Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound

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Query: UMLS:C0026827 (hypotonia)
5,860 document(s) hit in 31,850,051 MEDLINE articles (0.01 seconds) .

Concepts found in the documents ranked by [ Frequency | Pointwise Mutual Information | Symmetric Conditional Probability ] .

Human Gene/Protein PREPL 0.002 MTM1 0.002 merosin 0.001 Prolyl endopeptidase-like 0.001 NALCN 0.001 X-linked 0.001 AHDC1 0.001 C2orf34 0.001 UNC80 0.001 PIGN 0.001 RASGEF1B 0.001 MAGEL2 0.001 strabismus 0.001 FAM36A 0.001 ACTA1 0.000 MECP2 0.000 SHANK3 0.000 PIGT 0.000 AHI1 0.000 PIGK 0.000 myotubularin 0.000 OCRL 0.000 MED13L 0.000 FBXL4 0.000 purine-rich element binding protein A 0.000 solute carrier family 25, member 12 0.000 CDKL5 0.000 SUCLA2 0.000 MIM 0.000 LAMA2 0.000 Succinic semialdehyde dehydrogenase 0.000 AP4B1 0.000 CDG Ia 0.000 ASXL3 0.000 SLC3A1 0.000 SNRPN 0.000 EHMT1 0.000 HIBCH 0.000 RAI1 0.000 SLC16A2 0.000 LMOD3 0.000 IOSCA 0.000 PIBF1 0.000 ENOPH1 0.000 OCRL1 0.000 SLC6A9 0.000 NPHP1 0.000 X-linked recessive 0.000 monocarboxylate transporter 8 0.000 biotinidase 0.000 VPS13B 0.000 EDS VI 0.000 PMM2 0.000 Deoxyguanosine kinase 0.000 PWS 0.000 PPM1B 0.000 ALG9 0.000 microtubule associated serine/threonine kinase 1 0.000 guanine nucleotide binding protein (G protein), alpha 11 (Gq class) 0.000 mediator complex subunit 13-like 0.000 LYSMD3 0.000 JBTS6 0.000 COX15 homolog 0.000 TBCK 0.000 SMAX2 0.000 E(sp1) homolog, Drosophila 0.000 MRPS14 0.000 GNAO1 protein 0.000 phosphatidylinositol glycan class S 0.000 C14orf23 0.000 NDUFV2 protein 0.000 COX7a-related protein 0.000 FAM149B1 0.000 FISH 0.000 SEPN1 0.000 ATAD3A protein 0.000 phosphomannomutase 2 0.000 OTUD7A 0.000 CMTX5 0.000 TBC1 0.000 IQSEC2 0.000 SUCLG1 0.000 B3GALT6 0.000 MTMR10 0.000 Sotos syndrome 0.000 HNRNPH2 0.000 ZNF274 0.000 PURA 0.000 She 0.000 ATP8A2 0.000 aspartoacylase 0.000 DBX2 0.000 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 0.000 ZDHHC23 0.000 TMEM160 0.000 ORC4L 0.000 EARS2 protein 0.000 EARS2 0.000 COPS4 0.000 SCO cytochrome oxidase deficient homolog 2 (yeast) 0.000 PRR12 0.000 low molecular mass ubiquinone-binding protein 0.000 CCDC47 0.000 peptide chain release factor 3 0.000 SERAC1 protein 0.000 COH1 0.000 patched domain containing 1 0.000 MGC57346 0.000 KIAA0753 0.000 GNB5 0.000 TMTC3 0.000 SRD5A3 0.000 KIAA1267 0.000 ALG6 0.000 MRI 0.000 ARSA 0.000 JKTBP1 0.000 DGUOK 0.000 Rett syndrome 0.000 POMGnT1 0.000 PIGU 0.000 ATAD3C 0.000 ZNF462 0.000 3-methylglutaconyl-CoA hydratase 0.000 AP1S2 0.000 PDHA1 0.000 lysyl hydroxylase 1 0.000 ZNF407 0.000 choline kinase beta 0.000 p11 0.000 ETHE1 0.000 LYPD6B 0.000 LOC440944 0.000 KIAA1715 0.000 RACGAP1P 0.000 OGDH protein 0.000 adenylosuccinate lyase 0.000 Netrin-G2 0.000 B9 protein 0.000 F-box and leucine-rich repeat protein 4 0.000 OCRL-1 protein 0.000 THUMPD3 0.000 Sepiapterin Reductase 0.000 KIAA2018 0.000 Phosphoribosyl pyrophosphate synthetase 1 0.000 galactosidase, beta 1 0.000 SLC6A8 0.000 acid alpha-glucosidase 0.000 fukutin 0.000 OCRL-1 0.000 KIAA1018 0.000 STRADA 0.000 ARCL 0.000 small nuclear ribonucleoprotein polypeptide N 0.000 ALG12 0.000 RYR1 0.000 CC2D2A 0.000 NGLY1 0.000 SLC17A5 0.000 SNURF 0.000 fukutin-related protein 0.000 KAT6A 0.000 MPV17 0.000 VARS2 0.000 SH3BGR 0.000 RABL2B 0.000 CNM 0.000 DPAGT1 0.000 HNRPU 0.000 TSEN34 0.000 RBM10 protein 0.000 EFCAB2 0.000 laminin alpha 5 chain 0.000 C11orf83 0.000 Methylmalonate semialdehyde dehydrogenase 0.000 MKS6 0.000 asparagine-linked glycosylation 6 0.000 nebulin-related anchoring protein 0.000 ARALAR 0.000 TMEM161B 0.000 BEND2 0.000 SUMF1 protein 0.000 AMZ1 0.000 ALDH5A1 0.000 RRM2B 0.000 MKRN3 0.000 VCX-A 0.000 EXOSC3 0.000 B4GALT7 0.000 glutaryl-CoA dehydrogenase 0.000 TNNT1 0.000 XLIS 0.000 PEX1 0.000 ALG13 0.000 PIGA 0.000 Fukuyama-type congenital muscular dystrophy 0.000 KLHL7 0.000 GATAD2B 0.000 Oculocerebrorenal syndrome of Lowe 0.000 NADH-coenzyme Q reductase 0.000 ADSL 0.000 ZNF124 0.000 SLC25A12 0.000 ARD1A 0.000 CCDC78 0.000 PMPCA 0.000 DPM2 0.000 OXA1L 0.000 Succinate semialdehyde dehydrogenase 0.000 P54NRB 0.000 SPTBN4 0.000 USP9X protein 0.000 ZMYND11 0.000 ARMC9 0.000 ITPR1 0.000 AP4S1 0.000 GCSH 0.000 MRPS22 0.000 ATAD3B 0.000 POMT1 0.000 GNAO1 0.000 HSD17B4 0.000 SLC25A1 0.000 PGAP3 0.000 MBD5 0.000 RAB3GAP1 0.000 PIGS 0.000 GCP5 0.000 IGHMBP2 0.000 CHRNA7 0.000 ARL13B 0.000 MKS3 0.000 lysyl hydroxylase 0.000 MED12L 0.000 dystrobrevin alpha 0.000 CMH2 0.000 NFASC 0.000 TARS2 0.000 PAPOLG 0.000 LYPD6 0.000 FARSB 0.000 ATP9B 0.000 taspase 1 0.000 SLC35A2 0.000 KPTN 0.000 MAP1LC3B2 0.000 cGKII 0.000 INTU 0.000 AP4E1 0.000 chromosome 21 0.000 necdin 0.000 PRPS1 0.000 PLA2G6 0.000 SLC25A3 0.000 D-2-hydroxyglutarate dehydrogenase 0.000 KIAA2022 0.000 ATAD3A 0.000 inositol polyphosphate 5-phosphatase 0.000 MED13 0.000 phosphomannomutase 0.000 ZBTB20 0.000 SURF1 0.000 PIGO 0.000 PPP2R5D 0.000 DPM3 0.000 SUCLG2 0.000 ATP6V0A2 0.000 COX19 0.000 ASCC1 0.000 LSFC 0.000 RAB11B 0.000 TUBA3 0.000 TCTN3 0.000 PPEF1 0.000 EFCAB4B 0.000 TCTEX1D2 0.000 SEZ6L2 0.000 POMT2 0.000 putative tyrosine phosphatase 0.000 ORNT2 0.000 TSPY-like 1 0.000 vacuolar protein sorting 33B 0.000 dihydroxyacetone phosphate acyltransferase 0.000 NSD1 0.000 UQCRB 0.000 TBC1D20 0.000 GPAA1 0.000 COG7 0.000 TPM3 0.000 PEX16 0.000 SSADH 0.000 creatine kinase 0.000 CSNK2A1 0.000 Barth syndrome 0.000 PGAP2 0.000 SLC12A6 0.000 DIP2C 0.000 TSPAN9 0.000 ZC3H4 0.000 EPS15L1 0.000 beta-galactoside alpha-2,3-sialyltransferase 0.000 CHST12 0.000 YPEL3 0.000 Junctional adhesion molecule 4 0.000 PARP11 0.000 FAM19A1 0.000 PARS2 0.000 RAB33A 0.000 Dihydropyridine receptor 0.000 THOC2 0.000 sodium leak channel, non-selective 0.000 SSR4 0.000 NXF5 0.000 TALDO1 0.000 DLAT 0.000 NIPA2 0.000 RARS2 0.000 ADAT3 0.000 Lysyl hydroxylase 0.000 PEX12 0.000 oligophrenin-1 0.000 NEB 0.000 holocarboxylase synthetase 0.000 GAA 0.000 C10orf2 0.000 FARS2 0.000 PRS I 0.000 OFD 0.000 SLC25A42 0.000 MSTO1 0.000 RABGAP1 0.000 AMP deaminase 1 0.000 GFM1 0.000 Activating signal cointegrator 1 0.000 CPLX3 0.000 FIGN 0.000 SPPL2c 0.000 THOC6 0.000 THOC7 0.000 BARHL1 0.000 NTNG2 0.000 SCRG1 0.000 CXorf6 0.000 RPGRIP1L 0.000 KMT2D 0.000 SLC4A10 0.000 ZNF469 0.000 DEAF1 0.000 PIGV 0.000 GPI transamidase 0.000 LONP1 0.000 PYCR1 0.000 Abelson helper integration site 1 0.000 pyruvate dehydrogenase complex 0.000 methyl CpG binding protein 2 0.000 FKBP22 0.000 UGDH 0.000 UBE3B 0.000 CACNA1E 0.000 TTYH3 0.000 CCDC115 0.000 glutaryl CoA dehydrogenase 0.000 OTUD6B 0.000 TCTN2 0.000 PCDHG 0.000 microtubule-actin crosslinking factor 1 0.000 PCDHA 0.000 TRIP4 0.000 CRTR 0.000 KCTD3 0.000 ZNF207 0.000 C10orf11 0.000 Serine proteinase inhibitor 0.000 POPDC3 0.000 PCWH 0.000 DNAJC12 0.000 3-hydroxyisobutyryl-CoA hydrolase 0.000 ATP2B3 0.000 6-pyruvoyl-tetrahydropterin synthase 0.000 ALG3 0.000 glutamate carrier 0.000 NRG-2 0.000 DNM1L 0.000 BCS1L 0.000 TAZ1 0.000 SETD5 0.000 COX15 0.000 DYNC2LI1 0.000 CDC42BPB 0.000 LARGE2 0.000 SORCS3 0.000 EXOSC9 0.000 NFAM1 0.000 FBXO28 0.000 COX7RP 0.000 LANCL1 0.000 CEP170 0.000 KIAA1279 0.000 CRYA1 0.000 PIGL 0.000 B9D1 0.000 leucine-rich repeat kinase 1 0.000 TMEM216 0.000 TSEN2 0.000 glycine decarboxylase 0.000 succinic semialdehyde dehydrogenase 0.000 CLCF1 0.000 EBF3 0.000 PRKD1 0.000 DARS2 0.000 MTMR2 0.000 proteolipid protein 1 0.000 NDUFB8 0.000 AGC1 0.000 SPTBN2 0.000 GABRB3 0.000 COLQ 0.000 MAPK8IP2 0.000 sulfatase modifying factor 1 0.000 TB3-1 0.000 KIAA0586 0.000 LETM1 0.000 ocrl1 0.000 MRPP1 0.000 ZNHIT3 0.000 GNB4 0.000 hnRNP D 0.000 KANK1 0.000 Myotubularin 0.000 MEF2C 0.000 RPS6KA3 0.000 long chain acyl-CoA dehydrogenase 0.000 short-chain acyl-CoA dehydrogenase 0.000 GRID2 0.000 spermine synthase 0.000 ATP7A 0.000 guanidinoacetate methyltransferase 0.000 sepiapterin reductase 0.000 Fibrillin 1 0.000 C5orf42 0.000 INPP5K 0.000 G5PR 0.000 BRWD3 0.000 RSRC1 0.000 NME3 0.000 IL1RAPL2 0.000 EIF2AK1 0.000 TSHZ1 0.000 GCDH 0.000 RERE 0.000 cytochrome c oxidase 0.000 MEIS2 0.000 MKS1 0.000 PDHB 0.000 NFIX 0.000 CEP290 0.000 RUSC2 0.000 TGF-beta activated kinase 1 0.000 MEB 0.000 KIF27 0.000 NETO1 0.000 galactosyltransferase II 0.000 GPI anchor biosynthesis 0.000 ARFRP1 0.000 protein phosphatase 1B 0.000 CAPZA2 0.000 MARS2 0.000 HECW2 0.000 VPS52 0.000 RIN2 