Human Phenotype Ontology 
Grandparent Node:
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Morphological central nervous system abnormality (HP:0002011)help
Parent Node:
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Abnormal cerebral ventricle morphology (HP:0002118)help
Parent Node:
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Abnormality of the cerebrospinal fluid (HP:0002921)help
..Starting node
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Hydrocephalus (HP:0000238)help
Term ID: 238
Name: Hydrocephalus
Synonym: Hydrocephaly; Nonsyndromal hydrocephalus; Too much cerebrospinal fluid in the brain
Definition: Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
Comments:
Reference: HP:0000238
Genes and Diseases:
 
       Child Nodes:
........expandCommunicating hydrocephalus (HP:0001334) help
........expandNormal pressure hydrocephalus (HP:0002343) help
........expandSevere hydrocephalus (HP:0006882) help
........expandNoncommunicating hydrocephalus (HP:0010953) help

 Sister Nodes: 
..expandAbnormal CSF metabolite level (HP:0025454) help
..expandAbnormal CSF protein level (HP:0025456) help
..expandAbnormal CSF/serum albumin ratio (HP:0030981) help
..expandCerebrospinal fluid rhinorrhoea (HP:0030998) help
..expandCSF pleocytosis (HP:0012229) help
..expandExtra-axial cerebrospinal fluid accumulation (HP:0012510) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000238HP:0000238Hydrocephalus0AKT3 CL E G H1000083473ORPHA1321393611223
HP:0000238HP:0000238Hydrocephalus0AKT3 CL E G H10000615937Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2615937C4014738OMIM1321393611223
HP:0000238HP:0000238Hydrocephalus0AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM145026837300647
HP:0000238HP:0000238Hydrocephalus0AP1S2 CL E G H890585335ORPHA1241560300629
HP:0000238HP:0000238Hydrocephalus0ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA139429216610911
HP:0000238HP:0000238Hydrocephalus0ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1820714611542
HP:0000238HP:0000238Hydrocephalus0B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0000238HP:0000238Hydrocephalus0B3GALNT2 CL E G H148789899ORPHA158728596610194
HP:0000238HP:0000238Hydrocephalus0B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM158728596610194
HP:0000238HP:0000238Hydrocephalus0B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1219923606374
HP:0000238HP:0000238Hydrocephalus0B3GLCT CL E G H145173709ORPHA131020207610308
HP:0000238HP:0000238Hydrocephalus0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM131020207610308
HP:0000238HP:0000238Hydrocephalus0B4GALT1 CL E G H268379332ORPHA1184924137060
HP:0000238HP:0000238Hydrocephalus0B4GAT1 CL E G H11041899ORPHA120515685605517
HP:0000238HP:0000238Hydrocephalus0B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM120515685605517
HP:0000238HP:0000238Hydrocephalus0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0000238HP:0000238Hydrocephalus0BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM115291149602860
HP:0000238HP:0000238Hydrocephalus0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA129428909300859
HP:0000238HP:0000238Hydrocephalus0CCDC88C CL E G H440193236600Congenital hydrocephalus 1236600C3887608OMIM158619967611204
HP:0000238HP:0000238Hydrocephalus0CCND2 CL E G H89483473ORPHA11561583123833
HP:0000238HP:0000238Hydrocephalus0CCND2 CL E G H894615938Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3615938C4014742OMIM11561583123833
HP:0000238HP:0000238Hydrocephalus0CENPF CL E G H1063243605Stromme syndrome243605C1855705OMIM15541857600236
HP:0000238HP:0000238Hydrocephalus0CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM14451971603799
HP:0000238HP:0000238Hydrocephalus0CLCN7 CL E G H1186667ORPHA110092025602727
HP:0000238HP:0000238Hydrocephalus0COL18A1 CL E G H807811571ORPHA127172195120328
HP:0000238HP:0000238Hydrocephalus0COL4A1 CL E G H1282899ORPHA117852202120130
HP:0000238HP:0000238Hydrocephalus0COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM117852202120130
HP:0000238HP:0000238Hydrocephalus0COX7B CL E G H1349309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM11812291300885
HP:0000238HP:0000238Hydrocephalus0CRB2 CL E G H286204219730Ventriculomegaly with cystic kidney disease219730C1857423OMIM158518688609720
HP:0000238HP:0000238Hydrocephalus0CYP26C1 CL E G H340665398189ORPHA16820577608428
HP:0000238HP:0000238Hydrocephalus0DAG1 CL E G H1605899ORPHA16302666128239
HP:0000238HP:0000238Hydrocephalus0DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM16302666128239
HP:0000238HP:0000238Hydrocephalus0DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM12912859606418
HP:0000238HP:0000238Hydrocephalus0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0000238HP:0000238Hydrocephalus0DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA12122910605185
HP:0000238HP:0000238Hydrocephalus0DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA1108019189614194
HP:0000238HP:0000238Hydrocephalus0DOK7 CL E G H285489208150Pena-Shokeir syndrome type I208150C1276035OMIM1100026594610285
HP:0000238HP:0000238Hydrocephalus0EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0000238HP:0000238Hydrocephalus0EML1 CL E G H2009600348Band heterotopia600348C1838239OMIM11703330602033
HP:0000238HP:0000238Hydrocephalus0EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA121828526614789
HP:0000238HP:0000238Hydrocephalus0ERCC2 CL E G H2068220295ORPHA115723434126340
HP:0000238HP:0000238Hydrocephalus0ERCC3 CL E G H2071220295ORPHA15233435133510
HP:0000238HP:0000238Hydrocephalus0ERCC4 CL E G H2072220295ORPHA17263436133520
HP:0000238HP:0000238Hydrocephalus0ERCC5 CL E G H2073220295ORPHA14913437133530
HP:0000238HP:0000238Hydrocephalus0ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM156427230609353
HP:0000238HP:0000238Hydrocephalus0FAM111A CL E G H63901602361Gracile bone dysplasia602361C1865639OMIM118924725615292
HP:0000238HP:0000238Hydrocephalus0FANCB CL E G H21873412ORPHA16333583300515
HP:0000238HP:0000238Hydrocephalus0FANCB CL E G H2187314390VACTERL association with hydrocephaly, X-linked314390C1839115OMIM16333583300515
HP:0000238HP:0000238Hydrocephalus0FBN1 CL E G H2200616914Marfan lipodystrophy syndrome616914C4310796OMIM166193603134797
HP:0000238HP:0000238Hydrocephalus0FGFR1 CL E G H2260613001Encephalocraniocutaneous lipomatosis613001C0406612OMIM19363688136350
HP:0000238HP:0000238Hydrocephalus0FGFR1 CL E G H2260101600Pfeiffer syndrome101600C1863356OMIM19363688136350
HP:0000238HP:0000238Hydrocephalus0FGFR2 CL E G H226393259ORPHA16853689176943
HP:0000238HP:0000238Hydrocephalus0FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM16853689176943
HP:0000238HP:0000238Hydrocephalus0FGFR2 CL E G H2263207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis207410C2936791OMIM16853689176943
HP:0000238HP:0000238Hydrocephalus0FGFR2 CL E G H2263123790Cutis Gyrata syndrome of Beare and Stevenson123790C1852406OMIM16853689176943
HP:0000238HP:0000238Hydrocephalus0FGFR2 CL E G H2263101600Pfeiffer syndrome101600C1863356OMIM16853689176943
HP:0000238HP:0000238Hydrocephalus0FGFR3 CL E G H226193262ORPHA19163690134934
HP:0000238HP:0000238Hydrocephalus0FGFR3 CL E G H2261616482Severe achondroplasia with developmental delay and acanthosis nigricans616482C2674173OMIM19163690134934
HP:0000238HP:0000238Hydrocephalus0FGFR3 CL E G H2261187600Thanatophoric dysplasia type 1187600C1868678OMIM19163690134934
HP:0000238HP:0000238Hydrocephalus0FKRP CL E G H79147899ORPHA195017997606596
HP:0000238HP:0000238Hydrocephalus0FKRP CL E G H79147588ORPHA195017997606596
HP:0000238HP:0000238Hydrocephalus0FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM195017997606596
HP:0000238HP:0000238Hydrocephalus0FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM195017997606596
HP:0000238HP:0000238Hydrocephalus0FKTN CL E G H2218899ORPHA19143622607440
HP:0000238HP:0000238Hydrocephalus0FKTN CL E G H2218588ORPHA19143622607440
HP:0000238HP:0000238Hydrocephalus0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM19143622607440
HP:0000238HP:0000238Hydrocephalus0FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19143622607440
HP:0000238HP:0000238Hydrocephalus0FKTN CL E G H2218272VACTERL hydrocephalyORPHA19143622607440
HP:0000238HP:0000238Hydrocephalus0FLNA CL E G H231690652ORPHA130333754300017
HP:0000238HP:0000238Hydrocephalus0FLNA CL E G H2316304120Oto-palato-digital syndrome, type II304120C1844696OMIM130333754300017
HP:0000238HP:0000238Hydrocephalus0FLVCR2 CL E G H55640225790Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome225790C1856972OMIM119620105610865
HP:0000238HP:0000238Hydrocephalus0FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM1128719185607830
HP:0000238HP:0000238Hydrocephalus0FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0000238HP:0000238Hydrocephalus0GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0000238HP:0000238Hydrocephalus0GBA CL E G H26292072ORPHA14177606463
HP:0000238HP:0000238Hydrocephalus0GBA CL E G H2629231005Gaucher disease type 3C231005C1856476OMIM14177606463
HP:0000238HP:0000238Hydrocephalus0GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM14554235137780
HP:0000238HP:0000238Hydrocephalus0GLI2 CL E G H2736610829Holoprosencephaly 9610829C1835819OMIM18324318165230
HP:0000238HP:0000238Hydrocephalus0GMPPB CL E G H29925588ORPHA136422932615320
HP:0000238HP:0000238Hydrocephalus0GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM19894451300037
HP:0000238HP:0000238Hydrocephalus0GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12434452300168
HP:0000238HP:0000238Hydrocephalus0GPSM2 CL E G H29899604213Chudley-McCullough syndrome604213C1858695OMIM127929501609245
HP:0000238HP:0000238Hydrocephalus0GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM14144696611499
HP:0000238HP:0000238Hydrocephalus0HBA1 CL E G H3039163596ORPHA13944823141800
HP:0000238HP:0000238Hydrocephalus0HBA2 CL E G H3040163596ORPHA13504824141850
HP:0000238HP:0000238Hydrocephalus0HCCS CL E G H3052309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM12344837300056
HP:0000238HP:0000238Hydrocephalus0HDAC6 CL E G H10013163966ORPHA123814064300272
HP:0000238HP:0000238Hydrocephalus0HDAC6 CL E G H10013300863Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia300863C3275476OMIM123814064300272
HP:0000238HP:0000238Hydrocephalus0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM16225173190020
HP:0000238HP:0000238Hydrocephalus0HYLS1 CL E G H2198442189ORPHA131426558610693
HP:0000238HP:0000238Hydrocephalus0ICK CL E G H22858612651Endocrine-cerebroosteodysplasia612651C2675227OMIM121219612325
HP:0000238HP:0000238Hydrocephalus0IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM19315389300823
HP:0000238HP:0000238Hydrocephalus0IDUA CL E G H342593473ORPHA117885391252800
HP:0000238HP:0000238Hydrocephalus0IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM117885391252800
HP:0000238HP:0000238Hydrocephalus0IFT43 CL E G H112752617866SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY617866CN795020OMIM125729669614068
HP:0000238HP:0000238Hydrocephalus0ISPD CL E G H729920899ORPHA173337276614631
HP:0000238HP:0000238Hydrocephalus0ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM173337276614631
HP:0000238HP:0000238Hydrocephalus0KDM6A CL E G H74032322ORPHA191612637300128
HP:0000238HP:0000238Hydrocephalus0KIAA0586 CL E G H9786616546Short-rib thoracic dysplasia 14 with polydactyly616546C4225286OMIM1125319960610178
HP:0000238HP:0000238Hydrocephalus0KIAA1109 CL E G H84162617822ALKURAYA-KUCINSKAS SYNDROME617822CN737163OMIM126953611565
HP:0000238HP:0000238Hydrocephalus0KIF1A CL E G H5472836ORPHA12622888601255
HP:0000238HP:0000238Hydrocephalus0KIF7 CL E G H3746542189ORPHA1140130497611254
HP:0000238HP:0000238Hydrocephalus0KIF7 CL E G H374654614120Hydrolethalus syndrome 2614120C3279899OMIM1140130497611254
HP:0000238HP:0000238Hydrocephalus0KMT2D CL E G H80852322ORPHA143237133602113
HP:0000238HP:0000238Hydrocephalus0L1CAM CL E G H38972182ORPHA19686470308840
HP:0000238HP:0000238Hydrocephalus0L1CAM CL E G H3897304100Corpus callosum, partial agenesis of, X-linked304100C1839909OMIM19686470308840
HP:0000238HP:0000238Hydrocephalus0L1CAM CL E G H3897303350Spastic paraplegia 1303350C0795953OMIM19686470308840
HP:0000238HP:0000238Hydrocephalus0L1CAM CL E G H3897307000X-linked hydrocephalus syndrome307000C0265216OMIM19686470308840
HP:0000238HP:0000238Hydrocephalus0LAMB1 CL E G H3912615191Lissencephaly 5615191C3554657OMIM17676486150240
HP:0000238HP:0000238Hydrocephalus0LARGE1 CL E G H9215588ORPHA17866511603590
HP:0000238HP:0000238Hydrocephalus0LARGE1 CL E G H9215899ORPHA17866511603590
HP:0000238HP:0000238Hydrocephalus0LARGE1 CL E G H9215613154Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6613154C3150414OMIM17866511603590
HP:0000238HP:0000238Hydrocephalus0LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17866511603590
HP:0000238HP:0000238Hydrocephalus0MBTPS2 CL E G H5136085284ORPHA130915455300294
HP:0000238HP:0000238Hydrocephalus0MED12 CL E G H9968305450FG syndrome305450C0220769OMIM1157311957300188
HP:0000238HP:0000238Hydrocephalus0MKS1 CL E G H54903249000Meckel syndrome type 1249000C3714506OMIM18397121609883
HP:0000238HP:0000238Hydrocephalus0MMACHC CL E G H2597479282ORPHA152424525609831
HP:0000238HP:0000238Hydrocephalus0MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM152424525609831
HP:0000238HP:0000238Hydrocephalus0MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM18077448300415
HP:0000238HP:0000238Hydrocephalus0MUSK CL E G H4593208150Pena-Shokeir syndrome type I208150C1276035OMIM16207525601296
HP:0000238HP:0000238Hydrocephalus0NDUFB11 CL E G H54539309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM120920372300403
HP:0000238HP:0000238Hydrocephalus0NF1 CL E G H4763162200Neurofibromatosis, type 1162200C0027831OMIM1123927765613113
HP:0000238HP:0000238Hydrocephalus0NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA131877881190198
HP:0000238HP:0000238Hydrocephalus0NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM111227882600275
HP:0000238HP:0000238Hydrocephalus0OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM110202567300170
HP:0000238HP:0000238Hydrocephalus0OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0000238HP:0000238Hydrocephalus0OSTM1 CL E G H28962259720Osteopetrosis, autosomal recessive 5259720C1968603OMIM127121652607649
HP:0000238HP:0000238Hydrocephalus0P4HB CL E G H5034112240Cole-Carpenter syndrome 1112240C4317154OMIM12428548176790
HP:0000238HP:0000238Hydrocephalus0PEX19 CL E G H5824614886Peroxisome biogenesis disorder 12A614886C3554002OMIM13799713600279
HP:0000238HP:0000238Hydrocephalus0PIK3CA CL E G H529060040ORPHA111598975171834
HP:0000238HP:0000238Hydrocephalus0PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM111598975171834
HP:0000238HP:0000238Hydrocephalus0PIK3R2 CL E G H529683473ORPHA13558980603157
HP:0000238HP:0000238Hydrocephalus0PIK3R2 CL E G H5296603387Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1603387C1863924OMIM13558980603157
HP:0000238HP:0000238Hydrocephalus0PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM12979071173350
HP:0000238HP:0000238Hydrocephalus0POMGNT1 CL E G H55624899ORPHA1117419139606822
HP:0000238HP:0000238Hydrocephalus0POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0000238HP:0000238Hydrocephalus0POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0000238HP:0000238Hydrocephalus0POMGNT2 CL E G H84892899ORPHA141625902614828
