more general categories |
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1. Human Genes |
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1. Human Genes |
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abhydrolase domain containing 12 [HGNC:ABHD12] (7) |
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cholinergic receptor, nicotinic, alpha 5 (neuronal) [HGNC:CHRNA5] (22) |
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acyl-CoA thioesterase 7 [HGNC:ACOT7] (13) |
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1-acylglycerol-3-phosphate O-acyltransferase 3 [HGNC:AGPAT3] (13) |
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A kinase (PRKA) anchor protein 13 [HGNC:AKAP13] (18) |
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ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) [HGNC:ARFGEF2] (8) |
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ezrin [HGNC:EZR] (32) |
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neurobeachin [HGNC:NBEA] (10) |
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aldehyde dehydrogenase 04 family, member A1 [HGNC:ALDH4A1] (17) |
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aspartyl-tRNA synthetase 2, mitochondrial [HGNC:DARS2] (8) |
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euchromatic histone-lysine N-methyltransferase 1 [HGNC:EHMT1] (11) |
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glutaminase [HGNC:GLS] (38) |
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notch 3 [HGNC:NOTCH3] (19) |
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nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 [HGNC:NFKB1] (254) |
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nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha [HGNC:NFKBIA] (290) |
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protein phosphatase 1, regulatory subunit 13 like [HGNC:PPP1R13L] (7) |
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argonaute RISC catalytic component 2 [HGNC:AGO2] (23) |
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catenin (cadherin-associated protein), delta 2 [HGNC:CTNND2] (18) |
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junction plakoglobin [HGNC:JUP] (20) |
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galactosamine (N-acetyl)-6-sulfate sulfatase [HGNC:GALNS] (5) |
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ataxin 01 [HGNC:ATXN1] (21) |
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origin recognition complex, subunit 1 [HGNC:ORC1] (20) |
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proteasome (prosome, macropain) 26S subunit, ATPase, 3 [HGNC:PSMC3] (15) |
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ATPase, aminophospholipid transporter, class I, type 8B, member 1 [HGNC:ATP8B1] (25) |
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ATPase, Ca++ transporting, type 2C, member 1 [HGNC:ATP2C1] (6) |
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ATP-binding cassette, sub-family C (CFTR/MRP), member 5 [HGNC:ABCC5] (40) |
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ATP-binding cassette, sub-family D (ALD), member 3 [HGNC:ABCD3] (20) |
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ATP-binding cassette, sub-family G (WHITE), member 1 [HGNC:ABCG1] (40) |
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hairy and enhancer of split 1 (Drosophila) [HGNC:HES1] (41) |
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inhibitor of DNA binding 3, dominant negative helix-loop-helix protein [HGNC:ID3] (47) |
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MAX interactor 1, dimerization protein [HGNC:MXI1] (19) |
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MYC associated factor X [HGNC:MAX] (14) |
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nuclear receptor coactivator 1 [HGNC:NCOA1] (71) |
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nuclear receptor coactivator 2 [HGNC:NCOA2] (50) |
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nuclear receptor coactivator 3 [HGNC:NCOA3] (42) |
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twist basic helix-loop-helix transcription factor 1 [HGNC:TWIST1] (19) |
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v-myc avian myelocytomatosis viral oncogene homolog [HGNC:MYC] (254) |
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CCAAT/enhancer binding protein (C/EBP), delta [HGNC:CEBPD] (51) |
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FBJ murine osteosarcoma viral oncogene homolog [HGNC:FOS] (277) |
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jun B proto-oncogene [HGNC:JUNB] (59) |
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jun proto-oncogene [HGNC:JUN] (290) |
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CD0055 molecule, decay accelerating factor for complement (Cromer blood group) [HGNC:CD55] (38) |
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influenza virus NS1A binding protein [HGNC:IVNS1ABP] (12) |
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kelch-like family member 5 [HGNC:KLHL5] (13) |
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regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 [HGNC:RCBTB1] (11) |
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tumor necrosis factor, alpha-induced protein 1 (endothelial) [HGNC:TNFAIP1] (5) |
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cadherin, EGF LAG seven-pass G-type receptor 2 [HGNC:CELSR2] (15) |
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desmocollin 2 [HGNC:DSC2] (16) |
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ret proto-oncogene [HGNC:RET] (37) |
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S100 calcium binding protein A06 [HGNC:S100A6] (33) |
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S100 calcium binding protein A10 [HGNC:S100A10] (31) |
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cathepsin B [HGNC:CTSB] (48) |
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cathepsin C [HGNC:CTSC] (19) |
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cathepsin H [HGNC:CTSH] (25) |
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5'-nucleotidase, ecto (CD73) [HGNC:NT5E] (24) |
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atypical chemokine receptor 3 [HGNC:ACKR3] (35) |
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CD055 molecule, decay accelerating factor for complement (Cromer blood group) [HGNC:CD55] (38) |
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CD320 molecule [HGNC:CD320] (5) |
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fibroblast growth factor receptor 1 [HGNC:FGFR1] (43) |
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hyaluronan-mediated motility receptor (RHAMM) [HGNC:HMMR] (41) |
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integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) [HGNC:ITGA2] (42) |
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interleukin 01 receptor, type I [HGNC:IL1R1] (52) |
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interleukin 06 signal transducer (gp130, oncostatin M receptor) [HGNC:IL6ST] (38) |
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L1 cell adhesion molecule [HGNC:L1CAM] (22) |
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leptin receptor [HGNC:LEPR] (17) |
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melanoma cell adhesion molecule [HGNC:MCAM] (21) |
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solute carrier family 07 (amino acid transporter light chain, L system), member 05 [HGNC:SLC7A5] (51) |
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transferrin receptor (p90, CD71) [HGNC:TFRC] (84) |
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tumor necrosis factor receptor superfamily, member 12A [HGNC:TNFRSF12A] (39) |
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tumor necrosis factor receptor superfamily, member 21 [HGNC:TNFRSF21] (36) |
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v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 [HGNC:ERBB2] (109) |
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atypical chemokine receptor 3 [HGNC:ACKR3] (35) |
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cholinergic receptor, nicotinic, alpha 5 (neuronal) [HGNC:CHRNA5] (22) |
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claudin 01 [HGNC:CLDN1] (34) |
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claudin 04 [HGNC:CLDN4] (30) |
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collagen, type XXI, alpha 1 [HGNC:COL21A1] (8) |
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component of oligomeric golgi complex 4 [HGNC:COG4] (7) |
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component of oligomeric golgi complex 5 [HGNC:COG5] (10) |
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coronin, actin binding protein, 1C [HGNC:CORO1C] (15) |
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cyclin-dependent kinase 01 [HGNC:CDK1] (151) |
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cyclin-dependent kinase-like 05 [HGNC:CDKL5] (7) |
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cytochrome P450, family 01, subfamily B, polypeptide 01 [HGNC:CYP1B1] (301) |
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DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 [HGNC:DDX11] (9) |
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polymerase (DNA directed), delta 1, catalytic subunit [HGNC:POLD1] (16) |
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polymerase (DNA directed), epsilon, catalytic subunit [HGNC:POLE] (9) |
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polymerase (DNA-directed), delta 3, accessory subunit [HGNC:POLD3] (16) |
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EF-hand domain family, member D1 [HGNC:EFHD1] (13) |
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glycerol-3-phosphate dehydrogenase 2 (mitochondrial) [HGNC:GPD2] (7) |
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RAS guanyl releasing protein 1 (calcium and DAG-regulated) [HGNC:RASGRP1] (27) |
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S100 calcium binding protein A06 [HGNC:S100A6] (33) |
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chemokine (C-X-C motif) ligand 12 [HGNC:CXCL12] (70) |
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endothelin 1 [HGNC:EDN1] (119) |
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galanin/GMAP prepropeptide [HGNC:GAL] (26) |
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ephrin-A1 [HGNC:EFNA1] (32) |
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ephrin-B2 [HGNC:EFNB2] (32) |
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exostosin glycosyltransferase 1 [HGNC:EXT1] (18) |
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Fanconi anemia, complementation group A [HGNC:FANCA] (18) |
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Fanconi anemia, complementation group D2 [HGNC:FANCD2] (20) |
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Fanconi anemia, complementation group G [HGNC:FANCG] (25) |
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Fanconi anemia, complementation group I [HGNC:FANCI] (28) |
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Fanconi anemia, complementation group L [HGNC:FANCL] (21) |
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RAD51 paralog C [HGNC:RAD51C] (30) |
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fatty acid binding protein 5 (psoriasis-associated) [HGNC:FABP5] (29) |
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fatty acid desaturase 1 [HGNC:FADS1] (31) |
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stearoyl-CoA desaturase (delta-9-desaturase) [HGNC:SCD] (78) |
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fibronectin type III domain containing 3B [HGNC:FNDC3B] (15) |
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interleukin 06 signal transducer (gp130, oncostatin M receptor) [HGNC:IL6ST] (38) |
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L1 cell adhesion molecule [HGNC:L1CAM] (22) |
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neuronal cell adhesion molecule [HGNC:NRCAM] (17) |
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protein tyrosine phosphatase, receptor type, F [HGNC:PTPRF] (20) |
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protein tyrosine phosphatase, receptor type, K [HGNC:PTPRK] (24) |
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EGF containing fibulin-like extracellular matrix protein 1 [HGNC:EFEMP1] (24) |
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S-phase kinase-associated protein 2, E3 ubiquitin protein ligase [HGNC:SKP2] (54) |
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forkhead box M1 [HGNC:FOXM1] (33) |
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forkhead box P2 [HGNC:FOXP2] (12) |
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frizzled family receptor 2 [HGNC:FZD2] (22) |
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GATA binding protein 2 [HGNC:GATA2] (33) |
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GATA binding protein 3 [HGNC:GATA3] (24) |
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RNA binding motif protein 10 [HGNC:RBM10] (6) |
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cadherin, EGF LAG seven-pass G-type receptor 2 [HGNC:CELSR2] (15) |
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heat shock 70kDa protein 09 (mortalin) [HGNC:HSPA9] (40) |
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spastic ataxia of Charlevoix-Saguenay (sacsin) [HGNC:SACS] (19) |
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heat shock protein 90kDa beta (Grp94), member 1 [HGNC:HSP90B1] (53) |
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high mobility group AT-hook 1 [HGNC:HMGA1] (34) |
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high mobility group box 1 [HGNC:HMGB1] (48) |
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high mobility group box 2 [HGNC:HMGB2] (37) |
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H2A histone family, member X [HGNC:H2AFX] (129) |
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H3 histone, family 3B (H3.3B) [HGNC:H3F3B] (13) |
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histone cluster 1, H1c [HGNC:HIST1H1C] (40) |
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histone cluster 1, H2bc [HGNC:HIST1H2BC] (14) |
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histone cluster 1, H2bk [HGNC:HIST1H2BK] (21) |
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distal-less homeobox 2 [HGNC:DLX2] (23) |
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msh homeobox 2 [HGNC:MSX2] (11) |
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SATB homeobox 2 [HGNC:SATB2] (14) |
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LIM homeobox 2 [HGNC:LHX2] (9) |
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pre-B-cell leukemia homeobox 1 [HGNC:PBX1] (24) |
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TGFB-induced factor homeobox 1 [HGNC:TGIF1] (37) |
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melanoma cell adhesion molecule [HGNC:MCAM] (21) |
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MHC class I polypeptide-related sequence B [HGNC:MICB] (14) |
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melanoma cell adhesion molecule [HGNC:MCAM] (21) |
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fibroblast growth factor receptor 1 [HGNC:FGFR1] (43) |
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interleukin 01 receptor, type I [HGNC:IL1R1] (52) |
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L1 cell adhesion molecule [HGNC:L1CAM] (22) |
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neuronal cell adhesion molecule [HGNC:NRCAM] (17) |
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obscurin-like 1 [HGNC:OBSL1] (12) |
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protein tyrosine phosphatase, receptor type, F [HGNC:PTPRF] (20) |
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sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C [HGNC:SEMA3C] (20) |
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interleukin 01 receptor, type I [HGNC:IL1R1] (52) |
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leptin receptor [HGNC:LEPR] (17) |
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melanoma cell adhesion molecule [HGNC:MCAM] (21) |
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neuronal cell adhesion molecule [HGNC:NRCAM] (17) |
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obscurin-like 1 [HGNC:OBSL1] (12) |
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protein tyrosine phosphatase, receptor type, K [HGNC:PTPRK] (24) |
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importin 11 [HGNC:IPO11] (11) |
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integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) [HGNC:ITGA2] (42) |
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interleukin 01 receptor, type I [HGNC:IL1R1] (52) |
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interleukin 02 [HGNC:IL2] (144) |
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interleukin 06 signal transducer (gp130, oncostatin M receptor) [HGNC:IL6ST] (38) |
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interleukin 20 [HGNC:IL20] (3) |
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lamin B1 [HGNC:LMNB1] (50) |
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lamin B2 [HGNC:LMNB2] (17) |
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intraflagellar transport 122 homolog (Chlamydomonas) [HGNC:IFT122] (8) |
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inositol 1,4,5-trisphosphate receptor, type 1 [HGNC:ITPR1] (44) |
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K(lysine) acetyltransferase 6A [HGNC:KAT6A] (6) |
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nuclear receptor coactivator 1 [HGNC:NCOA1] (71) |
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nuclear receptor coactivator 2 [HGNC:NCOA2] (50) |
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nuclear receptor coactivator 3 [HGNC:NCOA3] (42) |
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lysine (K)-specific demethylase 1A [HGNC:KDM1A] (15) |
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enhancer of zeste homolog 2 (Drosophila) [HGNC:EZH2] (32) |
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euchromatic histone-lysine N-methyltransferase 1 [HGNC:EHMT1] (11) |
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lysine (K)-specific methyltransferase 2D [HGNC:KMT2D] (5) |
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lysine (K)-specific methyltransferase 2E [HGNC:KMT2E] (7) |
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influenza virus NS1A binding protein [HGNC:IVNS1ABP] (12) |
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kelch-like family member 5 [HGNC:KLHL5] (13) |
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kinesin family member 05C [HGNC:KIF5C] (12) |
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kinesin family member 11 [HGNC:KIF11] (29) |
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Kruppel-like factor 04 (gut) [HGNC:KLF4] (49) |
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Kruppel-like factor 06 [HGNC:KLF6] (56) |
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Kruppel-like factor 12 [HGNC:KLF12] (12) |
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lectin, galactoside-binding, soluble, 1 [HGNC:LGALS1] (53) |
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MAX interactor 1, dimerization protein [HGNC:MXI1] (19) |
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NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) [HGNC:NDUFS8] (12) |
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NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa [HGNC:NDUFV1] (12) |
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mitochondrial ribosomal protein S06 [HGNC:MRPS6] (22) |
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myocyte enhancer factor 2A [HGNC:MEF2A] (19) |
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myosin IB [HGNC:MYO1B] (20) |