0.000 RMND1 0.000 XKR6 0.000 PCDH8 0.000 MTMR1 0.000 HNRNPK 0.000 GNB1 0.000 glyceronephosphate O-acyltransferase 0.000 p13 0.000 DAG 0.000 ACO2 0.000 ATP1A3 0.000 KDM6A 0.000 OPHN1 0.000 DPM1 0.000 DOK7 0.000 Shank3 0.000 MTND4 0.000 amphiphysin II 0.000 NUP188 0.000 NDUFB6 0.000 PRUNE 0.000 UAGT 0.000 srGAP3 0.000 B3GAT3 0.000 NDUFA8 0.000 DCHS1 0.000 B3GALT5 0.000 PNPLA4 0.000 mitochondrial 3-oxoacyl-CoA thiolase 0.000 PNPLA8 0.000 B3GALNT2 0.000 SH3PXD2B 0.000 PELO 0.000 DCR2 0.000 SLC7A7 0.000 LIS1 0.000 COUP-TF 0.000 SPTAN1 0.000 nebulin 0.000 MED12 0.000 KARS 0.000 LIN54 0.000 CACH 0.000 LAMM 0.000 ARHGAP11B 0.000 VPS54 0.000 PARVB 0.000 WDR19 0.000 FLAD1 0.000 KANK 0.000 Br140 0.000 MAP2K2 0.000 WAC 0.000 autosomal recessive) 0.000 Biotinidase 0.000 MTM 0.000 L-3-hydroxyacyl-CoA dehydrogenase 0.000 MED23 0.000 WRP 0.000 SCO2 0.000 TRNT1 0.000 DRG2 0.000 NPAS1 0.000 ALG11 0.000 NDUFA2 0.000 aconitase 2 0.000 PACS1 0.000 KIF26B 0.000 GSPT2 0.000 SC5D 0.000 TRAP240 0.000 LARGE1 0.000 myopalladin 0.000 UBTF 0.000 TTC21B 0.000 MED17 0.000 AVEN 0.000 VIT1 0.000 SURF-1 0.000 ALDH5 0.000 CCDC40 0.000 COG5 0.000 POLR3G 0.000 KCNMB4 0.000 GSCL 0.000 CLCN6 0.000 ADK 0.000 Trio 0.000 PDHC 0.000 CHRNE 0.000 cblF 0.000 BCS1 0.000 PCNT 0.000 p22 0.000 p23 0.000 VPS11 0.000 INPP5B 0.000 USP34 0.000 ornithine decarboxylase 1 0.000 TANC2 0.000 Sepiapterin reductase 0.000 SLC35C1 0.000 SBF1 0.000 PMM1 0.000 alpha-1,2-mannosyltransferase 0.000 ALDH6A1 0.000 PIGH 0.000 Sbf1 0.000 PTCHD1 0.000 SLC9A6 0.000 SRMS 0.000 MAST1 0.000 PGAP1 0.000 PSMD11 0.000 TAO1 0.000 VPS53 0.000 ALD 0.000 SIM1 0.000 Pyruvate dehydrogenase 0.000 MMACHC 0.000 PEX10 0.000 WHS 0.000 Rab3-GAP 0.000 ACADSB 0.000 VCX 0.000 COQ4 0.000 HM5 0.000 ZBTB46 0.000 TSPYL1 0.000 SERAC1 0.000 Cep120 0.000 GLYT1 0.000 MRPP3 0.000 HSCO 0.000 DUBA 0.000 GLRX 0.000 neuronal growth regulator 1 0.000 acyl-CoA dehydrogenase 0.000 TK2 0.000 SCO1 0.000 BF2 0.000 SCD5 0.000 GluRS 0.000 KLF7 0.000 GNB2 0.000 STAC3 0.000 aminomethyltransferase 0.000 MTATP6 0.000 BOLA3 0.000 LLGL1 0.000 HOPA 0.000 ZFHX1B 0.000 PEX13 0.000 EMX2 0.000 POLG 0.000 NFIA 0.000 3-hydroxy-3-methylglutaryl-CoA lyase 0.000 LH1 0.000 CRT2 0.000 SCML2 0.000 Tho1 0.000 ECGF1 0.000 CNTN5 0.000 ARID3B 0.000 NDUFAF2 0.000 MYBPC1 0.000 NXF2 0.000 TLE2 0.000 USP16 0.000 Filamin B 0.000 POGZ 0.000 TAOK1 0.000 ubiquitin-protein ligase E3A 0.000 Forkhead box protein P1 0.000 SCN3A 0.000 GAMT 0.000 jerky 0.000 HYP 0.000 crotonase 0.000 long chain 0.000 Pur 0.000 carnitine carrier 0.000 RyR1 0.000 PRMT9 0.000 PDE6D 0.000 MYST4 0.000 SULT4A1 0.000 CACNB4 0.000 ITPA 0.000 complex I assembly factor 0.000 Midori 0.000 COG8 0.000 TBCD 0.000 PCDH11X 0.000 NUFIP1 0.000 KCNJ15 0.000 BCAS3 0.000 AFF2 0.000 GA II 0.000 3-hydroxy-3-methylglutaryl CoA 0.000 SYNGAP1 0.000 PIAS4 0.000 MRPP2 0.000 EGR2 0.000 sit 0.000 NIPA1 0.000 HADHA 0.000 SLC18A2 0.000 acylglycerol kinase 0.000 SLC25A46 0.000 FGD4 0.000 ATP synthase 6 0.000 NDUFS7 0.000 ACAD9 0.000 Phosphomannomutase 0.000 MAPK8IP1 0.000 PRKX 0.000 SLACK 0.000 HMGCL 0.000 KIAA1109 0.000 ARFGAP1 0.000 PEX2 0.000 tafazzin 0.000 TAF1 0.000 spectraplakin 0.000 myelin protein zero 0.000 KMT2E 0.000 euchromatic histone-lysine N-methyltransferase 1 0.000 CML28 0.000 fucokinase 0.000 ALG8 0.000 E1 alpha 0.000 DHPR 0.000 RELN 0.000 FBLN1 0.000 CAMK2B 0.000 Glucosidase I 0.000 TRIM2 0.000 C20orf54 0.000 SH3BP5 0.000 GORAB 0.000 MORF 0.000 GABRA5 0.000 PMCA3 0.000 UDP-galactose transporter 0.000 RP11 0.000 ornithine transporter 0.000 TRAPPC9 0.000 EIF2B2 0.000 RAB39B 0.000 CNOT2 0.000 CHD8 0.000 BRAG2 0.000 QCR8 0.000 TSEN54 0.000 PIG-M 0.000 Smad-interacting protein 1 0.000 BAF53b 0.000 GPI7 0.000 CACNA1B 0.000 PAFAH1B1 0.000 STT3B 0.000 WDR45 0.000 neuronal apoptosis inhibitory protein 0.000 fucosyltransferase 8 0.000 VCFS 0.000 MADM 0.000 CHST14 0.000 Walker 0.000 NDUFV1 0.000 UBE1 0.000 TnTs 0.000 ADAMTS3 0.000 MYL1 0.000 DIAPH3 0.000 EIF2B 0.000 PSMD14 0.000 ARHGEF6 0.000 CHRNA6 0.000 CDH12 0.000 COL13A1 0.000 succinate dehydrogenase flavoprotein subunit 0.000 EIF2S1 0.000 PHIP 0.000 mannosyltransferase 0.000 dolichol kinase 0.000 2E4 0.000 HCFC1 0.000 WDR26 0.000 FOXP1 protein 0.000 ERG-associated protein with SET domain 0.000 ABCD4 0.000 Aspartoacylase 0.000 beta2-syntrophin 0.000 DNM2 0.000 TWINKLE 0.000 PEX19 0.000 UBA1 0.000 CACT 0.000 RFT1 0.000 CNOT3 0.000 PTPRB 0.000 SMARCD1 0.000 COX11 0.000 GNA12 0.000 NRG2 0.000 Pex11pbeta 0.000 NEO1 0.000 NDUFS8 0.000 SMARCC2 0.000 M6b 0.000 CACNA1A 0.000 actin-capping protein 0.000 galactocerebrosidase 0.000 glycerate kinase 0.000 SBF2 0.000 OSTM1 0.000 CMT4B1 0.000 CAPZB 0.000 beta-ureidopropionase 0.000 PDLIM3 0.000 GRIM19 0.000 AGK 0.000 ARHGEF7 0.000 NKAP 0.000 NDST1 0.000 CAMTA1 0.000 TBX1 0.000 X-chromosome 0.000 SHOC2 0.000 axonal 0.000 UBQLN1 0.000 ATXN10 0.000 dGK 0.000 NXF 0.000 infantile malignant osteopetrosis 0.000 Aralar 0.000 EPC2 0.000 MAMLD1 0.000 PCDH9 0.000 CDC50A 0.000 COQ9 0.000 IFT140 0.000 AIRS 0.000 methylmalonyl-CoA epimerase 0.000 ALPL 0.000 SCN4A 0.000 propionyl-CoA carboxylase 0.000 growth hormone 0.000 dominant) 0.000 EEF1A2 0.000 TBL1XR1 0.000 TBR1 0.000 LAMB2 0.000 AKT3 0.000 SLC5A7 0.000 ArgBP2 0.000 TTF2 0.000 Mulibrey nanism 0.000 GABRD 0.000 Doc2 0.000 SMARCC1 0.000 DSCR 0.000 FARS 0.000 FREM1 0.000 ZNF423 0.000 MTMR14 0.000 GABRG3 0.000 MEK2 0.000 PCCB 0.000 lysosomal alpha-glucosidase 0.000 creatine transporter 0.000 BIK 0.000 ASAH1 0.000 PEX6 0.000 fumarate hydratase 0.000 5ptase 0.000 PPP1CB 0.000 NADH dehydrogenase subunit 3 0.000 SLC6A5 0.000 peroxisomal integral membrane protein 0.000 deoxyguanosine kinase 0.000 CCBE1 0.000 AJAP1 0.000 GABRA6 0.000 PPP2CA 0.000 translocon-associated protein 0.000 ATP7A protein 0.000 OXPHOS 0.000 SLC2A1 0.000 CPT II 0.000 FGS 0.000 PSP94 0.000 early B-cell factor 0.000 Signal transducer and activator of transcription 2 0.000 BRPF1 0.000 TMEM70 0.000 Coagulation factor V 0.000 L-fucokinase 0.000 SPG10 0.000 PRKCZ 0.000 MT-CO2 0.000 Gwt1 0.000 Kir4.2 0.000 DYNC2H1 0.000 methionine synthase reductase 0.000 methylmalonyl-CoA mutase 0.000 dynamin 2 0.000 fumarase 0.000 L1CAM 0.000 integrin alpha 7 0.000 PRMT2 0.000 IGSF1 0.000 ETFA 0.000 S-adenosylhomocysteine hydrolase 0.000 PMP22 0.000 GABA transaminase 0.000 HIVEP2 0.000 MUL 0.000 SUMF1 0.000 FLNA 0.000 ClC-6 0.000 AMPD2 0.000 GlyT1 0.000 DAG1 0.000 DIA1 0.000 AGRN 0.000 MEG3 0.000 CDK8 0.000 ARX 0.000 NARP 0.000 rapsyn 0.000 CDK5R1 0.000 Fukutin-related protein 0.000 CHAD 0.000 NELL2 0.000 mu4 0.000 pyruvate dehydrogenase 0.000 cryptic 0.000 dystrophin 0.000 GTL2 0.000 InsP3R1 0.000 LHON 0.000 NRXN1 0.000 UBA3 0.000 Neuroglycan C 0.000 NDUFA1 0.000 TNNT3 0.000 UBE2A 0.000 aminopropyltransferase 0.000 CACNA1G 0.000 SMA 0.000 BP1 0.000 p15 0.000 EDN3 0.000 XLMR 0.000 DMPK 0.000 SLC1A4 0.000 LFNG 0.000 CNDP1 0.000 NPH1 0.000 COL6A1 0.000 GTG 0.000 MADD 0.000 GRIN1 0.000 PEX14 0.000 NEFL 0.000 CSF 0.000 filamin A 0.000 DMR 0.000 CYFIP2 0.000 UBE3A 0.000 BCL-6 corepressor 0.000 HSAN1 0.000 Holocarboxylase synthetase 0.000 ATXN1 0.000 X-linked adrenoleukodystrophy 0.000 Smith-Lemli-Opitz syndrome 0.000 TAZ protein 0.000 HMG14 0.000 AHCY 0.000 CHRNA1 0.000 tropomyosin 3 0.000 CACNA1S 0.000 KvLQT1 0.000 HRAS 0.000 Mol 0.000 MGAT2 0.000 SLC35A3 0.000 CELSR1 0.000 ASH1L 0.000 ACOX1 0.000 CACNA1D 0.000 thymidine kinase 2 0.000 RARG 0.000 MBOAT7 0.000 CFL2 0.000 KIF5C 0.000 anthrax toxin receptor 0.000 NFIB 0.000 transferrin 0.000 SAF-A 0.000 9p22 0.000 DDX3X 0.000 ASXL2 0.000 NPY2R 0.000 SH3TC2 0.000 BDH1 0.000 INPP5E 0.000 PG-Lb 0.000 BICD2 0.000 Attractin 0.000 RASA1 0.000 DDC 0.000 DXS164 0.000 NEK1 0.000 PLP1 0.000 TNFRSF25 0.000 erg3 0.000 COL6A2 0.000 glucosidase 0.000 C-terminal binding protein 1 0.000 ciliary neurotrophic factor receptor 0.000 LAMA1 0.000 ADNP 0.000 mitochondrial acetoacetyl-CoA thiolase 0.000 CTBP1 0.000 DYNC1H1 0.000 nephrocystin 0.000 MAOB 0.000 ETFDH 0.000 methylmalonate-semialdehyde dehydrogenase 0.000 HADHB 0.000 sulfite oxidase 0.000 Dihydropyrimidine dehydrogenase 0.000 arylsulfatase A 0.000 RPS23 0.000 PCP4 0.000 CHD5 0.000 dihydropteridine reductase 0.000 pyrroline-5-carboxylate synthetase 0.000 BTD 0.000 ISA2 0.000 TBX4 0.000 TNKS 0.000 SLC30A10 0.000 TBC1D24 0.000 6-pyruvoyltetrahydropterin synthase 0.000 MATR3 0.000 telomeric 0.000 GDAP1 0.000 