa 9 [MESH:C566716] (13)  Retinitis Pigmentosa 42 [MESH:C567854] (27)  Retinal Hemorrhage [MESH:D012166] (84)   Brain Small Vessel Disease with Hemorrhage [MESH:C564372] (77)  Retinal Neoplasms [MESH:D019572] (320)   Retinoblastoma [MESH:D012175] (319)  Uveal Diseases [MESH:D014603] (2428)   Choroid Diseases [MESH:D015862] (595)   Choroideremia [MESH:D015794] (18)  Uveal Neoplasms [MESH:D014604] (115)   Uveal melanoma [MESH:C536494] (109)  Uveitis [MESH:D014605] (2157)   Panuveitis [MESH:D015864] (1805)   Uveitis, Anterior [MESH:D014606] (1791)   Behcet Syndrome [MESH:D001528] (1784)  Vision Disorders [MESH:D014786] (534)   Blindness [MESH:D001766] (259)   Deaf-Blind Disorders [MESH:D054062] (132)   Wolfram Syndrome [MESH:D014929] (37) 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)   Prostatic Neoplasms [MESH:D011471] (6135)   Prostate Cancer, Hereditary, 12 [MESH:C567510] (26)  Infertility [MESH:D007246] (2909)   Infertility, Male [MESH:D007248] (2851)   Asthenozoospermia [MESH:D053627] (298)  Oligospermia [MESH:D009845] (799)  Penile Diseases [MESH:D010409] (1805)   MORM syndrome [MESH:C536984] (15)  Prostatic Diseases [MESH:D011469] (6204)   Prostatic Neoplasms [MESH:D011471] (6135)   Prostate Cancer, Hereditary, 12 [MESH:C567510] (26)  Testicular Diseases [MESH:D013733] (451)   Cryptorchidism [MESH:D003456] (215)   Carnevale syndrome [MESH:C535586] (45)  Urogenital Abnormalities [MESH:D014564] (2065)   Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations [MESH:C567475] (12)  Cryptorchidism [MESH:D003456] (215)   Carnevale syndrome [MESH:C535586] (45)  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)   Persistent Mullerian duct syndrome [MESH:C536665] (47)  Gonadal Dysgenesis, 46,XY [MESH:D006061] (131)   46, XY Sex Reversal 5 [MESH:C567766] (19)  Adrenogenital Syndrome [MESH:D047808] (715)   Hyperandrogenism [MESH:D017588] (98)  Gonadal Dysgenesis [MESH:D006059] (492)   Gonadal Dysgenesis, 46,XY [MESH:D006061] (131)   46, XY Sex Reversal 5 [MESH:C567766] (19)  Urogenital Neoplasms [MESH:D014565] (6932)   Genital Neoplasms, Male [MESH:D005834] (6224)   Prostatic Neoplasms [MESH:D011471] (6135)   Prostate Cancer, Hereditary, 12 [MESH:C567510] (26)  Urologic Neoplasms [MESH:D014571] (5315)   Urinary Bladder Neoplasms [MESH:D001749] (4079)  Kidney Neoplasms [MESH:D007680] (3966)   Carcinoma, Renal Cell [MESH:D002292] (2975)  Wilms Tumor [MESH:D009396] (553)  Urologic Diseases [MESH:D014570] (7792)   Kidney Diseases [MESH:D007674] (7242)   Nephropathy with Pretibial Epidermolysis Bullosa and Deafness [MESH:C563798] (43)  Diabetic Nephropathies [MESH:D003928] (2301)  Hyperoxaluria [MESH:D006959] (1498)  Hypertension, Renal [MESH:D006977] (698)  Uremia [MESH:D014511] (2898)  Zellweger Syndrome [MESH:D015211] (182)  Diabetes Insipidus [MESH:D003919] (354)   Wolfram Syndrome [MESH:D014929] (37)  Kidney Diseases, Cystic [MESH:D052177] (1009)   Joubert syndrome 1 [MESH:C536293] (20)  Polycystic Kidney Diseases [MESH:D007690] (853)   Polycystic Kidney, Autosomal Recessive [MESH:D017044] (462)  Kidney Neoplasms [MESH:D007680] (3966)   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)  Nephrosis [MESH:D009401] (2228)   Nephrotic Syndrome [MESH:D009404] (1536)   Schimke immunoosseous dysplasia [MESH:C536629] (16)  Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type [MESH:C562683] (12)  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)   Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness [MESH:C562897] (11)  Glycosuria, Renal [MESH:D006030] (50)   Cataract, Juvenile, With Microcornea And Glucosuria [MESH:C567434] (26)  Renal Aminoacidurias [MESH:D000608] (95)   Cystinuria [MESH:D003555] (67)   Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)  Urinary Bladder Diseases [MESH:D001745] (4374)   Urinary Bladder Neoplasms [MESH:D001749] (4079)  Urination Disorders [MESH:D014555] (3598)   Glycosuria [MESH:D006029] (100)   Glycosuria, Renal [MESH:D006030] (50)   Cataract, Juvenile, With Microcornea And Glucosuria [MESH:C567434] (26)  Proteinuria [MESH:D011507] (3293)   Albuminuria [MESH:D000419] (2394) C13. Female Urogenital Diseases and Pregnancy Complications  C13. Female Urogenital Diseases and Pregnancy Complications  Z. Exceptions (1116)   Not Fully Specified [NFS] (1116)  Female Urogenital Diseases [MESH:D052776] (8724)   Genital Diseases, Female [MESH:D005831] (5563)   Endometriosis [MESH:D004715] (2461)  Adnexal Diseases [MESH:D000291] (4273)   Ovarian Diseases [MESH:D010049] (4255)   Ovarian Cysts [MESH:D010048] (2534)   Polycystic Ovary Syndrome [MESH:D011085] (2186)  Ovarian Neoplasms [MESH:D010051] (3281)   Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)  Infertility [MESH:D007246] (2211)   Infertility, Female [MESH:D007247] (2184)  Uterine Diseases [MESH:D014591] (2479)   McKusick Kaufman syndrome [MESH:C538159] (17)  Endometrial Hyperplasia [MESH:D004714] (263)  Uterine Neoplasms [MESH:D014594] (2430)   Endometrial Neoplasms [MESH:D016889] (1984)  Vaginal Diseases [MESH:D014623] (446)   Hydrocolpos [MESH:D052202] (18)   McKusick Kaufman syndrome [MESH:C538159] (17)  Urogenital Abnormalities [MESH:D014564] (2043)   Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations [MESH:C567475] (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)   Persistent Mullerian duct syndrome [MESH:C536665] (47)  Gonadal Dysgenesis, 46,XY [MESH:D006061] (131)   46, XY Sex Reversal 5 [MESH:C567766] (19)  Adrenogenital Syndrome [MESH:D047808] (715)   Hyperandrogenism [MESH:D017588] (98)  Gonadal Dysgenesis [MESH:D006059] (492)   Gonadal Dysgenesis, 46,XY [MESH:D006061] (131)   46, XY Sex Reversal 5 [MESH:C567766] (19)  Urogenital Neoplasms [MESH:D014565] (5792)   Genital Neoplasms, Female [MESH:D005833] (3810)   Ovarian Neoplasms [MESH:D010051] (3281)   Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)  Uterine Neoplasms [MESH:D014594] (2433)   Endometrial Neoplasms [MESH:D016889] (1989)  Urologic Neoplasms [MESH:D014571] (5315)   Urinary Bladder Neoplasms [MESH:D001749] (4079)  Kidney Neoplasms [MESH:D007680] (3966)   Carcinoma, Renal Cell [MESH:D002292] (2975)  Wilms Tumor [MESH:D009396] (553)  Urologic Diseases [MESH:D014570] (7793)   Kidney Diseases [MESH:D007674] (7242)   Nephropathy with Pretibial Epidermolysis Bullosa and Deafness [MESH:C563798] (43)  Diabetic Nephropathies [MESH:D003928] (2301)  Hyperoxaluria [MESH:D006959] (1498)  Hypertension, Renal [MESH:D006977] (698)  Uremia [MESH:D014511] (2898)  Zellweger Syndrome [MESH:D015211] (182)  Diabetes Insipidus [MESH:D003919] (354)   Wolfram Syndrome [MESH:D014929] (37)  Kidney Diseases, Cystic [MESH:D052177] (1009)   Joubert syndrome 1 [MESH:C536293] (20)  Polycystic Kidney Diseases [MESH:D007690] (853)   Polycystic Kidney, Autosomal Recessive [MESH:D017044] (462)  Kidney Neoplasms [MESH:D007680] (3966)   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)  Nephrosis [MESH:D009401] (2228)   Nephrotic Syndrome [MESH:D009404] (1536)   Schimke immunoosseous dysplasia [MESH:C536629] (16)  Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type [MESH:C562683] (12)  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)   Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness [MESH:C562897] (11)  Glycosuria, Renal [MESH:D006030] (50)   Cataract, Juvenile, With Microcornea And Glucosuria [MESH:C567434] (26)  Renal Aminoacidurias [MESH:D000608] (95)   Cystinuria [MESH:D003555] (67)   Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)  Urinary Bladder Diseases [MESH:D001745] (4375)   Urinary Bladder Neoplasms [MESH:D001749] (4079)  Urination Disorders [MESH:D014555] (3598)   Glycosuria [MESH:D006029] (100)   Glycosuria, Renal [MESH:D006030] (50)   Cataract, Juvenile, With Microcornea And Glucosuria [MESH:C567434] (26)  Proteinuria [MESH:D011507] (3293)   Albuminuria [MESH:D000419] (2394)  Pregnancy Complications [MESH:D011248] (4768)   Abortion, Spontaneous [MESH:D000022] (2780)  Fetal Death [MESH:D005313] (464)  Polyhydramnios [MESH:D006831] (123)   Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy [MESH:C567020] (21)  Prenatal Injuries [MESH:D049188] (1314)   Prenatal Exposure Delayed Effects [MESH:D011297] (870) C14. Cardiovascular Diseases  C14. Cardiovascular Diseases  Z. Exceptions (2667)   Not Fully Specified [NFS] (2667)  Cardiovascular Diseases [MESH:D002318] (10123)   Cardiovascular Abnormalities [MESH:D018376] (3153)   Heart Defects, Congenital [MESH:D006330] (2447)   Cardiofaciocutaneous syndrome [MESH:C535579] (407)  Malpuech facial clefting syndrome [MESH:C535704] (45)  Heart-hand syndrome, Slovenian type [MESH:C535852] (77)  VACTERL hydrocephaly [MESH:C536521] (151)  McKusick Kaufman syndrome [MESH:C538159] (17)  LEOPARD Syndrome [MESH:D044542] (299)  Noonan Syndrome [MESH:D009634] (506)  Arrhythmogenic Right Ventricular Dysplasia [MESH:D019571] (241)   Naxos disease [MESH:C538346] (51)  Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 [MESH:C566925] (51)  Heart Septal Defects [MESH:D006343] (385)   Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome [MESH:C565249] (17)  Heterotaxy Syndrome [MESH:D059446] (84)   Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome [MESH:C565249] (17)  Vascular Malformations [MESH:D054079] (1098)   Central Nervous System Vascular Malformations [MESH:D020785] (1031)   Hemangioma, Cavernous, Central Nervous System [MESH:D020786] (35)  Heart Diseases [MESH:D006331] (8614)   Heart Failure [MESH:D006333] (4058)  Arrhythmias, Cardiac [MESH:D001145] (4679)   Atrial Fibrillation [MESH:D001281] (1053)  Bradycardia [MESH:D001919] (1899)  Long QT Syndrome [MESH:D008133] (693)  Ventricular Fibrillation [MESH:D014693] (624)  Heart Block [MESH:D006327] (571)   Sinoatrial Block [MESH:D012848] (95)  Tachycardia [MESH:D013610] (3339)   Tachycardia, Ventricular [MESH:D017180] (1386)  Cardiomegaly [MESH:D006332] (4081)   Hypertrophy, Left Ventricular [MESH:D017379] (1430)  Cardiomyopathy, Dilated [MESH:D002311] (1576)   Cardiomyopathy, Dilated, 1x [MESH:C566907] (9)  Cardiomyopathy, Dilated, 1w [MESH:C566954] (66)  Cardiomyopathies [MESH:D009202] (5331)   Myocardial Reperfusion Injury [MESH:D015428] (3500)  Arrhythmogenic Right Ventricular Dysplasia [MESH:D019571] (241)   Naxos disease [MESH:C538346] (51)  Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 [MESH:C566925] (51)  Cardiomyopathy, Dilated [MESH:D002311] (1576)   Cardiomyopathy, Dilated, 1x [MESH:C566907] (9)  Cardiomyopathy, Dilated, 1w [MESH:C566954] (66)  Cardiomyopathy, Hypertrophic [MESH:D002312] (1516)   Cardiomyopathy, Hypertrophic, Familial [MESH:D024741] (339)   Cardiomyopathy, Familial Hypertrophic, 15 [MESH:C567681] (66)  Heart Arrest [MESH:D006323] (1926)   Death, Sudden, Cardiac [MESH:D016757] (168)  Heart Defects, Congenital [MESH:D006330] (2443)   Cardiofaciocutaneous syndrome [MESH:C535579] (407)  Malpuech facial clefting syndrome [MESH:C535704] (45)  Heart-hand syndrome, Slovenian type [MESH:C535852] (77)  VACTERL hydrocephaly [MESH:C536521] (151)  McKusick Kaufman syndrome [MESH:C538159] (17)  LEOPARD Syndrome [MESH:D044542] (299)  Noonan Syndrome [MESH:D009634] (506)  Arrhythmogenic Right Ventricular Dysplasia [MESH:D019571] (241)   Naxos disease [MESH:C538346] (51)  Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 [MESH:C566925] (51)  Heart Septal Defects [MESH:D006343] (385)   Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome [MESH:C565249] (17)  Heterotaxy Syndrome [MESH:D059446] (84)   Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome [MESH:C565249] (17)  Heart Valve Diseases [MESH:D006349] (3333)   Aortic Valve Stenosis [MESH:D001024] (1742)   Aortic Valve, Calcification of [MESH:C562942] (655)  Aortic Stenosis, Subvalvular [MESH:D001020] (1455)   Cardiomyopathy, Hypertrophic [MESH:D002312] (1451)  Aortic Stenosis, Supravalvular [MESH:D021921] (135)   Williams Syndrome [MESH:D018980] (133)  Pulmonary Valve Stenosis [MESH:D011666] (360)   LEOPARD Syndrome [MESH:D044542] (299)  Myocardial Ischemia [MESH:D017202] (5787)   Acute Coronary Syndrome [MESH:D054058] (2286)  Myocardial Infarction [MESH:D009203] (4122)  Myocardial Reperfusion Injury [MESH:D015428] (3500)  Angina Pectoris [MESH:D000787] (2575)   Acute Coronary Syndrome [MESH:D054058] (2286)  Angina, Unstable [MESH:D000789] (782)  Coronary Disease [MESH:D003327] (3439)   Coronary Artery Disease [MESH:D003324] (2685)  Ventricular Outflow Obstruction [MESH:D014694] (976)   Aortic Valve Stenosis [MESH:D001024] (810)   Aortic Valve, Calcification of [MESH:C562942] (655)  Vascular Diseases [MESH:D014652] (8691)   Hyperemia [MESH:D006940] (2372)  Hypotension [MESH:D007022] (4045)  Pulmonary Veno-Occlusive Disease [MESH:D011668] (55)  Varicose Veins [MESH:D014648] (383)  Vascular System Injuries [MESH:D057772] (2086)  Aneurysm [MESH:D000783] (1886)   Aortic Aneurysm [MESH:D001014] (1721)   Aortic Aneurysm, Thoracic [MESH:D017545] (781)   Aortic Aneurysm, Familial Thoracic 6 [MESH:C567085] (221)  Angiomatosis [MESH:D000798] (620)   Sturge-Weber Syndrome [MESH:D013341] (76)  von Hippel-Lindau Disease [MESH:D006623] (580)  Aortic Diseases [MESH:D001018] (1737)   Aortic Aneurysm [MESH:D001014] (1721)   Aortic Aneurysm, Thoracic [MESH:D017545] (781)   Aortic Aneurysm, Familial Thoracic 6 [MESH:C567085] (221)  Arterial Occlusive Diseases [MESH:D001157] (4520)   Arteriosclerosis [MESH:D001161] (4466)   Schimke immunoosseous dysplasia [MESH:C536629] (16)  Atherosclerosis [MESH:D050197] (4188)  Coronary Artery Disease [MESH:D003324] (2685)  Cerebrovascular Disorders [MESH:D002561] (5541)   Carotid Artery Diseases [MESH:D002340] (1993)  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)   MELAS Syndrome [MESH:D017241] (1061)   Myopathy with lactic acidosis and sideroblastic anemia [MESH:C536101] (35)  Intracranial Arterial Diseases [MESH:D020765] (2468)   Cerebral Arterial Diseases [MESH:D002539] (2440)   Infarction, Middle Cerebral Artery [MESH:D020244] (2268)  Intracranial Hemorrhages [MESH:D020300] (3269)   Cerebral Hemorrhage [MESH:D002543] (2873)  Stroke [MESH:D020521] (3702)   Brain Infarction [MESH:D020520] (2571)   Cerebral Infarction [MESH:D002544] (2458)   Infarction, Middle Cerebral Artery [MESH:D020244] (2268)  Embolism and Thrombosis [MESH:D016769] (3374)   Thrombosis [MESH:D013927] (3101)  Embolism [MESH:D004617] (1137)   Pulmonary Embolism [MESH:D011655] (1118)   Schimke immunoosseous dysplasia [MESH:C536629] (16)  Hemostatic Disorders [MESH:D020141] (2894)   Multiple Myeloma [MESH:D009101] (2765)  Pseudoxanthoma Elasticum [MESH:D011561] (115)  Ehlers-Danlos Syndrome [MESH:D004535] (491)   Ehlers-Danlos syndrome type 1 [MESH:C536194] (344)  Ehlers-Danlos syndrome type 2 [MESH:C536195] (55)  Hemangioma, Cavernous [MESH:D006392] (38)   Hemangioma, Cavernous, Central Nervous System [MESH:D020786] (35)  Hypertension [MESH:D006973] (5655)   Hypertension, Essential [MESH:C562386] (1308)  Hypertension, Renal [MESH:D006977] (698)  Myocardial Ischemia [MESH:D017202] (5791)   Acute Coronary Syndrome [MESH:D054058] (2286)  Myocardial Reperfusion Injury [MESH:D015428] (3500)  Angina Pectoris [MESH:D000787] (2575)   Acute Coronary Syndrome [MESH:D054058] (2286)  Angina, Unstable [MESH:D000789] (782)  Coronary Disease [MESH:D003327] (3439)   Coronary Artery Disease [MESH:D003324] (2685)  Myocardial Infarction [MESH:D009203] (4151)   No-Reflow Phenomenon [MESH:D054318] (277)  Peripheral Vascular Diseases [MESH:D016491] (1412)   Livedo Reticularis [MESH:D054068] (228)   Aortic Aneurysm, Familial Thoracic 6 [MESH:C567085] (221)  Raynaud Disease [MESH:D011928] (490)   Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps [MESH:C567088] (77)  Reperfusion Injury [MESH:D015427] (4968)   Myocardial Reperfusion Injury [MESH:D015428] (3500)  Telangiectasis [MESH:D013684] (255)   Ataxia Telangiectasia [MESH:D001260] (142)   Early-onset ataxia with oculomotor apraxia and hypoalbuminemia [MESH:C538013] (18)  Vasculitis [MESH:D014657] (2604)   Behcet Syndrome [MESH:D001528] (1784) C15. Hemic and Lymphatic Diseases  C15. Hemic and Lymphatic Diseases  Hematologic Diseases [MESH:D006402] (6174)   Blood Coagulation Disorders [MESH:D001778] (1828)  Anemia [MESH:D000740] (3966)   Anemia, Aplastic [MESH:D000741] (1925)   Anemia, Hypoplastic, Congenital [MESH:D029502] (1665)   Fanconi Anemia [MESH:D005199] (1604)   Fanconi Anemia, Complementation Group I [MESH:C563802] (34)  Anemia, Hemolytic [MESH:D000743] (3083)   Adenylate Kinase Deficiency, Hemolytic Anemia Due To [MESH:C567228] (45)  Anemia, Hemolytic, Congenital [MESH:D000745] (2001)   Anemia, Sickle Cell [MESH:D000755] (1722)  Thalassemia [MESH:D013789] (501)   beta-Thalassemia [MESH:D017086] (458)  Anemia, Hypochromic [MESH:D000747] (616)   Anemia, Iron-Deficiency [MESH:D018798] (547)  Anemia, Sideroblastic [MESH:D000756] (636)   Anemia, Hypochromic Microcytic, With Iron Overload [MESH:C567144] (85)  Blood Platelet Disorders [MESH:D001791] (3174)   Thrombocytopenia [MESH:D013921] (2966)   MYH9-Related Disorders [MESH:C535507] (46)  Macrothrombocytopenia progressive deafness [MESH:C537831] (46)  Blood Protein Disorders [MESH:D001796] (3051)   Hypergammaglobulinemia [MESH:D006942] (137)  Agammaglobulinemia [MESH:D000361] (156)   Severe combined immunodeficiency due to adenosine deaminase deficiency [MESH:C531816] (67)  Dysgammaglobulinemia [MESH:D004406] (67)   IgA Deficiency [MESH:D017098] (45)  Hypoproteinemia [MESH:D007019] (1335)   Hypoalbuminemia [MESH:D034141] (1332)   Early-onset ataxia with oculomotor apraxia and hypoalbuminemia [MESH:C538013] (18)  Paraproteinemias [MESH:D010265] (2781)   Multiple Myeloma [MESH:D009101] (2765)  Bone Marrow Diseases [MESH:D001855] (2944)   Anemia, Aplastic [MESH:D000741] (1925)   Anemia, Hypoplastic, Congenital [MESH:D029502] (1665)   Fanconi Anemia [MESH:D005199] (1604)   Fanconi Anemia, Complementation Group I [MESH:C563802] (34)  Myelodysplastic-Myeloproliferative Diseases [MESH:D054437] (376)   Leukemia, Myelomonocytic, Juvenile [MESH:D054429] (344)  Myelodysplastic Syndromes [MESH:D009190] (2093)   Anemia, Sideroblastic [MESH:D000756] (636)   Anemia, Hypochromic Microcytic, With Iron Overload [MESH:C567144] (85)  Myeloproliferative Disorders [MESH:D009196] (1492)   Myeloproliferative Disorder, Chronic, with Eosinophilia [MESH:C565054] (134)  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)   Hemostatic Disorders [MESH:D020141] (2932)   Multiple Myeloma [MESH:D009101] (2765)  Pseudoxanthoma Elasticum [MESH:D011561] (115)  Ehlers-Danlos Syndrome [MESH:D004535] (491)   Ehlers-Danlos syndrome type 1 [MESH:C536194] (344)  Ehlers-Danlos syndrome type 2 [MESH:C536195] (55)  Hemangioma, Cavernous [MESH:D006392] (38)   Hemangioma, Cavernous, Central Nervous System [MESH:D020786] (35)  Leukocyte Disorders [MESH:D007960] (2662)   Eosinophilia [MESH:D004802] (537)   Myeloproliferative Disorder, Chronic, with Eosinophilia [MESH:C565054] (134)  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)  Methemoglobinemia [MESH:D008708] (850)   Methemoglobinemia Type IV [MESH:C567102] (48)  Polycythemia [MESH:D011086] (412)   Erythrocytosis, Familial, 2 [MESH:C563918] (39)  Erythrocytosis, Familial, 4 [MESH:C567086] (86)  Lymphatic Diseases [MESH:D008206] (5167)   Histiocytosis [MESH:D015614] (336)   Histiocytosis, Non-Langerhans-Cell [MESH:D015616] (315)   Niemann-Pick Diseases [MESH:D009542] (136)   Niemann-Pick Disease, Type C [MESH:D052556] (103)  Lymphoproliferative Disorders [MESH:D008232] (4638)   Agammaglobulinemia [MESH:D000361] (156)   Severe combined immunodeficiency due to adenosine deaminase deficiency [MESH:C531816] (67)  Leukemia, Lymphoid [MESH:D007945] (3047)   Leukemia, B-Cell [MESH:D015448] (2564)   Leukemia, Lymphocytic, Chronic, B-Cell [MESH:D015451] (2562)  Leukemia, T-Cell [MESH:D015458] (395)   Leukemia-Lymphoma, Adult T-Cell [MESH:D015459] (138)  Precursor Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054198] (1754)   Precursor B-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D015452] (354)  Lymphoma [MESH:D008223] (3684)   Hodgkin Disease [MESH:D006689] (1082)  Lymphoma, Non-Hodgkin [MESH:D008228] (3330)   Burkitt Lymphoma [MESH:D002051] (691)  Lymphoma, Follicular [MESH:D008224] (1025)  Lymphoma, Large-Cell, Anaplastic [MESH:D017728] (420)  Lymphoma, Mantle-Cell [MESH:D020522] (561)  Lymphoma, B-Cell [MESH:D016393] (2624)   Burkitt Lymphoma [MESH:D002051] (691)  Lymphoma, Large B-Cell, Diffuse [MESH:D016403] (2012)  Lymphoma, T-Cell [MESH:D016399] (1204)   Lymphoma, T-Cell, Cutaneous [MESH:D016410] (912)  