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myosin, heavy chain 14, non-muscle [HGNC:MYH14] (6) |
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myosin VA (heavy chain 12, myoxin) [HGNC:MYO5A] (17) |
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myosin VB [HGNC:MYO5B] (10) |
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myosin VI [HGNC:MYO6] (20) |
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neuropeptide Y receptor Y1 [HGNC:NPY1R] (18) |
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estrogen receptor 1 [HGNC:ESR1] (506) |
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estrogen receptor 2 (ER beta) [HGNC:ESR2] (261) |
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nuclear receptor subfamily 2, group F, member 2 [HGNC:NR2F2] (22) |
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nuclear receptor subfamily 2, group F, member 6 [HGNC:NR2F6] (16) |
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nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) [HGNC:NR3C1] (138) |
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nuclear receptor subfamily 4, group A, member 2 [HGNC:NR4A2] (48) |
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progesterone receptor [HGNC:PGR] (209) |
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PTEN induced putative kinase 1 [HGNC:PINK1] (13) |
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parvin, alpha [HGNC:PARVA] (6) |
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Fanconi anemia, complementation group L [HGNC:FANCL] (21) |
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K(lysine) acetyltransferase 6A [HGNC:KAT6A] (6) |
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lysine (K)-specific methyltransferase 2D [HGNC:KMT2D] (5) |
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lysine (K)-specific methyltransferase 2E [HGNC:KMT2E] (7) |
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transcription factor 19 [HGNC:TCF19] (22) |
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Wolf-Hirschhorn syndrome candidate 1 [HGNC:WHSC1] (17) |
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A kinase (PRKA) anchor protein 13 [HGNC:AKAP13] (18) |
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insulin receptor substrate 1 [HGNC:IRS1] (47) |
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insulin receptor substrate 2 [HGNC:IRS2] (29) |
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pleckstrin and Sec7 domain containing 3 [HGNC:PSD3] (21) |
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pleckstrin homology-like domain, family A, member 2 [HGNC:PHLDA2] (42) |
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RAS p21 protein activator (GTPase activating protein) 1 [HGNC:RASA1] (18) |
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Rho-associated, coiled-coil containing protein kinase 2 [HGNC:ROCK2] (16) |
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TRIO and F-actin binding protein [HGNC:TRIOBP] (16) |
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poly (ADP-ribose) polymerase 2 [HGNC:PARP2] (17) |
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potassium channel, subfamily K, member 05 [HGNC:KCNK5] (13) |
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coagulation factor II (thrombin) receptor [HGNC:F2R] (49) |
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coagulation factor II (thrombin) receptor-like 1 [HGNC:F2RL1] (38) |
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proteasome (prosome, macropain) 26S subunit, ATPase, 3 [HGNC:PSMC3] (15) |
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proteasome (prosome, macropain) activator subunit 2 (PA28 beta) [HGNC:PSME2] (7) |
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PSMC3 interacting protein [HGNC:PSMC3IP] (16) |
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anterior gradient 2 [HGNC:AGR2] (37) |
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prolyl 4-hydroxylase, beta polypeptide [HGNC:P4HB] (28) |
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protein disulfide isomerase family A, member 3 [HGNC:PDIA3] (29) |
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aurora kinase A [HGNC:AURKA] (52) |
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aurora kinase B [HGNC:AURKB] (47) |
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cancer susceptibility candidate 5 [HGNC:CASC5] (15) |
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protein phosphatase 2, regulatory subunit B, alpha [HGNC:PPP2R2A] (14) |
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protein phosphatase, Mg2+/Mn2+ dependent, 1E [HGNC:PPM1E] (6) |
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pyruvate dehyrogenase phosphatase catalytic subunit 1 [HGNC:PDP1] (19) |
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protein tyrosine phosphatase, non-receptor type 01 [HGNC:PTPN1] (22) |
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protein tyrosine phosphatase, receptor type, F [HGNC:PTPRF] (20) |
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protein tyrosine phosphatase, receptor type, K [HGNC:PTPRK] (24) |
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phosphatase and tensin homolog [HGNC:PTEN] (91) |
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dual specificity phosphatase 01 [HGNC:DUSP1] (91) |
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dual specificity phosphatase 10 [HGNC:DUSP10] (34) |
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protocadherin 10 [HGNC:PCDH10] (7) |
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RAB08A, member RAS oncogene family [HGNC:RAB8A] (13) |
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RAB32, member RAS oncogene family [HGNC:RAB32] (16) |
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regulator of G-protein signaling 02, 24kDa [HGNC:RGS2] (44) |
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chimerin 1 [HGNC:CHN1] (11) |
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A kinase (PRKA) anchor protein 13 [HGNC:AKAP13] (18) |
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amyotrophic lateral sclerosis 2 (juvenile) [HGNC:ALS2] (13) |
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Aly/REF export factor [HGNC:ALYREF] (3) |
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heterogeneous nuclear ribonucleoprotein H1 (H) [HGNC:HNRNPH1] (24) |
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polypyrimidine tract binding protein 1 [HGNC:PTBP1] (13) |
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RNA binding motif protein 10 [HGNC:RBM10] (6) |
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RNA binding protein, fox-1 homolog (C. elegans) 2 [HGNC:RBFOX2] (11) |
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serine/arginine-rich splicing factor 10 [HGNC:SRSF10] (12) |
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ribosomal protein L31 [HGNC:RPL31] (16) |
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sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C [HGNC:SEMA3C] (20) |
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serine/arginine-rich splicing factor 10 [HGNC:SRSF10] (12) |
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protease, serine, 08 [HGNC:PRSS8] (16) |
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transmembrane protease, serine 03 [HGNC:TMPRSS3] (12) |
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B-cell linker [HGNC:BLNK] (15) |
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breast cancer anti-estrogen resistance 3 [HGNC:BCAR3] (25) |
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chimerin 1 [HGNC:CHN1] (11) |
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RAS p21 protein activator (GTPase activating protein) 1 [HGNC:RASA1] (18) |
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signal transducer and activator of transcription 3 (acute-phase response factor) [HGNC:STAT3] (145) |
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suppressor of cytokine signaling 2 [HGNC:SOCS2] (31) |
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v-yes-1 Yamaguchi sarcoma viral related oncogene homolog [HGNC:LYN] (39) |
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hydroxysteroid (17-beta) dehydrogenase 06 [HGNC:HSD17B6] (15) |
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SKI-like oncogene [HGNC:SKIL] (15) |
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SMAD family member 2 [HGNC:SMAD2] (33) |
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SMAD family member 3 [HGNC:SMAD3] (40) |
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solute carrier family 05 (sodium/myo-inositol cotransporter), member 3 [HGNC:SLC5A3] (16) |
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solute carrier family 06 (amino acid transporter), member 14 [HGNC:SLC6A14] (18) |
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solute carrier family 07 (cationic amino acid transporter, y+ system), member 01 [HGNC:SLC7A1] (23) |
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solute carrier family 07 (amino acid transporter light chain, L system), member 05 [HGNC:SLC7A5] (51) |
|
|
solute carrier family 07 (anionic amino acid transporter light chain, xc- system), member 11 [HGNC:SLC7A11] (77) |
|
|
solute carrier family 12 (sodium/potassium/chloride transporter), member 2 [HGNC:SLC12A2] (26) |
|
|
solute carrier family 17 (acidic sugar transporter), member 5 [HGNC:SLC17A5] (15) |
|
|
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 [HGNC:SLC25A15] (13) |
|
|
solute carrier family 25 (mitochondrial iron transporter), member 37 [HGNC:SLC25A37] (15) |
|
|
solute carrier family 26 (anion exchanger), member 2 [HGNC:SLC26A2] (24) |
|
|
solute carrier family 29 (equilibrative nucleoside transporter), member 1 [HGNC:SLC29A1] (34) |
|
|
solute carrier family 30 (zinc transporter), member 1 [HGNC:SLC30A1] (46) |
|
|
solute carrier family 31 (copper transporter), member 1 [HGNC:SLC31A1] (35) |
|
|
solute carrier family 37 (glucose-6-phosphate transporter), member 4 [HGNC:SLC37A4] (15) |
|
|
solute carrier family 39 (zinc transporter), member 04 [HGNC:SLC39A4] (17) |
|
|
SRY (sex determining region Y)-box 03 [HGNC:SOX3] (8) |
|
|
SRY (sex determining region Y)-box 04 [HGNC:SOX4] (39) |
|
|
SRY (sex determining region Y)-box 09 [HGNC:SOX9] (39) |
|
|
sterile alpha motif domain containing 4A [HGNC:SAMD4A] (17) |
|
|
structural maintenance of chromosomes 1A [HGNC:SMC1A] (20) |
|
|
structural maintenance of chromosomes 2 [HGNC:SMC2] (25) |
|
|
sulfotransferase family, cytosolic, 2B, member 1 [HGNC:SULT2B1] (10) |
|
|
suppressor of cytokine signaling 2 [HGNC:SOCS2] (31) |
|
|
FK506 binding protein 05 [HGNC:FKBP5] (46) |
|
|
FK506 binding protein like [HGNC:FKBPL] (9) |
|
|
G-protein signaling modulator 2 [HGNC:GPSM2] (27) |
|
|
interferon-induced protein with tetratricopeptide repeats 2 [HGNC:IFIT2] (31) |
|
|
nephronophthisis 3 (adolescent) [HGNC:NPHP3] (4) |
|
|
tetratricopeptide repeat domain 09 [HGNC:TTC9] (10) |
|
|
Aly/REF export factor [HGNC:ALYREF] (3) |
|
|
trafficking protein particle complex 02 [HGNC:TRAPPC2] (3) |
|
|
tropomyosin 1 (alpha) [HGNC:TPM1] (32) |
|
|
tubulin, beta 2A class IIa [HGNC:TUBB2A] (21) |
|
|
tubulin, gamma 1 [HGNC:TUBG1] (13) |
|
|
lamin B receptor [HGNC:LBR] (14) |
|
|
tumor necrosis factor receptor superfamily, member 12A [HGNC:TNFRSF12A] (39) |
|
|
tumor necrosis factor receptor superfamily, member 21 [HGNC:TNFRSF21] (36) |
|
|
ubiquitin-conjugating enzyme E2H [HGNC:UBE2H] (17) |
|
|
ubiquitin-conjugating enzyme E2N [HGNC:UBE2N] (11) |
|
|
UDP glucuronosyltransferase 1 family, polypeptide A1 [HGNC:UGT1A1] (167) |
|
|
UDP glucuronosyltransferase 1 family, polypeptide A9 [HGNC:UGT1A9] (108) |
|
|
UDP glucuronosyltransferase 2 family, polypeptide B15 [HGNC:UGT2B15] (85) |
|
|
oxytocin receptor [HGNC:OXTR] (19) |
|
|
voltage-dependent anion channel 1 [HGNC:VDAC1] (19) |
|
|
achalasia, adrenocortical insufficiency, alacrimia [HGNC:AAAS] (5) |
|
|
bromodomain and WD repeat domain containing 1 [HGNC:BRWD1] (7) |
|
|
chromatin assembly factor 1, subunit B (p60) [HGNC:CHAF1B] (16) |
|
|
coronin, actin binding protein, 1C [HGNC:CORO1C] (15) |
|
|
damage-specific DNA binding protein 2, 48kDa [HGNC:DDB2] (35) |
|
|
Dmx-like 1 [HGNC:DMXL1] (14) |
|
|
intraflagellar transport 122 homolog (Chlamydomonas) [HGNC:IFT122] (8) |
|
|
neurobeachin [HGNC:NBEA] (10) |
|
|
protein phosphatase 2, regulatory subunit B, alpha [HGNC:PPP2R2A] (14) |
|
|
PRP4 pre-mRNA processing factor 4 homolog (yeast) [HGNC:PRPF4] (9) |
|
|
transducin (beta)-like 1X-linked [HGNC:TBL1X] (19) |
|
|
WD repeat domain, phosphoinositide interacting 1 [HGNC:WIPI1] (42) |
|
|
|
|
|
early growth response 1 [HGNC:EGR1] (140) |
|
|
early growth response 3 [HGNC:EGR3] (37) |
|
|
Kruppel-like factor 04 (gut) [HGNC:KLF4] (49) |
|
|
Kruppel-like factor 06 [HGNC:KLF6] (56) |
|
|
Kruppel-like factor 12 [HGNC:KLF12] (12) |
|
|
MYC-associated zinc finger protein (purine-binding transcription factor) [HGNC:MAZ] (12) |
|
|
sal-like 4 (Drosophila) [HGNC:SALL4] (6) |
|
|
zinc finger protein 160 [HGNC:ZNF160] (5) |
|
|
|
|
|
zinc finger CCCH-type containing 12A [HGNC:ZC3H12A] (12) |
|
|
zinc finger, MIZ-type containing 1 [HGNC:ZMIZ1] (19) |
|
|
RNA binding motif protein 10 [HGNC:RBM10] (6) |
|
 |
2. Interaction: Human Genes and Chemicals |
 |
 |
|
2. Interaction: Human Genes and Chemicals |
|
|
binding (2423) |
|
|
cotreatment (1499) |
|
|
reaction (624) |
|
|
response to substance (623) |
|
|
expression (2187) |
|
|
reaction (3393) |
|
|
activity (2865) |
|
|
expression (3238) |
|
|
glucuronidation (189) |
|
|
reaction (1574) |
|
 |
A. Anatomy |
 |
 |
|
A. Anatomy |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Popliteal Pterygium Syndrome [MESH:C562509] (33) |
|
|
|
|
|
Meier-Gorlin syndrome [MESH:C538012] (133) |
|
|
Kabuki syndrome [MESH:C537705] (9) |
|
|
|
|
|
Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42) |
|
|
|
|
|
Van der Woude syndrome [MESH:C536528] (33) |
|
|
|
|
|
|
|
|
Cranioectodermal Dysplasia [MESH:C562966] (16) |
|
|
|
|
|
|
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
Epiphyseal dysplasia, multiple, 4 [MESH:C535504] (34) |
|
|
Meier-Gorlin syndrome [MESH:C538012] (133) |
|
|
|
|
|
|
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
Craniosynostosis radial aplasia syndrome [MESH:C536788] (30) |
|
|
Wolcott-Rallison syndrome [MESH:C536739] (92) |
|
|
VACTERL hydrocephaly [MESH:C536521] (151) |
|
|
|
|
|
Popliteal Pterygium Syndrome [MESH:C562509] (33) |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
VACTERL hydrocephaly [MESH:C536521] (151) |
|
|
|
|
|
|
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
VACTERL hydrocephaly [MESH:C536521] (151) |
|
|
|
|
|
VACTERL hydrocephaly [MESH:C536521] (151) |
|
|
|
|
|
VACTERL hydrocephaly [MESH:C536521] (151) |
|
|
|
|
|
|
|
|
|
|
|
Sudden Infant Death with Dysgenesis of the Testes Syndrome [MESH:C563856] (16) |
|
|
|
|
|
Sudden Infant Death with Dysgenesis of the Testes Syndrome [MESH:C563856] (16) |
|
|
|
|
|
Hereditary renal agenesis [MESH:C536482] (89) |
|
|
VACTERL hydrocephaly [MESH:C536521] (151) |
|
|
|
|
|
|
|
|
|
|
|
Sudden Infant Death with Dysgenesis of the Testes Syndrome [MESH:C563856] (16) |
|
|
|
|
|
|
|
|
|
|
|
Capillary Malformation-Arteriovenous Malformation [MESH:C564254] (50) |
|
|
|
|
|
Hydrolethalus Syndrome 1 [MESH:C565504] (14) |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Hydrocephalus, X-linked [MESH:C536078] (37) |
|
|
|
|
|
Hydrocephalus, X-linked [MESH:C536078] (37) |
|
|
|
|
|
|
|
|
Hydrocephalus, X-linked [MESH:C536078] (37) |
|
|
|
|
|
Meier-Gorlin syndrome [MESH:C538012] (133) |
|
|
|
|
|
Peters anomaly [MESH:C537884] (465) |
|
|
Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42) |
|
|
|
|
|
|
|
|
Cranioectodermal Dysplasia [MESH:C562966] (16) |
|
|
|
|
|
|
|
|
|
|
|
Microvillus inclusion disease [MESH:C537470] (28) |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Chromosome 3, monosomy 3p25 [MESH:C536807] (76) |
|
|
|
|
|
Kleefstra Syndrome [MESH:C563043] (25) |
|
|
|
|
|
|
|
|
Van der Woude syndrome [MESH:C536528] (33) |
|
 |
C01. Bacterial Infections and Mycoses |
 |
 |
|
C01. Bacterial Infections and Mycoses |
|
|
|
|
|
Helicobacter Infections [MESH:D016481] (579) |
|
|
Chlamydia Infections [MESH:D002690] (1696) |
|
|
Mycoplasma Infections [MESH:D009175] (1947) |
|
|
Listeriosis [MESH:D008088] (1622) |
|
|
|
|
|
Leprosy [MESH:D007918] (261) |
|
|
Chlamydia Infections [MESH:D002690] (1693) |
|
|
Arthritis, Infectious [MESH:D001170] (1702) |
|
|
Respiratory Tract Infections [MESH:D012141] (199) |
|
|
Peritonitis [MESH:D010538] (800) |
|
|
|
|
|
AIDS-related Kaposi sarcoma [MESH:C554498] (914) |
|
|
Shock, Septic [MESH:D012772] (1830) |
|
|
Endotoxemia [MESH:D019446] (1289) |
|
|
|
|
|
Chlamydia Infections [MESH:D002690] (1693) |
|
|
Endotoxemia [MESH:D019446] (1289) |
|
 |
C02. Virus Diseases |
 |
 |
|
C02. Virus Diseases |
|
|
|
|
|
|
|
|
Severe Dengue [MESH:D019595] (51) |
|
|
|
|
|
Meningitis, Aseptic [MESH:D008582] (1305) |
|
|
|
|
|
|
|
|
Burkitt Lymphoma [MESH:D002051] (691) |
|
|
AIDS-related Kaposi sarcoma [MESH:C554498] (914) |
|
|
Hepatitis C [MESH:D006526] (1627) |
|
|
Meningitis, Aseptic [MESH:D008582] (1305) |
|
|
|
|
|
AIDS-related Kaposi sarcoma [MESH:C554498] (914) |
|
|
Arenaviridae Infections [MESH:D001117] (204) |
|
|
Hepatitis C [MESH:D006526] (1627) |
|
|
|
|
|
Severe Dengue [MESH:D019595] (51) |
|
|
|
|
|
Severe Dengue [MESH:D019595] (51) |
|
|
Influenza, Human [MESH:D007251] (1075) |
|
|
Cardiovirus Infections [MESH:D018188] (1548) |
|
|
|
|
|
|
|
|
Acquired Immunodeficiency Syndrome [MESH:D000163] (743) |
|
|
HIV Wasting Syndrome [MESH:D019247] (1956) |
|
|
AIDS-related Kaposi sarcoma [MESH:C554498] (914) |
|
|
|
|
|
|
|
|
Acquired Immunodeficiency Syndrome [MESH:D000163] (743) |
|
|
HIV Wasting Syndrome [MESH:D019247] (1956) |
|
|
Acquired Immunodeficiency Syndrome [MESH:D000163] (743) |
|
|
|
|
|
Burkitt Lymphoma [MESH:D002051] (691) |
|
 |
C03. Parasitic Diseases |
 |
 |
|
C03. Parasitic Diseases |
|
|
Liver Diseases, Parasitic [MESH:D008109] (1009) |
|
|
|
|
|
AIDS-related Kaposi sarcoma [MESH:C554498] (914) |
|
|
Malaria [MESH:D008288] (2175) |
|
|
Entamoebiasis [MESH:D004749] (1689) |
|
|
|
|
|
Leishmaniasis, Cutaneous [MESH:D016773] (2359) |
|
|
Leishmaniasis, Visceral [MESH:D007898] (2149) |
|
|
|
|
|
Leishmaniasis, Cutaneous [MESH:D016773] (2359) |
|
 |
C04. Neoplasms |
 |
 |
|
C04. Neoplasms |
|
|
|
|
|
Van der Woude syndrome [MESH:C536528] (33) |
|
|
Follicular Cyst [MESH:D005497] (151) |
|
|
Chudley-Mccullough syndrome [MESH:C535459] (45) |
|
|
Polycystic Ovary Syndrome [MESH:D011085] (2186) |
|
|
Renal hepatic pancreatic dysplasia Dandy Walker cyst [MESH:C537756] (11) |
|
|
Tuberous Sclerosis [MESH:D014402] (635) |
|
|
Proteus Syndrome [MESH:D016715] (152) |
|
|
|
|
|
|
|
|
Leukemia, T-Cell [MESH:D015458] (395) |
|
|
Leukemia, Lymphocytic, Chronic, B-Cell [MESH:D015451] (2562) |
|
|
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D015452] (354) |
|
|
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054218] (510) |
|
|
Leukemia, Myelogenous, Chronic, BCR-ABL Positive [MESH:D015464] (1032) |
|
|
Leukemia, Myelomonocytic, Acute [MESH:D015479] (85) |
|
|
Leukemia, Erythroblastic, Acute [MESH:D004915] (89) |
|
|
Leukemia, Megakaryoblastic, Acute [MESH:D007947] (279) |
|
|
Leukemia, Promyelocytic, Acute [MESH:D015473] (1367) |
|
|
|
|
|
Lymphangioleiomyomatosis [MESH:D018192] (162) |
|
|
Hodgkin Disease [MESH:D006689] (1082) |
|
|
Burkitt Lymphoma [MESH:D002051] (691) |
|
|
Lymphoma, Follicular [MESH:D008224] (1025) |
|
|
Lymphoma, Large-Cell, Anaplastic [MESH:D017728] (420) |
|
|
Burkitt Lymphoma [MESH:D002051] (691) |
|
|
Lymphoma, Large B-Cell, Diffuse [MESH:D016403] (2012) |
|
|
Lymphoma, Extranodal NK-T-Cell [MESH:D054391] (132) |
|
|
Lymphoma, Large-Cell, Anaplastic [MESH:D017728] (420) |
|
|
Hepatoblastoma [MESH:D018197] (548) |
|
|
Wilms Tumor [MESH:D009396] (553) |
|
|
Pleuropulmonary blastoma [MESH:C537516] (37) |
|
|
|
|
|
Lipoma [MESH:D008067] (159) |
|
|
Gastrointestinal Stromal Tumors [MESH:D046152] (170) |
|
|
Sarcoma, Synovial [MESH:D013584] (993) |
|
|
Chondrosarcoma, Mesenchymal [MESH:D018211] (1161) |
|
|
Osteosarcoma [MESH:D012516] (2175) |
|
|
|
|
|
Exostoses, Multiple Hereditary [MESH:D005097] (154) |
|
|