DPYD 0.000 DHH 0.000 VPS1 0.000 SIL1 0.000 sodium-dependent multivitamin transporter 0.000 KCNC3 0.000 NHE6 0.000 GPR98 0.000 ZFPM2 0.000 FGF12 0.000 Endoribonuclease 0.000 TPM2 0.000 STXBP1 0.000 ZIC2 0.000 PCCA 0.000 HSD17B10 0.000 BAF170 0.000 AGO3 0.000 CIRL 0.000 sterol isomerase 0.000 leiomyomatosis and renal cell cancer 0.000 CNOT1 0.000 CHRNB3 0.000 USP4 0.000 NDUFV2 0.000 EIF2AK2 0.000 DFNB9 0.000 SMARCE1 0.000 POLR3A 0.000 Kidd blood group 0.000 p53R2 0.000 galactose-1-phosphate uridyl transferase 0.000 MLL2 0.000 bromodomain containing 4 0.000 neurexin 1 0.000 muscleblind-like 1 0.000 FOXP3 protein 0.000 B4GALT1 0.000 KMT2A 0.000 galactose-1-phosphate uridyltransferase 0.000 peroxisomal membrane protein 0.000 mitochondrial Rho 0.000 COL9A3 0.000 Transcription factor 21 0.000 alpha actinin 0.000 BAF53 0.000 SCA5 0.000 TPPP 0.000 RAB18 0.000 DMD 0.000 CRHR1 0.000 ATP6 0.000 MOCA 0.000 prolyl endopeptidase 0.000 ATRX protein 0.000 ZAK 0.000 IRBIT 0.000 FBXO11 0.000 SPTLC1 0.000 Na+,K+ ATPase 0.000 AAAT 0.000 Cx47 0.000 PTPN11 0.000 FOXF2 0.000 TCN2 0.000 P5C 0.000 synaptotagmin 2 0.000 iPLA2 0.000 GPC6 0.000 Oxidoreductase 0.000 tissue-nonspecific alkaline phosphatase 0.000 SOX8 0.000 EAAT4 0.000 p25 0.000 3-hydroxyacyl-CoA dehydrogenase 0.000 AIFM1 0.000 GART 0.000 very-long-chain acyl-CoA dehydrogenase 0.000 diglyceride kinase 0.000 A6L 0.000 WNT1 0.000 TRPM1 0.000 ITGB6 0.000 SLC1A3 0.000 COX17 0.000 SAE1 0.000 ACF7 0.000 scaffold attachment factor A 0.000 GLYT2 0.000 NDUFS1 0.000 STIM1 0.000 cardiotrophin-like cytokine 0.000 E3BP 0.000 LMNB1 0.000 DNA polymerase gamma 0.000 glutamate dehydrogenase 1 0.000 Int1 0.000 ethanolamine kinase 0.000 NFS1 0.000 ZBTB7A 0.000 JMH 0.000 TRPS1 0.000 CD59 0.000 FHH 0.000 Cytochrome c 0.000 SMN 0.000 GPR56 0.000 adenosine monophosphate deaminase 0.000 JM1 0.000 RBM10 0.000 transient receptor potential melastatin 6 0.000 PQBP1 0.000 B12 0.000 ADAM23 0.000 malonyl-CoA decarboxylase 0.000 MFN2 0.000 TASK-3 0.000 TTN 0.000 PRMT7 0.000 TIM22 0.000 GTP cyclohydrolase I 0.000 CA8 0.000 transmembrane protein 1 0.000 OPA3 0.000 ACVR2A 0.000 antiquitin 0.000 FLNC 0.000 SAP3 0.000 coenzyme A synthase 0.000 PEX3 0.000 COL6A3 0.000 IGFBP2 0.000 REM 0.000 FIG4 0.000 KBP 0.000 Aristaless-related homeobox 0.000 STRAD 0.000 FOXP1 0.000 KLF13 0.000 succinate semialdehyde dehydrogenase 0.000 ZNF9 0.000 OTOF 0.000 pyruvate carboxylase 0.000 enoyl-CoA hydratase 0.000 alpha-ketoglutarate dehydrogenase 0.000 GDP-dissociation inhibitor 0.000 DLK1 0.000 VDDR 0.000 FAT4 0.000 DCoH 0.000 CLTC 0.000 Sep 0.000 LARGE 0.000 SHANK2 0.000 CACNA1C 0.000 MOZ 0.000 FSCN1 0.000 calcium sensing receptor 0.000 thyroid hormone 0.000 ARID1B 0.000 POLR2A 0.000 MX1 0.000 GRIK2 0.000 HAX1 0.000 CPT2 0.000 ATRX 0.000 GlyT2 0.000 XNP 0.000 PFKL 0.000 SRp40 0.000 JARID2 0.000 CER1 0.000 CISS 0.000 HBA 0.000 methionine synthase 0.000 MSUD 0.000 BMP3 0.000 OFD1 0.000 MGD1 0.000 N-acetylglucosaminyltransferase II 0.000 p14 0.000 CEN3 0.000 peripheral myelin protein 22 0.000 NEGR1 0.000 AED 0.000 nesprin-1 0.000 THRA 0.000 Cep290 0.000 BCL11A 0.000 PEX5 0.000 EFNB2 0.000 EN1 0.000 KS1 0.000 CCA-adding enzyme 0.000 KCNT1 0.000 senataxin 0.000 RMI1 0.000 transcobalamin II 0.000 sarcomeric 0.000 Kir3.2 0.000 idem 0.000 HERC1 0.000 SLC22A3 0.000 TNXB 0.000 URB 0.000 Kruppel-associated box 0.000 NAIP 0.000 glucosidase I 0.000 NLGN4X 0.000 Musashi-2 0.000 galactosyltransferase I 0.000 CYFIP1 0.000 kelch-like 0.000 p12 0.000 aniridia 0.000 5-HT-2 0.000 PPP2R1A 0.000 Sulfite oxidase 0.000 TUBA1A 0.000 Creatine kinase 0.000 CRAC 0.000 cytochrome aa3 0.000 MED4 0.000 Pyruvate carboxylase 0.000 DSCAM 0.000 DLG1 0.000 KIF1A 0.000 DM1 0.000 SPAST 0.000 HEY2 0.000 HBS1L 0.000 Mevalonate kinase 0.000 CHAT 0.000 PHD domain 0.000 GTX 0.000 IKBKG 0.000 PEX7 0.000 TASK1 0.000 OFC 0.000 alternatively spliced product 0.000 ASD 0.000 panhypopituitarism 0.000 SOX10 0.000 histone methyltransferase 0.000 STRA6 0.000 LMN 0.000 mitochondrial carrier 0.000 MDH2 0.000 SOX7 0.000 GOT1 0.000 nitric oxide synthase 1 0.000 XT-I 0.000 PH4 0.000 DYRK1A 0.000 FLN 0.000 Cyclin-dependent kinase inhibitor 3 0.000 ATOX1 0.000 GM2 activator protein 0.000 BIN1 0.000

Disease developmental delay 0.027 Joubert syndrome 0.004 failure to thrive 0.004 mental retardation 0.004 macrocephaly 0.004 mental retardation 0.003 myopathy 0.002 Cohen syndrome 0.002 severe mental retardation 0.001 Congenital muscular dystrophy 0.001 Leigh syndrome 0.001 Nemaline myopathy 0.001 FGS 0.001 delayed speech 0.001 encephalopathy 0.001 centronuclear myopathy 0.001 Zellweger syndrome 0.001 hypogonadism 0.001 congenital muscle disorder 0.001 Fumarase deficiency 0.001 Adenylosuccinate lyase deficiency 0.001 hyperglycinemia 0.001 Allan-Herndon-Dudley syndrome 0.001 optic atrophy 0.001 Toriello-Carey syndrome 0.001 Lowe syndrome 0.001 uniparental disomy of chromosome 14 0.001 lactic acidosis 0.001 Congenital myotonic dystrophy 0.001 muscular dystrophy 0.001 Neuhauser syndrome 0.000 EDS VI 0.000 SMAX2 0.000 brachycephaly 0.000 epilepsy 0.000 floppy baby syndrome 0.000 Congenital fiber type disproportion 0.000 moderate mental retardation 0.000 FGS2 0.000 MDC1A 0.000 nystagmus 0.000 Angelman syndrome 0.000 pachygyria 0.000 trisomy 0.000 scoliosis 0.000 hyperphagia 0.000 Neurodevelopmental disorder 0.000 CDG Ix 0.000 IOSCA 0.000 HCG 0.000 Wolf-Hirschhorn syndrome 0.000 Gillespie syndrome 0.000 mild mental retardation 0.000 CDG Ia 0.000 brain atrophy 0.000 muscular atrophy 0.000 Biotinidase deficiency 0.000 blepharophimosis 0.000 Sotos syndrome 0.000 propionic acidemia 0.000 strabismus 0.000 Central core disease 0.000 Cobalamin C disease 0.000 Werdnig-Hoffmann disease 0.000 leukodystrophy 0.000 Infantile botulism 0.000 lissencephaly 0.000 diplegia 0.000 Mitochondrial DNA depletion 0.000 Pontocerebellar hypoplasia 0.000 AMD 0.000 Canavan 0.000 mitochondrial disease 0.000 prolapse 0.000 trisomy 12p 0.000 respiratory failure 0.000 KMS 0.000 genetic disorder 0.000 CDG Im 0.000 tetrasomy 15q 0.000 Pituitary coma 0.000 Symmetrical growth retardation 0.000 CMD1C 0.000 D-Glyceric aciduria 0.000 NPHP1, DEL 0.000 Muscle tone abnormalities 0.000 Gaze palsy 0.000 Motor speech disorder 0.000 WARBM 0.000 JBTS6 0.000 Deficiency of enoyl-CoA hydratase 0.000 CDG Ik 0.000 CMTX5 0.000 NALD 0.000 megalocornea 0.000 Dandy-Walker malformation 0.000 49,XXXXY syndrome 0.000 PCH1 0.000 bilateral cataracts 0.000 choreoathetosis 0.000 apraxia 0.000 congenital disorder 0.000 partial trisomy 11q 0.000 Fukuyama congenital muscular dystrophy 0.000 intellectual impairment 0.000 autism 0.000 Opitz 0.000 Smith-Fineman-Myers syndrome 0.000 cutis laxa 0.000 MDC1C 0.000 DM1 0.000 Rett syndrome 0.000 Thyrotoxic myopathy 0.000 partial monosomy 8q 0.000 Congenital cerebellar ataxia 0.000 CMD1D 0.000 cerebellotrigeminal and focal dermal dysplasia 0.000 CDG Ic 0.000 Glossoptosis 0.000 lysinemia 0.000 Organic aciduria 0.000 de Barsy syndrome 0.000 INAD 0.000 Salla disease 0.000 Down syndrome 0.000 arachnodactyly 0.000 inverted duplication of chromosome 15 0.000 Cytochrome c oxidase deficiency 0.000 profound mental retardation 0.000 PDH deficiency 0.000 cardiomyopathy 0.000 trisomy 15q 0.000 CMD1A 0.000 DFN2 0.000 14q deletion syndrome 0.000 Anterior horn cell disease 0.000 Hyper-beta-alaninemia 0.000 EDS VIB 0.000 neurofaciodigitorenal syndrome 0.000 Alpers 0.000 Transverse sinus thrombosis 0.000 r(18) syndrome 0.000 cardiofaciocutaneous syndrome 0.000 Succinic semialdehyde dehydrogenase deficiency 0.000 C syndrome 0.000 Fatty acid oxidation defects 0.000 hyperlysinemia 0.000 inv(X) 0.000 NPHP1 0.000 XLIS 0.000 cerebral palsy 0.000 acrocyanosis 0.000 cystinuria 0.000 spastic paraplegia 0.000 methylmalonic acidemia 0.000 Congenital Myasthenic Syndromes 0.000 Ritscher-Schinzel syndrome 0.000 trisomy 22 0.000 MKS3 0.000 growth hormone deficiency 0.000 Disorders of mitochondrial metabolism 0.000 SMAX3 0.000 Sopor 0.000 cerebro-oculo-muscular syndrome 0.000 cri-du-chat syndrome 0.000 Coffin-Siris syndrome 0.000 WHSCR 0.000 Carbohydrate-deficient glycoprotein syndrome 0.000 Menkes 0.000 cleft palate 0.000 obesity 0.000 ARTS 0.000 neuromuscular disorder 0.000 GCE 0.000 hydrocephalus 0.000 Barth syndrome 0.000 fetal trimethadione syndrome 0.000 CISS2 0.000 Sepiapterin reductase deficiency 0.000 Ataxic