Splenic Diseases [MESH:D013158] (1323)   Heterotaxy Syndrome [MESH:D059446] (84)   Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome [MESH:C565249] (17) 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)   Caudal Duplication Anomaly [MESH:C564315] (29)  Abnormalities, Drug-Induced [MESH:D000014] (1024)  Abnormalities, Multiple [MESH:D000015] (3192)   Malpuech facial clefting syndrome [MESH:C535704] (45)  MORM syndrome [MESH:C536984] (15)  McKusick Kaufman syndrome [MESH:C538159] (17)  Beta-Hydroxyisobutyryl CoA Deacylase Deficiency [MESH:C562803] (33)  Bardet-Biedl Syndrome [MESH:D020788] (110)  Beckwith-Wiedemann Syndrome [MESH:D001506] (193)  Bloom Syndrome [MESH:D001816] (107)  Costello Syndrome [MESH:D056685] (407)  Down Syndrome [MESH:D004314] (1287)  Fraser Syndrome [MESH:D058497] (29)  LEOPARD Syndrome [MESH:D044542] (299)  Proteus Syndrome [MESH:D016715] (152)  Silver-Russell Syndrome [MESH:D056730] (142)  Wolfram Syndrome [MESH:D014929] (37)  Zellweger Syndrome [MESH:D015211] (182)  Deaf-Blind Disorders [MESH:D054062] (132)   Wolfram Syndrome [MESH:D014929] (37)  Ectodermal Dysplasia [MESH:D004476] (938)   Cardiofaciocutaneous syndrome [MESH:C535579] (407)  Heterotaxy Syndrome [MESH:D059446] (84)   Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome [MESH:C565249] (17)  Holoprosencephaly [MESH:D016142] (218)   Holoprosencephaly 4 [MESH:C564180] (70)  Smith-Magenis Syndrome [MESH:D058496] (19)   Potocki-Lupski syndrome [MESH:C538355] (17)  Cardiovascular Abnormalities [MESH:D018376] (3294)   Heart Defects, Congenital [MESH:D006330] (2611)   Cardiofaciocutaneous syndrome [MESH:C535579] (407)  Malpuech facial clefting syndrome [MESH:C535704] (45)  Heart-hand syndrome, Slovenian type [MESH:C535852] (77)  VACTERL hydrocephaly [MESH:C536521] (151)  McKusick Kaufman syndrome [MESH:C538159] (17)  LEOPARD Syndrome [MESH:D044542] (299)  Long QT Syndrome [MESH:D008133] (693)  Noonan Syndrome [MESH:D009634] (506)  Arrhythmogenic Right Ventricular Dysplasia [MESH:D019571] (241)   Naxos disease [MESH:C538346] (51)  Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 [MESH:C566925] (51)  Heart Septal Defects [MESH:D006343] (385)   Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome [MESH:C565249] (17)  Heterotaxy Syndrome [MESH:D059446] (84)   Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome [MESH:C565249] (17)  Chromosome Disorders [MESH:D025063] (2030)   Mental Retardation, Fra12a Type [MESH:C566980] (15)  Beckwith-Wiedemann Syndrome [MESH:D001506] (193)  Down Syndrome [MESH:D004314] (1287)  Silver-Russell Syndrome [MESH:D056730] (142)  Williams Syndrome [MESH:D018980] (133)  Holoprosencephaly [MESH:D016142] (218)   Holoprosencephaly 4 [MESH:C564180] (70)  Smith-Magenis Syndrome [MESH:D058496] (19)   Potocki-Lupski syndrome [MESH:C538355] (17)  Digestive System Abnormalities [MESH:D004065] (507)   Hirschsprung Disease [MESH:D006627] (361)  Eye Abnormalities [MESH:D005124] (1233)   Joubert syndrome 1 [MESH:C536293] (20)  Oculopalatoskeletal syndrome [MESH:C537738] (45)  Coloboma [MESH:D003103] (315)  Fraser Syndrome [MESH:D058497] (29)  Microphthalmos [MESH:D008850] (273)   Microphthalmia, syndromic 7 [MESH:C537466] (18)  Musculoskeletal Abnormalities [MESH:D009139] (3779)   Arthrogryposis [MESH:D001176] (329)   Lethal congenital contracture syndrome 1 [MESH:C537194] (14)  Lethal Arthrogryposis With Anterior Horn Cell Disease [MESH:C567502] (14)  Craniofacial Abnormalities [MESH:D019465] (3064)   Malpuech facial clefting syndrome [MESH:C535704] (45)  Van Buchem disease type 2 [MESH:C536527] (30)  Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)  LEOPARD Syndrome [MESH:D044542] (299)  Noonan Syndrome [MESH:D009634] (506)  Craniofacial Dysostosis [MESH:D003394] (391)   Mandibulofacial Dysostosis [MESH:D008342] (63)  Hypertelorism [MESH:D006972] (109)   Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations [MESH:C567475] (12)  Craniosynostoses [MESH:D003398] (438)   Bohring syndrome [MESH:C537419] (26)  Oculopalatoskeletal syndrome [MESH:C537738] (45)  Acrocephalosyndactylia [MESH:D000168] (201)   Acrocephalopolysyndactyly Type II [MESH:C563187] (27)  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)  Micrognathism [MESH:D008844] (230)   Meier-Gorlin syndrome [MESH:C538012] (133)  Cerebral Cavernous Malformations 3 [MESH:C566393] (27)  Microcephaly [MESH:D008831] (700)   Oculodigitoesophagoduodenal syndrome [MESH:C537734] (58)  Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83)  Nijmegen Breakage Syndrome-Like Disorder [MESH:C567767] (76)  Plagiocephaly [MESH:D059041] (440)   Craniosynostoses [MESH:D003398] (438)   Bohring syndrome [MESH:C537419] (26)  Oculopalatoskeletal syndrome [MESH:C537738] (45)  Acrocephalosyndactylia [MESH:D000168] (201)   Acrocephalopolysyndactyly Type II [MESH:C563187] (27)  Hip Dislocation, Congenital [MESH:D006618] (56)   Carnevale syndrome [MESH:C535586] (45)  Limb Deformities, Congenital [MESH:D017880] (1813)   Acromicric dysplasia [MESH:C535662] (520)  VACTERL hydrocephaly [MESH:C536521] (151)  Oculodigitoesophagoduodenal syndrome [MESH:C537734] (58)  Proteus Syndrome [MESH:D016715] (152)  Foot Deformities, Congenital [MESH:D005532] (538)   Acheiropodia [MESH:C536014] (13)  Hand Deformities, Congenital [MESH:D006228] (587)   Heart-hand syndrome, Slovenian type [MESH:C535852] (77)  Acheiropodia [MESH:C536014] (13)  Polydactyly [MESH:D017689] (318)   McKusick Kaufman syndrome [MESH:C538159] (17)  Syndactyly, Type IV [MESH:C566092] (13)  Syndactyly [MESH:D013576] (487)   Syndactyly, Type IV [MESH:C566092] (13)  Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations [MESH:C567475] (12)  Acrocephalosyndactylia [MESH:D000168] (201)   Acrocephalopolysyndactyly Type II [MESH:C563187] (27)  Synostosis [MESH:D013580] (817)   Craniosynostoses [MESH:D003398] (438)   Bohring syndrome [MESH:C537419] (26)  Oculopalatoskeletal syndrome [MESH:C537738] (45)  Acrocephalosyndactylia [MESH:D000168] (201)   Acrocephalopolysyndactyly Type II [MESH:C563187] (27)  Syndactyly [MESH:D013576] (487)   Syndactyly, Type IV [MESH:C566092] (13)  Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations [MESH:C567475] (12)  Acrocephalosyndactylia [MESH:D000168] (201)   Acrocephalopolysyndactyly Type II [MESH:C563187] (27)  Nervous System Malformations [MESH:D009421] (3354)   Aicardi-Goutieres syndrome [MESH:C535607] (57)  Dandy-Walker Syndrome [MESH:D003616] (50)  Agenesis of Corpus Callosum [MESH:D061085] (345)   Holoprosencephaly [MESH:D016142] (218)   Holoprosencephaly 4 [MESH:C564180] (70)  Central Nervous System Vascular Malformations [MESH:D020785] (1031)   Hemangioma, Cavernous, Central Nervous System [MESH:D020786] (35)  Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899)   Slowed Nerve Conduction Velocity, Autosomal Dominant [MESH:C564269] (12)  Refsum Disease [MESH:D012035] (173)  Charcot-Marie-Tooth Disease [MESH:D002607] (627)   Charcot-Marie-Tooth disease, Type 2F [MESH:C535413] (219)  Charcot-Marie-Tooth disease, Type 1F [MESH:C537987] (89)  Charcot-Marie-Tooth disease, Type 2B1 [MESH:C537990] (77)  Charcot-Marie-Tooth disease, Type 2E [MESH:C537994] (89)  Spastic Paraplegia, Hereditary [MESH:D015419] (449)   Spastic paraplegia 15, autosomal recessive [MESH:C536642] (16)  Spastic paraplegia 4, autosomal dominant [MESH:C536865] (21)  Spastic paraplegia 6, autosomal dominant [MESH:C536866] (12)  Spastic paraplegia 11, autosomal recessive [MESH:C537483] (8)  Spastic paraplegia 13, autosomal dominant [MESH:C537485] (178)  Spastic Paraplegia 7, Autosomal Recessive [MESH:C564599] (23)  Holoprosencephaly [MESH:D016142] (218)   Holoprosencephaly 4 [MESH:C564180] (70)  Malformations of Cortical Development [MESH:D054220] (1406)   Cortical Dysplasia-Focal Epilepsy Syndrome [MESH:C566482] (24)  Lissencephaly [MESH:D054082] (218)   Classical Lissencephalies and Subcortical Band Heterotopias [MESH:D054221] (114)  Cobblestone Lissencephaly [MESH:D054222] (37)   Walker-Warburg Syndrome [MESH:D058494] (36)  Macrocephaly [MESH:D058627] (264)   Macrocephaly Autism Syndrome [MESH:C565342] (151)  Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy [MESH:C567020] (21)  Microcephaly [MESH:D008831] (700)   Oculodigitoesophagoduodenal syndrome [MESH:C537734] (58)  Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83)  Nijmegen Breakage Syndrome-Like Disorder [MESH:C567767] (76)  Neuronal Migration Disorders [MESH:D054081] (264)   Classical Lissencephalies and Subcortical Band Heterotopias [MESH:D054221] (114)  Neural Tube Defects [MESH:D009436] (2143)   Arnold-Chiari Malformation [MESH:D001139] (28)  Spinal Dysraphism [MESH:D016135] (1025)  Skin Abnormalities [MESH:D012868] (1723)   Tight skin contracture syndrome, lethal [MESH:C536920] (84)  Microphthalmia, syndromic 7 [MESH:C537466] (18)  Port-Wine Stain [MESH:D019339] (86)  Pseudoxanthoma Elasticum [MESH:D011561] (115)  Ectodermal Dysplasia [MESH:D004476] (958)   Cardiofaciocutaneous syndrome [MESH:C535579] (407)  Ehlers-Danlos Syndrome [MESH:D004535] (491)   Ehlers-Danlos syndrome type 1 [MESH:C536194] (344)  Ehlers-Danlos syndrome type 2 [MESH:C536195] (55)  Epidermolysis Bullosa [MESH:D004820] (260)   Nephropathy with Pretibial Epidermolysis Bullosa and Deafness [MESH:C563798] (43)  Ichthyosis [MESH:D007057] (481)   Sjogren-Larsson Syndrome [MESH:D016111] (67)  Xeroderma Pigmentosum [MESH:D014983] (213)   Xeroderma Pigmentosum, Complementation Group B [MESH:C562590] (31)  Stomatognathic System Abnormalities [MESH:D018640] (1705)   Maxillofacial Abnormalities [MESH:D019767] (1447)   Jaw Abnormalities [MESH:D007569] (1438)   Cleft Palate [MESH:D002972] (1330)  Micrognathism [MESH:D008844] (230)   Meier-Gorlin syndrome [MESH:C538012] (133)  Cerebral Cavernous Malformations 3 [MESH:C566393] (27)  Mouth Abnormalities [MESH:D009056] (1383)   Cleft Lip [MESH:D002971] (914)  Cleft Palate [MESH:D002972] (1330)  Macrostomia [MESH:D008265] (38)  Tooth Abnormalities [MESH:D014071] (622)   Tooth Agenesis, Selective, 6 [MESH:C567755] (19)  Urogenital Abnormalities [MESH:D014564] (2064)   Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations [MESH:C567475] (12)  Cryptorchidism [MESH:D003456] (215)   Carnevale syndrome [MESH:C535586] (45)  