Item 5 of 33 (back to results) previous next   2,3-bis(3'-hydroxybenzyl)butyrolactone C029497               MeSH Unique Identifier: C029497 Scope Notes: Lignan isolated from urine of humans & other mammals Chemical – Gene Interaction Note 1: [Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in increased expression of AAAS mRNA Note 2: [Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in decreased expression of ABCC5 mRNA Click here for more information

Current search: C05. Musculoskeletal Diseases: Musculoskeletal Diseases [MESH:D009140] > Musculoskeletal Abnormalities [MESH:D009139] > Craniofacial Abnormalities [MESH:D019465] > Maxillofacial Abnormalities [MESH:D019767] > Jaw Abnormalities [MESH:D007569] > Cleft Palate [MESH:D002972] > Popliteal Pterygium Syndrome [MESH:C562509] × Select any link to see items in a related category. more general categories    information about this item 1. Human Genes  1. Human Genes  Abhydrolase domain containing [HGNC:ABHD] (24)   abhydrolase domain containing 12 [HGNC:ABHD12] (7)  Acyl-CoA thioesterases [HGNC:ACOT] (25)   acyl-CoA thioesterase 7 [HGNC:ACOT7] (13)  A-kinase anchor proteins [HGNC:AKAP] (99)   A kinase (PRKA) anchor protein 13 [HGNC:AKAP13] (18)  ezrin [HGNC:EZR] (32)  neurobeachin [HGNC:NBEA] (10)  Aminoacyl tRNA synthetases [HGNC:AARS] (56)   Aminoacyl tRNA synthetases, Class II [HGNC:aaRS2] (45)   aspartyl-tRNA synthetase 2, mitochondrial [HGNC:DARS2] (8)  Arylsulfatase family [HGNC:ARS] (5)   galactosamine (N-acetyl)-6-sulfate sulfatase [HGNC:GALNS] (5)  Ataxins [HGNC:ATXN] (46)   ataxin 01 [HGNC:ATXN1] (21)  ATPases [HGNC:ATP] (106)   ATPases, AAA [HGNC:AATP] (69)   origin recognition complex, subunit 1 [HGNC:ORC1] (20)  proteasome (prosome, macropain) 26S subunit, ATPase, 3 [HGNC:PSMC3] (15)  ATPases, P-type [HGNC:PATP] (43)   ATPase, Ca++ transporting, type 2C, member 1 [HGNC:ATP2C1] (6)  ATP-binding cassette transporters [HGNC:ABC] (821)   ATP-binding cassette transporters, subfamily C [HGNC:ABCC] (458)   ATP-binding cassette, sub-family C (CFTR/MRP), member 5 [HGNC:ABCC5] (40)  ATP-binding cassette transporters, subfamily G [HGNC:ABCG] (184)   ATP-binding cassette, sub-family G (WHITE), member 1 [HGNC:ABCG1] (40)  Basic helix-loop-helix [HGNC:BHLH] (618)   hairy and enhancer of split 1 (Drosophila) [HGNC:HES1] (41)  inhibitor of DNA binding 3, dominant negative helix-loop-helix protein [HGNC:ID3] (47)  nuclear receptor coactivator 1 [HGNC:NCOA1] (71)  twist basic helix-loop-helix transcription factor 1 [HGNC:TWIST1] (19)  Basic leucine zipper proteins [HGNC:bZIP] (670)   CCAAT/enhancer binding protein (C/EBP), delta [HGNC:CEBPD] (51)  FBJ murine osteosarcoma viral oncogene homolog [HGNC:FOS] (277)  jun B proto-oncogene [HGNC:JUNB] (59)  jun proto-oncogene [HGNC:JUN] (290)  Blood group antigens [HGNC:blood-group] (97)   CD0055 molecule, decay accelerating factor for complement (Cromer blood group) [HGNC:CD55] (38)  BTB domain containing [HGNC:BTBD] (83)   kelch-like family member 5 [HGNC:KLHL5] (13)  tumor necrosis factor, alpha-induced protein 1 (endothelial) [HGNC:TNFAIP1] (5)  Cadherins [HGNC:CDH] (214)   Cadherins, major [HGNC:MCDH] (189)   cadherin, EGF LAG seven-pass G-type receptor 2 [HGNC:CELSR2] (15)  Cadherins, related [HGNC:CDHR] (55)   ret proto-oncogene [HGNC:RET] (37)  S100 calcium binding proteins [HGNC:S100] (110)   S100 calcium binding protein A10 [HGNC:S100A10] (31)  CD molecules [HGNC:CD] (1459)   5'-nucleotidase, ecto (CD73) [HGNC:NT5E] (24)  atypical chemokine receptor 3 [HGNC:ACKR3] (35)  CD055 molecule, decay accelerating factor for complement (Cromer blood group) [HGNC:CD55] (38)  hyaluronan-mediated motility receptor (RHAMM) [HGNC:HMMR] (41)  integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) [HGNC:ITGA2] (42)  interleukin 01 receptor, type I [HGNC:IL1R1] (52)  L1 cell adhesion molecule [HGNC:L1CAM] (22)  leptin receptor [HGNC:LEPR] (17)  melanoma cell adhesion molecule [HGNC:MCAM] (21)  solute carrier family 07 (amino acid transporter light chain, L system), member 05 [HGNC:SLC7A5] (51)  tumor necrosis factor receptor superfamily, member 12A [HGNC:TNFRSF12A] (39)  tumor necrosis factor receptor superfamily, member 21 [HGNC:TNFRSF21] (36)  Chemokine receptors [HGNC:CR] (207)   Atypical chemokine receptors [HGNC:ACKR] (41)   atypical chemokine receptor 3 [HGNC:ACKR3] (35)  Claudins [HGNC:CLDN] (76)   claudin 01 [HGNC:CLDN1] (34)  claudin 04 [HGNC:CLDN4] (30)  Collagens [HGNC:COL] (230)   collagen, type V, alpha 1 [HGNC:COL5A1] (17)  collagen, type XXI, alpha 1 [HGNC:COL21A1] (8)  Cyclin-dependent kinases [HGNC:CDK] (338)   cyclin-dependent kinase 01 [HGNC:CDK1] (151)  Cytochrome P450s [HGNC:CYP] (1673)   cytochrome P450, family 19, subfamily A, polypeptide 01 [HGNC:CYP19A1] (210)  DNA polymerases [HGNC:POL] (47)   polymerase (DNA directed), delta 1, catalytic subunit [HGNC:POLD1] (16)  polymerase (DNA directed), epsilon, catalytic subunit [HGNC:POLE] (9)  polymerase (DNA-directed), delta 3, accessory subunit [HGNC:POLD3] (16)  EF-hand domain containing [HGNC:EFHAND] (226)   EF-hand domain family, member D1 [HGNC:EFHD1] (13)  Ephrins [HGNC:EFN] (55)   ephrin-A1 [HGNC:EFNA1] (32)  ephrin-B2 [HGNC:EFNB2] (32)  Exostosin glycosyltransferase family [HGNC:EXT] (22)   exostosin glycosyltransferase 1 [HGNC:EXT1] (18)  Fanconi anemia, complementation groups [HGNC:FANC] (81)   Fanconi anemia, complementation group D2 [HGNC:FANCD2] (20)  Fanconi anemia, complementation group G [HGNC:FANCG] (25)  Fanconi anemia, complementation group I [HGNC:FANCI] (28)  Fanconi anemia, complementation group L [HGNC:FANCL] (21)  RAD51 paralog C [HGNC:RAD51C] (30)  Fibronectin type III domain containing [HGNC:FN3] (399)   L1 cell adhesion molecule [HGNC:L1CAM] (22)  neuronal cell adhesion molecule [HGNC:NRCAM] (17)  Fibulins [HGNC:FBLN] (53)   EGF containing fibulin-like extracellular matrix protein 1 [HGNC:EFEMP1] (24)  F-boxes [HGNC:FBX] (66)   F-boxes and leucine-rich repeats [HGNC:FBXL] (58)   S-phase kinase-associated protein 2, E3 ubiquitin protein ligase [HGNC:SKP2] (54)  Forkhead boxes [HGNC:FOX] (139)   forkhead box M1 [HGNC:FOXM1] (33)  forkhead box P2 [HGNC:FOXP2] (12)  GATA zinc finger domain containing [HGNC:GATAD] (101)   GATA binding protein 2 [HGNC:GATA2] (33)  G patch domain containing [HGNC:GPATCH] (46)   RNA binding motif protein 10 [HGNC:RBM10] (6)  G protein-coupled receptors [HGNC:GPCR] (66)   GPCR class B, orphans [HGNC:GPCRBO] (50)   cadherin, EGF LAG seven-pass G-type receptor 2 [HGNC:CELSR2] (15)  High mobility group [HGNC:HMG] (101)   High mobility group, Canonical [HGNC:HMG] (98)   high mobility group AT-hook 1 [HGNC:HMGA1] (34)  high mobility group box 1 [HGNC:HMGB1] (48)  high mobility group box 2 [HGNC:HMGB2] (37)  Histones [HGNC:HIST] (173)   Histones, Replication-independent [HGNC:RIH] (148)   H2A histone family, member X [HGNC:H2AFX] (129)  H3 histone, family 3B (H3.3B) [HGNC:H3F3B] (13)  Histones, Replication-dependent [HGNC:HIST] (59)   histone cluster 1, H1c [HGNC:HIST1H1C] (40)  histone cluster 1, H2bc [HGNC:HIST1H2BC] (14)  Homeoboxes [HGNC:homeobox] (219)   Homeoboxes, ANTP class [HGNC:HOXL] (152)   NKL subclass homeoboxes [HGNC:NKL] (109)   distal-less homeobox 2 [HGNC:DLX2] (23)  Homeoboxes, TALE class [HGNC:TALE] (72)   TGFB-induced factor homeobox 1 [HGNC:TGIF1] (37)  Immunoglobulin superfamily domain containing [HGNC:IGSF] (761)   V-set domain containing [HGNC:VSET] (188)   melanoma cell adhesion molecule [HGNC:MCAM] (21)  C2-set domain containing [HGNC:C2SET] (225)   melanoma cell adhesion molecule [HGNC:MCAM] (21)  I-set domain containing [HGNC:ISET] (447)   interleukin 01 receptor, type I [HGNC:IL1R1] (52)  L1 cell adhesion molecule [HGNC:L1CAM] (22)  neuronal cell adhesion molecule [HGNC:NRCAM] (17)  Immunoglobulin-like domain containing [HGNC:IGD] (645)   interleukin 01 receptor, type I [HGNC:IL1R1] (52)  leptin receptor [HGNC:LEPR] (17)  melanoma cell adhesion molecule [HGNC:MCAM] (21)  neuronal cell adhesion molecule [HGNC:NRCAM] (17)  Integrins [HGNC:ITG] (284)   integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) [HGNC:ITGA2] (42)  Interleukins and interleukin receptors [HGNC:IL] (1294)   interleukin 01 receptor, type I [HGNC:IL1R1] (52)  interleukin 20 [HGNC:IL20] (3)  Intermediate filaments [HGNC:IF] (273)   Type V. Lamins [HGNC:] (81)   lamin B1 [HGNC:LMNB1] (50)  lamin B2 [HGNC:LMNB2] (17)  Intraflagellar transport homologs [HGNC:IFT] (19)   intraflagellar transport 122 homolog (Chlamydomonas) [HGNC:IFT122] (8)  IP3 receptors [HGNC:ITPR] (60)   inositol 1,4,5-trisphosphate receptor, type 1 [HGNC:ITPR1] (44)  K-acetyltransferases [HGNC:KAT] (176)   nuclear receptor coactivator 1 [HGNC:NCOA1] (71)  K-demethylases [HGNC:KDM] (47)   lysine (K)-specific demethylase 4B [HGNC:KDM4B] (21)  K-methyltransferases [HGNC:KMT] (101)   enhancer of zeste homolog 2 (Drosophila) [HGNC:EZH2] (32)  lysine (K)-specific methyltransferase 2E [HGNC:KMT2E] (7)  Kelch-like [HGNC:KLHL] (73)   kelch-like family member 5 [HGNC:KLHL5] (13)  Kinesins [HGNC:KIF] (68)   kinesin family member 05C [HGNC:KIF5C] (12)  kinesin family member 11 [HGNC:KIF11] (29)  Kruppel-like transcription factors [HGNC:KLF] (106)   Kruppel-like factor 06 [HGNC:KLF6] (56)  Kruppel-like factor 12 [HGNC:KLF12] (12)  Lectins, galactoside-binding [HGNC:LGALS] (92)   lectin, galactoside-binding, soluble, 1 [HGNC:LGALS1] (53)  Myocyte enhancer factors [HGNC:MEF2] (41)   myocyte enhancer factor 2A [HGNC:MEF2A] (19)  Myosins [HGNC:myosin] (111)   Myosins, class I [HGNC:MYOI] (30)   myosin IB [HGNC:MYO1B] (20)  Myosins, class V [HGNC:MYOV] (27)   myosin VA (heavy chain 12, myoxin) [HGNC:MYO5A] (17)  myosin VB [HGNC:MYO5B] (10)  Myosins, class VI [HGNC:MYOVI] (20)   myosin VI [HGNC:MYO6] (20)  Neuropeptide receptors [HGNC:NPR] (30)   Neuropeptide S receptors [HGNC:NPSR] (22)   neuropeptide Y receptor Y1 [HGNC:NPY1R] (18)  Nuclear hormone receptors [HGNC:NR] (1322)   nuclear receptor subfamily 1, group I, member 2 [HGNC:NR1I2] (328)  nuclear receptor subfamily 2, group F, member 6 [HGNC:NR2F6] (16)  nuclear receptor subfamily 4, group A, member 2 [HGNC:NR4A2] (48)  Parvins [HGNC:PARV] (6)   parvin, alpha [HGNC:PARVA] (6)  PHD-type zinc fingers [HGNC:PHF] (103)   Fanconi anemia, complementation group L [HGNC:FANCL] (21)  lysine (K)-specific methyltransferase 2E [HGNC:KMT2E] (7)  transcription factor 19 [HGNC:TCF19] (22)  Wolf-Hirschhorn syndrome candidate 1 [HGNC:WHSC1] (17)  Pleckstrin homology (PH) domain containing [HGNC:PLEKH] (227)   A kinase (PRKA) anchor protein 13 [HGNC:AKAP13] (18)  insulin receptor substrate 2 [HGNC:IRS2] (29)  pleckstrin homology-like domain, family A, member 2 [HGNC:PHLDA2] (42)  Rho-associated, coiled-coil containing protein kinase 2 [HGNC:ROCK2] (16)  Poly (ADP-ribose) polymerases [HGNC:PARP] (56)   poly (ADP-ribose) polymerase 2 [HGNC:PARP2] (17)  Protease activated receptors [HGNC:F2R] (81)   coagulation factor II (thrombin) receptor-like 1 [HGNC:F2RL1] (38)  Proteasome (prosome, macropain) subunits [HGNC:PSM] (98)   proteasome (prosome, macropain) 26S subunit, ATPase, 3 [HGNC:PSMC3] (15)  Protein disulfide isomerases [HGNC:PDI] (87)   anterior gradient 2 [HGNC:AGR2] (37)  prolyl 4-hydroxylase, beta polypeptide [HGNC:P4HB] (28)  protein disulfide isomerase family A, member 3 [HGNC:PDIA3] (29)  Protein phosphatase, catalytic and regulatory subunits [HGNC:PPP-PPM-CTD] (225)   Protein phosphatase 1, regulatory subunits [HGNC:PPP1R] (155)   aurora kinase A [HGNC:AURKA] (52)  aurora kinase B [HGNC:AURKB] (47)  Protein phosphatase 2, regulatory subunits [HGNC:PPP2R] (69)   protein phosphatase 2, regulatory subunit B, alpha [HGNC:PPP2R2A] (14)  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 : MAP kinase phosphatases [HGNC:DUSPT] (127)   dual specificity phosphatase 01 [HGNC:DUSP1] (91)  RAB, member RAS oncogene [HGNC:RAB] (69)   RAB08A, member RAS oncogene family [HGNC:RAB8A] (13)  RAB32, member RAS oncogene family [HGNC:RAB32] (16)  Regulators of G-protein signaling [HGNC:RGS] (98)   regulator of G-protein signaling 02, 24kDa [HGNC:RGS2] (44)  Rho guanine nucleotide exchange factors [HGNC:ARHGEF] (105)   A kinase (PRKA) anchor protein 13 [HGNC:AKAP13] (18)  RNA binding motif containing [HGNC:RRM] (251)   heterogeneous nuclear ribonucleoprotein H1 (H) [HGNC:HNRNPH1] (24)  polypyrimidine tract binding protein 1 [HGNC:PTBP1] (13)  RNA binding motif protein 10 [HGNC:RBM10] (6)  RNA binding protein, fox-1 homolog (C. elegans) 2 [HGNC:RBFOX2] (11)  Serine peptidases [HGNC:PRSS] (133)   Serine peptidases, transmembrane [HGNC:TMPRSS] (75)   transmembrane protease, serine 03 [HGNC:TMPRSS3] (12)  SH2 domain containing [HGNC:SH2D] (431)   B-cell linker [HGNC:BLNK] (15)  breast cancer anti-estrogen resistance 3 [HGNC:BCAR3] (25)  suppressor of cytokine signaling 2 [HGNC:SOCS2] (31)  Short chain dehydrogenase/reductase superfamily [HGNC:SDR] (302)   Short chain dehydrogenase/reductase superfamily, Classical fold cluster 2 [HGNC:SDRC2] (140)   hydroxysteroid (17-beta) dehydrogenase 01 [HGNC:HSD17B1] (45)  hydroxysteroid (17-beta) dehydrogenase 06 [HGNC:HSD17B6] (15)  SMADs [HGNC:SMAD] (84)   SMAD family member 2 [HGNC:SMAD2] (33)  SMAD family member 3 [HGNC:SMAD3] (40)  Solute carriers [HGNC:SLC] (716)   solute carrier family 06 (amino acid transporter), member 14 [HGNC:SLC6A14] (18)  solute carrier family 07 (cationic amino acid transporter, y+ system), member 01 [HGNC:SLC7A1] (23)  solute carrier family 07 (amino acid transporter light chain, L system), member 05 [HGNC:SLC7A5] (51)  solute carrier family 07 (anionic amino acid transporter light chain, xc- system), member 11 [HGNC:SLC7A11] (77)  solute carrier family 12 (sodium/potassium/chloride transporter), member 2 [HGNC:SLC12A2] (26)  solute carrier family 29 (equilibrative nucleoside transporter), member 1 [HGNC:SLC29A1] (34)  solute carrier family 37 (glucose-6-phosphate transporter), member 4 [HGNC:SLC37A4] (15)  SRY (sex determining region Y)-boxes [HGNC:SOX] (95)   SRY (sex determining region Y)-box 03 [HGNC:SOX3] (8)  SRY (sex determining region Y)-box 04 [HGNC:SOX4] (39)  SRY (sex determining region Y)-box 09 [HGNC:SOX9] (39)  Structural maintenance of chromosomes proteins [HGNC:SMC] (44)   structural maintenance of chromosomes 1A [HGNC:SMC1A] (20)  structural maintenance of chromosomes 2 [HGNC:SMC2] (25)  Suppressors of cytokine signaling [HGNC:SOCS] (82)   suppressor of cytokine signaling 2 [HGNC:SOCS2] (31)  Tetratricopeptide repeat domain containing [HGNC:TTC] (153)   G-protein signaling modulator 2 [HGNC:GPSM2] (27)  interferon-induced protein with tetratricopeptide repeats 2 [HGNC:IFIT2] (31)  nephronophthisis 3 (adolescent) [HGNC:NPHP3] (4)  Tropomyosins [HGNC:TPM] (66)   tropomyosin 1 (alpha) [HGNC:TPM1] (32)  Tubulins [HGNC:TUB] (87)   tubulin, beta 2A class IIa [HGNC:TUBB2A] (21)  tubulin, gamma 1 [HGNC:TUBG1] (13)  Tudor domain containing [HGNC:TDRD] (64)   lysine (K)-specific demethylase 4B [HGNC:KDM4B] (21)  Tumor necrosis factor receptor superfamily [HGNC:TNFRSF] (295)   tumor necrosis factor receptor superfamily, member 12A [HGNC:TNFRSF12A] (39)  tumor necrosis factor receptor superfamily, member 21 [HGNC:TNFRSF21] (36)  Ubiquitin-conjugating enzymes E2 [HGNC:UBE2] (97)   ubiquitin-conjugating enzyme E2H [HGNC:UBE2H] (17)  Vasopressin/Oxytocin receptors [HGNC:AVPR] (19)   oxytocin receptor [HGNC:OXTR] (19)  WD repeat domain containing [HGNC:WDR] (199)   achalasia, adrenocortical insufficiency, alacrimia [HGNC:AAAS] (5)  bromodomain and WD repeat domain containing 1 [HGNC:BRWD1] (7)  chromatin assembly factor 1, subunit B (p60) [HGNC:CHAF1B] (16)  damage-specific DNA binding protein 2, 48kDa [HGNC:DDB2] (35)  Dmx-like 1 [HGNC:DMXL1] (14)  intraflagellar transport 122 homolog (Chlamydomonas) [HGNC:IFT122] (8)  neurobeachin [HGNC:NBEA] (10)  protein phosphatase 2, regulatory subunit B, alpha [HGNC:PPP2R2A] (14)  PRP4 pre-mRNA processing factor 4 homolog (yeast) [HGNC:PRPF4] (9)  transducin (beta)-like 1X-linked [HGNC:TBL1X] (19)  WD repeat domain, phosphoinositide interacting 1 [HGNC:WIPI1] (42)  ZINC FINGERS [HGNC:ZNF] (383)   Zinc fingers, C2H2-type [HGNC:ZNF] (349)   early growth response 1 [HGNC:EGR1] (140)  early growth response 3 [HGNC:EGR3] (37)  Kruppel-like factor 06 [HGNC:KLF6] (56)  Kruppel-like factor 12 [HGNC:KLF12] (12)  MYC-associated zinc finger protein (purine-binding transcription factor) [HGNC:MAZ] (12)  sal-like 4 (Drosophila) [HGNC:SALL4] (6)  Zinc fingers, C2H2-type with KRAB domain [HGNC:ZKRAB] (42)   zinc finger protein 160 [HGNC:ZNF160] (5)  Other zinc fingers [HGNC:] (148)   Zinc fingers, CCCH-type [HGNC:ZC3H] (17)   zinc finger CCCH-type containing 12A [HGNC:ZC3H12A] (12)  Zinc fingers, RAN binding-type [HGNC:ZRANB] (13)   RNA binding motif protein 10 [HGNC:RBM10] (6) 2. Interaction: Human Genes and Chemicals  2. Interaction: Human Genes and Chemicals  Affects (3990)   cotreatment (1499)  Decreases (5154)   activity (2549)  expression (2187)  reaction (3393)  Increases (5571)   activity (2865)  expression (3238)  secretion (901) A. Anatomy  A. Anatomy  Body Regions [MESH:D001829] (867)   Extremities [MESH:D005121] (484)   Upper Extremity [MESH:D034941] (441)   Hand [MESH:D006225] (428)   Fingers [MESH:D005385] (422)   Popliteal Pterygium Syndrome [MESH:C562509] (33)  Head [MESH:D006257] (523)   Ear [MESH:D004423] (236)   Meier-Gorlin syndrome [MESH:C538012] (133)  Face [MESH:D005145] (387)   Eye [MESH:D005123] (148)   Eyelids [MESH:D005143] (143)   Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42)  Mouth [MESH:D009055] (40)   Lip [MESH:D008046] (39)   Van der Woude syndrome [MESH:C536528] (33)  Musculoskeletal System [MESH:D009141] (1255)   Skeleton [MESH:D012863] (1177)   