|
|
|
Fibromatosis, Aggressive [MESH:D018222] (1562) |
|
|
Leiomyosarcoma [MESH:D007890] (977) |
|
|
|
|
|
Reed's syndrome [MESH:C535516] (27) |
|
|
|
|
|
Rhabdomyosarcoma, Embryonal [MESH:D018233] (98) |
|
|
Lymphangioleiomyomatosis [MESH:D018192] (162) |
|
|
Hemangiosarcoma [MESH:D006394] (1836) |
|
|
Leiomyosarcoma [MESH:D007890] (977) |
|
|
Osteosarcoma [MESH:D012516] (2175) |
|
|
Sarcoma, Synovial [MESH:D013584] (993) |
|
|
Chondrosarcoma, Mesenchymal [MESH:D018211] (1161) |
|
|
|
|
|
Rhabdomyosarcoma, Embryonal [MESH:D018233] (98) |
|
|
AIDS-related Kaposi sarcoma [MESH:C554498] (914) |
|
|
|
|
|
|
|
|
|
|
|
Gliosarcoma [MESH:D018316] (880) |
|
|
Medulloblastoma [MESH:D008527] (1282) |
|
|
Oligodendroglioma [MESH:D009837] (241) |
|
|
Glioblastoma [MESH:D005909] (2554) |
|
|
Medulloblastoma [MESH:D008527] (1282) |
|
|
Neuroblastoma [MESH:D009447] (1420) |
|
|
|
|
|
|
|
|
Familial medullary thyroid carcinoma [MESH:C536911] (101) |
|
|
Uveal melanoma [MESH:C536494] (109) |
|
|
Pheochromocytoma [MESH:D010673] (275) |
|
|
Glomus vagale tumors [MESH:C536827] (13) |
|
|
|
|
|
Growth Hormone-Secreting Pituitary Adenoma [MESH:D049912] (383) |
|
|
Mesothelioma [MESH:D008654] (2567) |
|
|
Prolactinoma [MESH:D015175] (312) |
|
|
Oncocytoma, renal [MESH:C537750] (35) |
|
|
Pancreatic cancer, adult [MESH:C535836] (572) |
|
|
Keratoacanthoma familial [MESH:C536150] (78) |
|
|
Carcinoma, Basal Cell [MESH:D002280] (1628) |
|
|
Carcinoma, Small Cell [MESH:D018288] (1317) |
|
|
Carcinoma, Transitional Cell [MESH:D002295] (2662) |
|
|
Adenocarcinoma of lung [MESH:C538231] (1487) |
|
|
Adenocarcinoma Of Esophagus [MESH:C562730] (1530) |
|
|
Adenocarcinoma, Clear Cell [MESH:D018262] (1291) |
|
|
Carcinoma, Adenoid Cystic [MESH:D003528] (1561) |
|
|
Carcinoma, Hepatocellular [MESH:D006528] (5375) |
|
|
Carcinoma, Renal Cell [MESH:D002292] (2975) |
|
|
Cholangiocarcinoma [MESH:D018281] (2398) |
|
|
Thyroid cancer, follicular [MESH:C572845] (674) |
|
|
Carcinoma, Ductal, Breast [MESH:D018270] (1112) |
|
|
Carcinoma, Pancreatic Ductal [MESH:D021441] (1056) |
|
|
|
|
|
Familial medullary thyroid carcinoma [MESH:C536911] (101) |
|
|
Prostatic Intraepithelial Neoplasia [MESH:D019048] (1565) |
|
|
Carcinoma, squamous cell of head and neck [MESH:C535575] (1543) |
|
|
Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396) |
|
|
Carcinoma, Basal Cell [MESH:D002280] (1628) |
|
|
|
|
|
Carcinoma, Ductal, Breast [MESH:D018270] (1112) |
|
|
Carcinoma, Pancreatic Ductal [MESH:D021441] (1056) |
|
|
Familial medullary thyroid carcinoma [MESH:C536911] (101) |
|
|
Mesothelioma [MESH:D008654] (2567) |
|
|
|
|
|
Gliosarcoma [MESH:D018316] (880) |
|
|
Medulloblastoma [MESH:D008527] (1282) |
|
|
Oligodendroglioma [MESH:D009837] (241) |
|
|
Glioblastoma [MESH:D005909] (2554) |
|
|
Medulloblastoma [MESH:D008527] (1282) |
|
|
Neuroblastoma [MESH:D009447] (1420) |
|
|
Papilloma [MESH:D010212] (2243) |
|
|
Carcinoma, squamous cell of head and neck [MESH:C535575] (1543) |
|
|
Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396) |
|
|
|
|
|
|
|
|
Leydig Cell Tumor [MESH:D007984] (267) |
|
|
|
|
|
Meningioma, familial [MESH:C537443] (195) |
|
|
|
|
|
|
|
|
Neurofibromatosis 1 [MESH:D009456] (117) |
|
|
|
|
|
|
|
|
Gliosarcoma [MESH:D018316] (880) |
|
|
Medulloblastoma [MESH:D008527] (1282) |
|
|
Oligodendroglioma [MESH:D009837] (241) |
|
|
Glioblastoma [MESH:D005909] (2554) |
|
|
Medulloblastoma [MESH:D008527] (1282) |
|
|
Neuroblastoma [MESH:D009447] (1420) |
|
|
|
|
|
|
|
|
Familial medullary thyroid carcinoma [MESH:C536911] (101) |
|
|
Uveal melanoma [MESH:C536494] (109) |
|
|
Pheochromocytoma [MESH:D010673] (275) |
|
|
Glomus vagale tumors [MESH:C536827] (13) |
|
|
Multiple Myeloma [MESH:D009101] (2767) |
|
|
Angiokeratoma [MESH:D000794] (54) |
|
|
Hemangiosarcoma [MESH:D006394] (1836) |
|
|
Glomus vagale tumors [MESH:C536827] (13) |
|
|
Sturge-Weber Syndrome [MESH:D013341] (76) |
|
|
Meningioma, familial [MESH:C537443] (195) |
|
|
AIDS-related Kaposi sarcoma [MESH:C554498] (914) |
|
|
|
|
|
Uveal melanoma [MESH:C536494] (109) |
|
|
Nevus, Sebaceous of Jadassohn [MESH:D054000] (209) |
|
|
Bone Neoplasms [MESH:D001859] (1334) |
|
|
Soft Tissue Neoplasms [MESH:D012983] (2003) |
|
|
Breast Neoplasms, Male [MESH:D018567] (650) |
|
|
Carcinoma, Ductal, Breast [MESH:D018270] (1112) |
|
|
Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143) |
|
|
|
|
|
Gallbladder Neoplasms [MESH:D005706] (993) |
|
|
Stomach Neoplasms [MESH:D013274] (4942) |
|
|
Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396) |
|
|
Adenocarcinoma Of Esophagus [MESH:C562730] (1530) |
|
|
Cecal Neoplasms [MESH:D002430] (822) |
|
|
Turcot syndrome [MESH:C536928] (159) |
|
|
Colonic Neoplasms [MESH:D003110] (4405) |
|
|
Rectal Neoplasms [MESH:D012004] (717) |
|
|
Lynch syndrome I (site-specific colonic cancer) [MESH:C537261] (130) |
|
|
Carcinoma, Hepatocellular [MESH:D006528] (5375) |
|
|
Liver Neoplasms, Experimental [MESH:D008114] (2837) |
|
|
Pancreatic cancer, adult [MESH:C535836] (572) |
|
|
Carcinoma, Pancreatic Ductal [MESH:D021441] (1056) |
|
|
|
|
|
Multiple Endocrine Neoplasia Type 2b [MESH:D018814] (75) |
|
|
Familial medullary thyroid carcinoma [MESH:C536911] (101) |
|
|
Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143) |
|
|
Pancreatic cancer, adult [MESH:C535836] (572) |
|
|
Carcinoma, Pancreatic Ductal [MESH:D021441] (1056) |
|
|
Growth Hormone-Secreting Pituitary Adenoma [MESH:D049912] (383) |
|
|
Prolactinoma [MESH:D015175] (312) |
|
|
|
|
|
Leydig Cell Tumor [MESH:D007984] (267) |
|
|
Familial medullary thyroid carcinoma [MESH:C536911] (101) |
|
|
Thyroid cancer, medullary [MESH:C536914] (74) |
|
|
|
|
|
Uveal melanoma [MESH:C536494] (109) |
|
|
Carcinoma, squamous cell of head and neck [MESH:C535575] (1543) |
|
|
Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396) |
|
|
Adenocarcinoma Of Esophagus [MESH:C562730] (1530) |
|
|
Salivary Gland Neoplasms [MESH:D012468] (968) |
|
|
Tongue Neoplasms [MESH:D014062] (1518) |
|
|
|
|
|
|
|
|
Nasopharyngeal carcinoma [MESH:C538339] (1198) |
|
|
Familial medullary thyroid carcinoma [MESH:C536911] (101) |
|
|
Thyroid cancer, medullary [MESH:C536914] (74) |
|
|
Mammary Neoplasms, Experimental [MESH:D008325] (3268) |
|
|
|
|
|
|
|
|
Turcot syndrome [MESH:C536928] (159) |
|
|
|
|
|
Pituitary Neoplasms [MESH:D010911] (914) |
|
|
|
|
|
Chudley-Mccullough syndrome [MESH:C535459] (45) |
|
|
|
|
|
Meningioma, familial [MESH:C537443] (195) |
|
|
Reed's syndrome [MESH:C535516] (27) |
|
|
Muir-Torre Syndrome [MESH:D055653] (102) |
|
|
|
|
|
|
|
|
Adenocarcinoma of lung [MESH:C538231] (1487) |
|
|
|
|
|
Carcinoma, Non-Small-Cell Lung [MESH:D002289] (3540) |
|
|
Small Cell Lung Carcinoma [MESH:D055752] (1380) |
|
|
Pleuropulmonary blastoma [MESH:C537516] (37) |
|
|
|
|
|
Vaginal Neoplasms [MESH:D014625] (363) |
|
|
Reed's syndrome [MESH:C535516] (27) |
|
|
Endometrial Neoplasms [MESH:D016889] (1987) |
|
|
Uterine Cervical Neoplasms [MESH:D002583] (978) |
|
|
Penile Neoplasms [MESH:D010412] (890) |
|
|
Prostate cancer, familial [MESH:C537243] (264) |
|
|
|
|
|
Leydig Cell Tumor [MESH:D007984] (267) |
|
|
Ureteral Neoplasms [MESH:D014516] (574) |
|
|
Urinary Bladder Neoplasms [MESH:D001749] (4079) |
|
|
Oncocytoma, renal [MESH:C537750] (35) |
|
|
Carcinoma, Renal Cell [MESH:D002292] (2975) |
|
|
Wilms Tumor [MESH:D009396] (553) |
|
|
Liver Neoplasms, Experimental [MESH:D008114] (2837) |
|
|
Mammary Neoplasms, Experimental [MESH:D008325] (3268) |
|
|
|
|
|
Burkitt Lymphoma [MESH:D002051] (691) |
|
|
Tuberous Sclerosis [MESH:D014402] (635) |
|
|
Proteus Syndrome [MESH:D016715] (152) |
|
|
Multiple Endocrine Neoplasia Type 2b [MESH:D018814] (75) |
|
|
Familial medullary thyroid carcinoma [MESH:C536911] (101) |
|
|
Neoplasm Invasiveness [MESH:D009361] (3388) |
|
|
Neoplasm Recurrence, Local [MESH:D009364] (1949) |
|
|
Neoplasm, Residual [MESH:D018365] (478) |
|
|
Cell Transformation, Neoplastic [MESH:D002471] (3389) |
|
|
Lymphatic Metastasis [MESH:D008207] (917) |
|
|
Turcot syndrome [MESH:C536928] (159) |
|
|
Meningioma, familial [MESH:C537443] (195) |
|
|
Juvenile polyposis syndrome [MESH:C537702] (196) |
|
|
Birt-Hogg-Dube Syndrome [MESH:D058249] (35) |
|
|
Exostoses, Multiple Hereditary [MESH:D005097] (154) |
|
|
Hamartoma Syndrome, Multiple [MESH:D006223] (260) |
|
|
Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143) |
|
|
Li-Fraumeni Syndrome [MESH:D016864] (859) |
|
|
Tuberous Sclerosis [MESH:D014402] (635) |
|
|
Wilms Tumor [MESH:D009396] (553) |
|
|
Lynch syndrome I (site-specific colonic cancer) [MESH:C537261] (130) |
|
|
Muir-Torre Syndrome [MESH:D055653] (102) |
|
|
Multiple Endocrine Neoplasia Type 2b [MESH:D018814] (75) |
|
|
Familial medullary thyroid carcinoma [MESH:C536911] (101) |
|
|
Neurofibromatosis 1 [MESH:D009456] (117) |
|
|
|
|
|
Xeroderma Pigmentosum, Complementation Group E [MESH:C564732] (38) |
|
|
|
|
|
Burkitt Lymphoma [MESH:D002051] (691) |
|
 |
C05. Musculoskeletal Diseases |
 |
 |
|
C05. Musculoskeletal Diseases |
|
|
|
|
|
Bone Neoplasms [MESH:D001859] (1334) |
|
|
Osteitis Deformans [MESH:D010001] (287) |
|
|
Acromicric dysplasia [MESH:C535662] (520) |
|
|
Proteus Syndrome [MESH:D016715] (152) |
|
|
Keratosis palmoplantaris with periodontopathia and onychogryposis [MESH:C537627] (73) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
Desbuquois syndrome [MESH:C535943] (20) |
|
|
Diastrophic dysplasia [MESH:C536170] (34) |
|
|
Seckel syndrome 1 [MESH:C537533] (63) |
|
|
Seckel syndrome 2 [MESH:C537534] (7) |
|
|
Microcephalic Osteodysplastic Primordial Dwarfism, Type II [MESH:C565898] (7) |
|
|
Three M Syndrome 2 [MESH:C567862] (22) |
|
|
Achondrogenesis type 1B [MESH:C536016] (34) |
|
|
|
|
|
|
|
|
Roberts Syndrome [MESH:C535687] (32) |
|
|
|
|
|
Craniosynostosis radial aplasia syndrome [MESH:C536788] (30) |
|
|
Jackson-Weiss syndrome [MESH:C537559] (149) |
|
|
Cranioectodermal Dysplasia [MESH:C562966] (16) |
|
|
Craniosynostosis, Type 2 [MESH:C565753] (36) |
|
|
Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149) |
|
|
Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42) |
|
|
Popliteal Pterygium Syndrome [MESH:C562509] (33) |
|
|
Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149) |
|
|
Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42) |
|
|
Atelosteogenesis type 2 [MESH:C535395] (34) |
|
|
Epiphyseal dysplasia, multiple, 4 [MESH:C535504] (34) |
|
|
Epiphyseal dysplasia, multiple, 5 [MESH:C535505] (18) |
|
|
Osteoglophonic dwarfism [MESH:C536050] (90) |
|
|
Wolcott-Rallison syndrome [MESH:C536739] (92) |
|
|
Spondyloepiphyseal Dysplasia Tarda, X-Linked [MESH:C562447] (13) |
|
|
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related [MESH:C563869] (18) |
|
|
Microcephalic Osteodysplastic Primordial Dwarfism, Type II [MESH:C565898] (7) |
|
|
Spondyloepimetaphyseal Dysplasia, Pakistani Type [MESH:C567551] (63) |
|
|
Fibrous Dysplasia of Bone [MESH:D005357] (737) |
|
|
Achondrogenesis type 1B [MESH:C536016] (34) |
|
|
Chondrodysplasia punctata 2, X-linked dominant [MESH:C538416] (61) |
|
|
Parietal Foramina With Cleidocranial Dysplasia [MESH:C566825] (36) |
|
|
|
|
|
Exostoses, Multiple Hereditary [MESH:D005097] (154) |
|
|
Bruck syndrome 2 [MESH:C537407] (64) |
|
|
Osteogenesis Imperfecta, Type IX [MESH:C564921] (46) |
|
|
|
|
|
Osteopetrosis with renal tubular acidosis [MESH:C536058] (130) |
|
|
Osteopetrosis, Autosomal Recessive 1 [MESH:C564915] (29) |
|
|
Osteopetrosis, Autosomal Recessive 5 [MESH:C566883] (16) |
|
|
|
|
|
Neuraminidase 1 deficiency [MESH:C537366] (31) |
|
|
Microvillus inclusion disease [MESH:C537470] (28) |
|
|
Osteoporosis, Postmenopausal [MESH:D015663] (2351) |
|
|
|
|
|
|
|
|
Vitamin D Hydroxylation-Deficient Rickets, Type 1B [MESH:C564005] (25) |
|
|
Alveolar Bone Loss [MESH:D016301] (220) |
|
|
|
|
|
Keratosis palmoplantaris with periodontopathia and onychogryposis [MESH:C537627] (73) |
|
|
|
|
|
Exostoses, Multiple Hereditary [MESH:D005097] (154) |
|
|
|
|
|
Kyphosis [MESH:D007738] (637) |
|
|
|
|
|
|
|
|
Arthritis, Psoriatic [MESH:D015535] (1859) |
|
|
Spondylitis, Ankylosing [MESH:D013167] (431) |
|
|
Keutel syndrome [MESH:C536167] (102) |
|
|
|
|
|
Jackson-Weiss syndrome [MESH:C537559] (149) |
|
|
TARP syndrome [MESH:C536942] (18) |
|
|
|
|
|
Oculootoradial syndrome [MESH:C535544] (14) |
|
|
Keutel syndrome [MESH:C536167] (102) |
|
|
|
|
|
|
|
|
Van der Woude syndrome [MESH:C536528] (33) |
|
|
Popliteal Pterygium Syndrome [MESH:C562509] (33) |
|
|
Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65) |
|
|
Meier-Gorlin syndrome [MESH:C538012] (133) |
|
|
TARP syndrome [MESH:C536942] (18) |
|
|
Calcification of Joints and Arteries [MESH:C565891] (60) |
|
|
Spondylitis, Ankylosing [MESH:D013167] (431) |
|
|
Arthritis, Experimental [MESH:D001169] (3142) |
|
|
Arthritis, Infectious [MESH:D001170] (1702) |
|
|
Arthritis, Juvenile [MESH:D001171] (1060) |
|
|
Arthritis, Psoriatic [MESH:D015535] (1859) |
|
|
Arthritis, Rheumatoid [MESH:D001172] (3603) |
|
|
Gout [MESH:D006073] (261) |
|
|
Osteoarthritis [MESH:D010003] (1743) |
|
|
|
|
|
Arthritis, Psoriatic [MESH:D015535] (1859) |
|
|
Spondylitis, Ankylosing [MESH:D013167] (431) |
|
|
Lethal congenital contracture syndrome 1 [MESH:C537194] (14) |
|
|
Bruck syndrome 2 [MESH:C537407] (64) |
|
|
Lethal Congenital Contracture Syndrome 2 [MESH:C564369] (85) |
|
|
Lethal Arthrogryposis With Anterior Horn Cell Disease [MESH:C567502] (14) |
|
|
Desbuquois syndrome [MESH:C535943] (20) |
|
|
Myopathy, Reducing Body, X-Linked, Childhood-Onset [MESH:C567468] (64) |
|
|
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe [MESH:C567469] (64) |
|
|
Muscle Weakness [MESH:D018908] (478) |
|
|
Lethal congenital contracture syndrome 1 [MESH:C537194] (14) |
|
|
Bruck syndrome 2 [MESH:C537407] (64) |
|
|
Lethal Congenital Contracture Syndrome 2 [MESH:C564369] (85) |
|
|
Lethal Arthrogryposis With Anterior Horn Cell Disease [MESH:C567502] (14) |
|
|
Mitochondrial Encephalomyopathies [MESH:D017237] (1121) |
|
|
Spastic ataxia Charlevoix-Saguenay type [MESH:C536787] (37) |
|
|
|
|
|
Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854) |
|
|
|
|
|
Limb-girdle muscular dystrophy, type 2C [MESH:C535900] (20) |
|
|
Myopathy, X-Linked, With Postural Muscle Atrophy [MESH:C567480] (64) |
|
|
Scapuloperoneal Myopathy, X-Linked Dominant [MESH:C567481] (64) |
|
|
Dermatomyositis [MESH:D003882] (1826) |
|
|
Myositis Ossificans [MESH:D009221] (22) |
|
|
Dermatomyositis [MESH:D003882] (1826) |
|
|
Campomelic Dysplasia [MESH:D055036] (75) |
|
|
Lethal congenital contracture syndrome 1 [MESH:C537194] (14) |
|
|
Bruck syndrome 2 [MESH:C537407] (64) |
|
|
Lethal Congenital Contracture Syndrome 2 [MESH:C564369] (85) |
|
|
Lethal Arthrogryposis With Anterior Horn Cell Disease [MESH:C567502] (14) |
|
|
Roberts Syndrome [MESH:C535687] (32) |
|
|
Desbuquois syndrome [MESH:C535943] (20) |
|
|
Kleefstra Syndrome [MESH:C563043] (25) |
|
|
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23) |
|
|
LIG4 Syndrome [MESH:C564694] (24) |
|
|
Costello Syndrome [MESH:D056685] (407) |
|
|
LEOPARD Syndrome [MESH:D044542] (299) |
|
|
Silver-Russell Syndrome [MESH:D056730] (142) |
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Parietal Foramina With Cleidocranial Dysplasia [MESH:C566825] (36) |
|
|
|
|
|
Roberts Syndrome [MESH:C535687] (32) |
|
|
Craniosynostosis radial aplasia syndrome [MESH:C536788] (30) |
|
|
Jackson-Weiss syndrome [MESH:C537559] (149) |
|
|
Cranioectodermal Dysplasia [MESH:C562966] (16) |
|
|
Craniosynostosis, Type 2 [MESH:C565753] (36) |
|
|
Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149) |
|
|
Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42) |
|
|
Holoprosencephaly 4 [MESH:C564180] (70) |
|
|
Loeys-Dietz Syndrome, Type 2A [MESH:C567156] (78) |
|
|
Macrocephaly Autism Syndrome [MESH:C565342] (151) |
|
|
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy [MESH:C567020] (21) |
|
|
|
|
|
|
|
|
Van der Woude syndrome [MESH:C536528] (33) |
|
|
Popliteal Pterygium Syndrome [MESH:C562509] (33) |
|
|
Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65) |
|
|
Meier-Gorlin syndrome [MESH:C538012] (133) |
|
|
TARP syndrome [MESH:C536942] (18) |
|
|
Hoyeraal Hreidarsson syndrome [MESH:C536068] (154) |
|
|
Seckel syndrome 1 [MESH:C537533] (63) |
|
|
Seckel syndrome 2 [MESH:C537534] (7) |
|
|
Microcephalic Osteodysplastic Primordial Dwarfism, Type II [MESH:C565898] (7) |
|
|
Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83) |
|
|
Noonan syndrome 3 [MESH:C537847] (118) |
|
|
|
|
|
Craniosynostosis radial aplasia syndrome [MESH:C536788] (30) |
|
|
Jackson-Weiss syndrome [MESH:C537559] (149) |
|
|
Cranioectodermal Dysplasia [MESH:C562966] (16) |
|
|
Craniosynostosis, Type 2 [MESH:C565753] (36) |
|
|
Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149) |
|
|
Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
Acromicric dysplasia [MESH:C535662] (520) |
|
|
VACTERL hydrocephaly [MESH:C536521] (151) |
|
|
Proteus Syndrome [MESH:D016715] (152) |
|
|
Roberts Syndrome [MESH:C535687] (32) |
|
|
Popliteal Pterygium Syndrome [MESH:C562509] (33) |
|
|
Jackson-Weiss syndrome [MESH:C537559] (149) |
|
|
TARP syndrome [MESH:C536942] (18) |
|
|
Desbuquois syndrome [MESH:C535943] (20) |
|
|
Hydrolethalus Syndrome 1 [MESH:C565504] (14) |
|
|
Popliteal Pterygium Syndrome [MESH:C562509] (33) |
|
|
Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149) |
|
|
Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42) |
|
|
|
|
|
Oculootoradial syndrome [MESH:C535544] (14) |
|
|
Keutel syndrome [MESH:C536167] (102) |
|
|
|
|
|
Craniosynostosis radial aplasia syndrome [MESH:C536788] (30) |
|
|
Jackson-Weiss syndrome [MESH:C537559] (149) |
|
|
Cranioectodermal Dysplasia [MESH:C562966] (16) |
|
|
Craniosynostosis, Type 2 [MESH:C565753] (36) |
|
|
Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149) |
|
|
Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42) |
|
|
Popliteal Pterygium Syndrome [MESH:C562509] (33) |
|
|
Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149) |
|
|
Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42) |
|
|
Arthritis, Juvenile [MESH:D001171] (1060) |
|
|
Arthritis, Rheumatoid [MESH:D001172] (3603) |
|
|
Gout [MESH:D006073] (261) |
|
|
Osteoarthritis [MESH:D010003] (1743) |
|
 |
C06. Digestive System Diseases |
 |
 |
|
C06. Digestive System Diseases |
|
|
|
|
|
|
|
|
|
|
|
Finnish lethal neonatal metabolic syndrome [MESH:C537934] (23) |
|
|
Cholestasis, progressive familial intrahepatic 1 [MESH:C535933] (263) |
|
|
Alagille Syndrome [MESH:D016738] (105) |
|
|
Liver Cirrhosis, Biliary [MESH:D008105] (1274) |
|
|
|
|
|
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78) |
|
|
Gallbladder Neoplasms [MESH:D005706] (993) |
|
|
Gallbladder Neoplasms [MESH:D005706] (993) |
|
|
Barrett Esophagus [MESH:D001471] (1930) |
|
|
Hirschsprung Disease [MESH:D006627] (361) |
|
|
Oculootoradial syndrome [MESH:C535544] (14) |
|
|
|
|
|
Gallbladder Neoplasms [MESH:D005706] (993) |
|
|
Gastrointestinal Stromal Tumors [MESH:D046152] (170) |
|
|
Stomach Neoplasms [MESH:D013274] (4942) |
|
|
Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396) |
|
|
Adenocarcinoma Of Esophagus [MESH:C562730] (1530) |
|
|
Cecal Neoplasms [MESH:D002430] (822) |
|
|
Turcot syndrome [MESH:C536928] (159) |
|
|
Colonic Neoplasms [MESH:D003110] (4405) |
|
|
Rectal Neoplasms [MESH:D012004] (717) |
|
|
Lynch syndrome I (site-specific colonic cancer) [MESH:C537261] (130) |
|
|
Carcinoma, Hepatocellular [MESH:D006528] (5375) |
|
|
Liver Neoplasms, Experimental [MESH:D008114] (2837) |
|
|
Pancreatic cancer, adult [MESH:C535836] (572) |
|
|
Carcinoma, Pancreatic Ductal [MESH:D021441] (1056) |
|
|
|
|
|
Barrett Esophagus [MESH:D001471] (1930) |
|
|
|
|
|
Gastroesophageal Reflux [MESH:D005764] (1465) |
|
|
Achalasia Addisonianism Alacrimia syndrome [MESH:C536008] (24) |
|
|
Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396) |
|
|
Adenocarcinoma Of Esophagus [MESH:C562730] (1530) |
|
|
Mucositis [MESH:D052016] (1238) |
|
|
Colitis, Ulcerative [MESH:D003093] (2601) |
|
|
Enterocolitis, Necrotizing [MESH:D020345] (1367) |
|
|
Colitis, Ulcerative [MESH:D003093] (2601) |
|
|
Crohn Disease [MESH:D003424] (2585) |
|
|
Gastrointestinal Stromal Tumors [MESH:D046152] (170) |
|
|
Stomach Neoplasms [MESH:D013274] (4942) |
|
|
Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396) |
|
|
Adenocarcinoma Of Esophagus [MESH:C562730] (1530) |
