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	hydrocephalus

Disease ID	549
Disease	hydrocephalus
Definition	Excessive accumulation of cerebrospinal fluid within the cranium which may be associated with dilation of cerebral ventricles, INTRACRANIAL HYPERTENSION; HEADACHE; lethargy; URINARY INCONTINENCE; and ATAXIA.
Synonym	hydrencephalus hydrencephaly hydrocephalus (disorder) hydrocephalus [disease/finding] hydrocephaly nonsyndromal hydrocephalus water on the brain
OMIM	OMIM:236600
DOID	DOID:10908
UMLS	C0020255
MeSH	D006849
SNOMED-CT	SNOMEDCT_US_2016_09_01:230745008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:121) C0025289 \| meningitis \| 24 C0041318 \| tuberculous meningitis \| 13 C0151740 \| increased intracranial pressure \| 8 C0080178 \| spina bifida \| 7 C0221355 \| macrocephaly \| 5 C0078981 \| arachnoid cyst \| 5 C0151740 \| raised intracranial pressure \| 5 C0151740 \| intracranial hypertension \| 5 C0041318 \| tubercular meningitis \| 4 C0037198 \| sinus thrombosis \| 3 C0020538 \| hypertension \| 3 C0007785 \| cerebral infarct \| 3 C0010964 \| dandy-walker malformation \| 3 C0036202 \| sarcoidosis \| 3 C0151740 \| elevated intracranial pressure \| 3 C0027809 \| schwannoma \| 2 C0151860 \| porencephaly \| 2 C0013384 \| dyskinesia \| 2 C0039144 \| syringomyelia \| 2 C0026709 \| mps vi \| 2 C0014544 \| epilepsy \| 2 C0155285 \| orbital cyst \| 2 C0040558 \| toxoplasmosis \| 2 C0162429 \| malnourished \| 2 C0007766 \| cranial aneurysm \| 2 C0040053 \| thrombosis \| 2 C0266463 \| lissencephaly \| 2 C0007785 \| cerebral infarction \| 2 C0085437 \| bacterial meningitis \| 2 C0497327 \| dementia \| 2 C0027859 \| vestibular schwannomas \| 2 C0010276 \| craniopharyngioma \| 2 C0917996 \| cerebral aneurysm \| 2 C0025149 \| medulloblastoma \| 2 C0002395 \| alzheimer's disease \| 2 C0001080 \| achondroplasia \| 2 C0027859 \| vestibular schwannoma \| 2 C0007766 \| intracranial aneurysm \| 2 C0018378 \| guillain-barre syndrome \| 1 C1334271 \| intraventricular meningioma \| 1 C0206734 \| hemangioblastoma \| 1 C0020258 \| normal pressure hydrocephalus \| 1 C0338451 \| frontotemporal dementia \| 1 C0026934 \| mycoplasma \| 1 C0039538 \| teratoma \| 1 C0085404 \| poems syndrome \| 1 C0011649 \| dermoid \| 1 C0022116 \| ischaemia \| 1 C0002395 \| alzheimer disease \| 1 C0085273 \| parvovirus b19 infection \| 1 C0008780 \| primary ciliary dyskinesia \| 1 C0268583 \| methylmalonic aciduria \| 1 C0078981 \| arachnoid cysts \| 1 C0686377 \| cns metastasis \| 1 C0220650 \| brain metastases \| 1 C0012569 \| diplopia \| 1 C0010273 \| crouzon's syndrome \| 1 C0006111 \| brain disorder \| 1 C0025309 \| meningoencephalitis \| 1 C0041341 \| phacomatosis \| 1 C0524851 \| neurodegenerative disorders \| 1 C0265343 \| jarcho-levin syndrome \| 1 C0043092 \| wegener's granulomatosis \| 1 C0031154 \| peritonitis \| 1 C0003873 \| rheumatoid arthritis \| 1 C0010278 \| craniosynostosis \| 1 C0270639 \| lateral sinus thrombosis \| 1 C0025149 \| medulloblastomas \| 1 C0238198 \| gastrointestinal stromal tumor \| 1 C0026703 \| mucopolysaccharidosis \| 1 C0032302 \| mycoplasma pneumonia \| 1 C0018916 \| hemangioma \| 1 C0003466 \| imperforate anus \| 1 C0018931 \| hematocele \| 1 C0041296 \| tuberculosis \| 1 C0021400 \| influenza \| 1 C1704231 \| leptomeningeal metastasis \| 1 C0024523 \| malabsorption \| 1 C0017205 \| gaucher disease \| 1 C0085113 \| neurofibromatosis \| 1 C0026780 \| mumps \| 1 C0027859 \| acoustic neuroma \| 1 C0205770 \| choroid plexus papilloma \| 1 C0006111 \| brain disorders \| 1 C0009241 \| cognitive disorders \| 1 C0007785 \| cerebral infarcts \| 1 C0011649 \| dermoid cyst \| 1 C0023521 \| krabbe disease \| 1 C1332900 \| cerebellar hemangioblastoma \| 1 C1527390 \| intracranial tumor \| 1 C0205898 \| pineoblastoma \| 1 C0004114 \| astrocytoma \| 1 C0029124 \| optic atrophy \| 1 C0272412 \| splenic abscess \| 1 C0007789 \| cerebral palsy \| 1 C1527390 \| intracranial tumors \| 1 C0025362 \| mental retardation \| 1 C0085315 \| cns toxoplasmosis \| 1 C0032285 \| pneumoniae \| 1 C0027858 \| neuromas \| 1 C0879615 \| stromal tumor \| 1 C0338575 \| sagittal sinus thrombosis \| 1 C0679466 \| cognitive deficits \| 1 C0032285 \| pneumonia \| 1 C0026709 \| mucopolysaccharidosis type vi \| 1 C0553662 \| juvenile ra \| 1 C0426970 \| spastic quadriplegia \| 1 C0027873 \| neuromyelitis optica \| 1 C0206620 \| hygroma \| 1 C0035309 \| retinal disease \| 1 C1704231 \| leptomeningeal metastases \| 1 C0003857 \| arteriovenous malformation \| 1 C0028326 \| noonan syndrome \| 1 C0026850 \| muscular dystrophy \| 1 C0334583 \| pilocytic astrocytoma \| 1 C0010273 \| crouzon syndrome \| 1 C0085220 \| cerebral amyloid angiopathy \| 1 C0154653 \| chronic meningitis \| 1 C0752347 \| dementia with lewy bodies \| 1 C0027859 \| acoustic neuromas \| 1 C0080178 \| spinal dysraphism \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 55764 \| IFT122 \| CTD_human 729920 \| ISPD \| CTD_human 54768 \| HYDIN \| CTD_human 440193 \| CCDC88C \| CLINVAR 7055 \| THAS \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 1636 \| ACE \| CIPHER 55764 \| IFT122 \| CTD_human 729920 \| ISPD \| CTD_human 54768 \| HYDIN \| CTD_human 7055 \| THAS \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:273) 176 \| ACAN \| 1.473 \| DISEASES 9719 \| ADAMTSL2 \| 1.671 \| DISEASES 113179 \| ADAT3 \| 1.591 \| DISEASES 84890 \| ADO \| 2.018 \| DISEASES 125061 \| AFMID \| 1.845 \| DISEASES 174 \| AFP \| 3.571 \| DISEASES 84871 \| AGBL4 \| 2.849 \| DISEASES 60509 \| AGBL5 \| 3.155 \| DISEASES 199 \| AIF1 \| 1.476 \| DISEASES 501 \| ALDH7A1 \| 2 \| DISEASES 257 \| ALX3 \| 2.23 \| DISEASES 8905 \| AP1S2 \| 1.601 \| DISEASES 361 \| AQP4 \| 4.118 \| DISEASES 10564 \| ARFGEF2 \| 2.398 \| DISEASES 393 \| ARHGAP4 \| 1.451 \| DISEASES 8289 \| ARID1A \| 1.298 \| DISEASES 200894 \| ARL13B \| 1.205 \| DISEASES 9048 \| ARTN \| 1.616 \| DISEASES 427 \| ASAH1 \| 5.814 \| DISEASES 259266 \| ASPM \| 1.363 \| DISEASES 51761 \| ATP8A2 \| 1.735 \| DISEASES 546 \| ATRX \| 2.754 \| DISEASES 342371 \| ATXN1L \| 2.392 \| DISEASES 551 \| AVP \| 2.598 \| DISEASES 554 \| AVPR2 \| 1.93 \| DISEASES 148789 \| B3GALNT2 \| 2.967 \| DISEASES 63827 \| BCAN \| 1.924 \| DISEASES 627 \| BDNF \| 1.317 \| DISEASES 80114 \| BICC1 \| 1.198 \| DISEASES 10438 \| C1D \| 1.787 \| DISEASES 815 \| CAMK2A \| 1.151 \| DISEASES 57545 \| CC2D2A \| 2.297 \| DISEASES 79140 \| CCDC28B \| 2.114 \| DISEASES 114800 \| CCDC85A \| 2.552 \| DISEASES 317762 \| CCDC85C \| 4.202 \| DISEASES 440193 \| CCDC88C \| 3.223 \| DISEASES 23607 \| CD2AP \| 1.659 \| DISEASES 959 \| CD40LG \| 2.656 \| DISEASES 80184 \| CEP290 \| 1.335 \| DISEASES 1066 \| CES1 \| 1.271 \| DISEASES 1069 \| CETN2 \| 1.335 \| DISEASES 1186 \| CLCN7 \| 1.414 \| DISEASES 1269 \| CNR2 \| 1.437 \| DISEASES 6900 \| CNTN2 \| 1.165 \| DISEASES 27255 \| CNTN6 \| 2.837 \| DISEASES 1280 \| COL2A1 \| 1.113 \| DISEASES 1282 \| COL4A1 \| 1.167 \| DISEASES 1376 \| CPT2 \| 1.266 \| DISEASES 286204 \| CRB2 \| 3.002 \| DISEASES 92359 \| CRB3 \| 1.738 \| DISEASES 27297 \| CRCP \| 3.034 \| DISEASES 9244 \| CRLF1 \| 3.949 \| DISEASES 57703 \| CWC22 \| 3.308 \| DISEASES 192668 \| CYS1 \| 1.626 \| DISEASES 51473 \| DCDC2 \| 1.051 \| DISEASES 1641 \| DCX \| 1.324 \| DISEASES 140850 \| DEFB127 \| 2.79 \| DISEASES 79947 \| DHDDS \| 1.421 \| DISEASES 10301 \| DLEU1 \| 2.114 \| DISEASES 127343 \| DMBX1 \| 1.743 \| DISEASES 123872 \| DNAAF1 \| 2.743 \| DISEASES 352909 \| DNAAF3 \| 2.374 \| DISEASES 127602 \| DNAH14 \| 2.591 \| DISEASES 374407 \| DNAJB13 \| 2.59 \| DISEASES 22845 \| DOLK \| 1.462 \| DISEASES 25911 \| DPCD \| 3.126 \| DISEASES 1826 \| DSCAM \| 1.097 \| DISEASES 1855 \| DVL1 \| 1.362 \| DISEASES 161582 \| DYX1C1 \| 1.163 \| DISEASES 1875 \| E2F5 \| 2.253 \| DISEASES 55862 \| ECHDC1 \| 1.403 \| DISEASES 1910 \| EDNRB \| 2.165 \| DISEASES 1995 \| ELAVL3 \| 1.001 \| DISEASES 2009 \| EML1 \| 1.444 \| DISEASES 2018 \| EMX2 \| 1.017 \| DISEASES 2116 \| ETV2 \| 1.816 \| DISEASES 10640 \| EXOC5 \| 1.88 \| DISEASES 5394 \| EXOSC10 \| 2.098 \| DISEASES 2159 \| F10 \| 1.198 \| DISEASES 2152 \| F3 \| 1.688 \| DISEASES 2153 \| F5 \| 1.551 \| DISEASES 2155 \| F7 \| 1.266 \| DISEASES 2157 \| F8 \| 1.89 \| DISEASES 2170 \| FABP3 \| 1.208 \| DISEASES 2187 \| FANCB \| 2.461 \| DISEASES 55120 \| FANCL \| 1.194 \| DISEASES 2200 \| FBN1 \| 1.462 \| DISEASES 2260 \| FGFR1 \| 1.537 \| DISEASES 2263 \| FGFR2 \| 3.053 \| DISEASES 2261 \| FGFR3 \| 2.641 \| DISEASES 79147 \| FKRP \| 2.984 \| DISEASES 2316 \| FLNA \| 2.324 \| DISEASES 2296 \| FOXC1 \| 3.831 \| DISEASES 2303 \| FOXC2 \| 1.184 \| DISEASES 2302 \| FOXJ1 \| 3.625 \| DISEASES 93986 \| FOXP2 \| 2.127 \| DISEASES 158326 \| FREM1 \| 1.28 \| DISEASES 55691 \| FRMD4A \| 1.671 \| DISEASES 53827 \| FXYD5 \| 1.109 \| DISEASES 8326 \| FZD9 \| 2.346 \| DISEASES 2668 \| GDNF \| 1.343 \| DISEASES 2731 \| GLDC \| 1.846 \| DISEASES 2737 \| GLI3 \| 1.081 \| DISEASES 2741 \| GLRA1 \| 1.021 \| DISEASES 647309 \| GMNC \| 2.706 \| DISEASES 2239 \| GPC4 \| 1.361 \| DISEASES 10082 \| GPC6 \| 1.289 \| DISEASES 3020 \| H3F3A \| 1.961 \| DISEASES 9001 \| HAP1 \| 1.011 \| DISEASES 3045 \| HBD \| 1.362 \| DISEASES 3083 \| HGFAC \| 2.038 \| DISEASES 8350 \| HIST1H3A \| 1.228 \| DISEASES 8352 \| HIST1H3C \| 1.015 \| DISEASES 8351 \| HIST1H3D \| 1.228 \| DISEASES 8353 \| HIST1H3E \| 1.02 \| DISEASES 8968 \| HIST1H3F \| 1.228 \| DISEASES 8355 \| HIST1H3G \| 1.228 \| DISEASES 8357 \| HIST1H3H \| 1.228 \| DISEASES 8354 \| HIST1H3I \| 1.228 \| DISEASES 8356 \| HIST1H3J \| 1.018 \| DISEASES 3142 \| HLX \| 2.155 \| DISEASES 3198 \| HOXA1 \| 1.005 \| DISEASES 219844 \| HYLS1 \| 2.015 \| DISEASES 3423 \| IDS \| 1.12 \| DISEASES 8100 \| IFT88 \| 3.333 \| DISEASES 3481 \| IGF2 \| 1.415 \| DISEASES 3486 \| IGFBP3 \| 1.43 \| DISEASES 386653 \| IL31 \| 1.116 \| DISEASES 3664 \| IRF6 \| 2.195 \| DISEASES 729920 \| ISPD \| 3.167 \| DISEASES 102723508 \| KANTR \| 3.88 \| DISEASES 284252 \| KCTD1 \| 2.96 \| DISEASES 124602 \| KIF19 \| 3.867 \| DISEASES 11127 \| KIF3A \| 1.888 \| DISEASES 374654 \| KIF7 \| 1.17 \| DISEASES 3897 \| L1CAM \| 5.836 \| DISEASES 10319 \| LAMC3 \| 1.436 \| DISEASES 56956 \| LHX9 \| 1.889 \| DISEASES 3980 \| LIG3 \| 1.405 \| DISEASES 8825 \| LIN7A \| 1.141 \| DISEASES 81562 \| LMAN2L \| 1.343 \| DISEASES 4125 \| MAN2B1 \| 1.003 \| DISEASES 4133 \| MAP2 \| 1.374 \| DISEASES 4216 \| MAP3K4 \| 1.347 \| DISEASES 22919 \| MAPRE1 \| 1.5 \| DISEASES 4137 \| MAPT \| 2.133 \| DISEASES 4140 \| MARK3 \| 2.879 \| DISEASES 4155 \| MBP \| 2.978 \| DISEASES 4194 \| MDM4 \| 1.03 \| DISEASES 4204 \| MECP2 \| 1.125 \| DISEASES 79104 \| MEG8 \| 1.61 \| DISEASES 8972 \| MGAM \| 1.191 \| DISEASES 145282 \| MIPOL1 \| 1.797 \| DISEASES 54903 \| MKS1 \| 1.261 \| DISEASES 4318 \| MMP9 \| 1.721 \| DISEASES 8777 \| MPDZ \| 3.315 \| DISEASES 57380 \| MRS2 \| 1.61 \| DISEASES 4487 \| MSX1 \| 1.71 \| DISEASES 4524 \| MTHFR \| 1.184 \| DISEASES 2475 \| MTOR \| 2.459 \| DISEASES 399687 \| MYO18A \| 1.903 \| DISEASES 4644 \| MYO5A \| 1.35 \| DISEASES 4649 \| MYO9A \| 2.812 \| DISEASES 4698 \| NDUFA5 \| 1.088 \| DISEASES 4739 \| NEDD9 \| 1.245 \| DISEASES 10763 \| NES \| 3.113 \| DISEASES 4763 \| NF1 \| 3.543 \| DISEASES 4771 \| NF2 \| 2.236 \| DISEASES 4774 \| NFIA \| 1.047 \| DISEASES 4781 \| NFIB \| 2.094 \| DISEASES 4782 \| NFIC \| 2.206 \| DISEASES 4784 \| NFIX \| 3.564 \| DISEASES 4803 \| NGF \| 1.773 \| DISEASES 29922 \| NME7 \| 3.343 \| DISEASES 4882 \| NPR2 \| 1.82 \| DISEASES 594857 \| NPS \| 1.743 \| DISEASES 7182 \| NR2C2 \| 1.426 \| DISEASES 7101 \| NR2E1 \| 1.394 \| DISEASES 4897 \| NRCAM \| 3.884 \| DISEASES 4905 \| NSF \| 1.287 \| DISEASES 4908 \| NTF3 \| 1.722 \| DISEASES 8481 \| OFD1 \| 2.345 \| DISEASES 10215 \| OLIG2 \| 2.445 \| DISEASES 5015 \| OTX2 \| 1.279 \| DISEASES 135138 \| PACRG \| 2.617 \| DISEASES 5048 \| PAFAH1B1 \| 2.775 \| DISEASES 5049 \| PAFAH1B2 \| 2.055 \| DISEASES 83666 \| PARP9 \| 1.636 \| DISEASES 55742 \| PARVA \| 1.033 \| DISEASES 5077 \| PAX3 \| 