Bone and Bones [MESH:D001842] (1112)   Cranioectodermal Dysplasia [MESH:C562966] (16)  Bones of Lower Extremity [MESH:D050281] (278)   Leg Bones [MESH:D007867] (228)   Patella [MESH:D010329] (168)   Rapadilino syndrome [MESH:C535288] (30)  Meier-Gorlin syndrome [MESH:C538012] (133)  Bones of Upper Extremity [MESH:D001133] (240)   Arm Bones [MESH:D050280] (183)   Radius [MESH:D011884] (126)   Rapadilino syndrome [MESH:C535288] (30)  Craniosynostosis radial aplasia syndrome [MESH:C536788] (30)  Joints [MESH:D007596] (126)   Knee Joint [MESH:D007719] (38)   Popliteal Pterygium Syndrome [MESH:C562509] (33)  Digestive System [MESH:D004064] (421)   Gastrointestinal Tract [MESH:D041981] (364)   Intestines [MESH:D007422] (271)   Intestine, Large [MESH:D007420] (247)   Anal Canal [MESH:D001003] (217)   Rapadilino syndrome [MESH:C535288] (30)  Lower Gastrointestinal Tract [MESH:D041741] (254)   Intestine, Large [MESH:D007420] (247)   Anal Canal [MESH:D001003] (217)   Rapadilino syndrome [MESH:C535288] (30)  Urogenital System [MESH:D014566] (986)   Genitalia [MESH:D005835] (400)   Genitalia, Male [MESH:D005837] (297)   Testis [MESH:D013737] (92)   Sudden Infant Death with Dysgenesis of the Testes Syndrome [MESH:C563856] (16)  Gonads [MESH:D006066] (91)   Testis [MESH:D013737] (86)   Sudden Infant Death with Dysgenesis of the Testes Syndrome [MESH:C563856] (16)  Urinary Tract [MESH:D014551] (721)   Kidney [MESH:D007668] (707)   Hereditary renal agenesis [MESH:C536482] (89)  Endocrine System [MESH:D004703] (206)   Endocrine Glands [MESH:D004702] (193)   Gonads [MESH:D006066] (99)   Testis [MESH:D013737] (87)   Sudden Infant Death with Dysgenesis of the Testes Syndrome [MESH:C563856] (16)  Nervous System [MESH:D009420] (587)   Central Nervous System [MESH:D002490] (371)   Hydrolethalus Syndrome 1 [MESH:C565504] (14)  Brain [MESH:D001921] (349)   Brain Stem [MESH:D001933] (120)   Mesencephalon [MESH:D008636] (52)   Tegmentum Mesencephali [MESH:D013681] (46)   Cerebral Aqueduct [MESH:D002535] (40)   Hydrocephalus, X-linked [MESH:C536078] (37)  Cerebral Ventricles [MESH:D002552] (51)   Cerebral Aqueduct [MESH:D002535] (40)   Hydrocephalus, X-linked [MESH:C536078] (37)  Mesencephalon [MESH:D008636] (52)   Tegmentum Mesencephali [MESH:D013681] (46)   Cerebral Aqueduct [MESH:D002535] (40)   Hydrocephalus, X-linked [MESH:C536078] (37)  Sense Organs [MESH:D012679] (1060)   Ear [MESH:D004423] (323)   Meier-Gorlin syndrome [MESH:C538012] (133)  Eye [MESH:D005123] (858)   Eyelids [MESH:D005143] (146)   Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42)  Tissues [MESH:D014024] (397)   Connective Tissue [MESH:D003238] (173)   Bone and Bones [MESH:D001842] (149)   Cranioectodermal Dysplasia [MESH:C562966] (16)  Cells [MESH:D002477] (1885)   Cellular Structures [MESH:D022082] (1562)   Cell Surface Extensions [MESH:D022081] (43)   Microvilli [MESH:D008871] (29)   Microvillus inclusion disease [MESH:C537470] (28)  Chromosomes [MESH:D002875] (1300)   Chromosomes, Mammalian [MESH:D033481] (1282)   Chromosomes, Human [MESH:D002877] (1280)   Chromosomes, Human, 1-3 [MESH:D002900] (128)   Chromosomes, Human, Pair 3 [MESH:D002893] (90)   Chromosome 3, monosomy 3p25 [MESH:C536807] (76)  Stomatognathic System [MESH:D013284] (673)   Mouth [MESH:D009055] (194)   Lip [MESH:D008046] (42)   Van der Woude syndrome [MESH:C536528] (33) C01. Bacterial Infections and Mycoses  C01. Bacterial Infections and Mycoses  Bacterial Infections [MESH:D001424] (3716)   Gram-Positive Bacterial Infections [MESH:D016908] (2434)   Actinomycetales Infections [MESH:D000193] (1466)   Mycobacterium Infections [MESH:D009164] (1446)   Leprosy [MESH:D007918] (261)  Infection [MESH:D007239] (4109)   Respiratory Tract Infections [MESH:D012141] (199)  Intraabdominal Infections [MESH:D059413] (958)   Peritonitis [MESH:D010538] (800)  Opportunistic Infections [MESH:D009894] (949)   AIDS-Related Opportunistic Infections [MESH:D017088] (944)   AIDS-related Kaposi sarcoma [MESH:C554498] (914) C02. Virus Diseases  C02. Virus Diseases  Virus Diseases [MESH:D014777] (4544)   DNA Virus Infections [MESH:D004266] (2474)   Herpesviridae Infections [MESH:D006566] (1944)   Epstein-Barr Virus Infections [MESH:D020031] (695)   Burkitt Lymphoma [MESH:D002051] (691)  Sarcoma, Kaposi [MESH:D012514] (1578)   AIDS-related Kaposi sarcoma [MESH:C554498] (914)  Hepatitis, Viral, Human [MESH:D006525] (1766)   Hepatitis C [MESH:D006526] (1627)  Opportunistic Infections [MESH:D009894] (949)   AIDS-Related Opportunistic Infections [MESH:D017088] (944)   AIDS-related Kaposi sarcoma [MESH:C554498] (914)  RNA Virus Infections [MESH:D012327] (4215)   Flaviviridae Infections [MESH:D018178] (1656)   Hepatitis C [MESH:D006526] (1627)  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)   AIDS-Related Opportunistic Infections [MESH:D017088] (944)   AIDS-related Kaposi sarcoma [MESH:C554498] (914)  Sexually Transmitted Diseases [MESH:D012749] (3305)   Sexually Transmitted Diseases, Viral [MESH:D015229] (3304)   HIV Infections [MESH:D015658] (3296)  Tumor Virus Infections [MESH:D014412] (1069)   Epstein-Barr Virus Infections [MESH:D020031] (693)   Burkitt Lymphoma [MESH:D002051] (691) C03. Parasitic Diseases  C03. Parasitic Diseases  Parasitic Diseases [MESH:D010272] (3828)   Liver Diseases, Parasitic [MESH:D008109] (1009)  Opportunistic Infections [MESH:D009894] (949)   AIDS-Related Opportunistic Infections [MESH:D017088] (944)   AIDS-related Kaposi sarcoma [MESH:C554498] (914) C04. Neoplasms  C04. Neoplasms  Neoplasms [MESH:D009369] (10293)   Hamartoma [MESH:D006222] (1484)  Cysts [MESH:D003560] (2625)   Van der Woude syndrome [MESH:C536528] (33)  Follicular Cyst [MESH:D005497] (151)  Arachnoid Cysts [MESH:D016080] (50)   Chudley-Mccullough syndrome [MESH:C535459] (45)  Ovarian Cysts [MESH:D010048] (2534)   Polycystic Ovary Syndrome [MESH:D011085] (2186)  Pancreatic Cyst [MESH:D010181] (18)   Renal hepatic pancreatic dysplasia Dandy Walker cyst [MESH:C537756] (11)  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)  Precursor Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054198] (1754)   Precursor T-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054218] (510)  Leukemia, Myeloid [MESH:D007951] (2773)   Leukemia, Myelogenous, Chronic, BCR-ABL Positive [MESH:D015464] (1032)  Leukemia, Myelomonocytic, Acute [MESH:D015479] (85)  Leukemia, Myeloid, Acute [MESH:D015470] (2176)   Leukemia, Megakaryoblastic, Acute [MESH:D007947] (279)  Lymphatic Vessel Tumors [MESH:D018190] (171)   Lymphangiomyoma [MESH:D008203] (163)   Lymphangioleiomyomatosis [MESH:D018192] (162)  Lymphoma [MESH:D008223] (3686)   Lymphoma, Non-Hodgkin [MESH:D008228] (3337)   Burkitt Lymphoma [MESH:D002051] (691)  Lymphoma, Follicular [MESH:D008224] (1025)  Lymphoma, Large-Cell, Anaplastic [MESH:D017728] (420)  Lymphoma, B-Cell [MESH:D016393] (2624)   Burkitt Lymphoma [MESH:D002051] (691)  Lymphoma, Large B-Cell, Diffuse [MESH:D016403] (2012)  Lymphoma, T-Cell [MESH:D016399] (1405)   Lymphoma, Large-Cell, Anaplastic [MESH:D017728] (420)  Neoplasms, Complex and Mixed [MESH:D018193] (1121)   Hepatoblastoma [MESH:D018197] (548)  Wilms Tumor [MESH:D009396] (553)  Neoplasms, Connective and Soft Tissue [MESH:D018204] (4742)   Neoplasms, Connective Tissue [MESH:D009372] (3626)   Sarcoma, Synovial [MESH:D013584] (993)  Chondrosarcoma [MESH:D002813] (1217)   Chondrosarcoma, Mesenchymal [MESH:D018211] (1161)  Neoplasms, Bone Tissue [MESH:D018213] (2217)   Osteosarcoma [MESH:D012516] (2175)  Osteochondroma [MESH:D015831] (157)   Osteochondromatosis [MESH:D018216] (155)   Exostoses, Multiple Hereditary [MESH:D005097] (154)  Neoplasms, Muscle Tissue [MESH:D009379] (1965)   Leiomyosarcoma [MESH:D007890] (977)  Myosarcoma [MESH:D009217] (790)   Rhabdomyosarcoma [MESH:D012208] (789)   Rhabdomyosarcoma, Embryonal [MESH:D018233] (98)  Perivascular Epithelioid Cell Neoplasms [MESH:D054973] (165)   Lymphangioleiomyomatosis [MESH:D018192] (162)  Sarcoma [MESH:D012509] (4246)   Hemangiosarcoma [MESH:D006394] (1836)  Leiomyosarcoma [MESH:D007890] (977)  Osteosarcoma [MESH:D012516] (2175)  Sarcoma, Synovial [MESH:D013584] (993)  Chondrosarcoma [MESH:D002813] (1217)   Chondrosarcoma, Mesenchymal [MESH:D018211] (1161)  Myosarcoma [MESH:D009217] (790)   Rhabdomyosarcoma [MESH:D012208] (789)   Rhabdomyosarcoma, Embryonal [MESH:D018233] (98)  Sarcoma, Kaposi [MESH:D012514] (1578)   AIDS-related Kaposi sarcoma [MESH:C554498] (914)  Neoplasms, Germ Cell and Embryonal [MESH:D009373] (5126)   Neuroectodermal Tumors [MESH:D017599] (5066)   Neoplasms, Neuroepithelial [MESH:D018302] (4487)   Glioma [MESH:D005910] (4261)   Gliosarcoma [MESH:D018316] (880)  Medulloblastoma [MESH:D008527] (1282)  Oligodendroglioma [MESH:D009837] (241)  Astrocytoma [MESH:D001254] (2692)   Glioblastoma [MESH:D005909] (2554)  Neuroectodermal Tumors, Primitive [MESH:D018242] (2005)   Medulloblastoma [MESH:D008527] (1282)  Neuroectodermal Tumors, Primitive, Peripheral [MESH:D018241] (1433)   Neuroblastoma [MESH:D009447] (1420)  Neuroendocrine Tumors [MESH:D018358] (3633)   Melanoma [MESH:D008545] (3508)  Carcinoma, Neuroendocrine [MESH:D018278] (262)   Carcinoma, Medullary [MESH:D018276] (181)   Familial medullary thyroid carcinoma [MESH:C536911] (101)  Paraganglioma [MESH:D010235] (297)   Pheochromocytoma [MESH:D010673] (275)  Neoplasms, Glandular and Epithelial [MESH:D009375] (7760)   Adenoma [MESH:D000236] (4051)   ACTH-Secreting Pituitary Adenoma [MESH:D049913] (169)  Growth Hormone-Secreting Pituitary Adenoma [MESH:D049912] (383)  Mesothelioma [MESH:D008654] (2567)  Adenoma, Oxyphilic [MESH:D018249] (115)   Oncocytoma, renal [MESH:C537750] (35)  Carcinoma [MESH:D002277] (7263)   Keratoacanthoma familial [MESH:C536150] (78)  Carcinoma, Small Cell [MESH:D018288] (1317)  Carcinoma, Transitional Cell [MESH:D002295] (2662)  Adenocarcinoma [MESH:D000230] (6565)   Adenocarcinoma of lung [MESH:C538231] (1487)  Adenocarcinoma, Clear Cell [MESH:D018262] (1291)  Carcinoma, Adenoid Cystic [MESH:D003528] (1561)  Carcinoma, Hepatocellular [MESH:D006528] (5375)  Carcinoma, Renal Cell [MESH:D002292] (2975)  Cholangiocarcinoma [MESH:D018281] (2398)  Carcinoma, Ductal [MESH:D044584] (1786)   Carcinoma, Ductal, Breast [MESH:D018270] (1112)  Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)  Carcinoma, Neuroendocrine [MESH:D018278] (262)   Carcinoma, Medullary [MESH:D018276] (181)   Familial medullary thyroid carcinoma [MESH:C536911] (101)  Carcinoma in Situ [MESH:D002278] (2111)   Prostatic Intraepithelial Neoplasia [MESH:D019048] (1565)  Carcinoma, Squamous Cell [MESH:D002294] (4294)   Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)  Neoplasms, Ductal, Lobular, and Medullary [MESH:D018299] (1831)   Carcinoma, Ductal [MESH:D044584] (1786)   Carcinoma, Ductal, Breast [MESH:D018270] (1112)  Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)  Carcinoma, Medullary [MESH:D018276] (181)   Familial medullary thyroid carcinoma [MESH:C536911] (101)  Neoplasms, Mesothelial [MESH:D018301] (2569)   Mesothelioma [MESH:D008654] (2567)  Neoplasms, Neuroepithelial [MESH:D018302] (4487)   Glioma [MESH:D005910] (4261)   Gliosarcoma [MESH:D018316] (880)  Medulloblastoma [MESH:D008527] (1282)  Oligodendroglioma [MESH:D009837] (241)  Astrocytoma [MESH:D001254] (2692)   Glioblastoma [MESH:D005909] (2554)  Neuroectodermal Tumors, Primitive [MESH:D018242] (2005)   Medulloblastoma [MESH:D008527] (1282)  Neuroectodermal Tumors, Primitive, Peripheral [MESH:D018241] (1433)   Neuroblastoma [MESH:D009447] (1420)  Neoplasms, Squamous Cell [MESH:D018307] (4457)   Papilloma [MESH:D010212] (2243)  Carcinoma, Squamous Cell [MESH:D002294] (4294)   Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)  Neoplasms, Nerve Tissue [MESH:D009380] (5201)   Meningioma [MESH:D008579] (978)  Neuroectodermal Tumors [MESH:D017599] (5059)   Neoplasms, Neuroepithelial [MESH:D018302] (4487)   Glioma [MESH:D005910] (4261)   Gliosarcoma [MESH:D018316] (880)  Medulloblastoma [MESH:D008527] (1282)  Oligodendroglioma [MESH:D009837] (241)  Astrocytoma [MESH:D001254] (2692)   Glioblastoma [MESH:D005909] (2554)  Neuroectodermal Tumors, Primitive [MESH:D018242] (2005)   Medulloblastoma [MESH:D008527] (1282)  Neuroectodermal Tumors, Primitive, Peripheral [MESH:D018241] (1433)   Neuroblastoma [MESH:D009447] (1420)  Neuroendocrine Tumors [MESH:D018358] (3625)   Melanoma [MESH:D008545] (3508)  Carcinoma, Neuroendocrine [MESH:D018278] (184)   Carcinoma, Medullary [MESH:D018276] (181)   Familial medullary thyroid carcinoma [MESH:C536911] (101)  Paraganglioma [MESH:D010235] (297)   Pheochromocytoma [MESH:D010673] (275)  Neoplasms, Plasma Cell [MESH:D054219] (2772)   Multiple Myeloma [MESH:D009101] (2767)  Neoplasms, Vascular Tissue [MESH:D009383] (2959)   Hemangiosarcoma [MESH:D006394] (1836)  Meningioma [MESH:D008579] (978)  Hemangioma [MESH:D006391] (690)   Hemangioma, Capillary [MESH:D018324] (503)   Hemangioma, capillary infantile [MESH:C535860] (190)  Sarcoma, Kaposi [MESH:D012514] (1578)   AIDS-related Kaposi sarcoma [MESH:C554498] (914)  Nevi and Melanomas [MESH:D018326] (3572)   Melanoma [MESH:D008545] (3508)  Neoplasms by Site [MESH:D009371] (9169)   Bone Neoplasms [MESH:D001859] (1334)  Soft Tissue Neoplasms [MESH:D012983] (2003)  Breast Neoplasms [MESH:D001943] (6077)   Breast Neoplasms, Male [MESH:D018567] (650)  Carcinoma, Ductal, Breast [MESH:D018270] (1112)  Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)  Digestive System Neoplasms [MESH:D004067] (7487)   Biliary Tract Neoplasms [MESH:D001661] (1165)   Gallbladder Neoplasms [MESH:D005706] (993)  Gastrointestinal Neoplasms [MESH:D005770] (6452)   Stomach Neoplasms [MESH:D013274] (4942)  Esophageal Neoplasms [MESH:D004938] (3737)   Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)  Intestinal Neoplasms [MESH:D007414] (5358)   Colorectal Neoplasms [MESH:D015179] (5294)   Turcot syndrome [MESH:C536928] (159)  Colonic Neoplasms [MESH:D003110] (4405)  Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258)  Rectal Neoplasms [MESH:D012004] (717)  Liver Neoplasms [MESH:D008113] (6048)   Carcinoma, Hepatocellular [MESH:D006528] (5375)  Liver Neoplasms, Experimental [MESH:D008114] (2837)  Pancreatic Neoplasms [MESH:D010190] (3820)   Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)  Endocrine Gland Neoplasms [MESH:D004701] (4925)   Multiple Endocrine Neoplasia [MESH:D009377] (375)   Multiple Endocrine Neoplasia Type 2b [MESH:D018814] (75)  Multiple Endocrine Neoplasia Type 2a [MESH:D018813] (102)   Familial medullary thyroid carcinoma [MESH:C536911] (101)  Ovarian Neoplasms [MESH:D010051] (3275)   Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)  Pancreatic Neoplasms [MESH:D010190] (3820)   Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)  Pituitary Neoplasms [MESH:D010911] (981)   ACTH-Secreting Pituitary Adenoma [MESH:D049913] (172)  Growth Hormone-Secreting Pituitary Adenoma [MESH:D049912] (383)  Thyroid Neoplasms [MESH:D013964] (2040)   Familial medullary thyroid carcinoma [MESH:C536911] (101)  Thyroid cancer, medullary [MESH:C536914] (74)  Head and Neck Neoplasms [MESH:D006258] (4612)   Esophageal Neoplasms [MESH:D004938] (3737)   Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)  Mouth Neoplasms [MESH:D009062] (2263)   Salivary Gland Neoplasms [MESH:D012468] (968)  Tongue Neoplasms [MESH:D014062] (1518)  Thyroid Neoplasms [MESH:D013964] (2040)   Familial medullary thyroid carcinoma [MESH:C536911] (101)  Thyroid cancer, medullary [MESH:C536914] (74)  Mammary Neoplasms, Animal [MESH:D015674] (3404)   Mammary Neoplasms, Experimental [MESH:D008325] (3268)  Nervous System Neoplasms [MESH:D009423] (3130)   Central Nervous System Neoplasms [MESH:D016543] (3055)   Brain Neoplasms [MESH:D001932] (2764)   Turcot syndrome [MESH:C536928] (159)  Central Nervous System Cysts [MESH:D020863] (57)   Arachnoid Cysts [MESH:D016080] (50)   Chudley-Mccullough syndrome [MESH:C535459] (45)  Meningeal Neoplasms [MESH:D008577] (984)   Meningioma [MESH:D008579] (978)  Skin Neoplasms [MESH:D012878] (2992)   Sebaceous Gland Neoplasms [MESH:D012626] (154)   Muir-Torre Syndrome [MESH:D055653] (102)  Thoracic Neoplasms [MESH:D013899] (6032)   Respiratory Tract Neoplasms [MESH:D012142] (6020)   Lung Neoplasms [MESH:D008175] (6015)   Adenocarcinoma of lung [MESH:C538231] (1487)  Bronchial Neoplasms [MESH:D001984] (3608)   Carcinoma, Bronchogenic [MESH:D002283] (3606)   Carcinoma, Non-Small-Cell Lung [MESH:D002289] (3540)  Small Cell Lung Carcinoma [MESH:D055752] (1380)  Urogenital Neoplasms [MESH:D014565] (7002)   Genital Neoplasms, Female [MESH:D005833] (2540)   Uterine Neoplasms [MESH:D014594] (2431)   Endometrial Neoplasms [MESH:D016889] (1987)  Uterine Cervical Neoplasms [MESH:D002583] (978)  Genital Neoplasms, Male [MESH:D005834] (6224)   Prostatic Neoplasms [MESH:D011471] (6135)   Prostate cancer, familial [MESH:C537243] (264)  Urologic Neoplasms [MESH:D014571] (5315)   Urinary Bladder Neoplasms [MESH:D001749] (4079)  Kidney Neoplasms [MESH:D007680] (3966)   Oncocytoma, renal [MESH:C537750] (35)  Carcinoma, Renal Cell [MESH:D002292] (2975)  Wilms Tumor [MESH:D009396] (553)  Neoplasms, Experimental [MESH:D009374] (5218)   Liver Neoplasms, Experimental [MESH:D008114] (2837)  Mammary Neoplasms, Experimental [MESH:D008325] (3268)  Tumor Virus Infections [MESH:D014412] (697)   Epstein-Barr Virus Infections [MESH:D020031] (693)   Burkitt Lymphoma [MESH:D002051] (691)  Neoplasms, Multiple Primary [MESH:D009378] (961)   Multiple Endocrine Neoplasia [MESH:D009377] (375)   Multiple Endocrine Neoplasia Type 2b [MESH:D018814] (75)  Multiple Endocrine Neoplasia Type 2a [MESH:D018813] (102)   Familial medullary thyroid carcinoma [MESH:C536911] (101)  Neoplastic Processes [MESH:D009385] (5317)   Neoplasm Invasiveness [MESH:D009361] (3388)  Neoplasm Recurrence, Local [MESH:D009364] (1949)  Carcinogenesis [MESH:D063646] (3391)   Cell Transformation, Neoplastic [MESH:D002471] (3389)  Neoplasm Metastasis [MESH:D009362] (4441)   Lymphatic Metastasis [MESH:D008207] (917)  Neoplastic Syndromes, Hereditary [MESH:D009386] (2578)   Hemangioma, capillary infantile [MESH:C535860] (190)  Turcot syndrome [MESH:C536928] (159)  Birt-Hogg-Dube Syndrome [MESH:D058249] (35)  Exostoses, Multiple Hereditary [MESH:D005097] (154)  Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)  Li-Fraumeni Syndrome [MESH:D016864] (859)  Wilms Tumor [MESH:D009396] (553)  Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (260)   Lynch Syndrome II [MESH:D055847] (103)   Muir-Torre Syndrome [MESH:D055653] (102)  Multiple Endocrine Neoplasia [MESH:D009377] (375)   Multiple Endocrine Neoplasia Type 2b [MESH:D018814] (75)  Multiple Endocrine Neoplasia Type 2a [MESH:D018813] (102)   Familial medullary thyroid carcinoma [MESH:C536911] (101)  Precancerous Conditions [MESH:D011230] (2858)   Xeroderma Pigmentosum [MESH:D014983] (213)   Xeroderma Pigmentosum, Complementation Group E [MESH:C564732] (38)  Tumor Virus Infections [MESH:D014412] (759)   Epstein-Barr Virus Infections [MESH:D020031] (693)   Burkitt Lymphoma [MESH:D002051] (691) C05. Musculoskeletal Diseases  C05. Musculoskeletal Diseases  Musculoskeletal Diseases [MESH:D009140] (8705)   Bone Diseases [MESH:D001847] (5801)   Bone Neoplasms [MESH:D001859] (1334)  Bone Resorption [MESH:D001862] (2352)  Osteitis Deformans [MESH:D010001] (287)  Bone Diseases, Developmental [MESH:D001848] (3315)   Acromicric dysplasia [MESH:C535662] (520)  Dwarfism [MESH:D004392] (778)   Rapadilino syndrome [MESH:C535288] (30)  Seckel syndrome 1 [MESH:C537533] (63)  Seckel syndrome 2 [MESH:C537534] (7)  Microcephalic Osteodysplastic Primordial Dwarfism, Type II [MESH:C565898] (7)  Dysostoses [MESH:D004413] (1019)   Synostosis [MESH:D013580] (817)   Craniosynostoses [MESH:D003398] (438)   Craniosynostosis radial aplasia syndrome [MESH:C536788] (30)  Cranioectodermal Dysplasia [MESH:C562966] (16)  Acrocephalosyndactylia [MESH:D000168] (201)   Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42)  Syndactyly [MESH:D013576] (487)   Popliteal Pterygium Syndrome [MESH:C562509] (33)  Acrocephalosyndactylia [MESH:D000168] (201)   Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42)  Osteochondrodysplasias [MESH:D010009] (2440)   Epiphyseal dysplasia, multiple, 5 [MESH:C535505] (18)  Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related [MESH:C563869] (18)  Microcephalic Osteodysplastic Primordial Dwarfism, Type II [MESH:C565898] (7)  Spondyloepimetaphyseal Dysplasia, Pakistani Type [MESH:C567551] (63)  Chondrodysplasia Punctata [MESH:D002806] (108)   Chondrodysplasia punctata 2, X-linked dominant [MESH:C538416] (61)  Fibrous Dysplasia of Bone [MESH:D005357] (737)   Fibrous Dysplasia, Polyostotic [MESH:D005359] (82)  Osteochondroma [MESH:D015831] (157)   Osteochondromatosis [MESH:D018216] (155)   Exostoses, Multiple Hereditary [MESH:D005097] (154)  Osteogenesis Imperfecta [MESH:D010013] (481)   Bruck syndrome 2 [MESH:C537407] (64)  Bone Diseases, Endocrine [MESH:D001849] (747)   Acromegaly [MESH:D000172] (466)  Bone Diseases, Metabolic [MESH:D001851] (3492)   Osseous Heteroplasia, Progressive [MESH:C562735] (82)  Osteoporosis [MESH:D010024] (3037)  Mucolipidoses [MESH:D009081] (78)   Microvillus inclusion disease [MESH:C537470] (28)  Pseudohypoparathyroidism [MESH:D011547] (88)   Albright's hereditary osteodystrophy [MESH:C537045] (82)  Pseudohypoparathyroidism Type 1B [MESH:C548075] (82)  Pseudopseudohypoparathyroidism [MESH:D011556] (82)  Rickets [MESH:D012279] (341)   Rickets, Hypophosphatemic [MESH:D063730] (276)   Familial Hypophosphatemic Rickets [MESH:D053098] (274)   Vitamin D Hydroxylation-Deficient Rickets, Type 1B [MESH:C564005] (25)  Hyperostosis [MESH:D015576] (493)   Exostoses [MESH:D005096] (160)   Exostoses, Multiple Hereditary [MESH:D005097] (154)  Spinal Diseases [MESH:D013122] (2485)   Spinal Curvatures [MESH:D013121] (742)   Kyphosis [MESH:D007738] (637)  Spondylitis [MESH:D013166] (1924)   Spondylarthritis [MESH:D025241] (1912)   Spondylarthropathies [MESH:D025242] (1909)   Spondylitis, Ankylosing [MESH:D013167] (431)  Cartilage Diseases [MESH:D002357] (438)   Keutel syndrome [MESH:C536167] (102)  Foot Deformities [MESH:D005530] (553)   Foot Deformities, Congenital [MESH:D005532] (538)   Clubfoot [MESH:D003025] (79)   TARP syndrome [MESH:C536942] (18)  Hand Deformities [MESH:D006226] (590)   Hand Deformities, Congenital [MESH:D006228] (587)   Oculootoradial syndrome [MESH:C535544] (14)  Keutel syndrome [MESH:C536167] (102)  Jaw Diseases [MESH:D007571] (1601)   Jaw Abnormalities [MESH:D007569] (1435)   Cleft Palate [MESH:D002972] (1330)   Van der Woude syndrome [MESH:C536528] (33)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Micrognathism [MESH:D008844] (230)   Meier-Gorlin syndrome [MESH:C538012] (133)  Pierre Robin Syndrome [MESH:D010855] (101)   TARP syndrome [MESH:C536942] (18)  Joint Diseases [MESH:D007592] (4657)   Calcification of Joints and Arteries [MESH:C565891] (60)  Ankylosis [MESH:D000844] (479)   Spondylitis, Ankylosing [MESH:D013167] (431)  Arthritis [MESH:D001168] (4416)   Arthritis, Experimental [MESH:D001169] (3142)  Arthritis, Rheumatoid [MESH:D001172] (3603)  Osteoarthritis [MESH:D010003] (1743)  Spondylarthritis [MESH:D025241] (1912)   Spondylarthropathies [MESH:D025242] (1909)   Spondylitis, Ankylosing [MESH:D013167] (431)  Arthrogryposis [MESH:D001176] (329)   Lethal congenital contracture syndrome 1 [MESH:C537194] (14)  Bruck syndrome 2 [MESH:C537407] (64)  Lethal Arthrogryposis With Anterior Horn Cell Disease [MESH:C567502] (14)  Muscular Diseases [MESH:D009135] (4071)   Arthrogryposis [MESH:D001176] (329)   Lethal congenital contracture syndrome 1 [MESH:C537194] (14)  Bruck syndrome 2 [MESH:C537407] (64)  Lethal Arthrogryposis With Anterior Horn Cell Disease [MESH:C567502] (14)  Mitochondrial Myopathies [MESH:D017240] (2176)   Mitochondrial Encephalomyopathies [MESH:D017237] (1121)  Muscular Disorders, Atrophic [MESH:D020966] (1598)   Muscular Dystrophies [MESH:D009136] (1593)   Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854)  Muscular Dystrophies, Limb-Girdle [MESH:D049288] (259)   Sarcoglycanopathies [MESH:D058088] (49)   Limb-girdle muscular dystrophy, type 2C [MESH:C535900] (20)  Musculoskeletal Abnormalities [MESH:D009139] (3796)   Campomelic Dysplasia [MESH:D055036] (75)  Arthrogryposis [MESH:D001176] (329)   Lethal congenital contracture syndrome 1 [MESH:C537194] (14)  Bruck syndrome 2 [MESH:C537407] (64)  Lethal Arthrogryposis With Anterior Horn Cell Disease [MESH:C567502] (14)  Craniofacial Abnormalities [MESH:D019465] (3098)   Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)  Silver-Russell Syndrome [MESH:D056730] (142)  Craniosynostoses [MESH:D003398] (438)   Craniosynostosis radial aplasia syndrome [MESH:C536788] (30)  Cranioectodermal Dysplasia [MESH:C562966] (16)  Acrocephalosyndactylia [MESH:D000168] (201)   Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42)  Holoprosencephaly [MESH:D016142] (218)   Holoprosencephaly 4 [MESH:C564180] (70)  Loeys-Dietz Syndrome [MESH:D055947] (263)   Loeys-Dietz Syndrome, Type 2A [MESH:C567156] (78)  Maxillofacial Abnormalities [MESH:D019767] (1447)   Jaw Abnormalities [MESH:D007569] (1438)   Cleft Palate [MESH:D002972] (1330)   Van der Woude syndrome [MESH:C536528] (33)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Micrognathism [MESH:D008844] (230)   Meier-Gorlin syndrome [MESH:C538012] (133)  Pierre Robin Syndrome [MESH:D010855] (101)   TARP syndrome [MESH:C536942] (18)  Microcephaly [MESH:D008831] (700)   Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Seckel syndrome 1 [MESH:C537533] (63)  Seckel syndrome 2 [MESH:C537534] (7)  Microcephalic Osteodysplastic Primordial Dwarfism, Type II [MESH:C565898] (7)  Plagiocephaly [MESH:D059041] (440)   Craniosynostoses [MESH:D003398] (438)   Craniosynostosis radial aplasia syndrome [MESH:C536788] (30)  Cranioectodermal Dysplasia [MESH:C562966] (16)  Acrocephalosyndactylia [MESH:D000168] (201)   Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42)  Limb Deformities, Congenital [MESH:D017880] (1813)   Rapadilino syndrome [MESH:C535288] (30)  Acromicric dysplasia [MESH:C535662] (520)  Brachydactyly [MESH:D059327] (220)  Lower Extremity Deformities, Congenital [MESH:D038061] (560)   Popliteal Pterygium Syndrome [MESH:C562509] (33)  Foot Deformities, Congenital [MESH:D005532] (538)   Clubfoot [MESH:D003025] (79)   TARP syndrome [MESH:C536942] (18)  Polydactyly [MESH:D017689] (318)   Hydrolethalus Syndrome 1 [MESH:C565504] (14)  Syndactyly [MESH:D013576] (487)   Popliteal Pterygium Syndrome [MESH:C562509] (33)  Acrocephalosyndactylia [MESH:D000168] (201)   Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42)  Upper Extremity Deformities, Congenital [MESH:D038062] (604)   Hand Deformities, Congenital [MESH:D006228] (587)   Oculootoradial syndrome [MESH:C535544] (14)  Keutel syndrome [MESH:C536167] (102)  Synostosis [MESH:D013580] (817)   Craniosynostoses [MESH:D003398] (438)   Craniosynostosis radial aplasia syndrome [MESH:C536788] (30)  Cranioectodermal Dysplasia [MESH:C562966] (16)  Acrocephalosyndactylia [MESH:D000168] (201)   Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42)  Syndactyly [MESH:D013576] (487)   Popliteal Pterygium Syndrome [MESH:C562509] (33)  Acrocephalosyndactylia [MESH:D000168] (201)   Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42)  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)   Alagille Syndrome [MESH:D016738] (105)  Cholangitis [MESH:D002761] (203)   Cholangitis, Sclerosing [MESH:D015209] (93)   Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78)  Biliary Tract Neoplasms [MESH:D001661] (1165)   Gallbladder Neoplasms [MESH:D005706] (993)  Cholelithiasis [MESH:D002769] (373)   Gallstones [MESH:D042882] (350)  Gallbladder Diseases [MESH:D005705] (1215)   Gallbladder Neoplasms [MESH:D005706] (993)  Cholecystolithiasis [MESH:D041761] (353)   Gallstones [MESH:D042882] (350)  Digestive System Abnormalities [MESH:D004065] (2127)   Hirschsprung Disease [MESH:D006627] (361)  Anus, Imperforate [MESH:D001006] (140)   Oculootoradial syndrome [MESH:C535544] (14)  Digestive System Neoplasms [MESH:D004067] (7493)   Biliary Tract Neoplasms [MESH:D001661] (1165)   Gallbladder Neoplasms [MESH:D005706] (993)  Gastrointestinal Neoplasms [MESH:D005770] (6460)   Stomach Neoplasms [MESH:D013274] (4942)  Esophageal Neoplasms [MESH:D004938] (3737)   Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)  Intestinal Neoplasms [MESH:D007414] (5359)   Colorectal Neoplasms [MESH:D015179] (5294)   Turcot syndrome [MESH:C536928] (159)  Colonic Neoplasms [MESH:D003110] (4405)  Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258)  Rectal Neoplasms [MESH:D012004] (717)  Liver Neoplasms [MESH:D008113] (6048)   Carcinoma, Hepatocellular [MESH:D006528] (5375)  Liver Neoplasms, Experimental [MESH:D008114] (2837)  Pancreatic Neoplasms [MESH:D010190] (3820)   Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)  Gastrointestinal Diseases [MESH:D005767] (7443)   Esophageal Diseases [MESH:D004935] (4255)   Deglutition Disorders [MESH:D003680] (1538)   Esophageal Motility Disorders [MESH:D015154] (1489)   Esophageal Achalasia [MESH:D004931] (29)   Achalasia Addisonianism Alacrimia syndrome [MESH:C536008] (24)  Esophageal Neoplasms [MESH:D004938] (3737)   Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)  Gastroenteritis [MESH:D005759] (4066)   Mucositis [MESH:D052016] (1238)  Inflammatory Bowel Diseases [MESH:D015212] (3492)   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)  Intestinal Neoplasms [MESH:D007414] (5359)   Colorectal Neoplasms [MESH:D015179] (5294)   Turcot syndrome [MESH:C536928] (159)  Colonic Neoplasms [MESH:D003110] (4405)  Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258)  Rectal Neoplasms [MESH:D012004] (717)  Intestinal Diseases [MESH:D007410] (6206)   Colonic Diseases [MESH:D003108] (5564)   Colorectal Neoplasms [MESH:D015179] (5282)   Turcot syndrome [MESH:C536928] (159)  Colonic Neoplasms [MESH:D003110] (4405)  Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258)  Megacolon [MESH:D008531] (386)   Hirschsprung Disease [MESH:D006627] (361)  Inflammatory Bowel Diseases [MESH:D015212] (3492)   Crohn Disease [MESH:D003424] (2585)  Intestinal Neoplasms [MESH:D007414] (5359)   Colorectal Neoplasms [MESH:D015179] (5294)   Turcot syndrome [MESH:C536928] (159)  Colonic Neoplasms [MESH:D003110] (4405)  Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258)  Rectal Neoplasms [MESH:D012004] (717)  Malabsorption Syndromes [MESH:D008286] (492)   Microvillus inclusion disease [MESH:C537470] (28)  Lactose Intolerance [MESH:D007787] (113)   Lactose Intolerance, Adult Type [MESH:C562601] (112)  Rectal Diseases [MESH:D012002] (4596)   Colorectal Neoplasms [MESH:D015179] (4534)   Turcot syndrome [MESH:C536928] (159)  Rectal Neoplasms [MESH:D012004] (717)  Peptic Ulcer [MESH:D010437] (3172)   Stomach Ulcer [MESH:D013276] (2915)  Stomach Diseases [MESH:D013272] (5325)   Stomach Neoplasms [MESH:D013274] (4942)  Peptic Ulcer [MESH:D010437] (2994)   Stomach Ulcer [MESH:D013276] (2915)  Liver Diseases [MESH:D008107] (8167)   Drug-Induced Liver Injury [MESH:D056486] (4936)  Hepatomegaly [MESH:D006529] (1169)  Hypertension, Portal [MESH:D006975] (869)  Liver Diseases, Parasitic [MESH:D008109] (1009)  Cholestasis, Intrahepatic [MESH:D002780] (1510)   Alagille Syndrome [MESH:D016738] (105)  Fatty Liver [MESH:D005234] (3584)   Non-alcoholic Fatty Liver Disease [MESH:C541083] (1567)  Hepatic Insufficiency [MESH:D048550] (2771)   Liver Failure [MESH:D017093] (2768)   Hepatic Encephalopathy [MESH:D006501] (1795)  Liver Failure, Acute [MESH:D017114] (2404)   Massive Hepatic Necrosis [MESH:D047508] (93)  Hepatitis [MESH:D006505] (3883)   Hepatitis, Animal [MESH:D006520] (260)  Hepatitis, Viral, Human [MESH:D006525] (1766)   Hepatitis C [MESH:D006526] (1627)  Liver Cirrhosis [MESH:D008103] (5542)   Liver Cirrhosis, Alcoholic [MESH:D008104] (3066)  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)   Pancreatic Cyst [MESH:D010181] (18)   Renal hepatic pancreatic dysplasia Dandy Walker cyst [MESH:C537756] (11)  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)   Van der Woude syndrome [MESH:C536528] (33)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Micrognathism [MESH:D008844] (230)   Meier-Gorlin syndrome [MESH:C538012] (133)  Pierre Robin Syndrome [MESH:D010855] (101)   TARP syndrome [MESH:C536942] (18)  Mouth Diseases [MESH:D009059] (4783)   Mucositis [MESH:D052016] (1238)  Lip Diseases [MESH:D008047] (924)   Cleft Lip [MESH:D002971] (914)   Van der Woude syndrome [MESH:C536528] (33)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Mouth Abnormalities [MESH:D009056] (1383)   Cleft Lip [MESH:D002971] (914)   Van der Woude syndrome [MESH:C536528] (33)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Cleft Palate [MESH:D002972] (1330)   Van der Woude syndrome [MESH:C536528] (33)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  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)  Stomatognathic System Abnormalities [MESH:D018640] (1705)   Maxillofacial Abnormalities [MESH:D019767] (1447)   Jaw Abnormalities [MESH:D007569] (1438)   Cleft Palate [MESH:D002972] (1330)   Van der Woude syndrome [MESH:C536528] (33)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Micrognathism [MESH:D008844] (230)   Meier-Gorlin syndrome [MESH:C538012] (133)  Pierre Robin Syndrome [MESH:D010855] (101)   TARP syndrome [MESH:C536942] (18)  Mouth Abnormalities [MESH:D009056] (1383)   Cleft Lip [MESH:D002971] (914)   Van der Woude syndrome [MESH:C536528] (33)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Cleft Palate [MESH:D002972] (1330)   Van der Woude syndrome [MESH:C536528] (33)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Tooth Diseases [MESH:D014076] (742)   Toothache [MESH:D014098] (46) C08. Respiratory Tract Diseases  C08. Respiratory Tract Diseases  Respiratory Tract Diseases [MESH:D012140] (7881)   Ciliary Motility Disorders [MESH:D002925] (104)  Respiratory System Abnormalities [MESH:D015619] (243)  Thoracic Diseases [MESH:D013896] (81)  Bronchial Diseases [MESH:D001982] (4382)   Asthma [MESH:D001249] (4098)  Bronchitis [MESH:D001991] (993)   Bronchitis, Chronic [MESH:D029481] (569)  Lung Diseases [MESH:D008171] (7249)   Pneumonia [MESH:D011014] (3482)  Pulmonary Fibrosis [MESH:D011658] (3140)  Pulmonary Veno-Occlusive Disease [MESH:D011668] (55)  Respiratory Distress Syndrome, Adult [MESH:D012128] (864)  Hypertension, Pulmonary [MESH:D006976] (2000)   Pulmonary arterial hypertension [MESH:C536282] (94)  Lung Diseases, Obstructive [MESH:D008173] (4697)   Asthma [MESH:D001249] (3903)  Bronchitis [MESH:D001991] (993)   Bronchitis, Chronic [MESH:D029481] (569)  Pulmonary Disease, Chronic Obstructive [MESH:D029424] (3564)   Bronchitis, Chronic [MESH:D029481] (569)  Lung Injury [MESH:D055370] (3688)   Acute Lung Injury [MESH:D055371] (1907)  Lung Neoplasms [MESH:D008175] (6012)   Adenocarcinoma of lung [MESH:C538231] (1487)  Carcinoma, Bronchogenic [MESH:D002283] (3606)   Carcinoma, Non-Small-Cell Lung [MESH:D002289] (3540)  Small Cell Lung Carcinoma [MESH:D055752] (1380)  Pleural Diseases [MESH:D010995] (2240)   Pneumothorax [MESH:D011030] (42)   Pneumothorax, Primary Spontaneous [MESH:C566795] (35)  Respiration Disorders [MESH:D012120] (2218)   Respiratory