|
|
Cecal Neoplasms [MESH:D002430] (822) |
|
|
Turcot syndrome [MESH:C536928] (159) |
|
|
Colonic Neoplasms [MESH:D003110] (4405) |
|
|
Rectal Neoplasms [MESH:D012004] (717) |
|
|
Lynch syndrome I (site-specific colonic cancer) [MESH:C537261] (130) |
|
|
|
|
|
Cecal Neoplasms [MESH:D002430] (822) |
|
|
|
|
|
Colitis, Ulcerative [MESH:D003093] (2601) |
|
|
Turcot syndrome [MESH:C536928] (159) |
|
|
Colonic Neoplasms [MESH:D003110] (4405) |
|
|
Lynch syndrome I (site-specific colonic cancer) [MESH:C537261] (130) |
|
|
Hirschsprung Disease [MESH:D006627] (361) |
|
|
Peptic Ulcer [MESH:D010437] (1969) |
|
|
Enterocolitis, Necrotizing [MESH:D020345] (1367) |
|
|
Colitis, Ulcerative [MESH:D003093] (2601) |
|
|
Crohn Disease [MESH:D003424] (2585) |
|
|
Cecal Neoplasms [MESH:D002430] (822) |
|
|
Turcot syndrome [MESH:C536928] (159) |
|
|
Colonic Neoplasms [MESH:D003110] (4405) |
|
|
Rectal Neoplasms [MESH:D012004] (717) |
|
|
Lynch syndrome I (site-specific colonic cancer) [MESH:C537261] (130) |
|
|
Juvenile polyposis syndrome [MESH:C537702] (196) |
|
|
Microvillus inclusion disease [MESH:C537470] (28) |
|
|
Celiac Disease [MESH:D002446] (340) |
|
|
Lactose Intolerance, Adult Type [MESH:C562601] (112) |
|
|
|
|
|
Turcot syndrome [MESH:C536928] (159) |
|
|
Rectal Neoplasms [MESH:D012004] (717) |
|
|
Stomach Ulcer [MESH:D013276] (2915) |
|
|
Stomach Neoplasms [MESH:D013274] (4942) |
|
|
Stomach Ulcer [MESH:D013276] (2915) |
|
|
Drug-Induced Liver Injury [MESH:D056486] (4936) |
|
|
Hepatomegaly [MESH:D006529] (1169) |
|
|
Hepatorenal Syndrome [MESH:D006530] (910) |
|
|
Hypertension, Portal [MESH:D006975] (869) |
|
|
Liver Diseases, Parasitic [MESH:D008109] (1009) |
|
|
Zellweger Syndrome [MESH:D015211] (182) |
|
|
Cholestasis, progressive familial intrahepatic 1 [MESH:C535933] (263) |
|
|
Alagille Syndrome [MESH:D016738] (105) |
|
|
Liver Cirrhosis, Biliary [MESH:D008105] (1274) |
|
|
Non-alcoholic Fatty Liver Disease [MESH:C541083] (1567) |
|
|
|
|
|
Hepatic Encephalopathy [MESH:D006501] (1795) |
|
|
Massive Hepatic Necrosis [MESH:D047508] (93) |
|
|
Hepatitis, Alcoholic [MESH:D006519] (1613) |
|
|
Hepatitis, Animal [MESH:D006520] (260) |
|
|
Hepatitis, Autoimmune [MESH:D019693] (1982) |
|
|
Hepatitis C [MESH:D006526] (1627) |
|
|
Liver Cirrhosis, Alcoholic [MESH:D008104] (3066) |
|
|
Liver Cirrhosis, Biliary [MESH:D008105] (1274) |
|
|
Liver Cirrhosis, Experimental [MESH:D008106] (4589) |
|
|
Hepatitis, Alcoholic [MESH:D006519] (1613) |
|
|
Liver Cirrhosis, Alcoholic [MESH:D008104] (3066) |
|
|
Carcinoma, Hepatocellular [MESH:D006528] (5375) |
|
|
Liver Neoplasms, Experimental [MESH:D008114] (2837) |
|
|
|
|
|
Renal hepatic pancreatic dysplasia Dandy Walker cyst [MESH:C537756] (11) |
|
|
Pancreatic cancer, adult [MESH:C535836] (572) |
|
|
Carcinoma, Pancreatic Ductal [MESH:D021441] (1056) |
|
|
Peritonitis [MESH:D010538] (800) |
|
 |
C07. Stomatognathic Diseases |
 |
 |
|
C07. Stomatognathic Diseases |
|
|
|
|
|
|
|
|
External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation [MESH:C566509] (71) |
|
|
Van der Woude syndrome [MESH:C536528] (33) |
|
|
Popliteal Pterygium Syndrome [MESH:C562509] (33) |
|
|
Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65) |
|
|
PCI 5002 [MESH:C568608] (527) |
|
|
Meier-Gorlin syndrome [MESH:C538012] (133) |
|
|
TARP syndrome [MESH:C536942] (18) |
|
|
Stevenson-Carey Syndrome [MESH:C567446] (44) |
|
|
Mucositis [MESH:D052016] (1238) |
|
|
Oral Submucous Fibrosis [MESH:D009914] (2432) |
|
|
Oral Ulcer [MESH:D019226] (488) |
|
|
|
|
|
Van der Woude syndrome [MESH:C536528] (33) |
|
|
Popliteal Pterygium Syndrome [MESH:C562509] (33) |
|
|
PCI 5002 [MESH:C568608] (433) |
|
|
|
|
|
Van der Woude syndrome [MESH:C536528] (33) |
|
|
Popliteal Pterygium Syndrome [MESH:C562509] (33) |
|
|
PCI 5002 [MESH:C568608] (433) |
|
|
Van der Woude syndrome [MESH:C536528] (33) |
|
|
Popliteal Pterygium Syndrome [MESH:C562509] (33) |
|
|
Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65) |
|
|
Opitz GBBB Syndrome, X-Linked [MESH:C567932] (535) |
|
|
|
|
|
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia [MESH:C566352] (437) |
|
|
Orstavik Lindemann Solberg syndrome [MESH:C537137] (668) |
|
|
Poikiloderma of Kindler [MESH:C536321] (64) |
|
|
Alveolar Bone Loss [MESH:D016301] (220) |
|
|
Aggressive Periodontitis [MESH:D010520] (74) |
|
|
Chronic Periodontitis [MESH:D055113] (231) |
|
|
|
|
|
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia [MESH:C566352] (437) |
|
|
|
|
|
Orstavik Lindemann Solberg syndrome [MESH:C537137] (668) |
|
|
|
|
|
|
|
|
Nasopharyngeal carcinoma [MESH:C538339] (1198) |
|
|
|
|
|
Nasopharyngeal carcinoma [MESH:C538339] (1198) |
|
|
|
|
|
|
|
|
External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation [MESH:C566509] (71) |
|
|
Van der Woude syndrome [MESH:C536528] (33) |
|
|
Popliteal Pterygium Syndrome [MESH:C562509] (33) |
|
|
Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65) |
|
|
Opitz GBBB Syndrome, X-Linked [MESH:C567932] (535) |
|
|
Meier-Gorlin syndrome [MESH:C538012] (133) |
|
|
TARP syndrome [MESH:C536942] (18) |
|
|
Stevenson-Carey Syndrome [MESH:C567446] (44) |
|
|
|
|
|
Van der Woude syndrome [MESH:C536528] (33) |
|
|
Popliteal Pterygium Syndrome [MESH:C562509] (33) |
|
|
Orofacial Cleft 12 [MESH:C567548] (434) |
|
|
Van der Woude syndrome [MESH:C536528] (33) |
|
|
Popliteal Pterygium Syndrome [MESH:C562509] (33) |
|
|
Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65) |
|
|
Opitz GBBB Syndrome, X-Linked [MESH:C567932] (535) |
|
|
Toothache [MESH:D014098] (46) |
|
 |
C08. Respiratory Tract Diseases |
 |
 |
|
C08. Respiratory Tract Diseases |
|
|
Not Fully Specified [NFS] (1984) |
|
|
Ciliary Motility Disorders [MESH:D002925] (104) |
|
|
Respiratory System Abnormalities [MESH:D015619] (243) |
|
|
Asthma [MESH:D001249] (4098) |
|
|
Bronchiectasis [MESH:D001987] (1792) |
|
|
Bronchitis, Chronic [MESH:D029481] (569) |
|
|
Pneumonia [MESH:D011014] (3482) |
|
|
Pulmonary Edema [MESH:D011654] (2109) |
|
|
Pulmonary Fibrosis [MESH:D011658] (3140) |
|
|
Pulmonary Veno-Occlusive Disease [MESH:D011668] (55) |
|
|
Respiratory Distress Syndrome, Adult [MESH:D012128] (864) |
|
|
Pulmonary arterial hypertension [MESH:C536282] (94) |
|
|
|
|
|
Anthracosis [MESH:D055008] (1805) |
|
|
Berylliosis [MESH:D001607] (2005) |
|
|
Silicosis [MESH:D012829] (1273) |
|
|
Asthma [MESH:D001249] (3903) |
|
|
Bronchitis, Chronic [MESH:D029481] (569) |
|
|
Bronchitis, Chronic [MESH:D029481] (569) |
|
|
Acute Lung Injury [MESH:D055371] (1907) |
|
|
Anthracosis [MESH:D055008] (1805) |
|
|
Berylliosis [MESH:D001607] (2005) |
|
|
Silicosis [MESH:D012829] (1273) |
|
|
Adenocarcinoma of lung [MESH:C538231] (1487) |
|
|
Carcinoma, Non-Small-Cell Lung [MESH:D002289] (3540) |
|
|
Small Cell Lung Carcinoma [MESH:D055752] (1380) |
|
|
Pleurisy [MESH:D010998] (2070) |
|
|
Pneumothorax, Primary Spontaneous [MESH:C566795] (35) |
|
|
Hyperventilation [MESH:D006985] (654) |
|
|
Respiratory Distress Syndrome, Adult [MESH:D012128] (864) |
|
|
|
|
|
|
|
|
Congenital central hypoventilation syndrome [MESH:C536209] (341) |
|
|
|
|
|
Congenital central hypoventilation syndrome [MESH:C536209] (341) |
|
|
Limb-girdle muscular dystrophy, type 2C [MESH:C535900] (20) |
|
|
Asthma [MESH:D001249] (4098) |
|
|
Influenza, Human [MESH:D007251] (1075) |
|
|
Pleurisy [MESH:D010998] (2070) |
|
|
Pneumonia [MESH:D011014] (3482) |
|
|
Bronchitis, Chronic [MESH:D029481] (569) |
|
|
|
|
|
Adenocarcinoma of lung [MESH:C538231] (1487) |
|
|
|
|
|
Carcinoma, Non-Small-Cell Lung [MESH:D002289] (3540) |
|
|
Small Cell Lung Carcinoma [MESH:D055752] (1380) |
|
 |
C09. Otorhinolaryngologic Diseases |
 |
 |
|
C09. Otorhinolaryngologic Diseases |
|
|
Ciliary Motility Disorders [MESH:D002925] (104) |
|
|
|
|
|
|
|
|
|
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e [MESH:C566136] (76) |
|
|
Oculootoradial syndrome [MESH:C535544] (14) |
|
|
Chudley-Mccullough syndrome [MESH:C535459] (45) |
|
|
Griscelli syndrome type 1 [MESH:C537301] (42) |
|
|
Bjornstad syndrome [MESH:C537633] (23) |
|
|
Barakat syndrome [MESH:C537907] (71) |
|
|
Deafness, Autosomal Dominant 9 [MESH:C563335] (33) |
|
|
Deafness, Autosomal Recessive 37 [MESH:C564331] (35) |
|
|
Deafness, Autosomal Recessive 28 [MESH:C565218] (26) |
|
|
Hearing Loss, Noise-Induced [MESH:D006317] (134) |
|
|
Auditory Neuropathy, Autosomal Dominant, 1 [MESH:C563790] (92) |
|
|
|
|
|
Kabuki syndrome [MESH:C537705] (9) |
|
|
|
|
|
|
|
|
Auditory Neuropathy, Autosomal Dominant, 1 [MESH:C563790] (92) |
|
|
|
|
|
|
|
|
Nasopharyngeal carcinoma [MESH:C538339] (1198) |
|
|
|
|
|
|
|
|
Nasopharyngeal carcinoma [MESH:C538339] (1198) |
|
|
|
|
|
Nasopharyngeal carcinoma [MESH:C538339] (1198) |
|
 |
C10. Nervous System Diseases |
 |
 |
|
C10. Nervous System Diseases |
|
|
Not Fully Specified [NFS] (4027) |
|
|
|
|
|
Aicardi-Goutieres Syndrome 4 [MESH:C563681] (39) |
|
|
Multiple Sclerosis [MESH:D009103] (1716) |
|
|
Encephalomyelitis, Autoimmune, Experimental [MESH:D004681] (806) |
|
|
Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172) |
|
|
|
|
|
Brain Injuries [MESH:D001930] (3429) |
|
|
Hypoxia, Brain [MESH:D002534] (134) |
|
|
|
|
|
Auditory Neuropathy, Autosomal Dominant, 1 [MESH:C563790] (92) |
|
|
Huntington Disease [MESH:D006816] (540) |
|
|
Supranuclear Palsy, Progressive [MESH:D013494] (235) |
|
|
|
|
|
Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31) |
|
|
Lewy Body Disease [MESH:D020961] (1143) |
|
|
Parkinson Disease, Secondary [MESH:D010302] (327) |
|
|
Parkinson Disease 6, Autosomal Recessive Early-Onset [MESH:C565276] (42) |
|
|
Hepatic Encephalopathy [MESH:D006501] (1795) |
|
|
Kernicterus [MESH:D007647] (256) |
|
|
Mitochondrial Encephalomyopathies [MESH:D017237] (158) |
|
|
Leigh Disease [MESH:D007888] (206) |
|
|
Lesch-Nyhan Syndrome [MESH:D007926] (129) |
|
|
Maple Syrup Urine Disease [MESH:D008375] (127) |
|
|
Tyrosinemias [MESH:D020176] (132) |
|
|
Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333) |
|
|
Alexander Disease [MESH:D038261] (168) |
|
|
Pelizaeus-Merzbacher Disease [MESH:D020371] (103) |
|
|
Fucosidosis [MESH:D005645] (34) |
|
|
Sialic Acid Storage Disease [MESH:D029461] (63) |
|
|
Neuraminidase 1 deficiency [MESH:C537366] (31) |
|
|
Microvillus inclusion disease [MESH:C537470] (28) |
|
|
Fabry Disease [MESH:D000795] (56) |
|
|
Zellweger Syndrome [MESH:D015211] (182) |
|
|
Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67) |
|
|
Pyruvate Dehydrogenase E2 Deficiency [MESH:C565448] (44) |
|
|
Osteopetrosis with renal tubular acidosis [MESH:C536058] (130) |
|
|
HHH syndrome [MESH:C538380] (29) |
|
|
Turcot syndrome [MESH:C536928] (159) |
|
|
|
|
|
Pituitary Neoplasms [MESH:D010911] (914) |
|
|
|
|
|
|
|
|
Spastic ataxia Charlevoix-Saguenay type [MESH:C536787] (37) |
|
|
Spinocerebellar Ataxia 15 [MESH:C564685] (90) |
|
|
Renal hepatic pancreatic dysplasia Dandy Walker cyst [MESH:C537756] (11) |
|
|
Spinocerebellar Ataxia 29 [MESH:C537206] (90) |
|
|
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy [MESH:C537313] (22) |
|
|
Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31) |
|
|
Spastic ataxia Charlevoix-Saguenay type [MESH:C536787] (37) |
|
|
Spinocerebellar Ataxia 15 [MESH:C564685] (90) |
|
|
Intracranial Arteriovenous Malformations [MESH:D002538] (1015) |
|
|
Vasospasm, Intracranial [MESH:D020301] (324) |
|
|
|
|
|
|
|
|
Infarction, Middle Cerebral Artery [MESH:D020244] (2268) |
|
|
CADASIL [MESH:D046589] (45) |
|
|
Fabry Disease [MESH:D000795] (56) |
|
|
Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333) |
|
|
CADASIL [MESH:D046589] (45) |
|
|
|
|
|
CADASIL [MESH:D046589] (45) |
|
|
Infarction, Middle Cerebral Artery [MESH:D020244] (2268) |
|
|
|
|
|
Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333) |
|
|
Subarachnoid Hemorrhage [MESH:D013345] (1082) |
|
|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type [MESH:C537944] (333) |
|
|
|
|
|
|
|
|
Infarction, Middle Cerebral Artery [MESH:D020244] (2268) |
|
|
Alzheimer Disease [MESH:D000544] (4275) |
|
|
Huntington Disease [MESH:D006816] (540) |
|
|
Lewy Body Disease [MESH:D020961] (1143) |
|
|
CADASIL [MESH:D046589] (45) |
|
|
Frontotemporal Dementia [MESH:D057180] (300) |
|
|
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy [MESH:C567020] (21) |
|
|
Epilepsies, Myoclonic [MESH:D004831] (1344) |
|
|
Seizures, Febrile [MESH:D003294] (229) |
|
|
Status Epilepticus [MESH:D013226] (4014) |
|
|
Epilepsy, Temporal Lobe [MESH:D004833] (1108) |
|
|
Epilepsy, Tonic-Clonic [MESH:D004830] (1042) |
|
|
Epileptic Encephalopathy, Early Infantile, 2 [MESH:C564064] (11) |
|
|
Epileptic Encephalopathy, Early Infantile, 1 [MESH:C567924] (20) |
|
|
Partington X-linked mental retardation syndrome [MESH:C536300] (12) |
|
|
Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83) |
|
|
|
|
|
Migraine Disorders [MESH:D008881] (2318) |
|
|
Hydrocephalus, X-linked [MESH:C536078] (37) |
|
|
VACTERL hydrocephaly [MESH:C536521] (151) |
|
|
Hydrolethalus Syndrome 1 [MESH:C565504] (14) |
|
|
Renal hepatic pancreatic dysplasia Dandy Walker cyst [MESH:C537756] (11) |
|
|
Bardet-Biedl Syndrome [MESH:D020788] (110) |
|
|
Pituitary Neoplasms [MESH:D010911] (914) |
|
|
|
|
|
Hyperprolactinemia [MESH:D006966] (603) |
|
|
Panhypopituitarism X-linked [MESH:C538613] (18) |
|
|
Mental Retardation, X-Linked, With Panhypopituitarism [MESH:C567485] (18) |
|
|
Growth Hormone-Secreting Pituitary Adenoma [MESH:D049912] (383) |
|
|
Prolactinoma [MESH:D015175] (312) |
|
|
|
|
|
Hydrocephalus, X-linked [MESH:C536078] (37) |
|
|
VACTERL hydrocephaly [MESH:C536521] (151) |
|
|
Hydrolethalus Syndrome 1 [MESH:C565504] (14) |
|
|
Renal hepatic pancreatic dysplasia Dandy Walker cyst [MESH:C537756] (11) |
|
|
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation [MESH:C567009] (13) |
|
|
Encephalomyelitis, Autoimmune, Experimental [MESH:D004681] (806) |
|
|
Alexander Disease [MESH:D038261] (168) |
|
|
Pelizaeus-Merzbacher Disease [MESH:D020371] (103) |
|
|
|
|
|
|
|
|
Meningitis, Aseptic [MESH:D008582] (1305) |
|
|
Meningitis, Aseptic [MESH:D008582] (1305) |
|
|
Meningitis, Aseptic [MESH:D008582] (1305) |
|
|
Angelman Syndrome [MESH:D017204] (124) |
|
|
Supranuclear Palsy, Progressive [MESH:D013494] (235) |
|
|
|
|
|
Huntington Disease [MESH:D006816] (540) |
|
|
|
|
|
Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31) |
|
|
Lewy Body Disease [MESH:D020961] (1143) |
|
|
Parkinson Disease, Secondary [MESH:D010302] (327) |
|
|
Parkinson Disease 6, Autosomal Recessive Early-Onset [MESH:C565276] (42) |
|
|
Spinal Cord Compression [MESH:D013117] (1800) |
|
|
Spinal Cord Injuries [MESH:D013119] (1674) |
|
|
Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559) |
|
|
Amyotrophic Lateral Sclerosis 2, Juvenile [MESH:C565957] (29) |
|
|
|
|
|
Bulbospinal neuronopathy, X-linked recessive [MESH:C537017] (565) |
|
|
Spinocerebellar Ataxia 29 [MESH:C537206] (90) |
|
|
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy [MESH:C537313] (22) |
|
|
Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31) |
|
|
Spastic ataxia Charlevoix-Saguenay type [MESH:C536787] (37) |
|
|
Spinocerebellar Ataxia 15 [MESH:C564685] (90) |
|
|
|
|
|
Potocki-Lupski syndrome [MESH:C538355] (17) |
|
|
|
|
|
Duane Retraction Syndrome [MESH:D004370] (43) |
|
|
Oculootoradial syndrome [MESH:C535544] (14) |
|
|
Supranuclear Palsy, Progressive [MESH:D013494] (235) |
|
|
Optic Atrophy [MESH:D009896] (1203) |
|
|
|
|
|
Encephalomyelitis, Autoimmune, Experimental [MESH:D004681] (806) |
|
|
Multiple Sclerosis [MESH:D009103] (1716) |
|
|
Alexander Disease [MESH:D038261] (168) |
|
|
Pelizaeus-Merzbacher Disease [MESH:D020371] (103) |
|
|
Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172) |
|
|
Aicardi-Goutieres Syndrome 4 [MESH:C563681] (39) |
|
|
Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172) |
|
|
Chudley-Mccullough syndrome [MESH:C535459] (45) |
|
|
Proud Syndrome [MESH:C563110] (12) |
|
|
Corpus Callosum, Partial Agenesis of, X-Linked [MESH:C564115] (37) |
|
|
Holoprosencephaly 4 [MESH:C564180] (70) |
|
|
|
|
|
Chudley-Mccullough syndrome [MESH:C535459] (45) |
|
|
Intracranial Arteriovenous Malformations [MESH:D002538] (1015) |
|
|
Renal hepatic pancreatic dysplasia Dandy Walker cyst [MESH:C537756] (11) |
|
|
|
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e [MESH:C566136] (76) |
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2n [MESH:C567653] (33) |
|
|
MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome [MESH:C536029] (37) |
|
|
Spastic paraplegia 20, autosomal recessive [MESH:C536858] (24) |
|
|
Hereditary spastic paralysis, infantile onset ascending [MESH:C537217] (29) |
|
|
Tuberous Sclerosis [MESH:D014402] (635) |
|
|
|
|
|
Lissencephaly, X-Linked, 2 [MESH:C564563] (12) |
|
|
Macrocephaly Autism Syndrome [MESH:C565342] (151) |
|
|
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy [MESH:C567020] (21) |
|
|
Hoyeraal Hreidarsson syndrome [MESH:C536068] (154) |
|
|
Seckel syndrome 1 [MESH:C537533] (63) |
|
|
Seckel syndrome 2 [MESH:C537534] (7) |
|
|
Microcephalic Osteodysplastic Primordial Dwarfism, Type II [MESH:C565898] (7) |
|
|
Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83) |
|
|
|
|
|
Lissencephaly, X-Linked, 2 [MESH:C564563] (12) |
|
|
Heterotopia, Periventricular, Autosomal Recessive [MESH:C564292] (14) |
|
|
Spinal Dysraphism [MESH:D016135] (1025) |
|
|
Neural tube defect, folate-sensitive [MESH:C536409] (111) |
|
|
Parietal Foramina With Cleidocranial Dysplasia [MESH:C566825] (36) |
|
|
Parietal Foramina [MESH:C566826] (42) |
|
|
|
|
|
|
|
|
Turcot syndrome [MESH:C536928] (159) |
|
|
|
|
|
Pituitary Neoplasms [MESH:D010911] (914) |
|
|
|
|
|
Chudley-Mccullough syndrome [MESH:C535459] (45) |
|
|
|
|
|
Meningioma, familial [MESH:C537443] (195) |
|
|
Nevus, Sebaceous of Jadassohn [MESH:D054000] (209) |
|
|
Sturge-Weber Syndrome [MESH:D013341] (76) |
|
|
Tuberous Sclerosis [MESH:D014402] (635) |
|
|
von Hippel-Lindau Disease [MESH:D006623] (580) |
|
|
Neurofibromatosis 1 [MESH:D009456] (117) |
|
|
Lewy Body Disease [MESH:D020961] (1143) |
|
|
Alexander Disease [MESH:D038261] (168) |
|
|
Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172) |
|
|
Huntington Disease [MESH:D006816] (540) |
|
|
Lesch-Nyhan Syndrome [MESH:D007926] (129) |
|
|
Tuberous Sclerosis [MESH:D014402] (635) |
|
|
Bulbospinal neuronopathy, X-linked recessive [MESH:C537017] (565) |
|
|
|
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e [MESH:C566136] (76) |
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2n [MESH:C567653] (33) |
|
|
MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome [MESH:C536029] (37) |
|
|
Spastic paraplegia 20, autosomal recessive [MESH:C536858] (24) |
|
|
Hereditary spastic paralysis, infantile onset ascending [MESH:C537217] (29) |
|
|
Neurofibromatosis 1 [MESH:D009456] (117) |
|
|
Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946) |
|
|
Ceroid lipofuscinosis, neuronal 8 [MESH:C537952] (28) |
|
|
Ceroid Lipofuscinosis, Neuronal, 6 [MESH:C566627] (20) |
|
|
Epileptic Encephalopathy, Early Infantile, 2 [MESH:C564064] (11) |
|
|
Spinocerebellar Ataxia 29 [MESH:C537206] (90) |
|
|
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy [MESH:C537313] (22) |
|
|
Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31) |
|
|
Spastic ataxia Charlevoix-Saguenay type [MESH:C536787] (37) |
|
|
Spinocerebellar Ataxia 15 [MESH:C564685] (90) |
|
|
Primary lateral sclerosis juvenile [MESH:C536416] (29) |
|
|
Lethal Arthrogryposis With Anterior Horn Cell Disease [MESH:C567502] (14) |
|
|
Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559) |
|
|
Amyotrophic Lateral Sclerosis 2, Juvenile [MESH:C565957] (29) |
|
|
|
|
|
Bulbospinal neuronopathy, X-linked recessive [MESH:C537017] (565) |
|
|
|
|
|
Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31) |
|
|
Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31) |
|
|
Parkinson Disease 6, Autosomal Recessive Early-Onset [MESH:C565276] (42) |
|
|
Alzheimer Disease [MESH:D000544] (4275) |
|
|
Supranuclear Palsy, Progressive [MESH:D013494] (235) |
|
|
|
|
|
Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559) |
|
|
Amyotrophic Lateral Sclerosis 2, Juvenile [MESH:C565957] (29) |
|
|
Frontotemporal Dementia [MESH:D057180] (298) |
|
|
Gait Disorders, Neurologic [MESH:D020233] (491) |
|
|
Neurogenic Inflammation [MESH:D020078] (2246) |
|
|
Catalepsy [MESH:D002375] (1429) |
|
|
Hyperkinesis [MESH:D006948] (1799) |