HP:0000238HP:0000238Hydrocephalus0POMGNT2 CL E G H84892614830Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8614830C3553813OMIM141625902614828
HP:0000238HP:0000238Hydrocephalus0POMK CL E G H84197899ORPHA130726267615247
HP:0000238HP:0000238Hydrocephalus0POMT1 CL E G H10585588ORPHA19069202607423
HP:0000238HP:0000238Hydrocephalus0POMT1 CL E G H10585899ORPHA19069202607423
HP:0000238HP:0000238Hydrocephalus0POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19069202607423
HP:0000238HP:0000238Hydrocephalus0POMT2 CL E G H29954588ORPHA193619743607439
HP:0000238HP:0000238Hydrocephalus0POMT2 CL E G H29954899ORPHA193619743607439
HP:0000238HP:0000238Hydrocephalus0POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM193619743607439
HP:0000238HP:0000238Hydrocephalus0POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM193619743607439
HP:0000238HP:0000238Hydrocephalus0POR CL E G H5447207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis207410C2936791OMIM15129208124015
HP:0000238HP:0000238Hydrocephalus0PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM128817652300651
HP:0000238HP:0000238Hydrocephalus0PPP1CB CL E G H55002701Noonan syndrome-like disorder with loose anagen hairC3501846ORPHA12159282600590
HP:0000238HP:0000238Hydrocephalus0PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM13589302605983
HP:0000238HP:0000238Hydrocephalus0PPP2R5D CL E G H5528616355Mental retardation, autosomal dominant 35616355C4225354OMIM13979312601646
HP:0000238HP:0000238Hydrocephalus0PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1649352176763
HP:0000238HP:0000238Hydrocephalus0PRKAR1A CL E G H5573101800Acrodysostosis 1 with or without hormone resistance101800C3276228OMIM111319388188830
HP:0000238HP:0000238Hydrocephalus0PTCH1 CL E G H572777301ORPHA144879585601309
HP:0000238HP:0000238Hydrocephalus0PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM144879585601309
HP:0000238HP:0000238Hydrocephalus0PTCH1 CL E G H5727610828Holoprosencephaly 7610828C1835820OMIM144879585601309
HP:0000238HP:0000238Hydrocephalus0PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM17919586603673
HP:0000238HP:0000238Hydrocephalus0PTEN CL E G H572865285ORPHA130129588601728
HP:0000238HP:0000238Hydrocephalus0PYCR1 CL E G H5831612940Autosomal recessive cutis laxa type 2B612940C2751987OMIM12879721179035
HP:0000238HP:0000238Hydrocephalus0RAD51 CL E G H5888617244Fanconi anemia, complementation group R617244C4284093OMIM13589817179617
HP:0000238HP:0000238Hydrocephalus0RAP1A CL E G H59062322ORPHA1419855179520
HP:0000238HP:0000238Hydrocephalus0RAP1B CL E G H59082322ORPHA1359857179530
HP:0000238HP:0000238Hydrocephalus0RAPSN CL E G H5913208150Pena-Shokeir syndrome type I208150C1276035OMIM15629863601592
HP:0000238HP:0000238Hydrocephalus0RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA11865724147183
HP:0000238HP:0000238Hydrocephalus0RECQL4 CL E G H9401218600Baller-Gerold syndrome218600C0265308OMIM142599949603780
HP:0000238HP:0000238Hydrocephalus0RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0000238HP:0000238Hydrocephalus0RNF125 CL E G H54941616260Tenorio syndrome616260C4015710OMIM110721150610432
HP:0000238HP:0000238Hydrocephalus0RSPO2 CL E G H3404193301Lowry syndromeORPHA19028583610575
HP:0000238HP:0000238Hydrocephalus0RXYLT1 CL E G H10329899ORPHA127313530605862
HP:0000238HP:0000238Hydrocephalus0SEC24D CL E G H9871616294Cole-Carpenter syndrome 2616294C4225382OMIM141610706607186
HP:0000238HP:0000238Hydrocephalus0SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM110510771605593
HP:0000238HP:0000238Hydrocephalus0SHOC2 CL E G H80362701Noonan syndrome-like disorder with loose anagen hairC3501846ORPHA145215454602775
HP:0000238HP:0000238Hydrocephalus0SIK3 CL E G H23387618162SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE618162OMIM18629165614776
HP:0000238HP:0000238Hydrocephalus0SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM152010933604322
HP:0000238HP:0000238Hydrocephalus0SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM112320662608744
HP:0000238HP:0000238Hydrocephalus0SMARCB1 CL E G H659899966ORPHA1104311103601607
HP:0000238HP:0000238Hydrocephalus0SNX10 CL E G H29887667ORPHA114714974614780
HP:0000238HP:0000238Hydrocephalus0SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM136311204608160
HP:0000238HP:0000238Hydrocephalus0SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM1130616466607035
HP:0000238HP:0000238Hydrocephalus0SUMF1 CL E G H285362585ORPHA174620376607939
HP:0000238HP:0000238Hydrocephalus0SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM174620376607939
HP:0000238HP:0000238Hydrocephalus0TBX15 CL E G H6913260660Cousin syndrome260660C1850040OMIM118611594604127
HP:0000238HP:0000238Hydrocephalus0TCIRG1 CL E G H10312667ORPHA1115711647604592
HP:0000238HP:0000238Hydrocephalus0TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM1115711647604592
HP:0000238HP:0000238Hydrocephalus0TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM123625018613277
HP:0000238HP:0000238Hydrocephalus0TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM146614432614423
HP:0000238HP:0000238Hydrocephalus0TNFRSF11A CL E G H8792612301Osteopetrosis autosomal recessive 7612301C2676766OMIM157211908603499
HP:0000238HP:0000238Hydrocephalus0TNFSF11 CL E G H8600667ORPHA124611926602642
HP:0000238HP:0000238Hydrocephalus0TP53 CL E G H71572807ORPHA1297711998191170
HP:0000238HP:0000238Hydrocephalus0VANGL2 CL E G H57216182940Neural tube defect182940C0027794OMIM13815511600533
HP:0000238HP:0000238Hydrocephalus0VHL CL E G H7428892Billet Bear syndromeORPHA1180512687608537
HP:0000238HP:0000238Hydrocephalus0VSX1 CL E G H30813614195Craniofacial anomalies and anterior segment dysgenesis syndrome614195C3280099OMIM113012723605020
HP:0000238HP:0000238Hydrocephalus0WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM163828984610657
HP:0000238HP:0000238Hydrocephalus0WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA163828984610657
HP:0000238HP:0000238Hydrocephalus0WDR81 CL E G H124997617967HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES617967CN252328OMIM142026600614218
HP:0000238HP:0000238Hydrocephalus0WNT3 CL E G H74733301Lowry syndromeORPHA110212782165330
HP:0000238HP:0000238Hydrocephalus0WNT3 CL E G H7473273395Tetraamelia, autosomal recessive273395C4012268OMIM110212782165330
HP:0000238HP:0000238Hydrocephalus0ZBTB20 CL E G H261373042ORPHA125213503606025
HP:0000238HP:0000238Hydrocephalus0ZIC2 CL E G H7546609637Holoprosencephaly 5609637C1864827OMIM136012873603073
HP:0000238HP:0000238Hydrocephalus0ZIC3 CL E G H7547314390VACTERL association with hydrocephaly, X-linked314390C1839115OMIM130112874300265
HP:0000238HP:0000238Hydrocephalus0ZNHIT3 CL E G H93262836ORPHA113612309604500
HP:0000238HP:0010953Noncommunicating hydrocephalus1AKT3 CL E G H1000083473ORPHA1321393611223
HP:0000238HP:0001334Communicating hydrocephalus1AKT3 CL E G H1000083473ORPHA1321393611223
HP:0000238HP:0006882Severe hydrocephalus1AKT3 CL E G H1000083473ORPHA1321393611223
HP:0000238HP:0002343Normal pressure hydrocephalus1AKT3 CL E G H1000083473ORPHA1321393611223
HP:0000238HP:0001334Communicating hydrocephalus1AKT3 CL E G H10000615937Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2615937C4014738OMIM1321393611223
HP:0000238HP:0006882Severe hydrocephalus1AKT3 CL E G H10000615937Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2615937C4014738OMIM1321393611223
HP:0000238HP:0002343Normal pressure hydrocephalus1AKT3 CL E G H10000615937Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2615937C4014738OMIM1321393611223
HP:0000238HP:0010953Noncommunicating hydrocephalus1AKT3 CL E G H10000615937Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2615937C4014738OMIM1321393611223
HP:0000238HP:0006882Severe hydrocephalus1AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM145026837300647
HP:0000238HP:0002343Normal pressure hydrocephalus1AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM145026837300647
HP:0000238HP:0010953Noncommunicating hydrocephalus1AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM145026837300647
HP:0000238HP:0001334Communicating hydrocephalus1AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM145026837300647
HP:0000238HP:0010953Noncommunicating hydrocephalus1AP1S2 CL E G H890585335ORPHA1241560300629
HP:0000238HP:0001334Communicating hydrocephalus1AP1S2 CL E G H890585335ORPHA1241560300629
HP:0000238HP:0006882Severe hydrocephalus1AP1S2 CL E G H890585335ORPHA1241560300629
HP:0000238HP:0002343Normal pressure hydrocephalus1AP1S2 CL E G H890585335ORPHA1241560300629
HP:0000238HP:0006882Severe hydrocephalus1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA139429216610911
HP:0000238HP:0002343Normal pressure hydrocephalus1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA139429216610911
HP:0000238HP:0010953Noncommunicating hydrocephalus1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA139429216610911
HP:0000238HP:0001334Communicating hydrocephalus1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA139429216610911
HP:0000238HP:0001334Communicating hydrocephalus1ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1820714611542
HP:0000238HP:0006882Severe hydrocephalus1ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1820714611542
HP:0000238HP:0002343Normal pressure hydrocephalus1ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1820714611542
HP:0000238HP:0010953Noncommunicating hydrocephalus1ARSB CL E G H411253200Mucopolysaccharidosis type VI253200C0026709OMIM1820714611542
HP:0000238HP:0002343Normal pressure hydrocephalus1B3GALNT2 CL E G H148789899ORPHA158728596610194
HP:0000238HP:0001334Communicating hydrocephalus1B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0000238HP:0010953Noncommunicating hydrocephalus1B3GALNT2 CL E G H148789899ORPHA158728596610194
HP:0000238HP:0006882Severe hydrocephalus1B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0000238HP:0001334Communicating hydrocephalus1B3GALNT2 CL E G H148789899ORPHA158728596610194
HP:0000238HP:0002343Normal pressure hydrocephalus1B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0000238HP:0006882Severe hydrocephalus1B3GALNT2 CL E G H148789899ORPHA158728596610194
HP:0000238HP:0010953Noncommunicating hydrocephalus1B3GALNT2 CL E G H148789588ORPHA158728596610194
HP:0000238HP:0002343Normal pressure hydrocephalus1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM158728596610194
HP:0000238HP:0010953Noncommunicating hydrocephalus1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM158728596610194
HP:0000238HP:0001334Communicating hydrocephalus1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM158728596610194
HP:0000238HP:0006882Severe hydrocephalus1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM158728596610194
HP:0000238HP:0001334Communicating hydrocephalus1B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1219923606374
HP:0000238HP:0006882Severe hydrocephalus1B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1219923606374
HP:0000238HP:0002343Normal pressure hydrocephalus1B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1219923606374
HP:0000238HP:0010953Noncommunicating hydrocephalus1B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1219923606374
HP:0000238HP:0002343Normal pressure hydrocephalus1B3GLCT CL E G H145173709ORPHA131020207610308
HP:0000238HP:0010953Noncommunicating hydrocephalus1B3GLCT CL E G H145173709ORPHA131020207610308
HP:0000238HP:0001334Communicating hydrocephalus1B3GLCT CL E G H145173709ORPHA131020207610308
HP:0000238HP:0006882Severe hydrocephalus1B3GLCT CL E G H145173709ORPHA131020207610308
HP:0000238HP:0006882Severe hydrocephalus1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM131020207610308
HP:0000238HP:0002343Normal pressure hydrocephalus1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM131020207610308
HP:0000238HP:0010953Noncommunicating hydrocephalus1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM131020207610308
HP:0000238HP:0001334Communicating hydrocephalus1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM131020207610308
HP:0000238HP:0002343Normal pressure hydrocephalus1B4GALT1 CL E G H268379332ORPHA1184924137060
HP:0000238HP:0010953Noncommunicating hydrocephalus1B4GALT1 CL E G H268379332ORPHA1184924137060
HP:0000238HP:0001334Communicating hydrocephalus1B4GALT1 CL E G H268379332ORPHA1184924137060
HP:0000238HP:0006882Severe hydrocephalus1B4GALT1 CL E G H268379332ORPHA1184924137060
HP:0000238HP:0010953Noncommunicating hydrocephalus1B4GAT1 CL E G H11041899ORPHA120515685605517
HP:0000238HP:0001334Communicating hydrocephalus1B4GAT1 CL E G H11041899ORPHA120515685605517
HP:0000238HP:0006882Severe hydrocephalus1B4GAT1 CL E G H11041899ORPHA120515685605517
HP:0000238HP:0002343Normal pressure hydrocephalus1B4GAT1 CL E G H11041899ORPHA120515685605517
HP:0000238HP:0006882Severe hydrocephalus1B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM120515685605517
HP:0000238HP:0002343Normal pressure hydrocephalus1B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM120515685605517
HP:0000238HP:0010953Noncommunicating hydrocephalus1B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM120515685605517
HP:0000238HP:0001334Communicating hydrocephalus1B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM120515685605517
HP:0000238HP:0002343Normal pressure hydrocephalus1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0000238HP:0010953Noncommunicating hydrocephalus1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0000238HP:0001334Communicating hydrocephalus1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0000238HP:0006882Severe hydrocephalus1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0000238HP:0001334Communicating hydrocephalus1BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM115291149602860
HP:0000238HP:0006882Severe hydrocephalus1BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM115291149602860
HP:0000238HP:0002343Normal pressure hydrocephalus1BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM115291149602860
HP:0000238HP:0010953Noncommunicating hydrocephalus1BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM115291149602860
HP:0000238HP:0002343Normal pressure hydrocephalus1CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA129428909300859
HP:0000238HP:0010953Noncommunicating hydrocephalus1CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA129428909300859
HP:0000238HP:0001334Communicating hydrocephalus1CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA129428909300859
HP:0000238HP:0006882Severe hydrocephalus1CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA129428909300859
HP:0000238HP:0010953Noncommunicating hydrocephalus1CCDC88C CL E G H440193236600Congenital hydrocephalus 1236600C3887608OMIM158619967611204
HP:0000238HP:0001334Communicating hydrocephalus1CCDC88C CL E G H440193236600Congenital hydrocephalus 1236600C3887608OMIM158619967611204
HP:0000238HP:0006882Severe hydrocephalus1CCDC88C CL E G H440193236600Congenital hydrocephalus 1236600C3887608OMIM158619967611204
HP:0000238HP:0002343Normal pressure hydrocephalus1CCDC88C CL E G H440193236600Congenital hydrocephalus 1236600C3887608OMIM158619967611204
HP:0000238HP:0001334Communicating hydrocephalus1CCND2 CL E G H89483473ORPHA11561583123833
HP:0000238HP:0006882Severe hydrocephalus1CCND2 CL E G H89483473ORPHA11561583123833
HP:0000238HP:0002343Normal pressure hydrocephalus1CCND2 CL E G H89483473ORPHA11561583123833