Distress Syndrome, Adult [MESH:D012128] (864)  Apnea [MESH:D001049] (748)   Sleep Apnea Syndromes [MESH:D012891] (570)   Sleep Apnea, Central [MESH:D020182] (347)   Congenital central hypoventilation syndrome [MESH:C536209] (341)  Respiratory Insufficiency [MESH:D012131] (841)   Hypoventilation [MESH:D007040] (360)   Congenital central hypoventilation syndrome [MESH:C536209] (341)  Sarcoglycanopathies [MESH:D058088] (49)   Limb-girdle muscular dystrophy, type 2C [MESH:C535900] (20)  Respiratory Hypersensitivity [MESH:D012130] (4401)   Asthma [MESH:D001249] (4098)  Respiratory Tract Infections [MESH:D012141] (3926)   Influenza, Human [MESH:D007251] (1075)  Pneumonia [MESH:D011014] (3482)  Bronchitis [MESH:D001991] (588)   Bronchitis, Chronic [MESH:D029481] (569)  Respiratory Tract Neoplasms [MESH:D012142] (6053)   Lung Neoplasms [MESH:D008175] (6013)   Adenocarcinoma of lung [MESH:C538231] (1487)  Bronchial Neoplasms [MESH:D001984] (3608)   Carcinoma, Bronchogenic [MESH:D002283] (3606)   Carcinoma, Non-Small-Cell Lung [MESH:D002289] (3540)  Small Cell Lung Carcinoma [MESH:D055752] (1380) C09. Otorhinolaryngologic Diseases  C09. Otorhinolaryngologic Diseases  Otorhinolaryngologic Diseases [MESH:D010038] (3827)   Ciliary Motility Disorders [MESH:D002925] (104)  Ear Diseases [MESH:D004427] (2522)   Hearing Disorders [MESH:D006311] (2103)   Hearing Loss [MESH:D034381] (2068)   Deafness [MESH:D003638] (623)   Mental retardation-hypotonic facies syndrome, x-linked, 1 [MESH:C537457] (59)  Hearing Loss, Bilateral [MESH:D006312] (55)   Oculootoradial syndrome [MESH:C535544] (14)  Hearing Loss, Sensorineural [MESH:D006319] (1227)   Chudley-Mccullough syndrome [MESH:C535459] (45)  Griscelli syndrome type 1 [MESH:C537301] (42)  Deafness, Autosomal Recessive 37 [MESH:C564331] (35)  Hearing Loss, Central [MESH:D006313] (140)   Auditory Neuropathy, Autosomal Dominant, 1 [MESH:C563790] (92)  Retrocochlear Diseases [MESH:D012181] (241)   Auditory Diseases, Central [MESH:D001304] (210)   Hearing Loss, Central [MESH:D006313] (140)   Auditory Neuropathy, Autosomal Dominant, 1 [MESH:C563790] (92) C10. Nervous System Diseases  C10. Nervous System Diseases  Z. Exceptions (4027)   Not Fully Specified [NFS] (4027)  Nervous System Diseases [MESH:D009422] (13325)   Autoimmune Diseases of the Nervous System [MESH:D020274] (2238)   Aicardi-Goutieres Syndrome 4 [MESH:C563681] (39)  Demyelinating Autoimmune Diseases, CNS [MESH:D020278] (1732)   Multiple Sclerosis [MESH:D009103] (1716)  Nervous System Autoimmune Disease, Experimental [MESH:D020721] (810)   Encephalomyelitis, Autoimmune, Experimental [MESH:D004681] (806)  Polyradiculoneuropathy [MESH:D011129] (197)   Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172)  Central Nervous System Diseases [MESH:D002493] (9745)   Brain Diseases [MESH:D001927] (9294)   Brain Injuries [MESH:D001930] (3429)  Hypoxia, Brain [MESH:D002534] (134)  Auditory Diseases, Central [MESH:D001304] (210)   Hearing Loss, Central [MESH:D006313] (140)   Auditory Neuropathy, Autosomal Dominant, 1 [MESH:C563790] (92)  Basal Ganglia Diseases [MESH:D001480] (4268)   Huntington Disease [MESH:D006816] (540)  Multiple System Atrophy [MESH:D019578] (158)   Olivopontocerebellar Atrophies [MESH:D009849] (49)   Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31)  Parkinsonian Disorders [MESH:D020734] (4009)   Parkinson Disease [MESH:D010300] (3595)  Parkinson Disease, Secondary [MESH:D010302] (327)  Brain Diseases, Metabolic [MESH:D001928] (3351)   Hepatic Encephalopathy [MESH:D006501] (1795)  Mitochondrial Encephalomyopathies [MESH:D017237] (158)  Brain Diseases, Metabolic, Inborn [MESH:D020739] (2634)   Lesch-Nyhan Syndrome [MESH:D007926] (129)  Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497)   Pelizaeus-Merzbacher Disease [MESH:D020371] (103)  Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636)   Mucolipidoses [MESH:D009081] (78)   Microvillus inclusion disease [MESH:C537470] (28)  Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)   Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)  Brain Neoplasms [MESH:D001932] (2764)   Turcot syndrome [MESH:C536928] (159)  Cerebellar Diseases [MESH:D002526] (736)   Cerebellar Ataxia [MESH:D002524] (542)   Spinocerebellar Ataxias [MESH:D020754] (406)   Spinocerebellar Ataxia 15 [MESH:C564685] (90)  Dandy-Walker Syndrome [MESH:D003616] (50)   Renal hepatic pancreatic dysplasia Dandy Walker cyst [MESH:C537756] (11)  Spinocerebellar Degenerations [MESH:D013132] (449)   Spinocerebellar Ataxia 29 [MESH:C537206] (90)  Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy [MESH:C537313] (22)  Olivopontocerebellar Atrophies [MESH:D009849] (49)   Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31)  Spinocerebellar Ataxias [MESH:D020754] (322)   Spinocerebellar Ataxia 15 [MESH:C564685] (90)  Cerebrovascular Disorders [MESH:D002561] (5542)   Brain Ischemia [MESH:D002545] (4873)   Brain Infarction [MESH:D020520] (2571)   Cerebral Infarction [MESH:D002544] (2458)   Infarction, Middle Cerebral Artery [MESH:D020244] (2268)  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)   Alzheimer Disease [MESH:D000544] (4275)  Huntington Disease [MESH:D006816] (540)  Epilepsy [MESH:D004827] (6274)   Status Epilepticus [MESH:D013226] (4014)  Epilepsies, Partial [MESH:D004828] (1267)   Epilepsy, Temporal Lobe [MESH:D004833] (1108)  Epilepsy, Generalized [MESH:D004829] (1431)   Spasms, Infantile [MESH:D013036] (468)   Epileptic Encephalopathy, Early Infantile, 1 [MESH:C567924] (20)  Seizures [MESH:D012640] (4502)   Partington X-linked mental retardation syndrome [MESH:C536300] (12)  Hydrocephalus [MESH:D006849] (276)   Hydrocephalus, X-linked [MESH:C536078] (37)  Hydrolethalus Syndrome 1 [MESH:C565504] (14)  Dandy-Walker Syndrome [MESH:D003616] (50)   Renal hepatic pancreatic dysplasia Dandy Walker cyst [MESH:C537756] (11)  Hypothalamic Diseases [MESH:D007027] (1833)   Pituitary Diseases [MESH:D010900] (1808)   Hyperpituitarism [MESH:D006964] (1250)   Acromegaly [MESH:D000172] (466)  Hypopituitarism [MESH:D007018] (732)   Panhypopituitarism X-linked [MESH:C538613] (18)  Mental Retardation, X-Linked, With Panhypopituitarism [MESH:C567485] (18)  Pituitary Neoplasms [MESH:D010911] (981)   ACTH-Secreting Pituitary Adenoma [MESH:D049913] (172)  Growth Hormone-Secreting Pituitary Adenoma [MESH:D049912] (383)  Intracranial Hypertension [MESH:D019586] (368)   Hydrocephalus [MESH:D006849] (274)   Hydrocephalus, X-linked [MESH:C536078] (37)  Hydrolethalus Syndrome 1 [MESH:C565504] (14)  Dandy-Walker Syndrome [MESH:D003616] (50)   Renal hepatic pancreatic dysplasia Dandy Walker cyst [MESH:C537756] (11)  Leukoencephalopathies [MESH:D056784] (1916)   Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation [MESH:C567009] (13)  Demyelinating Autoimmune Diseases, CNS [MESH:D020278] (822)   Encephalomyelitis, Autoimmune, Experimental [MESH:D004681] (806)  Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497)   Pelizaeus-Merzbacher Disease [MESH:D020371] (103)  Movement Disorders [MESH:D009069] (4823)   Dyskinesias [MESH:D020820] (1827)   Chorea [MESH:D002819] (651)   Huntington Disease [MESH:D006816] (540)  Multiple System Atrophy [MESH:D019578] (158)   Olivopontocerebellar Atrophies [MESH:D009849] (49)   Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31)  Parkinsonian Disorders [MESH:D020734] (4009)   Parkinson Disease [MESH:D010300] (3595)  Parkinson Disease, Secondary [MESH:D010302] (327)  Spinal Cord Diseases [MESH:D013118] (4376)   Amyotrophic Lateral Sclerosis [MESH:D000690] (3296)   Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559)  Spinocerebellar Degenerations [MESH:D013132] (449)   Spinocerebellar Ataxia 29 [MESH:C537206] (90)  Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy [MESH:C537313] (22)  Olivopontocerebellar Atrophies [MESH:D009849] (49)   Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31)  Spinocerebellar Ataxias [MESH:D020754] (322)   Spinocerebellar Ataxia 15 [MESH:C564685] (90)  Cranial Nerve Diseases [MESH:D003389] (2004)   Ocular Motility Disorders [MESH:D015835] (1697)   Duane Retraction Syndrome [MESH:D004370] (43)  Ophthalmoplegia [MESH:D009886] (1468)   Oculootoradial syndrome [MESH:C535544] (14)  Optic Nerve Diseases [MESH:D009901] (1375)   Optic Atrophy [MESH:D009896] (1203)  Demyelinating Diseases [MESH:D003711] (2917)   Demyelinating Autoimmune Diseases, CNS [MESH:D020278] (2035)   Encephalomyelitis, Autoimmune, Experimental [MESH:D004681] (806)  Multiple Sclerosis [MESH:D009103] (1716)  Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497)   Pelizaeus-Merzbacher Disease [MESH:D020371] (103)  Polyradiculoneuropathy [MESH:D011129] (197)   Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172)  Nervous System Malformations [MESH:D009421] (3354)   Aicardi-Goutieres Syndrome 4 [MESH:C563681] (39)  Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172)  Agenesis of Corpus Callosum [MESH:D061085] (345)   Chudley-Mccullough syndrome [MESH:C535459] (45)  Proud Syndrome [MESH:C563110] (12)  Corpus Callosum, Partial Agenesis of, X-Linked [MESH:C564115] (37)  Holoprosencephaly [MESH:D016142] (218)   Holoprosencephaly 4 [MESH:C564180] (70)  Central Nervous System Cysts [MESH:D020863] (57)   Arachnoid Cysts [MESH:D016080] (50)   Chudley-Mccullough syndrome [MESH:C535459] (45)  Dandy-Walker Syndrome [MESH:D003616] (50)   Renal hepatic pancreatic dysplasia Dandy Walker cyst [MESH:C537756] (11)  Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899)   Spastic Paraplegia, Hereditary [MESH:D015419] (449)   MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome [MESH:C536029] (37)  Malformations of Cortical Development [MESH:D054220] (1406)   Lissencephaly [MESH:D054082] (218)   Classical Lissencephalies and Subcortical Band Heterotopias [MESH:D054221] (114)   Lissencephaly, X-Linked, 2 [MESH:C564563] (12)  Microcephaly [MESH:D008831] (700)   Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Seckel syndrome 1 [MESH:C537533] (63)  Seckel syndrome 2 [MESH:C537534] (7)  Microcephalic Osteodysplastic Primordial Dwarfism, Type II [MESH:C565898] (7)  Neuronal Migration Disorders [MESH:D054081] (264)   Classical Lissencephalies and Subcortical Band Heterotopias [MESH:D054221] (114)   Lissencephaly, X-Linked, 2 [MESH:C564563] (12)  Neural Tube Defects [MESH:D009436] (2143)   Anencephaly [MESH:D000757] (120)   Neural tube defect, folate-sensitive [MESH:C536409] (111)  Nervous System Neoplasms [MESH:D009423] (3073)   Central Nervous System Neoplasms [MESH:D016543] (3055)   Brain Neoplasms [MESH:D001932] (2764)   Turcot syndrome [MESH:C536928] (159)  Central Nervous System Cysts [MESH:D020863] (57)   Arachnoid Cysts [MESH:D016080] (50)   Chudley-Mccullough syndrome [MESH:C535459] (45)  Meningeal Neoplasms [MESH:D008577] (984)   Meningioma [MESH:D008579] (978)  Neurodegenerative Diseases [MESH:D019636] (6613)   Parkinson Disease [MESH:D010300] (3595)  Heredodegenerative Disorders, Nervous System [MESH:D020271] (3243)   Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172)  Huntington Disease [MESH:D006816] (540)  Lesch-Nyhan Syndrome [MESH:D007926] (129)  Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899)   Spastic Paraplegia, Hereditary [MESH:D015419] (449)   MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome [MESH:C536029] (37)  Neuronal Ceroid-Lipofuscinoses [MESH:D009472] (1026)   Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)  Ceroid Lipofuscinosis, Neuronal, 6 [MESH:C566627] (20)  Spinocerebellar Degenerations [MESH:D013132] (449)   Spinocerebellar Ataxia 29 [MESH:C537206] (90)  Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy [MESH:C537313] (22)  Olivopontocerebellar Atrophies [MESH:D009849] (49)   Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31)  Spinocerebellar Ataxias [MESH:D020754] (322)   Spinocerebellar Ataxia 15 [MESH:C564685] (90)  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)  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)  Tauopathies [MESH:D024801] (4289)   Alzheimer Disease [MESH:D000544] (4275)  TDP-43 Proteinopathies [MESH:D057177] (3337)   Amyotrophic Lateral Sclerosis [MESH:D000690] (3296)   Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559)  Neurologic Manifestations [MESH:D009461] (8964)   Gait Disorders, Neurologic [MESH:D020233] (491)  Neurogenic Inflammation [MESH:D020078] (2246)  Dyskinesias [MESH:D020820] (3365)   Hyperkinesis [MESH:D006948] (1799)  Ataxia [MESH:D001259] (1138)   Partington X-linked mental retardation syndrome [MESH:C536300] (12)  Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract [MESH:C567203] (27)  Cerebellar Ataxia [MESH:D002524] (542)   Spinocerebellar Ataxias [MESH:D020754] (406)   Spinocerebellar Ataxia 15 [MESH:C564685] (90)  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)   Speech Disorders [MESH:D013064] (482)   Aphasia [MESH:D001037] (219)  Intellectual Disability [MESH:D008607] (3054)   MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome [MESH:C536029] (37)  Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Proud Syndrome [MESH:C563110] (12)  Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)  Mental Retardation, X-Linked, With Panhypopituitarism [MESH:C567485] (18)  Williams Syndrome [MESH:D018980] (133)  Mental Retardation, X-Linked [MESH:D038901] (1854)   Partington X-linked mental retardation syndrome [MESH:C536300] (12)  Mental retardation-hypotonic facies syndrome, x-linked, 1 [MESH:C537457] (59)  ATR-X syndrome [MESH:C538258] (59)  Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related [MESH:C563150] (12)  Mental Retardation, X-Linked, Syndromic 14 [MESH:C567063] (30)  Lesch-Nyhan Syndrome [MESH:D007926] (129)  Mucopolysaccharidosis II [MESH:D016532] (26)  Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)   Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)  Psychomotor Disorders [MESH:D011596] (576)   Apraxias [MESH:D001072] (118)  Neuromuscular Manifestations [MESH:D020879] (2130)   Muscular Atrophy [MESH:D009133] (1234)  Pain [MESH:D010146] (3875)   Neuralgia [MESH:D009437] (2074)  Paralysis [MESH:D010243] (2043)   Ophthalmoplegia [MESH:D009886] (1468)   Oculootoradial syndrome [MESH:C535544] (14)  Seizures [MESH:D012640] (4514)   Partington X-linked mental retardation syndrome [MESH:C536300] (12)  Alcohol Withdrawal Seizures [MESH:D020270] (64)  Sensation Disorders [MESH:D012678] (5011)   Hearing Disorders [MESH:D006311] (2103)   Hearing Loss [MESH:D034381] (2068)   Deafness [MESH:D003638] (623)   Mental retardation-hypotonic facies syndrome, x-linked, 1 [MESH:C537457] (59)  Hearing Loss, Bilateral [MESH:D006312] (55)   Oculootoradial syndrome [MESH:C535544] (14)  Hearing Loss, Sensorineural [MESH:D006319] (1227)   Chudley-Mccullough syndrome [MESH:C535459] (45)  Griscelli syndrome type 1 [MESH:C537301] (42)  Deafness, Autosomal Recessive 37 [MESH:C564331] (35)  Hearing Loss, Central [MESH:D006313] (140)   Auditory Neuropathy, Autosomal Dominant, 1 [MESH:C563790] (92)  Somatosensory Disorders [MESH:D020886] (4000)   Hyperalgesia [MESH:D006930] (3929)  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 Diseases [MESH:D009135] (3538)   Muscular Disorders, Atrophic [MESH:D020966] (1594)   Muscular Dystrophies [MESH:D009136] (1589)   Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854)  Muscular Dystrophies, Limb-Girdle [MESH:D049288] (259)   Sarcoglycanopathies [MESH:D058088] (49)   Limb-girdle muscular dystrophy, type 2C [MESH:C535900] (20)  Mitochondrial Myopathies [MESH:D017240] (2176)   Mitochondrial Encephalomyopathies [MESH:D017237] (1121)  Peripheral Nervous System Diseases [MESH:D010523] (6151)   Neuralgia [MESH:D009437] (2078)  Polyneuropathies [MESH:D011115] (1134)   Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract [MESH:C567203] (27)  Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172)  Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899)   Spastic Paraplegia, Hereditary [MESH:D015419] (449)   MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome [MESH:C536029] (37)  Polyradiculoneuropathy [MESH:D011129] (213)   Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172)  Neurotoxicity Syndromes [MESH:D020258] (4570)   Alcohol-Induced Disorders, Nervous System [MESH:D020268] (128)   Alcohol Withdrawal Seizures [MESH:D020270] (64)  Heavy Metal Poisoning, Nervous System [MESH:D020260] (2912)   Arsenic Poisoning [MESH:D020261] (2540)  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)   Craniocerebral Trauma [MESH:D006259] (3507)   Brain Injuries [MESH:D001930] (3431) C11. Eye Diseases  C11. Eye Diseases  Eye Diseases [MESH:D005128] (6245)   Corneal Diseases [MESH:D003316] (1445)   Corneal Neovascularization [MESH:D016510] (622)  Corneal Opacity [MESH:D003318] (544)  Corneal Dystrophies, Hereditary [MESH:D003317] (341)   Corneal dystrophy, gelatinous drop-like [MESH:C535480] (37)  Doyne honeycomb retinal dystrophy [MESH:C535602] (44)  Eye Abnormalities [MESH:D005124] (1233)   Popliteal Pterygium Syndrome [MESH:C562509] (33)  Eye Diseases, Hereditary [MESH:D015785] (1869)   Duane Retraction Syndrome [MESH:D004370] (43)  Corneal Dystrophies, Hereditary [MESH:D003317] (341)   Corneal dystrophy, gelatinous drop-like [MESH:C535480] (37)  Doyne honeycomb retinal dystrophy [MESH:C535602] (44)  Leber Congenital Amaurosis [MESH:D057130] (157)   Leber Congenital Amaurosis 3 [MESH:C565814] (38)  Retinitis Pigmentosa [MESH:D012174] (414)   Leber Congenital Amaurosis 3 [MESH:C565814] (38)  Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract [MESH:C567203] (27)  Lens Diseases [MESH:D007905] (900)   Cataract [MESH:D002386] (860)   Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract [MESH:C567203] (27)  Ocular Hypertension [MESH:D009798] (1630)   Glaucoma [MESH:D005901] (1458)   Glaucoma, Open-Angle [MESH:D005902] (1281)   Glaucoma, Primary Open Angle [MESH:C562750] (466)  Ocular Motility Disorders [MESH:D015835] (1699)   Duane Retraction Syndrome [MESH:D004370] (43)  Ophthalmoplegia [MESH:D009886] (1468)   Oculootoradial syndrome [MESH:C535544] (14)  Optic Nerve Diseases [MESH:D009901] (1377)   Optic Atrophy [MESH:D009896] (1203)  Retinal Diseases [MESH:D012164] (3747)   Diabetic Retinopathy [MESH:D003930] (1371)  Retinal Vein Occlusion [MESH:D012170] (607)  Leber Congenital Amaurosis [MESH:D057130] (157)   Leber Congenital Amaurosis 3 [MESH:C565814] (38)  Retinal Degeneration [MESH:D012162] (2386)   Macular Degeneration [MESH:D008268] (995)   Macular Edema [MESH:D008269] (557)  Retinal Dystrophies [MESH:D058499] (1315)   Retinitis Pigmentosa [MESH:D012174] (1307)   Leber Congenital Amaurosis 3 [MESH:C565814] (38)  Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract [MESH:C567203] (27)  Uveal Diseases [MESH:D014603] (2428)   Choroid Diseases [MESH:D015862] (595)   Choroidal Neovascularization [MESH:D020256] (550) 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, familial [MESH:C537243] (264)  Infertility [MESH:D007246] (2909)   Infertility, Male [MESH:D007248] (2851)   Aromatase deficiency [MESH:C537436] (277)  Azoospermia [MESH:D053713] (1052)  Oligospermia [MESH:D009845] (799)  Penile Diseases [MESH:D010409] (1805)   Hypospadias [MESH:D007021] (798)  Prostatic Diseases [MESH:D011469] (6204)   Prostatic Neoplasms [MESH:D011471] (6135)   Prostate cancer, familial [MESH:C537243] (264)  Sexual Dysfunction, Physiological [MESH:D012735] (1808)   Erectile Dysfunction [MESH:D007172] (1791)  Testicular Diseases [MESH:D013733] (451)   Cryptorchidism [MESH:D003456] (215)  Urogenital Abnormalities [MESH:D014564] (2065)   Popliteal Pterygium Syndrome [MESH:C562509] (33)  Proud Syndrome [MESH:C563110] (12)  Lissencephaly, X-Linked, 2 [MESH:C564563] (12)  Cryptorchidism [MESH:D003456] (215)  Hypospadias [MESH:D007021] (798)  Disorders of Sex Development [MESH:D012734] (1637)   46, XX Disorders of Sex Development [MESH:D058489] (644)   Aromatase deficiency [MESH:C537436] (277)  Hyperandrogenism [MESH:D017588] (98)  Adrenogenital Syndrome [MESH:D047808] (715)   Hyperandrogenism [MESH:D017588] (98)  Gonadal Dysgenesis [MESH:D006059] (492)   Sexual Infantilism [MESH:D050035] (277)  Nephritis, Hereditary [MESH:D009394] (62)   Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)  Urogenital Neoplasms [MESH:D014565] (6932)   Genital Neoplasms, Male [MESH:D005834] (6224)   Prostatic Neoplasms [MESH:D011471] (6135)   Prostate cancer, familial [MESH:C537243] (264)  Urologic Neoplasms [MESH:D014571] (5315)   Urinary Bladder Neoplasms [MESH:D001749] (4079)  Kidney Neoplasms [MESH:D007680] (3966)   Oncocytoma, renal [MESH:C537750] (35)  Carcinoma, Renal Cell [MESH:D002292] (2975)  Wilms Tumor [MESH:D009396] (553)  Urologic Diseases [MESH:D014570] (7792)   Kidney Diseases [MESH:D007674] (7242)   Hereditary renal agenesis [MESH:C536482] (89)  Diabetic Nephropathies [MESH:D003928] (2301)  Hydronephrosis [MESH:D006869] (956)  Kidney Diseases, Cystic [MESH:D052177] (1009)   Nephronophthisis 3 [MESH:C565780] (11)  Polycystic Kidney Diseases [MESH:D007690] (853)   Polycystic Kidney, Autosomal Recessive [MESH:D017044] (462)  Kidney Neoplasms [MESH:D007680] (3966)   Oncocytoma, renal [MESH:C537750] (35)  Carcinoma, Renal Cell [MESH:D002292] (2975)  Wilms Tumor [MESH:D009396] (553)  Nephritis [MESH:D009393] (4236)   Glomerulonephritis [MESH:D005921] (3758)   Glomerulosclerosis, Focal Segmental [MESH:D005923] (1754)  Nephritis, Hereditary [MESH:D009394] (62)   Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)  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)   Pseudohypoaldosteronism [MESH:D011546] (232)  Hypophosphatemia, Familial [MESH:D007015] (276)   Familial Hypophosphatemic Rickets [MESH:D053098] (274)   Vitamin D Hydroxylation-Deficient Rickets, Type 1B [MESH:C564005] (25)  Uremia [MESH:D014511] (2898)   Hemolytic-Uremic Syndrome [MESH:D006463] (2435)  Ureteral Diseases [MESH:D014515] (1024)   Ureteral Obstruction [MESH:D014517] (575)  Urinary Bladder Diseases [MESH:D001745] (4374)   Urinary Bladder Neoplasms [MESH:D001749] (4079)  Urination Disorders [MESH:D014555] (3598)   Polyuria [MESH:D011141] (279)  Proteinuria [MESH:D011507] (3293)   Albuminuria [MESH:D000419] (2394)  Hemoglobinuria [MESH:D006456] (75)   CD59 Deficiency [MESH:C567355] (57) C13. Female Urogenital Diseases and Pregnancy Complications  C13. Female Urogenital Diseases and Pregnancy Complications  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)   Endometrial Hyperplasia [MESH:D004714] (263)  Uterine Cervical Diseases [MESH:D002577] (988)   Uterine Cervical Neoplasms [MESH:D002583] (978)  Uterine Neoplasms [MESH:D014594] (2430)   Endometrial Neoplasms [MESH:D016889] (1984)  Uterine Cervical Neoplasms [MESH:D002583] (978)  Urogenital Abnormalities [MESH:D014564] (2043)   Popliteal Pterygium Syndrome [MESH:C562509] (33)  Proud Syndrome [MESH:C563110] (12)  Lissencephaly, X-Linked, 2 [MESH:C564563] (12)  Hypospadias [MESH:D007021] (798)  Disorders of Sex Development [MESH:D012734] (1637)   46, XX Disorders of Sex Development [MESH:D058489] (644)   Aromatase deficiency [MESH:C537436] (277)  Hyperandrogenism [MESH:D017588] (98)  Adrenogenital Syndrome [MESH:D047808] (715)   Hyperandrogenism [MESH:D017588] (98)  Gonadal Dysgenesis [MESH:D006059] (492)   Sexual Infantilism [MESH:D050035] (277)  Nephritis, Hereditary [MESH:D009394] (62)   Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)  Urogenital Neoplasms [MESH:D014565] (5792)   Genital Neoplasms, Female [MESH:D005833] (3810)   Ovarian Neoplasms [MESH:D010051] (3281)   Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)  Uterine Neoplasms [MESH:D014594] (2433)   Endometrial Neoplasms [MESH:D016889] (1989)  Uterine Cervical Neoplasms [MESH:D002583] (978)  Urologic Neoplasms [MESH:D014571] (5315)   Urinary Bladder Neoplasms [MESH:D001749] (4079)  Kidney Neoplasms [MESH:D007680] (3966)   Oncocytoma, renal [MESH:C537750] (35)  Carcinoma, Renal Cell [MESH:D002292] (2975)  Wilms Tumor [MESH:D009396] (553)  Urologic Diseases [MESH:D014570] (7793)   Kidney Diseases [MESH:D007674] (7242)   Hereditary renal agenesis [MESH:C536482] (89)  Diabetic Nephropathies [MESH:D003928] (2301)  Hydronephrosis [MESH:D006869] (956)  Kidney Diseases, Cystic [MESH:D052177] (1009)   Nephronophthisis 3 [MESH:C565780] (11)  Polycystic Kidney Diseases [MESH:D007690] (853)   Polycystic Kidney, Autosomal Recessive [MESH:D017044] (462)  Kidney Neoplasms [MESH:D007680] (3966)   Oncocytoma, renal [MESH:C537750] (35)  Carcinoma, Renal Cell [MESH:D002292] (2975)  Wilms Tumor [MESH:D009396] (553)  Nephritis [MESH:D009393] (4236)   Glomerulonephritis [MESH:D005921] (3758)   Glomerulosclerosis, Focal Segmental [MESH:D005923] (1754)  Nephritis, Hereditary [MESH:D009394] (62)   Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)  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)   Pseudohypoaldosteronism [MESH:D011546] (232)  Hypophosphatemia, Familial [MESH:D007015] (276)   Familial Hypophosphatemic Rickets [MESH:D053098] (274)   Vitamin D Hydroxylation-Deficient Rickets, Type 1B [MESH:C564005] (25)  Uremia [MESH:D014511] (2898)   Hemolytic-Uremic Syndrome [MESH:D006463] (2435)  Ureteral Diseases [MESH:D014515] (1024)   Ureteral Obstruction [MESH:D014517] (575)  Urinary Bladder Diseases [MESH:D001745] (4375)   Urinary Bladder Neoplasms [MESH:D001749] (4079)  Urination Disorders [MESH:D014555] (3598)   Polyuria [MESH:D011141] (279)  Proteinuria [MESH:D011507] (3293)   Albuminuria [MESH:D000419] (2394)  Hemoglobinuria [MESH:D006456] (75)   CD59 Deficiency [MESH:C567355] (57)  Pregnancy Complications [MESH:D011248] (4768)   Abortion, Spontaneous [MESH:D000022] (2780)  Diabetes, Gestational [MESH:D016640] (1157)  Fetal Death [MESH:D005313] (464)  Prenatal Injuries [MESH:D049188] (1314)  Fetal Diseases [MESH:D005315] (1206)   Fetal Growth Retardation [MESH:D005317] (986)   Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Microcephalic Osteodysplastic Primordial Dwarfism, Type II [MESH:C565898] (7)  Obstetric Labor Complications [MESH:D007744] (1550)   Abruptio Placentae [MESH:D000037] (430)  Placenta Diseases [MESH:D010922] (1781)   Abruptio Placentae [MESH:D000037] (430) 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)   TARP syndrome [MESH:C536942] (18)  Alagille Syndrome [MESH:D016738] (105)  Tetralogy of Fallot [MESH:D013771] (121)  Heart Septal Defects [MESH:D006343] (385)   Heart Septal Defects, Atrial [MESH:D006344] (209)   Rapadilino syndrome [MESH:C535288] (30)  Heart Diseases [MESH:D006331] (8614)   Arrhythmias, Cardiac [MESH:D001145] (4679)   Tachycardia [MESH:D013610] (3339)  Cardiomegaly [MESH:D006332] (4081)   Hypertrophy, Left Ventricular [MESH:D017379] (1430)  Cardiomyopathy, Dilated [MESH:D002311] (1576)   Cardiomyopathy, Dilated, 1t [MESH:C566052] (76)  Cardiomyopathy, Dilated, 1y [MESH:C567507] (103)  Cardiomyopathies [MESH:D009202] (5331)   Myocardial Reperfusion Injury [MESH:D015428] (3500)  Cardiomyopathy, Dilated [MESH:D002311] (1576)   Cardiomyopathy, Dilated, 1t [MESH:C566052] (76)  Cardiomyopathy, Dilated, 1y [MESH:C567507] (103)  Cardiomyopathy, Hypertrophic [MESH:D002312] (1516)   Cardiomyopathy, Hypertrophic, Familial [MESH:D024741] (339)   Cardiomyopathy, Familial Hypertrophic, 3 [MESH:C566170] (103)  Sarcoglycanopathies [MESH:D058088] (49)   Limb-girdle muscular dystrophy, type 2C [MESH:C535900] (20)  Heart Defects, Congenital [MESH:D006330] (2443)   TARP syndrome [MESH:C536942] (18)  Tetralogy of Fallot [MESH:D013771] (121)  Heart Septal Defects [MESH:D006343] (385)   Heart Septal Defects, Atrial [MESH:D006344] (209)   Rapadilino syndrome [MESH:C535288] (30)  Heart Failure [MESH:D006333] (4058)   Edema, Cardiac [MESH:D004489] (27)  Heart Valve Diseases [MESH:D006349] (3333)   Aortic Valve Insufficiency [MESH:D001022] (1002)  Aortic Valve Stenosis [MESH:D001024] (1742)   Aortic Stenosis, Supravalvular [MESH:D021921] (135)   Williams Syndrome [MESH:D018980] (133)  Pulmonary Valve Stenosis [MESH:D011666] (360)   Keutel syndrome [MESH:C536167] (102)  Myocardial Ischemia [MESH:D017202] (5787)   Acute Coronary Syndrome [MESH:D054058] (2286)  Myocardial Reperfusion Injury [MESH:D015428] (3500)  Angina Pectoris [MESH:D000787] (2575)   Acute Coronary Syndrome [MESH:D054058] (2286)  Coronary Disease [MESH:D003327] (3439)   Coronary Artery Disease [MESH:D003324] (2685)   Coronary Artery Disease, Autosomal Dominant, 1 [MESH:C564258] (46)  Myocardial Infarction [MESH:D009203] (4122)   Coronary Artery Disease, Autosomal Dominant, 1 [MESH:C564258] (46)  Ventricular Outflow Obstruction [MESH:D014694] (976)   Pulmonary Valve Stenosis [MESH:D011666] (109)   Keutel syndrome [MESH:C536167] (102)  Vascular Diseases [MESH:D014652] (8691)   Calcification of Joints and Arteries [MESH:C565891] (60)  Pulmonary Veno-Occlusive Disease [MESH:D011668] (55)  Retinal Vein Occlusion [MESH:D012170] (607)  Varicose Veins [MESH:D014648] (383)  Aneurysm [MESH:D000783] (1886)   Aneurysm, Dissecting [MESH:D000784] (699)   Loeys-Dietz Syndrome [MESH:D055947] (263)   Loeys-Dietz Syndrome, Type 2A [MESH:C567156] (78)  Aneurysm, Ruptured [MESH:D017542] (645)   Aortic Rupture [MESH:D001019] (637)  Aortic Aneurysm [MESH:D001014] (1721)   Aortic Rupture [MESH:D001019] (637)  Aortic Aneurysm, Thoracic [MESH:D017545] (781)   Loeys-Dietz Syndrome, Type 2A [MESH:C567156] (78)  Loeys-Dietz Syndrome [MESH:D055947] (263)   Loeys-Dietz Syndrome, Type 2A [MESH:C567156] (78)  Aortic Diseases [MESH:D001018] (1737)   Aortic Aneurysm [MESH:D001014] (1721)   Aortic Rupture [MESH:D001019] (637)  Aortic Aneurysm, Thoracic [MESH:D017545] (781)   Loeys-Dietz Syndrome, Type 2A [MESH:C567156] (78)  Loeys-Dietz Syndrome [MESH:D055947] (263)   Loeys-Dietz Syndrome, Type 2A [MESH:C567156] (78)  Arterial Occlusive Diseases [MESH:D001157] (4520)   Arteriosclerosis [MESH:D001161] (4466)   Atherosclerosis [MESH:D050197] (4188)  Coronary Artery Disease [MESH:D003324] (2685)   Coronary Artery Disease, Autosomal Dominant, 1 [MESH:C564258] (46)  Cerebrovascular Disorders [MESH:D002561] (5541)   Brain Ischemia [MESH:D002545] (4873)   Brain Infarction [MESH:D020520] (2571)   Cerebral Infarction [MESH:D002544] (2458)   Infarction, Middle Cerebral Artery [MESH:D020244] (2268)  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)  Diabetic Angiopathies [MESH:D003925] (1984)   Diabetic Retinopathy [MESH:D003930] (1371)  Embolism and Thrombosis [MESH:D016769] (3374)   Thrombosis [MESH:D013927] (3101)   Venous Thrombosis [MESH:D020246] (1141)   Retinal Vein Occlusion [MESH:D012170] (607)  Hemostatic Disorders [MESH:D020141] (2894)   Multiple Myeloma [MESH:D009101] (2765)  Ehlers-Danlos Syndrome [MESH:D004535] (491)   Ehlers-Danlos syndrome type 1 [MESH:C536194] (344)  Ehlers-Danlos syndrome type 2 [MESH:C536195] (55)  Hypertension [MESH:D006973] (5655)   Hypertension, Essential [MESH:C562386] (1308)  Myocardial Ischemia [MESH:D017202] (5791)   Acute Coronary Syndrome [MESH:D054058] (2286)  Myocardial Reperfusion Injury [MESH:D015428] (3500)  Angina Pectoris [MESH:D000787] (2575)   Acute Coronary Syndrome [MESH:D054058] (2286)  Coronary Disease [MESH:D003327] (3439)   Coronary Artery Disease [MESH:D003324] (2685)   Coronary Artery Disease, Autosomal Dominant, 1 [MESH:C564258] (46)  Myocardial Infarction [MESH:D009203] (4151)   Coronary Artery Disease, Autosomal Dominant, 1 [MESH:C564258] (46)  Reperfusion Injury [MESH:D015427] (4968)   Myocardial Reperfusion Injury [MESH:D015428] (3500) C15. Hemic and Lymphatic Diseases  C15. Hemic and Lymphatic Diseases  Hematologic Diseases [MESH:D006402] (6174)   Pancytopenia [MESH:D010198] (332)  Anemia [MESH:D000740] (3966)   Anemia, Sideroblastic [MESH:D000756] (636)  Anemia, Aplastic [MESH:D000741] (1925)   Anemia, Hypoplastic, Congenital [MESH:D029502] (1665)   Fanconi Anemia [MESH:D005199] (1604)   Fanconi Anemia, Complementation Group I [MESH:C563802] (34)  Fanconi Anemia, Complementation Group D1 [MESH:C563980] (68)  Anemia, Hemolytic [MESH:D000743] (3083)   CD59 Deficiency [MESH:C567355] (57)  Hemolytic-Uremic Syndrome [MESH:D006463] (2435)  Anemia, Hemolytic, Congenital [MESH:D000745] (2001)   Anemia, Hemolytic, Congenital Nonspherocytic [MESH:D000746] (308)  Elliptocytosis, Hereditary [MESH:D004612] (95)   Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)  Thalassemia [MESH:D013789] (501)   alpha-Thalassemia [MESH:D017085] (176)   ATR-X syndrome [MESH:C538258] (59)  Alpha-Thalassemia Myelodysplasia Syndrome [MESH:C563023] (59)  Anemia, Macrocytic [MESH:D000748] (382)   Anemia, Megaloblastic [MESH:D000749] (288)  Blood Coagulation Disorders [MESH:D001778] (1828)   Scott Syndrome [MESH:C563120] (17)  Blood Coagulation Disorders, Inherited [MESH:D025861] (720)   Activated Protein C Resistance [MESH:D020016] (140)  Coagulation Protein Disorders [MESH:D020147] (580)   Activated Protein C Resistance [MESH:D020016] (140)  Purpura [MESH:D011693] (475)   Purpura, Thrombocytopenic [MESH:D011696] (237)   Purpura, Thrombotic Thrombocytopenic [MESH:D011697] (222)  Blood Platelet Disorders [MESH:D001791] (3174)   Thrombocytopenia [MESH:D013921] (2966)   Oculootoradial syndrome [MESH:C535544] (14)  Thrombotic Microangiopathies [MESH:D057049] (2598)   Hemolytic-Uremic Syndrome [MESH:D006463] (2435)  Purpura, Thrombocytopenic [MESH:D011696] (237)   Purpura, Thrombotic Thrombocytopenic [MESH:D011697] (222)  Blood Protein Disorders [MESH:D001796] (3051)   Paraproteinemias [MESH:D010265] (2781)   Multiple Myeloma [MESH:D009101] (2765)  Bone Marrow Diseases [MESH:D001855] (2944)   Myelodysplastic-Myeloproliferative Diseases [MESH:D054437] (376)  Anemia, Aplastic [MESH:D000741] (1925)   Anemia, Hypoplastic, Congenital [MESH:D029502] (1665)   Fanconi Anemia [MESH:D005199] (1604)   Fanconi Anemia, Complementation Group I [MESH:C563802] (34)  Fanconi Anemia, Complementation Group D1 [MESH:C563980] (68)  Myelodysplastic Syndromes [MESH:D009190] (2093)   Alpha-Thalassemia Myelodysplasia Syndrome [MESH:C563023] (59)  Anemia, Sideroblastic [MESH:D000756] (636)  Myeloproliferative Disorders [MESH:D009196] (1492)   Leukemia, Myelogenous, Chronic, BCR-ABL Positive [MESH:D015464] (1032)  Primary Myelofibrosis [MESH:D055728] (165)  Hemoglobinopathies [MESH:D006453] (1863)   Thalassemia [MESH:D013789] (511)   alpha-Thalassemia [MESH:D017085] (192)   ATR-X syndrome [MESH:C538258] (59)  Alpha-Thalassemia Myelodysplasia Syndrome [MESH:C563023] (59)  Hemorrhagic Disorders [MESH:D006474] (3359)   Hemostatic Disorders [MESH:D020141] (2932)   Multiple Myeloma [MESH:D009101] (2765)  Ehlers-Danlos Syndrome [MESH:D004535] (491)   Ehlers-Danlos syndrome type 1 [MESH:C536194] (344)  Ehlers-Danlos syndrome type 2 [MESH:C536195] (55)  Leukocyte Disorders [MESH:D007960] (2662)   Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78)  Leukopenia [MESH:D007970] (1921)   Agranulocytosis [MESH:D000380] (1675)  Thrombophilia [MESH:D019851] (592)   Activated Protein C Resistance [MESH:D020016] (140)  Purpura, Thrombotic Thrombocytopenic [MESH:D011697] (222)  Lymphatic Diseases [MESH:D008206] (5167)   Lymphedema [MESH:D008209] (162)  Lymphoproliferative Disorders [MESH:D008232] (4638)   Leukemia, Lymphoid [MESH:D007945] (3047)   Leukemia, B-Cell [MESH:D015448] (2564)   Leukemia, Lymphocytic, Chronic, B-Cell [MESH:D015451] (2562)  Precursor Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054198] (1754)   Precursor T-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054218] (510)  