|
|
Hypokinesia [MESH:D018476] (279) |
|
|
Psychomotor Agitation [MESH:D011595] (167) |
|
|
Partington X-linked mental retardation syndrome [MESH:C536300] (12) |
|
|
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract [MESH:C567203] (27) |
|
|
|
|
|
Spastic ataxia Charlevoix-Saguenay type [MESH:C536787] (37) |
|
|
Spinocerebellar Ataxia 15 [MESH:C564685] (90) |
|
|
Lethargy [MESH:D053609] (1035) |
|
|
Learning Disorders [MESH:D007859] (2727) |
|
|
Language Development Disorders [MESH:D007805] (351) |
|
|
Aphasia [MESH:D001037] (219) |
|
|
|
|
|
Coma [MESH:D003128] (524) |
|
|
Amnesia [MESH:D000647] (1911) |
|
|
MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome [MESH:C536029] (37) |
|
|
Hoyeraal Hreidarsson syndrome [MESH:C536068] (154) |
|
|
Kleefstra Syndrome [MESH:C563043] (25) |
|
|
Proud Syndrome [MESH:C563110] (12) |
|
|
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23) |
|
|
Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65) |
|
|
Mental Retardation, Autosomal Recessive 4 [MESH:C567008] (3) |
|
|
Mental Retardation, X-Linked, With Panhypopituitarism [MESH:C567485] (18) |
|
|
Cri-du-Chat Syndrome [MESH:D003410] (139) |
|
|
Williams Syndrome [MESH:D018980] (133) |
|
|
Partington X-linked mental retardation syndrome [MESH:C536300] (12) |
|
|
Mental Retardation, X-Linked 9 [MESH:C563137] (14) |
|
|
Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related [MESH:C563150] (12) |
|
|
Mental Retardation, X-Linked, Syndromic 14 [MESH:C567063] (30) |
|
|
Fragile X Syndrome [MESH:D005600] (353) |
|
|
Lesch-Nyhan Syndrome [MESH:D007926] (129) |
|
|
Mucopolysaccharidosis II [MESH:D016532] (26) |
|
|
Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67) |
|
|
Pyruvate Dehydrogenase E2 Deficiency [MESH:C565448] (44) |
|
|
Epileptic Encephalopathy, Early Infantile, 2 [MESH:C564064] (11) |
|
|
Fumaric aciduria [MESH:C538191] (27) |
|
|
Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83) |
|
|
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy [MESH:C567020] (21) |
|
|
Apraxias [MESH:D001072] (118) |
|
|
Psychomotor Agitation [MESH:D011595] (167) |
|
|
Muscle Weakness [MESH:D018908] (478) |
|
|
Muscular Atrophy [MESH:D009133] (1234) |
|
|
Spasm [MESH:D013035] (418) |
|
|
|
|
|
Spastic ataxia Charlevoix-Saguenay type [MESH:C536787] (37) |
|
|
Fumaric aciduria [MESH:C538191] (27) |
|
|
Three M Syndrome 2 [MESH:C567862] (22) |
|
|
Headache [MESH:D006261] (1416) |
|
|
Neuralgia [MESH:D009437] (2074) |
|
|
Quadriplegia [MESH:D011782] (115) |
|
|
Oculootoradial syndrome [MESH:C535544] (14) |
|
|
Supranuclear Palsy, Progressive [MESH:D013494] (235) |
|
|
Reflex, Babinski [MESH:D001405] (97) |
|
|
Partington X-linked mental retardation syndrome [MESH:C536300] (12) |
|
|
Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83) |
|
|
Alcohol Withdrawal Seizures [MESH:D020270] (64) |
|
|
Taste Disorders [MESH:D013651] (461) |
|
|
|
|
|
|
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e [MESH:C566136] (76) |
|
|
Oculootoradial syndrome [MESH:C535544] (14) |
|
|
Chudley-Mccullough syndrome [MESH:C535459] (45) |
|
|
Griscelli syndrome type 1 [MESH:C537301] (42) |
|
|
Bjornstad syndrome [MESH:C537633] (23) |
|
|
Barakat syndrome [MESH:C537907] (71) |
|
|
Deafness, Autosomal Dominant 9 [MESH:C563335] (33) |
|
|
Deafness, Autosomal Recessive 37 [MESH:C564331] (35) |
|
|
Deafness, Autosomal Recessive 28 [MESH:C565218] (26) |
|
|
Hearing Loss, Noise-Induced [MESH:D006317] (134) |
|
|
Auditory Neuropathy, Autosomal Dominant, 1 [MESH:C563790] (92) |
|
|
Hyperalgesia [MESH:D006930] (3929) |
|
|
Paresthesia [MESH:D010292] (416) |
|
|
|
|
|
Primary lateral sclerosis juvenile [MESH:C536416] (29) |
|
|
Lethal Arthrogryposis With Anterior Horn Cell Disease [MESH:C567502] (14) |
|
|
Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559) |
|
|
Amyotrophic Lateral Sclerosis 2, Juvenile [MESH:C565957] (29) |
|
|
|
|
|
Bulbospinal neuronopathy, X-linked recessive [MESH:C537017] (565) |
|
|
Myopathy, Reducing Body, X-Linked, Childhood-Onset [MESH:C567468] (64) |
|
|
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe [MESH:C567469] (64) |
|
|
|
|
|
Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854) |
|
|
|
|
|
Limb-girdle muscular dystrophy, type 2C [MESH:C535900] (20) |
|
|
Myopathy, X-Linked, With Postural Muscle Atrophy [MESH:C567480] (64) |
|
|
Scapuloperoneal Myopathy, X-Linked Dominant [MESH:C567481] (64) |
|
|
Mitochondrial Encephalomyopathies [MESH:D017237] (1121) |
|
|
Dermatomyositis [MESH:D003882] (1826) |
|
|
Dermatomyositis [MESH:D003882] (1826) |
|
|
Diabetic Neuropathies [MESH:D003929] (2442) |
|
|
Neuralgia [MESH:D009437] (2078) |
|
|
Neurofibromatosis 1 [MESH:D009456] (117) |
|
|
Brachial Plexus Neuritis [MESH:D020968] (31) |
|
|
Brachial Plexus Neuritis [MESH:D020968] (31) |
|
|
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract [MESH:C567203] (27) |
|
|
Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172) |
|
|
|
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e [MESH:C566136] (76) |
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2n [MESH:C567653] (33) |
|
|
MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome [MESH:C536029] (37) |
|
|
Spastic paraplegia 20, autosomal recessive [MESH:C536858] (24) |
|
|
Hereditary spastic paralysis, infantile onset ascending [MESH:C537217] (29) |
|
|
Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172) |
|
|
|
|
|
Alcohol Withdrawal Seizures [MESH:D020270] (64) |
|
|
Arsenic Poisoning [MESH:D020261] (2540) |
|
|
Manganese Poisoning [MESH:D020149] (2214) |
|
|
|
|
|
|
|
|
|
|
|
Narcolepsy [MESH:D009290] (478) |
|
|
|
|
|
Congenital central hypoventilation syndrome [MESH:C536209] (341) |
|
|
Spinal Cord Injuries [MESH:D013119] (1676) |
|
|
Brain Injuries [MESH:D001930] (3431) |
|
 |
C11. Eye Diseases |
 |
 |
|
C11. Eye Diseases |
|
|
|
|
|
Corneal Neovascularization [MESH:D016510] (622) |
|
|
Keratoconus [MESH:D007640] (121) |
|
|
Corneal dystrophy, gelatinous drop-like [MESH:C535480] (37) |
|
|
Doyne honeycomb retinal dystrophy [MESH:C535602] (44) |
|
|
Peters anomaly [MESH:C537884] (465) |
|
|
Peters anomaly [MESH:C537884] (465) |
|
|
Popliteal Pterygium Syndrome [MESH:C562509] (33) |
|
|
Duane Retraction Syndrome [MESH:D004370] (43) |
|
|
Graves Ophthalmopathy [MESH:D049970] (165) |
|
|
Corneal dystrophy, gelatinous drop-like [MESH:C535480] (37) |
|
|
Doyne honeycomb retinal dystrophy [MESH:C535602] (44) |
|
|
Leber Congenital Amaurosis 3 [MESH:C565814] (38) |
|
|
Leber Congenital Amaurosis 3 [MESH:C565814] (38) |
|
|
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract [MESH:C567203] (27) |
|
|
|
|
|
Uveal melanoma [MESH:C536494] (109) |
|
|
|
|
|
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract [MESH:C567203] (27) |
|
|
|
|
|
Glaucoma 3, Primary Congenital, A [MESH:C565547] (434) |
|
|
Glaucoma, Primary Open Angle [MESH:C562750] (466) |
|
|
Glaucoma 1, Open Angle, A [MESH:C564234] (446) |
|
|
Duane Retraction Syndrome [MESH:D004370] (43) |
|
|
Oculootoradial syndrome [MESH:C535544] (14) |
|
|
Supranuclear Palsy, Progressive [MESH:D013494] (235) |
|
|
Optic Atrophy [MESH:D009896] (1203) |
|
|
|
|
|
|
|
|
Graves Ophthalmopathy [MESH:D049970] (165) |
|
|
Anisometropia [MESH:D015858] (152) |
|
|
Diabetic Retinopathy [MESH:D003930] (1371) |
|
|
Retinal Detachment [MESH:D012163] (1639) |
|
|
Retinal Vein Occlusion [MESH:D012170] (607) |
|
|
Leber Congenital Amaurosis 3 [MESH:C565814] (38) |
|
|
|
|
|
Fundus Dystrophy, Pseudoinflammatory, Of Sorsby [MESH:C564992] (121) |
|
|
Macular Edema [MESH:D008269] (557) |
|
|
|
|
|
Leber Congenital Amaurosis 3 [MESH:C565814] (38) |
|
|
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract [MESH:C567203] (27) |
|
|
Uveitis [MESH:D014605] (2157) |
|
|
Choroidal Neovascularization [MESH:D020256] (550) |
|
|
Uveal melanoma [MESH:C536494] (109) |
|
 |
C12. Male Urogenital Diseases |
 |
 |
|
C12. Male Urogenital Diseases |
|
|
|
|
|
|
|
|
Penile Neoplasms [MESH:D010412] (890) |
|
|
Prostate cancer, familial [MESH:C537243] (264) |
|
|
|
|
|
Leydig Cell Tumor [MESH:D007984] (267) |
|
|
|
|
|
Azoospermia [MESH:D053713] (1052) |
|
|
Oligospermia [MESH:D009845] (799) |
|
|
Penile Neoplasms [MESH:D010412] (890) |
|
|
Hypospadias 1, X-Linked [MESH:C567482] (571) |
|
|
Prostatic Hyperplasia [MESH:D011470] (336) |
|
|
Prostate cancer, familial [MESH:C537243] (264) |
|
|
Erectile Dysfunction [MESH:D007172] (1791) |
|
|
|
|
|
Chlamydia Infections [MESH:D002690] (1693) |
|
|
Popliteal Pterygium Syndrome [MESH:C562509] (33) |
|
|
Proud Syndrome [MESH:C563110] (12) |
|
|
Lissencephaly, X-Linked, 2 [MESH:C564563] (12) |
|
|
|
|
|
Hyperandrogenism [MESH:D017588] (98) |
|
|
Androgen-Insensitivity Syndrome [MESH:D013734] (567) |
|
|
Kallmann Syndrome [MESH:D017436] (147) |
|
|
Hyperandrogenism [MESH:D017588] (98) |
|
|
Hypospadias 1, X-Linked [MESH:C567482] (571) |
|
|
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23) |
|
|
|
|
|
Penile Neoplasms [MESH:D010412] (890) |
|
|
Prostate cancer, familial [MESH:C537243] (264) |
|
|
|
|
|
Leydig Cell Tumor [MESH:D007984] (267) |
|
|
Ureteral Neoplasms [MESH:D014516] (574) |
|
|
Urinary Bladder Neoplasms [MESH:D001749] (4079) |
|
|
Oncocytoma, renal [MESH:C537750] (35) |
|
|
Carcinoma, Renal Cell [MESH:D002292] (2975) |
|
|
Wilms Tumor [MESH:D009396] (553) |
|
|
|
|
|
Hereditary renal agenesis [MESH:C536482] (89) |
|
|
Diabetic Nephropathies [MESH:D003928] (2301) |
|
|
Hepatorenal Syndrome [MESH:D006530] (910) |
|
|
Hydronephrosis [MESH:D006869] (956) |
|
|
Hyperoxaluria [MESH:D006959] (1498) |
|
|
Zellweger Syndrome [MESH:D015211] (182) |
|
|
Nephronophthisis 3 [MESH:C565780] (11) |
|
|
Polycystic Kidney, Autosomal Recessive [MESH:D017044] (462) |
|
|
Oncocytoma, renal [MESH:C537750] (35) |
|
|
Carcinoma, Renal Cell [MESH:D002292] (2975) |
|
|
Wilms Tumor [MESH:D009396] (553) |
|
|
|
|
|
Glomerulosclerosis, Focal Segmental [MESH:D005923] (1754) |
|
|
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23) |
|
|
Barakat syndrome [MESH:C537907] (71) |
|
|
Nephrotic Syndrome [MESH:D009404] (1536) |
|
|
Acute Kidney Injury [MESH:D058186] (4142) |
|
|
Kidney Failure, Chronic [MESH:D007676] (2930) |
|
|
|
|
|
Osteopetrosis with renal tubular acidosis [MESH:C536058] (130) |
|
|
|
|
|
Vitamin D Hydroxylation-Deficient Rickets, Type 1B [MESH:C564005] (25) |
|
|
Finnish lethal neonatal metabolic syndrome [MESH:C537934] (23) |
|
|
Hemolytic-Uremic Syndrome [MESH:D006463] (2435) |
|
|
Ureteral Neoplasms [MESH:D014516] (574) |
|
|
Ureteral Obstruction [MESH:D014517] (575) |
|
|
Urinary Bladder Neoplasms [MESH:D001749] (4079) |
|
|
Urinary Bladder, Overactive [MESH:D053201] (530) |
|
|
Polyuria [MESH:D011141] (279) |
|
|
Urinary Retention [MESH:D016055] (411) |
|
|
Albuminuria [MESH:D000419] (2394) |
|
|
CD59 Deficiency [MESH:C567355] (57) |
|
 |
C13. Female Urogenital Diseases and Pregnancy Complications |
 |
 |
|
C13. Female Urogenital Diseases and Pregnancy Complications |
|
|
Not Fully Specified [NFS] (1116) |
|
|
|
|
|
Endometriosis [MESH:D004715] (2461) |
|
|
Sexual Dysfunction, Physiological [MESH:D012735] (270) |
|
|
|
|
|
|
|
|
Polycystic Ovary Syndrome [MESH:D011085] (2186) |
|
|
Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143) |
|
|
Infertility, Female [MESH:D007247] (2184) |
|
|
|
|
|
Chlamydia Infections [MESH:D002690] (1693) |
|
|
Endometrial Hyperplasia [MESH:D004714] (263) |
|
|
Uterine Cervical Neoplasms [MESH:D002583] (978) |
|
|
Reed's syndrome [MESH:C535516] (27) |
|
|
Endometrial Neoplasms [MESH:D016889] (1984) |
|
|
Uterine Cervical Neoplasms [MESH:D002583] (978) |
|
|
Vaginal Neoplasms [MESH:D014625] (363) |
|
|
Popliteal Pterygium Syndrome [MESH:C562509] (33) |
|
|
Proud Syndrome [MESH:C563110] (12) |
|
|
Lissencephaly, X-Linked, 2 [MESH:C564563] (12) |
|
|
|
|
|
Hyperandrogenism [MESH:D017588] (98) |
|
|
Androgen-Insensitivity Syndrome [MESH:D013734] (567) |
|
|
Kallmann Syndrome [MESH:D017436] (147) |
|
|
Hyperandrogenism [MESH:D017588] (98) |
|
|
Hypospadias 1, X-Linked [MESH:C567482] (571) |
|
|
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23) |
|
|
|
|
|
Vaginal Neoplasms [MESH:D014625] (363) |
|
|
Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143) |
|
|
Reed's syndrome [MESH:C535516] (27) |
|
|
Endometrial Neoplasms [MESH:D016889] (1989) |
|
|
Uterine Cervical Neoplasms [MESH:D002583] (978) |
|
|
Ureteral Neoplasms [MESH:D014516] (574) |
|
|
Urinary Bladder Neoplasms [MESH:D001749] (4079) |
|
|
Oncocytoma, renal [MESH:C537750] (35) |
|
|
Carcinoma, Renal Cell [MESH:D002292] (2975) |
|
|
Wilms Tumor [MESH:D009396] (553) |
|
|
|
|
|
Hereditary renal agenesis [MESH:C536482] (89) |
|
|
Diabetic Nephropathies [MESH:D003928] (2301) |
|
|
Hepatorenal Syndrome [MESH:D006530] (910) |
|
|
Hydronephrosis [MESH:D006869] (956) |
|
|
Hyperoxaluria [MESH:D006959] (1498) |
|
|
Zellweger Syndrome [MESH:D015211] (182) |
|
|
Nephronophthisis 3 [MESH:C565780] (11) |
|
|
Polycystic Kidney, Autosomal Recessive [MESH:D017044] (462) |
|
|
Oncocytoma, renal [MESH:C537750] (35) |
|
|
Carcinoma, Renal Cell [MESH:D002292] (2975) |
|
|
Wilms Tumor [MESH:D009396] (553) |
|
|
|
|
|
Glomerulosclerosis, Focal Segmental [MESH:D005923] (1754) |
|
|
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23) |
|
|
Barakat syndrome [MESH:C537907] (71) |
|
|
Nephrotic Syndrome [MESH:D009404] (1536) |
|
|
Acute Kidney Injury [MESH:D058186] (4142) |
|
|
Kidney Failure, Chronic [MESH:D007676] (2930) |
|
|
|
|
|
Osteopetrosis with renal tubular acidosis [MESH:C536058] (130) |
|
|
|
|
|
Vitamin D Hydroxylation-Deficient Rickets, Type 1B [MESH:C564005] (25) |
|
|
Finnish lethal neonatal metabolic syndrome [MESH:C537934] (23) |
|
|
Hemolytic-Uremic Syndrome [MESH:D006463] (2435) |
|
|
Ureteral Neoplasms [MESH:D014516] (574) |
|
|
Ureteral Obstruction [MESH:D014517] (575) |
|
|
Urinary Bladder Neoplasms [MESH:D001749] (4079) |
|
|
Urinary Bladder, Overactive [MESH:D053201] (530) |
|
|
Polyuria [MESH:D011141] (279) |
|
|
Urinary Retention [MESH:D016055] (411) |
|
|
Albuminuria [MESH:D000419] (2394) |
|
|
CD59 Deficiency [MESH:C567355] (57) |
|
|
Diabetes, Gestational [MESH:D016640] (1157) |
|
|
Pregnancy Complications, Cardiovascular [MESH:D011249] (1994) |
|
|
Prenatal Injuries [MESH:D049188] (1314) |
|
|
Embryo Loss [MESH:D020964] (288) |
|
|
Fetal Resorption [MESH:D005327] (302) |
|
|
|
|
|
Hoyeraal Hreidarsson syndrome [MESH:C536068] (154) |
|
|
Finnish lethal neonatal metabolic syndrome [MESH:C537934] (23) |
|
|
Microcephalic Osteodysplastic Primordial Dwarfism, Type II [MESH:C565898] (7) |
|
|
Abruptio Placentae [MESH:D000037] (430) |
|
|
Obstetric Labor, Premature [MESH:D007752] (1316) |
|
|
Abruptio Placentae [MESH:D000037] (430) |
|
|
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy [MESH:C567020] (21) |
|
|
|
|
|
Galactorrhea [MESH:D005687] (233) |
|
 |
C14. Cardiovascular Diseases |
 |
 |
|
C14. Cardiovascular Diseases |
|
|
Not Fully Specified [NFS] (2667) |
|
|
Pregnancy Complications, Cardiovascular [MESH:D011249] (1994) |
|
|
|
|
|
Cardiofaciocutaneous syndrome [MESH:C535579] (407) |
|
|
VACTERL hydrocephaly [MESH:C536521] (151) |
|
|
TARP syndrome [MESH:C536942] (18) |
|
|
Kleefstra Syndrome [MESH:C563043] (25) |
|
|
Alagille Syndrome [MESH:D016738] (105) |
|
|
LEOPARD Syndrome [MESH:D044542] (299) |
|
|
Tetralogy of Fallot [MESH:D013771] (121) |
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Naxos disease [MESH:C538346] (51) |
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 [MESH:C566471] (47) |
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 [MESH:C566925] (51) |
|
|
|
|
|
Truncus Arteriosus, Persistent [MESH:D014339] (45) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
Noonan syndrome 3 [MESH:C537847] (118) |
|
|
|
|
|
Capillary Malformation-Arteriovenous Malformation [MESH:C564254] (50) |
|
|
Intracranial Arteriovenous Malformations [MESH:D002538] (1015) |
|
|
Intracranial Arteriovenous Malformations [MESH:D002538] (1015) |
|
|
Heart Arrest [MESH:D006323] (1926) |
|
|
Atrial Fibrillation [MESH:D001281] (1053) |
|
|
Bradycardia [MESH:D001919] (1899) |
|
|
Long QT Syndrome [MESH:D008133] (693) |
|
|
Tachycardia [MESH:D013610] (3339) |
|
|
Hypertrophy, Left Ventricular [MESH:D017379] (1430) |
|
|
Cardiomyopathy, Dilated, 1t [MESH:C566052] (76) |
|
|
Cardiomyopathy, Dilated, 1y [MESH:C567507] (103) |
|
|
Diabetic Cardiomyopathies [MESH:D058065] (1995) |
|
|
Myocardial Reperfusion Injury [MESH:D015428] (3500) |
|
|
Myocarditis [MESH:D009205] (1708) |
|
|
Naxos disease [MESH:C538346] (51) |
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 [MESH:C566471] (47) |
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 [MESH:C566925] (51) |
|
|
Cardiomyopathy, Dilated, 1t [MESH:C566052] (76) |
|
|
Cardiomyopathy, Dilated, 1y [MESH:C567507] (103) |
|
|
|
|
|
Cardiomyopathy, Familial Hypertrophic, 3 [MESH:C566170] (103) |
|
|
Limb-girdle muscular dystrophy, type 2C [MESH:C535900] (20) |
|
|
Cardiofaciocutaneous syndrome [MESH:C535579] (407) |
|
|
VACTERL hydrocephaly [MESH:C536521] (151) |
|
|
TARP syndrome [MESH:C536942] (18) |
|
|
Kleefstra Syndrome [MESH:C563043] (25) |
|
|
LEOPARD Syndrome [MESH:D044542] (299) |
|
|
Tetralogy of Fallot [MESH:D013771] (121) |
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Naxos disease [MESH:C538346] (51) |
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 [MESH:C566471] (47) |
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 [MESH:C566925] (51) |
|
|
|
|
|
Truncus Arteriosus, Persistent [MESH:D014339] (45) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
Noonan syndrome 3 [MESH:C537847] (118) |
|
|
Edema, Cardiac [MESH:D004489] (27) |
|
|
Aortic Valve Insufficiency [MESH:D001022] (1002) |
|
|
|
|
|
Cardiomyopathy, Hypertrophic [MESH:D002312] (1451) |
|
|
Williams Syndrome [MESH:D018980] (133) |
|
|
Keutel syndrome [MESH:C536167] (102) |
|
|
LEOPARD Syndrome [MESH:D044542] (299) |
|
|
Acute Coronary Syndrome [MESH:D054058] (2286) |
|
|
Myocardial Reperfusion Injury [MESH:D015428] (3500) |
|
|
Myocardial Stunning [MESH:D017682] (1816) |
|
|
Acute Coronary Syndrome [MESH:D054058] (2286) |
|
|
Angina, Stable [MESH:D060050] (1702) |
|
|
|
|
|
Coronary Artery Disease, Autosomal Dominant, 1 [MESH:C564258] (46) |
|
|
Coronary Restenosis [MESH:D023903] (1683) |
|
|
Coronary Artery Disease, Autosomal Dominant, 1 [MESH:C564258] (46) |
|
|
Myocardial Stunning [MESH:D017682] (1816) |
|
|
Ventricular Dysfunction, Left [MESH:D018487] (1631) |
|
|
|
|
|
Keutel syndrome [MESH:C536167] (102) |
|
|
Calcification of Joints and Arteries [MESH:C565891] (60) |
|
|
Hypotension [MESH:D007022] (4045) |
|
|
Pulmonary Veno-Occlusive Disease [MESH:D011668] (55) |
|
|
Retinal Vein Occlusion [MESH:D012170] (607) |
|
|
Varicose Veins [MESH:D014648] (383) |
|
|
Vascular System Injuries [MESH:D057772] (2086) |
|
|
|
|
|
|
|
|
Loeys-Dietz Syndrome, Type 2A [MESH:C567156] (78) |
|
|
Aortic Rupture [MESH:D001019] (637) |
|
|
Aortic Rupture [MESH:D001019] (637) |
|
|
Loeys-Dietz Syndrome, Type 2A [MESH:C567156] (78) |
|
|
Loeys-Dietz Syndrome, Type 2A [MESH:C567156] (78) |
|
|
Sturge-Weber Syndrome [MESH:D013341] (76) |
|
|
von Hippel-Lindau Disease [MESH:D006623] (580) |
|
|
|
|
|
Aortic Rupture [MESH:D001019] (637) |
|
|
Loeys-Dietz Syndrome, Type 2A [MESH:C567156] (78) |
|
|
Loeys-Dietz Syndrome, Type 2A [MESH:C567156] (78) |
|
|
|
|
|
Atherosclerosis [MESH:D050197] (4188) |
|
|
Coronary Artery Disease, Autosomal Dominant, 1 [MESH:C564258] (46) |
|
|
Capillary Malformation-Arteriovenous Malformation [MESH:C564254] (50) |
|
|
Intracranial Arteriovenous Malformations [MESH:D002538] (1015) |
|
|
Vasospasm, Intracranial [MESH:D020301] (324) |
|
|
|
|
|
|
|
|
Infarction, Middle Cerebral Artery [MESH:D020244] (2268) |
|
|
CADASIL [MESH:D046589] (45) |
|
|
Fabry Disease [MESH:D000795] (56) |
|
|
Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333) |
|
|
Intracranial Arteriovenous Malformations [MESH:D002538] (1015) |
|
|
CADASIL [MESH:D046589] (45) |
|
|
Infarction, Middle Cerebral Artery [MESH:D020244] (2268) |
|
|
|
|
|
Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333) |
|
|
Subarachnoid Hemorrhage [MESH:D013345] (1082) |
|
|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type [MESH:C537944] (333) |
|
|
|
|
|
|
|
|
Infarction, Middle Cerebral Artery [MESH:D020244] (2268) |
|
|
Diabetic Retinopathy [MESH:D003930] (1371) |
|
|
|
|
|
|
|
|
Retinal Vein Occlusion [MESH:D012170] (607) |