HP:0000238HP:0010953Noncommunicating hydrocephalus1CCND2 CL E G H89483473ORPHA11561583123833
HP:0000238HP:0006882Severe hydrocephalus1CCND2 CL E G H894615938Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3615938C4014742OMIM11561583123833
HP:0000238HP:0002343Normal pressure hydrocephalus1CCND2 CL E G H894615938Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3615938C4014742OMIM11561583123833
HP:0000238HP:0010953Noncommunicating hydrocephalus1CCND2 CL E G H894615938Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3615938C4014742OMIM11561583123833
HP:0000238HP:0001334Communicating hydrocephalus1CCND2 CL E G H894615938Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3615938C4014742OMIM11561583123833
HP:0000238HP:0002343Normal pressure hydrocephalus1CENPF CL E G H1063243605Stromme syndrome243605C1855705OMIM15541857600236
HP:0000238HP:0010953Noncommunicating hydrocephalus1CENPF CL E G H1063243605Stromme syndrome243605C1855705OMIM15541857600236
HP:0000238HP:0001334Communicating hydrocephalus1CENPF CL E G H1063243605Stromme syndrome243605C1855705OMIM15541857600236
HP:0000238HP:0006882Severe hydrocephalus1CENPF CL E G H1063243605Stromme syndrome243605C1855705OMIM15541857600236
HP:0000238HP:0006882Severe hydrocephalus1CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM14451971603799
HP:0000238HP:0002343Normal pressure hydrocephalus1CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM14451971603799
HP:0000238HP:0010953Noncommunicating hydrocephalus1CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM14451971603799
HP:0000238HP:0001334Communicating hydrocephalus1CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM14451971603799
HP:0000238HP:0002343Normal pressure hydrocephalus1CLCN7 CL E G H1186667ORPHA110092025602727
HP:0000238HP:0010953Noncommunicating hydrocephalus1CLCN7 CL E G H1186667ORPHA110092025602727
HP:0000238HP:0001334Communicating hydrocephalus1CLCN7 CL E G H1186667ORPHA110092025602727
HP:0000238HP:0006882Severe hydrocephalus1CLCN7 CL E G H1186667ORPHA110092025602727
HP:0000238HP:0001334Communicating hydrocephalus1COL18A1 CL E G H807811571ORPHA127172195120328
HP:0000238HP:0006882Severe hydrocephalus1COL18A1 CL E G H807811571ORPHA127172195120328
HP:0000238HP:0002343Normal pressure hydrocephalus1COL18A1 CL E G H807811571ORPHA127172195120328
HP:0000238HP:0010953Noncommunicating hydrocephalus1COL18A1 CL E G H807811571ORPHA127172195120328
HP:0000238HP:0001334Communicating hydrocephalus1COL4A1 CL E G H1282899ORPHA117852202120130
HP:0000238HP:0006882Severe hydrocephalus1COL4A1 CL E G H1282899ORPHA117852202120130
HP:0000238HP:0002343Normal pressure hydrocephalus1COL4A1 CL E G H1282899ORPHA117852202120130
HP:0000238HP:0010953Noncommunicating hydrocephalus1COL4A1 CL E G H1282899ORPHA117852202120130
HP:0000238HP:0010953Noncommunicating hydrocephalus1COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM117852202120130
HP:0000238HP:0001334Communicating hydrocephalus1COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM117852202120130
HP:0000238HP:0006882Severe hydrocephalus1COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM117852202120130
HP:0000238HP:0002343Normal pressure hydrocephalus1COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM117852202120130
HP:0000238HP:0006882Severe hydrocephalus1COX7B CL E G H1349309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM11812291300885
HP:0000238HP:0002343Normal pressure hydrocephalus1COX7B CL E G H1349309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM11812291300885
HP:0000238HP:0010953Noncommunicating hydrocephalus1COX7B CL E G H1349309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM11812291300885
HP:0000238HP:0001334Communicating hydrocephalus1COX7B CL E G H1349309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM11812291300885
HP:0000238HP:0010953Noncommunicating hydrocephalus1CRB2 CL E G H286204219730Ventriculomegaly with cystic kidney disease219730C1857423OMIM158518688609720
HP:0000238HP:0001334Communicating hydrocephalus1CRB2 CL E G H286204219730Ventriculomegaly with cystic kidney disease219730C1857423OMIM158518688609720
HP:0000238HP:0006882Severe hydrocephalus1CRB2 CL E G H286204219730Ventriculomegaly with cystic kidney disease219730C1857423OMIM158518688609720
HP:0000238HP:0002343Normal pressure hydrocephalus1CRB2 CL E G H286204219730Ventriculomegaly with cystic kidney disease219730C1857423OMIM158518688609720
HP:0000238HP:0006882Severe hydrocephalus1CYP26C1 CL E G H340665398189ORPHA16820577608428
HP:0000238HP:0002343Normal pressure hydrocephalus1CYP26C1 CL E G H340665398189ORPHA16820577608428
HP:0000238HP:0010953Noncommunicating hydrocephalus1CYP26C1 CL E G H340665398189ORPHA16820577608428
HP:0000238HP:0001334Communicating hydrocephalus1CYP26C1 CL E G H340665398189ORPHA16820577608428
HP:0000238HP:0002343Normal pressure hydrocephalus1DAG1 CL E G H1605899ORPHA16302666128239
HP:0000238HP:0010953Noncommunicating hydrocephalus1DAG1 CL E G H1605899ORPHA16302666128239
HP:0000238HP:0001334Communicating hydrocephalus1DAG1 CL E G H1605899ORPHA16302666128239
HP:0000238HP:0006882Severe hydrocephalus1DAG1 CL E G H1605899ORPHA16302666128239
HP:0000238HP:0010953Noncommunicating hydrocephalus1DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM16302666128239
HP:0000238HP:0001334Communicating hydrocephalus1DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM16302666128239
HP:0000238HP:0006882Severe hydrocephalus1DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM16302666128239
HP:0000238HP:0002343Normal pressure hydrocephalus1DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM16302666128239
HP:0000238HP:0002343Normal pressure hydrocephalus1DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM12912859606418
HP:0000238HP:0010953Noncommunicating hydrocephalus1DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM12912859606418
HP:0000238HP:0001334Communicating hydrocephalus1DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM12912859606418
HP:0000238HP:0006882Severe hydrocephalus1DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM12912859606418
HP:0000238HP:0001334Communicating hydrocephalus1DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0000238HP:0006882Severe hydrocephalus1DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0000238HP:0002343Normal pressure hydrocephalus1DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0000238HP:0010953Noncommunicating hydrocephalus1DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM17792860602858
HP:0000238HP:0002343Normal pressure hydrocephalus1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA12122910605185
HP:0000238HP:0010953Noncommunicating hydrocephalus1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA12122910605185
HP:0000238HP:0001334Communicating hydrocephalus1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA12122910605185
HP:0000238HP:0006882Severe hydrocephalus1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA12122910605185
HP:0000238HP:0010953Noncommunicating hydrocephalus1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA1108019189614194
HP:0000238HP:0001334Communicating hydrocephalus1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA1108019189614194
HP:0000238HP:0006882Severe hydrocephalus1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA1108019189614194
HP:0000238HP:0002343Normal pressure hydrocephalus1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA1108019189614194
HP:0000238HP:0001334Communicating hydrocephalus1DOK7 CL E G H285489208150Pena-Shokeir syndrome type I208150C1276035OMIM1100026594610285
HP:0000238HP:0006882Severe hydrocephalus1DOK7 CL E G H285489208150Pena-Shokeir syndrome type I208150C1276035OMIM1100026594610285
HP:0000238HP:0002343Normal pressure hydrocephalus1DOK7 CL E G H285489208150Pena-Shokeir syndrome type I208150C1276035OMIM1100026594610285
HP:0000238HP:0010953Noncommunicating hydrocephalus1DOK7 CL E G H285489208150Pena-Shokeir syndrome type I208150C1276035OMIM1100026594610285
HP:0000238HP:0006882Severe hydrocephalus1EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0000238HP:0002343Normal pressure hydrocephalus1EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0000238HP:0010953Noncommunicating hydrocephalus1EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0000238HP:0001334Communicating hydrocephalus1EBP CL E G H10682300960MEND syndrome300960C4085243OMIM13173133300205
HP:0000238HP:0010953Noncommunicating hydrocephalus1EML1 CL E G H2009600348Band heterotopia600348C1838239OMIM11703330602033
HP:0000238HP:0001334Communicating hydrocephalus1EML1 CL E G H2009600348Band heterotopia600348C1838239OMIM11703330602033
HP:0000238HP:0006882Severe hydrocephalus1EML1 CL E G H2009600348Band heterotopia600348C1838239OMIM11703330602033
HP:0000238HP:0002343Normal pressure hydrocephalus1EML1 CL E G H2009600348Band heterotopia600348C1838239OMIM11703330602033
HP:0000238HP:0001334Communicating hydrocephalus1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA121828526614789
HP:0000238HP:0006882Severe hydrocephalus1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA121828526614789
HP:0000238HP:0002343Normal pressure hydrocephalus1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA121828526614789
HP:0000238HP:0010953Noncommunicating hydrocephalus1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA121828526614789
HP:0000238HP:0001334Communicating hydrocephalus1ERCC2 CL E G H2068220295ORPHA115723434126340
HP:0000238HP:0006882Severe hydrocephalus1ERCC2 CL E G H2068220295ORPHA115723434126340
HP:0000238HP:0002343Normal pressure hydrocephalus1ERCC2 CL E G H2068220295ORPHA115723434126340
HP:0000238HP:0010953Noncommunicating hydrocephalus1ERCC2 CL E G H2068220295ORPHA115723434126340
HP:0000238HP:0006882Severe hydrocephalus1ERCC3 CL E G H2071220295ORPHA15233435133510
HP:0000238HP:0002343Normal pressure hydrocephalus1ERCC3 CL E G H2071220295ORPHA15233435133510
HP:0000238HP:0010953Noncommunicating hydrocephalus1ERCC3 CL E G H2071220295ORPHA15233435133510
HP:0000238HP:0001334Communicating hydrocephalus1ERCC3 CL E G H2071220295ORPHA15233435133510
HP:0000238HP:0002343Normal pressure hydrocephalus1ERCC4 CL E G H2072220295ORPHA17263436133520
HP:0000238HP:0010953Noncommunicating hydrocephalus1ERCC4 CL E G H2072220295ORPHA17263436133520
HP:0000238HP:0001334Communicating hydrocephalus1ERCC4 CL E G H2072220295ORPHA17263436133520
HP:0000238HP:0006882Severe hydrocephalus1ERCC4 CL E G H2072220295ORPHA17263436133520
HP:0000238HP:0010953Noncommunicating hydrocephalus1ERCC5 CL E G H2073220295ORPHA14913437133530
HP:0000238HP:0001334Communicating hydrocephalus1ERCC5 CL E G H2073220295ORPHA14913437133530
HP:0000238HP:0006882Severe hydrocephalus1ERCC5 CL E G H2073220295ORPHA14913437133530
HP:0000238HP:0002343Normal pressure hydrocephalus1ERCC5 CL E G H2073220295ORPHA14913437133530
HP:0000238HP:0002343Normal pressure hydrocephalus1ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM156427230609353
HP:0000238HP:0010953Noncommunicating hydrocephalus1ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM156427230609353
HP:0000238HP:0001334Communicating hydrocephalus1ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM156427230609353
HP:0000238HP:0006882Severe hydrocephalus1ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM156427230609353
HP:0000238HP:0001334Communicating hydrocephalus1FAM111A CL E G H63901602361Gracile bone dysplasia602361C1865639OMIM118924725615292
HP:0000238HP:0006882Severe hydrocephalus1FAM111A CL E G H63901602361Gracile bone dysplasia602361C1865639OMIM118924725615292
HP:0000238HP:0002343Normal pressure hydrocephalus1FAM111A CL E G H63901602361Gracile bone dysplasia602361C1865639OMIM118924725615292
HP:0000238HP:0010953Noncommunicating hydrocephalus1FAM111A CL E G H63901602361Gracile bone dysplasia602361C1865639OMIM118924725615292
HP:0000238HP:0002343Normal pressure hydrocephalus1FANCB CL E G H21873412ORPHA16333583300515
HP:0000238HP:0010953Noncommunicating hydrocephalus1FANCB CL E G H21873412ORPHA16333583300515
HP:0000238HP:0001334Communicating hydrocephalus1FANCB CL E G H21873412ORPHA16333583300515
HP:0000238HP:0006882Severe hydrocephalus1FANCB CL E G H21873412ORPHA16333583300515
HP:0000238HP:0006882Severe hydrocephalus1FANCB CL E G H2187314390VACTERL association with hydrocephaly, X-linked314390C1839115OMIM16333583300515
HP:0000238HP:0002343Normal pressure hydrocephalus1FANCB CL E G H2187314390VACTERL association with hydrocephaly, X-linked314390C1839115OMIM16333583300515
HP:0000238HP:0010953Noncommunicating hydrocephalus1FANCB CL E G H2187314390VACTERL association with hydrocephaly, X-linked314390C1839115OMIM16333583300515
HP:0000238HP:0001334Communicating hydrocephalus1FANCB CL E G H2187314390VACTERL association with hydrocephaly, X-linked314390C1839115OMIM16333583300515
HP:0000238HP:0006882Severe hydrocephalus1FBN1 CL E G H2200616914Marfan lipodystrophy syndrome616914C4310796OMIM166193603134797
HP:0000238HP:0002343Normal pressure hydrocephalus1FBN1 CL E G H2200616914Marfan lipodystrophy syndrome616914C4310796OMIM166193603134797
HP:0000238HP:0010953Noncommunicating hydrocephalus1FBN1 CL E G H2200616914Marfan lipodystrophy syndrome616914C4310796OMIM166193603134797
HP:0000238HP:0001334Communicating hydrocephalus1FBN1 CL E G H2200616914Marfan lipodystrophy syndrome616914C4310796OMIM166193603134797
HP:0000238HP:0010953Noncommunicating hydrocephalus1FGFR1 CL E G H2260613001Encephalocraniocutaneous lipomatosis613001C0406612OMIM19363688136350
HP:0000238HP:0001334Communicating hydrocephalus1FGFR1 CL E G H2260613001Encephalocraniocutaneous lipomatosis613001C0406612OMIM19363688136350
HP:0000238HP:0006882Severe hydrocephalus1FGFR1 CL E G H2260613001Encephalocraniocutaneous lipomatosis613001C0406612OMIM19363688136350
HP:0000238HP:0002343Normal pressure hydrocephalus1FGFR1 CL E G H2260613001Encephalocraniocutaneous lipomatosis613001C0406612OMIM19363688136350
HP:0000238HP:0006882Severe hydrocephalus1FGFR1 CL E G H2260101600Pfeiffer syndrome101600C1863356OMIM19363688136350
HP:0000238HP:0002343Normal pressure hydrocephalus1FGFR1 CL E G H2260101600Pfeiffer syndrome101600C1863356OMIM19363688136350
HP:0000238HP:0010953Noncommunicating hydrocephalus1FGFR1 CL E G H2260101600Pfeiffer syndrome101600C1863356OMIM19363688136350
HP:0000238HP:0001334Communicating hydrocephalus1FGFR1 CL E G H2260101600Pfeiffer syndrome101600C1863356OMIM19363688136350
HP:0000238HP:0006882Severe hydrocephalus1FGFR2 CL E G H226393259ORPHA16853689176943
HP:0000238HP:0002343Normal pressure hydrocephalus1FGFR2 CL E G H226393259ORPHA16853689176943
HP:0000238HP:0010953Noncommunicating hydrocephalus1FGFR2 CL E G H226393259ORPHA16853689176943
HP:0000238HP:0001334Communicating hydrocephalus1FGFR2 CL E G H226393259ORPHA16853689176943
HP:0000238HP:0001334Communicating hydrocephalus1FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM16853689176943
HP:0000238HP:0006882Severe hydrocephalus1FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM16853689176943
HP:0000238HP:0002343Normal pressure hydrocephalus1FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM16853689176943
HP:0000238HP:0010953Noncommunicating hydrocephalus1FGFR2 CL E G H2263101200Acrocephalosyndactyly type I101200C0001193OMIM16853689176943
HP:0000238HP:0002343Normal pressure hydrocephalus1FGFR2 CL E G H2263207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis207410C2936791OMIM16853689176943