dysarthria 0.000 partial trisomy 19p 0.000 Complex II deficiency 0.000 Alternating hemiplegia 0.000 SCAR8 0.000 penta-X syndrome 0.000 glutamate formiminotransferase deficiency 0.000 Congenital hyperthyroidism 0.000 Ehlers-Danlos syndrome 0.000 MWS 0.000 tetrasomy 18p 0.000 22q deletion syndrome 0.000 Costello syndrome 0.000 Syndrome 0.000 Lowe 0.000 metabolic disorder 0.000 stereotypies 0.000 Ullrich 0.000 hypoglycemia 0.000 trisomy 17p 0.000 Autistic behavior 0.000 Primrose syndrome 0.000 mitochondrial myopathy 0.000 hypertrophic cardiomyopathy 0.000 Peroxisomal disorders 0.000 GA I 0.000 tetrasomy 5p 0.000 diploid/triploid mixoploidy 0.000 Neonatal disease 0.000 Labor complications 0.000 monosomy 10p 0.000 congenital neuromuscular disorder 0.000 GTP cyclohydrolase I deficiency 0.000 partial trisomy 7q 0.000 methionine synthase deficiency 0.000 PCWH 0.000 developmental disabilities 0.000 glutaric aciduria 0.000 MILS 0.000 Gingival hypertrophy 0.000 3-Methylglutaconic aciduria 0.000 tetraplegia 0.000 aminoaciduria 0.000 Hypothalamic dysfunction 0.000 dysplasia 0.000 partial trisomy 9q 0.000 Refsum disease 0.000 Complex III deficiency 0.000 XLAG 0.000 PCH5 0.000 Beta-ketothiolase deficiency 0.000 LSFC 0.000 esotropia 0.000 deafness 0.000 hypomelanosis of Ito 0.000 trisomy 10p 0.000 partial trisomy 7p 0.000 Spinal muscular atrophy 0.000 sensorineural hearing loss 0.000 NHBP 0.000 Bulbar weakness 0.000 Anterior spinal artery syndrome 0.000 CISS1 0.000 Holocarboxylase synthetase deficiency 0.000 Progressive myopia 0.000 Marshall-Smith syndrome 0.000 Malonyl-CoA decarboxylase deficiency 0.000 PKS 0.000 Perlman syndrome 0.000 Sydenham's chorea 0.000 myofasciitis 0.000 Pelizaeus-Merzbacher disease 0.000 ACLS 0.000 partial trisomy 3p 0.000 Eosinophilic meningoencephalitis 0.000 borderline mental retardation 0.000 PCH4 0.000 MDC1D 0.000 6p deletion syndrome 0.000 trisomy 22q 0.000 Type III reaction 0.000 Winged scapula 0.000 learning disability 0.000 Jacobsen syndrome 0.000 delayed language 0.000 Andermann syndrome 0.000 CMD 0.000 neuropathy 0.000 dup(3q) syndrome 0.000 mental handicap 0.000 sleep apnea 0.000 CMD 0.000 HSAN IV 0.000 mental developmental delay 0.000 MCC deficiency 0.000 protein-calorie deficiency 0.000 glycogen storage disease 0.000 hypertrichosis 0.000 fits 0.000 trisomy 10q 0.000 4q deletion syndrome 0.000 Periventricular nodular heterotopia 0.000 sialic acid storage disease 0.000 alalia 0.000 10q deletion syndrome 0.000 benign familial macrocephaly 0.000 oculocerebrofacial syndrome 0.000 oculomotor syndrome 0.000 CLS 0.000 enzyme deficiency 0.000 neurobehavioral problems 0.000 trisomy 15 0.000 movement disorder 0.000 AN2 0.000 Posterior synechiae 0.000 ter Haar syndrome 0.000 monosomy 16q 0.000 partial monosomy 6q 0.000 schizencephaly 0.000 coma 0.000 mitochondrial encephalomyopathy 0.000 Gastric dilatation 0.000 velocardiofacial syndrome 0.000 monosomy 9p 0.000 Lennox-Gastaut syndrome 0.000 Pili torti 0.000 Hyper IgM syndrome 0.000 ATP synthase deficiency 0.000 Guanidinoacetate methyltransferase deficiency 0.000 Trisomy 20 0.000 mutism 0.000 trisomy 9p 0.000 Giant axonal neuropathy 0.000 18q- syndrome 0.000 Ruvalcaba syndrome 0.000 trisomy 14 0.000 Chorioretinopathy 0.000 Neonatal hypocalcemia 0.000 chalasia 0.000 VDD1 0.000 Hopkins syndrome 0.000 morbid obesity 0.000 encephalomyelopathy 0.000 Biotin deficiency 0.000 peripheral neuropathy 0.000 spastic diplegia 0.000 homocystinuria 0.000 quadriparesis 0.000 tetrasomy 9p 0.000 Galloway-Mowat syndrome 0.000 precocious puberty 0.000 SCA15 0.000 Congenital hypothyroidism 0.000 Robin 0.000 megaloblastic anemia 0.000 Lennox-Gastaut syndrome 0.000 monosomy 21 0.000 Lujan-Fryns syndrome 0.000 Martsolf syndrome 0.000 pancreatic islet hyperplasia 0.000 trisomy 8p 0.000 External hydrocephalus 0.000 Johanson-Blizzard syndrome 0.000 3p- syndrome 0.000 congenital hypothyroidism 0.000 LGMD2I 0.000 cataplexy 0.000 Worster-Drought syndrome 0.000 renal rickets 0.000 hypermethioninemia 0.000 GM2 gangliosidosis 0.000 obstructive sleep apnea 0.000 dyskinesia 0.000 olivopontocerebellar atrophy 0.000 Smith-Lemli-Opitz syndrome 0.000 WWS 0.000 Recurrent apnea 0.000 ALD 0.000 nephrocalcinosis 0.000 exotropia 0.000 rickets 0.000 SMS 0.000 craniosynostosis 0.000 Alternating hemiplegia of childhood 0.000 Pelizaeus-Merzbacher 0.000 LPI 0.000 akinesia 0.000 Dubowitz 0.000 SMARD1 0.000 attention-seeking 0.000 DHPR deficiency 0.000 Neonatal encephalopathy 0.000 gastroesophageal reflux disease 0.000 malignant hyperthermia 0.000 retinitis pigmentosa 0.000 HMG-CoA lyase deficiency 0.000 partial trisomy 2q 0.000 partial trisomy 14q 0.000 Rhizomelic chondrodysplasia punctata 0.000 Charcot-Marie-Tooth disease 0.000 Inborn errors of metabolism 0.000 OSX 0.000 Suprachoroidal hemorrhage 0.000 disorders of copper metabolism 0.000 myopia 0.000 trichorrhexis 0.000 hypsarhythmia 0.000 fructose-1,6-diphosphatase deficiency 0.000 cognitive impairment 0.000 language disorder 0.000 neonatal jaundice 0.000 Mulvihill-Smith syndrome 0.000 trisomy 18q 0.000 metaphyseal dysostosis 0.000 craniotabes 0.000 anal atresia 0.000 VDDR 0.000 Renal tubular dysfunction 0.000 hypermagnesemia 0.000 DiGeorge syndrome 0.000 ventricular dilatation 0.000 RP11 0.000 MOPD II 0.000 radioulnar synostosis 0.000 hernia 0.000 Upper gastrointestinal symptoms 0.000 Complex I deficiency 0.000 Reye 0.000 Ondine's curse 0.000 sensory neuropathy 0.000 vitamin B12 deficiency 0.000 ventricular septal defect 0.000 hereditary chorea 0.000 branchio-oculo-facial syndrome 0.000 trisomy 8q 0.000 acute schizophrenic episode 0.000 atrial septal defect 0.000 Alexander disease 0.000 LIS1 0.000 Andersen 0.000 blindness 0.000 hyperphenylalaninemia 0.000 Congenital chylothorax 0.000 Distal arthrogryposis 0.000 partial trisomy 2p 0.000 cafe au lait spots 0.000 cblF 0.000 hypophosphatasia 0.000 hypothyroidism 0.000 SGS 0.000 Nicolaides-Baraitser syndrome 0.000 Neonatal stroke 0.000 Neonatal cholestasis 0.000 JHS 0.000 chromosome disorder 0.000 DPD deficiency 0.000 W syndrome 0.000 BBS9 0.000 stage IB cervical cancer 0.000 Galactosialidosis 0.000 triplegia 0.000 hereditary motor and sensory neuropathy 0.000 extrapyramidal disorder 0.000 glaucoma 0.000 laryngostenosis 0.000 partial trisomy 4q 0.000 Uterine inversion 0.000 cerebellar syndrome 0.000 Batten 0.000 Mevalonate kinase deficiency 0.000 Carnitine deficiency 0.000 Uterine inversion 0.000 TBCD 0.000 heart disease 0.000 Hennekam syndrome 0.000 cutaneous leiomyoma 0.000 PCH2 0.000 lysosomal storage disease 0.000 dysphagia 0.000 alpha thalassemia 0.000 cataract 0.000 DFNB9 0.000 Mongolian spots 0.000 Phrenic nerve palsy 0.000 SCA5 0.000 fetal valproate syndrome 0.000 polyneuropathy 0.000 monosomy 18p 0.000 MDS 0.000 Simpson-Golabi-Behmel syndrome 0.000 Acute disseminated encephalomyelitis 0.000 progressive bulbar palsy 0.000 hyperornithinemia 0.000 Williams syndrome 0.000 dilated cardiomyopathy 0.000 neurofibromatosis-Noonan syndrome 0.000 MGA3 0.000 Brown-Vialetto-Van Laere syndrome 0.000 OPA3 0.000 BSND 0.000 ring chromosome 20 0.000 rare disease 0.000 Pierson 0.000 Mucolipidosis type IV 0.000 petechiae 0.000 hyperbilirubinemia 0.000 Neonatal hyperbilirubinemia 0.000 Behavioral problems 0.000 neutropenia 0.000 optic disc atrophy 0.000 AB variant 0.000 Epidural abscess 0.000 wasting 0.000 spasmus nutans 0.000 homocystinemia 0.000 BPES 0.000 Peliosis hepatis 0.000 Fanconi syndrome 0.000 progressive chorea 0.000 myasthenia 0.000 hydronephrosis 0.000 status epilepticus 0.000 Kugelberg-Welander 0.000 Osteopathia striata with cranial sclerosis 0.000 Glycerol kinase deficiency 0.000 NEK1 0.000 IgG2 deficiency 0.000 trisomy 9 0.000 leukoencephalopathy 0.000 renal tubular acidosis 0.000 GM1 gangliosidosis 0.000 Wiedemann-Rautenstrauch syndrome 0.000 Goodall 0.000 tracheomalacia 0.000 LEOPARD syndrome 0.000 recurrent pneumonia 0.000 gangliosidosis 0.000 pulmonary insufficiency 0.000 Fanconi 0.000 Krabbe disease 0.000 funnel chest 0.000 Cutaneous mastocytosis 0.000 Narcolepsy with cataplexy 0.000 conotruncal anomaly face syndrome 0.000 Beckwith-Wiedemann syndrome 0.000 GSD 0.000 Congenital nephrogenic diabetes insipidus 0.000 brittle hair 0.000 Pearson's syndrome 0.000 13q deletion syndrome 0.000 Argininosuccinic aciduria 0.000 gastrointestinal reflux 0.000 