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)   Persistent Mullerian duct syndrome [MESH:C536665] (47)  Gonadal Dysgenesis, 46,XY [MESH:D006061] (131)   46, XY Sex Reversal 5 [MESH:C567766] (19)  Adrenogenital Syndrome [MESH:D047808] (715)   Hyperandrogenism [MESH:D017588] (98)  Gonadal Dysgenesis [MESH:D006059] (492)   Gonadal Dysgenesis, 46,XY [MESH:D006061] (131)   46, XY Sex Reversal 5 [MESH:C567766] (19)  Genetic Diseases, Inborn [MESH:D030342] (9766)   Costello Syndrome [MESH:D056685] (407)  Cystic Fibrosis [MESH:D003550] (760)  Polycystic Kidney, Autosomal Recessive [MESH:D017044] (462)  Werner Syndrome [MESH:D014898] (88)  Anemia, Hemolytic, Congenital [MESH:D000745] (2001)   Anemia, Sickle Cell [MESH:D000755] (1722)  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)  Ataxia Telangiectasia [MESH:D001260] (142)   Early-onset ataxia with oculomotor apraxia and hypoalbuminemia [MESH:C538013] (18)  Cardiomyopathy, Hypertrophic, Familial [MESH:D024741] (339)   Cardiomyopathy, Familial Hypertrophic, 15 [MESH:C567681] (66)  Chromosome Disorders [MESH:D025063] (2030)   Mental Retardation, Fra12a Type [MESH:C566980] (15)  Beckwith-Wiedemann Syndrome [MESH:D001506] (193)  Down Syndrome [MESH:D004314] (1287)  Silver-Russell Syndrome [MESH:D056730] (142)  Williams Syndrome [MESH:D018980] (133)  Holoprosencephaly [MESH:D016142] (218)   Holoprosencephaly 4 [MESH:C564180] (70)  Smith-Magenis Syndrome [MESH:D058496] (19)   Potocki-Lupski syndrome [MESH:C538355] (17)  Dwarfism [MESH:D004392] (783)   Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type [MESH:C564794] (29)  Silver-Russell Syndrome [MESH:D056730] (142)  Achondroplasia [MESH:D000130] (196)   Achondrogenesis type 1A [MESH:C536015] (16)  Eye Diseases, Hereditary [MESH:D015785] (1867)   Fibrosis Of Extraocular Muscles, Congenital, 2 [MESH:C566587] (18)  Choroideremia [MESH:D015794] (18)  Corneal Dystrophies, Hereditary [MESH:D003317] (341)   Bietti Crystalline Dystrophy [MESH:C535440] (13)  Corneal Dystrophy, Congenital Stromal [MESH:C566452] (90)  Optic Atrophies, Hereditary [MESH:D015418] (1151)   Wolfram Syndrome [MESH:D014929] (37)  Retinitis Pigmentosa [MESH:D012174] (442)   Retinitis Pigmentosa 33 [MESH:C563676] (20)  Retinitis Pigmentosa 13 [MESH:C564008] (30)  Retinitis Pigmentosa 9 [MESH:C566716] (13)  Retinitis Pigmentosa 42 [MESH:C567854] (27)  Genetic Diseases, X-Linked [MESH:D040181] (3028)   Microphthalmia, syndromic 7 [MESH:C537466] (18)  Brunner Syndrome [MESH:C563156] (124)  Surfactant Metabolism Dysfunction, Pulmonary, 4 [MESH:C567461] (30)  Choroideremia [MESH:D015794] (18)  Muscular Dystrophy, Emery-Dreifuss [MESH:D020389] (169)  Pelizaeus-Merzbacher Disease [MESH:D020371] (103)  Mental Retardation, X-Linked [MESH:D038901] (1867)   Creatine deficiency, X-linked [MESH:C535598] (58)  Mental Retardation, X-Linked 58 [MESH:C564566] (32)  Mental Retardation, X-Linked, Syndromic 14 [MESH:C567063] (30)  Classical Lissencephalies and Subcortical Band Heterotopias [MESH:D054221] (114)  Mucopolysaccharidosis II [MESH:D016532] (26)  Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)   Pyruvate Dehydrogenase E2 Deficiency [MESH:C565448] (44)  Hemoglobinopathies [MESH:D006453] (1863)   Anemia, Sickle Cell [MESH:D000755] (1722)  Thalassemia [MESH:D013789] (511)   beta-Thalassemia [MESH:D017086] (458)  Hereditary Autoinflammatory Diseases [MESH:D056660] (272)   Periodic fever, familial, autosomal dominant [MESH:C536657] (177)  Heredodegenerative Disorders, Nervous System [MESH:D020271] (3465)   Huntington Disease-Like 2 [MESH:C564708] (14)  Huntington Disease [MESH:D006816] (540)  Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (241)   Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178)  Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899)   Slowed Nerve Conduction Velocity, Autosomal Dominant [MESH:C564269] (12)  Refsum Disease [MESH:D012035] (173)  Charcot-Marie-Tooth Disease [MESH:D002607] (627)   Charcot-Marie-Tooth disease, Type 2F [MESH:C535413] (219)  Charcot-Marie-Tooth disease, Type 1F [MESH:C537987] (89)  Charcot-Marie-Tooth disease, Type 2B1 [MESH:C537990] (77)  Charcot-Marie-Tooth disease, Type 2E [MESH:C537994] (89)  Spastic Paraplegia, Hereditary [MESH:D015419] (449)   Spastic paraplegia 15, autosomal recessive [MESH:C536642] (16)  Spastic paraplegia 4, autosomal dominant [MESH:C536865] (21)  Spastic paraplegia 6, autosomal dominant [MESH:C536866] (12)  Spastic paraplegia 11, autosomal recessive [MESH:C537483] (8)  Spastic paraplegia 13, autosomal dominant [MESH:C537485] (178)  Spastic Paraplegia 7, Autosomal Recessive [MESH:C564599] (23)  Mental Retardation, X-Linked [MESH:D038901] (1848)   Creatine deficiency, X-linked [MESH:C535598] (58)  Mental Retardation, X-Linked 58 [MESH:C564566] (32)  Mental Retardation, X-Linked, Syndromic 14 [MESH:C567063] (30)  Mucopolysaccharidosis II [MESH:D016532] (26)  Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)   Pyruvate Dehydrogenase E2 Deficiency [MESH:C565448] (44)  Neuronal Ceroid-Lipofuscinoses [MESH:D009472] (1026)   Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)  Optic Atrophies, Hereditary [MESH:D015418] (1151)   Wolfram Syndrome [MESH:D014929] (37)  Spinocerebellar Degenerations [MESH:D013132] (449)   Spinocerebellar ataxia 28 [MESH:C537205] (13)  Spinocerebellar Ataxias [MESH:D020754] (322)  Olivopontocerebellar Atrophies [MESH:D009849] (49)   Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31)  Metabolism, Inborn Errors [MESH:D008661] (6032)   3-Hydroxyacyl-CoA Dehydrogenase Deficiency [MESH:C535310] (80)  Hypoproteinemia, Hypercatabolic [MESH:C565476] (99)  Progeria [MESH:D011371] (105)  Amino Acid Metabolism, Inborn Errors [MESH:D000592] (2565)   Methylmalonic acidemia [MESH:C537358] (764)  Sulfite oxidase deficiency [MESH:C538141] (27)  Beta-Hydroxyisobutyryl CoA Deacylase Deficiency [MESH:C562803] (33)  Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency [MESH:C565390] (43)  Maple Syrup Urine Disease [MESH:D008375] (127)  Propionic Acidemia [MESH:D056693] (60)  Phenylketonurias [MESH:D010661] (156)   Hyperphenylalaninemia, BH4-Deficient, B [MESH:C562656] (97)  Urea Cycle Disorders, Inborn [MESH:D056806] (315)   HHH syndrome [MESH:C538380] (29)  Brain Diseases, Metabolic, Inborn [MESH:D020739] (2634)   Creatine deficiency, X-linked [MESH:C535598] (58)  Leigh Disease [MESH:D007888] (206)  Maple Syrup Urine Disease [MESH:D008375] (127)  Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497)   Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178)  Pelizaeus-Merzbacher Disease [MESH:D020371] (103)  Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636)   Sialic Acid Storage Disease [MESH:D029461] (63)  Mucolipidoses [MESH:D009081] (78)   Neuraminidase 1 deficiency [MESH:C537366] (31)  Mucolipidosis III Gamma [MESH:C565367] (13)  Sphingolipidoses [MESH:D013106] (582)   Gaucher Disease [MESH:D005776] (299)  Niemann-Pick Diseases [MESH:D009542] (136)   Niemann-Pick Disease, Type C [MESH:D052556] (103)  MELAS Syndrome [MESH:D017241] (1061)   Myopathy with lactic acidosis and sideroblastic anemia [MESH:C536101] (35)  Peroxisomal Disorders [MESH:D018901] (1472)   Refsum Disease [MESH:D012035] (173)  Zellweger Syndrome [MESH:D015211] (182)  Phenylketonurias [MESH:D010661] (156)   Hyperphenylalaninemia, BH4-Deficient, B [MESH:C562656] (97)  Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)   Pyruvate Dehydrogenase E2 Deficiency [MESH:C565448] (44)  Urea Cycle Disorders, Inborn [MESH:D056806] (315)   HHH syndrome [MESH:C538380] (29)  Carbohydrate Metabolism, Inborn Errors [MESH:D002239] (1100)   Pentosuria [MESH:C536652] (43)  Ribose 5-Phosphate Isomerase Deficiency [MESH:C563212] (34)  Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83)  Congenital Disorders of Glycosylation [MESH:D018981] (188)   Congenital disorder of glycosylation type 1H [MESH:C535746] (19)  Congenital disorder of glycosylation type 1J [MESH:C535748] (17)  Congenital Disorder Of Glycosylation, Type IIF [MESH:C567040] (16)  Glycogen Storage Disease [MESH:D006008] (530)   Glycogen Storage Disease Type III [MESH:D006010] (39)  Mucolipidoses [MESH:D009081] (78)   Neuraminidase 1 deficiency [MESH:C537366] (31)  Mucolipidosis III Gamma [MESH:C565367] (13)  Mucopolysaccharidoses [MESH:D009083] (164)   Mucopolysaccharidosis II [MESH:D016532] (26)  Mucopolysaccharidosis III [MESH:D009084] (43)  Pyruvate Metabolism, Inborn Errors [MESH:D015323] (324)   Leigh Disease [MESH:D007888] (206)  Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)   Pyruvate Dehydrogenase E2 Deficiency [MESH:C565448] (44)  Lipid Metabolism, Inborn Errors [MESH:D008052] (2071)   Medium chain acyl CoA dehydrogenase deficiency [MESH:C536038] (92)  Hyperlipoproteinemia Type II [MESH:D006938] (707)  Hypolipoproteinemias [MESH:D007009] (365)   Hypobetalipoproteinemias [MESH:D006995] (88)   Chylomicron retention disease [MESH:C535460] (23)  Lipidoses [MESH:D008064] (1655)   Sjogren-Larsson Syndrome [MESH:D016111] (67)  Neuronal Ceroid-Lipofuscinoses [MESH:D009472] (1026)   Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)  Sphingolipidoses [MESH:D013106] (582)   Gaucher Disease [MESH:D005776] (299)  Niemann-Pick Diseases [MESH:D009542] (136)   Niemann-Pick Disease, Type C [MESH:D052556] (103)  Lysosomal Storage Diseases [MESH:D016464] (761)   Cystinosis [MESH:D003554] (16)   Cystinosis, ocular nonnephropathic [MESH:C535765] (12)  Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type [MESH:C562683] (12)  Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636)   Sialic Acid Storage Disease [MESH:D029461] (63)  Mucolipidoses [MESH:D009081] (78)   Neuraminidase 1 deficiency [MESH:C537366] (31)  Mucolipidosis III Gamma [MESH:C565367] (13)  Sphingolipidoses [MESH:D013106] (582)   Gaucher Disease [MESH:D005776] (299)  Niemann-Pick Diseases [MESH:D009542] (136)   Niemann-Pick Disease, Type C [MESH:D052556] (103)  Mucopolysaccharidoses [MESH:D009083] (164)   Mucopolysaccharidosis II [MESH:D016532] (26)  Mucopolysaccharidosis III [MESH:D009084] (43)  Metal Metabolism, Inborn Errors [MESH:D008664] (2017)   Molybdenum cofactor deficiency [MESH:C535811] (57)  Hemochromatosis [MESH:D006432] (1694)  Peroxisomal Disorders [MESH:D018901] (1788)   