HP:0000238HP:0010953Noncommunicating hydrocephalus1FGFR2 CL E G H2263207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis207410C2936791OMIM16853689176943
HP:0000238HP:0001334Communicating hydrocephalus1FGFR2 CL E G H2263207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis207410C2936791OMIM16853689176943
HP:0000238HP:0006882Severe hydrocephalus1FGFR2 CL E G H2263207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis207410C2936791OMIM16853689176943
HP:0000238HP:0010953Noncommunicating hydrocephalus1FGFR2 CL E G H2263123790Cutis Gyrata syndrome of Beare and Stevenson123790C1852406OMIM16853689176943
HP:0000238HP:0001334Communicating hydrocephalus1FGFR2 CL E G H2263123790Cutis Gyrata syndrome of Beare and Stevenson123790C1852406OMIM16853689176943
HP:0000238HP:0006882Severe hydrocephalus1FGFR2 CL E G H2263123790Cutis Gyrata syndrome of Beare and Stevenson123790C1852406OMIM16853689176943
HP:0000238HP:0002343Normal pressure hydrocephalus1FGFR2 CL E G H2263123790Cutis Gyrata syndrome of Beare and Stevenson123790C1852406OMIM16853689176943
HP:0000238HP:0002343Normal pressure hydrocephalus1FGFR2 CL E G H2263101600Pfeiffer syndrome101600C1863356OMIM16853689176943
HP:0000238HP:0010953Noncommunicating hydrocephalus1FGFR2 CL E G H2263101600Pfeiffer syndrome101600C1863356OMIM16853689176943
HP:0000238HP:0001334Communicating hydrocephalus1FGFR2 CL E G H2263101600Pfeiffer syndrome101600C1863356OMIM16853689176943
HP:0000238HP:0006882Severe hydrocephalus1FGFR2 CL E G H2263101600Pfeiffer syndrome101600C1863356OMIM16853689176943
HP:0000238HP:0002343Normal pressure hydrocephalus1FGFR3 CL E G H226193262ORPHA19163690134934
HP:0000238HP:0010953Noncommunicating hydrocephalus1FGFR3 CL E G H226193262ORPHA19163690134934
HP:0000238HP:0001334Communicating hydrocephalus1FGFR3 CL E G H226193262ORPHA19163690134934
HP:0000238HP:0006882Severe hydrocephalus1FGFR3 CL E G H226193262ORPHA19163690134934
HP:0000238HP:0002343Normal pressure hydrocephalus1FGFR3 CL E G H2261616482Severe achondroplasia with developmental delay and acanthosis nigricans616482C2674173OMIM19163690134934
HP:0000238HP:0010953Noncommunicating hydrocephalus1FGFR3 CL E G H2261616482Severe achondroplasia with developmental delay and acanthosis nigricans616482C2674173OMIM19163690134934
HP:0000238HP:0001334Communicating hydrocephalus1FGFR3 CL E G H2261616482Severe achondroplasia with developmental delay and acanthosis nigricans616482C2674173OMIM19163690134934
HP:0000238HP:0006882Severe hydrocephalus1FGFR3 CL E G H2261616482Severe achondroplasia with developmental delay and acanthosis nigricans616482C2674173OMIM19163690134934
HP:0000238HP:0002343Normal pressure hydrocephalus1FGFR3 CL E G H2261187600Thanatophoric dysplasia type 1187600C1868678OMIM19163690134934
HP:0000238HP:0010953Noncommunicating hydrocephalus1FGFR3 CL E G H2261187600Thanatophoric dysplasia type 1187600C1868678OMIM19163690134934
HP:0000238HP:0001334Communicating hydrocephalus1FGFR3 CL E G H2261187600Thanatophoric dysplasia type 1187600C1868678OMIM19163690134934
HP:0000238HP:0006882Severe hydrocephalus1FGFR3 CL E G H2261187600Thanatophoric dysplasia type 1187600C1868678OMIM19163690134934
HP:0000238HP:0010953Noncommunicating hydrocephalus1FKRP CL E G H79147899ORPHA195017997606596
HP:0000238HP:0006882Severe hydrocephalus1FKRP CL E G H79147588ORPHA195017997606596
HP:0000238HP:0001334Communicating hydrocephalus1FKRP CL E G H79147899ORPHA195017997606596
HP:0000238HP:0002343Normal pressure hydrocephalus1FKRP CL E G H79147588ORPHA195017997606596
HP:0000238HP:0010953Noncommunicating hydrocephalus1FKRP CL E G H79147588ORPHA195017997606596
HP:0000238HP:0006882Severe hydrocephalus1FKRP CL E G H79147899ORPHA195017997606596
HP:0000238HP:0001334Communicating hydrocephalus1FKRP CL E G H79147588ORPHA195017997606596
HP:0000238HP:0002343Normal pressure hydrocephalus1FKRP CL E G H79147899ORPHA195017997606596
HP:0000238HP:0006882Severe hydrocephalus1FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM195017997606596
HP:0000238HP:0002343Normal pressure hydrocephalus1FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM195017997606596
HP:0000238HP:0010953Noncommunicating hydrocephalus1FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM195017997606596
HP:0000238HP:0001334Communicating hydrocephalus1FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM195017997606596
HP:0000238HP:0001334Communicating hydrocephalus1FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM195017997606596
HP:0000238HP:0006882Severe hydrocephalus1FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM195017997606596
HP:0000238HP:0002343Normal pressure hydrocephalus1FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM195017997606596
HP:0000238HP:0010953Noncommunicating hydrocephalus1FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM195017997606596
HP:0000238HP:0001334Communicating hydrocephalus1FKTN CL E G H2218899ORPHA19143622607440
HP:0000238HP:0002343Normal pressure hydrocephalus1FKTN CL E G H2218588ORPHA19143622607440
HP:0000238HP:0010953Noncommunicating hydrocephalus1FKTN CL E G H2218588ORPHA19143622607440
HP:0000238HP:0006882Severe hydrocephalus1FKTN CL E G H2218899ORPHA19143622607440
HP:0000238HP:0001334Communicating hydrocephalus1FKTN CL E G H2218588ORPHA19143622607440
HP:0000238HP:0002343Normal pressure hydrocephalus1FKTN CL E G H2218899ORPHA19143622607440
HP:0000238HP:0010953Noncommunicating hydrocephalus1FKTN CL E G H2218899ORPHA19143622607440
HP:0000238HP:0006882Severe hydrocephalus1FKTN CL E G H2218588ORPHA19143622607440
HP:0000238HP:0010953Noncommunicating hydrocephalus1FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM19143622607440
HP:0000238HP:0001334Communicating hydrocephalus1FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM19143622607440
HP:0000238HP:0006882Severe hydrocephalus1FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM19143622607440
HP:0000238HP:0002343Normal pressure hydrocephalus1FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM19143622607440
HP:0000238HP:0006882Severe hydrocephalus1FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19143622607440
HP:0000238HP:0002343Normal pressure hydrocephalus1FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19143622607440
HP:0000238HP:0010953Noncommunicating hydrocephalus1FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19143622607440
HP:0000238HP:0001334Communicating hydrocephalus1FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19143622607440
HP:0000238HP:0002343Normal pressure hydrocephalus1FKTN CL E G H2218272VACTERL hydrocephalyORPHA19143622607440
HP:0000238HP:0010953Noncommunicating hydrocephalus1FKTN CL E G H2218272VACTERL hydrocephalyORPHA19143622607440
HP:0000238HP:0001334Communicating hydrocephalus1FKTN CL E G H2218272VACTERL hydrocephalyORPHA19143622607440
HP:0000238HP:0006882Severe hydrocephalus1FKTN CL E G H2218272VACTERL hydrocephalyORPHA19143622607440
HP:0000238HP:0001334Communicating hydrocephalus1FLNA CL E G H231690652ORPHA130333754300017
HP:0000238HP:0006882Severe hydrocephalus1FLNA CL E G H231690652ORPHA130333754300017
HP:0000238HP:0002343Normal pressure hydrocephalus1FLNA CL E G H231690652ORPHA130333754300017
HP:0000238HP:0010953Noncommunicating hydrocephalus1FLNA CL E G H231690652ORPHA130333754300017
HP:0000238HP:0001334Communicating hydrocephalus1FLNA CL E G H2316304120Oto-palato-digital syndrome, type II304120C1844696OMIM130333754300017
HP:0000238HP:0006882Severe hydrocephalus1FLNA CL E G H2316304120Oto-palato-digital syndrome, type II304120C1844696OMIM130333754300017
HP:0000238HP:0002343Normal pressure hydrocephalus1FLNA CL E G H2316304120Oto-palato-digital syndrome, type II304120C1844696OMIM130333754300017
HP:0000238HP:0010953Noncommunicating hydrocephalus1FLNA CL E G H2316304120Oto-palato-digital syndrome, type II304120C1844696OMIM130333754300017
HP:0000238HP:0006882Severe hydrocephalus1FLVCR2 CL E G H55640225790Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome225790C1856972OMIM119620105610865
HP:0000238HP:0002343Normal pressure hydrocephalus1FLVCR2 CL E G H55640225790Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome225790C1856972OMIM119620105610865
HP:0000238HP:0010953Noncommunicating hydrocephalus1FLVCR2 CL E G H55640225790Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome225790C1856972OMIM119620105610865
HP:0000238HP:0001334Communicating hydrocephalus1FLVCR2 CL E G H55640225790Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome225790C1856972OMIM119620105610865
HP:0000238HP:0002343Normal pressure hydrocephalus1FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM1128719185607830
HP:0000238HP:0010953Noncommunicating hydrocephalus1FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM1128719185607830
HP:0000238HP:0001334Communicating hydrocephalus1FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM1128719185607830
HP:0000238HP:0006882Severe hydrocephalus1FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM1128719185607830
HP:0000238HP:0006882Severe hydrocephalus1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0000238HP:0002343Normal pressure hydrocephalus1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0000238HP:0010953Noncommunicating hydrocephalus1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0000238HP:0001334Communicating hydrocephalus1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0000238HP:0010953Noncommunicating hydrocephalus1GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0000238HP:0001334Communicating hydrocephalus1GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0000238HP:0006882Severe hydrocephalus1GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0000238HP:0002343Normal pressure hydrocephalus1GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM111854115606890
HP:0000238HP:0001334Communicating hydrocephalus1GBA CL E G H26292072ORPHA14177606463
HP:0000238HP:0006882Severe hydrocephalus1GBA CL E G H26292072ORPHA14177606463
HP:0000238HP:0002343Normal pressure hydrocephalus1GBA CL E G H26292072ORPHA14177606463
HP:0000238HP:0010953Noncommunicating hydrocephalus1GBA CL E G H26292072ORPHA14177606463
HP:0000238HP:0002343Normal pressure hydrocephalus1GBA CL E G H2629231005Gaucher disease type 3C231005C1856476OMIM14177606463
HP:0000238HP:0010953Noncommunicating hydrocephalus1GBA CL E G H2629231005Gaucher disease type 3C231005C1856476OMIM14177606463
HP:0000238HP:0001334Communicating hydrocephalus1GBA CL E G H2629231005Gaucher disease type 3C231005C1856476OMIM14177606463
HP:0000238HP:0006882Severe hydrocephalus1GBA CL E G H2629231005Gaucher disease type 3C231005C1856476OMIM14177606463
HP:0000238HP:0006882Severe hydrocephalus1GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM14554235137780
HP:0000238HP:0002343Normal pressure hydrocephalus1GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM14554235137780
HP:0000238HP:0010953Noncommunicating hydrocephalus1GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM14554235137780
HP:0000238HP:0001334Communicating hydrocephalus1GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM14554235137780
HP:0000238HP:0002343Normal pressure hydrocephalus1GLI2 CL E G H2736610829Holoprosencephaly 9610829C1835819OMIM18324318165230
HP:0000238HP:0010953Noncommunicating hydrocephalus1GLI2 CL E G H2736610829Holoprosencephaly 9610829C1835819OMIM18324318165230
HP:0000238HP:0001334Communicating hydrocephalus1GLI2 CL E G H2736610829Holoprosencephaly 9610829C1835819OMIM18324318165230
HP:0000238HP:0006882Severe hydrocephalus1GLI2 CL E G H2736610829Holoprosencephaly 9610829C1835819OMIM18324318165230
HP:0000238HP:0010953Noncommunicating hydrocephalus1GMPPB CL E G H29925588ORPHA136422932615320
HP:0000238HP:0001334Communicating hydrocephalus1GMPPB CL E G H29925588ORPHA136422932615320
HP:0000238HP:0006882Severe hydrocephalus1GMPPB CL E G H29925588ORPHA136422932615320
HP:0000238HP:0002343Normal pressure hydrocephalus1GMPPB CL E G H29925588ORPHA136422932615320
HP:0000238HP:0010953Noncommunicating hydrocephalus1GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM19894451300037
HP:0000238HP:0001334Communicating hydrocephalus1GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM19894451300037
HP:0000238HP:0006882Severe hydrocephalus1GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM19894451300037
HP:0000238HP:0002343Normal pressure hydrocephalus1GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM19894451300037
HP:0000238HP:0001334Communicating hydrocephalus1GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12434452300168
HP:0000238HP:0006882Severe hydrocephalus1GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12434452300168
HP:0000238HP:0002343Normal pressure hydrocephalus1GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12434452300168
HP:0000238HP:0010953Noncommunicating hydrocephalus1GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12434452300168
HP:0000238HP:0006882Severe hydrocephalus1GPSM2 CL E G H29899604213Chudley-McCullough syndrome604213C1858695OMIM127929501609245
HP:0000238HP:0002343Normal pressure hydrocephalus1GPSM2 CL E G H29899604213Chudley-McCullough syndrome604213C1858695OMIM127929501609245
HP:0000238HP:0010953Noncommunicating hydrocephalus1GPSM2 CL E G H29899604213Chudley-McCullough syndrome604213C1858695OMIM127929501609245
HP:0000238HP:0001334Communicating hydrocephalus1GPSM2 CL E G H29899604213Chudley-McCullough syndrome604213C1858695OMIM127929501609245
HP:0000238HP:0006882Severe hydrocephalus1GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM14144696611499
HP:0000238HP:0002343Normal pressure hydrocephalus1GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM14144696611499
HP:0000238HP:0010953Noncommunicating hydrocephalus1GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM14144696611499
HP:0000238HP:0001334Communicating hydrocephalus1GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM14144696611499
HP:0000238HP:0001334Communicating hydrocephalus1HBA1 CL E G H3039163596ORPHA13944823141800
HP:0000238HP:0006882Severe hydrocephalus1HBA1 CL E G H3039163596ORPHA13944823141800
HP:0000238HP:0002343Normal pressure hydrocephalus1HBA1 CL E G H3039163596ORPHA13944823141800
HP:0000238HP:0010953Noncommunicating hydrocephalus1HBA1 CL E G H3039163596ORPHA13944823141800
HP:0000238HP:0006882Severe hydrocephalus1HBA2 CL E G H3040163596ORPHA13504824141850
HP:0000238HP:0002343Normal pressure hydrocephalus1HBA2 CL E G H3040163596ORPHA13504824141850
HP:0000238HP:0010953Noncommunicating hydrocephalus1HBA2 CL E G H3040163596ORPHA13504824141850
HP:0000238HP:0001334Communicating hydrocephalus1HBA2 CL E G H3040163596ORPHA13504824141850
HP:0000238HP:0002343Normal pressure hydrocephalus1HCCS CL E G H3052309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM12344837300056
HP:0000238HP:0010953Noncommunicating hydrocephalus1HCCS CL E G H3052309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM12344837300056
HP:0000238HP:0001334Communicating hydrocephalus1HCCS CL E G H3052309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM12344837300056
HP:0000238HP:0006882Severe hydrocephalus1HCCS CL E G H3052309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM12344837300056
HP:0000238HP:0002343Normal pressure hydrocephalus1HDAC6 CL E G H10013163966ORPHA123814064300272
HP:0000238HP:0010953Noncommunicating hydrocephalus1HDAC6 CL E G H10013163966ORPHA123814064300272
HP:0000238HP:0001334Communicating hydrocephalus1HDAC6 CL E G H10013163966ORPHA123814064300272