Zimmermann-Laband syndrome 0.000 panhypopituitarism 0.000 Carpenter syndrome 0.000 chylomicron retention disease 0.000 KBG syndrome 0.000 minimal brain dysfunction 0.000 Opsoclonus-myoclonus syndrome 0.000 Parathyroid gland 0.000 Parathyroid gland 0.000 Parathyroid gland 0.000 hemiparesis 0.000 sleep disturbances 0.000 Angiostrongyliasis 0.000 IgG4 deficiency 0.000 Cardiac defects 0.000 TSH deficiency 0.000 Hypogonadotropic hypogonadism 0.000 Hereditary tyrosinemia type I 0.000 Reifenstein syndrome 0.000 anhidrosis 0.000 malnutrition 0.000 neurological disease 0.000 GSD 0.000 Central precocious puberty 0.000 Enamel hypoplasia 0.000 Enterovirus infection 0.000 disaccharidase deficiency 0.000 adrenal insufficiency 0.000 ADA-SCID 0.000 self-injurious behavior 0.000 EME 0.000 hypercalcemia 0.000 Calcium deficiency 0.000 thrombopathy 0.000 Hallervorden-Spatz disease 0.000 craniofrontonasal syndrome 0.000 CMCT 0.000 multicore 0.000 psychomotor epilepsy 0.000 Niemann-Pick disease type A 0.000 macrocytic anemia 0.000 MELAS 0.000 RP9 0.000 neuronal ceroid lipofuscinosis 0.000 Waardenburg syndrome 0.000 speech disorder 0.000 Neonatal seizures 0.000 retinopathy 0.000 hyperopia 0.000 Cutis marmorata 0.000 sialidosis 0.000 Griscelli syndrome 0.000 hypothalamic disorder 0.000 familial periodic paralysis 0.000 Bardet-Biedl syndrome 0.000 attention deficit disorder 0.000 Duchenne muscular dystrophy 0.000 Juvenile hyaline fibromatosis 0.000 cervical spinal stenosis 0.000 Kenny-Caffey syndrome 0.000 Cerebellar atrophy 0.000 recurrent cystitis 0.000 cleft lip/palate 0.000 WSS 0.000 bruxism 0.000 narcolepsy 0.000 hemichorea 0.000 ATRX 0.000 hereditary ataxia 0.000 PC deficiency 0.000 inguinal hernia 0.000 hearing disability 0.000 XYY syndrome 0.000 pediatric disorder 0.000 Congenital central hypoventilation syndrome 0.000 thrombocytopenia 0.000 MELAS 0.000 periodic paralysis 0.000 connective tissue disease 0.000 conductive hearing loss 0.000 dacryocystocele 0.000 neurological infection 0.000 Tauri 0.000 Dystonia 0.000 PNP deficiency 0.000 hypogonadotropic hypogonadism 0.000 hiatal hernia 0.000 maple syrup urine disease 0.000 Sandhoff disease 0.000 prematurity 0.000 Aspartylglucosaminuria 0.000 septal defect 0.000 reflex epilepsy 0.000 cerebral degeneration 0.000 neonatal asphyxia 0.000 echolalia 0.000 Laurence-Moon-Biedl syndrome 0.000 Cortical dysplasia 0.000 megarectum 0.000 incontinentia pigmenti 0.000 GALT 0.000 Chondrodysplasia punctata 0.000 trisomy X 0.000 myasthenia gravis 0.000 fragile X syndrome 0.000 complex partial seizures 0.000 capsulitis 0.000 endocardial fibroelastosis 0.000 chondrodysplasia 0.000 diabetes insipidus 0.000 OFC 0.000 TRPS1 0.000 achondroplasia 0.000 blepharophimosis-ptosis-epicanthus inversus syndrome 0.000 autonomic disorder 0.000 HSAN 0.000 behavior problem 0.000 paramyotonia 0.000 ADHD 0.000 osteodysplastic primordial dwarfism 0.000 Tubulointerstitial nephritis 0.000 hemiplegic migraine 0.000 Norrie disease 0.000 Neonatal alloimmune thrombocytopenia 0.000 MERRF 0.000 psychomotor impairment 0.000 SRS 0.000 sudden infant death syndrome 0.000 Seckel syndrome 0.000 intraocular pressure 0.000 coagulopathy 0.000 Hajdu-Cheney syndrome 0.000 staphyloma 0.000 osteosclerosis 0.000 febrile convulsions 0.000 ketosis 0.000 OFD1 0.000 CGD 0.000 hormone deficiency 0.000 Taybi 0.000 Trousseau's syndrome 0.000 gynecomastia 0.000 focal epilepsy 0.000 Microangiopathy 0.000 FRAXA 0.000 immaturity 0.000 Kearns-Sayre syndrome 0.000 hereditary neuropathy 0.000 tonsillar hypertrophy 0.000 cholestasis 0.000 normocytic anemia 0.000 syringomyelia 0.000 hypogammaglobulinemia 0.000 metachromatic leukodystrophy 0.000 Cranial nerves 0.000 Cranial nerves 0.000 nephrolithiasis 0.000 Greig cephalopolysyndactyly syndrome 0.000 trisomy 1q 0.000 Ondine's curse 0.000 Goldenhar syndrome 0.000 kernicterus 0.000 hallucinosis 0.000 brain dysfunction 0.000 familial dysautonomia 0.000 arthritis of the hip 0.000 bicuspid 0.000 bronchopneumonia 0.000 delayed puberty 0.000 aspiration pneumonia 0.000 OPS 0.000 Cogan 0.000 Oppenheim 0.000 hereditary sensory neuropathy 0.000 encephalomalacia 0.000 Ohtahara syndrome 0.000 childhood glaucoma 0.000 GHD 0.000 motor neuron disease 0.000 Chronic progressive external ophthalmoplegia 0.000 acanthocytosis 0.000 renal failure 0.000 sepsis 0.000 anemia 0.000 pancytopenia 0.000 DES 0.000 dental abscess 0.000 grand mal epilepsy 0.000 CADASIL 0.000 hypopituitarism 0.000 ectodermal dysplasia 0.000 Cornelia de Lange 0.000 tetany 0.000 Autism 0.000 Danon disease 0.000 sleep disorders 0.000 Spinocerebellar ataxia 0.000 LCA 0.000 FRAXE 0.000 limb-girdle muscular dystrophy 0.000 Ehlers-Danlos syndrome type IV 0.000 Lower limb 0.000 laryngotracheobronchitis 0.000 IRD 0.000 SCA2 0.000 pseudobulbar palsy 0.000 dehydration 0.000 Friedreich's ataxia 0.000 angiokeratoma 0.000 MRS 0.000 depression 0.000 SBMA 0.000 Mendelian disorders 0.000 hemangioma 0.000 Lesch-Nyhan syndrome 0.000 external genitalia 0.000 ATD 0.000 pneumonia 0.000 heart failure 0.000 Guillain-Barre syndrome 0.000 orphan disease 0.000 Turner syndrome 0.000 throat infection 0.000 Pneumatosis intestinalis 0.000 Hydrops fetalis 0.000 fetal macrosomia 0.000 cor pulmonale 0.000 rheumatic fever 0.000 Gram-negative septicemia 0.000 lipoproteinemia 0.000 anarthria 0.000 hypernasality 0.000 Brain stem 0.000 RGS 0.000 sepsis 0.000 Cerebellum 0.000 pseudohypoparathyroidism 0.000 polysubstance abuse 0.000 McArdle's disease 0.000 Marfan syndrome 0.000 nephrogenic diabetes insipidus 0.000 incontinence 0.000 rash 0.000 Central sleep apnea 0.000 SGS 0.000 X-linked hyper-IgM syndrome 0.000 monosomy 22 0.000 dysautonomia 0.000 cognitive deficit 0.000 circulatory disorder 0.000 Morvan 0.000 acanthosis nigricans 0.000 Catecholaminergic polymorphic ventricular tachycardia 0.000 Conradi 0.000 astigmatism 0.000 trisomy 8 0.000 lymphedema 0.000 Farber 0.000 bronchomalacia 0.000 Forbes 0.000 MEST 0.000 Niemann-Pick 0.000 GAN 0.000 retinal detachment 0.000 high risk pregnancy 0.000 respiratory acidosis 0.000 hyperargininemia 0.000 hydroureteronephrosis 0.000 renal cyst 0.000 encephalitis 0.000 pulmonary hypertension 0.000 Sutton 0.000 MSS 0.000 hypoparathyroidism 0.000 Primary hypothyroidism 0.000 SPG4 0.000 DRS 0.000 mannosidosis 0.000 MPS II 0.000 AIC 0.000 congenital infection 0.000 leukopenia 0.000 agammaglobulinemia 0.000 sideroblastic anemia 0.000 ABO incompatibility 0.000 Hereditary spastic paraplegia 0.000 Vesicoureteral reflux 0.000 hearing disorder 0.000 hemiparkinsonism 0.000 myoclonus epilepsy 0.000 Kleine-Levin syndrome 0.000 carcinoma of the parotid 0.000 ichthyosis 0.000 triploidy 0.000 Tag 0.000 PIT 0.000 dysphasia 0.000 SWS 0.000 compulsion 0.000 neurofibromatosis 0.000 psychosis 0.000 fibromatosis 0.000 Sertoli-Leydig cell tumor 0.000 Sertoli-Leydig cell tumor 0.000 CHN 0.000 DSS 0.000 hyposplenism 0.000 choroid plexus papilloma 0.000 interstitial keratitis 0.000 catalepsy 0.000 osteoporosis 0.000 primary hyperparathyroidism 0.000 AT3 0.000 AT3 0.000 AT3 0.000 AT3 0.000 AT3 0.000 AT3 0.000 AT3 0.000 AT3 0.000 AT3 0.000 Weaver 0.000 gastrointestinal dysfunction 0.000 polycythemia 0.000 Growth failure 0.000 parkinsonism 0.000 EXT2 0.000 Klinefelter's syndrome 0.000 primitive neuroectodermal tumor 0.000 learning disorder 0.000 incontinence 0.000 Burnett 0.000 proptosis 0.000 respiratory infection 0.000 ectropion 0.000 paraplegia 0.000 taurodontism 0.000 Diaz 0.000 polyradiculoneuropathy 0.000 trisomy 13 0.000 MSD 0.000 ichthyosis 0.000 congenital deafness 0.000 DM2 0.000 congenital hemolytic anemia 0.000 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 0.000 pulmonic stenosis 0.000 Reye's syndrome 0.000 aggression 0.000 colonic diverticulosis 0.000 Renovascular hypertension 0.000 moderate obesity 0.000 gastroparesis 0.000 Machado-Joseph disease 0.000 hypervitaminosis 0.000 chorioretinal atrophy 0.000 osteogenesis imperfecta 0.000 threatened abortion 0.000 BOS 0.000 PBT 0.000 PARK2 0.000 Lhermitte-Duclos disease 0.000 endolymphatic hydrops 0.000 bronchospasm 0.000 Cornelia de Lange syndrome 0.000 immune disorder 0.000 stomatocytosis 0.000 hyaline membrane disease 0.000 lens opacity 0.000 BCM 0.000 Hypertrophic cardiomyopathy 0.000 chorioretinitis 0.000 afibrinogenemia 0.000 proteinuria 0.000 Crigler-Najjar syndrome 0.000 