1.125 \| DISEASES 5080 \| PAX6 \| 1.247 \| DISEASES 54510 \| PCDH18 \| 2.028 \| DISEASES 27445 \| PCLO \| 1.984 \| DISEASES 5108 \| PCM1 \| 1.372 \| DISEASES 5136 \| PDE1A \| 1.606 \| DISEASES 55274 \| PHF10 \| 1.859 \| DISEASES 128344 \| PIFO \| 1.762 \| DISEASES 5294 \| PIK3CG \| 1.412 \| DISEASES 8502 \| PKP4 \| 1.513 \| DISEASES 10761 \| PLAC1 \| 2.141 \| DISEASES 139728 \| PNCK \| 1.422 \| DISEASES 55624 \| POMGNT1 \| 3.232 \| DISEASES 10585 \| POMT1 \| 3.796 \| DISEASES 5528 \| PPP2R5D \| 2.041 \| DISEASES 5549 \| PRELP \| 2.098 \| DISEASES 5663 \| PSEN1 \| 1.4 \| DISEASES 5725 \| PTBP1 \| 1.275 \| DISEASES 5727 \| PTCH1 \| 1.39 \| DISEASES 5728 \| PTEN \| 2.744 \| DISEASES 5730 \| PTGDS \| 2.623 \| DISEASES 5803 \| PTPRZ1 \| 2.169 \| DISEASES 5817 \| PVR \| 1.44 \| DISEASES 9444 \| QKI \| 1.089 \| DISEASES 146713 \| RBFOX3 \| 2.478 \| DISEASES 5649 \| RELN \| 1.458 \| DISEASES 5991 \| RFX3 \| 2.782 \| DISEASES 5992 \| RFX4 \| 3.606 \| DISEASES 60626 \| RIC8A \| 2.201 \| DISEASES 126432 \| RINL \| 2.81 \| DISEASES 3921 \| RPSA \| 1.073 \| DISEASES 51750 \| RTEL1 \| 1.199 \| DISEASES 388015 \| RTL1 \| 1.612 \| DISEASES 22908 \| SACM1L \| 2.42 \| DISEASES 26278 \| SACS \| 2.524 \| DISEASES 83482 \| SCRT1 \| 1.54 \| DISEASES 6391 \| SDHC \| 2.275 \| DISEASES 113675 \| SDSL \| 3.583 \| DISEASES 12 \| SERPINA3 \| 1.776 \| DISEASES 51460 \| SFMBT1 \| 2.799 \| DISEASES 10166 \| SLC25A15 \| 1.679 \| DISEASES 55315 \| SLC29A3 \| 2.299 \| DISEASES 254428 \| SLC41A1 \| 1.344 \| DISEASES 9152 \| SLC6A5 \| 1.055 \| DISEASES 133482 \| SLCO6A1 \| 1.569 \| DISEASES 9353 \| SLIT2 \| 1.327 \| DISEASES 6586 \| SLIT3 \| 1.195 \| DISEASES 23583 \| SMUG1 \| 1.302 \| DISEASES 9751 \| SNPH \| 2.809 \| DISEASES 6642 \| SNX1 \| 1.504 \| DISEASES 29887 \| SNX10 \| 2.357 \| DISEASES 81609 \| SNX27 \| 1.66 \| DISEASES 8835 \| SOCS2 \| 1.088 \| DISEASES 122809 \| SOCS4 \| 1.403 \| DISEASES 30837 \| SOCS7 \| 1.151 \| DISEASES 6658 \| SOX3 \| 1.612 \| DISEASES 79582 \| SPAG16 \| 2.464 \| DISEASES 9576 \| SPAG6 \| 3.749 \| DISEASES 79925 \| SPEF2 \| 2.936 \| DISEASES 9901 \| SRGAP3 \| 3.201 \| DISEASES 27286 \| SRPX2 \| 1.275 \| DISEASES 51684 \| SUFU \| 2.341 \| DISEASES 6887 \| TAL2 \| 1.538 \| DISEASES 10716 \| TBR1 \| 1.029 \| DISEASES 7018 \| TF \| 1.408 \| DISEASES 7042 \| TGFB2 \| 1.997 \| DISEASES 7054 \| TH \| 1.597 \| DISEASES 9220 \| TIAF1 \| 2.142 \| DISEASES 51259 \| TMEM216 \| 1.603 \| DISEASES 3842 \| TNPO1 \| 1.196 \| DISEASES 10612 \| TRIM3 \| 1.676 \| DISEASES 79989 \| TTC26 \| 2.899 \| DISEASES 150737 \| TTC30B \| 3.657 \| DISEASES 7268 \| TTC4 \| 2.184 \| DISEASES 284076 \| TTLL6 \| 2.383 \| DISEASES 113457 \| TUBA3D \| 1.04 \| DISEASES 57216 \| VANGL2 \| 3.469 \| DISEASES 7422 \| VEGFA \| 1.37 \| DISEASES 5212 \| VIT \| 1.608 \| DISEASES 7436 \| VLDLR \| 1.081 \| DISEASES 375567 \| VWC2 \| 2.63 \| DISEASES 124997 \| WDR81 \| 1.952 \| DISEASES 56897 \| WRNIP1 \| 1.105 \| DISEASES 84107 \| ZIC4 \| 1.329 \| DISEASES
Locus	(Waiting for update.)