Lymphangiomyoma [MESH:D008203] (163)   Lymphangioleiomyomatosis [MESH:D018192] (162)  Lymphoma [MESH:D008223] (3684)   Lymphoma, Non-Hodgkin [MESH:D008228] (3330)   Burkitt Lymphoma [MESH:D002051] (691)  Lymphoma, Follicular [MESH:D008224] (1025)  Lymphoma, Large-Cell, Anaplastic [MESH:D017728] (420)  Lymphoma, B-Cell [MESH:D016393] (2624)   Burkitt Lymphoma [MESH:D002051] (691)  Lymphoma, Large B-Cell, Diffuse [MESH:D016403] (2012) C16. Congenital, Hereditary, and Neonatal Diseases and Abnormalities  C16. Congenital, Hereditary, and Neonatal Diseases and Abnormalities  Congenital, Hereditary, and Neonatal Diseases and Abnormalities [MESH:D009358] (12152)   Congenital Abnormalities [MESH:D000013] (8109)   Hereditary renal agenesis [MESH:C536482] (89)  Respiratory System Abnormalities [MESH:D015619] (244)  Abnormalities, Multiple [MESH:D000015] (3192)   Oculootoradial syndrome [MESH:C535544] (14)  Keutel syndrome [MESH:C536167] (102)  Van der Woude syndrome [MESH:C536528] (33)  Renal hepatic pancreatic dysplasia Dandy Walker cyst [MESH:C537756] (11)  Alagille Syndrome [MESH:D016738] (105)  Bloom Syndrome [MESH:D001816] (107)  Silver-Russell Syndrome [MESH:D056730] (142)  Wolf-Hirschhorn Syndrome [MESH:D054877] (72)  Ectodermal Dysplasia [MESH:D004476] (938)   Cranioectodermal Dysplasia [MESH:C562966] (16)  Holoprosencephaly [MESH:D016142] (218)   Holoprosencephaly 4 [MESH:C564180] (70)  Loeys-Dietz Syndrome [MESH:D055947] (263)   Loeys-Dietz Syndrome, Type 2A [MESH:C567156] (78)  Abnormalities, Severe Teratoid [MESH:D009008] (124)   Anencephaly [MESH:D000757] (120)   Neural tube defect, folate-sensitive [MESH:C536409] (111)  Cardiovascular Abnormalities [MESH:D018376] (3294)   Heart Defects, Congenital [MESH:D006330] (2611)   TARP syndrome [MESH:C536942] (18)  Alagille Syndrome [MESH:D016738] (105)  Tetralogy of Fallot [MESH:D013771] (121)  Heart Septal Defects [MESH:D006343] (385)   Heart Septal Defects, Atrial [MESH:D006344] (209)   Rapadilino syndrome [MESH:C535288] (30)  Chromosome Disorders [MESH:D025063] (2030)   Mosaic variegated aneuploidy syndrome [MESH:C536987] (95)  Silver-Russell Syndrome [MESH:D056730] (142)  Williams Syndrome [MESH:D018980] (133)  Wolf-Hirschhorn Syndrome [MESH:D054877] (72)  Holoprosencephaly [MESH:D016142] (218)   Holoprosencephaly 4 [MESH:C564180] (70)  Digestive System Abnormalities [MESH:D004065] (507)   Hirschsprung Disease [MESH:D006627] (361)  Anus, Imperforate [MESH:D001006] (140)   Oculootoradial syndrome [MESH:C535544] (14)  Eye Abnormalities [MESH:D005124] (1233)   Popliteal Pterygium Syndrome [MESH:C562509] (33)  Musculoskeletal Abnormalities [MESH:D009139] (3779)   Campomelic Dysplasia [MESH:D055036] (75)  Arthrogryposis [MESH:D001176] (329)   Lethal congenital contracture syndrome 1 [MESH:C537194] (14)  Bruck syndrome 2 [MESH:C537407] (64)  Lethal Arthrogryposis With Anterior Horn Cell Disease [MESH:C567502] (14)  Craniofacial Abnormalities [MESH:D019465] (3064)   Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)  Craniosynostoses [MESH:D003398] (438)   Craniosynostosis radial aplasia syndrome [MESH:C536788] (30)  Cranioectodermal Dysplasia [MESH:C562966] (16)  Acrocephalosyndactylia [MESH:D000168] (201)   Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42)  Holoprosencephaly [MESH:D016142] (218)   Holoprosencephaly 4 [MESH:C564180] (70)  Maxillofacial Abnormalities [MESH:D019767] (1448)   Jaw Abnormalities [MESH:D007569] (1435)   Cleft Palate [MESH:D002972] (1330)   Van der Woude syndrome [MESH:C536528] (33)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Micrognathism [MESH:D008844] (230)   Meier-Gorlin syndrome [MESH:C538012] (133)  Pierre Robin Syndrome [MESH:D010855] (101)   TARP syndrome [MESH:C536942] (18)  Microcephaly [MESH:D008831] (700)   Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Seckel syndrome 1 [MESH:C537533] (63)  Seckel syndrome 2 [MESH:C537534] (7)  Microcephalic Osteodysplastic Primordial Dwarfism, Type II [MESH:C565898] (7)  Plagiocephaly [MESH:D059041] (440)   Craniosynostoses [MESH:D003398] (438)   Craniosynostosis radial aplasia syndrome [MESH:C536788] (30)  Cranioectodermal Dysplasia [MESH:C562966] (16)  Acrocephalosyndactylia [MESH:D000168] (201)   Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42)  Limb Deformities, Congenital [MESH:D017880] (1813)   Rapadilino syndrome [MESH:C535288] (30)  Acromicric dysplasia [MESH:C535662] (520)  Brachydactyly [MESH:D059327] (220)  Foot Deformities, Congenital [MESH:D005532] (538)   Clubfoot [MESH:D003025] (79)   TARP syndrome [MESH:C536942] (18)  Hand Deformities, Congenital [MESH:D006228] (587)   Oculootoradial syndrome [MESH:C535544] (14)  Keutel syndrome [MESH:C536167] (102)  Lower Extremity Deformities, Congenital [MESH:D038061] (81)   Popliteal Pterygium Syndrome [MESH:C562509] (33)  Polydactyly [MESH:D017689] (318)   Hydrolethalus Syndrome 1 [MESH:C565504] (14)  Syndactyly [MESH:D013576] (487)   Popliteal Pterygium Syndrome [MESH:C562509] (33)  Acrocephalosyndactylia [MESH:D000168] (201)   Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42)  Synostosis [MESH:D013580] (817)   Craniosynostoses [MESH:D003398] (438)   Craniosynostosis radial aplasia syndrome [MESH:C536788] (30)  Cranioectodermal Dysplasia [MESH:C562966] (16)  Acrocephalosyndactylia [MESH:D000168] (201)   Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42)  Syndactyly [MESH:D013576] (487)   Popliteal Pterygium Syndrome [MESH:C562509] (33)  Acrocephalosyndactylia [MESH:D000168] (201)   Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42)  Nervous System Malformations [MESH:D009421] (3354)   Aicardi-Goutieres Syndrome 4 [MESH:C563681] (39)  Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172)  Agenesis of Corpus Callosum [MESH:D061085] (345)   Chudley-Mccullough syndrome [MESH:C535459] (45)  Proud Syndrome [MESH:C563110] (12)  Corpus Callosum, Partial Agenesis of, X-Linked [MESH:C564115] (37)  Holoprosencephaly [MESH:D016142] (218)   Holoprosencephaly 4 [MESH:C564180] (70)  Central Nervous System Cysts [MESH:D020863] (57)   Arachnoid Cysts [MESH:D016080] (50)   Chudley-Mccullough syndrome [MESH:C535459] (45)  Dandy-Walker Syndrome [MESH:D003616] (50)   Renal hepatic pancreatic dysplasia Dandy Walker cyst [MESH:C537756] (11)  Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899)   Spastic Paraplegia, Hereditary [MESH:D015419] (449)   MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome [MESH:C536029] (37)  Holoprosencephaly [MESH:D016142] (218)   Holoprosencephaly 4 [MESH:C564180] (70)  Malformations of Cortical Development [MESH:D054220] (1406)   Lissencephaly [MESH:D054082] (218)   Classical Lissencephalies and Subcortical Band Heterotopias [MESH:D054221] (114)   Lissencephaly, X-Linked, 2 [MESH:C564563] (12)  Microcephaly [MESH:D008831] (700)   Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Seckel syndrome 1 [MESH:C537533] (63)  Seckel syndrome 2 [MESH:C537534] (7)  Microcephalic Osteodysplastic Primordial Dwarfism, Type II [MESH:C565898] (7)  Neuronal Migration Disorders [MESH:D054081] (264)   Classical Lissencephalies and Subcortical Band Heterotopias [MESH:D054221] (114)   Lissencephaly, X-Linked, 2 [MESH:C564563] (12)  Neural Tube Defects [MESH:D009436] (2143)   Anencephaly [MESH:D000757] (120)   Neural tube defect, folate-sensitive [MESH:C536409] (111)  Skin Abnormalities [MESH:D012868] (1723)   Dyskeratosis Congenita [MESH:D019871] (185)   Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Ectodermal Dysplasia [MESH:D004476] (958)   Cranioectodermal Dysplasia [MESH:C562966] (16)  Ehlers-Danlos Syndrome [MESH:D004535] (491)   Ehlers-Danlos syndrome type 1 [MESH:C536194] (344)  Ehlers-Danlos syndrome type 2 [MESH:C536195] (55)  Ichthyosis [MESH:D007057] (481)   Keratosis Follicularis Spinulosa Decalvans, X-Linked [MESH:C536159] (78)  Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78)  Rothmund-Thomson Syndrome [MESH:D011038] (35)   Rapadilino syndrome [MESH:C535288] (30)  Xeroderma Pigmentosum [MESH:D014983] (213)   Xeroderma Pigmentosum, Complementation Group E [MESH:C564732] (38)  Stomatognathic System Abnormalities [MESH:D018640] (1705)   Maxillofacial Abnormalities [MESH:D019767] (1447)   Jaw Abnormalities [MESH:D007569] (1438)   Cleft Palate [MESH:D002972] (1330)   Van der Woude syndrome [MESH:C536528] (33)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Micrognathism [MESH:D008844] (230)   Meier-Gorlin syndrome [MESH:C538012] (133)  Pierre Robin Syndrome [MESH:D010855] (101)   TARP syndrome [MESH:C536942] (18)  Mouth Abnormalities [MESH:D009056] (1383)   Cleft Lip [MESH:D002971] (914)   Van der Woude syndrome [MESH:C536528] (33)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Cleft Palate [MESH:D002972] (1330)   Van der Woude syndrome [MESH:C536528] (33)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Urogenital Abnormalities [MESH:D014564] (2064)   Popliteal Pterygium Syndrome [MESH:C562509] (33)  Proud Syndrome [MESH:C563110] (12)  Lissencephaly, X-Linked, 2 [MESH:C564563] (12)  Cryptorchidism [MESH:D003456] (215)  Hypospadias [MESH:D007021] (798)  Disorders of Sex Development [MESH:D012734] (1637)   46, XX Disorders of Sex Development [MESH:D058489] (644)   Aromatase deficiency [MESH:C537436] (277)  Hyperandrogenism [MESH:D017588] (98)  Adrenogenital Syndrome [MESH:D047808] (715)   Hyperandrogenism [MESH:D017588] (98)  Gonadal Dysgenesis [MESH:D006059] (492)   Sexual Infantilism [MESH:D050035] (277)  Nephritis, Hereditary [MESH:D009394] (62)   Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)  Fetal Diseases [MESH:D005315] (1205)   Fetal Growth Retardation [MESH:D005317] (986)   Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Microcephalic Osteodysplastic Primordial Dwarfism, Type II [MESH:C565898] (7)  Genetic Diseases, Inborn [MESH:D030342] (9766)   Alagille Syndrome [MESH:D016738] (105)  Polycystic Kidney, Autosomal Recessive [MESH:D017044] (462)  Anemia, Hemolytic, Congenital [MESH:D000745] (2001)   Anemia, Hemolytic, Congenital Nonspherocytic [MESH:D000746] (308)  Elliptocytosis, Hereditary [MESH:D004612] (95)   Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)  Thalassemia [MESH:D013789] (501)   alpha-Thalassemia [MESH:D017085] (176)   ATR-X syndrome [MESH:C538258] (59)  Alpha-Thalassemia Myelodysplasia Syndrome [MESH:C563023] (59)  Anemia, Hypoplastic, Congenital [MESH:D029502] (1665)   Fanconi Anemia [MESH:D005199] (1604)   Fanconi Anemia, Complementation Group I [MESH:C563802] (34)  Fanconi Anemia, Complementation Group D1 [MESH:C563980] (68)  Blood Coagulation Disorders, Inherited [MESH:D025861] (722)   Activated Protein C Resistance [MESH:D020016] (140)  Cardiomyopathy, Hypertrophic, Familial [MESH:D024741] (339)   Cardiomyopathy, Familial Hypertrophic, 3 [MESH:C566170] (103)  Chromosome Disorders [MESH:D025063] (2030)   Mosaic variegated aneuploidy syndrome [MESH:C536987] (95)  Silver-Russell Syndrome [MESH:D056730] (142)  Williams Syndrome [MESH:D018980] (133)  Wolf-Hirschhorn Syndrome [MESH:D054877] (72)  Holoprosencephaly [MESH:D016142] (218)   Holoprosencephaly 4 [MESH:C564180] (70)  Dwarfism [MESH:D004392] (783)   Rapadilino syndrome [MESH:C535288] (30)  Seckel syndrome 1 [MESH:C537533] (63)  Seckel syndrome 2 [MESH:C537534] (7)  Microcephalic Osteodysplastic Primordial Dwarfism, Type II [MESH:C565898] (7)  Silver-Russell Syndrome [MESH:D056730] (142)  Eye Diseases, Hereditary [MESH:D015785] (1867)   Duane Retraction Syndrome [MESH:D004370] (43)  Albinism [MESH:D000417] (359)   Piebaldism [MESH:D016116] (167)   Griscelli syndrome type 1 [MESH:C537301] (42)  Corneal Dystrophies, Hereditary [MESH:D003317] (341)   Corneal dystrophy, gelatinous drop-like [MESH:C535480] (37)  Doyne honeycomb retinal dystrophy [MESH:C535602] (44)  Retinitis Pigmentosa [MESH:D012174] (442)   Leber Congenital Amaurosis 3 [MESH:C565814] (38)  Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract [MESH:C567203] (27)  Genetic Diseases, X-Linked [MESH:D040181] (3028)   MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome [MESH:C536029] (37)  Hydrocephalus, X-linked [MESH:C536078] (37)  Keratosis Follicularis Spinulosa Decalvans, X-Linked [MESH:C536159] (78)  Chondrodysplasia punctata 2, X-linked dominant [MESH:C538416] (61)  Panhypopituitarism X-linked [MESH:C538613] (18)  Alpha-Thalassemia Myelodysplasia Syndrome [MESH:C563023] (59)  Proud Syndrome [MESH:C563110] (12)  Corpus Callosum, Partial Agenesis of, X-Linked [MESH:C564115] (37)  Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)  Mental Retardation, X-Linked, With Panhypopituitarism [MESH:C567485] (18)  Pelizaeus-Merzbacher Disease [MESH:D020371] (103)  Dyskeratosis Congenita [MESH:D019871] (185)   Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Mental Retardation, X-Linked [MESH:D038901] (1867)   Partington X-linked mental retardation syndrome [MESH:C536300] (12)  Mental retardation-hypotonic facies syndrome, x-linked, 1 [MESH:C537457] (59)  ATR-X syndrome [MESH:C538258] (59)  Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related [MESH:C563150] (12)  Mental Retardation, X-Linked, Syndromic 14 [MESH:C567063] (30)  Lesch-Nyhan Syndrome [MESH:D007926] (129)  Mucopolysaccharidosis II [MESH:D016532] (26)  Classical Lissencephalies and Subcortical Band Heterotopias [MESH:D054221] (114)   Lissencephaly, X-Linked, 2 [MESH:C564563] (12)  Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)   Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)  Hemoglobinopathies [MESH:D006453] (1863)   Thalassemia [MESH:D013789] (511)   alpha-Thalassemia [MESH:D017085] (192)   ATR-X syndrome [MESH:C538258] (59)  Alpha-Thalassemia Myelodysplasia Syndrome [MESH:C563023] (59)  Heredodegenerative Disorders, Nervous System [MESH:D020271] (3465)   Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172)  Huntington Disease [MESH:D006816] (540)  Lesch-Nyhan Syndrome [MESH:D007926] (129)  Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899)   Spastic Paraplegia, Hereditary [MESH:D015419] (449)   MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome [MESH:C536029] (37)  Mental Retardation, X-Linked [MESH:D038901] (1848)   Partington X-linked mental retardation syndrome [MESH:C536300] (12)  Mental retardation-hypotonic facies syndrome, x-linked, 1 [MESH:C537457] (59)  ATR-X syndrome [MESH:C538258] (59)  Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related [MESH:C563150] (12)  Mental Retardation, X-Linked, Syndromic 14 [MESH:C567063] (30)  Lesch-Nyhan Syndrome [MESH:D007926] (129)  Mucopolysaccharidosis II [MESH:D016532] (26)  Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)   Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)  Neuronal Ceroid-Lipofuscinoses [MESH:D009472] (1026)   Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)  Ceroid Lipofuscinosis, Neuronal, 6 [MESH:C566627] (20)  Spinocerebellar Degenerations [MESH:D013132] (449)   Spinocerebellar Ataxia 29 [MESH:C537206] (90)  Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy [MESH:C537313] (22)  Olivopontocerebellar Atrophies [MESH:D009849] (49)   Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31)  Spinocerebellar Ataxias [MESH:D020754] (322)   Spinocerebellar Ataxia 15 [MESH:C564685] (90)  Loeys-Dietz Syndrome [MESH:D055947] (263)   Loeys-Dietz Syndrome, Type 2A [MESH:C567156] (78)  Metabolism, Inborn Errors [MESH:D008661] (6032)   3-Hydroxyacyl-CoA Dehydrogenase Deficiency [MESH:C535310] (80)  Aromatase deficiency [MESH:C537436] (277)  Coumarin Resistance [MESH:C563039] (397)  Amino Acid Metabolism, Inborn Errors [MESH:D000592] (2565)   Albinism [MESH:D000417] (359)   Piebaldism [MESH:D016116] (167)   Griscelli syndrome type 1 [MESH:C537301] (42)  Amyloidosis, Familial [MESH:D028226] (696)   Corneal dystrophy, gelatinous drop-like [MESH:C535480] (37)  Brain Diseases, Metabolic, Inborn [MESH:D020739] (2634)   Lesch-Nyhan Syndrome [MESH:D007926] (129)  Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497)   Pelizaeus-Merzbacher Disease [MESH:D020371] (103)  Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636)   Mucolipidoses [MESH:D009081] (78)   Microvillus inclusion disease [MESH:C537470] (28)  Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)   Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)  Carbohydrate Metabolism, Inborn Errors [MESH:D002239] (1100)   Congenital Disorders of Glycosylation [MESH:D018981] (188)   Congenital disorder of glycosylation type 1C [MESH:C535741] (15)  Congenital disorder of glycosylation type 1H [MESH:C535746] (19)  Glycogen Storage Disease [MESH:D006008] (530)   Glycogen Storage Disease IC [MESH:C562805] (53)  Glycogen Storage Disease Type I [MESH:D005953] (140)   Glycogen Storage Disease IB [MESH:C562594] (53)  Lactose Intolerance [MESH:D007787] (113)   Lactose Intolerance, Adult Type [MESH:C562601] (112)  Mucolipidoses [MESH:D009081] (78)   Microvillus inclusion disease [MESH:C537470] (28)  Mucopolysaccharidoses [MESH:D009083] (164)   Mucopolysaccharidosis II [MESH:D016532] (26)  Mucopolysaccharidosis IV [MESH:D009085] (46)  Pyruvate Metabolism, Inborn Errors [MESH:D015323] (324)   Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)   Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)  Lipid Metabolism, Inborn Errors [MESH:D008052] (2071)   Hyperlipoproteinemia Type II [MESH:D006938] (707)  Lipidoses [MESH:D008064] (1655)   Neuronal Ceroid-Lipofuscinoses [MESH:D009472] (1026)   Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)  Ceroid Lipofuscinosis, Neuronal, 6 [MESH:C566627] (20)  Lysosomal Storage Diseases [MESH:D016464] (761)   Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636)   Mucolipidoses [MESH:D009081] (78)   Microvillus inclusion disease [MESH:C537470] (28)  