parasympathomimetic 0.000 epidermal nevus syndrome 0.000 lipodystrophy 0.000 hypochloremia 0.000 prostatic obstruction 0.000 Muckle-Wells syndrome 0.000 emotional disturbance 0.000 PME 0.000 pancreatic insufficiency 0.000 plexopathy 0.000 facial palsy 0.000 venous stasis 0.000 neurofibromatosis type 1 0.000 phosphaturia 0.000 primitive neuroectodermal tumor 0.000 voice disorder 0.000 Ellis-van Creveld syndrome 0.000 osteopetrosis 0.000 protein-losing enteropathy 0.000 amelogenesis imperfecta 0.000 developmental language disorder 0.000 immunodeficiency 0.000 primary disorders 0.000 GSD I 0.000 disabling disease 0.000 phenylketonuria 0.000 MacLeod 0.000 Sheehan's syndrome 0.000 sclera 0.000 chylothorax 0.000 hypoglycemic coma 0.000 separation anxiety 0.000 foot drop 0.000 hemophagocytic lymphohistiocytosis 0.000 IOL 0.000 chorioamnionitis 0.000 developmental coordination disorder 0.000 WT1 0.000 tyrosinemia 0.000 complete paraplegia 0.000 progressive muscular atrophy 0.000 RSS 0.000 petit mal 0.000 esophagitis 0.000 FSS 0.000 hypertension 0.000 hydrocele 0.000 neovascular glaucoma 0.000 NSD 0.000 low IQ 0.000 amblyopia 0.000 Mohr 0.000 congenital dislocation of the hip 0.000 malabsorption 0.000 neonatal abstinence syndrome 0.000 LDS 0.000 AOS 0.000 RARS 0.000 obstipation 0.000 diastematomyelia 0.000 OPA1 0.000 herpes zoster ophthalmicus 0.000 cervical incompetence 0.000 diabetes 0.000 gastroduodenitis 0.000 mucopolysaccharidosis 0.000 ornithine transcarbamylase deficiency 0.000 Hurler 0.000 primary hyperoxaluria 0.000 JIP 0.000 Munchausen syndrome 0.000 hallucinations 0.000 pyonephrosis 0.000 Mastocytosis 0.000 RDP 0.000 hyperuricemia 0.000 steatorrhea 0.000 West 0.000 AV nodal reentrant tachycardia 0.000 papillitis 0.000 Addison's disease 0.000 FIM 0.000 pericardial effusion 0.000 ventricular hypertrophy 0.000 citrullinemia 0.000 stroke 0.000 CLE 0.000 sinus tachycardia 0.000 Horner syndrome 0.000 Intestinal ischemia 0.000 Asperger syndrome 0.000 ACTH deficiency 0.000 mitral valve prolapse 0.000 enophthalmos 0.000 Copper deficiency 0.000 Addison's disease 0.000 NPC 0.000 Nystagmus 0.000 nephrotic syndrome 0.000 spinal cord compression 0.000 Autism spectrum disorder 0.000 PBD 0.000 CBCL 0.000 hypohidrosis 0.000 leukoderma 0.000 Posterior 0.000 open angle glaucoma 0.000 scrotum 0.000 Proteus syndrome 0.000 Neuromyelitis optica 0.000 Larsen 0.000 BMD 0.000 cystocele 0.000 aldosteronism 0.000 Sanfilippo syndrome 0.000 parasomnia 0.000 enterocolitis 0.000 oligohydramnios 0.000 eczema 0.000 PDD 0.000 polyneuritis 0.000 CES 0.000 hyperparathyroidism 0.000 galactosemia 0.000 emotional instability 0.000 Tuberculous meningitis 0.000 synechia 0.000 myotonia congenita 0.000 siderosis 0.000 sclerodactyly 0.000 polymyositis 0.000 restrictive cardiomyopathy 0.000 MBS 0.000 Bielschowsky 0.000 kwashiorkor 0.000 brain edema 0.000 CLN2 0.000 generalized seizure 0.000 hyperviscosity syndrome 0.000 amaurosis 0.000 subclavian steal syndrome 0.000 splenic marginal zone lymphoma 0.000 Vascular dementia 0.000 SPS 0.000 SIADH 0.000 dyschondroplasia 0.000 SCA1 0.000 esophageal spasm 0.000 thyroid storm 0.000 complicated pregnancy 0.000 Wolfram syndrome 0.000 Disorder 0.000 bipolar disorder 0.000 FTLD 0.000 nutritional disorder 0.000 EMA 0.000 goiter 0.000 Tay-Sachs disease 0.000 entropion 0.000 liver fibrosis 0.000 Acute Stroke 0.000 Neuromuscular blockade 0.000 CNS diseases 0.000 diplopia 0.000 renal disease 0.000 immune deficiency 0.000 Leber's hereditary optic neuropathy 0.000 external ear 0.000 MPS VI 0.000 ADA deficiency 0.000 Gitelman syndrome 0.000 CDT 0.000 schizophrenia 0.000 phimosis 0.000 behavior disorder 0.000 aphasia 0.000 hypopyon 0.000 paroxysmal tachycardia 0.000 Iodine deficiency 0.000 communication disorder 0.000 MRD 0.000 calcinosis 0.000 PTP 0.000 DYT1 0.000 SWS 0.000 VPI 0.000 agnosia 0.000 agranulocytosis 0.000 dacryocystitis 0.000 Giant 0.000 marasmus 0.000 tracheobronchitis 0.000 neurogenic bladder 0.000 Toxic epidermal necrolysis 0.000 Malignant peripheral nerve sheath tumor 0.000 conjunctiva 0.000 idiopathic cardiomyopathy 0.000 cerebral infarction 0.000 REM sleep behavior disorder 0.000 Bartter's syndrome 0.000 hypersplenism 0.000 dementia 0.000 Emery-Dreifuss muscular dystrophy 0.000 collagen disease 0.000 hemosiderosis 0.000 hemolytic anemia 0.000 protein deficiency 0.000 Gaucher disease 0.000 torsion dystonia 0.000 vulvovaginitis 0.000 liver disease 0.000 organic disease 0.000 Deafness 0.000 Junin 0.000 LMS 0.000 LMS 0.000 sicca syndrome 0.000 biliary colic 0.000 meningitis 0.000 neuromyotonia 0.000 acute renal failure 0.000 Angiosarcoma 0.000 autoimmune thyroiditis 0.000 cytomegalovirus 0.000 epiphora 0.000 bradyarrhythmia 0.000 moyamoya 0.000 fibrocystic disease 0.000 panuveitis 0.000 Congenital anomalies 0.000 incoherence 0.000 Edwards 0.000 Perthes disease 0.000 Diaphragm 0.000 Cockayne syndrome 0.000 HFA 0.000 Deep vein thrombosis 0.000 dysphonia 0.000 EMC 0.000 visual dysfunction 0.000 megacolon 0.000 sick sinus syndrome 0.000 hyperinsulinemia 0.000 hypotrichosis 0.000 sensory disturbance 0.000 hypofibrinogenemia 0.000 CHS 0.000 hepatitis 0.000 IVA 0.000 parathyroid hyperplasia 0.000 lung disease 0.000 meningococcal infection 0.000 conjunctivitis 0.000 cold 0.000 Class III malocclusion 0.000 collagen disease 0.000 juvenile myelomonocytic leukemia 0.000 recurrent urinary tract infection 0.000 mastocytosis 0.000 iridocyclitis 0.000 otitis media 0.000 hyperphosphatemia 0.000 Neuroblastoma 0.000 Neuroblastoma 0.000 laryngospasm 0.000 streptococcal infection 0.000 gonadal dysgenesis 0.000 dermoid cyst 0.000 migraine 0.000 chondromatosis 0.000 viral meningitis 0.000 neuroblastoma 0.000 toxemia 0.000 congestive heart failure 0.000 alkalosis 0.000 gout 0.000 DDD 0.000 blood disorder 0.000 Zinc deficiency 0.000 endocrine disorder 0.000 vascular obstruction 0.000 ISH 0.000 blepharitis 0.000 SIRS 0.000 Klippel 0.000 paralytic ileus 0.000 chronic glomerulonephritis 0.000 ureter 0.000 Cowden syndrome 0.000 cystinosis 0.000 myelitis 0.000 abortion 0.000 Wilson's disease 0.000 testicular feminization 0.000 persistent pulmonary hypertension of the newborn 0.000 stress incontinence 0.000 hypercalciuria 0.000 vitamin C deficiency 0.000 MMA 0.000 pernicious anemia 0.000 pancreatitis 0.000 Bladder 0.000 Bladder 0.000 abruptio placentae 0.000 Bladder 0.000 encephalomyelitis 0.000 abnormal involuntary movements 0.000 bacterial meningitis 0.000 celiac disease 0.000 gastrointestinal infection 0.000 EMD 0.000 keratopathy 0.000 cirrhosis 0.000 telangiectasia 0.000 MPS I 0.000 leptomeningeal metastases 0.000 nervous system infection 0.000 Borna disease 0.000 viral diarrhea 0.000 chest infection 0.000 Raynaud's phenomenon 0.000 Angiostrongylus cantonensis 0.000 Brugada syndrome 0.000 dermatitis 0.000 pyelonephritis 0.000 FDC 0.000 corneal dystrophy 0.000 eye disease 0.000 anterograde amnesia 0.000 obsession 0.000 Usher syndrome 0.000 emotional stress 0.000 paroxysmal nocturnal hemoglobinuria 0.000 Crouzon syndrome 0.000 gastroenteritis 0.000 CVS 0.000 CREST 0.000 viral pneumonia 0.000 hypernatremia 0.000 folate deficiency 0.000 Apert syndrome 0.000 BCH 0.000 pathological fracture 0.000 Esophageal 0.000 pseudoxanthoma elasticum 0.000 meningococcal meningitis 0.000 premature labor 0.000 primary pulmonary hypertension 0.000 medulloblastoma 0.000 renal insufficiency 0.000 metabolic alkalosis 0.000 Congenital heart disease 0.000 carditis 0.000 raised intracranial pressure 0.000 interstitial lung disease 0.000 Medulloblastoma 0.000 spinal stenosis 0.000 multinodular goiter 0.000 tricuspid regurgitation 0.000 Brown 0.000 refractive error 0.000 rickettsiosis 0.000 autoimmune hemolytic anemia 0.000 adrenal adenoma 0.000 SDS 0.000 PMS 0.000 polyposis 0.000 macular degeneration 0.000 Wernicke's encephalopathy 0.000 Sleep disturbance 0.000 lipid disorder 0.000 type 2 diabetes 0.000 necrotizing enterocolitis 0.000 CLN3 0.000