HP:0000238HP:0006882Severe hydrocephalus1HDAC6 CL E G H10013163966ORPHA123814064300272
HP:0000238HP:0002343Normal pressure hydrocephalus1HDAC6 CL E G H10013300863Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia300863C3275476OMIM123814064300272
HP:0000238HP:0010953Noncommunicating hydrocephalus1HDAC6 CL E G H10013300863Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia300863C3275476OMIM123814064300272
HP:0000238HP:0001334Communicating hydrocephalus1HDAC6 CL E G H10013300863Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia300863C3275476OMIM123814064300272
HP:0000238HP:0006882Severe hydrocephalus1HDAC6 CL E G H10013300863Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia300863C3275476OMIM123814064300272
HP:0000238HP:0001334Communicating hydrocephalus1HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM16225173190020
HP:0000238HP:0006882Severe hydrocephalus1HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM16225173190020
HP:0000238HP:0002343Normal pressure hydrocephalus1HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM16225173190020
HP:0000238HP:0010953Noncommunicating hydrocephalus1HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM16225173190020
HP:0000238HP:0002343Normal pressure hydrocephalus1HYLS1 CL E G H2198442189ORPHA131426558610693
HP:0000238HP:0010953Noncommunicating hydrocephalus1HYLS1 CL E G H2198442189ORPHA131426558610693
HP:0000238HP:0001334Communicating hydrocephalus1HYLS1 CL E G H2198442189ORPHA131426558610693
HP:0000238HP:0006882Severe hydrocephalus1HYLS1 CL E G H2198442189ORPHA131426558610693
HP:0000238HP:0001334Communicating hydrocephalus1ICK CL E G H22858612651Endocrine-cerebroosteodysplasia612651C2675227OMIM121219612325
HP:0000238HP:0006882Severe hydrocephalus1ICK CL E G H22858612651Endocrine-cerebroosteodysplasia612651C2675227OMIM121219612325
HP:0000238HP:0002343Normal pressure hydrocephalus1ICK CL E G H22858612651Endocrine-cerebroosteodysplasia612651C2675227OMIM121219612325
HP:0000238HP:0010953Noncommunicating hydrocephalus1ICK CL E G H22858612651Endocrine-cerebroosteodysplasia612651C2675227OMIM121219612325
HP:0000238HP:0001334Communicating hydrocephalus1IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM19315389300823
HP:0000238HP:0006882Severe hydrocephalus1IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM19315389300823
HP:0000238HP:0002343Normal pressure hydrocephalus1IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM19315389300823
HP:0000238HP:0010953Noncommunicating hydrocephalus1IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM19315389300823
HP:0000238HP:0001334Communicating hydrocephalus1IDUA CL E G H342593473ORPHA117885391252800
HP:0000238HP:0006882Severe hydrocephalus1IDUA CL E G H342593473ORPHA117885391252800
HP:0000238HP:0002343Normal pressure hydrocephalus1IDUA CL E G H342593473ORPHA117885391252800
HP:0000238HP:0010953Noncommunicating hydrocephalus1IDUA CL E G H342593473ORPHA117885391252800
HP:0000238HP:0002343Normal pressure hydrocephalus1IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM117885391252800
HP:0000238HP:0010953Noncommunicating hydrocephalus1IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM117885391252800
HP:0000238HP:0001334Communicating hydrocephalus1IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM117885391252800
HP:0000238HP:0006882Severe hydrocephalus1IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM117885391252800
HP:0000238HP:0010953Noncommunicating hydrocephalus1IFT43 CL E G H112752617866SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY617866CN795020OMIM125729669614068
HP:0000238HP:0001334Communicating hydrocephalus1IFT43 CL E G H112752617866SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY617866CN795020OMIM125729669614068
HP:0000238HP:0006882Severe hydrocephalus1IFT43 CL E G H112752617866SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY617866CN795020OMIM125729669614068
HP:0000238HP:0002343Normal pressure hydrocephalus1IFT43 CL E G H112752617866SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY617866CN795020OMIM125729669614068
HP:0000238HP:0006882Severe hydrocephalus1ISPD CL E G H729920899ORPHA173337276614631
HP:0000238HP:0002343Normal pressure hydrocephalus1ISPD CL E G H729920899ORPHA173337276614631
HP:0000238HP:0010953Noncommunicating hydrocephalus1ISPD CL E G H729920899ORPHA173337276614631
HP:0000238HP:0001334Communicating hydrocephalus1ISPD CL E G H729920899ORPHA173337276614631
HP:0000238HP:0010953Noncommunicating hydrocephalus1ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM173337276614631
HP:0000238HP:0001334Communicating hydrocephalus1ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM173337276614631
HP:0000238HP:0006882Severe hydrocephalus1ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM173337276614631
HP:0000238HP:0002343Normal pressure hydrocephalus1ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM173337276614631
HP:0000238HP:0010953Noncommunicating hydrocephalus1KDM6A CL E G H74032322ORPHA191612637300128
HP:0000238HP:0001334Communicating hydrocephalus1KDM6A CL E G H74032322ORPHA191612637300128
HP:0000238HP:0006882Severe hydrocephalus1KDM6A CL E G H74032322ORPHA191612637300128
HP:0000238HP:0002343Normal pressure hydrocephalus1KDM6A CL E G H74032322ORPHA191612637300128
HP:0000238HP:0001334Communicating hydrocephalus1KIAA0586 CL E G H9786616546Short-rib thoracic dysplasia 14 with polydactyly616546C4225286OMIM1125319960610178
HP:0000238HP:0006882Severe hydrocephalus1KIAA0586 CL E G H9786616546Short-rib thoracic dysplasia 14 with polydactyly616546C4225286OMIM1125319960610178
HP:0000238HP:0002343Normal pressure hydrocephalus1KIAA0586 CL E G H9786616546Short-rib thoracic dysplasia 14 with polydactyly616546C4225286OMIM1125319960610178
HP:0000238HP:0010953Noncommunicating hydrocephalus1KIAA0586 CL E G H9786616546Short-rib thoracic dysplasia 14 with polydactyly616546C4225286OMIM1125319960610178
HP:0000238HP:0002343Normal pressure hydrocephalus1KIAA1109 CL E G H84162617822ALKURAYA-KUCINSKAS SYNDROME617822CN737163OMIM126953611565
HP:0000238HP:0010953Noncommunicating hydrocephalus1KIAA1109 CL E G H84162617822ALKURAYA-KUCINSKAS SYNDROME617822CN737163OMIM126953611565
HP:0000238HP:0001334Communicating hydrocephalus1KIAA1109 CL E G H84162617822ALKURAYA-KUCINSKAS SYNDROME617822CN737163OMIM126953611565
HP:0000238HP:0006882Severe hydrocephalus1KIAA1109 CL E G H84162617822ALKURAYA-KUCINSKAS SYNDROME617822CN737163OMIM126953611565
HP:0000238HP:0010953Noncommunicating hydrocephalus1KIF1A CL E G H5472836ORPHA12622888601255
HP:0000238HP:0001334Communicating hydrocephalus1KIF1A CL E G H5472836ORPHA12622888601255
HP:0000238HP:0006882Severe hydrocephalus1KIF1A CL E G H5472836ORPHA12622888601255
HP:0000238HP:0002343Normal pressure hydrocephalus1KIF1A CL E G H5472836ORPHA12622888601255
HP:0000238HP:0010953Noncommunicating hydrocephalus1KIF7 CL E G H3746542189ORPHA1140130497611254
HP:0000238HP:0001334Communicating hydrocephalus1KIF7 CL E G H3746542189ORPHA1140130497611254
HP:0000238HP:0006882Severe hydrocephalus1KIF7 CL E G H3746542189ORPHA1140130497611254
HP:0000238HP:0002343Normal pressure hydrocephalus1KIF7 CL E G H3746542189ORPHA1140130497611254
HP:0000238HP:0001334Communicating hydrocephalus1KIF7 CL E G H374654614120Hydrolethalus syndrome 2614120C3279899OMIM1140130497611254
HP:0000238HP:0006882Severe hydrocephalus1KIF7 CL E G H374654614120Hydrolethalus syndrome 2614120C3279899OMIM1140130497611254
HP:0000238HP:0002343Normal pressure hydrocephalus1KIF7 CL E G H374654614120Hydrolethalus syndrome 2614120C3279899OMIM1140130497611254
HP:0000238HP:0010953Noncommunicating hydrocephalus1KIF7 CL E G H374654614120Hydrolethalus syndrome 2614120C3279899OMIM1140130497611254
HP:0000238HP:0001334Communicating hydrocephalus1KMT2D CL E G H80852322ORPHA143237133602113
HP:0000238HP:0006882Severe hydrocephalus1KMT2D CL E G H80852322ORPHA143237133602113
HP:0000238HP:0002343Normal pressure hydrocephalus1KMT2D CL E G H80852322ORPHA143237133602113
HP:0000238HP:0010953Noncommunicating hydrocephalus1KMT2D CL E G H80852322ORPHA143237133602113
HP:0000238HP:0006882Severe hydrocephalus1L1CAM CL E G H38972182ORPHA19686470308840
HP:0000238HP:0002343Normal pressure hydrocephalus1L1CAM CL E G H38972182ORPHA19686470308840
HP:0000238HP:0010953Noncommunicating hydrocephalus1L1CAM CL E G H38972182ORPHA19686470308840
HP:0000238HP:0001334Communicating hydrocephalus1L1CAM CL E G H38972182ORPHA19686470308840
HP:0000238HP:0010953Noncommunicating hydrocephalus1L1CAM CL E G H3897304100Corpus callosum, partial agenesis of, X-linked304100C1839909OMIM19686470308840
HP:0000238HP:0001334Communicating hydrocephalus1L1CAM CL E G H3897304100Corpus callosum, partial agenesis of, X-linked304100C1839909OMIM19686470308840
HP:0000238HP:0006882Severe hydrocephalus1L1CAM CL E G H3897304100Corpus callosum, partial agenesis of, X-linked304100C1839909OMIM19686470308840
HP:0000238HP:0002343Normal pressure hydrocephalus1L1CAM CL E G H3897304100Corpus callosum, partial agenesis of, X-linked304100C1839909OMIM19686470308840
HP:0000238HP:0002343Normal pressure hydrocephalus1L1CAM CL E G H3897303350Spastic paraplegia 1303350C0795953OMIM19686470308840
HP:0000238HP:0010953Noncommunicating hydrocephalus1L1CAM CL E G H3897303350Spastic paraplegia 1303350C0795953OMIM19686470308840
HP:0000238HP:0001334Communicating hydrocephalus1L1CAM CL E G H3897303350Spastic paraplegia 1303350C0795953OMIM19686470308840
HP:0000238HP:0006882Severe hydrocephalus1L1CAM CL E G H3897303350Spastic paraplegia 1303350C0795953OMIM19686470308840
HP:0000238HP:0001334Communicating hydrocephalus1L1CAM CL E G H3897307000X-linked hydrocephalus syndrome307000C0265216OMIM19686470308840
HP:0000238HP:0006882Severe hydrocephalus1L1CAM CL E G H3897307000X-linked hydrocephalus syndrome307000C0265216OMIM19686470308840
HP:0000238HP:0002343Normal pressure hydrocephalus1L1CAM CL E G H3897307000X-linked hydrocephalus syndrome307000C0265216OMIM19686470308840
HP:0000238HP:0010953Noncommunicating hydrocephalus1L1CAM CL E G H3897307000X-linked hydrocephalus syndrome307000C0265216OMIM19686470308840
HP:0000238HP:0010953Noncommunicating hydrocephalus1LAMB1 CL E G H3912615191Lissencephaly 5615191C3554657OMIM17676486150240
HP:0000238HP:0001334Communicating hydrocephalus1LAMB1 CL E G H3912615191Lissencephaly 5615191C3554657OMIM17676486150240
HP:0000238HP:0006882Severe hydrocephalus1LAMB1 CL E G H3912615191Lissencephaly 5615191C3554657OMIM17676486150240
HP:0000238HP:0002343Normal pressure hydrocephalus1LAMB1 CL E G H3912615191Lissencephaly 5615191C3554657OMIM17676486150240
HP:0000238HP:0006882Severe hydrocephalus1LARGE1 CL E G H9215899ORPHA17866511603590
HP:0000238HP:0001334Communicating hydrocephalus1LARGE1 CL E G H9215588ORPHA17866511603590
HP:0000238HP:0002343Normal pressure hydrocephalus1LARGE1 CL E G H9215899ORPHA17866511603590
HP:0000238HP:0006882Severe hydrocephalus1LARGE1 CL E G H9215588ORPHA17866511603590
HP:0000238HP:0010953Noncommunicating hydrocephalus1LARGE1 CL E G H9215899ORPHA17866511603590
HP:0000238HP:0002343Normal pressure hydrocephalus1LARGE1 CL E G H9215588ORPHA17866511603590
HP:0000238HP:0001334Communicating hydrocephalus1LARGE1 CL E G H9215899ORPHA17866511603590
HP:0000238HP:0010953Noncommunicating hydrocephalus1LARGE1 CL E G H9215588ORPHA17866511603590
HP:0000238HP:0002343Normal pressure hydrocephalus1LARGE1 CL E G H9215613154Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6613154C3150414OMIM17866511603590
HP:0000238HP:0010953Noncommunicating hydrocephalus1LARGE1 CL E G H9215613154Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6613154C3150414OMIM17866511603590
HP:0000238HP:0001334Communicating hydrocephalus1LARGE1 CL E G H9215613154Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6613154C3150414OMIM17866511603590
HP:0000238HP:0006882Severe hydrocephalus1LARGE1 CL E G H9215613154Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6613154C3150414OMIM17866511603590
HP:0000238HP:0002343Normal pressure hydrocephalus1LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17866511603590
HP:0000238HP:0010953Noncommunicating hydrocephalus1LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17866511603590
HP:0000238HP:0001334Communicating hydrocephalus1LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17866511603590
HP:0000238HP:0006882Severe hydrocephalus1LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17866511603590
HP:0000238HP:0002343Normal pressure hydrocephalus1MBTPS2 CL E G H5136085284ORPHA130915455300294
HP:0000238HP:0010953Noncommunicating hydrocephalus1MBTPS2 CL E G H5136085284ORPHA130915455300294
HP:0000238HP:0001334Communicating hydrocephalus1MBTPS2 CL E G H5136085284ORPHA130915455300294
HP:0000238HP:0006882Severe hydrocephalus1MBTPS2 CL E G H5136085284ORPHA130915455300294
HP:0000238HP:0002343Normal pressure hydrocephalus1MED12 CL E G H9968305450FG syndrome305450C0220769OMIM1157311957300188
HP:0000238HP:0010953Noncommunicating hydrocephalus1MED12 CL E G H9968305450FG syndrome305450C0220769OMIM1157311957300188
HP:0000238HP:0001334Communicating hydrocephalus1MED12 CL E G H9968305450FG syndrome305450C0220769OMIM1157311957300188
HP:0000238HP:0006882Severe hydrocephalus1MED12 CL E G H9968305450FG syndrome305450C0220769OMIM1157311957300188
HP:0000238HP:0002343Normal pressure hydrocephalus1MKS1 CL E G H54903249000Meckel syndrome type 1249000C3714506OMIM18397121609883
HP:0000238HP:0010953Noncommunicating hydrocephalus1MKS1 CL E G H54903249000Meckel syndrome type 1249000C3714506OMIM18397121609883
HP:0000238HP:0001334Communicating hydrocephalus1MKS1 CL E G H54903249000Meckel syndrome type 1249000C3714506OMIM18397121609883
HP:0000238HP:0006882Severe hydrocephalus1MKS1 CL E G H54903249000Meckel syndrome type 1249000C3714506OMIM18397121609883
HP:0000238HP:0006882Severe hydrocephalus1MMACHC CL E G H2597479282ORPHA152424525609831
HP:0000238HP:0002343Normal pressure hydrocephalus1MMACHC CL E G H2597479282ORPHA152424525609831
HP:0000238HP:0010953Noncommunicating hydrocephalus1MMACHC CL E G H2597479282ORPHA152424525609831
HP:0000238HP:0001334Communicating hydrocephalus1MMACHC CL E G H2597479282ORPHA152424525609831
HP:0000238HP:0010953Noncommunicating hydrocephalus1MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM152424525609831
HP:0000238HP:0001334Communicating hydrocephalus1MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM152424525609831
HP:0000238HP:0006882Severe hydrocephalus1MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM152424525609831
HP:0000238HP:0002343Normal pressure hydrocephalus1MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM152424525609831
HP:0000238HP:0006882Severe hydrocephalus1MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM18077448300415
HP:0000238HP:0002343Normal pressure hydrocephalus1MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM18077448300415
HP:0000238HP:0010953Noncommunicating hydrocephalus1MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM18077448300415
HP:0000238HP:0001334Communicating hydrocephalus1MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM18077448300415
HP:0000238HP:0006882Severe hydrocephalus1MUSK CL E G H4593208150Pena-Shokeir syndrome type I208150C1276035OMIM16207525601296
HP:0000238HP:0002343Normal pressure hydrocephalus1MUSK CL E G H4593208150Pena-Shokeir syndrome type I208150C1276035OMIM16207525601296
HP:0000238HP:0010953Noncommunicating hydrocephalus1MUSK CL E G H4593208150Pena-Shokeir syndrome type I208150C1276035OMIM16207525601296