|
|
Multiple Myeloma [MESH:D009101] (2765) |
|
|
Hypertension, Essential [MESH:C562386] (1308) |
|
|
Acute Coronary Syndrome [MESH:D054058] (2286) |
|
|
Myocardial Reperfusion Injury [MESH:D015428] (3500) |
|
|
Myocardial Stunning [MESH:D017682] (1816) |
|
|
Acute Coronary Syndrome [MESH:D054058] (2286) |
|
|
Angina, Stable [MESH:D060050] (1702) |
|
|
|
|
|
Coronary Artery Disease, Autosomal Dominant, 1 [MESH:C564258] (46) |
|
|
Coronary Restenosis [MESH:D023903] (1683) |
|
|
Coronary Artery Disease, Autosomal Dominant, 1 [MESH:C564258] (46) |
|
|
Myocardial Stunning [MESH:D017682] (1816) |
|
|
No-Reflow Phenomenon [MESH:D054318] (277) |
|
|
Myocardial Reperfusion Injury [MESH:D015428] (3500) |
|
 |
C15. Hemic and Lymphatic Diseases |
 |
 |
|
C15. Hemic and Lymphatic Diseases |
|
|
Kabuki syndrome [MESH:C537705] (9) |
|
|
Pancytopenia [MESH:D010198] (332) |
|
|
Anemia, Refractory [MESH:D000753] (1567) |
|
|
Anemia, Sideroblastic [MESH:D000756] (636) |
|
|
|
|
|
|
|
|
Fanconi Anemia, Complementation Group I [MESH:C563802] (34) |
|
|
Fanconi Anemia, Complementation Group D1 [MESH:C563980] (68) |
|
|
CD59 Deficiency [MESH:C567355] (57) |
|
|
Hemolytic-Uremic Syndrome [MESH:D006463] (2435) |
|
|
Anemia, Dyserythropoietic, Congenital [MESH:D000742] (81) |
|
|
Anemia, Hemolytic, Congenital Nonspherocytic [MESH:D000746] (308) |
|
|
Anemia, Sickle Cell [MESH:D000755] (1722) |
|
|
Spherocytosis, Hereditary [MESH:D013103] (137) |
|
|
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23) |
|
|
beta-Thalassemia [MESH:D017086] (458) |
|
|
Anemia, Iron-Deficiency [MESH:D018798] (547) |
|
|
Anemia, Megaloblastic [MESH:D000749] (288) |
|
|
Scott Syndrome [MESH:C563120] (17) |
|
|
Disseminated Intravascular Coagulation [MESH:D004211] (462) |
|
|
Activated Protein C Resistance [MESH:D020016] (140) |
|
|
Activated Protein C Resistance [MESH:D020016] (140) |
|
|
|
|
|
Purpura, Thrombotic Thrombocytopenic [MESH:D011697] (222) |
|
|
|
|
|
Kernicterus [MESH:D007647] (256) |
|
|
|
|
|
Oculootoradial syndrome [MESH:C535544] (14) |
|
|
Hemolytic-Uremic Syndrome [MESH:D006463] (2435) |
|
|
Purpura, Thrombotic Thrombocytopenic [MESH:D011697] (222) |
|
|
Hypergammaglobulinemia [MESH:D006942] (137) |
|
|
Hypoalbuminemia [MESH:D034141] (1332) |
|
|
Multiple Myeloma [MESH:D009101] (2765) |
|
|
Myelodysplastic-Myeloproliferative Diseases [MESH:D054437] (376) |
|
|
|
|
|
|
|
|
Fanconi Anemia, Complementation Group I [MESH:C563802] (34) |
|
|
Fanconi Anemia, Complementation Group D1 [MESH:C563980] (68) |
|
|
Anemia, Refractory [MESH:D000753] (1567) |
|
|
Anemia, Sideroblastic [MESH:D000756] (636) |
|
|
Myeloproliferative Disorder, Chronic, with Eosinophilia [MESH:C565054] (134) |
|
|
Leukemia, Erythroblastic, Acute [MESH:D004915] (89) |
|
|
Leukemia, Myelogenous, Chronic, BCR-ABL Positive [MESH:D015464] (1032) |
|
|
Familial myelofibrosis [MESH:C536848] (21) |
|
|
Anemia, Sickle Cell [MESH:D000755] (1722) |
|
|
beta-Thalassemia [MESH:D017086] (458) |
|
|
Disseminated Intravascular Coagulation [MESH:D004211] (462) |
|
|
Multiple Myeloma [MESH:D009101] (2765) |
|
|
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78) |
|
|
Pelger-Huet Anomaly [MESH:D010381] (28) |
|
|
Myeloproliferative Disorder, Chronic, with Eosinophilia [MESH:C565054] (134) |
|
|
Hypereosinophilic Syndrome [MESH:D017681] (119) |
|
|
|
|
|
|
|
|
Neutropenia, Severe Congenital, Autosomal Recessive 3 [MESH:C537592] (21) |
|
|
|
|
|
Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant [MESH:C567925] (283) |
|
|
Activated Protein C Resistance [MESH:D020016] (140) |
|
|
Disseminated Intravascular Coagulation [MESH:D004211] (462) |
|
|
Purpura, Thrombotic Thrombocytopenic [MESH:D011697] (222) |
|
|
Lymphedema [MESH:D008209] (162) |
|
|
Splenic Diseases [MESH:D013158] (1323) |
|
|
|
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Giant Lymph Node Hyperplasia [MESH:D005871] (1013) |
|
|
Leukemia, T-Cell [MESH:D015458] (395) |
|
|
Leukemia, Lymphocytic, Chronic, B-Cell [MESH:D015451] (2562) |
|
|
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D015452] (354) |
|
|
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054218] (510) |
|
|
Lymphangioleiomyomatosis [MESH:D018192] (162) |
|
|
Hodgkin Disease [MESH:D006689] (1082) |
|
|
Burkitt Lymphoma [MESH:D002051] (691) |
|
|
Lymphoma, Follicular [MESH:D008224] (1025) |
|
|
Lymphoma, Large-Cell, Anaplastic [MESH:D017728] (420) |
|
|
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 |
|
|
|
|
|
Hereditary renal agenesis [MESH:C536482] (89) |
|
|
Respiratory System Abnormalities [MESH:D015619] (244) |
|
|
Oculootoradial syndrome [MESH:C535544] (14) |
|
|
Keutel syndrome [MESH:C536167] (102) |
|
|
Van der Woude syndrome [MESH:C536528] (33) |
|
|
Kabuki syndrome [MESH:C537705] (9) |
|
|
Renal hepatic pancreatic dysplasia Dandy Walker cyst [MESH:C537756] (11) |
|
|
Alagille Syndrome [MESH:D016738] (105) |
|
|
Angelman Syndrome [MESH:D017204] (124) |
|
|
Bardet-Biedl Syndrome [MESH:D020788] (110) |
|
|
Beckwith-Wiedemann Syndrome [MESH:D001506] (193) |
|
|
Bloom Syndrome [MESH:D001816] (107) |
|
|
Costello Syndrome [MESH:D056685] (407) |
|
|
Cri-du-Chat Syndrome [MESH:D003410] (139) |
|
|
LEOPARD Syndrome [MESH:D044542] (299) |
|
|
Nevus, Sebaceous of Jadassohn [MESH:D054000] (209) |
|
|
Proteus Syndrome [MESH:D016715] (152) |
|
|
Silver-Russell Syndrome [MESH:D056730] (142) |
|
|
Smith-Lemli-Opitz Syndrome [MESH:D019082] (100) |
|
|
Wolf-Hirschhorn Syndrome [MESH:D054877] (72) |
|
|
Zellweger Syndrome [MESH:D015211] (182) |
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Cardiofaciocutaneous syndrome [MESH:C535579] (407) |
|
|
Cranioectodermal Dysplasia [MESH:C562966] (16) |
|
|
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant [MESH:C567411] (533) |
|
|
Holoprosencephaly 4 [MESH:C564180] (70) |
|
|
Loeys-Dietz Syndrome, Type 2A [MESH:C567156] (78) |
|
|
Potocki-Lupski syndrome [MESH:C538355] (17) |
|
|
|
|
|
Neural tube defect, folate-sensitive [MESH:C536409] (111) |
|
|
|
|
|
Cardiofaciocutaneous syndrome [MESH:C535579] (407) |
|
|
VACTERL hydrocephaly [MESH:C536521] (151) |
|
|
TARP syndrome [MESH:C536942] (18) |
|
|
Kleefstra Syndrome [MESH:C563043] (25) |
|
|
Alagille Syndrome [MESH:D016738] (105) |
|
|
LEOPARD Syndrome [MESH:D044542] (299) |
|
|
Long QT Syndrome [MESH:D008133] (693) |
|
|
Tetralogy of Fallot [MESH:D013771] (121) |
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Naxos disease [MESH:C538346] (51) |
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 [MESH:C566471] (47) |
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 [MESH:C566925] (51) |
|
|
|
|
|
Truncus Arteriosus, Persistent [MESH:D014339] (45) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
Noonan syndrome 3 [MESH:C537847] (118) |
|
|
|
|
|
Capillary Malformation-Arteriovenous Malformation [MESH:C564254] (50) |
|
|
Intracranial Arteriovenous Malformations [MESH:D002538] (1015) |
|
|
Intracranial Arteriovenous Malformations [MESH:D002538] (1015) |
|
|
Mosaic variegated aneuploidy syndrome [MESH:C536987] (95) |
|
|
Angelman Syndrome [MESH:D017204] (124) |
|
|
Beckwith-Wiedemann Syndrome [MESH:D001506] (193) |
|
|
Cri-du-Chat Syndrome [MESH:D003410] (139) |
|
|
Silver-Russell Syndrome [MESH:D056730] (142) |
|
|
Williams Syndrome [MESH:D018980] (133) |
|
|
Wolf-Hirschhorn Syndrome [MESH:D054877] (72) |
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Holoprosencephaly 4 [MESH:C564180] (70) |
|
|
Fragile X Syndrome [MESH:D005600] (353) |
|
|
Potocki-Lupski syndrome [MESH:C538355] (17) |
|
|
Hirschsprung Disease [MESH:D006627] (361) |
|
|
Oculootoradial syndrome [MESH:C535544] (14) |
|
|
Peters anomaly [MESH:C537884] (465) |
|
|
Popliteal Pterygium Syndrome [MESH:C562509] (33) |
|
|
|
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Campomelic Dysplasia [MESH:D055036] (75) |
|
|
Lethal congenital contracture syndrome 1 [MESH:C537194] (14) |
|
|
Bruck syndrome 2 [MESH:C537407] (64) |
|
|
Lethal Congenital Contracture Syndrome 2 [MESH:C564369] (85) |
|
|
Lethal Arthrogryposis With Anterior Horn Cell Disease [MESH:C567502] (14) |
|
|
Roberts Syndrome [MESH:C535687] (32) |
|
|
Desbuquois syndrome [MESH:C535943] (20) |
|
|
Kleefstra Syndrome [MESH:C563043] (25) |
|
|
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23) |
|
|
LIG4 Syndrome [MESH:C564694] (24) |
|
|
LEOPARD Syndrome [MESH:D044542] (299) |
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Parietal Foramina With Cleidocranial Dysplasia [MESH:C566825] (36) |
|
|
|
|
|
Roberts Syndrome [MESH:C535687] (32) |
|
|
Craniosynostosis radial aplasia syndrome [MESH:C536788] (30) |
|
|
Jackson-Weiss syndrome [MESH:C537559] (149) |
|
|
Cranioectodermal Dysplasia [MESH:C562966] (16) |
|
|
Craniosynostosis, Type 2 [MESH:C565753] (36) |
|
|
Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149) |
|
|
Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42) |
|
|
Holoprosencephaly 4 [MESH:C564180] (70) |
|
|
Macrocephaly Autism Syndrome [MESH:C565342] (151) |
|
|
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy [MESH:C567020] (21) |
|
|
|
|
|
|
|
|
Van der Woude syndrome [MESH:C536528] (33) |
|
|
Popliteal Pterygium Syndrome [MESH:C562509] (33) |
|
|
Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65) |
|
|
Meier-Gorlin syndrome [MESH:C538012] (133) |
|
|
TARP syndrome [MESH:C536942] (18) |
|
|
Hoyeraal Hreidarsson syndrome [MESH:C536068] (154) |
|
|
Seckel syndrome 1 [MESH:C537533] (63) |
|
|
Seckel syndrome 2 [MESH:C537534] (7) |
|
|
Microcephalic Osteodysplastic Primordial Dwarfism, Type II [MESH:C565898] (7) |
|
|
Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83) |
|
|
Noonan syndrome 3 [MESH:C537847] (118) |
|
|
|
|
|
Craniosynostosis radial aplasia syndrome [MESH:C536788] (30) |
|
|
Jackson-Weiss syndrome [MESH:C537559] (149) |
|
|
Cranioectodermal Dysplasia [MESH:C562966] (16) |
|
|
Craniosynostosis, Type 2 [MESH:C565753] (36) |
|
|
Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149) |
|
|
Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
Acromicric dysplasia [MESH:C535662] (520) |
|
|
VACTERL hydrocephaly [MESH:C536521] (151) |
|
|
Proteus Syndrome [MESH:D016715] (152) |
|
|
Roberts Syndrome [MESH:C535687] (32) |
|
|
Jackson-Weiss syndrome [MESH:C537559] (149) |
|
|
TARP syndrome [MESH:C536942] (18) |
|
|
Oculootoradial syndrome [MESH:C535544] (14) |
|
|
Keutel syndrome [MESH:C536167] (102) |
|
|
Popliteal Pterygium Syndrome [MESH:C562509] (33) |
|
|
Desbuquois syndrome [MESH:C535943] (20) |
|
|
Hydrolethalus Syndrome 1 [MESH:C565504] (14) |
|
|
Popliteal Pterygium Syndrome [MESH:C562509] (33) |
|
|
Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149) |
|
|
Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42) |
|
|
|
|
|
Craniosynostosis radial aplasia syndrome [MESH:C536788] (30) |
|
|
Jackson-Weiss syndrome [MESH:C537559] (149) |
|
|
Cranioectodermal Dysplasia [MESH:C562966] (16) |
|
|
Craniosynostosis, Type 2 [MESH:C565753] (36) |
|
|
Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149) |
|
|
Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42) |
|
|
Popliteal Pterygium Syndrome [MESH:C562509] (33) |
|
|
Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149) |
|
|
Saethre-Chotzen Syndrome with Eyelid Anomalies [MESH:C566325] (42) |
|
|
Aicardi-Goutieres Syndrome 4 [MESH:C563681] (39) |
|
|
Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172) |
|
|
Chudley-Mccullough syndrome [MESH:C535459] (45) |
|
|
Proud Syndrome [MESH:C563110] (12) |
|
|
Corpus Callosum, Partial Agenesis of, X-Linked [MESH:C564115] (37) |
|
|
Holoprosencephaly 4 [MESH:C564180] (70) |
|
|
|
|
|
Chudley-Mccullough syndrome [MESH:C535459] (45) |
|
|
Intracranial Arteriovenous Malformations [MESH:D002538] (1015) |
|
|
Renal hepatic pancreatic dysplasia Dandy Walker cyst [MESH:C537756] (11) |
|
|
|
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e [MESH:C566136] (76) |
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2n [MESH:C567653] (33) |
|
|
MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome [MESH:C536029] (37) |
|
|
Spastic paraplegia 20, autosomal recessive [MESH:C536858] (24) |
|
|
Hereditary spastic paralysis, infantile onset ascending [MESH:C537217] (29) |
|
|
Holoprosencephaly 4 [MESH:C564180] (70) |
|
|
Tuberous Sclerosis [MESH:D014402] (635) |
|
|
|
|
|
Lissencephaly, X-Linked, 2 [MESH:C564563] (12) |
|
|
Macrocephaly Autism Syndrome [MESH:C565342] (151) |
|
|
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy [MESH:C567020] (21) |
|
|
Hoyeraal Hreidarsson syndrome [MESH:C536068] (154) |
|
|
Seckel syndrome 1 [MESH:C537533] (63) |
|
|
Seckel syndrome 2 [MESH:C537534] (7) |
|
|
Microcephalic Osteodysplastic Primordial Dwarfism, Type II [MESH:C565898] (7) |
|
|
Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83) |
|
|
|
|
|
Lissencephaly, X-Linked, 2 [MESH:C564563] (12) |
|
|
Heterotopia, Periventricular, Autosomal Recessive [MESH:C564292] (14) |
|
|
Spinal Dysraphism [MESH:D016135] (1025) |
|
|
Neural tube defect, folate-sensitive [MESH:C536409] (111) |
|
|
Parietal Foramina With Cleidocranial Dysplasia [MESH:C566825] (36) |
|
|
Parietal Foramina [MESH:C566826] (42) |
|
|
|
|
|
Acrodermatitis enteropathica [MESH:C538178] (51) |
|
|
Hoyeraal Hreidarsson syndrome [MESH:C536068] (154) |
|
|
Cardiofaciocutaneous syndrome [MESH:C535579] (407) |
|
|
Cranioectodermal Dysplasia [MESH:C562966] (16) |
|
|
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant [MESH:C567411] (533) |
|
|
Keratosis Follicularis Spinulosa Decalvans, X-Linked [MESH:C536159] (78) |
|
|
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78) |
|
|
Capillary Malformation-Arteriovenous Malformation [MESH:C564254] (50) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
Xeroderma Pigmentosum, Complementation Group E [MESH:C564732] (38) |
|
|
|
|
|
|
|
|
|
|
|
Van der Woude syndrome [MESH:C536528] (33) |
|
|
Popliteal Pterygium Syndrome [MESH:C562509] (33) |
|
|
Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65) |
|
|
Meier-Gorlin syndrome [MESH:C538012] (133) |
|
|
TARP syndrome [MESH:C536942] (18) |
|
|
|
|
|
Van der Woude syndrome [MESH:C536528] (33) |
|
|
Popliteal Pterygium Syndrome [MESH:C562509] (33) |
|
|
Van der Woude syndrome [MESH:C536528] (33) |
|
|
Popliteal Pterygium Syndrome [MESH:C562509] (33) |
|
|
Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65) |
|
|
Popliteal Pterygium Syndrome [MESH:C562509] (33) |
|
|
Proud Syndrome [MESH:C563110] (12) |
|
|
Lissencephaly, X-Linked, 2 [MESH:C564563] (12) |
|
|
|
|
|
Hyperandrogenism [MESH:D017588] (98) |
|
|
Androgen-Insensitivity Syndrome [MESH:D013734] (567) |
|
|
Kallmann Syndrome [MESH:D017436] (147) |
|
|
Hyperandrogenism [MESH:D017588] (98) |
|
|
Hypospadias 1, X-Linked [MESH:C567482] (571) |
|
|
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23) |
|
|
|
|
|
Hoyeraal Hreidarsson syndrome [MESH:C536068] (154) |
|
|
Finnish lethal neonatal metabolic syndrome [MESH:C537934] (23) |
|
|
Microcephalic Osteodysplastic Primordial Dwarfism, Type II [MESH:C565898] (7) |
|
|
Alagille Syndrome [MESH:D016738] (105) |
|
|
CADASIL [MESH:D046589] (45) |
|
|
Costello Syndrome [MESH:D056685] (407) |
|
|
Kallmann Syndrome [MESH:D017436] (147) |
|
|
Pelger-Huet Anomaly [MESH:D010381] (28) |
|
|
Polycystic Kidney, Autosomal Recessive [MESH:D017044] (462) |
|
|
Anemia, Dyserythropoietic, Congenital [MESH:D000742] (81) |
|
|
Anemia, Hemolytic, Congenital Nonspherocytic [MESH:D000746] (308) |
|
|
Anemia, Sickle Cell [MESH:D000755] (1722) |
|
|
Spherocytosis, Hereditary [MESH:D013103] (137) |
|
|
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23) |
|
|
beta-Thalassemia [MESH:D017086] (458) |
|
|
|
|
|
Fanconi Anemia, Complementation Group I [MESH:C563802] (34) |
|
|
Fanconi Anemia, Complementation Group D1 [MESH:C563980] (68) |
|
|
Activated Protein C Resistance [MESH:D020016] (140) |
|
|
Cardiomyopathy, Familial Hypertrophic, 3 [MESH:C566170] (103) |
|
|
Mosaic variegated aneuploidy syndrome [MESH:C536987] (95) |
|
|
Angelman Syndrome [MESH:D017204] (124) |
|
|
Beckwith-Wiedemann Syndrome [MESH:D001506] (193) |
|
|
Cri-du-Chat Syndrome [MESH:D003410] (139) |
|
|
Silver-Russell Syndrome [MESH:D056730] (142) |
|
|
Williams Syndrome [MESH:D018980] (133) |
|
|
Wolf-Hirschhorn Syndrome [MESH:D054877] (72) |
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
Holoprosencephaly 4 [MESH:C564180] (70) |
|
|
Fragile X Syndrome [MESH:D005600] (353) |
|
|
Potocki-Lupski syndrome [MESH:C538355] (17) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
Desbuquois syndrome [MESH:C535943] (20) |
|
|
Diastrophic dysplasia [MESH:C536170] (34) |
|
|
Seckel syndrome 1 [MESH:C537533] (63) |
|
|
Seckel syndrome 2 [MESH:C537534] (7) |
|
|
Microcephalic Osteodysplastic Primordial Dwarfism, Type II [MESH:C565898] (7) |
|
|
Three M Syndrome 2 [MESH:C567862] (22) |
|
|
Silver-Russell Syndrome [MESH:D056730] (142) |
|
|
Achondrogenesis type 1B [MESH:C536016] (34) |
|
|
Duane Retraction Syndrome [MESH:D004370] (43) |
|
|
|
|
|
Griscelli syndrome type 1 [MESH:C537301] (42) |
|
|
Corneal dystrophy, gelatinous drop-like [MESH:C535480] (37) |
|
|
Doyne honeycomb retinal dystrophy [MESH:C535602] (44) |
|
|
Leber Congenital Amaurosis 3 [MESH:C565814] (38) |
|
|
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract [MESH:C567203] (27) |
|
|
MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome [MESH:C536029] (37) |
|
|
Hydrocephalus, X-linked [MESH:C536078] (37) |
|
|
Keratosis Follicularis Spinulosa Decalvans, X-Linked [MESH:C536159] (78) |
|
|
Chondrodysplasia punctata 2, X-linked dominant [MESH:C538416] (61) |
|
|
Panhypopituitarism X-linked [MESH:C538613] (18) |
|
|
Spondyloepiphyseal Dysplasia Tarda, X-Linked [MESH:C562447] (13) |
|
|
Proud Syndrome [MESH:C563110] (12) |
|
|
Corpus Callosum, Partial Agenesis of, X-Linked [MESH:C564115] (37) |
|
|
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23) |
|
|
Phosphoglycerate Kinase 1 Deficiency [MESH:C567067] (98) |
|
|
Myopathy, Reducing Body, X-Linked, Childhood-Onset [MESH:C567468] (64) |
|
|
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe [MESH:C567469] (64) |
|
|
Hypospadias 1, X-Linked [MESH:C567482] (571) |
|
|
Mental Retardation, X-Linked, With Panhypopituitarism [MESH:C567485] (18) |
|
|
Androgen-Insensitivity Syndrome [MESH:D013734] (567) |
|
|
Fabry Disease [MESH:D000795] (56) |
|
|
Pelizaeus-Merzbacher Disease [MESH:D020371] (103) |
|
|
Bulbospinal neuronopathy, X-linked recessive [MESH:C537017] (565) |
|
|
Hoyeraal Hreidarsson syndrome [MESH:C536068] (154) |
|
|
Partington X-linked mental retardation syndrome [MESH:C536300] (12) |
|
|
Mental Retardation, X-Linked 9 [MESH:C563137] (14) |
|
|
Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related [MESH:C563150] (12) |
|
|
Mental Retardation, X-Linked, Syndromic 14 [MESH:C567063] (30) |
|
|
Fragile X Syndrome [MESH:D005600] (353) |
|
|
Lesch-Nyhan Syndrome [MESH:D007926] (129) |
|
|
Mucopolysaccharidosis II [MESH:D016532] (26) |
|
|
Lissencephaly, X-Linked, 2 [MESH:C564563] (12) |
|
|
Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67) |
|
|
Pyruvate Dehydrogenase E2 Deficiency [MESH:C565448] (44) |
|
|
Epileptic Encephalopathy, Early Infantile, 2 [MESH:C564064] (11) |
|
|
Myopathy, X-Linked, With Postural Muscle Atrophy [MESH:C567480] (64) |
|
|
Scapuloperoneal Myopathy, X-Linked Dominant [MESH:C567481] (64) |
|
|
Anemia, Sickle Cell [MESH:D000755] (1722) |
|
|
beta-Thalassemia [MESH:D017086] (458) |
|
|
Alexander Disease [MESH:D038261] (168) |
|
|
Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172) |
|
|
Huntington Disease [MESH:D006816] (540) |
|
|
Lesch-Nyhan Syndrome [MESH:D007926] (129) |
|
|
Tuberous Sclerosis [MESH:D014402] (635) |
|
|
|
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e [MESH:C566136] (76) |
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2n [MESH:C567653] (33) |
|
|
MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome [MESH:C536029] (37) |
|
|
Spastic paraplegia 20, autosomal recessive [MESH:C536858] (24) |
|
|
Hereditary spastic paralysis, infantile onset ascending [MESH:C537217] (29) |
|
|
Partington X-linked mental retardation syndrome [MESH:C536300] (12) |
|
|
Mental Retardation, X-Linked 9 [MESH:C563137] (14) |
|
|
Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related [MESH:C563150] (12) |
|
|
Mental Retardation, X-Linked, Syndromic 14 [MESH:C567063] (30) |
|
|
Fragile X Syndrome [MESH:D005600] (353) |
|
|