Symptom hypotonia 1.000 seizures 0.002 ataxia 0.002 weakness 0.002 hypertonia 0.001 benign congenital hypotonia 0.001 spasticity 0.001 lethargy 0.001 dystonia 0.000 athetosis 0.000 Abnormal muscle tone 0.000 Tongue fasciculations 0.000 hepatomegaly 0.000 dysarthria 0.000 cerebellar ataxia 0.000 clumsiness 0.000 chorea 0.000 Hyperirritability 0.000 respiratory distress 0.000 abnormal breathing 0.000 abnormal head movement 0.000 ophthalmoplegia 0.000 hepatosplenomegaly 0.000 Dysdiadochokinesis 0.000 constipation 0.000 cyanosis 0.000 vomiting 0.000 drooling 0.000 ataxic gait 0.000 Respiratory abnormalities 0.000 intention tremor 0.000 tremor 0.000 incoordination 0.000 sleepiness 0.000 myoclonus 0.000 Intermittent fever 0.000 staggering gait 0.000 Sensory ataxia 0.000 Hypersomnolence 0.000 tachypnea 0.000 Limb weakness 0.000 Flaccid paralysis 0.000 waxy flexibility 0.000 prominent nose 0.000 delayed language development 0.000 pallor 0.000 stridor 0.000 dyslalia 0.000 paresis 0.000 Pyramidal signs 0.000 abnormal gait 0.000 monoplegia 0.000 Fatigability 0.000 clonus 0.000 cold sweats 0.000 hypothermia 0.000 Floppy 0.000 hemiplegia 0.000 apathy 0.000 anesthesia 0.000 ketonuria 0.000 respiratory problem 0.000 tonic-clonic seizure 0.000 partial seizure 0.000 facial droop 0.000 thinning 0.000 muscle stiffness 0.000 General symptoms 0.000 excessive sweating 0.000 torticollis 0.000 brittle nails 0.000 snoring 0.000 catatonia 0.000 Skin symptoms 0.000 Ataxic 0.000 asthenia 0.000 chronic constipation 0.000 Hyperekplexia 0.000 Parkinsonian tremor 0.000 Extrapyramidal symptoms 0.000 bradypnea 0.000 hyperacusis 0.000 diarrhea 0.000 asterixis 0.000 Crawling 0.000 polyuria 0.000 dry skin 0.000 Macula 0.000 photopsia 0.000 paraparesis 0.000 fasciculation 0.000 chromosome marker 0.000 muscle cramps 0.000 dyspnea 0.000 startle reaction 0.000 hypercapnia 0.000 hypersomnia 0.000 joint stiffness 0.000 muscle rigidity 0.000 hypalgesia 0.000 polydipsia 0.000 pain 0.000 arm weakness 0.000 generalized pain 0.000 giddiness 0.000 giddiness 0.000 spasm 0.000 labored breathing 0.000 tonic seizure 0.000 agitation 0.000 anorexia 0.000 pedal edema 0.000 inanition 0.000 twitching 0.000 dizziness 0.000 collapse 0.000 aphonia 0.000 auditory hallucination 0.000 emaciation 0.000 eds 0.000 neck stiffness 0.000 splenomegaly 0.000 dark urine 0.000 lassitude 0.000 visual hallucination 0.000 cough 0.000 numbness 0.000 myalgia 0.000 Psychiatric symptoms 0.000 meningism 0.000 prostration 0.000 fatigue 0.000 clubbing 0.000 paresthesia 0.000 Involuntary Movement 0.000 enuresis 0.000 headache 0.000 hunger 0.000 motor symptom 0.000 nausea 0.000 hypoproteinemia 0.000 Catch 0.000 hyperesthesia 0.000 tingling 0.000 analgesia 0.000 syncope 0.000 shortness of breath 0.000 bradykinesia 0.000 presyncope 0.000 asynergy 0.000 regurgitation 0.000 leg edema 0.000 photophobia 0.000 hoarseness 0.000 vertigo 0.000 oliguria 0.000 livedo 0.000 insomnia 0.000 abdominal pain 0.000 overweight 0.000 DNA marker 0.000 dysesthesia 0.000 tense 0.000 Stiffness 0.000 blepharospasm 0.000 nasal congestion 0.000 decreased appetite 0.000 sore throat 0.000 cachexia 0.000 anosmia 0.000 physical appearance 0.000 flushing 0.000 bloating 0.000 hypocapnia 0.000 neuralgia 0.000 acute abdominal pain 0.000 blurred vision 0.000 fever of unknown origin 0.000 erythema 0.000 rhinorrhea 0.000 ENT 0.000 nausea and vomiting 0.000 chest pain 0.000 knee pain 0.000 acute abdomen 0.000 colic 0.000 angina 0.000 epigastric pain 0.000 memory loss 0.000 neck pain 0.000 starvation 0.000 pelvic pain 0.000 low back pain 0.000 wheezing 0.000 back pain 0.000 discomfort 0.000 exhaustion 0.000 discomfort 0.000 hemoptysis 0.000 tinnitus 0.000 distraction 0.000 Ill 0.000

Drug Lithium citrate 0.000 Pro-Banthine 0.000 Bromisoval 0.000 Thyradin 0.000 Flurbiprofen axetil 0.000 Aldurazyme 0.000 Aldurazyme 0.000 Lioresal 0.000 Talwin 0.000 Myozyme 0.000 Mestinon 0.000 Vitamin B12 0.000 Ipecac 0.000 Lomotil 0.000 Lomotil 0.000 Carbidopa 0.000 Cobalamin 0.000 Talwin 0.000 Miglustat 0.000 Somatropin 0.000 CSF 0.000 BH4 0.000 Zmax 0.000 Brotizolam 0.000 Pyridostigmine bromide 0.000 Buscopan 0.000 Indocid 0.000 Sinemet 0.000 DM1 0.000 Sodium benzoate 0.000 Vitamin B 0.000 Dantrolene sodium 0.000 Cinnarizine 0.000 C3F8 0.000 Rocuronium 0.000 NLF 0.000 GVG 0.000 NADH 0.000 Dihydroergotamine 0.000 Growth hormone 0.000 Medetomidine 0.000 Pramipexole 0.000 Ipratropium bromide 0.000 lysine 0.000 Pramipexole 0.000 Sinemet 0.000 SF6 0.000 Sinemet 0.000 Growth hormone 0.000 MDS 0.000 Magnesium sulfate 0.000 Sucralfate 0.000 Azithromycin 0.000 NovoSeven 0.000 EDR 0.000 OTC 0.000 Dexon 0.000 Perindopril 0.000 Meconium 0.000 Guanidine 0.000 Guanidine 0.000 Eculizumab 0.000 Tao 0.000 Lugol 0.000 Liraglutide 0.000 OTC 0.000 Orion 0.000 Leucovorin 0.000 Vicryl 0.000 Apomorphine 0.000 Clofibrate 0.000 Scopolamine 0.000 Viagra 0.000 Glucagon 0.000 Clonidine 0.000 citric acid 0.000 pyridoxal phosphate 0.000 HCG 0.000 Colistin 0.000 Adenosine deaminase 0.000 DMSA 0.000 9-THC 0.000 Bupivacaine 0.000 Riboflavin 0.000 TEL 0.000 ADM 0.000 Xanthium 0.000 Posture 0.000 Prednisone 0.000 Spectrum 0.000 Galactose 0.000 Portal 0.000 DMAP 0.000 DPA 0.000 CTC 0.000 Honey 0.000 CTA 0.000 MgSO4 0.000 Bayer 0.000 VCR 0.000 TAC 0.000 Diurnal 0.000 Norplant 0.000 TTC 0.000 PCB 0.000 Spectrum 0.000 Frontal 0.000 DMI 0.000 Dakar 0.000 Paraffin 0.000 FAD 0.000 ascorbate 0.000 vitamin E 0.000 CaCl2 0.000 CaCl2 0.000 Ringer's solution 0.000 CaCl2 0.000 Vitamin E 0.000 HCH 0.000 niacin 0.000 ENT 0.000 p75 0.000 lactose 0.000 Adriamycin 0.000 Dermatol 0.000 caffeine 0.000 Histamine 0.000 Indomethacin 0.000 PTH 0.000 Nephron 0.000 ABC 0.000 nitroglycerin 0.000 Dial 0.000 MAP 0.000 ampicillin 0.000 Asthma 0.000 IL-2 0.000 Monit 0.000 Cardiovasc 0.000

Enzyme biotinidase 0.000 aspartoacylase 0.000 phosphatidylinositol N-acetylglucosaminyltransferase 0.000 glutaryl-CoA dehydrogenase 0.000 phosphomannomutase 0.000 lysyl hydroxylase 0.000 complex I 0.000 ribonuclease alpha 0.000 dihydroxyacetone phosphate acyltransferase 0.000 cytochrome oxidase 0.000 methylglutaconyl coenzyme A hydratase 0.000 3-hydroxyisobutyryl-CoA hydrolase 0.000 creatine kinase 0.000 adenylosuccinate lyase 0.000 pyruvate dehydrogenase 0.000 3-hydroxy-3-methylglutaryl-CoA lyase 0.000 pterin-4alpha-carbinolamine dehydratase 0.000 mannosyl-oligosaccharide glucosidase 0.000 galactosyltransferase II 0.000 acyl-CoA dehydrogenase 0.000 spermine synthase 0.000 succinic semialdehyde dehydrogenase 0.000 methylcrotonyl-CoA carboxylase 0.000 branching enzyme 0.000 branched-chain acyl-CoA dehydrogenase 0.000 sepiapterin reductase 0.000 guanidinoacetate methyltransferase 0.000 EC 2.4.99.4 0.000 acyl-CoA dehydrogenase 0.000 glycine decarboxylase 0.000 electron transfer flavoprotein dehydrogenase 0.000 methylmalonyl-CoA mutase 0.000 alkylglycerol monooxygenase 0.000 PRPP synthetase 0.000 propionyl-CoA carboxylase 0.000 AIR synthetase 0.000 glycerate kinase 0.000 2-oxoglutarate decarboxylase 0.000 deoxyguanosine kinase 0.000 propionyl-CoA carboxylase 0.000 pyruvate dehydrogenase 0.000 pyruvate dehydrogenase 0.000 sulfur dioxygenase 0.000 GABA transaminase 0.000 GTP cyclohydrolase I 0.000 beta-ureidopropionase 0.000 fucokinase 0.000 3-hydroxyacyl-CoA dehydrogenase 0.000 S-adenosyl-L-homocysteine hydrolase 0.000 long-chain acyl-coenzyme A dehydrogenase 0.000 fumarase 0.000 dihydropteridine reductase 0.000 6-pyruvoyltetrahydropterin synthase 0.000 sulfite oxidase 0.000 pyruvate carboxylase 0.000 arylsulfatase A 0.000 dihydroxyacetone-phosphate acyltransferase 0.000 sulfite oxidase 0.000 acylglycerol kinase 0.000 3-hydroxyacyl-CoA dehydrogenase 0.000 oligopeptidase B 0.000 serum carnosinase 0.000 phosphoinositide 5-phosphatase 0.000 arginyl-tRNA synthetase 0.000 N-acetylglucosaminyltransferase II 0.000 tripeptidyl peptidase 0.000 ethanolamine kinase 0.000 malonyl-CoA decarboxylase 0.000 galactocerebrosidase 0.000 methionine synthase 0.000 glycine amidinotransferase 0.000 galactosyltransferase I 0.000 methionine synthase 0.000 acyl-CoA oxidase 0.000 glucoamylase 0.000 splicing endonuclease 0.000 alpha-glucosidase 0.000 butyryl-CoA dehydrogenase 0.000 phenylalanyl-tRNA synthetase 0.000 succinate dehydrogenase 0.000 pyruvate dehydrogenase phosphatase 0.000 isovaleryl-CoA dehydrogenase 0.000 thiamine pyrophosphokinase 0.000 prolyl-tRNA synthetase 0.000 alpha-ketoglutarate dehydrogenase 0.000 sulfatase 0.000 iduronate-2-sulfatase 0.000 aspartylglucosaminidase 0.000 alpha-methylacyl-CoA racemase 0.000 ECH 0.000 lysyl-tRNA synthetase 0.000 carnosinase 0.000 LTC4 synthase 0.000 N-acetylglucosaminyltransferase 0.000 prolyl endopeptidase 0.000 fumarylacetoacetate hydrolase 