HP:0000238HP:0001334Communicating hydrocephalus1MUSK CL E G H4593208150Pena-Shokeir syndrome type I208150C1276035OMIM16207525601296
HP:0000238HP:0010953Noncommunicating hydrocephalus1NDUFB11 CL E G H54539309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM120920372300403
HP:0000238HP:0001334Communicating hydrocephalus1NDUFB11 CL E G H54539309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM120920372300403
HP:0000238HP:0006882Severe hydrocephalus1NDUFB11 CL E G H54539309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM120920372300403
HP:0000238HP:0002343Normal pressure hydrocephalus1NDUFB11 CL E G H54539309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM120920372300403
HP:0000238HP:0006882Severe hydrocephalus1NF1 CL E G H4763162200Neurofibromatosis, type 1162200C0027831OMIM1123927765613113
HP:0000238HP:0002343Normal pressure hydrocephalus1NF1 CL E G H4763162200Neurofibromatosis, type 1162200C0027831OMIM1123927765613113
HP:0000238HP:0010953Noncommunicating hydrocephalus1NF1 CL E G H4763162200Neurofibromatosis, type 1162200C0027831OMIM1123927765613113
HP:0000238HP:0001334Communicating hydrocephalus1NF1 CL E G H4763162200Neurofibromatosis, type 1162200C0027831OMIM1123927765613113
HP:0000238HP:0006882Severe hydrocephalus1NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA131877881190198
HP:0000238HP:0002343Normal pressure hydrocephalus1NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA131877881190198
HP:0000238HP:0010953Noncommunicating hydrocephalus1NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA131877881190198
HP:0000238HP:0001334Communicating hydrocephalus1NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA131877881190198
HP:0000238HP:0001334Communicating hydrocephalus1NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM111227882600275
HP:0000238HP:0006882Severe hydrocephalus1NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM111227882600275
HP:0000238HP:0002343Normal pressure hydrocephalus1NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM111227882600275
HP:0000238HP:0010953Noncommunicating hydrocephalus1NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM111227882600275
HP:0000238HP:0002343Normal pressure hydrocephalus1OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM110202567300170
HP:0000238HP:0010953Noncommunicating hydrocephalus1OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM110202567300170
HP:0000238HP:0001334Communicating hydrocephalus1OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM110202567300170
HP:0000238HP:0006882Severe hydrocephalus1OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM110202567300170
HP:0000238HP:0006882Severe hydrocephalus1OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0000238HP:0002343Normal pressure hydrocephalus1OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0000238HP:0010953Noncommunicating hydrocephalus1OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0000238HP:0001334Communicating hydrocephalus1OGDH CL E G H496731Serpiginous choroiditisORPHA11718124613022
HP:0000238HP:0002343Normal pressure hydrocephalus1OSTM1 CL E G H28962259720Osteopetrosis, autosomal recessive 5259720C1968603OMIM127121652607649
HP:0000238HP:0010953Noncommunicating hydrocephalus1OSTM1 CL E G H28962259720Osteopetrosis, autosomal recessive 5259720C1968603OMIM127121652607649
HP:0000238HP:0001334Communicating hydrocephalus1OSTM1 CL E G H28962259720Osteopetrosis, autosomal recessive 5259720C1968603OMIM127121652607649
HP:0000238HP:0006882Severe hydrocephalus1OSTM1 CL E G H28962259720Osteopetrosis, autosomal recessive 5259720C1968603OMIM127121652607649
HP:0000238HP:0001334Communicating hydrocephalus1P4HB CL E G H5034112240Cole-Carpenter syndrome 1112240C4317154OMIM12428548176790
HP:0000238HP:0006882Severe hydrocephalus1P4HB CL E G H5034112240Cole-Carpenter syndrome 1112240C4317154OMIM12428548176790
HP:0000238HP:0002343Normal pressure hydrocephalus1P4HB CL E G H5034112240Cole-Carpenter syndrome 1112240C4317154OMIM12428548176790
HP:0000238HP:0010953Noncommunicating hydrocephalus1P4HB CL E G H5034112240Cole-Carpenter syndrome 1112240C4317154OMIM12428548176790
HP:0000238HP:0006882Severe hydrocephalus1PEX19 CL E G H5824614886Peroxisome biogenesis disorder 12A614886C3554002OMIM13799713600279
HP:0000238HP:0002343Normal pressure hydrocephalus1PEX19 CL E G H5824614886Peroxisome biogenesis disorder 12A614886C3554002OMIM13799713600279
HP:0000238HP:0010953Noncommunicating hydrocephalus1PEX19 CL E G H5824614886Peroxisome biogenesis disorder 12A614886C3554002OMIM13799713600279
HP:0000238HP:0001334Communicating hydrocephalus1PEX19 CL E G H5824614886Peroxisome biogenesis disorder 12A614886C3554002OMIM13799713600279
HP:0000238HP:0006882Severe hydrocephalus1PIK3CA CL E G H529060040ORPHA111598975171834
HP:0000238HP:0002343Normal pressure hydrocephalus1PIK3CA CL E G H529060040ORPHA111598975171834
HP:0000238HP:0010953Noncommunicating hydrocephalus1PIK3CA CL E G H529060040ORPHA111598975171834
HP:0000238HP:0001334Communicating hydrocephalus1PIK3CA CL E G H529060040ORPHA111598975171834
HP:0000238HP:0010953Noncommunicating hydrocephalus1PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM111598975171834
HP:0000238HP:0001334Communicating hydrocephalus1PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM111598975171834
HP:0000238HP:0006882Severe hydrocephalus1PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM111598975171834
HP:0000238HP:0002343Normal pressure hydrocephalus1PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM111598975171834
HP:0000238HP:0006882Severe hydrocephalus1PIK3R2 CL E G H529683473ORPHA13558980603157
HP:0000238HP:0002343Normal pressure hydrocephalus1PIK3R2 CL E G H529683473ORPHA13558980603157
HP:0000238HP:0010953Noncommunicating hydrocephalus1PIK3R2 CL E G H529683473ORPHA13558980603157
HP:0000238HP:0001334Communicating hydrocephalus1PIK3R2 CL E G H529683473ORPHA13558980603157
HP:0000238HP:0001334Communicating hydrocephalus1PIK3R2 CL E G H5296603387Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1603387C1863924OMIM13558980603157
HP:0000238HP:0006882Severe hydrocephalus1PIK3R2 CL E G H5296603387Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1603387C1863924OMIM13558980603157
HP:0000238HP:0002343Normal pressure hydrocephalus1PIK3R2 CL E G H5296603387Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1603387C1863924OMIM13558980603157
HP:0000238HP:0010953Noncommunicating hydrocephalus1PIK3R2 CL E G H5296603387Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1603387C1863924OMIM13558980603157
HP:0000238HP:0010953Noncommunicating hydrocephalus1PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM12979071173350
HP:0000238HP:0001334Communicating hydrocephalus1PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM12979071173350
HP:0000238HP:0006882Severe hydrocephalus1PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM12979071173350
HP:0000238HP:0002343Normal pressure hydrocephalus1PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM12979071173350
HP:0000238HP:0002343Normal pressure hydrocephalus1POMGNT1 CL E G H55624899ORPHA1117419139606822
HP:0000238HP:0006882Severe hydrocephalus1POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0000238HP:0010953Noncommunicating hydrocephalus1POMGNT1 CL E G H55624899ORPHA1117419139606822
HP:0000238HP:0002343Normal pressure hydrocephalus1POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0000238HP:0001334Communicating hydrocephalus1POMGNT1 CL E G H55624899ORPHA1117419139606822
HP:0000238HP:0010953Noncommunicating hydrocephalus1POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0000238HP:0006882Severe hydrocephalus1POMGNT1 CL E G H55624899ORPHA1117419139606822
HP:0000238HP:0001334Communicating hydrocephalus1POMGNT1 CL E G H55624588ORPHA1117419139606822
HP:0000238HP:0002343Normal pressure hydrocephalus1POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0000238HP:0010953Noncommunicating hydrocephalus1POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0000238HP:0001334Communicating hydrocephalus1POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0000238HP:0006882Severe hydrocephalus1POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM1117419139606822
HP:0000238HP:0010953Noncommunicating hydrocephalus1POMGNT2 CL E G H84892899ORPHA141625902614828
HP:0000238HP:0001334Communicating hydrocephalus1POMGNT2 CL E G H84892899ORPHA141625902614828
HP:0000238HP:0006882Severe hydrocephalus1POMGNT2 CL E G H84892899ORPHA141625902614828
HP:0000238HP:0002343Normal pressure hydrocephalus1POMGNT2 CL E G H84892899ORPHA141625902614828
HP:0000238HP:0001334Communicating hydrocephalus1POMGNT2 CL E G H84892614830Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8614830C3553813OMIM141625902614828
HP:0000238HP:0006882Severe hydrocephalus1POMGNT2 CL E G H84892614830Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8614830C3553813OMIM141625902614828
HP:0000238HP:0002343Normal pressure hydrocephalus1POMGNT2 CL E G H84892614830Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8614830C3553813OMIM141625902614828
HP:0000238HP:0010953Noncommunicating hydrocephalus1POMGNT2 CL E G H84892614830Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8614830C3553813OMIM141625902614828
HP:0000238HP:0001334Communicating hydrocephalus1POMK CL E G H84197899ORPHA130726267615247
HP:0000238HP:0006882Severe hydrocephalus1POMK CL E G H84197899ORPHA130726267615247
HP:0000238HP:0002343Normal pressure hydrocephalus1POMK CL E G H84197899ORPHA130726267615247
HP:0000238HP:0010953Noncommunicating hydrocephalus1POMK CL E G H84197899ORPHA130726267615247
HP:0000238HP:0002343Normal pressure hydrocephalus1POMT1 CL E G H10585588ORPHA19069202607423
HP:0000238HP:0006882Severe hydrocephalus1POMT1 CL E G H10585899ORPHA19069202607423
HP:0000238HP:0002343Normal pressure hydrocephalus1POMT1 CL E G H10585899ORPHA19069202607423
HP:0000238HP:0010953Noncommunicating hydrocephalus1POMT1 CL E G H10585588ORPHA19069202607423
HP:0000238HP:0010953Noncommunicating hydrocephalus1POMT1 CL E G H10585899ORPHA19069202607423
HP:0000238HP:0001334Communicating hydrocephalus1POMT1 CL E G H10585588ORPHA19069202607423
HP:0000238HP:0006882Severe hydrocephalus1POMT1 CL E G H10585588ORPHA19069202607423
HP:0000238HP:0001334Communicating hydrocephalus1POMT1 CL E G H10585899ORPHA19069202607423
HP:0000238HP:0010953Noncommunicating hydrocephalus1POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19069202607423
HP:0000238HP:0001334Communicating hydrocephalus1POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19069202607423
HP:0000238HP:0006882Severe hydrocephalus1POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19069202607423
HP:0000238HP:0002343Normal pressure hydrocephalus1POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM19069202607423
HP:0000238HP:0010953Noncommunicating hydrocephalus1POMT2 CL E G H29954588ORPHA193619743607439
HP:0000238HP:0002343Normal pressure hydrocephalus1POMT2 CL E G H29954899ORPHA193619743607439
HP:0000238HP:0001334Communicating hydrocephalus1POMT2 CL E G H29954588ORPHA193619743607439
HP:0000238HP:0010953Noncommunicating hydrocephalus1POMT2 CL E G H29954899ORPHA193619743607439
HP:0000238HP:0006882Severe hydrocephalus1POMT2 CL E G H29954588ORPHA193619743607439
HP:0000238HP:0001334Communicating hydrocephalus1POMT2 CL E G H29954899ORPHA193619743607439
HP:0000238HP:0002343Normal pressure hydrocephalus1POMT2 CL E G H29954588ORPHA193619743607439
HP:0000238HP:0006882Severe hydrocephalus1POMT2 CL E G H29954899ORPHA193619743607439
HP:0000238HP:0001334Communicating hydrocephalus1POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM193619743607439
HP:0000238HP:0006882Severe hydrocephalus1POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM193619743607439
HP:0000238HP:0002343Normal pressure hydrocephalus1POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM193619743607439
HP:0000238HP:0010953Noncommunicating hydrocephalus1POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM193619743607439
HP:0000238HP:0001334Communicating hydrocephalus1POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM193619743607439
HP:0000238HP:0006882Severe hydrocephalus1POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM193619743607439
HP:0000238HP:0002343Normal pressure hydrocephalus1POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM193619743607439
HP:0000238HP:0010953Noncommunicating hydrocephalus1POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM193619743607439
HP:0000238HP:0010953Noncommunicating hydrocephalus1POR CL E G H5447207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis207410C2936791OMIM15129208124015
HP:0000238HP:0001334Communicating hydrocephalus1POR CL E G H5447207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis207410C2936791OMIM15129208124015
HP:0000238HP:0006882Severe hydrocephalus1POR CL E G H5447207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis207410C2936791OMIM15129208124015
HP:0000238HP:0002343Normal pressure hydrocephalus1POR CL E G H5447207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis207410C2936791OMIM15129208124015
HP:0000238HP:0010953Noncommunicating hydrocephalus1PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM128817652300651
HP:0000238HP:0001334Communicating hydrocephalus1PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM128817652300651
HP:0000238HP:0006882Severe hydrocephalus1PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM128817652300651
HP:0000238HP:0002343Normal pressure hydrocephalus1PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM128817652300651
HP:0000238HP:0002343Normal pressure hydrocephalus1PPP1CB CL E G H55002701Noonan syndrome-like disorder with loose anagen hairC3501846ORPHA12159282600590
HP:0000238HP:0010953Noncommunicating hydrocephalus1PPP1CB CL E G H55002701Noonan syndrome-like disorder with loose anagen hairC3501846ORPHA12159282600590
HP:0000238HP:0001334Communicating hydrocephalus1PPP1CB CL E G H55002701Noonan syndrome-like disorder with loose anagen hairC3501846ORPHA12159282600590
HP:0000238HP:0006882Severe hydrocephalus1PPP1CB CL E G H55002701Noonan syndrome-like disorder with loose anagen hairC3501846ORPHA12159282600590
HP:0000238HP:0006882Severe hydrocephalus1PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM13589302605983
HP:0000238HP:0002343Normal pressure hydrocephalus1PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM13589302605983
HP:0000238HP:0010953Noncommunicating hydrocephalus1PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM13589302605983
HP:0000238HP:0001334Communicating hydrocephalus1PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM13589302605983
HP:0000238HP:0001334Communicating hydrocephalus1PPP2R5D CL E G H5528616355Mental retardation, autosomal dominant 35616355C4225354OMIM13979312601646
HP:0000238HP:0006882Severe hydrocephalus1PPP2R5D CL E G H5528616355Mental retardation, autosomal dominant 35616355C4225354OMIM13979312601646
HP:0000238HP:0002343Normal pressure hydrocephalus1PPP2R5D CL E G H5528616355Mental retardation, autosomal dominant 35616355C4225354OMIM13979312601646
HP:0000238HP:0010953Noncommunicating hydrocephalus1PPP2R5D CL E G H5528616355Mental retardation, autosomal dominant 35616355C4225354OMIM13979312601646
HP:0000238HP:0001334Communicating hydrocephalus1PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1649352176763