Disease ID	549
Disease	hydrocephalus
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:133) HP:0001287 \| Meningitis \| 23 HP:0002664 \| Neoplasia \| 19 HP:0002516 \| Intracranial pressure elevation \| 18 HP:0002410 \| Aqueductal stenosis \| 17 HP:0000969 \| Dropsy \| 9 HP:0002138 \| Subarachnoid hemorrhage \| 9 HP:0030746 \| Intraventricular hemorrhage \| 9 HP:0002414 \| Spina bifida \| 8 HP:0002119 \| Ventricular dilatation \| 7 HP:0000256 \| Macrocrania \| 7 HP:0045005 \| Neural tube defect \| 6 HP:0002617 \| Aneurysmal dilatation \| 6 HP:0002475 \| Myelomeningocele \| 6 HP:0100702 \| Arachnoid cyst \| 6 HP:0007099 \| Arnold Chiari type I malformation \| 5 HP:0100543 \| Cognitive deficits \| 5 HP:0002315 \| Headaches \| 5 HP:0030692 \| Brain tumor \| 4 HP:0004944 \| Cerebral artery aneurysm \| 4 HP:0001305 \| Dandy-Walker cyst \| 3 HP:0001363 \| Early fusion of cranial sutures \| 3 HP:0003396 \| Syringomyelia \| 3 HP:0009588 \| Vestibular Schwannoma \| 3 HP:0002308 \| Chiari malformation \| 3 HP:0000822 \| Hypertension \| 3 HP:0011695 \| Cerebellar hemorrhage \| 3 HP:0010302 \| Tumor of the spinal cord \| 3 HP:0007260 \| Type II lissencephaly \| 2 HP:0009733 \| Glioma \| 2 HP:0001288 \| Gait disturbance \| 2 HP:0002885 \| Medulloblastoma \| 2 HP:0100660 \| Dyskinesis \| 2 HP:0002025 \| Narrowing of anal opening \| 2 HP:0002132 \| Porencephaly \| 2 HP:0003416 \| Spinal canal stenosis \| 2 HP:0001342 \| Intracerebral hemorrhage \| 2 HP:0002615 \| Low blood pressure \| 2 HP:0005305 \| Cerebral vein thrombosis \| 2 HP:0001339 \| Lissencephaly \| 2 HP:0001518 \| Small for gestational age \| 2 HP:0001631 \| Atria septal defect \| 2 HP:0000726 \| Dementia \| 2 HP:0100008 \| Schwann cell tumour \| 2 HP:0012444 \| Brain wasting \| 2 HP:0001268 \| Mental deterioration \| 2 HP:0030062 \| Craniopharyngioma \| 2 HP:0001144 \| Orbital cysts \| 2 HP:0004936 \| Blood clot in vein \| 2 HP:0002170 \| Intracranial hemorrhage \| 2 HP:0100790 \| Hernia \| 1 HP:0005857 \| Cervical spina bifida \| 1 HP:0012721 \| Venous malformations \| 1 HP:0002329 \| Drowsiness \| 1 HP:0002251 \| Hirschsprung megacolon \| 1 HP:0001274 \| Absent corpus callosum \| 1 HP:0009792 \| Teratoma \| 1 HP:0100022 \| Movement disorder \| 1 HP:0007100 \| Progressive ventriculomegaly \| 1 HP:0000268 \| Dolichocephaly \| 1 HP:0002902 \| Hyponatremia \| 1 HP:0001289 \| Confusion \| 1 HP:0004322 \| Stature below 3rd percentile \| 1 HP:0001297 \| Cerebral vascular events \| 1 HP:0010524 \| Agnosia \| 1 HP:0012265 \| Ciliary dyskinesia \| 1 HP:0000078 \| Genital abnormalities \| 1 HP:0002511 \| Late-onset form of familial Alzheimer disease \| 1 HP:0002079 \| Hypoplasia of the corpus callosum \| 1 HP:0011970 \| Cerebral amyloid angiopathy \| 1 HP:0002343 \| Normal-pressure hydrocephalus \| 1 HP:0012072 \| Aciduria \| 1 HP:0100021 \| Cerebral palsy \| 1 HP:0001254 \| Lethargy \| 1 HP:0010880 \| Increased nuchal translucency \| 1 HP:0001067 \| Neurofibromas \| 1 HP:0010819 \| drop attacks \| 1 HP:0030713 \| Vein of Galen malformation \| 1 HP:0002084 \| Bifid skull \| 1 HP:0012027 \| Laryngeal edema \| 1 HP:0004947 \| Arteriovenous fistula \| 1 HP:0001250 \| Seizures \| 1 HP:0001362 \| Cranial defect \| 1 HP:0001331 \| Agenesis of the septum pellucidum \| 1 HP:0001278 \| Orthostatic hypotension \| 1 HP:0100026 \| Arteriovenous malformation \| 1 HP:0000568 \| Abnormally small globe of eye \| 1 HP:0001028 \| Strawberry mark \| 1 HP:0030408 \| Pineoblastoma \| 1 HP:0012683 \| Pineal cyst \| 1 HP:0002090 \| Pneumonia \| 1 HP:0001370 \| Rheumatoid arthritis \| 1 HP:0100723 \| Gastrointestinal stroma tumor \| 1 HP:0012120 \| Methymalonicaciduria \| 1 HP:0010797 \| Hemangioblastoma \| 1 HP:0003219 \| Ethylmalonic aciduria \| 1 HP:0000651 \| Diplopia \| 1 HP:0002888 \| Ependymoma \| 1 HP:0030709 \| Myelocystocele \| 1 HP:0002024 \| Intestinal malabsorption \| 1 HP:0007033 \| Cerebellar dysplasia \| 1 HP:0009592 \| Astrocytoma \| 1 HP:0001320 \| Hypoplasia of the cerebellar vermis \| 1 HP:0005306 \| Capillary hemangioma \| 1 HP:0000572 \| Visual loss \| 1 HP:0002586 \| Peritonitis \| 1 HP:0002072 \| Chorea \| 1 HP:0004439 \| Crouzon syndrome \| 1 HP:0006880 \| Hemangioblastoma, sporadic cerebellar \| 1 HP:0008845 \| Mesomelic dwarfism \| 1 HP:0001259 \| Coma \| 1 HP:0003560 \| Muscular dystrophy \| 1 HP:0002365 \| Hypoplasia of the brainstem \| 1 HP:0004490 \| Hyperostosis of calvarial bones \| 1 HP:0000803 \| Cortical cysts \| 1 HP:0001252 \| Hypotonia \| 1 HP:0002893 \| Pituitary adenoma \| 1 HP:0001181 \| Adducted thumbs \| 1 HP:0010301 \| Spinal dysraphism \| 1 HP:0002510 \| Spastic quadriplegia \| 1 HP:0003510 \| Proportionate dwarfism \| 1 HP:0002145 \| Frontotemporal dementia \| 1 HP:0002344 \| Progressive neurologic deterioration \| 1 HP:0012704 \| Widened subarachnoid space \| 1 HP:0002181 \| Cerebral edema \| 1 HP:0001249 \| Mental retardation \| 1 HP:0030708 \| Myeloschisis \| 1 HP:0000648 \| Optic-nerve degeneration \| 1 HP:0000020 \| Bladder incontinence \| 1 HP:0200022 \| Choroid plexus papilloma \| 1 HP:0001321 \| Small cerebellum \| 1 HP:0002198 \| Enlarged fourth ventricle \| 1 HP:0100310 \| Extradural hematoma \| 1 HP:0040075 \| Hypopituitarism \| 1

Disease ID	549
Disease	hydrocephalus
Manually Symptom	UMLS \| Name(Total Manually Symptoms:83) C2707258 \| infections C2632116 \| stenosis C2364324 \| increased intracranial pressure C2096315 \| headache C2096314 \| facial pain C2029884 \| hearing loss C2020541 \| strabismus C1997217 \| low-grade glioma C1963138 \| hypertension C1963101 \| encephalopathy C1527311 \| brain edema C1455718 \| ventriculitis C1442871 \| craniosynostosis C1421317 \| urofacial syndrome C1416776 \| congenital muscular dystrophy C1336049 \| sarcoma of the spinal cord C1276004 \| bilateral trochlear nerve paresis C1141920 \| shunt infection C0854912 \| pineal germinoma C0796110 \| w syndrome C0796095 \| c syndrome C0746408 \| mass lesion C0547030 \| visual disturbance C0520731 \| retraction nystagmus C0497327 \| dementia C0426768 \| o sign C0422833 \| ent symptoms C0346308 \| pituitary macroadenoma C0340098 \| neurogenic pulmonary edema C0338591 \| transient global amnesia C0271885 \| hypothalamic obesity C0266484 \| schizencephaly C0265292 \| craniometaphyseal dysplasia C0264733 \| ventricular dilatation C0262471 \| ent problem C0242567 \| opsoclonus C0242422 \| parkinsonism C0242422 \| parkinsonian syndromes C0238074 \| chronic cor pulmonale C0232940 \| secondary amenorrhea C0221355 \| macrocephaly C0206733 \| capillary hemangioma C0205770 \| choroid plexus papilloma C0162429 \| undernutrition C0158534 \| spina bifida C0152222 \| parinaud's syndrome C0152134 \| internuclear ophthalmoplegia C0151740 \| raised intracranial pressure C0151740 \| intracranial hypertension C0151740 \| elevated intracranial pressure C0149931 \| migraine C0086543 \| cataracts C0078981 \| arachnoid cyst C0042928 \| vocal cord paralysis C0041408 \| turner syndrome C0039145 \| syringomyelia C0037939 \| spinal tumors C0036454 \| visual field defects C0036454 \| visual field defect C0030354 \| papilloma C0030167 \| pachymeningitis C0027831 \| von recklinghausen's disease C0027809 \| neurinoma C0027765 \| neurological disorder C0026650 \| dyskinesia syndrome C0025289 \| meningitis C0024299 \| malignant lymphoma C0022521 \| immotile cilia syndrome C0020635 \| hypopituitarism C0019570 \| hirschsprung's disease C0018920 \| cavernous hemangioma C0018681 \| headaches C0017638 \| gliomas C0014544 \| epilepsy C0014306 \| enophthalmos C0014038 \| encephalitis C0013604 \| oedema C0010678 \| cysticercosis C0010278 \| craniostenosis C0008780 \| ciliary dyskinesia C0007815 \| cerebrospinal fluid rhinorrhea C0007684 \| central nervous system infections C0006118 \| brain tumors
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:27) C0025289 \| meningitis \| 23 C0009814 \| stenosis \| 16 C0151740 \| increased intracranial pressure \| 12 C0080178 \| spina bifida \| 7 C0078981 \| arachnoid cyst \| 6 C0151740 \| intracranial hypertension \| 6 C0151740 \| raised intracranial pressure \| 6 C0221355 \| macrocephaly \| 5 C0039144 \| syringomyelia \| 3 C0018681 \| headache \| 3 C0013604 \| oedema \| 3 C0302598 \| ventriculitis \| 3 C0151740 \| elevated intracranial pressure \| 3 C0010278 \| craniosynostosis \| 3 C0020538 \| hypertension \| 3 C0497327 \| dementia \| 2 C0017638 \| gliomas \| 2 C0264733 \| ventricular dilatation \| 2 C0014544 \| epilepsy \| 2 C0018681 \| headaches \| 2 C1141920 \| shunt infection \| 2 C0205770 \| choroid plexus papilloma \| 1 C0085666 \| capillary hemangioma \| 1 C0020635 \| hypopituitarism \| 1 C0008780 \| ciliary dyskinesia \| 1 C0426768 \| o sign \| 1 C0006118 \| brain tumors \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:4)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs369384363	NA	440193	CCDC88C	umls:C0020255	CLINVAR	NA	0.12	NA	CCDC88C	14	91338121	G	A,C
rs387906597	21340693	652	BMP4	umls:C0020255	BeFree	A patient with anophthalmia, microphthalmia with sclerocornea, right-sided diaphragmatic hernia, and hydrocephalus was found to have a c.592C >T (p.R198X) nonsense mutation in BMP4.	0.000271442	2011	BMP4	14	53950667	G	C,A
rs387907320	NA	440193	CCDC88C	umls:C0020255	CLINVAR	NA	0.12	NA	CCDC88C	14	91277921	C	T
rs387907321	NA	440193	CCDC88C	umls:C0020255	CLINVAR	NA	0.12	NA	CCDC88C	14	91272870	CT	-

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	549
Disease	hydrocephalus
Case	(Waiting for update.)

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