Lesch-Nyhan Syndrome [MESH:D007926] (129) |
|
|
Mucopolysaccharidosis II [MESH:D016532] (26) |
|
|
Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67) |
|
|
Pyruvate Dehydrogenase E2 Deficiency [MESH:C565448] (44) |
|
|
Epileptic Encephalopathy, Early Infantile, 2 [MESH:C564064] (11) |
|
|
Neurofibromatosis 1 [MESH:D009456] (117) |
|
|
Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946) |
|
|
Ceroid lipofuscinosis, neuronal 8 [MESH:C537952] (28) |
|
|
Ceroid Lipofuscinosis, Neuronal, 6 [MESH:C566627] (20) |
|
|
Epileptic Encephalopathy, Early Infantile, 2 [MESH:C564064] (11) |
|
|
Spinocerebellar Ataxia 29 [MESH:C537206] (90) |
|
|
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy [MESH:C537313] (22) |
|
|
Pontocerebellar Hypoplasia Type 1 [MESH:C548069] (31) |
|
|
Spastic ataxia Charlevoix-Saguenay type [MESH:C536787] (37) |
|
|
Spinocerebellar Ataxia 15 [MESH:C564685] (90) |
|
|
Loeys-Dietz Syndrome, Type 2A [MESH:C567156] (78) |
|
|
3-Hydroxyacyl-CoA Dehydrogenase Deficiency [MESH:C535310] (80) |
|
|
Finnish lethal neonatal metabolic syndrome [MESH:C537934] (23) |
|
|
Fumaric aciduria [MESH:C538191] (27) |
|
|
Coumarin Resistance [MESH:C563039] (397) |
|
|
Hypoproteinemia, Hypercatabolic [MESH:C565476] (99) |
|
|
Phosphoglycerate Kinase 1 Deficiency [MESH:C567067] (98) |
|
|
Gamma aminobutyric acid transaminase deficiency [MESH:C535407] (61) |
|
|
Methylmalonic acidemia [MESH:C537358] (764) |
|
|
Methylmalonic aciduria cblB type [MESH:C537361] (19) |
|
|
Hyperprolinemia type 2 [MESH:C538385] (39) |
|
|
Hyperhomocysteinemia [MESH:D020138] (1724) |
|
|
Maple Syrup Urine Disease [MESH:D008375] (127) |
|
|
Tyrosinemias [MESH:D020176] (132) |
|
|
|
|
|
Griscelli syndrome type 1 [MESH:C537301] (42) |
|
|
Osteopetrosis with renal tubular acidosis [MESH:C536058] (130) |
|
|
HHH syndrome [MESH:C538380] (29) |
|
|
Corneal dystrophy, gelatinous drop-like [MESH:C535480] (37) |
|
|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type [MESH:C537944] (333) |
|
|
Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333) |
|
|
Leigh Disease [MESH:D007888] (206) |
|
|
Lesch-Nyhan Syndrome [MESH:D007926] (129) |
|
|
Maple Syrup Urine Disease [MESH:D008375] (127) |
|
|
Tyrosinemias [MESH:D020176] (132) |
|
|
Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333) |
|
|
Alexander Disease [MESH:D038261] (168) |
|
|
Pelizaeus-Merzbacher Disease [MESH:D020371] (103) |
|
|
Fucosidosis [MESH:D005645] (34) |
|
|
Sialic Acid Storage Disease [MESH:D029461] (63) |
|
|
Neuraminidase 1 deficiency [MESH:C537366] (31) |
|
|
Microvillus inclusion disease [MESH:C537470] (28) |
|
|
Fabry Disease [MESH:D000795] (56) |
|
|
Zellweger Syndrome [MESH:D015211] (182) |
|
|
Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67) |
|
|
Pyruvate Dehydrogenase E2 Deficiency [MESH:C565448] (44) |
|
|
Osteopetrosis with renal tubular acidosis [MESH:C536058] (130) |
|
|
HHH syndrome [MESH:C538380] (29) |
|
|
Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83) |
|
|
Fucosidosis [MESH:D005645] (34) |
|
|
Congenital disorder of glycosylation type 1C [MESH:C535741] (15) |
|
|
Congenital disorder of glycosylation type 1H [MESH:C535746] (19) |
|
|
Congenital disorder of glycosylation type 1J [MESH:C535748] (17) |
|
|
Glycogen Storage Disease IC [MESH:C562805] (53) |
|
|
Glycogen Storage Disease IB [MESH:C562594] (53) |
|
|
Lactose Intolerance, Adult Type [MESH:C562601] (112) |
|
|
Neuraminidase 1 deficiency [MESH:C537366] (31) |
|
|
Microvillus inclusion disease [MESH:C537470] (28) |
|
|
Mucopolysaccharidosis II [MESH:D016532] (26) |
|
|
Mucopolysaccharidosis III [MESH:D009084] (43) |
|
|
Mucopolysaccharidosis IV [MESH:D009085] (46) |
|
|
Leigh Disease [MESH:D007888] (206) |
|
|
Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67) |
|
|
Pyruvate Dehydrogenase E2 Deficiency [MESH:C565448] (44) |
|
|
Hyperbilirubinemia, Transient Familial Neonatal [MESH:C562692] (254) |
|
|
Gilbert Disease [MESH:D005878] (259) |
|
|
Crigler Najjar syndrome, type 2 [MESH:C536213] (254) |
|
|
Hyperlipoproteinemia Type II [MESH:D006938] (707) |
|
|
Smith-Lemli-Opitz Syndrome [MESH:D019082] (100) |
|
|
|
|
|
Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946) |
|
|
Ceroid lipofuscinosis, neuronal 8 [MESH:C537952] (28) |
|
|
Ceroid Lipofuscinosis, Neuronal, 6 [MESH:C566627] (20) |
|
|
Fabry Disease [MESH:D000795] (56) |
|
|
Lipodystrophy, Congenital Generalized, Type 3 [MESH:C567282] (145) |
|
|
|
|
|
Fucosidosis [MESH:D005645] (34) |
|
|
Sialic Acid Storage Disease [MESH:D029461] (63) |
|
|
Neuraminidase 1 deficiency [MESH:C537366] (31) |
|
|
Microvillus inclusion disease [MESH:C537470] (28) |
|
|
Fabry Disease [MESH:D000795] (56) |
|
|
Mucopolysaccharidosis II [MESH:D016532] (26) |
|
|
Mucopolysaccharidosis III [MESH:D009084] (43) |
|
|
Mucopolysaccharidosis IV [MESH:D009085] (46) |
|
|
Hemochromatosis [MESH:D006432] (1694) |
|
|
Hypophosphatasia, Childhood [MESH:C562440] (137) |
|
|
Hypophosphatasia, Infantile [MESH:C562646] (137) |
|
|
Hypophosphatasia, Adult [MESH:C562647] (137) |
|
|
|
|
|
Vitamin D Hydroxylation-Deficient Rickets, Type 1B [MESH:C564005] (25) |
|
|
Zellweger Syndrome [MESH:D015211] (182) |
|
|
Oroticaciduria 1 [MESH:C537136] (41) |
|
|
Purine Nucleoside Phosphorylase Deficiency [MESH:C562587] (63) |
|
|
Gout [MESH:D006073] (261) |
|
|
Lesch-Nyhan Syndrome [MESH:D007926] (129) |
|
|
|
|
|
Osteopetrosis with renal tubular acidosis [MESH:C536058] (130) |
|
|
|
|
|
Vitamin D Hydroxylation-Deficient Rickets, Type 1B [MESH:C564005] (25) |
|
|
Finnish lethal neonatal metabolic syndrome [MESH:C537934] (23) |
|
|
Smith-Lemli-Opitz Syndrome [MESH:D019082] (100) |
|
|
Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854) |
|
|
|
|
|
Limb-girdle muscular dystrophy, type 2C [MESH:C535900] (20) |
|
|
Myopathy, X-Linked, With Postural Muscle Atrophy [MESH:C567480] (64) |
|
|
Scapuloperoneal Myopathy, X-Linked Dominant [MESH:C567481] (64) |
|
|
Turcot syndrome [MESH:C536928] (159) |
|
|
Meningioma, familial [MESH:C537443] (195) |
|
|
Juvenile polyposis syndrome [MESH:C537702] (196) |
|
|
Birt-Hogg-Dube Syndrome [MESH:D058249] (35) |
|
|
Exostoses, Multiple Hereditary [MESH:D005097] (154) |
|
|
Hamartoma Syndrome, Multiple [MESH:D006223] (260) |
|
|
Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143) |
|
|
Li-Fraumeni Syndrome [MESH:D016864] (859) |
|
|
Tuberous Sclerosis [MESH:D014402] (635) |
|
|
Wilms Tumor [MESH:D009396] (553) |
|
|
Lynch syndrome I (site-specific colonic cancer) [MESH:C537261] (130) |
|
|
Muir-Torre Syndrome [MESH:D055653] (102) |
|
|
Multiple Endocrine Neoplasia Type 2b [MESH:D018814] (75) |
|
|
Familial medullary thyroid carcinoma [MESH:C536911] (101) |
|
|
Neurofibromatosis 1 [MESH:D009456] (117) |
|
|
Bruck syndrome 2 [MESH:C537407] (64) |
|
|
Osteogenesis Imperfecta, Type IX [MESH:C564921] (46) |
|
|
Keratosis Follicularis Spinulosa Decalvans, X-Linked [MESH:C536159] (78) |
|
|
Dermatitis, Atopic [MESH:D003876] (2052) |
|
|
Pemphigus, Benign Familial [MESH:D016506] (22) |
|
|
|
|
|
Griscelli syndrome type 1 [MESH:C537301] (42) |
|
|
Hoyeraal Hreidarsson syndrome [MESH:C536068] (154) |
|
|
Cardiofaciocutaneous syndrome [MESH:C535579] (407) |
|
|
Cranioectodermal Dysplasia [MESH:C562966] (16) |
|
|
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant [MESH:C567411] (533) |
|
|
Naxos disease [MESH:C538346] (51) |
|
|
Keratosis palmoplantaris with periodontopathia and onychogryposis [MESH:C537627] (73) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
Xeroderma Pigmentosum, Complementation Group E [MESH:C564732] (38) |
|
|
|
|
|
Kernicterus [MESH:D007647] (256) |
|
|
Hyperbilirubinemia, Transient Familial Neonatal [MESH:C562692] (254) |
|
|
Keratosis Follicularis Spinulosa Decalvans, X-Linked [MESH:C536159] (78) |
|
|
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
 |
C17. Skin and Connective Tissue Diseases |
 |
 |
|
C17. Skin and Connective Tissue Diseases |
|
|
Dermatomyositis [MESH:D003882] (1826) |
|
|
Lupus Erythematosus, Systemic [MESH:D008180] (2317) |
|
|
Scleroderma, Localized [MESH:D012594] (1597) |
|
|
Keutel syndrome [MESH:C536167] (102) |
|
|
Keloid [MESH:D007627] (1111) |
|
|
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23) |
|
|
Bruck syndrome 2 [MESH:C537407] (64) |
|
|
Osteogenesis Imperfecta, Type IX [MESH:C564921] (46) |
|
|
|
|
|
Mucopolysaccharidosis II [MESH:D016532] (26) |
|
|
Mucopolysaccharidosis III [MESH:D009084] (43) |
|
|
Mucopolysaccharidosis IV [MESH:D009085] (46) |
|
|
Noonan syndrome 3 [MESH:C537847] (118) |
|
|
Arthritis, Juvenile [MESH:D001171] (1060) |
|
|
Arthritis, Rheumatoid [MESH:D001172] (3603) |
|
|
Dermatomyositis [MESH:D003882] (1826) |
|
|
Lipomatosis [MESH:D008068] (182) |
|
|
Pruritus [MESH:D011537] (647) |
|
|
Scleroderma, Localized [MESH:D012594] (1597) |
|
|
Chloracne [MESH:D054506] (1274) |
|
|
Gynecomastia [MESH:D006177] (484) |
|
|
Breast Neoplasms, Male [MESH:D018567] (650) |
|
|
Carcinoma, Ductal, Breast [MESH:D018270] (1112) |
|
|
Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143) |
|
|
Galactorrhea [MESH:D005687] (233) |
|
|
Seborrhea-Like Dermatitis with Psoriasiform Elements [MESH:C565217] (6) |
|
|
Dermatitis, Atopic [MESH:D003876] (2052) |
|
|
Acrodermatitis enteropathica [MESH:C538178] (51) |
|
|
Dermatitis, Allergic Contact [MESH:D017449] (3241) |
|
|
|
|
|
Chloracne [MESH:D054506] (1274) |
|
|
Bjornstad syndrome [MESH:C537633] (23) |
|
|
Naxos disease [MESH:C538346] (51) |
|
|
Hypotrichosis simplex [MESH:C537160] (92) |
|
|
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78) |
|
|
Alopecia Areata [MESH:D000506] (168) |
|
|
Keratoacanthoma familial [MESH:C536150] (78) |
|
|
|
|
|
Keratosis Follicularis Spinulosa Decalvans, X-Linked [MESH:C536159] (78) |
|
|
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78) |
|
|
Naxos disease [MESH:C538346] (51) |
|
|
Keratosis palmoplantaris with periodontopathia and onychogryposis [MESH:C537627] (73) |
|
|
|
|
|
Xeroderma Pigmentosum, Complementation Group E [MESH:C564732] (38) |
|
|
Griscelli syndrome type 1 [MESH:C537301] (42) |
|
|
Cafe au lait spots, multiple [MESH:C537421] (102) |
|
|
|
|
|
|
|
|
LEOPARD Syndrome [MESH:D044542] (299) |
|
|
Vitiligo [MESH:D014820] (504) |
|
|
|
|
|
Griscelli syndrome type 1 [MESH:C537301] (42) |
|
|
Xeroderma Pigmentosum, Complementation Group E [MESH:C564732] (38) |
|
|
|
|
|
Muir-Torre Syndrome [MESH:D055653] (102) |
|
|
|
|
|
Acrodermatitis enteropathica [MESH:C538178] (51) |
|
|
Hoyeraal Hreidarsson syndrome [MESH:C536068] (154) |
|
|
Cardiofaciocutaneous syndrome [MESH:C535579] (407) |
|
|
Cranioectodermal Dysplasia [MESH:C562966] (16) |
|
|
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant [MESH:C567411] (533) |
|
|
Keratosis Follicularis Spinulosa Decalvans, X-Linked [MESH:C536159] (78) |
|
|
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78) |
|
|
Capillary Malformation-Arteriovenous Malformation [MESH:C564254] (50) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
Xeroderma Pigmentosum, Complementation Group E [MESH:C564732] (38) |
|
|
Dermatitis, Atopic [MESH:D003876] (2052) |
|
|
Dermatitis, Allergic Contact [MESH:D017449] (3241) |
|
|
Keratosis Follicularis Spinulosa Decalvans, X-Linked [MESH:C536159] (78) |
|
|
Dermatitis, Atopic [MESH:D003876] (2052) |
|
|
Muir-Torre Syndrome [MESH:D055653] (102) |
|
|
Pemphigus, Benign Familial [MESH:D016506] (22) |
|
|
|
|
|
Griscelli syndrome type 1 [MESH:C537301] (42) |
|
|
Hoyeraal Hreidarsson syndrome [MESH:C536068] (154) |
|
|
Cardiofaciocutaneous syndrome [MESH:C535579] (407) |
|
|
Cranioectodermal Dysplasia [MESH:C562966] (16) |
|
|
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant [MESH:C567411] (533) |
|
|
Naxos disease [MESH:C538346] (51) |
|
|
Keratosis palmoplantaris with periodontopathia and onychogryposis [MESH:C537627] (73) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
Xeroderma Pigmentosum, Complementation Group E [MESH:C564732] (38) |
|
|
|
|
|
|
|
|
Leishmaniasis, Cutaneous [MESH:D016773] (2359) |
|
|
|
|
|
Lipodystrophy, Partial, Acquired [MESH:C562448] (26) |
|
|
Lipodystrophy, Familial Partial [MESH:D052496] (589) |
|
|
Lipodystrophy, Congenital Generalized, Type 3 [MESH:C567282] (145) |
|
|
Lichenoid Eruptions [MESH:D017512] (1324) |
|
|
Arthritis, Psoriatic [MESH:D015535] (1859) |
|
|
Urticaria [MESH:D014581] (2668) |
|
|
Pemphigus, Benign Familial [MESH:D016506] (22) |
|
|
Reed's syndrome [MESH:C535516] (27) |
|
|
Muir-Torre Syndrome [MESH:D055653] (102) |
|
 |
C18. Nutritional and Metabolic Diseases |
 |
 |
|
C18. Nutritional and Metabolic Diseases |
|
|
Metabolic Syndrome X [MESH:D024821] (2151) |
|
|
|
|
|
Succinyl-CoA:3-oxoacid CoA transferase deficiency [MESH:C537527] (38) |
|
|
Pyruvate dehydrogenase phosphatase deficiency [MESH:C536258] (40) |
|
|
Finnish lethal neonatal metabolic syndrome [MESH:C537934] (23) |
|
|
Pyruvate Dehydrogenase E2 Deficiency [MESH:C565448] (44) |
|
|
Osteopetrosis with renal tubular acidosis [MESH:C536058] (130) |
|
|
Hepatic Encephalopathy [MESH:D006501] (1795) |
|
|
Kernicterus [MESH:D007647] (256) |
|
|
Mitochondrial Encephalomyopathies [MESH:D017237] (158) |
|
|
Leigh Disease [MESH:D007888] (206) |
|
|
Lesch-Nyhan Syndrome [MESH:D007926] (129) |
|
|
Maple Syrup Urine Disease [MESH:D008375] (127) |
|
|
Tyrosinemias [MESH:D020176] (132) |
|
|
Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333) |
|
|
Alexander Disease [MESH:D038261] (168) |
|
|
Pelizaeus-Merzbacher Disease [MESH:D020371] (103) |
|
|
Fucosidosis [MESH:D005645] (34) |
|
|
Sialic Acid Storage Disease [MESH:D029461] (63) |
|
|
Neuraminidase 1 deficiency [MESH:C537366] (31) |
|
|
Microvillus inclusion disease [MESH:C537470] (28) |
|
|
Fabry Disease [MESH:D000795] (56) |
|
|
Zellweger Syndrome [MESH:D015211] (182) |
|
|
Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67) |
|
|
Pyruvate Dehydrogenase E2 Deficiency [MESH:C565448] (44) |
|
|
Osteopetrosis with renal tubular acidosis [MESH:C536058] (130) |
|
|
HHH syndrome [MESH:C538380] (29) |
|
|
|
|
|
Keutel syndrome [MESH:C536167] (102) |
|
|
Calcification of Joints and Arteries [MESH:C565891] (60) |
|
|
Vascular Calcification [MESH:D061205] (138) |
|
|
Familial benign hypercalcemia, type 3 [MESH:C537147] (18) |
|
|
|
|
|
|
|
|
Vitamin D Hydroxylation-Deficient Rickets, Type 1B [MESH:C564005] (25) |
|
|
Bloom Syndrome [MESH:D001816] (107) |
|
|
Li-Fraumeni Syndrome [MESH:D016864] (859) |
|
|
Lynch syndrome I (site-specific colonic cancer) [MESH:C537261] (130) |
|
|
Fanconi Anemia, Complementation Group I [MESH:C563802] (34) |
|
|
Fanconi Anemia, Complementation Group D1 [MESH:C563980] (68) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
Xeroderma Pigmentosum, Complementation Group E [MESH:C564732] (38) |
|
|
|
|
|
Diabetes Mellitus, Experimental [MESH:D003921] (4771) |
|
|
Diabetes Mellitus, Type 2 [MESH:D003924] (4219) |
|
|
Diabetes, Gestational [MESH:D016640] (1152) |
|
|
Wolcott-Rallison syndrome [MESH:C536739] (92) |
|
|
Glucose Intolerance [MESH:D018149] (605) |
|
|
Hyperinsulinemic Hypoglycemia, Familial, 4 [MESH:C566493] (80) |
|
|
Metabolic Syndrome X [MESH:D024821] (2151) |
|
|
Hyperinsulinemic Hypoglycemia, Familial, 4 [MESH:C566493] (80) |
|
|
Anemia, Iron-Deficiency [MESH:D018798] (547) |
|
|
Hemochromatosis [MESH:D006432] (1694) |
|
|
Finnish lethal neonatal metabolic syndrome [MESH:C537934] (23) |
|
|
Lipomatosis [MESH:D008068] (182) |
|
|
Smith-Lemli-Opitz Syndrome [MESH:D019082] (100) |
|
|
Hypercholesterolemia [MESH:D006937] (1404) |
|
|
Hyperlipoproteinemia Type II [MESH:D006938] (707) |
|
|
Lipodystrophy, Partial, Acquired [MESH:C562448] (26) |
|
|
Lipodystrophy, Familial Partial [MESH:D052496] (589) |
|
|
Lipodystrophy, Congenital Generalized, Type 3 [MESH:C567282] (145) |
|
|
|
|
|
Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946) |
|
|
Ceroid lipofuscinosis, neuronal 8 [MESH:C537952] (28) |
|
|
Ceroid Lipofuscinosis, Neuronal, 6 [MESH:C566627] (20) |
|
|
Fabry Disease [MESH:D000795] (56) |
|
|
Microvillus inclusion disease [MESH:C537470] (28) |
|
|
Celiac Disease [MESH:D002446] (340) |
|
|
Hyperhomocysteinemia [MESH:D020138] (1716) |
|
|
Lactose Intolerance, Adult Type [MESH:C562601] (112) |
|
|
3-Hydroxyacyl-CoA Dehydrogenase Deficiency [MESH:C535310] (80) |
|
|
Finnish lethal neonatal metabolic syndrome [MESH:C537934] (23) |
|
|
Fumaric aciduria [MESH:C538191] (27) |
|
|
Coumarin Resistance [MESH:C563039] (397) |
|
|
Hypoproteinemia, Hypercatabolic [MESH:C565476] (99) |
|
|
Phosphoglycerate Kinase 1 Deficiency [MESH:C567067] (98) |
|
|
Gamma aminobutyric acid transaminase deficiency [MESH:C535407] (61) |
|
|
Methylmalonic acidemia [MESH:C537358] (764) |
|
|
Methylmalonic aciduria cblB type [MESH:C537361] (19) |
|
|
Hyperprolinemia type 2 [MESH:C538385] (39) |
|
|
Hyperhomocysteinemia [MESH:D020138] (1724) |
|
|
Maple Syrup Urine Disease [MESH:D008375] (127) |
|
|
Tyrosinemias [MESH:D020176] (132) |
|
|
|
|
|
Griscelli syndrome type 1 [MESH:C537301] (42) |
|
|
Osteopetrosis with renal tubular acidosis [MESH:C536058] (130) |
|
|
HHH syndrome [MESH:C538380] (29) |
|
|
Corneal dystrophy, gelatinous drop-like [MESH:C535480] (37) |
|
|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type [MESH:C537944] (333) |
|
|
Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333) |
|
|
Leigh Disease [MESH:D007888] (206) |
|
|
Lesch-Nyhan Syndrome [MESH:D007926] (129) |
|
|
Maple Syrup Urine Disease [MESH:D008375] (127) |
|
|
Tyrosinemias [MESH:D020176] (132) |
|
|
Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333) |
|
|
Alexander Disease [MESH:D038261] (168) |
|
|
Pelizaeus-Merzbacher Disease [MESH:D020371] (103) |
|
|
Fucosidosis [MESH:D005645] (34) |
|
|
Sialic Acid Storage Disease [MESH:D029461] (63) |
|
|
Neuraminidase 1 deficiency [MESH:C537366] (31) |
|
|
Microvillus inclusion disease [MESH:C537470] (28) |
|
|
Fabry Disease [MESH:D000795] (56) |
|
|
Zellweger Syndrome [MESH:D015211] (182) |
|
|
Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67) |
|
|
Pyruvate Dehydrogenase E2 Deficiency [MESH:C565448] (44) |
|
|
Osteopetrosis with renal tubular acidosis [MESH:C536058] (130) |
|
|
HHH syndrome [MESH:C538380] (29) |
|
|
Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83) |
|
|
Fucosidosis [MESH:D005645] (34) |
|
|
Congenital disorder of glycosylation type 1C [MESH:C535741] (15) |
|
|
Congenital disorder of glycosylation type 1H [MESH:C535746] (19) |
|
|
Congenital disorder of glycosylation type 1J [MESH:C535748] (17) |
|
|
Glycogen Storage Disease IC [MESH:C562805] (53) |
|
|
Glycogen Storage Disease IB [MESH:C562594] (53) |
|
|
Lactose Intolerance, Adult Type [MESH:C562601] (112) |
|
|
Neuraminidase 1 deficiency [MESH:C537366] (31) |
|
|
Microvillus inclusion disease [MESH:C537470] (28) |
|
|
Mucopolysaccharidosis II [MESH:D016532] (26) |
|
|
Mucopolysaccharidosis III [MESH:D009084] (43) |
|
|
Mucopolysaccharidosis IV [MESH:D009085] (46) |
|
|
Leigh Disease [MESH:D007888] (206) |
|
|
Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67) |
|
|
Pyruvate Dehydrogenase E2 Deficiency [MESH:C565448] (44) |
|
|
Hyperbilirubinemia, Transient Familial Neonatal [MESH:C562692] (254) |
|
|
Gilbert Disease [MESH:D005878] (259) |
|
|
Crigler Najjar syndrome, type 2 [MESH:C536213] (254) |
|
|
Hyperlipoproteinemia Type II [MESH:D006938] (707) |
|
|
Smith-Lemli-Opitz Syndrome [MESH:D019082] (100) |
|
|
|
|
|
Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946) |
|
|
Ceroid lipofuscinosis, neuronal 8 [MESH:C537952] (28) |
|
|
Ceroid Lipofuscinosis, Neuronal, 6 [MESH:C566627] (20) |
|
|
Fabry Disease [MESH:D000795] (56) |
|
|
Lipodystrophy, Congenital Generalized, Type 3 [MESH:C567282] (145) |
|
|
|
|
|
Fucosidosis [MESH:D005645] (34) |
|
|
Sialic Acid Storage Disease [MESH:D029461] (63) |
|
|
Neuraminidase 1 deficiency [MESH:C537366] (31) |
|
|
Microvillus inclusion disease [MESH:C537470] (28) |
|
|
Fabry Disease [MESH:D000795] (56) |
|
|
Mucopolysaccharidosis II [MESH:D016532] (26) |
|
|
Mucopolysaccharidosis III [MESH:D009084] (43) |
|
|
Mucopolysaccharidosis IV [MESH:D009085] (46) |
|
|
Hemochromatosis [MESH:D006432] (1694) |
|
|
Hypophosphatasia, Childhood [MESH:C562440] (137) |
|
|
Hypophosphatasia, Infantile [MESH:C562646] (137) |
|
|
Hypophosphatasia, Adult [MESH:C562647] (137) |
|
|
|
|
|
Vitamin D Hydroxylation-Deficient Rickets, Type 1B [MESH:C564005] (25) |
|
|
Zellweger Syndrome [MESH:D015211] (182) |
|
|
Oroticaciduria 1 [MESH:C537136] (41) |
|
|