Mucopolysaccharidoses [MESH:D009083] (164)   Mucopolysaccharidosis II [MESH:D016532] (26)  Mucopolysaccharidosis IV [MESH:D009085] (46)  Metal Metabolism, Inborn Errors [MESH:D008664] (2017)   Hypophosphatemia, Familial [MESH:D007015] (276)   Familial Hypophosphatemic Rickets [MESH:D053098] (274)   Vitamin D Hydroxylation-Deficient Rickets, Type 1B [MESH:C564005] (25)  Pseudohypoparathyroidism [MESH:D011547] (88)   Albright's hereditary osteodystrophy [MESH:C537045] (82)  Pseudohypoparathyroidism Type 1B [MESH:C548075] (82)  Pseudopseudohypoparathyroidism [MESH:D011556] (82)  Purine-Pyrimidine Metabolism, Inborn Errors [MESH:D011686] (496)   Purine Nucleoside Phosphorylase Deficiency [MESH:C562587] (63)  Lesch-Nyhan Syndrome [MESH:D007926] (129)  Renal Tubular Transport, Inborn Errors [MESH:D015499] (1027)   Pseudohypoaldosteronism [MESH:D011546] (232)  Hypophosphatemia, Familial [MESH:D007015] (276)   Familial Hypophosphatemic Rickets [MESH:D053098] (274)   Vitamin D Hydroxylation-Deficient Rickets, Type 1B [MESH:C564005] (25)  Muscular Dystrophies [MESH:D009136] (1597)   Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854)  Muscular Dystrophies, Limb-Girdle [MESH:D049288] (259)   Sarcoglycanopathies [MESH:D058088] (49)   Limb-girdle muscular dystrophy, type 2C [MESH:C535900] (20)  Neoplastic Syndromes, Hereditary [MESH:D009386] (2578)   Hemangioma, capillary infantile [MESH:C535860] (190)  Turcot syndrome [MESH:C536928] (159)  Birt-Hogg-Dube Syndrome [MESH:D058249] (35)  Exostoses, Multiple Hereditary [MESH:D005097] (154)  Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)  Li-Fraumeni Syndrome [MESH:D016864] (859)  Wilms Tumor [MESH:D009396] (553)  Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (260)   Lynch Syndrome II [MESH:D055847] (103)   Muir-Torre Syndrome [MESH:D055653] (102)  Multiple Endocrine Neoplasia [MESH:D009377] (375)   Multiple Endocrine Neoplasia Type 2b [MESH:D018814] (75)  Multiple Endocrine Neoplasia Type 2a [MESH:D018813] (102)   Familial medullary thyroid carcinoma [MESH:C536911] (101)  Osteogenesis Imperfecta [MESH:D010013] (481)   Bruck syndrome 2 [MESH:C537407] (64)  Skin Diseases, Genetic [MESH:D012873] (3456)   Keratosis Follicularis Spinulosa Decalvans, X-Linked [MESH:C536159] (78)  Osseous Heteroplasia, Progressive [MESH:C562735] (82)  Pemphigus, Benign Familial [MESH:D016506] (22)  Albinism [MESH:D000417] (359)   Piebaldism [MESH:D016116] (167)   Griscelli syndrome type 1 [MESH:C537301] (42)  Dyskeratosis Congenita [MESH:D019871] (185)   Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Ectodermal Dysplasia [MESH:D004476] (958)   Cranioectodermal Dysplasia [MESH:C562966] (16)  Ehlers-Danlos Syndrome [MESH:D004535] (491)   Ehlers-Danlos syndrome type 1 [MESH:C536194] (344)  Ehlers-Danlos syndrome type 2 [MESH:C536195] (55)  Rothmund-Thomson Syndrome [MESH:D011038] (35)   Rapadilino syndrome [MESH:C535288] (30)  Xeroderma Pigmentosum [MESH:D014983] (213)   Xeroderma Pigmentosum, Complementation Group E [MESH:C564732] (38)  Infant, Newborn, Diseases [MESH:D007232] (3064)   Ichthyosis [MESH:D007057] (476)   Keratosis Follicularis Spinulosa Decalvans, X-Linked [MESH:C536159] (78)  Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78)  Rothmund-Thomson Syndrome [MESH:D011038] (35)   Rapadilino syndrome [MESH:C535288] (30) C17. Skin and Connective Tissue Diseases  C17. Skin and Connective Tissue Diseases  Connective Tissue Diseases [MESH:D003240] (4490)   Lupus Erythematosus, Systemic [MESH:D008180] (2317)  Cartilage Diseases [MESH:D002357] (438)   Keutel syndrome [MESH:C536167] (102)  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)  Nephritis, Hereditary [MESH:D009394] (62)   Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)  Osteogenesis Imperfecta [MESH:D010013] (481)   Bruck syndrome 2 [MESH:C537407] (64)  Mucinoses [MESH:D017520] (177)   Mucopolysaccharidoses [MESH:D009083] (164)   Mucopolysaccharidosis II [MESH:D016532] (26)  Mucopolysaccharidosis IV [MESH:D009085] (46)  Rheumatic Diseases [MESH:D012216] (3619)   Arthritis, Rheumatoid [MESH:D001172] (3603)  Skin Diseases [MESH:D012871] (8774)   Pruritus [MESH:D011537] (647)  Acneiform Eruptions [MESH:D017486] (1312)   Chloracne [MESH:D054506] (1274)  Breast Diseases [MESH:D001941] (6148)   Breast Neoplasms [MESH:D001943] (6077)   Breast Neoplasms, Male [MESH:D018567] (650)  Carcinoma, Ductal, Breast [MESH:D018270] (1112)  Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)  Gynecomastia [MESH:D006177] (484)   Aromatase deficiency [MESH:C537436] (277)  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)   Hypotrichosis [MESH:D007039] (1513)   Hypotrichosis simplex [MESH:C537160] (92)  Alopecia [MESH:D000505] (1453)   Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78)  Keratoacanthoma [MESH:D007636] (83)   Keratoacanthoma familial [MESH:C536150] (78)  Keratosis [MESH:D007642] (1941)   Ichthyosis [MESH:D007057] (481)   Keratosis Follicularis Spinulosa Decalvans, X-Linked [MESH:C536159] (78)  Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78)  Photosensitivity Disorders [MESH:D010787] (272)   Xeroderma Pigmentosum [MESH:D014983] (213)   Xeroderma Pigmentosum, Complementation Group E [MESH:C564732] (38)  Pigmentation Disorders [MESH:D010859] (1215)   Griscelli syndrome type 1 [MESH:C537301] (42)  Cafe-au-Lait Spots [MESH:D019080] (186)   Cafe au lait spots, multiple [MESH:C537421] (102)  Hypopigmentation [MESH:D017496] (718)   Albinism [MESH:D000417] (359)   Piebaldism [MESH:D016116] (167)   Griscelli syndrome type 1 [MESH:C537301] (42)  Xeroderma Pigmentosum [MESH:D014983] (213)   Xeroderma Pigmentosum, Complementation Group E [MESH:C564732] (38)  Sebaceous Gland Diseases [MESH:D012625] (245)   Sebaceous Gland Neoplasms [MESH:D012626] (154)   Muir-Torre Syndrome [MESH:D055653] (102)  Skin Abnormalities [MESH:D012868] (1709)   Dyskeratosis Congenita [MESH:D019871] (185)   Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Ectodermal Dysplasia [MESH:D004476] (958)   Cranioectodermal Dysplasia [MESH:C562966] (16)  Ehlers-Danlos Syndrome [MESH:D004535] (491)   Ehlers-Danlos syndrome type 1 [MESH:C536194] (344)  Ehlers-Danlos syndrome type 2 [MESH:C536195] (55)  Ichthyosis [MESH:D007057] (481)   Keratosis Follicularis Spinulosa Decalvans, X-Linked [MESH:C536159] (78)  Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78)  Rothmund-Thomson Syndrome [MESH:D011038] (35)   Rapadilino syndrome [MESH:C535288] (30)  Xeroderma Pigmentosum [MESH:D014983] (213)   Xeroderma Pigmentosum, Complementation Group E [MESH:C564732] (38)  Skin Diseases, Eczematous [MESH:D017443] (3740)   Dermatitis, Contact [MESH:D003877] (3394)   Dermatitis, Allergic Contact [MESH:D017449] (3241)  Skin Diseases, Genetic [MESH:D012873] (3481)   Keratosis Follicularis Spinulosa Decalvans, X-Linked [MESH:C536159] (78)  Osseous Heteroplasia, Progressive [MESH:C562735] (82)  Muir-Torre Syndrome [MESH:D055653] (102)  Pemphigus, Benign Familial [MESH:D016506] (22)  Albinism [MESH:D000417] (359)   Piebaldism [MESH:D016116] (167)   Griscelli syndrome type 1 [MESH:C537301] (42)  Dyskeratosis Congenita [MESH:D019871] (185)   Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Ectodermal Dysplasia [MESH:D004476] (958)   Cranioectodermal Dysplasia [MESH:C562966] (16)  Ehlers-Danlos Syndrome [MESH:D004535] (491)   Ehlers-Danlos syndrome type 1 [MESH:C536194] (344)  Ehlers-Danlos syndrome type 2 [MESH:C536195] (55)  Rothmund-Thomson Syndrome [MESH:D011038] (35)   Rapadilino syndrome [MESH:C535288] (30)  Xeroderma Pigmentosum [MESH:D014983] (213)   Xeroderma Pigmentosum, Complementation Group E [MESH:C564732] (38)  Skin Diseases, Metabolic [MESH:D012875] (1574)   Lipodystrophy [MESH:D008060] (930)   Lipodystrophy, Partial, Acquired [MESH:C562448] (26)  Skin Diseases, Papulosquamous [MESH:D017444] (3392)   Psoriasis [MESH:D011565] (3278)  Skin Diseases, Vesiculobullous [MESH:D012872] (1754)   Pemphigus, Benign Familial [MESH:D016506] (22)  Skin Neoplasms [MESH:D012878] (2991)   Sebaceous Gland Neoplasms [MESH:D012626] (154)   Muir-Torre Syndrome [MESH:D055653] (102) C18. Nutritional and Metabolic Diseases  C18. Nutritional and Metabolic Diseases  Metabolic Diseases [MESH:D008659] (9025)   Metabolic Syndrome X [MESH:D024821] (2151)  Acid-Base Imbalance [MESH:D000137] (854)   Acidosis [MESH:D000138] (626)   Succinyl-CoA:3-oxoacid CoA transferase deficiency [MESH:C537527] (38)  Acidosis, Lactic [MESH:D000140] (204)  Brain Diseases, Metabolic [MESH:D001928] (3350)   Hepatic Encephalopathy [MESH:D006501] (1795)  Mitochondrial Encephalomyopathies [MESH:D017237] (158)  Brain Diseases, Metabolic, Inborn [MESH:D020739] (2634)   Lesch-Nyhan Syndrome [MESH:D007926] (129)  Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497)   Pelizaeus-Merzbacher Disease [MESH:D020371] (103)  Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636)   Mucolipidoses [MESH:D009081] (78)   Microvillus inclusion disease [MESH:C537470] (28)  Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)   Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)  Calcium Metabolism Disorders [MESH:D002128] (3634)   Calcinosis [MESH:D002114] (2989)   Keutel syndrome [MESH:C536167] (102)  Calcification of Joints and Arteries [MESH:C565891] (60)  Vascular Calcification [MESH:D061205] (138)  Pseudohypoparathyroidism [MESH:D011547] (88)   Albright's hereditary osteodystrophy [MESH:C537045] (82)  Pseudohypoparathyroidism Type 1B [MESH:C548075] (82)  Pseudopseudohypoparathyroidism [MESH:D011556] (82)  Rickets [MESH:D012279] (341)   Rickets, Hypophosphatemic [MESH:D063730] (276)   Familial Hypophosphatemic Rickets [MESH:D053098] (274)   Vitamin D Hydroxylation-Deficient Rickets, Type 1B [MESH:C564005] (25)  DNA Repair-Deficiency Disorders [MESH:D049914] (2245)   Bloom Syndrome [MESH:D001816] (107)  Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258)  Li-Fraumeni Syndrome [MESH:D016864] (859)  Fanconi Anemia [MESH:D005199] (1604)   Fanconi Anemia, Complementation Group I [MESH:C563802] (34)  Fanconi Anemia, Complementation Group D1 [MESH:C563980] (68)  Rothmund-Thomson Syndrome [MESH:D011038] (35)   Rapadilino syndrome [MESH:C535288] (30)  Xeroderma Pigmentosum [MESH:D014983] (213)   Xeroderma Pigmentosum, Complementation Group E [MESH:C564732] (38)  Glucose Metabolism Disorders [MESH:D044882] (6122)   Diabetes Mellitus [MESH:D003920] (5891)   Diabetes Mellitus, Experimental [MESH:D003921] (4771)  Diabetes Mellitus, Type 1 [MESH:D003922] (1897)  Diabetes Mellitus, Type 2 [MESH:D003924] (4219)  Diabetes, Gestational [MESH:D016640] (1152)  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)  Lipid Metabolism Disorders [MESH:D052439] (3225)   Dyslipidemias [MESH:D050171] (2428)   Hyperlipidemias [MESH:D006949] (1908)   Hypercholesterolemia [MESH:D006937] (1404)  Hyperlipoproteinemias [MESH:D006951] (903)   Hyperlipoproteinemia Type II [MESH:D006938] (707)  Lipodystrophy [MESH:D008060] (930)   Lipodystrophy, Partial, Acquired [MESH:C562448] (26)  Lipidoses [MESH:D008064] (1655)   Neuronal Ceroid-Lipofuscinoses [MESH:D009472] (1026)   Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)  Ceroid Lipofuscinosis, Neuronal, 6 [MESH:C566627] (20)  Malabsorption Syndromes [MESH:D008286] (1869)   Microvillus inclusion disease [MESH:C537470] (28)  Lactose Intolerance [MESH:D007787] (113)   Lactose Intolerance, Adult Type [MESH:C562601] (112)  Metabolism, Inborn Errors [MESH:D008661] (6028)   3-Hydroxyacyl-CoA Dehydrogenase Deficiency [MESH:C535310] (80)  Aromatase deficiency [MESH:C537436] (277)  Coumarin Resistance [MESH:C563039] (397)  Amino Acid Metabolism, Inborn Errors [MESH:D000592] (2559)   Albinism [MESH:D000417] (359)   Piebaldism [MESH:D016116] (167)   Griscelli syndrome type 1 [MESH:C537301] (42)  Amyloidosis, Familial [MESH:D028226] (696)   Corneal dystrophy, gelatinous drop-like [MESH:C535480] (37)  Brain Diseases, Metabolic, Inborn [MESH:D020739] (2634)   Lesch-Nyhan Syndrome [MESH:D007926] (129)  Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497)   Pelizaeus-Merzbacher Disease [MESH:D020371] (103)  Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636)   Mucolipidoses [MESH:D009081] (78)   Microvillus inclusion disease [MESH:C537470] (28)  Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)   Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)  Carbohydrate Metabolism, Inborn Errors [MESH:D002239] (1100)   Congenital Disorders of Glycosylation [MESH:D018981] (188)   Congenital disorder of glycosylation type 1C [MESH:C535741] (15)  Congenital disorder of glycosylation type 1H [MESH:C535746] (19)  Glycogen Storage Disease [MESH:D006008] (530)   Glycogen Storage Disease IC [MESH:C562805] (53)  Glycogen Storage Disease Type I [MESH:D005953] (140)   Glycogen Storage Disease IB [MESH:C562594] (53)  Lactose Intolerance [MESH:D007787] (113)   Lactose Intolerance, Adult Type [MESH:C562601] (112)  Mucolipidoses [MESH:D009081] (78)   Microvillus inclusion disease [MESH:C537470] (28)  Mucopolysaccharidoses [MESH:D009083] (164)   Mucopolysaccharidosis II [MESH:D016532] (26)  Mucopolysaccharidosis IV [MESH:D009085] (46)  Pyruvate Metabolism, Inborn Errors [MESH:D015323] (324)   Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)   Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)  Lipid Metabolism, Inborn Errors [MESH:D008052] (2071)   Hyperlipoproteinemia Type II [MESH:D006938] (707)  Lipidoses [MESH:D008064] (1655)   Neuronal Ceroid-Lipofuscinoses [MESH:D009472] (1026)   Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)  Ceroid Lipofuscinosis, Neuronal, 6 [MESH:C566627] (20)  Lysosomal Storage Diseases [MESH:D016464] (761)   Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636)   Mucolipidoses [MESH:D009081] (78)   Microvillus inclusion disease [MESH:C537470] (28)  Mucopolysaccharidoses [MESH:D009083] (164)   Mucopolysaccharidosis II [MESH:D016532] (26)  Mucopolysaccharidosis IV [MESH:D009085] (46)  Metal Metabolism, Inborn Errors [MESH:D008664] (2017)   Hypophosphatemia, Familial [MESH:D007015] (276)   Familial Hypophosphatemic Rickets [MESH:D053098] (274)   Vitamin D Hydroxylation-Deficient Rickets, Type 1B [MESH:C564005] (25)  Pseudohypoparathyroidism [MESH:D011547] (88)   Albright's hereditary osteodystrophy [MESH:C537045] (82)  Pseudohypoparathyroidism Type 1B [MESH:C548075] (82)  Pseudopseudohypoparathyroidism [MESH:D011556] (82)  Purine-Pyrimidine Metabolism, Inborn Errors [MESH:D011686] (496)   Purine Nucleoside Phosphorylase Deficiency [MESH:C562587] (63)  Lesch-Nyhan Syndrome [MESH:D007926] (129)  Renal Tubular Transport, Inborn Errors [MESH:D015499] (1026)   Pseudohypoaldosteronism [MESH:D011546] (232)  Hypophosphatemia, Familial [MESH:D007015] (276)   Familial Hypophosphatemic Rickets [MESH:D053098] (274)   Vitamin D Hydroxylation-Deficient Rickets, Type 1B [MESH:C564005] (25)  Mitochondrial Diseases [MESH:D028361] (2561)   Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation [MESH:C567009] (13)  Mitochondrial Myopathies [MESH:D017240] (2176)   Mitochondrial Encephalomyopathies [MESH:D017237] (1121)  Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)   Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)  Phosphorus Metabolism Disorders [MESH:D010760] (711)   Hypophosphatemia [MESH:D017674] (640)   Hypophosphatemia, Familial [MESH:D007015] (276)   Familial Hypophosphatemic Rickets [MESH:D053098] (274)   Vitamin D Hydroxylation-Deficient Rickets, Type 1B [MESH:C564005] (25)  Rickets, Hypophosphatemic [MESH:D063730] (276)   Familial Hypophosphatemic Rickets [MESH:D053098] (274)   Vitamin D Hydroxylation-Deficient Rickets, Type 1B [MESH:C564005] (25)  Proteostasis Deficiencies [MESH:D057165] (3522)   Amyloidosis [MESH:D000686] (791)   Amyloidosis, Familial [MESH:D028226] (696)   Corneal dystrophy, gelatinous drop-like [MESH:C535480] (37)  TDP-43 Proteinopathies [MESH:D057177] (3337)   Amyotrophic Lateral Sclerosis [MESH:D000690] (3296)   Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559)  Skin Diseases, Metabolic [MESH:D012875] (1574)   Lipodystrophy [MESH:D008060] (930)   Lipodystrophy, Partial, Acquired [MESH:C562448] (26)  Nutrition Disorders [MESH:D009748] (4945)   Malnutrition [MESH:D044342] (2754)   Deficiency Diseases [MESH:D003677] (2742)   Avitaminosis [MESH:D001361] (2304)   Vitamin A Deficiency [MESH:D014802] (705)  Vitamin B Deficiency [MESH:D014804] (1817)   Folic Acid Deficiency [MESH:D005494] (134)  Vitamin D Deficiency [MESH:D014808] (360)   Rickets [MESH:D012279] (341)   Rickets, Hypophosphatemic [MESH:D063730] (276)   Familial Hypophosphatemic Rickets [MESH:D053098] (274)   Vitamin D Hydroxylation-Deficient Rickets, Type 1B [MESH:C564005] (25)  Overnutrition [MESH:D044343] (4463)   Obesity [MESH:D009765] (4462)   Obesity, Morbid [MESH:D009767] (515) C19. Endocrine System Diseases  C19. Endocrine System Diseases  Z. Exceptions (123)   Not Fully Specified [NFS] (123)  Endocrine System Diseases [MESH:D004700] (8062)   Adrenal Gland Diseases [MESH:D000307] (2397)   Adrenal Insufficiency [MESH:D000309] (1599)   Achalasia Addisonianism Alacrimia syndrome [MESH:C536008] (24)  Diabetes Mellitus [MESH:D003920] (6159)   Diabetes, Gestational [MESH:D016640] (1152)  Diabetes Mellitus, Experimental [MESH:D003921] (4771)  Diabetes Mellitus, Type 1 [MESH:D003922] (1897)  Diabetes Mellitus, Type 2 [MESH:D003924] (4219)  Diabetes Complications [MESH:D048909] (4129)   Diabetic Nephropathies [MESH:D003928] (2301)  Diabetic Angiopathies [MESH:D003925] (1984)   Diabetic Retinopathy [MESH:D003930] (1371)  Dwarfism [MESH:D004392] (698)   Rapadilino syndrome [MESH:C535288] (30)  Seckel syndrome 1 [MESH:C537533] (63)  Seckel syndrome 2 [MESH:C537534] (7)  