0.000 T-protein 0.000 aromatic L-amino acid decarboxylase 0.000 pyruvate decarboxylase 0.000 ceruloplasmin 0.000 CTD kinase 0.000 7-dehydrocholesterol reductase 0.000 glycogenin 0.000 spermidine synthase 0.000 phosphomannose isomerase 0.000 glycine N-methyltransferase 0.000 diaphorase 0.000 homocysteine methyltransferase 0.000 mevalonate kinase 0.000 exopolyphosphatase 0.000 transaldolase 0.000 HCS 0.000 glycerol kinase 0.000 glutamyl-tRNA synthetase 0.000 Lod 0.000 phosphatidylinositol-4,5-bisphosphate 3-kinase 0.000 methionine synthase reductase 0.000 glucosylceramide synthase 0.000 beta-1,4-galactosyltransferase 0.000 KAT 0.000 phenylalanine hydroxylase 0.000 ATPase 0.000 TPP 0.000 methylenetetrahydrofolate reductase 0.000 methylenetetrahydrofolate reductase 0.000 NCP 0.000 alkaline phosphatase 0.000 sulfhydryl oxidase 0.000 pantothenate kinase 0.000 isoleucyl-tRNA synthetase 0.000 ornithine transcarbamylase 0.000 phosphorylase 0.000 dihydropyrimidinase 0.000 hexosaminidase 0.000 PDH 0.000 AMP deaminase 0.000 carbamoylphosphate synthetase 0.000 UDP-glucose dehydrogenase 0.000 acetoacetyl-CoA thiolase 0.000 ceramidase 0.000 NADH dehydrogenase 0.000 ATP synthase 0.000 dihydropyrimidine dehydrogenase 0.000 ACAT 0.000 PME 0.000 nucleotide pyrophosphatase 0.000 alpha-L-iduronidase 0.000 succinyl-CoA synthetase 0.000 adenosine kinase 0.000 mannanase 0.000 carnitine acetyltransferase 0.000 BIS 0.000 CPR 0.000 monoamine oxidase 0.000 Protein 2 0.000 IscS 0.000 diaphorase 0.000 choline kinase 0.000 DOPA decarboxylase 0.000 STK11 0.000 glutamate dehydrogenase 0.000 glutamate dehydrogenase 0.000 glutamate dehydrogenase 0.000 citrate synthase 0.000 asparagine synthetase 0.000 CPT 0.000 dihydropyrimidine dehydrogenase 0.000 CPS 0.000 TPP 0.000 CDH 0.000 transketolase 0.000 carboxypeptidase Y 0.000 HDR 0.000 hypoxanthine-guanine phosphoribosyltransferase 0.000 glucocerebrosidase 0.000 catalase 0.000 methionine adenosyltransferase 0.000 argininosuccinate synthetase 0.000 Alternating 0.000 alpha-L-fucosidase 0.000 rhodanese 0.000 aconitase 0.000 peptidyl-prolyl cis-trans isomerase 0.000 ubiquitin-protein ligase 0.000 prolyl hydroxylase 0.000 acyl-CoA synthetase 0.000 botulinum neurotoxin 0.000 aldolase 0.000 aspartate aminotransferase 0.000 S-adenosylmethionine decarboxylase 0.000 phosphorylase kinase 0.000 beta-galactosidase 0.000 phosphofructokinase 0.000 chondroitinase 0.000 ADH 0.000 choline acetyltransferase 0.000 SCS 0.000 PTPase 0.000 RNase III 0.000 APC 0.000 alanine aminotransferase 0.000 MEK 0.000 acetylcholinesterase 0.000 proteasome 0.000 sialidase 0.000 arylsulfatase 0.000 glucose-6-phosphate dehydrogenase 0.000 kinesin 0.000 ribonucleotide reductase 0.000 adenosine deaminase 0.000 acyl-CoA synthetase 0.000 adenosine deaminase 0.000 ribonucleotide reductase 0.000 RNase P 0.000 glucose-6-phosphatase 0.000 LPL 0.000 glutathione peroxidase 0.000 PGM 0.000 6-phosphogluconate dehydrogenase 0.000 6-phosphogluconate dehydrogenase 0.000 alpha-mannosidase 0.000 AST 0.000 triphosphatase 0.000 sialyltransferase 0.000 sialyltransferase 0.000 sialyltransferase 0.000 hyaluronidase 0.000 tyrosine hydroxylase 0.000 mitogen-activated protein kinase 0.000 glycerol-3-phosphate dehydrogenase 0.000 tryptophan hydroxylase 0.000 glycerol-3-phosphate dehydrogenase 0.000 lactate dehydrogenase 0.000 MEKK1 0.000 MPP 0.000 PRE 0.000 cholinesterase 0.000 chondroitinase 0.000 hyaluronidase 0.000 cholesterol acyltransferase 0.000 transglutaminase 0.000 glutamate decarboxylase 0.000 phosphoglycerate kinase 0.000 DNA methyltransferase 0.000 renin 0.000 deaminase 0.000 neuraminidase 0.000 glutathione reductase 0.000 histidine kinase 0.000 demethylase 0.000 PKG 0.000 protein kinase 0.000 histone acetyltransferase 0.000 beta-glucosidase 0.000 RNA polymerase 0.000 superoxide dismutase 0.000 ACE 0.000 protein phosphatase 2A 0.000 isocitrate dehydrogenase 0.000 STR 0.000 acid phosphatase 0.000 beta-glucosidase 0.000 isocitrate dehydrogenase 0.000 HSD 0.000 arginase 0.000 NADPH-diaphorase 0.000 elastase 0.000 alcohol dehydrogenase 0.000 calcineurin 0.000 glyceraldehyde-3-phosphate dehydrogenase 0.000 aldehyde dehydrogenase 0.000 glyceraldehyde-3-phosphate dehydrogenase 0.000 aldehyde dehydrogenase 0.000 aldehyde dehydrogenase 0.000 malate dehydrogenase 0.000 glyceraldehyde-3-phosphate dehydrogenase 0.000 IKK 0.000 MIP 0.000 glutamine synthetase 0.000 aldehyde dehydrogenase 0.000 glyceraldehyde-3-phosphate dehydrogenase 0.000 ERK 0.000 NQO1 0.000 ornithine decarboxylase 0.000 glyceraldehyde-3-phosphate dehydrogenase 0.000 aldehyde dehydrogenase 0.000 ribonuclease 0.000 ribonuclease 0.000 GSK 0.000 focal adhesion kinase 0.000 urease 0.000 NOS 0.000 MAP 0.000 carbonic anhydrase 0.000 urease 0.000 DNA polymerase 0.000 beta-glucuronidase 0.000 xanthine oxidase 0.000 caspase-3 0.000 gamma-glutamyl transpeptidase 0.000 tyrosinase 0.000 topoisomerase 0.000 transcriptase 0.000 topoisomerase 0.000 glutathione S-transferase 0.000 phosphatidylinositol 3-kinase 0.000 AMP-activated protein kinase 0.000 thromboplastin 0.000 phospholipase A2 0.000 NO synthase 0.000 RNase 0.000 RNase 0.000 phospholipase C 0.000 endonuclease 0.000 lipase 0.000 phosphodiesterase 0.000 reverse transcriptase 0.000 luciferase 0.000 trypsin 0.000 protein kinase C 0.000

Compound 3-hydroxy-isobutyryl-CoA 0.000 N-acetylaspartic acid 0.000 N-acetylaspartic acid 0.000 Succinyladenosine 0.000 C6H10O4 0.000 3-hydroxyisovaleric acid 0.000 Diphenoxylate 0.000 His 0.000 3-O-Methyldopa 0.000 Guanidinoacetic acid 0.000 S-sulfocysteine 0.000 A 3 0.000 3-methylcrotonyl-CoA 0.000 GA1 0.000 6-pyruvoyltetrahydropterin 0.000 2-phenyl-1,3-propanediol 0.000 Succinyl-CoA 0.000 N-acetylaspartate 0.000 DHCA 0.000 URP 0.000 DNA 0.000 propionyl-coenzyme A 0.000 SAICAR 0.000 gamma-hydroxybutyric acid 0.000 MCA 0.000 MCA 0.000 Cobalamin 0.000 Pipecolic acid 0.000 Clin 0.000 hydroxyglutarate 0.000 DDC 0.000 hexacosanoic acid 0.000 DDC 0.000 L-carnitine 0.000 adenylosuccinate 0.000 Hydroxylysine 0.000 DMD 0.000 Monastral Blue 0.000 Baclofen 0.000 Sudan I 0.000 gamma-aminobutyric acid 0.000 piperidine-2-carboxylic acid 0.000 Dec 0.000 Guo 0.000 Cytochrome c 0.000 coenzyme Q10 0.000 Clobazam 0.000 Pterin 0.000 CoA 0.000 CLTC 0.000 Clonazepam 0.000 Pyridostigmine 0.000 Succinylcholine 0.000 folinic acid 0.000 ABPP 0.000 Tetrahydrobiopterin 0.000 5-hydroxytryptophan 0.000 Pyridoxine 0.000 Dantrolene sodium 0.000 Hydroxocobalamin 0.000 Guo 0.000 DDC 0.000 DPM 0.000 A 1 0.000 2,5-dichlorophenol 0.000 4-oxobutanoic acid 0.000 Relaxant 0.000 erythrose-4-phosphate 0.000 Maprotiline 0.000 homocysteine 0.000 suberic acid 0.000 2-oxoadipate 0.000 MAOA 0.000 Triphosphate 0.000 dolichyl-phosphate 0.000 neopterin 0.000 Coenzyme Q10 0.000 Rocuronium 0.000 pyrroline-5-carboxylate 0.000 ubiquinone 0.000 Dextromethorphan 0.000 Felbamate 0.000 isoleucine 0.000 2-Oxoglutarate 0.000 Dolichol 0.000 glutaryl-CoA 0.000 decarboxylated S-adenosylmethionine 0.000 GABA 0.000 MAK 0.000 isoleucine 0.000 Vigabatrin 0.000 COA 0.000 GABA 0.000 NADH 0.000 Ethosuximide 0.000 Desflurane 0.000 Ziprasidone 0.000 Dantrolene 0.000 P 2 0.000 N-Acetylglucosamine 0.000 GM2 0.000 betaine 0.000 pteridine 0.000 hydroxyindoleacetic acid 0.000 Thiamine 0.000 Oxcarbazepine 0.000 CoQ 0.000 MGA 0.000 10-formyltetrahydrofolate 0.000 Arecoline 0.000 Carbamate 0.000 calcium 0.000 Lip 0.000 arginine 0.000 OCDD 0.000 valine 0.000 CH3-THF 0.000 BCM 0.000 5-HIAA 0.000 leucine 0.000 Pentazocine 0.000 sebacic acid 0.000 sebacic acid 0.000 Methoxamine 0.000 3-hydroxybutyric acid 0.000 carbamyl phosphate 0.000 lysine 0.000 Ryanodine 0.000 glucose 0.000 Creatine 0.000 sebacic acid 0.000 Topiramate 0.000 Biotin 0.000 ornithine 0.000 ornithine 0.000 ornithine 0.000 ornithine 0.000 ornithine 0.000 Ephedrine 0.000 Sucralfate 0.000 ACTH 0.000 TSH 0.000 HVA 0.000 vitamin D 0.000 Magnesium sulfate 0.000 Sialic acid 0.000 Dopa 0.000 2-pyrrolidinone 0.000 glutamate 0.000 Carnitine 0.000 Ile 0.000 GTP 0.000 glutamic acid 0.000 Perindopril 0.000 2-oxoglutarate 0.000 Magnesium sulfate 0.000 malonyl-CoA 0.000 LTA4 0.000 S-adenosylhomocysteine 0.000 PAS 0.000 Thyroid 0.000 Sevoflurane 0.000 BAF 0.000 glutamine 0.000 barium 0.000 acetylglutamate 0.000 Lamotrigine 0.000 ammonia 0.000 PBD 0.000 galactose 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