Purine Nucleoside Phosphorylase Deficiency [MESH:C562587] (63) |
|
|
Gout [MESH:D006073] (261) |
|
|
Lesch-Nyhan Syndrome [MESH:D007926] (129) |
|
|
|
|
|
Osteopetrosis with renal tubular acidosis [MESH:C536058] (130) |
|
|
|
|
|
Vitamin D Hydroxylation-Deficient Rickets, Type 1B [MESH:C564005] (25) |
|
|
Finnish lethal neonatal metabolic syndrome [MESH:C537934] (23) |
|
|
Smith-Lemli-Opitz Syndrome [MESH:D019082] (100) |
|
|
Mitochondrial complex I deficiency [MESH:C537475] (140) |
|
|
Bjornstad syndrome [MESH:C537633] (23) |
|
|
Finnish lethal neonatal metabolic syndrome [MESH:C537934] (23) |
|
|
Mitochondrial Complex III Deficiency [MESH:C565128] (54) |
|
|
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation [MESH:C567009] (13) |
|
|
Leigh Disease [MESH:D007888] (206) |
|
|
Mitochondrial Encephalomyopathies [MESH:D017237] (1121) |
|
|
Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67) |
|
|
Pyruvate Dehydrogenase E2 Deficiency [MESH:C565448] (44) |
|
|
|
|
|
|
|
|
|
|
|
Vitamin D Hydroxylation-Deficient Rickets, Type 1B [MESH:C564005] (25) |
|
|
|
|
|
Vitamin D Hydroxylation-Deficient Rickets, Type 1B [MESH:C564005] (25) |
|
|
|
|
|
|
|
|
Corneal dystrophy, gelatinous drop-like [MESH:C535480] (37) |
|
|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type [MESH:C537944] (333) |
|
|
Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333) |
|
|
|
|
|
Cerebral Amyloid Angiopathy, App-Related [MESH:C567787] (333) |
|
|
|
|
|
Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559) |
|
|
Amyotrophic Lateral Sclerosis 2, Juvenile [MESH:C565957] (29) |
|
|
Frontotemporal Dementia [MESH:D057180] (298) |
|
|
|
|
|
Lipodystrophy, Partial, Acquired [MESH:C562448] (26) |
|
|
Lipodystrophy, Familial Partial [MESH:D052496] (589) |
|
|
Lipodystrophy, Congenital Generalized, Type 3 [MESH:C567282] (145) |
|
|
HIV Wasting Syndrome [MESH:D019247] (1956) |
|
|
Hypokalemia [MESH:D007008] (1041) |
|
|
Hyponatremia [MESH:D007010] (789) |
|
|
Water Intoxication [MESH:D014869] (106) |
|
|
Familial benign hypercalcemia, type 3 [MESH:C537147] (18) |
|
|
|
|
|
|
|
|
|
|
|
Vitamin A Deficiency [MESH:D014802] (705) |
|
|
Folic Acid Deficiency [MESH:D005494] (134) |
|
|
Hyperhomocysteinemia [MESH:D020138] (1716) |
|
|
|
|
|
|
|
|
|
|
|
Vitamin D Hydroxylation-Deficient Rickets, Type 1B [MESH:C564005] (25) |
|
|
|
|
|
Obesity, Morbid [MESH:D009767] (515) |
|
|
HIV Wasting Syndrome [MESH:D019247] (1956) |
|
 |
C19. Endocrine System Diseases |
 |
 |
|
C19. Endocrine System Diseases |
|
|
Not Fully Specified [NFS] (123) |
|
|
|
|
|
|
|
|
Achalasia Addisonianism Alacrimia syndrome [MESH:C536008] (24) |
|
|
Diabetes, Gestational [MESH:D016640] (1152) |
|
|
Diabetes Mellitus, Experimental [MESH:D003921] (4771) |
|
|
Diabetes Mellitus, Type 2 [MESH:D003924] (4219) |
|
|
Diabetic Cardiomyopathies [MESH:D058065] (1995) |
|
|
Diabetic Nephropathies [MESH:D003928] (2301) |
|
|
Diabetic Neuropathies [MESH:D003929] (2443) |
|
|
Diabetic Retinopathy [MESH:D003930] (1371) |
|
|
Wolcott-Rallison syndrome [MESH:C536739] (92) |
|
|
Rapadilino syndrome [MESH:C535288] (30) |
|
|
Desbuquois syndrome [MESH:C535943] (20) |
|
|
Diastrophic dysplasia [MESH:C536170] (34) |
|
|
Seckel syndrome 1 [MESH:C537533] (63) |
|
|
Seckel syndrome 2 [MESH:C537534] (7) |
|
|
Microcephalic Osteodysplastic Primordial Dwarfism, Type II [MESH:C565898] (7) |
|
|
Three M Syndrome 2 [MESH:C567862] (22) |
|
|
|
|
|
Multiple Endocrine Neoplasia Type 2b [MESH:D018814] (75) |
|
|
Familial medullary thyroid carcinoma [MESH:C536911] (101) |
|
|
Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143) |
|
|
Pancreatic cancer, adult [MESH:C535836] (572) |
|
|
Carcinoma, Pancreatic Ductal [MESH:D021441] (1056) |
|
|
Growth Hormone-Secreting Pituitary Adenoma [MESH:D049912] (383) |
|
|
Prolactinoma [MESH:D015175] (312) |
|
|
|
|
|
Leydig Cell Tumor [MESH:D007984] (267) |
|
|
Familial medullary thyroid carcinoma [MESH:C536911] (101) |
|
|
Thyroid cancer, medullary [MESH:C536914] (74) |
|
|
Puberty, Delayed [MESH:D011628] (449) |
|
|
|
|
|
Hyperandrogenism [MESH:D017588] (98) |
|
|
Androgen-Insensitivity Syndrome [MESH:D013734] (567) |
|
|
Kallmann Syndrome [MESH:D017436] (147) |
|
|
Hyperandrogenism [MESH:D017588] (98) |
|
|
Kallmann Syndrome [MESH:D017436] (147) |
|
|
|
|
|
Polycystic Ovary Syndrome [MESH:D011085] (2186) |
|
|
Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143) |
|
|
|
|
|
|
|
|
Leydig Cell Tumor [MESH:D007984] (267) |
|
|
|
|
|
Hyperparathyroidism, Secondary [MESH:D006962] (1138) |
|
|
Barakat syndrome [MESH:C537907] (71) |
|
|
DiGeorge Syndrome [MESH:D004062] (236) |
|
|
|
|
|
Hyperprolactinemia [MESH:D006966] (603) |
|
|
Panhypopituitarism X-linked [MESH:C538613] (18) |
|
|
Mental Retardation, X-Linked, With Panhypopituitarism [MESH:C567485] (18) |
|
|
Growth Hormone-Secreting Pituitary Adenoma [MESH:D049912] (383) |
|
|
Prolactinoma [MESH:D015175] (312) |
|
|
|
|
|
|
|
|
Graves Ophthalmopathy [MESH:D049970] (165) |
|
|
|
|
|
Graves Ophthalmopathy [MESH:D049970] (165) |
|
|
Familial medullary thyroid carcinoma [MESH:C536911] (101) |
|
|
Thyroid cancer, medullary [MESH:C536914] (74) |
|
 |
C20. Immune System Diseases |
 |
 |
|
C20. Immune System Diseases |
|
|
|
|
|
Arthritis, Juvenile [MESH:D001171] (1060) |
|
|
Arthritis, Rheumatoid [MESH:D001172] (3601) |
|
|
Hepatitis, Autoimmune [MESH:D019693] (1982) |
|
|
Lupus Erythematosus, Systemic [MESH:D008180] (2317) |
|
|
Aicardi-Goutieres Syndrome 4 [MESH:C563681] (39) |
|
|
Multiple Sclerosis [MESH:D009103] (1716) |
|
|
Encephalomyelitis, Autoimmune, Experimental [MESH:D004681] (806) |
|
|
Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172) |
|
|
Wolcott-Rallison syndrome [MESH:C536739] (92) |
|
|
Graves Ophthalmopathy [MESH:D049970] (165) |
|
|
|
|
|
Kernicterus [MESH:D007647] (256) |
|
|
Drug Hypersensitivity [MESH:D004342] (4000) |
|
|
Dermatitis, Allergic Contact [MESH:D017449] (3241) |
|
|
Dermatitis, Atopic [MESH:D003876] (2052) |
|
|
Urticaria [MESH:D014581] (2668) |
|
|
Peanut Hypersensitivity [MESH:D021183] (572) |
|
|
Asthma [MESH:D001249] (3914) |
|
|
Complement component 5 deficiency [MESH:C537005] (55) |
|
|
LIG4 Syndrome [MESH:C564694] (24) |
|
|
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant [MESH:C567411] (533) |
|
|
Acquired Immunodeficiency Syndrome [MESH:D000163] (743) |
|
|
HIV Wasting Syndrome [MESH:D019247] (1956) |
|
|
AIDS-related Kaposi sarcoma [MESH:C554498] (914) |
|
|
|
|
|
Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant [MESH:C567925] (283) |
|
|
Hypergammaglobulinemia [MESH:D006942] (137) |
|
|
Giant Lymph Node Hyperplasia [MESH:D005871] (1013) |
|
|
Multiple Myeloma [MESH:D009101] (2767) |
|
|
Leukemia, T-Cell [MESH:D015458] (395) |
|
|
Leukemia, Lymphocytic, Chronic, B-Cell [MESH:D015451] (2562) |
|
|
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D015452] (354) |
|
|
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054218] (510) |
|
|
Lymphangioleiomyomatosis [MESH:D018192] (162) |
|
|
Hodgkin Disease [MESH:D006689] (1082) |
|
|
Burkitt Lymphoma [MESH:D002051] (691) |
|
|
Lymphoma, Follicular [MESH:D008224] (1025) |
|
|
Burkitt Lymphoma [MESH:D002051] (691) |
|
|
Lymphoma, Large B-Cell, Diffuse [MESH:D016403] (2012) |
|
|
Lymphoma, Large-Cell, Anaplastic [MESH:D017728] (420) |
|
|
Multiple Myeloma [MESH:D009101] (2765) |
|
 |
C22. Animal Diseases |
 |
 |
|
C22. Animal Diseases |
|
|
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 |
|
|
Plaque, Amyloid [MESH:D058225] (334) |
|
|
Plaque, Atherosclerotic [MESH:D058226] (696) |
|
|
Ventricular Remodeling [MESH:D020257] (686) |
|
|
Chudley-Mccullough syndrome [MESH:C535459] (45) |
|
|
Proud Syndrome [MESH:C563110] (12) |
|
|
Corpus Callosum, Partial Agenesis of, X-Linked [MESH:C564115] (37) |
|
|
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78) |
|
|
Muscular Atrophy [MESH:D009133] (1234) |
|
|
Van der Woude syndrome [MESH:C536528] (33) |
|
|
Hernia, Diaphragmatic [MESH:D006548] (2647) |
|
|
Parietal Foramina With Cleidocranial Dysplasia [MESH:C566825] (36) |
|
|
Parietal Foramina [MESH:C566826] (42) |
|
|
Hepatomegaly [MESH:D006529] (1169) |
|
|
Splenomegaly [MESH:D013163] (1258) |
|
|
Hypertrophy, Left Ventricular [MESH:D017379] (1430) |
|
|
Anonychia congenita [MESH:C536377] (69) |
|
|
Intestinal Polyps [MESH:D007417] (1592) |
|
|
Emphysema [MESH:D004646] (1096) |
|
|
Gliosis [MESH:D005911] (1419) |
|
|
Hyperplasia [MESH:D006965] (2463) |
|
|
Lithiasis [MESH:D020347] (345) |
|
|
Muscle Weakness [MESH:D018908] (478) |
|
|
Nerve Degeneration [MESH:D009410] (4061) |
|
|
Ulcer [MESH:D014456] (392) |
|
|
Atrial Fibrillation [MESH:D001281] (1053) |
|
|
Bradycardia [MESH:D001919] (1899) |
|
|
Long QT Syndrome [MESH:D008133] (691) |
|
|
Tachycardia [MESH:D013610] (3339) |
|
|
Chromosomal Instability [MESH:D043171] (67) |
|
|
Chromosome Breakage [MESH:D019457] (139) |
|
|
|
|
|
|
|
|
Chromosome 3, monosomy 3p25 [MESH:C536807] (76) |
|
|
Kleefstra Syndrome [MESH:C563043] (25) |
|
|
Embryo Loss [MESH:D020964] (288) |
|
|
|
|
|
Sudden Infant Death with Dysgenesis of the Testes Syndrome [MESH:C563856] (16) |
|
|
Fetal Resorption [MESH:D005327] (302) |
|
|
Critical Illness [MESH:D016638] (296) |
|
|
Disease Progression [MESH:D018450] (2868) |
|
|
Recurrence [MESH:D012008] (830) |
|
|
Genetic Predisposition to Disease [MESH:D020022] (966) |
|
|
Cardiofaciocutaneous syndrome [MESH:C535579] (407) |
|
|
Macrocephaly Autism Syndrome [MESH:C565342] (151) |
|
|
|
|
|
Keloid [MESH:D007627] (1110) |
|
|
Chromosomal Instability [MESH:D043171] (67) |
|
|
Meier-Gorlin syndrome [MESH:C538012] (133) |
|
|
LIG4 Syndrome [MESH:C564694] (24) |
|
|
Spondyloepimetaphyseal Dysplasia, Pakistani Type [MESH:C567551] (63) |
|
|
Hoyeraal Hreidarsson syndrome [MESH:C536068] (154) |
|
|
Finnish lethal neonatal metabolic syndrome [MESH:C537934] (23) |
|
|
Microcephalic Osteodysplastic Primordial Dwarfism, Type II [MESH:C565898] (7) |
|
|
Shock, Hemorrhagic [MESH:D012771] (2042) |
|
|
Subarachnoid Hemorrhage [MESH:D013345] (1081) |
|
|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type [MESH:C537944] (333) |
|
|
|
|
|
Purpura, Thrombotic Thrombocytopenic [MESH:D011697] (222) |
|
|
HHH syndrome [MESH:C538380] (29) |
|
|
Kernicterus [MESH:D007647] (256) |
|
|
Hyperbilirubinemia, Transient Familial Neonatal [MESH:C562692] (254) |
|
|
Neurogenic Inflammation [MESH:D020078] (2246) |
|
|
|
|
|
Shock, Septic [MESH:D012772] (1830) |
|
|
Endotoxemia [MESH:D019446] (1289) |
|
|
Infarction [MESH:D007238] (298) |
|
|
No-Reflow Phenomenon [MESH:D054318] (277) |
|
|
Amenorrhea [MESH:D000568] (817) |
|
|
Dysmenorrhea [MESH:D004412] (189) |
|
|
|
|
|
Choroidal Neovascularization [MESH:D020256] (550) |
|
|
Infarction [MESH:D007238] (298) |
|
|
Neoplasm Invasiveness [MESH:D009361] (3388) |
|
|
Neoplasm Recurrence, Local [MESH:D009364] (1949) |
|
|
Neoplasm, Residual [MESH:D018365] (478) |
|
|
Cell Transformation, Neoplastic [MESH:D002471] (3389) |
|
|
Lymphatic Metastasis [MESH:D008207] (917) |
|
|
Desbuquois syndrome [MESH:C535943] (20) |
|
|
|
|
|
Myocardial Reperfusion Injury [MESH:D015428] (3500) |
|
|
Multiple Organ Failure [MESH:D009102] (1836) |
|
|
Shock, Hemorrhagic [MESH:D012771] (2042) |
|
|
Shock, Septic [MESH:D012772] (1830) |
|
|
Asthenia [MESH:D001247] (376) |
|
|
Cyanosis [MESH:D003490] (288) |
|
|
Feminization [MESH:D005262] (655) |
|
|
Fetal Distress [MESH:D005316] (99) |
|
|
Flushing [MESH:D005483] (506) |
|
|
Hypergammaglobulinemia [MESH:D006942] (105) |
|
|
Fever [MESH:D005334] (2856) |
|
|
Hypothermia [MESH:D007035] (2075) |
|
|
|
|
|
Weight Gain [MESH:D015430] (2595) |
|
|
|
|
|
Cachexia [MESH:D002100] (2283) |
|
|
|
|
|
Obesity, Morbid [MESH:D009767] (515) |
|
|
Edema, Cardiac [MESH:D004489] (27) |
|
|
Cardiofaciocutaneous syndrome [MESH:C535579] (407) |
|
|
Gait Disorders, Neurologic [MESH:D020233] (491) |
|
|
Catalepsy [MESH:D002375] (1429) |
|
|
Hyperkinesis [MESH:D006948] (1799) |
|
|
Hypokinesia [MESH:D018476] (279) |
|
|
Psychomotor Agitation [MESH:D011595] (210) |
|
|
Partington X-linked mental retardation syndrome [MESH:C536300] (12) |
|
|
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract [MESH:C567203] (27) |
|
|
Apraxias [MESH:D001072] (114) |
|
|
Lethargy [MESH:D053609] (1035) |
|
|
Learning Disorders [MESH:D007859] (2727) |
|
|
Language Development Disorders [MESH:D007805] (351) |
|
|
Aphasia [MESH:D001037] (219) |
|
|
|
|
|
Coma [MESH:D003128] (492) |
|
|
Amnesia [MESH:D000647] (1911) |
|
|
MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome [MESH:C536029] (37) |
|
|
Hoyeraal Hreidarsson syndrome [MESH:C536068] (154) |
|
|
Kleefstra Syndrome [MESH:C563043] (25) |
|
|
Proud Syndrome [MESH:C563110] (12) |
|
|
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23) |
|
|
Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65) |
|
|
Mental Retardation, Autosomal Recessive 4 [MESH:C567008] (3) |
|
|
Mental Retardation, X-Linked, With Panhypopituitarism [MESH:C567485] (18) |
|
|
Fumaric aciduria [MESH:C538191] (27) |
|
|
Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83) |
|
|
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy [MESH:C567020] (21) |
|
|
Apraxias [MESH:D001072] (118) |
|
|
Psychomotor Agitation [MESH:D011595] (167) |
|
|
Muscle Weakness [MESH:D018908] (478) |
|
|
Muscular Atrophy [MESH:D009133] (1234) |
|
|
Spasm [MESH:D013035] (418) |
|
|
|
|
|
Spastic ataxia Charlevoix-Saguenay type [MESH:C536787] (37) |
|
|
Fumaric aciduria [MESH:C538191] (27) |
|
|
Three M Syndrome 2 [MESH:C567862] (22) |
|
|
Headache [MESH:D006261] (1417) |
|
|
Neuralgia [MESH:D009437] (2074) |
|
|
Quadriplegia [MESH:D011782] (115) |
|
|
Oculootoradial syndrome [MESH:C535544] (14) |
|
|
Supranuclear Palsy, Progressive [MESH:D013494] (235) |
|
|
Reflex, Babinski [MESH:D001405] (97) |
|
|
Partington X-linked mental retardation syndrome [MESH:C536300] (12) |
|
|
Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83) |
|
|
Taste Disorders [MESH:D013651] (461) |
|
|
|
|
|
|
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e [MESH:C566136] (76) |
|
|
Oculootoradial syndrome [MESH:C535544] (14) |
|
|
Chudley-Mccullough syndrome [MESH:C535459] (45) |
|
|
Griscelli syndrome type 1 [MESH:C537301] (42) |
|
|
Bjornstad syndrome [MESH:C537633] (23) |
|
|
Barakat syndrome [MESH:C537907] (71) |
|
|
Deafness, Autosomal Dominant 9 [MESH:C563335] (33) |
|
|
Deafness, Autosomal Recessive 37 [MESH:C564331] (35) |
|
|
Deafness, Autosomal Recessive 28 [MESH:C565218] (26) |
|
|
Hearing Loss, Noise-Induced [MESH:D006317] (134) |
|
|
Auditory Neuropathy, Autosomal Dominant, 1 [MESH:C563790] (92) |
|
|
Hyperalgesia [MESH:D006930] (3929) |
|
|
Paresthesia [MESH:D010292] (416) |
|
|
Headache [MESH:D006261] (1417) |
|
|
Neuralgia [MESH:D009437] (2074) |
|
|
|
|
|
Acute Coronary Syndrome [MESH:D054058] (2286) |
|
|
Angina, Stable [MESH:D060050] (1702) |
|
|
Toothache [MESH:D014098] (46) |
|
|
Dysmenorrhea [MESH:D004412] (189) |
|
|
Anorexia [MESH:D000855] (854) |
|
|
Diarrhea [MESH:D003967] (858) |
|
|
Hyperphagia [MESH:D006963] (206) |
|
|
Nausea [MESH:D009325] (2300) |
|
|
Anoxia [MESH:D000860] (1698) |
|
|
Hyperoxia [MESH:D018496] (694) |
|
|
Hyperventilation [MESH:D006985] (652) |
|
|
Congenital central hypoventilation syndrome [MESH:C536209] (341) |
|
|
Pruritus [MESH:D011537] (648) |
|
|
Cafe au lait spots, multiple [MESH:C537421] (102) |
|
|
|
|
|
Purpura, Thrombotic Thrombocytopenic [MESH:D011697] (222) |
|
|
Polyuria [MESH:D011141] (279) |
|
|
Urinary Bladder, Overactive [MESH:D053201] (530) |
|
|
Albuminuria [MESH:D000419] (2394) |
|
|
CD59 Deficiency [MESH:C567355] (57) |
|
 |
C24. Occupational Diseases |
 |
 |
|
C24. Occupational Diseases |
|
|
Not Fully Specified [NFS] (1530) |
|
|
|
|
|
Berylliosis [MESH:D001607] (2005) |
|
|
Silicosis [MESH:D012829] (1273) |
|
 |
C25. Chemically-Induced Disorders |
 |
 |
|
C25. Chemically-Induced Disorders |
|
|
Drug Hypersensitivity [MESH:D004342] (4001) |
|
|
Drug-Induced Liver Injury [MESH:D056486] (4936) |
|
|
Arsenic Poisoning [MESH:D020261] (2540) |
|
|
Cadmium Poisoning [MESH:D002105] (180) |
|
|
Drug-Induced Liver Injury [MESH:D056486] (4936) |
|
|
Manganese Poisoning [MESH:D020149] (2214) |
|
|
Psychoses, Substance-Induced [MESH:D011605] (2053) |
|
|
Water Intoxication [MESH:D014869] (106) |
|
|
|
|
|
Alcohol Withdrawal Seizures [MESH:D020270] (64) |
|
|
Amphetamine-Related Disorders [MESH:D019969] (2858) |
|
|
Cocaine-Related Disorders [MESH:D019970] (3054) |
|
|
Marijuana Abuse [MESH:D002189] (1132) |
|
|
Opioid-Related Disorders [MESH:D009293] (1491) |
|
|
Phencyclidine Abuse [MESH:D010623] (288) |
|
|
Psychoses, Substance-Induced [MESH:D011605] (2052) |
|
|
Tobacco Use Disorder [MESH:D014029] (628) |
|
|
Alcoholism [MESH:D000437] (1519) |
|
|
|
|
|
Alcohol Withdrawal Seizures [MESH:D020270] (64) |
|
|
Hepatitis, Alcoholic [MESH:D006519] (1613) |
|
|
Liver Cirrhosis, Alcoholic [MESH:D008104] (3066) |
|
|
Alcohol Withdrawal Seizures [MESH:D020270] (64) |
|
 |
C26. Wounds and Injuries |
 |
 |
|
C26. Wounds and Injuries |
|
|
Not Fully Specified [NFS] (2454) |
|
|
Burns [MESH:D002056] (2565) |
|
|
Heat Stress Disorders [MESH:D018882] (226) |
|
|
Vascular System Injuries [MESH:D057772] (2086) |
|
|
Brain Injuries [MESH:D001930] (3431) |
|
|
Femoral Fractures [MESH:D005264] (137) |
|
|
Femoral Fractures [MESH:D005264] (137) |
|
|
Radiation Injuries, Experimental [MESH:D011833] (2662) |
|
|
Aortic Rupture [MESH:D001019] (637) |
|
|
Spinal Cord Compression [MESH:D013117] (1800) |
|
|
Lung Injury [MESH:D055370] (1814) |
|
|
|
|
|
Brain Injuries [MESH:D001930] (3431) |
|
 |
D03. Heterocyclic Compounds |
 |
 |
|
D03. Heterocyclic Compounds |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Coumestrol [MESH:D003375] (3) |
|
|
Coumestrol [MESH:D003375] (3) |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Coumestrol [MESH:D003375] (3) |
|
|
Coumestrol [MESH:D003375] (3) |
|
 |
E. Analytical, Diagnostic and Therapeutic Techniques and Equipment |
 |
 |
|
E. Analytical, Diagnostic and Therapeutic Techniques and Equipment |
|
|
|
|
|
|
|
|
|
|
|
Cardiofaciocutaneous syndrome [MESH:C535579] (407) |
|
|
Macrocephaly Autism Syndrome [MESH:C565342] (151) |
|
 |
F. Psychiatry and Psychology |
 |
 |
|
F. Psychiatry and Psychology |
|
|
|
|
|
|
|
|
MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome [MESH:C536029] (37) |
|
|
Hoyeraal Hreidarsson syndrome [MESH:C536068] (154) |
|
|
Kleefstra Syndrome [MESH:C563043] (25) |
|
|
Proud Syndrome [MESH:C563110] (12) |
|
|
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23) |
|
|
Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65) |
|
|
Mental Retardation, Autosomal Recessive 4 [MESH:C567008] (3) |
|
|
Mental Retardation, X-Linked, With Panhypopituitarism [MESH:C567485] (18) |
|
|
Fumaric aciduria [MESH:C538191] (27) |
|
|
Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83) |
|
|
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy [MESH:C567020] (21) |
|
|
|
|
|
|
|
|
|
|
|
Macrocephaly Autism Syndrome [MESH:C565342] (151) |
|
|
MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome [MESH:C536029] (37) |
|
|
Hoyeraal Hreidarsson syndrome [MESH:C536068] (154) |
|
|
Kleefstra Syndrome [MESH:C563043] (25) |
|
|
Proud Syndrome [MESH:C563110] (12) |
|
|
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23) |
|
|
Cleft Palate, Isolated, And Mental Retardation [MESH:C566991] (65) |
|
|
Mental Retardation, Autosomal Recessive 4 [MESH:C567008] (3) |
|
|
Mental Retardation, X-Linked, With Panhypopituitarism [MESH:C567485] (18) |
|
 |
G. Phenomena and Processes |
 |
 |
|
G. Phenomena and Processes |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Chromosome 3, monosomy 3p25 [MESH:C536807] (76) |
|
|
Kleefstra Syndrome [MESH:C563043] (25) |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Chromosome 3, monosomy 3p25 [MESH:C536807] (76) |
|
|
|
|
|
Kleefstra Syndrome [MESH:C563043] (25) |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Chromosome 3, monosomy 3p25 [MESH:C536807] (76) |
|
|
Kleefstra Syndrome [MESH:C563043] (25) |
|
|
|
|
|
|
|
|
|
|
|
Chromosome 3, monosomy 3p25 [MESH:C536807] (76) |
|
|
Kleefstra Syndrome [MESH:C563043] (25) |
|
|
Mosaic variegated aneuploidy syndrome [MESH:C536987] (95) |
|
|
|
|
|
Chromosome 3, monosomy 3p25 [MESH:C536807] (76) |
|
|
Kleefstra Syndrome [MESH:C563043] (25) |
|
|
|
|
|
|
|
|
|
|
|
Chromosome 3, monosomy 3p25 [MESH:C536807] (76) |
|
|
Kleefstra Syndrome [MESH:C563043] (25) |
|
 |