Acatalasia [MESH:D020642] (788)  Refsum Disease [MESH:D012035] (173)  Zellweger Syndrome [MESH:D015211] (182)  Chondrodysplasia Punctata, Rhizomelic [MESH:D018902] (53)   Rhizomelic chondrodysplasia punctata, type 3 [MESH:C537608] (26)  Renal Tubular Transport, Inborn Errors [MESH:D015499] (1027)   Acidosis, Renal Tubular [MESH:D000141] (225)   Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness [MESH:C562897] (11)  Glycosuria, Renal [MESH:D006030] (50)   Cataract, Juvenile, With Microcornea And Glucosuria [MESH:C567434] (26)  Renal Aminoacidurias [MESH:D000608] (95)   Cystinuria [MESH:D003555] (67)   Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)  Muscular Dystrophies [MESH:D009136] (1597)   Muscular Dystrophy, Congenital, Lmna-Related [MESH:C567708] (77)  Muscular Dystrophy, Emery-Dreifuss [MESH:D020389] (169)  Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854)  Walker-Warburg Syndrome [MESH:D058494] (36)  Distal Myopathies [MESH:D049310] (178)   Distal myopathy, Nonaka type [MESH:C536816] (40)  Muscular Dystrophies, Limb-Girdle [MESH:D049288] (259)   Limb-girdle muscular dystrophy type 2H [MESH:C535897] (15)  Limb-girdle muscular dystrophy, type 1B [MESH:C535898] (77)  Neoplastic Syndromes, Hereditary [MESH:D009386] (2578)   Meningioma, familial [MESH:C537443] (195)  Juvenile polyposis syndrome [MESH:C537702] (196)  Prostate Cancer, Hereditary, 12 [MESH:C567510] (26)  Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)  Wilms Tumor [MESH:D009396] (553)  Adenomatous Polyposis Coli [MESH:D011125] (1565)   Colorectal Adenomatous Polyposis, Autosomal Recessive [MESH:C563924] (28)  Hamartoma Syndrome, Multiple [MESH:D006223] (260)   Cowden-Like Syndrome [MESH:C567337] (52)  Osteogenesis Imperfecta [MESH:D010013] (481)   Osteogenesis imperfecta, type 7 [MESH:C536048] (21)  Osteogenesis imperfecta, type VIII [MESH:C536049] (17)  Osteoporosis-pseudoglioma syndrome [MESH:C536063] (31)  Skin Diseases, Genetic [MESH:D012873] (3456)   Pseudoxanthoma Elasticum [MESH:D011561] (115)  Sjogren-Larsson Syndrome [MESH:D016111] (67)  Cutis Laxa [MESH:D003483] (177)   Wrinkly skin syndrome [MESH:C536750] (24)  Cutis Laxa, Autosomal Recessive, Type IIA [MESH:C562632] (24)  Ectodermal Dysplasia [MESH:D004476] (958)   Cardiofaciocutaneous syndrome [MESH:C535579] (407)  Ehlers-Danlos Syndrome [MESH:D004535] (491)   Ehlers-Danlos syndrome type 1 [MESH:C536194] (344)  Ehlers-Danlos syndrome type 2 [MESH:C536195] (55)  Epidermolysis Bullosa [MESH:D004820] (259)   Nephropathy with Pretibial Epidermolysis Bullosa and Deafness [MESH:C563798] (43)  Keratoderma, Palmoplantar [MESH:D007645] (287)   Naxos disease [MESH:C538346] (51)  Xeroderma Pigmentosum [MESH:D014983] (213)   Xeroderma Pigmentosum, Complementation Group B [MESH:C562590] (31)  Infant, Newborn, Diseases [MESH:D007232] (3064)   Asphyxia Neonatorum [MESH:D001238] (1648)  Cystic Fibrosis [MESH:D003550] (760)  Epilepsy, Benign Neonatal [MESH:D020936] (57)   Epilepsy, Benign Neonatal, 3 [MESH:C564274] (13)  Ichthyosis [MESH:D007057] (476)   Sjogren-Larsson Syndrome [MESH:D016111] (67)  Severe Combined Immunodeficiency [MESH:D016511] (315)   Severe combined immunodeficiency due to adenosine deaminase deficiency [MESH:C531816] (67) C17. Skin and Connective Tissue Diseases  C17. Skin and Connective Tissue Diseases  Connective Tissue Diseases [MESH:D003240] (4490)   Lupus Erythematosus, Systemic [MESH:D008180] (2317)  Noonan Syndrome [MESH:D009634] (506)  Pseudoxanthoma Elasticum [MESH:D011561] (115)  Scleroderma, Localized [MESH:D012594] (1597)  Collagen Diseases [MESH:D003095] (1267)   Keloid [MESH:D007627] (1111)  Ehlers-Danlos Syndrome [MESH:D004535] (491)   Ehlers-Danlos syndrome type 1 [MESH:C536194] (344)  Ehlers-Danlos syndrome type 2 [MESH:C536195] (55)  Osteogenesis Imperfecta [MESH:D010013] (481)   Osteogenesis imperfecta, type 7 [MESH:C536048] (21)  Osteogenesis imperfecta, type VIII [MESH:C536049] (17)  Osteoporosis-pseudoglioma syndrome [MESH:C536063] (31)  Cutis Laxa [MESH:D003483] (177)   Wrinkly skin syndrome [MESH:C536750] (24)  Cutis Laxa, Autosomal Recessive, Type IIA [MESH:C562632] (24)  Mucinoses [MESH:D017520] (177)   Mucopolysaccharidoses [MESH:D009083] (164)   Mucopolysaccharidosis II [MESH:D016532] (26)  Mucopolysaccharidosis III [MESH:D009084] (43)  Rheumatic Diseases [MESH:D012216] (3619)   Arthritis, Rheumatoid [MESH:D001172] (3603)  Skin Diseases [MESH:D012871] (8774)   Lipomatosis [MESH:D008068] (182)  Nephrogenic Fibrosing Dermopathy [MESH:D054989] (452)  Scleroderma, Localized [MESH:D012594] (1597)  Skin Neoplasms [MESH:D012878] (2991)  Acneiform Eruptions [MESH:D017486] (1312)   Chloracne [MESH:D054506] (1274)  Breast Diseases [MESH:D001941] (6148)   Breast Neoplasms [MESH:D001943] (6077)   Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)  Dermatitis [MESH:D003872] (4530)   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)   Naxos disease [MESH:C538346] (51)  Hypotrichosis [MESH:D007039] (1513)   Hypotrichosis simplex [MESH:C537160] (92)  Keratosis [MESH:D007642] (1941)   Ichthyosis [MESH:D007057] (481)   Sjogren-Larsson Syndrome [MESH:D016111] (67)  Keratoderma, Palmoplantar [MESH:D007645] (287)   Naxos disease [MESH:C538346] (51)  Photosensitivity Disorders [MESH:D010787] (272)   Xeroderma Pigmentosum [MESH:D014983] (213)   Xeroderma Pigmentosum, Complementation Group B [MESH:C562590] (31)  Pigmentation Disorders [MESH:D010859] (1215)   Dyschromatosis symmetrica hereditaria 1 [MESH:C535729] (23)  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)  Xeroderma Pigmentosum [MESH:D014983] (213)   Xeroderma Pigmentosum, Complementation Group B [MESH:C562590] (31)  Skin Abnormalities [MESH:D012868] (1709)   Tight skin contracture syndrome, lethal [MESH:C536920] (84)  Microphthalmia, syndromic 7 [MESH:C537466] (18)  Port-Wine Stain [MESH:D019339] (86)  Pseudoxanthoma Elasticum [MESH:D011561] (115)  Ectodermal Dysplasia [MESH:D004476] (958)   Cardiofaciocutaneous syndrome [MESH:C535579] (407)  Ehlers-Danlos Syndrome [MESH:D004535] (491)   Ehlers-Danlos syndrome type 1 [MESH:C536194] (344)  Ehlers-Danlos syndrome type 2 [MESH:C536195] (55)  Epidermolysis Bullosa [MESH:D004820] (260)   Nephropathy with Pretibial Epidermolysis Bullosa and Deafness [MESH:C563798] (43)  Ichthyosis [MESH:D007057] (481)   Sjogren-Larsson Syndrome [MESH:D016111] (67)  Xeroderma Pigmentosum [MESH:D014983] (213)   Xeroderma Pigmentosum, Complementation Group B [MESH:C562590] (31)  Skin Diseases, Eczematous [MESH:D017443] (3740)   Dermatitis, Contact [MESH:D003877] (3394)   Dermatitis, Allergic Contact [MESH:D017449] (3241)  Skin Diseases, Genetic [MESH:D012873] (3481)   Pseudoxanthoma Elasticum [MESH:D011561] (115)  Sjogren-Larsson Syndrome [MESH:D016111] (67)  Cutis Laxa [MESH:D003483] (177)   Wrinkly skin syndrome [MESH:C536750] (24)  Cutis Laxa, Autosomal Recessive, Type IIA [MESH:C562632] (24)  Ectodermal Dysplasia [MESH:D004476] (958)   Cardiofaciocutaneous syndrome [MESH:C535579] (407)  Ehlers-Danlos Syndrome [MESH:D004535] (491)   Ehlers-Danlos syndrome type 1 [MESH:C536194] (344)  Ehlers-Danlos syndrome type 2 [MESH:C536195] (55)  Epidermolysis Bullosa [MESH:D004820] (260)   Nephropathy with Pretibial Epidermolysis Bullosa and Deafness [MESH:C563798] (43)  Hereditary Autoinflammatory Diseases [MESH:D056660] (247)   Periodic fever, familial, autosomal dominant [MESH:C536657] (177)  Keratoderma, Palmoplantar [MESH:D007645] (287)   Naxos disease [MESH:C538346] (51)  Xeroderma Pigmentosum [MESH:D014983] (213)   Xeroderma Pigmentosum, Complementation Group B [MESH:C562590] (31)  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)   Mandibuloacral dysplasia with type A lipodystrophy [MESH:C535705] (490)  HIV-Associated Lipodystrophy Syndrome [MESH:D039682] (91)  Lipodystrophy, Familial Partial [MESH:D052496] (589)  Skin Diseases, Papulosquamous [MESH:D017444] (3392)   Lichenoid Eruptions [MESH:D017512] (1324)  Psoriasis [MESH:D011565] (3278)  Skin Diseases, Vascular [MESH:D017445] (3288)   Behcet Syndrome [MESH:D001528] (1784)  Urticaria [MESH:D014581] (2668)  Livedo Reticularis [MESH:D054068] (228)   Aortic Aneurysm, Familial Thoracic 6 [MESH:C567085] (221)  Skin Diseases, Vesiculobullous [MESH:D012872] (1754)   Pemphigoid, Bullous [MESH:D010391] (707)  Epidermolysis Bullosa [MESH:D004820] (260)   Nephropathy with Pretibial Epidermolysis Bullosa and Deafness [MESH:C563798] (43) 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)   Acidosis, Lactic [MESH:D000140] (204)   Pyruvate Dehydrogenase E2 Deficiency [MESH:C565448] (44)  Acidosis, Renal Tubular [MESH:D000141] (225)   Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness [MESH:C562897] (11)  Brain Diseases, Metabolic [MESH:D001928] (3350)   Mitochondrial Encephalomyopathies [MESH:D017237] (158)  Brain Diseases, Metabolic, Inborn [MESH:D020739] (2634)   Creatine deficiency, X-linked [MESH:C535598] (58)  Leigh Disease [MESH:D007888] (206)  Maple Syrup Urine Disease [MESH:D008375] (127)  Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497)   Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178)  Pelizaeus-Merzbacher Disease [MESH:D020371] (103)  Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636)   Sialic Acid Storage Disease [MESH:D029461] (63)  Mucolipidoses [MESH:D009081] (78)   Neuraminidase 1 deficiency [MESH:C537366] (31)  Mucolipidosis III Gamma [MESH:C565367] (13)  Sphingolipidoses [MESH:D013106] (582)   Gaucher Disease [MESH:D005776] (299)  Niemann-Pick Diseases [MESH:D009542] (136)   Niemann-Pick Disease, Type C [MESH:D052556] (103)  MELAS Syndrome [MESH:D017241] (1061)   Myopathy with lactic acidosis and sideroblastic anemia [MESH:C536101] (35)  Peroxisomal Disorders [MESH:D018901] (1472)   Refsum Disease [MESH:D012035] (173)  Zellweger Syndrome [MESH:D015211] (182)  Phenylketonurias [MESH:D010661] (156)   Hyperphenylalaninemia, BH4-Deficient, B [MESH:C562656] (97)  Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)   Pyruvate Dehydrogenase E2 Deficiency [MESH:C565448] (44)  Urea Cycle Disorders, Inborn [MESH:D056806] (315)   HHH syndrome [MESH:C538380] (29)  Calcium Metabolism Disorders [MESH:D002128] (3634)   Calcinosis [MESH:D002114] (2989)   Aortic Valve, Calcification of [MESH:C562942] (655)  