Microcephalic Osteodysplastic Primordial Dwarfism, Type II [MESH:C565898] (7)  Endocrine Gland Neoplasms [MESH:D004701] (4925)   Multiple Endocrine Neoplasia [MESH:D009377] (375)   Multiple Endocrine Neoplasia Type 2b [MESH:D018814] (75)  Multiple Endocrine Neoplasia Type 2a [MESH:D018813] (102)   Familial medullary thyroid carcinoma [MESH:C536911] (101)  Ovarian Neoplasms [MESH:D010051] (3275)   Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)  Pancreatic Neoplasms [MESH:D010190] (3820)   Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)  Pituitary Neoplasms [MESH:D010911] (981)   ACTH-Secreting Pituitary Adenoma [MESH:D049913] (172)  Growth Hormone-Secreting Pituitary Adenoma [MESH:D049912] (383)  Thyroid Neoplasms [MESH:D013964] (2040)   Familial medullary thyroid carcinoma [MESH:C536911] (101)  Thyroid cancer, medullary [MESH:C536914] (74)  Gonadal Disorders [MESH:D006058] (5088)   Puberty, Delayed [MESH:D011628] (449)  Puberty, Precocious [MESH:D011629] (1147)  Disorders of Sex Development [MESH:D012734] (1637)   46, XX Disorders of Sex Development [MESH:D058489] (644)   Aromatase deficiency [MESH:C537436] (277)  Hyperandrogenism [MESH:D017588] (98)  Adrenogenital Syndrome [MESH:D047808] (715)   Hyperandrogenism [MESH:D017588] (98)  Gonadal Dysgenesis [MESH:D006059] (492)   Sexual Infantilism [MESH:D050035] (277)  Hypogonadism [MESH:D007006] (1123)   Mental retardation-hypotonic facies syndrome, x-linked, 1 [MESH:C537457] (59)  Sexual Infantilism [MESH:D050035] (277)  Ovarian Diseases [MESH:D010049] (4253)   Ovarian Cysts [MESH:D010048] (2534)   Polycystic Ovary Syndrome [MESH:D011085] (2186)  Ovarian Neoplasms [MESH:D010051] (3281)   Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)  Testicular Diseases [MESH:D013733] (777)   Cryptorchidism [MESH:D003456] (215)  Pituitary Diseases [MESH:D010900] (1829)   Hyperpituitarism [MESH:D006964] (1259)   Acromegaly [MESH:D000172] (466)  Hypopituitarism [MESH:D007018] (732)   Panhypopituitarism X-linked [MESH:C538613] (18)  Mental Retardation, X-Linked, With Panhypopituitarism [MESH:C567485] (18)  Pituitary Neoplasms [MESH:D010911] (981)   ACTH-Secreting Pituitary Adenoma [MESH:D049913] (172)  Growth Hormone-Secreting Pituitary Adenoma [MESH:D049912] (383)  Thyroid Diseases [MESH:D013959] (2808)   Thyroid Neoplasms [MESH:D013964] (2040)   Familial medullary thyroid carcinoma [MESH:C536911] (101)  Thyroid cancer, medullary [MESH:C536914] (74) C20. Immune System Diseases  C20. Immune System Diseases  Immune System Diseases [MESH:D007154] (7674)   Autoimmune Diseases [MESH:D001327] (5067)   Arthritis, Rheumatoid [MESH:D001172] (3601)  Diabetes Mellitus, Type 1 [MESH:D003922] (1893)  Lupus Erythematosus, Systemic [MESH:D008180] (2317)  Autoimmune Diseases of the Nervous System [MESH:D020274] (2238)   Aicardi-Goutieres Syndrome 4 [MESH:C563681] (39)  Demyelinating Autoimmune Diseases, CNS [MESH:D020278] (1732)   Multiple Sclerosis [MESH:D009103] (1716)  Nervous System Autoimmune Disease, Experimental [MESH:D020721] (810)   Encephalomyelitis, Autoimmune, Experimental [MESH:D004681] (806)  Polyradiculoneuropathy [MESH:D011129] (197)   Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172)  Hypersensitivity [MESH:D006967] (5873)   Hypersensitivity, Delayed [MESH:D006968] (3408)   Dermatitis, Allergic Contact [MESH:D017449] (3241)  Hypersensitivity, Immediate [MESH:D006969] (4980)   Respiratory Hypersensitivity [MESH:D012130] (4250)   Asthma [MESH:D001249] (3914)  Immunologic Deficiency Syndromes [MESH:D007153] (3788)   Complement component 5 deficiency [MESH:C537005] (55)  HIV Infections [MESH:D015658] (3402)   AIDS-Related Opportunistic Infections [MESH:D017088] (944)   AIDS-related Kaposi sarcoma [MESH:C554498] (914)  Immunoproliferative Disorders [MESH:D007160] (4761)   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)  Precursor Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054198] (1754)   Precursor T-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054218] (510)  Lymphangiomyoma [MESH:D008203] (163)   Lymphangioleiomyomatosis [MESH:D018192] (162)  Lymphoma [MESH:D008223] (3684)   Lymphoma, Non-Hodgkin [MESH:D008228] (3330)   Burkitt Lymphoma [MESH:D002051] (691)  Lymphoma, Follicular [MESH:D008224] (1025)  Lymphoma, B-Cell [MESH:D016393] (2624)   Burkitt Lymphoma [MESH:D002051] (691)  Lymphoma, Large B-Cell, Diffuse [MESH:D016403] (2012)  Lymphoma, T-Cell [MESH:D016399] (1382)   Lymphoma, Large-Cell, Anaplastic [MESH:D017728] (420)  Paraproteinemias [MESH:D010265] (2791)   Multiple Myeloma [MESH:D009101] (2765) C22. Animal Diseases  C22. Animal Diseases  Animal Diseases [MESH:D000820] (3656)   Disease Models, Animal [MESH:D004195] (2058)  Hepatitis, Animal [MESH:D006520] (260)  Mammary Neoplasms, Animal [MESH:D015674] (2735) C23. Pathological Conditions, Signs and Symptoms  C23. Pathological Conditions, Signs and Symptoms  Pathological Conditions, Anatomical [MESH:D020763] (6074)   Plaque, Atherosclerotic [MESH:D058226] (696)  Ventricular Remodeling [MESH:D020257] (686)  Agenesis of Corpus Callosum [MESH:D061085] (197)   Chudley-Mccullough syndrome [MESH:C535459] (45)  Proud Syndrome [MESH:C563110] (12)  Corpus Callosum, Partial Agenesis of, X-Linked [MESH:C564115] (37)  Alopecia [MESH:D000505] (1383)   Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78)  Atrophy [MESH:D001284] (2603)   Muscular Atrophy [MESH:D009133] (1234)  Calculi [MESH:D002137] (756)   Gallstones [MESH:D042882] (350)  Cysts [MESH:D003560] (133)   Van der Woude syndrome [MESH:C536528] (33)  Hypertrophy [MESH:D006984] (4476)   Hepatomegaly [MESH:D006529] (1169)  Cardiomegaly [MESH:D006332] (3802)   Hypertrophy, Left Ventricular [MESH:D017379] (1430)  Nails, Malformed [MESH:D009264] (184)   Anonychia congenita [MESH:C536377] (69)  Polyps [MESH:D011127] (1633)   Intestinal Polyps [MESH:D007417] (1592)  Pathologic Processes [MESH:D010335] (9863)   Emphysema [MESH:D004646] (1096)  Gliosis [MESH:D005911] (1419)  Hyperammonemia [MESH:D022124] (322)  Hyperplasia [MESH:D006965] (2463)  Ischemia [MESH:D007511] (3049)  Necrosis [MESH:D009336] (4019)  Nerve Degeneration [MESH:D009410] (4061)  Ulcer [MESH:D014456] (392)  Arrhythmias, Cardiac [MESH:D001145] (4658)   Tachycardia [MESH:D013610] (3339)  Chromosome Aberrations [MESH:D002869] (2352)   Chromosomal Instability [MESH:D043171] (67)  Chromosome Breakage [MESH:D019457] (139)  Aneuploidy [MESH:D000782] (1237)   Monosomy [MESH:D009006] (1121)   Chromosome Deletion [MESH:D002872] (1117)   Chromosome 3, monosomy 3p25 [MESH:C536807] (76)  Death [MESH:D003643] (1328)   Fetal Death [MESH:D005313] (464)  Death, Sudden [MESH:D003645] (725)   Sudden Infant Death [MESH:D013398] (268)   Sudden Infant Death with Dysgenesis of the Testes Syndrome [MESH:C563856] (16)  Disease Attributes [MESH:D020969] (3654)   Critical Illness [MESH:D016638] (296)  Disease Progression [MESH:D018450] (2868)  Facies [MESH:D019066] (738)  Fibrosis [MESH:D005355] (3133)   Cicatrix [MESH:D002921] (1115)   Keloid [MESH:D007627] (1110)  Genomic Instability [MESH:D042822] (184)   Chromosomal Instability [MESH:D043171] (67)  Growth Disorders [MESH:D006130] (2438)   Mental retardation-hypotonic facies syndrome, x-linked, 1 [MESH:C537457] (59)  Meier-Gorlin syndrome [MESH:C538012] (133)  Spondyloepimetaphyseal Dysplasia, Pakistani Type [MESH:C567551] (63)  Fetal Growth Retardation [MESH:D005317] (986)   Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Microcephalic Osteodysplastic Primordial Dwarfism, Type II [MESH:C565898] (7)  Hemorrhage [MESH:D006470] (4451)   Intracranial Hemorrhages [MESH:D020300] (3241)   Cerebral Hemorrhage [MESH:D002543] (2872)  Purpura [MESH:D011693] (475)   Purpura, Thrombocytopenic [MESH:D011696] (237)   Purpura, Thrombotic Thrombocytopenic [MESH:D011697] (222)  Inflammation [MESH:D007249] (5241)   Neurogenic Inflammation [MESH:D020078] (2246)  Menstruation Disturbances [MESH:D008599] (926)   Amenorrhea [MESH:D000568] (817)  Metaplasia [MESH:D008679] (1469)   Neovascularization, Pathologic [MESH:D009389] (829)   Choroidal Neovascularization [MESH:D020256] (550)  Neoplastic Processes [MESH:D009385] (5317)   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)  Ossification, Heterotopic [MESH:D009999] (187)   Osseous Heteroplasia, Progressive [MESH:C562735] (82)  Postoperative Complications [MESH:D011183] (5311)   Reperfusion Injury [MESH:D015427] (4968)   Myocardial Reperfusion Injury [MESH:D015428] (3500)  Signs and Symptoms [MESH:D012816] (10659)   Cyanosis [MESH:D003490] (288)  Body Weight [MESH:D001835] (4972)   Body Weight Changes [MESH:D001836] (3206)   Weight Gain [MESH:D015430] (2595)  Overweight [MESH:D050177] (4455)   Obesity [MESH:D009765] (4454)   Obesity, Morbid [MESH:D009767] (515)  Edema [MESH:D004487] (3726)   Edema, Cardiac [MESH:D004489] (27)  Neurologic Manifestations [MESH:D009461] (8702)   Gait Disorders, Neurologic [MESH:D020233] (491)  Dyskinesias [MESH:D020820] (3285)   Hyperkinesis [MESH:D006948] (1799)  Ataxia [MESH:D001259] (984)   Partington X-linked mental retardation syndrome [MESH:C536300] (12)  Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract [MESH:C567203] (27)  Neurobehavioral Manifestations [MESH:D019954] (4706)   Apraxias [MESH:D001072] (114)  Memory Disorders [MESH:D008569] (3233)  Communication Disorders [MESH:D003147] (2918)   Learning Disorders [MESH:D007859] (2727)  Language Disorders [MESH:D007806] (653)   Speech Disorders [MESH:D013064] (482)   Aphasia [MESH:D001037] (219)  Intellectual Disability [MESH:D008607] (1476)   MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome [MESH:C536029] (37)  Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Proud Syndrome [MESH:C563110] (12)  Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)  Mental Retardation, X-Linked, With Panhypopituitarism [MESH:C567485] (18)  Psychomotor Disorders [MESH:D011596] (576)   Apraxias [MESH:D001072] (118)  Neuromuscular Manifestations [MESH:D020879] (2130)   Muscular Atrophy [MESH:D009133] (1234)  Pain [MESH:D010146] (3869)   Neuralgia [MESH:D009437] (2074)  Paralysis [MESH:D010243] (2298)   Ophthalmoplegia [MESH:D009886] (1468)   Oculootoradial syndrome [MESH:C535544] (14)  Seizures [MESH:D012640] (4502)   Partington X-linked mental retardation syndrome [MESH:C536300] (12)  Sensation Disorders [MESH:D012678] (5009)   Hearing Disorders [MESH:D006311] (2101)   Hearing Loss [MESH:D034381] (2066)   Deafness [MESH:D003638] (593)   Mental retardation-hypotonic facies syndrome, x-linked, 1 [MESH:C537457] (59)  Hearing Loss, Bilateral [MESH:D006312] (55)   Oculootoradial syndrome [MESH:C535544] (14)  Hearing Loss, Sensorineural [MESH:D006319] (1227)   Chudley-Mccullough syndrome [MESH:C535459] (45)  Griscelli syndrome type 1 [MESH:C537301] (42)  Deafness, Autosomal Recessive 37 [MESH:C564331] (35)  Hearing Loss, Central [MESH:D006313] (140)   Auditory Neuropathy, Autosomal Dominant, 1 [MESH:C563790] (92)  Somatosensory Disorders [MESH:D020886] (4000)   Hyperalgesia [MESH:D006930] (3929)  Pain [MESH:D010146] (4511)   Neuralgia [MESH:D009437] (2074)  Chest Pain [MESH:D002637] (2642)   Angina Pectoris [MESH:D000787] (2568)   Acute Coronary Syndrome [MESH:D054058] (2286)  Facial Pain [MESH:D005157] (56)   Toothache [MESH:D014098] (46)  Signs and Symptoms, Digestive [MESH:D012817] (3095)   Diarrhea [MESH:D003967] (858)  Hyperphagia [MESH:D006963] (206)  Signs and Symptoms, Respiratory [MESH:D012818] (2724)   Anoxia [MESH:D000860] (1698)  Hypoventilation [MESH:D007040] (359)   Congenital central hypoventilation syndrome [MESH:C536209] (341)  Skin Manifestations [MESH:D012877] (1250)   Pruritus [MESH:D011537] (648)  Cafe-au-Lait Spots [MESH:D019080] (186)   Cafe au lait spots, multiple [MESH:C537421] (102)  Purpura [MESH:D011693] (475)   Purpura, Thrombocytopenic [MESH:D011696] (237)   Purpura, Thrombotic Thrombocytopenic [MESH:D011697] (222)  Urological Manifestations [MESH:D020924] (3532)   Polyuria [MESH:D011141] (279)  Proteinuria [MESH:D011507] (3293)   Albuminuria [MESH:D000419] (2394)  Hemoglobinuria [MESH:D006456] (75)   CD59 Deficiency [MESH:C567355] (57) C24. Occupational Diseases  C24. Occupational Diseases  Occupational Diseases [MESH:D009784] (3402)  Z. Exceptions (1530)   Not Fully Specified [NFS] (1530) C25. Chemically-Induced Disorders  C25. Chemically-Induced Disorders  Drug-Related Side Effects and Adverse Reactions [MESH:D064420] (5839)   Drug-Induced Liver Injury [MESH:D056486] (4936)  Poisoning [MESH:D011041] (6703)   Arsenic Poisoning [MESH:D020261] (2540)  Cadmium Poisoning [MESH:D002105] (180)  Drug-Induced Liver Injury [MESH:D056486] (4936)  Psychoses, Substance-Induced [MESH:D011605] (2053)  Neurotoxicity Syndromes [MESH:D020258] (3323)   Alcohol-Induced Disorders, Nervous System [MESH:D020268] (128)   Alcohol Withdrawal Seizures [MESH:D020270] (64)  Substance-Related Disorders [MESH:D019966] (6308)   Amphetamine-Related Disorders [MESH:D019969] (2858)  Cocaine-Related Disorders [MESH:D019970] (3054)  Marijuana Abuse [MESH:D002189] (1132)  Phencyclidine Abuse [MESH:D010623] (288)  Psychoses, Substance-Induced [MESH:D011605] (2052)  Alcohol-Related Disorders [MESH:D019973] (3869)   Alcohol-Induced Disorders [MESH:D020751] (3350)   Alcohol-Induced Disorders, Nervous System [MESH:D020268] (128)   Alcohol Withdrawal Seizures [MESH:D020270] (64)  Liver Diseases, Alcoholic [MESH:D008108] (3243)   Liver Cirrhosis, Alcoholic [MESH:D008104] (3066)  Substance Withdrawal Syndrome [MESH:D013375] (2956)   Alcohol Withdrawal Seizures [MESH:D020270] (64) C26. Wounds and Injuries  C26. Wounds and Injuries  Wounds and Injuries [MESH:D014947] (5171)   Craniocerebral Trauma [MESH:D006259] (3523)   Brain Injuries [MESH:D001930] (3431)  Fractures, Bone [MESH:D050723] (597)   Femoral Fractures [MESH:D005264] (137)  Leg Injuries [MESH:D007869] (152)   Femoral Fractures [MESH:D005264] (137)  Radiation Injuries [MESH:D011832] (2718)   Radiation Injuries, Experimental [MESH:D011833] (2662)  Rupture [MESH:D012421] (646)   Aortic Rupture [MESH:D001019] (637)  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)   Hydrocarbons [MESH:D006838] (35762)   Hydrocarbons, Cyclic [MESH:D006844] (22983)   Hydrocarbons, Aromatic [MESH:D006841] (19108)   Benzene Derivatives [MESH:D001555] (10684)   Benzyl Compounds [MESH:D001593] (1106)   Lignans [MESH:D017705] (572)  Lactones [MESH:D007783] (2728)   4-Butyrolactone [MESH:D015107] (350) D03. Heterocyclic Compounds  D03. Heterocyclic Compounds  Heterocyclic Compounds [MESH:D006571] (56330)   Heterocyclic Compounds, 1-Ring [MESH:D006573] (30631)   Furans [MESH:D005663] (1766)   4-Butyrolactone [MESH:D015107] (350) D27. Chemical Actions and Uses  D27. Chemical Actions and Uses  Pharmacologic Actions [MESH:D020228] (2566)   Physiological Effects of Drugs [MESH:D045505] (1186)   Hormones, Hormone Substitutes, and Hormone Antagonists [MESH:D006730] (109)   Hormones [MESH:D006728] (45)   Estrogens [MESH:D004967] (14)   Estrogens, Non-Steroidal [MESH:D004968] (9)   Phytoestrogens [MESH:D048789] (7) F. Psychiatry and Psychology  F. Psychiatry and Psychology  Behavior and Behavior Mechanisms [MESH:D001520] (1594)   Neurobehavioral Manifestations [MESH:D019954] (1206)   Intellectual Disability [MESH:D008607] (1109)   MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome [MESH:C536029] (37)  Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Proud Syndrome [MESH:C563110] (12)  Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)  Mental Retardation, X-Linked, With Panhypopituitarism [MESH:C567485] (18)  Mental Disorders [MESH:D001523] (2063)   Mental Disorders Diagnosed in Childhood [MESH:D019952] (1245)   Intellectual Disability [MESH:D008607] (1109)   MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome [MESH:C536029] (37)  Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Proud Syndrome [MESH:C563110] (12)  Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)  Mental Retardation, X-Linked, With Panhypopituitarism [MESH:C567485] (18)  Sexual and Gender Disorders [MESH:D019968] (624)   Disorders of Sex Development [MESH:D012734] (609)   46, XX Disorders of Sex Development [MESH:D058489] (375)   Aromatase deficiency [MESH:C537436] (277) G. Phenomena and Processes  G. Phenomena and Processes  Genetic Phenomena [MESH:D055614] (1922)   Genetic Processes [MESH:D039361] (1336)   Mutagenesis [MESH:D016296] (1150)   Sequence Deletion [MESH:D017384] (1120)   Chromosome Deletion [MESH:D002872] (1117)   Chromosome 3, monosomy 3p25 [MESH:C536807] (76)  Genetic Structures [MESH:D040342] (1612)   Chromosomes [MESH:D002875] (1304)   Chromosomes, Mammalian [MESH:D033481] (1282)   Chromosomes, Human [MESH:D002877] (1280)   Chromosomes, Human, 1-3 [MESH:D002900] (128)   Chromosomes, Human, Pair 3 [MESH:D002893] (90)   Chromosome 3, monosomy 3p25 [MESH:C536807] (76)  Genetic Variation [MESH:D014644] (1337)   Mutation [MESH:D009154] (1327)   Allelic Imbalance [MESH:D022981] (1120)   Loss of Heterozygosity [MESH:D019656] (1119)   Chromosome Deletion [MESH:D002872] (1117)   Chromosome 3, monosomy 3p25 [MESH:C536807] (76)  Chromosome Aberrations [MESH:D002869] (1297)   Aneuploidy [MESH:D000782] (1220)   Monosomy [MESH:D009006] (1121)   Chromosome Deletion [MESH:D002872] (1117)   Chromosome 3, monosomy 3p25 [MESH:C536807] (76)  Mosaicism [MESH:D009030] (116)   Mosaic variegated aneuploidy syndrome [MESH:C536987] (95)  Sequence Deletion [MESH:D017384] (1120)   Chromosome Deletion [MESH:D002872] (1117)   Chromosome 3, monosomy 3p25 [MESH:C536807] (76)  Ploidies [MESH:D011003] (1227)   Aneuploidy [MESH:D000782] (1220)   Monosomy [MESH:D009006] (1121)   Chromosome Deletion [MESH:D002872] (1117)   Chromosome 3, monosomy 3p25 [MESH:C536807] (76)