HP:0000238HP:0006882Severe hydrocephalus1PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1649352176763
HP:0000238HP:0002343Normal pressure hydrocephalus1PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1649352176763
HP:0000238HP:0010953Noncommunicating hydrocephalus1PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1649352176763
HP:0000238HP:0010953Noncommunicating hydrocephalus1PRKAR1A CL E G H5573101800Acrodysostosis 1 with or without hormone resistance101800C3276228OMIM111319388188830
HP:0000238HP:0001334Communicating hydrocephalus1PRKAR1A CL E G H5573101800Acrodysostosis 1 with or without hormone resistance101800C3276228OMIM111319388188830
HP:0000238HP:0006882Severe hydrocephalus1PRKAR1A CL E G H5573101800Acrodysostosis 1 with or without hormone resistance101800C3276228OMIM111319388188830
HP:0000238HP:0002343Normal pressure hydrocephalus1PRKAR1A CL E G H5573101800Acrodysostosis 1 with or without hormone resistance101800C3276228OMIM111319388188830
HP:0000238HP:0001334Communicating hydrocephalus1PTCH1 CL E G H572777301ORPHA144879585601309
HP:0000238HP:0006882Severe hydrocephalus1PTCH1 CL E G H572777301ORPHA144879585601309
HP:0000238HP:0002343Normal pressure hydrocephalus1PTCH1 CL E G H572777301ORPHA144879585601309
HP:0000238HP:0010953Noncommunicating hydrocephalus1PTCH1 CL E G H572777301ORPHA144879585601309
HP:0000238HP:0006882Severe hydrocephalus1PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM144879585601309
HP:0000238HP:0002343Normal pressure hydrocephalus1PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM144879585601309
HP:0000238HP:0010953Noncommunicating hydrocephalus1PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM144879585601309
HP:0000238HP:0001334Communicating hydrocephalus1PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM144879585601309
HP:0000238HP:0006882Severe hydrocephalus1PTCH1 CL E G H5727610828Holoprosencephaly 7610828C1835820OMIM144879585601309
HP:0000238HP:0002343Normal pressure hydrocephalus1PTCH1 CL E G H5727610828Holoprosencephaly 7610828C1835820OMIM144879585601309
HP:0000238HP:0010953Noncommunicating hydrocephalus1PTCH1 CL E G H5727610828Holoprosencephaly 7610828C1835820OMIM144879585601309
HP:0000238HP:0001334Communicating hydrocephalus1PTCH1 CL E G H5727610828Holoprosencephaly 7610828C1835820OMIM144879585601309
HP:0000238HP:0002343Normal pressure hydrocephalus1PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM17919586603673
HP:0000238HP:0010953Noncommunicating hydrocephalus1PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM17919586603673
HP:0000238HP:0001334Communicating hydrocephalus1PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM17919586603673
HP:0000238HP:0006882Severe hydrocephalus1PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM17919586603673
HP:0000238HP:0002343Normal pressure hydrocephalus1PTEN CL E G H572865285ORPHA130129588601728
HP:0000238HP:0010953Noncommunicating hydrocephalus1PTEN CL E G H572865285ORPHA130129588601728
HP:0000238HP:0001334Communicating hydrocephalus1PTEN CL E G H572865285ORPHA130129588601728
HP:0000238HP:0006882Severe hydrocephalus1PTEN CL E G H572865285ORPHA130129588601728
HP:0000238HP:0002343Normal pressure hydrocephalus1PYCR1 CL E G H5831612940Autosomal recessive cutis laxa type 2B612940C2751987OMIM12879721179035
HP:0000238HP:0010953Noncommunicating hydrocephalus1PYCR1 CL E G H5831612940Autosomal recessive cutis laxa type 2B612940C2751987OMIM12879721179035
HP:0000238HP:0001334Communicating hydrocephalus1PYCR1 CL E G H5831612940Autosomal recessive cutis laxa type 2B612940C2751987OMIM12879721179035
HP:0000238HP:0006882Severe hydrocephalus1PYCR1 CL E G H5831612940Autosomal recessive cutis laxa type 2B612940C2751987OMIM12879721179035
HP:0000238HP:0001334Communicating hydrocephalus1RAD51 CL E G H5888617244Fanconi anemia, complementation group R617244C4284093OMIM13589817179617
HP:0000238HP:0006882Severe hydrocephalus1RAD51 CL E G H5888617244Fanconi anemia, complementation group R617244C4284093OMIM13589817179617
HP:0000238HP:0002343Normal pressure hydrocephalus1RAD51 CL E G H5888617244Fanconi anemia, complementation group R617244C4284093OMIM13589817179617
HP:0000238HP:0010953Noncommunicating hydrocephalus1RAD51 CL E G H5888617244Fanconi anemia, complementation group R617244C4284093OMIM13589817179617
HP:0000238HP:0006882Severe hydrocephalus1RAP1A CL E G H59062322ORPHA1419855179520
HP:0000238HP:0002343Normal pressure hydrocephalus1RAP1A CL E G H59062322ORPHA1419855179520
HP:0000238HP:0010953Noncommunicating hydrocephalus1RAP1A CL E G H59062322ORPHA1419855179520
HP:0000238HP:0001334Communicating hydrocephalus1RAP1A CL E G H59062322ORPHA1419855179520
HP:0000238HP:0002343Normal pressure hydrocephalus1RAP1B CL E G H59082322ORPHA1359857179530
HP:0000238HP:0010953Noncommunicating hydrocephalus1RAP1B CL E G H59082322ORPHA1359857179530
HP:0000238HP:0001334Communicating hydrocephalus1RAP1B CL E G H59082322ORPHA1359857179530
HP:0000238HP:0006882Severe hydrocephalus1RAP1B CL E G H59082322ORPHA1359857179530
HP:0000238HP:0002343Normal pressure hydrocephalus1RAPSN CL E G H5913208150Pena-Shokeir syndrome type I208150C1276035OMIM15629863601592
HP:0000238HP:0010953Noncommunicating hydrocephalus1RAPSN CL E G H5913208150Pena-Shokeir syndrome type I208150C1276035OMIM15629863601592
HP:0000238HP:0001334Communicating hydrocephalus1RAPSN CL E G H5913208150Pena-Shokeir syndrome type I208150C1276035OMIM15629863601592
HP:0000238HP:0006882Severe hydrocephalus1RAPSN CL E G H5913208150Pena-Shokeir syndrome type I208150C1276035OMIM15629863601592
HP:0000238HP:0002343Normal pressure hydrocephalus1RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA11865724147183
HP:0000238HP:0010953Noncommunicating hydrocephalus1RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA11865724147183
HP:0000238HP:0001334Communicating hydrocephalus1RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA11865724147183
HP:0000238HP:0006882Severe hydrocephalus1RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA11865724147183
HP:0000238HP:0006882Severe hydrocephalus1RECQL4 CL E G H9401218600Baller-Gerold syndrome218600C0265308OMIM142599949603780
HP:0000238HP:0002343Normal pressure hydrocephalus1RECQL4 CL E G H9401218600Baller-Gerold syndrome218600C0265308OMIM142599949603780
HP:0000238HP:0010953Noncommunicating hydrocephalus1RECQL4 CL E G H9401218600Baller-Gerold syndrome218600C0265308OMIM142599949603780
HP:0000238HP:0001334Communicating hydrocephalus1RECQL4 CL E G H9401218600Baller-Gerold syndrome218600C0265308OMIM142599949603780
HP:0000238HP:0001334Communicating hydrocephalus1RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0000238HP:0006882Severe hydrocephalus1RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0000238HP:0002343Normal pressure hydrocephalus1RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0000238HP:0010953Noncommunicating hydrocephalus1RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0000238HP:0002343Normal pressure hydrocephalus1RNF125 CL E G H54941616260Tenorio syndrome616260C4015710OMIM110721150610432
HP:0000238HP:0010953Noncommunicating hydrocephalus1RNF125 CL E G H54941616260Tenorio syndrome616260C4015710OMIM110721150610432
HP:0000238HP:0001334Communicating hydrocephalus1RNF125 CL E G H54941616260Tenorio syndrome616260C4015710OMIM110721150610432
HP:0000238HP:0006882Severe hydrocephalus1RNF125 CL E G H54941616260Tenorio syndrome616260C4015710OMIM110721150610432
HP:0000238HP:0001334Communicating hydrocephalus1RSPO2 CL E G H3404193301Lowry syndromeORPHA19028583610575
HP:0000238HP:0006882Severe hydrocephalus1RSPO2 CL E G H3404193301Lowry syndromeORPHA19028583610575
HP:0000238HP:0002343Normal pressure hydrocephalus1RSPO2 CL E G H3404193301Lowry syndromeORPHA19028583610575
HP:0000238HP:0010953Noncommunicating hydrocephalus1RSPO2 CL E G H3404193301Lowry syndromeORPHA19028583610575
HP:0000238HP:0010953Noncommunicating hydrocephalus1RXYLT1 CL E G H10329899ORPHA127313530605862
HP:0000238HP:0001334Communicating hydrocephalus1RXYLT1 CL E G H10329899ORPHA127313530605862
HP:0000238HP:0006882Severe hydrocephalus1RXYLT1 CL E G H10329899ORPHA127313530605862
HP:0000238HP:0002343Normal pressure hydrocephalus1RXYLT1 CL E G H10329899ORPHA127313530605862
HP:0000238HP:0010953Noncommunicating hydrocephalus1SEC24D CL E G H9871616294Cole-Carpenter syndrome 2616294C4225382OMIM141610706607186
HP:0000238HP:0001334Communicating hydrocephalus1SEC24D CL E G H9871616294Cole-Carpenter syndrome 2616294C4225382OMIM141610706607186
HP:0000238HP:0006882Severe hydrocephalus1SEC24D CL E G H9871616294Cole-Carpenter syndrome 2616294C4225382OMIM141610706607186
HP:0000238HP:0002343Normal pressure hydrocephalus1SEC24D CL E G H9871616294Cole-Carpenter syndrome 2616294C4225382OMIM141610706607186
HP:0000238HP:0001334Communicating hydrocephalus1SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM110510771605593
HP:0000238HP:0006882Severe hydrocephalus1SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM110510771605593
HP:0000238HP:0002343Normal pressure hydrocephalus1SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM110510771605593
HP:0000238HP:0010953Noncommunicating hydrocephalus1SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM110510771605593
HP:0000238HP:0010953Noncommunicating hydrocephalus1SHOC2 CL E G H80362701Noonan syndrome-like disorder with loose anagen hairC3501846ORPHA145215454602775
HP:0000238HP:0001334Communicating hydrocephalus1SHOC2 CL E G H80362701Noonan syndrome-like disorder with loose anagen hairC3501846ORPHA145215454602775
HP:0000238HP:0006882Severe hydrocephalus1SHOC2 CL E G H80362701Noonan syndrome-like disorder with loose anagen hairC3501846ORPHA145215454602775
HP:0000238HP:0002343Normal pressure hydrocephalus1SHOC2 CL E G H80362701Noonan syndrome-like disorder with loose anagen hairC3501846ORPHA145215454602775
HP:0000238HP:0006882Severe hydrocephalus1SIK3 CL E G H23387618162SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE618162OMIM18629165614776
HP:0000238HP:0002343Normal pressure hydrocephalus1SIK3 CL E G H23387618162SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE618162OMIM18629165614776
HP:0000238HP:0010953Noncommunicating hydrocephalus1SIK3 CL E G H23387618162SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE618162OMIM18629165614776
HP:0000238HP:0001334Communicating hydrocephalus1SIK3 CL E G H23387618162SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE618162OMIM18629165614776
HP:0000238HP:0010953Noncommunicating hydrocephalus1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM152010933604322
HP:0000238HP:0001334Communicating hydrocephalus1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM152010933604322
HP:0000238HP:0006882Severe hydrocephalus1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM152010933604322
HP:0000238HP:0002343Normal pressure hydrocephalus1SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM152010933604322
HP:0000238HP:0002343Normal pressure hydrocephalus1SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM112320662608744
HP:0000238HP:0010953Noncommunicating hydrocephalus1SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM112320662608744
HP:0000238HP:0001334Communicating hydrocephalus1SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM112320662608744
HP:0000238HP:0006882Severe hydrocephalus1SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM112320662608744
HP:0000238HP:0010953Noncommunicating hydrocephalus1SMARCB1 CL E G H659899966ORPHA1104311103601607
HP:0000238HP:0001334Communicating hydrocephalus1SMARCB1 CL E G H659899966ORPHA1104311103601607
HP:0000238HP:0006882Severe hydrocephalus1SMARCB1 CL E G H659899966ORPHA1104311103601607
HP:0000238HP:0002343Normal pressure hydrocephalus1SMARCB1 CL E G H659899966ORPHA1104311103601607
HP:0000238HP:0010953Noncommunicating hydrocephalus1SNX10 CL E G H29887667ORPHA114714974614780
HP:0000238HP:0001334Communicating hydrocephalus1SNX10 CL E G H29887667ORPHA114714974614780
HP:0000238HP:0006882Severe hydrocephalus1SNX10 CL E G H29887667ORPHA114714974614780
HP:0000238HP:0002343Normal pressure hydrocephalus1SNX10 CL E G H29887667ORPHA114714974614780
HP:0000238HP:0006882Severe hydrocephalus1SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM136311204608160
HP:0000238HP:0002343Normal pressure hydrocephalus1SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM136311204608160
HP:0000238HP:0010953Noncommunicating hydrocephalus1SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM136311204608160
HP:0000238HP:0001334Communicating hydrocephalus1SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM136311204608160
HP:0000238HP:0010953Noncommunicating hydrocephalus1SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM1130616466607035
HP:0000238HP:0001334Communicating hydrocephalus1SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM1130616466607035
HP:0000238HP:0006882Severe hydrocephalus1SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM1130616466607035
HP:0000238HP:0002343Normal pressure hydrocephalus1SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM1130616466607035
HP:0000238HP:0010953Noncommunicating hydrocephalus1SUMF1 CL E G H285362585ORPHA174620376607939
HP:0000238HP:0001334Communicating hydrocephalus1SUMF1 CL E G H285362585ORPHA174620376607939
HP:0000238HP:0006882Severe hydrocephalus1SUMF1 CL E G H285362585ORPHA174620376607939
HP:0000238HP:0002343Normal pressure hydrocephalus1SUMF1 CL E G H285362585ORPHA174620376607939
HP:0000238HP:0006882Severe hydrocephalus1SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM174620376607939
HP:0000238HP:0002343Normal pressure hydrocephalus1SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM174620376607939
HP:0000238HP:0010953Noncommunicating hydrocephalus1SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM174620376607939
HP:0000238HP:0001334Communicating hydrocephalus1SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM174620376607939
HP:0000238HP:0001334Communicating hydrocephalus1TBX15 CL E G H6913260660Cousin syndrome260660C1850040OMIM118611594604127
HP:0000238HP:0006882Severe hydrocephalus1TBX15 CL E G H6913260660Cousin syndrome260660C1850040OMIM118611594604127
HP:0000238HP:0002343Normal pressure hydrocephalus1TBX15 CL E G H6913260660Cousin syndrome260660C1850040OMIM118611594604127
HP:0000238HP:0010953Noncommunicating hydrocephalus1TBX15 CL E G H6913260660Cousin syndrome260660C1850040OMIM118611594604127
HP:0000238HP:0001334Communicating hydrocephalus1TCIRG1 CL E G H10312667ORPHA1115711647604592
HP:0000238HP:0006882Severe hydrocephalus1TCIRG1 CL E G H10312667ORPHA1115711647604592
HP:0000238HP:0002343Normal pressure hydrocephalus1TCIRG1 CL E G H10312667ORPHA1115711647604592
HP:0000238HP:0010953Noncommunicating hydrocephalus1TCIRG1 CL E G H10312667ORPHA1115711647604592
HP:0000238HP:0006882Severe hydrocephalus1TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM1115711647604592
HP:0000238HP:0002343Normal pressure hydrocephalus1TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM1115711647604592
HP:0000238HP:0010953Noncommunicating hydrocephalus1TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM1115711647604592
HP:0000238HP:0001334Communicating hydrocephalus1TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM1115711647604592
HP:0000238HP:0001334Communicating hydrocephalus1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM123625018613277