DNA Repair-Deficiency Disorders [MESH:D049914] (2245)   Nijmegen Breakage Syndrome-Like Disorder [MESH:C567767] (76)  Bloom Syndrome [MESH:D001816] (107)  Werner Syndrome [MESH:D014898] (88)  Ataxia Telangiectasia [MESH:D001260] (142)   Early-onset ataxia with oculomotor apraxia and hypoalbuminemia [MESH:C538013] (18)  Fanconi Anemia [MESH:D005199] (1604)   Fanconi Anemia, Complementation Group I [MESH:C563802] (34)  Severe Combined Immunodeficiency [MESH:D016511] (294)   Severe combined immunodeficiency due to adenosine deaminase deficiency [MESH:C531816] (67)  Xeroderma Pigmentosum [MESH:D014983] (213)   Xeroderma Pigmentosum, Complementation Group B [MESH:C562590] (31)  Glucose Metabolism Disorders [MESH:D044882] (6122)   Diabetes Mellitus [MESH:D003920] (5891)   Maturity-Onset Diabetes of the Young, Type 7 [MESH:C566466] (32)  Diabetes Mellitus, Experimental [MESH:D003921] (4771)  Diabetes Mellitus, Type 2 [MESH:D003924] (4219)  Diabetes Mellitus, Type 1 [MESH:D003922] (1897)   Wolfram Syndrome [MESH:D014929] (37)  Glycosuria [MESH:D006029] (100)   Glycosuria, Renal [MESH:D006030] (50)   Cataract, Juvenile, With Microcornea And Glucosuria [MESH:C567434] (26)  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)   Hyperferritinemia, hereditary, with congenital cataracts [MESH:C538137] (82)  Neurodegeneration with brain iron accumulation (NBIA) [MESH:C538421] (30)  Anemia, Iron-Deficiency [MESH:D018798] (547)  Iron Overload [MESH:D019190] (1772)   Hemochromatosis [MESH:D006432] (1694)  Lipid Metabolism Disorders [MESH:D052439] (3225)   Lipomatosis [MESH:D008068] (182)  Dyslipidemias [MESH:D050171] (2428)   Hyperlipidemias [MESH:D006949] (1908)   Hypercholesterolemia [MESH:D006937] (1404)  Hyperlipoproteinemias [MESH:D006951] (903)   Hyperlipoproteinemia Type II [MESH:D006938] (707)  Hypolipoproteinemias [MESH:D007009] (409)   Hypobetalipoproteinemias [MESH:D006995] (181)   Chylomicron retention disease [MESH:C535460] (23)  Lipid Metabolism, Inborn Errors [MESH:D008052] (461)   Medium chain acyl CoA dehydrogenase deficiency [MESH:C536038] (92)  Lipodystrophy [MESH:D008060] (930)   Mandibuloacral dysplasia with type A lipodystrophy [MESH:C535705] (490)  HIV-Associated Lipodystrophy Syndrome [MESH:D039682] (91)  Lipodystrophy, Familial Partial [MESH:D052496] (589)  Lipidoses [MESH:D008064] (1655)   Sjogren-Larsson Syndrome [MESH:D016111] (67)  Neuronal Ceroid-Lipofuscinoses [MESH:D009472] (1026)   Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)  Sphingolipidoses [MESH:D013106] (582)   Gaucher Disease [MESH:D005776] (299)  Niemann-Pick Diseases [MESH:D009542] (136)   Niemann-Pick Disease, Type C [MESH:D052556] (103)  Malabsorption Syndromes [MESH:D008286] (1869)   Chylomicron retention disease [MESH:C535460] (23)  Celiac Disease [MESH:D002446] (340)  Metabolism, Inborn Errors [MESH:D008661] (6028)   3-Hydroxyacyl-CoA Dehydrogenase Deficiency [MESH:C535310] (80)  Hypoproteinemia, Hypercatabolic [MESH:C565476] (99)  Progeria [MESH:D011371] (105)  Amino Acid Metabolism, Inborn Errors [MESH:D000592] (2559)   Methylmalonic acidemia [MESH:C537358] (764)  Sulfite oxidase deficiency [MESH:C538141] (27)  Beta-Hydroxyisobutyryl CoA Deacylase Deficiency [MESH:C562803] (33)  Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency [MESH:C565390] (43)  Maple Syrup Urine Disease [MESH:D008375] (127)  Propionic Acidemia [MESH:D056693] (60)  Phenylketonurias [MESH:D010661] (156)   Hyperphenylalaninemia, BH4-Deficient, B [MESH:C562656] (97)  Urea Cycle Disorders, Inborn [MESH:D056806] (315)   HHH syndrome [MESH:C538380] (29)  Brain Diseases, Metabolic, Inborn [MESH:D020739] (2634)   Creatine deficiency, X-linked [MESH:C535598] (58)  Leigh Disease [MESH:D007888] (206)  Maple Syrup Urine Disease [MESH:D008375] (127)  Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497)   Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178)  Pelizaeus-Merzbacher Disease [MESH:D020371] (103)  Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636)   Sialic Acid Storage Disease [MESH:D029461] (63)  Mucolipidoses [MESH:D009081] (78)   Neuraminidase 1 deficiency [MESH:C537366] (31)  Mucolipidosis III Gamma [MESH:C565367] (13)  Sphingolipidoses [MESH:D013106] (582)   Gaucher Disease [MESH:D005776] (299)  Niemann-Pick Diseases [MESH:D009542] (136)   Niemann-Pick Disease, Type C [MESH:D052556] (103)  MELAS Syndrome [MESH:D017241] (1061)   Myopathy with lactic acidosis and sideroblastic anemia [MESH:C536101] (35)  Peroxisomal Disorders [MESH:D018901] (1472)   Refsum Disease [MESH:D012035] (173)  Zellweger Syndrome [MESH:D015211] (182)  Phenylketonurias [MESH:D010661] (156)   Hyperphenylalaninemia, BH4-Deficient, B [MESH:C562656] (97)  Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)   Pyruvate Dehydrogenase E2 Deficiency [MESH:C565448] (44)  Urea Cycle Disorders, Inborn [MESH:D056806] (315)   HHH syndrome [MESH:C538380] (29)  Carbohydrate Metabolism, Inborn Errors [MESH:D002239] (1100)   Pentosuria [MESH:C536652] (43)  Ribose 5-Phosphate Isomerase Deficiency [MESH:C563212] (34)  Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83)  Congenital Disorders of Glycosylation [MESH:D018981] (188)   Congenital disorder of glycosylation type 1H [MESH:C535746] (19)  Congenital disorder of glycosylation type 1J [MESH:C535748] (17)  Congenital Disorder Of Glycosylation, Type IIF [MESH:C567040] (16)  Glycogen Storage Disease [MESH:D006008] (530)   Glycogen Storage Disease Type III [MESH:D006010] (39)  Mucolipidoses [MESH:D009081] (78)   Neuraminidase 1 deficiency [MESH:C537366] (31)  Mucolipidosis III Gamma [MESH:C565367] (13)  Mucopolysaccharidoses [MESH:D009083] (164)   Mucopolysaccharidosis II [MESH:D016532] (26)  Mucopolysaccharidosis III [MESH:D009084] (43)  Pyruvate Metabolism, Inborn Errors [MESH:D015323] (324)   Leigh Disease [MESH:D007888] (206)  Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)   Pyruvate Dehydrogenase E2 Deficiency [MESH:C565448] (44)  Lipid Metabolism, Inborn Errors [MESH:D008052] (2071)   Medium chain acyl CoA dehydrogenase deficiency [MESH:C536038] (92)  Hyperlipoproteinemia Type II [MESH:D006938] (707)  Hypolipoproteinemias [MESH:D007009] (365)   Hypobetalipoproteinemias [MESH:D006995] (88)   Chylomicron retention disease [MESH:C535460] (23)  Lipidoses [MESH:D008064] (1655)   Sjogren-Larsson Syndrome [MESH:D016111] (67)  Neuronal Ceroid-Lipofuscinoses [MESH:D009472] (1026)   Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)  Sphingolipidoses [MESH:D013106] (582)   Gaucher Disease [MESH:D005776] (299)  Niemann-Pick Diseases [MESH:D009542] (136)   Niemann-Pick Disease, Type C [MESH:D052556] (103)  Lysosomal Storage Diseases [MESH:D016464] (761)   Cystinosis [MESH:D003554] (16)   Cystinosis, ocular nonnephropathic [MESH:C535765] (12)  Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type [MESH:C562683] (12)  Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636)   Sialic Acid Storage Disease [MESH:D029461] (63)  Mucolipidoses [MESH:D009081] (78)   Neuraminidase 1 deficiency [MESH:C537366] (31)  Mucolipidosis III Gamma [MESH:C565367] (13)  Sphingolipidoses [MESH:D013106] (582)   Gaucher Disease [MESH:D005776] (299)  Niemann-Pick Diseases [MESH:D009542] (136)   Niemann-Pick Disease, Type C [MESH:D052556] (103)  Mucopolysaccharidoses [MESH:D009083] (164)   Mucopolysaccharidosis II [MESH:D016532] (26)  Mucopolysaccharidosis III [MESH:D009084] (43)  Metal Metabolism, Inborn Errors [MESH:D008664] (2017)   Molybdenum cofactor deficiency [MESH:C535811] (57)  Hemochromatosis [MESH:D006432] (1694)  Peroxisomal Disorders [MESH:D018901] (1788)   Acatalasia [MESH:D020642] (788)  Refsum Disease [MESH:D012035] (173)  Zellweger Syndrome [MESH:D015211] (182)  Chondrodysplasia Punctata, Rhizomelic [MESH:D018902] (53)   Rhizomelic chondrodysplasia punctata, type 3 [MESH:C537608] (26)  Renal Tubular Transport, Inborn Errors [MESH:D015499] (1026)   Acidosis, Renal Tubular [MESH:D000141] (225)   Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness [MESH:C562897] (11)  Glycosuria, Renal [MESH:D006030] (50)   Cataract, Juvenile, With Microcornea And Glucosuria [MESH:C567434] (26)  Renal Aminoacidurias [MESH:D000608] (89)   Cystinuria [MESH:D003555] (67)   Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)  Mitochondrial Diseases [MESH:D028361] (2561)   Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)  Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation [MESH:C567009] (13)  Cowden-Like Syndrome [MESH:C567337] (52)  Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178)  Leigh Disease [MESH:D007888] (206)  Mitochondrial Myopathies [MESH:D017240] (2176)   Mitochondrial Encephalomyopathies [MESH:D017237] (1121)   MELAS Syndrome [MESH:D017241] (1061)   Myopathy with lactic acidosis and sideroblastic anemia [MESH:C536101] (35)  Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)   Pyruvate Dehydrogenase E2 Deficiency [MESH:C565448] (44)  Proteostasis Deficiencies [MESH:D057165] (3522)   TDP-43 Proteinopathies [MESH:D057177] (3337)   Amyotrophic Lateral Sclerosis [MESH:D000690] (3296)   Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559)  Frontotemporal Lobar Degeneration [MESH:D057174] (308)   Frontotemporal Dementia [MESH:D057180] (298)  Skin Diseases, Metabolic [MESH:D012875] (1574)   Lipodystrophy [MESH:D008060] (930)   Mandibuloacral dysplasia with type A lipodystrophy [MESH:C535705] (490)  HIV-Associated Lipodystrophy Syndrome [MESH:D039682] (91)  Lipodystrophy, Familial Partial [MESH:D052496] (589)  Nutrition Disorders [MESH:D009748] (4945)   Malnutrition [MESH:D044342] (2754)   Deficiency Diseases [MESH:D003677] (2742)   Protein Deficiency [MESH:D011488] (1057)  Overnutrition [MESH:D044343] (4463)   Obesity [MESH:D009765] (4462)   MORM syndrome [MESH:C536984] (15)  Obesity, Morbid [MESH:D009767] (515) C19. Endocrine System Diseases  C19. Endocrine System Diseases  Endocrine System Diseases [MESH:D004700] (8062)   Adrenal Gland Diseases [MESH:D000307] (2397)   Adrenal Insufficiency [MESH:D000309] (1599)   Addison Disease [MESH:D000224] (40)  Adrenocortical Hyperfunction [MESH:D000308] (618)   Hyperaldosteronism [MESH:D006929] (419)  Diabetes Mellitus [MESH:D003920] (6159)   Maturity-Onset Diabetes of the Young, Type 7 [MESH:C566466] (32)  Diabetes Mellitus, Experimental [MESH:D003921] (4771)  Diabetes Mellitus, Type 2 [MESH:D003924] (4219)  Diabetes Complications [MESH:D048909] (4129)   Diabetic Nephropathies [MESH:D003928] (2301)  Diabetic Neuropathies [MESH:D003929] (2443)  Diabetes Mellitus, Type 1 [MESH:D003922] (1897)   Wolfram Syndrome [MESH:D014929] (37)  Dwarfism [MESH:D004392] (698)   Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type [MESH:C564794] (29)  Endocrine Gland Neoplasms [MESH:D004701] (4925)   Ovarian Neoplasms [MESH:D010051] (3275)   Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)  Pancreatic Neoplasms [MESH:D010190] (3820)   Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)  Thyroid Neoplasms [MESH:D013964] (2040)   Thyroid cancer, papillary [MESH:C536915] (111)  Gonadal Disorders [MESH:D006058] (5088)   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)   Persistent Mullerian duct syndrome [MESH:C536665] (47)  Gonadal Dysgenesis, 46,XY [MESH:D006061] (131)   46, XY Sex Reversal 5 [MESH:C567766] (19)  Adrenogenital Syndrome [MESH:D047808] (715)   Hyperandrogenism [MESH:D017588] (98)  Gonadal Dysgenesis [MESH:D006059] (492)   Gonadal Dysgenesis, 46,XY [MESH:D006061] (131)   46, XY Sex Reversal 5 [MESH:C567766] (19)  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)   Cryptorchidism [MESH:D003456] (215)   Carnevale syndrome [MESH:C535586] (45)  Pituitary Diseases [MESH:D010900] (1829)   Diabetes Insipidus [MESH:D003919] (302)   Wolfram Syndrome [MESH:D014929] (37)  Thyroid Diseases [MESH:D013959] (2808)   Thyroid Hormone Metabolism, Abnormal [MESH:C566454] (16)  Goiter [MESH:D006042] (359)   Graves Disease [MESH:D006111] (278)  Hyperthyroidism [MESH:D006980] (1191)   Graves Disease [MESH:D006111] (278)  Thyroid Neoplasms [MESH:D013964] (2040)   Thyroid cancer, papillary [MESH:C536915] (111) C20. Immune System Diseases  C20. Immune System Diseases  Immune System Diseases [MESH:D007154] (7674)   Autoimmune Diseases [MESH:D001327] (5067)   Addison Disease [MESH:D000224] (40)  Arthritis, Rheumatoid [MESH:D001172] (3601)  Diabetes Mellitus, Type 1 [MESH:D003922] (1893)  Graves Disease [MESH:D006111] (278)  Lupus Erythematosus, Systemic [MESH:D008180] (2317)  Pemphigoid, Bullous [MESH:D010391] (707)  Autoimmune Diseases of the Nervous System [MESH:D020274] (2238)   Aicardi-Goutieres syndrome [MESH:C535607] (57)  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)  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)   Urticaria [MESH:D014581] (2668)  Respiratory Hypersensitivity [MESH:D012130] (4250)   Asthma [MESH:D001249] (3914)  Immunologic Deficiency Syndromes [MESH:D007153] (3788)   Schimke immunoosseous dysplasia [MESH:C536629] (16)  Agammaglobulinemia [MESH:D000361] (156)   Severe combined immunodeficiency due to adenosine deaminase deficiency [MESH:C531816] (67)  Ataxia Telangiectasia [MESH:D001260] (142)   Early-onset ataxia with oculomotor apraxia and hypoalbuminemia [MESH:C538013] (18)  Dysgammaglobulinemia [MESH:D004406] (67)   IgA Deficiency [MESH:D017098] (45)  HIV Infections [MESH:D015658] (3402)   HIV-Associated Lipodystrophy Syndrome [MESH:D039682] (91)  Phagocyte Bactericidal Dysfunction [MESH:D010585] (999)   Job Syndrome [MESH:D007589] (772)   Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant [MESH:C567925] (283)  Severe Combined Immunodeficiency [MESH:D016511] (315)   Severe combined immunodeficiency due to adenosine deaminase deficiency [MESH:C531816] (67)  Immunoproliferative Disorders [MESH:D007160] (4761)   Hypergammaglobulinemia [MESH:D006942] (137)  Lymphoproliferative Disorders [MESH:D008232] (4734)   Multiple Myeloma [MESH:D009101] (2767)  Leukemia, Lymphoid [MESH:D007945] (3047)   Leukemia, B-Cell [MESH:D015448] (2564)   Leukemia, Lymphocytic, Chronic, B-Cell [MESH:D015451] (2562)  Leukemia, T-Cell [MESH:D015458] (395)   Leukemia-Lymphoma, Adult T-Cell [MESH:D015459] (138)  Precursor Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054198] (1754)   Precursor B-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D015452] (354)  Lymphoma [MESH:D008223] (3684)   Hodgkin Disease [MESH:D006689] (1082)  Lymphoma, Non-Hodgkin [MESH:D008228] (3330)   Burkitt Lymphoma [MESH:D002051] (691)  Lymphoma, Follicular [MESH:D008224] (1025)  Lymphoma, Mantle-Cell [MESH:D020522] (561)  Lymphoma, B-Cell [MESH:D016393] (2624)   Burkitt Lymphoma [MESH:D002051] (691)  Lymphoma, Large B-Cell, Diffuse [MESH:D016403] (2012)  Lymphoma, T-Cell [MESH:D016399] (1382)   Lymphoma, Large-Cell, Anaplastic [MESH:D017728] (420)  Lymphoma, T-Cell, Cutaneous [MESH:D016410] (912)  Paraproteinemias [MESH:D010265] (2791)   Multiple Myeloma [MESH:D009101] (2765) C22. Animal Diseases  C22. Animal Diseases  Animal Diseases [MESH:D000820] (3656)   Disease Models, Animal [MESH:D004195] (2058)  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)   Atrophy [MESH:D001284] (2603)   Muscular Atrophy [MESH:D009133] (1234)   Lethal Congenital Contractural Syndrome 3 [MESH:C566961] (10)  Fistula [MESH:D005402] (130)   Digestive System Fistula [MESH:D016154] (102)   Esophageal Fistula [MESH:D004937] (89)   Tracheoesophageal Fistula [MESH:D014138] (88)   Oculodigitoesophagoduodenal syndrome [MESH:C537734] (58)  Hernia [MESH:D006547] (2825)   Hernia, Diaphragmatic [MESH:D006548] (2647)   Congenital diaphragmatic hernia [MESH:C538080] (381)  Hypertrophy [MESH:D006984] (4476)   Hepatomegaly [MESH:D006529] (1169)  Cardiomegaly [MESH:D006332] (3802)   Hypertrophy, Left Ventricular [MESH:D017379] (1430)  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)  Muscle Weakness [MESH:D018908] (478)  Necrosis [MESH:D009336] (4019)  Nerve Degeneration [MESH:D009410] (4061)  Arrhythmias, Cardiac [MESH:D001145] (4658)   Atrial Fibrillation [MESH:D001281] (1053)  Bradycardia [MESH:D001919] (1899)  Long QT Syndrome [MESH:D008133] (691)  Ventricular Fibrillation [MESH:D014693] (624)  Heart Block [MESH:D006327] (571)   Sinoatrial Block [MESH:D012848] (95)  Tachycardia [MESH:D013610] (3339)   Tachycardia, Ventricular [MESH:D017180] (1386)  Chromosome Aberrations [MESH:D002869] (2352)   Chromosome Breakage [MESH:D019457] (139)  Micronuclei, Chromosome-Defective [MESH:D048629] (1013)  Aneuploidy [MESH:D000782] (1237)   Monosomy [MESH:D009006] (1121)   Chromosome Deletion [MESH:D002872] (1117)   Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)  Death [MESH:D003643] (1328)   Fetal Death [MESH:D005313] (464)  Death, Sudden [MESH:D003645] (725)   Death, Sudden, Cardiac [MESH:D016757] (168)  Disease Attributes [MESH:D020969] (3654)   Disease Progression [MESH:D018450] (2868)  Disease Susceptibility [MESH:D004198] (1200)   Genetic Predisposition to Disease [MESH:D020022] (966)  Facies [MESH:D019066] (738)   Cardiofaciocutaneous syndrome [MESH:C535579] (407)  Pitt-Hopkins syndrome [MESH:C537403] (113)  Macrocephaly Autism Syndrome [MESH:C565342] (151)  Fibrosis [MESH:D005355] (3133)   Fibrosis Of Extraocular Muscles, Congenital, 2 [MESH:C566587] (18)  Nephrogenic Fibrosing Dermopathy [MESH:D054989] (452)  Cicatrix [MESH:D002921] (1115)   Keloid [MESH:D007627] (1110)  Growth Disorders [MESH:D006130] (2438)   Meier-Gorlin syndrome [MESH:C538012] (133)  Nijmegen Breakage Syndrome-Like Disorder [MESH:C567767] (76)  Hemorrhage [MESH:D006470] (4451)   Shock, Hemorrhagic [MESH:D012771] (2042)  Eye Hemorrhage [MESH:D005130] (94)   Retinal Hemorrhage [MESH:D012166] (84)   Brain Small Vessel Disease with Hemorrhage [MESH:C564372] (77)  Intracranial Hemorrhages [MESH:D020300] (3241)   Cerebral Hemorrhage [MESH:D002543] (2872)  Hyperammonemia [MESH:D022124] (322)   HHH syndrome [MESH:C538380] (29)  Inflammation [MESH:D007249] (5241)   Systemic Inflammatory Response Syndrome [MESH:D018746] (3563)   Sepsis [MESH:D018805] (3562)   Bacteremia [MESH:D016470] (1369)   Endotoxemia [MESH:D019446] (1289)  Ischemia [MESH:D007511] (3049)   No-Reflow Phenomenon [MESH:D054318] (277)  Neoplastic Processes [MESH:D009385] (5317)   Neoplasm Invasiveness [MESH:D009361] (3388)  Neoplasm Recurrence, Local [MESH:D009364] (1949)  Carcinogenesis [MESH:D063646] (3391)   Cell Transformation, Neoplastic [MESH:D002471] (3389)  Neoplasm Metastasis [MESH:D009362] (4441)   Lymphatic Metastasis [MESH:D008207] (917)  Postoperative Complications [MESH:D011183] (5311)   Reperfusion Injury [MESH:D015427] (4968)   Myocardial Reperfusion Injury [MESH:D015428] (3500)  Shock [MESH:D012769] (2550)   Shock, Hemorrhagic [MESH:D012771] (2042)  Signs and Symptoms [MESH:D012816] (10659)   Edema [MESH:D004487] (3726)  Hypergammaglobulinemia [MESH:D006942] (105)  Body Temperature Changes [MESH:D001832] (3130)   Fever [MESH:D005334] (2856)  Body Weight [MESH:D001835] (4972)   Birth Weight [MESH:D001724] (377)  Body Weight Changes [MESH:D001836] (3206)   Weight Gain [MESH:D015430] (2595)  Weight Loss [MESH:D015431] (2512)   Emaciation [MESH:D004614] (2285)   Cachexia [MESH:D002100] (2283)  Overweight [MESH:D050177] (4455)   Obesity [MESH:D009765] (4454)   MORM syndrome [MESH:C536984] (15)  Obesity, Morbid [MESH:D009767] (515)  Failure to Thrive [MESH:D005183] (415)   Cardiofaciocutaneous syndrome [MESH:C535579] (407)  Neurologic Manifestations [MESH:D009461] (8702)   Dyskinesias [MESH:D020820] (3285)   Ataxia [MESH:D001259] (984)  Catalepsy [MESH:D002375] (1429)  Dystonia [MESH:D004421] (848)  Hyperkinesis [MESH:D006948] (1799)  Hypokinesia [MESH:D018476] (279)  Psychomotor Agitation [MESH:D011595] (210)  Tics [MESH:D020323] (62)  Chorea [MESH:D002819] (189)   Generalized Epilepsy and Paroxysmal Dyskinesia [MESH:C563719] (51)  Huntington Disease-Like 2 [MESH:C564708] (14)  Neurobehavioral Manifestations [MESH:D019954] (4706)   Memory Disorders [MESH:D008569] (3233)  Apraxias [MESH:D001072] (114)   Early-onset ataxia with oculomotor apraxia and hypoalbuminemia [MESH:C538013] (18)  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)   Stuttering [MESH:D013342] (38)  Articulation Disorders [MESH:D001184] (164)   Dysarthria [MESH:D004401] (163)  Intellectual Disability [MESH:D008607] (1476)   MORM syndrome [MESH:C536984] (15)  Pitt-Hopkins syndrome [MESH:C537403] (113)  Bohring syndrome [MESH:C537419] (26)  Oculodigitoesophagoduodenal syndrome [MESH:C537734] (58)  Brunner Syndrome [MESH:C563156] (124)  Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)  Cerebral Cavernous Malformations 3 [MESH:C566393] (27)  Mental Retardation, Fra12a Type [MESH:C566980] (15)  Psychomotor Disorders [MESH:D011596] (576)   Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83)  Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy [MESH:C567020] (21)  Psychomotor Agitation [MESH:D011595] (167)  Apraxias [MESH:D001072] (118)   Early-onset ataxia with oculomotor apraxia and hypoalbuminemia [MESH:C538013] (18)  Neuromuscular Manifestations [MESH:D020879] (2130)   Muscle Weakness [MESH:D018908] (478)  Muscle Cramp [MESH:D009120] (135)   Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps [MESH:C567088] (77)  Muscle Hypertonia [MESH:D009122] (775)   Muscle Rigidity [MESH:D009127] (617)   Hyperexplexia hereditary [MESH:C538136] (80)  Muscle Hypotonia [MESH:D009123] (258)   Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)  Muscular Atrophy [MESH:D009133] (1234)   Lethal Congenital Contractural Syndrome 3 [MESH:C566961] (10)  Pain [MESH:D010146] (3869)   Pain, Intractable [MESH:D010148] (707)  Neuralgia [MESH:D009437] (2074)   Neuralgia, Postherpetic [MESH:D051474] (742)  Paralysis [MESH:D010243] (2298)   Paraplegia [MESH:D010264] (65)  Hemiplegia [MESH:D006429] (184)   Familial porencephaly [MESH:C536850] (77)  Ophthalmoplegia [MESH:D009886] (1468)   Fibrosis Of Extraocular Muscles, Congenital, 2 [MESH:C566587] (18)  Supranuclear Palsy, Progressive [MESH:D013494] (235)   Progressive supranuclear palsy atypical [MESH:C537240] (142)  Seizures [MESH:D012640] (4502)   Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83)  Sensation Disorders [MESH:D012678] (5009)   Olfaction Disorders [MESH:D000857] (105)  Hearing Disorders [MESH:D006311] (2101)   Hearing Loss [MESH:D034381] (2066)   Hearing Loss, Sensorineural [MESH:D006319] (1227)   MYH9-Related Disorders [MESH:C535507] (46)  Macrothrombocytopenia progressive deafness [MESH:C537831] (46)  Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness [MESH:C562897] (11)  Deafness, Autosomal Dominant 6 [MESH:C563421] (32)  Nephropathy with Pretibial Epidermolysis Bullosa and Deafness [MESH:C563798] (43)  Deafness, Autosomal Recessive 28 [MESH:C565218] (26)  Deafness, Autosomal Dominant 20 [MESH:C565754] (69)  Somatosensory Disorders [MESH:D020886] (4000)   Hyperalgesia [MESH:D006930] (3929)  Pain [MESH:D010146] (4511)   Pain, Intractable [MESH:D010148] (707)  Chest Pain [MESH:D002637] (2642)   Angina Pectoris [MESH:D000787] (2568)   Acute Coronary Syndrome [MESH:D054058] (2286)  Angina, Unstable [MESH:D000789] (782)  Neuralgia [MESH:D009437] (2074)   Neuralgia, Postherpetic [MESH:D051474] (742)  Signs and Symptoms, Digestive [MESH:D012817] (3095)   Anorexia [MESH:D000855] (854)  Signs and Symptoms, Respiratory [MESH:D012818] (2724)   Anoxia [MESH:D000860] (1698)  Hyperoxia [MESH:D018496] (694)  Hyperventilation [MESH:D006985] (652)   Pitt-Hopkins syndrome [MESH:C537403] (113)  Hypoventilation [MESH:D007040] (359)   Congenital central hypoventilation syndrome [MESH:C536209] (341)  Skin Manifestations [MESH:D012877] (1250)   Livedo Reticularis [MESH:D054068] (228)   Aortic Aneurysm, Familial Thoracic 6 [MESH:C567085] (221)  Urological Manifestations [MESH:D020924] (3532)   Proteinuria [MESH:D011507] (3293)   Albuminuria [MESH:D000419] (2394) C24. Occupational Diseases  C24. Occupational Diseases  Occupational Diseases [MESH:D009784] (3402)   Pneumoconiosis [MESH:D011009] (2670)   Asbestosis [MESH:D001195] (935) 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)  Dyskinesia, Drug-Induced [MESH:D004409] (1389)  Poisoning [MESH:D011041] (6703)   Arsenic Poisoning [MESH:D020261] (2540)  Drug-Induced Liver Injury [MESH:D056486] (4936)  Psychoses, Substance-Induced [MESH:D011605] (2053)  Neurotoxicity Syndromes [MESH:D020258] (3323)   Dyskinesia, Drug-Induced [MESH:D004409] (1389)  Substance-Related Disorders [MESH:D019966] (6308)   Amphetamine-Related Disorders [MESH:D019969] (2858)  Cocaine-Related Disorders [MESH:D019970] (3054)  Marijuana Abuse [MESH:D002189] (1132)  Psychoses, Substance-Induced [MESH:D011605] (2052)  Substance Withdrawal Syndrome [MESH:D013375] (2956)  Alcohol-Related Disorders [MESH:D019973] (3869)   Alcoholism [MESH:D000437] (1519)  Alcohol-Induced Disorders [MESH:D020751] (3350)   Liver Diseases, Alcoholic [MESH:D008108] (3243)   Liver Cirrhosis, Alcoholic [MESH:D008104] (3066)  Opioid-Related Disorders [MESH:D009293] (1491)   Morphine Dependence [MESH:D009021] (855) C26. Wounds and Injuries  C26. Wounds and Injuries  Wounds and Injuries [MESH:D014947] (5171)   Fractures, Bone [MESH:D050723] (597)  Heat Stress Disorders [MESH:D018882] (226)  Spinal Cord Injuries [MESH:D013119] (2688)  Vascular System Injuries [MESH:D057772] (2086)  Craniocerebral Trauma [MESH:D006259] (3523)   Brain Injuries [MESH:D001930] (3431)  Radiation Injuries [MESH:D011832] (2718)   Radiation Injuries, Experimental [MESH:D011833] (2662)  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) D02. Organic Chemicals  D02. Organic Chemicals  Organic Chemicals [MESH:D009930] (75987)   Alcohols [MESH:D000438] (4074)   Amino Alcohols [MESH:D000605] (1204)   Ethanolamines [MESH:D004983] (537)   Choline [MESH:D002794] (128)  Amines [MESH:D000588] (7350)   Amino Alcohols [MESH:D000605] (1202)   Ethanolamines [MESH:D004983] (508)   Choline [MESH:D002794] (128)  Quaternary Ammonium Compounds [MESH:D000644] (1079)   Trimethyl Ammonium Compounds [MESH:D050337] (382)   Choline [MESH:D002794] (227)  Onium Compounds [MESH:D009861] (1061)   Quaternary Ammonium Compounds [MESH:D000644] (1001)   Choline [MESH:D002794] (227) 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)   Body Constitution [MESH:D001824] (450)   Body Weights and Measures [MESH:D001837] (448)   Body Size [MESH:D049628] (439)   Body Weight [MESH:D001835] (433)   Overweight [MESH:D050177] (428)   Obesity [MESH:D009765] (427)   MORM syndrome [MESH:C536984] (15)  Facies [MESH:D019066] (704)   Cardiofaciocutaneous syndrome [MESH:C535579] (407)  Pitt-Hopkins syndrome [MESH:C537403] (113)  Macrocephaly Autism Syndrome [MESH:C565342] (151) F. Psychiatry and Psychology  F. Psychiatry and Psychology  Behavior and Behavior Mechanisms [MESH:D001520] (1594)   Behavior [MESH:D001519] (335)   Behavioral Symptoms [MESH:D001526] (173)   Aggression [MESH:D000374] (127)   Brunner Syndrome [MESH:C563156] (124)  Social Behavior [MESH:D012919] (163)   Aggression [MESH:D000374] (125)   Brunner Syndrome [MESH:C563156] (124)  Neurobehavioral Manifestations [MESH:D019954] (1206)   Apraxias [MESH:D001072] (83)   Early-onset ataxia with oculomotor apraxia and hypoalbuminemia [MESH:C538013] (18)  Intellectual Disability [MESH:D008607] (1109)   MORM syndrome [MESH:C536984] (15)  Pitt-Hopkins syndrome [MESH:C537403] (113)  Bohring syndrome [MESH:C537419] (26)  Oculodigitoesophagoduodenal syndrome [MESH:C537734] (58)  Brunner Syndrome [MESH:C563156] (124)  Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)  Cerebral Cavernous Malformations 3 [MESH:C566393] (27)  Mental Retardation, Fra12a Type [MESH:C566980] (15)  Psychomotor Disorders [MESH:D011596] (250)   Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83)  Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy [MESH:C567020] (21)  Apraxias [MESH:D001072] (83)   Early-onset ataxia with oculomotor apraxia and hypoalbuminemia [MESH:C538013] (18)  Mental Disorders [MESH:D001523] (2063)   Delirium, Dementia, Amnestic, Cognitive Disorders [MESH:D019965] (487)   Cognition Disorders [MESH:D003072] (115)   Huntington Disease-Like 2 [MESH:C564708] (14)  Dementia [MESH:D003704] (471)   Huntington Disease-Like 2 [MESH:C564708] (14)  Lewy Body Disease [MESH:D020961] (139)   Parkinson Disease 4, Autosomal Dominant Lewy Body [MESH:C565324] (136)  Impulse Control Disorders [MESH:D007174] (128)   Brunner Syndrome [MESH:C563156] (124)  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)  Developmental Disabilities [MESH:D002658] (151)   Malpuech facial clefting syndrome [MESH:C535704] (45)  Intellectual Disability [MESH:D008607] (1109)   MORM syndrome [MESH:C536984] (15)  Pitt-Hopkins syndrome [MESH:C537403] (113)  Bohring syndrome [MESH:C537419] (26)  Oculodigitoesophagoduodenal syndrome [MESH:C537734] (58)  Brunner Syndrome [MESH:C563156] (124)  Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)  Cerebral Cavernous Malformations 3 [MESH:C566393] (27)  Mental Retardation, Fra12a Type [MESH:C566980] (15)  Sexual and Gender Disorders [MESH:D019968] (624)   Disorders of Sex Development [MESH:D012734] (609)   46, XY Disorders of Sex Development [MESH:D058490] (388)   Persistent Mullerian duct syndrome [MESH:C536665] (47) 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)   Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)  Genetic Structures [MESH:D040342] (1612)   Chromosomes [MESH:D002875] (1304)   Chromosomes, Mammalian [MESH:D033481] (1282)   Chromosomes, Human [MESH:D002877] (1280)   Chromosomes, Human, 21-22 and Y [MESH:D002904] (294)   Chromosomes, Human, Pair 21 [MESH:D002891] (58)   Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)  Genetic Variation [MESH:D014644] (1337)   Mutation [MESH:D009154] (1327)   Allelic Imbalance [MESH:D022981] (1120)   Loss of Heterozygosity [MESH:D019656] (1119)   Chromosome Deletion [MESH:D002872] (1117)   Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)  Chromosome Aberrations [MESH:D002869] (1297)   Aneuploidy [MESH:D000782] (1220)   Monosomy [MESH:D009006] (1121)   Chromosome Deletion [MESH:D002872] (1117)   Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)  Sequence Deletion [MESH:D017384] (1120)   Chromosome Deletion [MESH:D002872] (1117)   Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)  Ploidies [MESH:D011003] (1227)   Aneuploidy [MESH:D000782] (1220)   Monosomy [MESH:D009006] (1121)   Chromosome Deletion [MESH:D002872] (1117)   Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)  Physiological Phenomena [MESH:D010829] (788)   Body Constitution [MESH:D001824] (453)   Body Weights and Measures [MESH:D001837] (444)   Body Size [MESH:D049628] (438)   Body Weight [MESH:D001835] (433)   Overweight [MESH:D050177] (428)   Obesity [MESH:D009765] (427)   MORM syndrome [MESH:C536984] (15)