HP:0000238HP:0006882Severe hydrocephalus1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM123625018613277
HP:0000238HP:0002343Normal pressure hydrocephalus1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM123625018613277
HP:0000238HP:0010953Noncommunicating hydrocephalus1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM123625018613277
HP:0000238HP:0002343Normal pressure hydrocephalus1TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM146614432614423
HP:0000238HP:0010953Noncommunicating hydrocephalus1TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM146614432614423
HP:0000238HP:0001334Communicating hydrocephalus1TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM146614432614423
HP:0000238HP:0006882Severe hydrocephalus1TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM146614432614423
HP:0000238HP:0010953Noncommunicating hydrocephalus1TNFRSF11A CL E G H8792612301Osteopetrosis autosomal recessive 7612301C2676766OMIM157211908603499
HP:0000238HP:0001334Communicating hydrocephalus1TNFRSF11A CL E G H8792612301Osteopetrosis autosomal recessive 7612301C2676766OMIM157211908603499
HP:0000238HP:0006882Severe hydrocephalus1TNFRSF11A CL E G H8792612301Osteopetrosis autosomal recessive 7612301C2676766OMIM157211908603499
HP:0000238HP:0002343Normal pressure hydrocephalus1TNFRSF11A CL E G H8792612301Osteopetrosis autosomal recessive 7612301C2676766OMIM157211908603499
HP:0000238HP:0006882Severe hydrocephalus1TNFSF11 CL E G H8600667ORPHA124611926602642
HP:0000238HP:0002343Normal pressure hydrocephalus1TNFSF11 CL E G H8600667ORPHA124611926602642
HP:0000238HP:0010953Noncommunicating hydrocephalus1TNFSF11 CL E G H8600667ORPHA124611926602642
HP:0000238HP:0001334Communicating hydrocephalus1TNFSF11 CL E G H8600667ORPHA124611926602642
HP:0000238HP:0002343Normal pressure hydrocephalus1TP53 CL E G H71572807ORPHA1297711998191170
HP:0000238HP:0010953Noncommunicating hydrocephalus1TP53 CL E G H71572807ORPHA1297711998191170
HP:0000238HP:0001334Communicating hydrocephalus1TP53 CL E G H71572807ORPHA1297711998191170
HP:0000238HP:0006882Severe hydrocephalus1TP53 CL E G H71572807ORPHA1297711998191170
HP:0000238HP:0006882Severe hydrocephalus1VANGL2 CL E G H57216182940Neural tube defect182940C0027794OMIM13815511600533
HP:0000238HP:0002343Normal pressure hydrocephalus1VANGL2 CL E G H57216182940Neural tube defect182940C0027794OMIM13815511600533
HP:0000238HP:0010953Noncommunicating hydrocephalus1VANGL2 CL E G H57216182940Neural tube defect182940C0027794OMIM13815511600533
HP:0000238HP:0001334Communicating hydrocephalus1VANGL2 CL E G H57216182940Neural tube defect182940C0027794OMIM13815511600533
HP:0000238HP:0006882Severe hydrocephalus1VHL CL E G H7428892Billet Bear syndromeORPHA1180512687608537
HP:0000238HP:0002343Normal pressure hydrocephalus1VHL CL E G H7428892Billet Bear syndromeORPHA1180512687608537
HP:0000238HP:0010953Noncommunicating hydrocephalus1VHL CL E G H7428892Billet Bear syndromeORPHA1180512687608537
HP:0000238HP:0001334Communicating hydrocephalus1VHL CL E G H7428892Billet Bear syndromeORPHA1180512687608537
HP:0000238HP:0006882Severe hydrocephalus1VSX1 CL E G H30813614195Craniofacial anomalies and anterior segment dysgenesis syndrome614195C3280099OMIM113012723605020
HP:0000238HP:0002343Normal pressure hydrocephalus1VSX1 CL E G H30813614195Craniofacial anomalies and anterior segment dysgenesis syndrome614195C3280099OMIM113012723605020
HP:0000238HP:0010953Noncommunicating hydrocephalus1VSX1 CL E G H30813614195Craniofacial anomalies and anterior segment dysgenesis syndrome614195C3280099OMIM113012723605020
HP:0000238HP:0001334Communicating hydrocephalus1VSX1 CL E G H30813614195Craniofacial anomalies and anterior segment dysgenesis syndrome614195C3280099OMIM113012723605020
HP:0000238HP:0001334Communicating hydrocephalus1WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM163828984610657
HP:0000238HP:0006882Severe hydrocephalus1WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM163828984610657
HP:0000238HP:0002343Normal pressure hydrocephalus1WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM163828984610657
HP:0000238HP:0010953Noncommunicating hydrocephalus1WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM163828984610657
HP:0000238HP:0010953Noncommunicating hydrocephalus1WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA163828984610657
HP:0000238HP:0001334Communicating hydrocephalus1WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA163828984610657
HP:0000238HP:0006882Severe hydrocephalus1WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA163828984610657
HP:0000238HP:0002343Normal pressure hydrocephalus1WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA163828984610657
HP:0000238HP:0001334Communicating hydrocephalus1WDR81 CL E G H124997617967HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES617967CN252328OMIM142026600614218
HP:0000238HP:0006882Severe hydrocephalus1WDR81 CL E G H124997617967HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES617967CN252328OMIM142026600614218
HP:0000238HP:0002343Normal pressure hydrocephalus1WDR81 CL E G H124997617967HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES617967CN252328OMIM142026600614218
HP:0000238HP:0010953Noncommunicating hydrocephalus1WDR81 CL E G H124997617967HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES617967CN252328OMIM142026600614218
HP:0000238HP:0006882Severe hydrocephalus1WNT3 CL E G H74733301Lowry syndromeORPHA110212782165330
HP:0000238HP:0002343Normal pressure hydrocephalus1WNT3 CL E G H74733301Lowry syndromeORPHA110212782165330
HP:0000238HP:0010953Noncommunicating hydrocephalus1WNT3 CL E G H74733301Lowry syndromeORPHA110212782165330
HP:0000238HP:0001334Communicating hydrocephalus1WNT3 CL E G H74733301Lowry syndromeORPHA110212782165330
HP:0000238HP:0002343Normal pressure hydrocephalus1WNT3 CL E G H7473273395Tetraamelia, autosomal recessive273395C4012268OMIM110212782165330
HP:0000238HP:0010953Noncommunicating hydrocephalus1WNT3 CL E G H7473273395Tetraamelia, autosomal recessive273395C4012268OMIM110212782165330
HP:0000238HP:0001334Communicating hydrocephalus1WNT3 CL E G H7473273395Tetraamelia, autosomal recessive273395C4012268OMIM110212782165330
HP:0000238HP:0006882Severe hydrocephalus1WNT3 CL E G H7473273395Tetraamelia, autosomal recessive273395C4012268OMIM110212782165330
HP:0000238HP:0006882Severe hydrocephalus1ZBTB20 CL E G H261373042ORPHA125213503606025
HP:0000238HP:0002343Normal pressure hydrocephalus1ZBTB20 CL E G H261373042ORPHA125213503606025
HP:0000238HP:0010953Noncommunicating hydrocephalus1ZBTB20 CL E G H261373042ORPHA125213503606025
HP:0000238HP:0001334Communicating hydrocephalus1ZBTB20 CL E G H261373042ORPHA125213503606025
HP:0000238HP:0002343Normal pressure hydrocephalus1ZIC2 CL E G H7546609637Holoprosencephaly 5609637C1864827OMIM136012873603073
HP:0000238HP:0010953Noncommunicating hydrocephalus1ZIC2 CL E G H7546609637Holoprosencephaly 5609637C1864827OMIM136012873603073
HP:0000238HP:0001334Communicating hydrocephalus1ZIC2 CL E G H7546609637Holoprosencephaly 5609637C1864827OMIM136012873603073
HP:0000238HP:0006882Severe hydrocephalus1ZIC2 CL E G H7546609637Holoprosencephaly 5609637C1864827OMIM136012873603073
HP:0000238HP:0002343Normal pressure hydrocephalus1ZIC3 CL E G H7547314390VACTERL association with hydrocephaly, X-linked314390C1839115OMIM130112874300265
HP:0000238HP:0010953Noncommunicating hydrocephalus1ZIC3 CL E G H7547314390VACTERL association with hydrocephaly, X-linked314390C1839115OMIM130112874300265
HP:0000238HP:0001334Communicating hydrocephalus1ZIC3 CL E G H7547314390VACTERL association with hydrocephaly, X-linked314390C1839115OMIM130112874300265
HP:0000238HP:0006882Severe hydrocephalus1ZIC3 CL E G H7547314390VACTERL association with hydrocephaly, X-linked314390C1839115OMIM130112874300265
HP:0000238HP:0001334Communicating hydrocephalus1ZNHIT3 CL E G H93262836ORPHA113612309604500
HP:0000238HP:0006882Severe hydrocephalus1ZNHIT3 CL E G H93262836ORPHA113612309604500
HP:0000238HP:0002343Normal pressure hydrocephalus1ZNHIT3 CL E G H93262836ORPHA113612309604500
HP:0000238HP:0010953Noncommunicating hydrocephalus1ZNHIT3 CL E G H93262836ORPHA113612309604500
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000238HP:0000238Hydrocephalus0AHI1 CL E G H54806220493ORPHA0119421575608894
HP:0000238HP:0000238Hydrocephalus0AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA0119421575608894
HP:0000238HP:0000238Hydrocephalus0ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM095030881300776
HP:0000238HP:0000238Hydrocephalus0AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM0241560300629
HP:0000238HP:0000238Hydrocephalus0ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA034025419608922
HP:0000238HP:0000238Hydrocephalus0ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA0137694604695
HP:0000238HP:0000238Hydrocephalus0ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA063120730617612
HP:0000238HP:0000238Hydrocephalus0ARVCF CL E G H421567ORPHA0620728602269
HP:0000238HP:0000238Hydrocephalus0B9D1 CL E G H27077564ORPHA031024123614144
HP:0000238HP:0000238Hydrocephalus0B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA031024123614144
HP:0000238HP:0000238Hydrocephalus0B9D2 CL E G H80776564ORPHA07328636611951
HP:0000238HP:0000238Hydrocephalus0BRAF CL E G H67354595ORPHA011821097164757
HP:0000238HP:0000238Hydrocephalus0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0000238HP:0000238Hydrocephalus0BRCA1 CL E G H67284ORPHA0139551100113705
HP:0000238HP:0000238Hydrocephalus0BRCA2 CL E G H67584ORPHA0175431101600185
HP:0000238HP:0000238Hydrocephalus0BRIP1 CL E G H8399084ORPHA0511020473605882
HP:0000238HP:0000238Hydrocephalus0CC2D2A CL E G H575452318ORPHA0152529253612013
HP:0000238HP:0000238Hydrocephalus0CC2D2A CL E G H57545564ORPHA0152529253612013
HP:0000238HP:0000238Hydrocephalus0CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA0152529253612013
HP:0000238HP:0000238Hydrocephalus0CC2D2A CL E G H57545612284Meckel syndrome type 6612284C2676790OMIM0152529253612013
HP:0000238HP:0000238Hydrocephalus0CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA050624866616690
HP:0000238HP:0000238Hydrocephalus0CEP120 CL E G H153241220493ORPHA043326690613446
HP:0000238HP:0000238Hydrocephalus0CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA043326690613446
HP:0000238HP:0000238Hydrocephalus0CEP290 CL E G H80184564ORPHA0294429021610142
HP:0000238HP:0000238Hydrocephalus0CEP290 CL E G H801842318ORPHA0294429021610142
HP:0000238HP:0000238Hydrocephalus0CEP290 CL E G H80184611134Meckel syndrome type 4611134C1970161OMIM0294429021610142
HP:0000238HP:0000238Hydrocephalus0CEP41 CL E G H95681220493ORPHA043512370610523
HP:0000238HP:0000238Hydrocephalus0CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA043512370610523
HP:0000238HP:0000238Hydrocephalus0CEP55 CL E G H55165564ORPHA0891161610000
HP:0000238HP:0000238Hydrocephalus0CEP83 CL E G H51134615862Nephronophthisis 18615862C3890591OMIM047517966615847
HP:0000238HP:0000238Hydrocephalus0CLCN7 CL E G H118653ORPHA010092025602727
HP:0000238HP:0000238Hydrocephalus0CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM02702063300138
HP:0000238HP:0000238Hydrocephalus0COMT CL E G H1312567ORPHA06102228116790
HP:0000238HP:0000238Hydrocephalus0COX7B CL E G H13492556ORPHA01812291300885
HP:0000238HP:0000238Hydrocephalus0CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA0198925801614571
HP:0000238HP:0000238Hydrocephalus0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM02062309605032
HP:0000238HP:0000238Hydrocephalus0CSPP1 CL E G H79848564ORPHA0107426193611654
HP:0000238HP:0000238Hydrocephalus0CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA0107426193611654
HP:0000238HP:0000238Hydrocephalus0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM03522494602618
HP:0000238HP:0000238Hydrocephalus0CTNNB1 CL E G H149954595ORPHA06242514116806
HP:0000238HP:0000238Hydrocephalus0CTSK CL E G H1513763ORPHA03022536601105
HP:0000238HP:0000238Hydrocephalus0DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM046319344617278
HP:0000238HP:0000238Hydrocephalus0DHCR24 CL E G H171835107ORPHA02912859606418
HP:0000238HP:0000238Hydrocephalus0DMPK CL E G H1760273ORPHA02732933605377
HP:0000238HP:0000238Hydrocephalus0ERCC4 CL E G H207284ORPHA07263436133520
HP:0000238HP:0000238Hydrocephalus0ERF CL E G H20773267ORPHA01783444611888
HP:0000238HP:0000238Hydrocephalus0ERF CL E G H2077207EchinococcosisORPHA01783444611888
HP:0000238HP:0000238Hydrocephalus0FAM20C CL E G H56975259775Raine syndrome259775C1850106OMIM046222140611061
HP:0000238HP:0000238Hydrocephalus0FANCA CL E G H217584ORPHA043963582607139
HP:0000238HP:0000238Hydrocephalus0FANCB CL E G H218784ORPHA06333583300515
HP:0000238HP:0000238Hydrocephalus0FANCC CL E G H217684ORPHA017433584613899
HP:0000238HP:0000238Hydrocephalus0FANCD2 CL E G H217784ORPHA012623585613984
HP:0000238HP:0000238Hydrocephalus0FANCE CL E G H217884ORPHA05273586613976
HP:0000238HP:0000238Hydrocephalus0FANCF CL E G H218884ORPHA04343587613897
HP:0000238HP:0000238Hydrocephalus0FANCG CL E G H218984ORPHA07903588602956
HP:0000238HP:0000238Hydrocephalus0FANCI CL E G H5521584ORPHA0150625568611360
HP:0000238HP:0000238Hydrocephalus0FANCL CL E G H5512084ORPHA054220748608111
HP:0000238HP:0000238Hydrocephalus0FANCL CL E G H55120614083Fanconi anemia, complementation group L614083C3469528OMIM054220748608111
HP:0000238HP:0000238Hydrocephalus0FANCM CL E G H5769784ORPHA0204523168609644
HP:0000238HP:0000238Hydrocephalus0FGFR2 CL E G H22631555ORPHA06853689176943
HP:0000238HP:0000238Hydrocephalus0FGFR2 CL E G H226387ORPHA06853689176943
HP:0000238HP:0000238Hydrocephalus0FGFR2 CL E G H2263207EchinococcosisORPHA06853689176943
HP:0000238HP:0000238Hydrocephalus0FGFR3 CL E G H226193274ORPHA09163690134934
HP:0000238HP:0000238Hydrocephalus0FGFR3 CL E G H226153271ORPHA09163690134934
HP:0000238HP:0000238Hydrocephalus0FGFR3 CL E G H22611860ORPHA09163690134934
HP:0000238HP:0000238Hydrocephalus0FGFR3 CL E G H2261100800Achondroplasia100800C0001080OMIM09163690134934
HP:0000238HP:0000238Hydrocephalus0FGFR3 CL E G H226115Antisocial personality disorderORPHA09163690134934
HP:0000238HP:0000238Hydrocephalus0FGFR3 CL E G H2261612247Crouzon syndrome with acanthosis nigricans612247C2677099OMIM09163690134934
HP:0000238HP:0000238Hydrocephalus0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM03963693605830
HP:0000238HP:0000238Hydrocephalus0FIG4 CL E G H98963472MeningococcemiaORPHA092616873609390
HP:0000238HP:0000238Hydrocephalus0GLI3 CL E G H2737380ORPHA09814319165240
HP:0000238HP:0000238Hydrocephalus0GLI3 CL E G H2737175700Greig cephalopolysyndactyly syndrome175700C0265306OMIM09814319165240
HP:0000238HP:0000238Hydrocephalus0GNAQ CL E G H27763205LBWD syndromeORPHA0914390600998
HP:0000238HP:0000238Hydrocephalus0GP1BB CL E G H2812567ORPHA04794440138720
HP:0000238HP:0000238Hydrocephalus0HCCS CL E G H30522556ORPHA02344837300056
HP:0000238HP:0000238Hydrocephalus0HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM011154867605109
HP:0000238HP:0000238Hydrocephalus0HIRA CL E G H7290567ORPHA04764916600237
HP:0000238HP:0000238Hydrocephalus0HNRNPU CL E G H3192238769ORPHA08825048602869
HP:0000238HP:0000238Hydrocephalus0HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA031426558610693
HP:0000238HP:0000238Hydrocephalus0IFT172 CL E G H26160615630Short-rib thoracic dysplasia 10 with or without polydactyly615630C3810175OMIM0135630391607386
HP:0000238HP:0000238Hydrocephalus0INPP5E CL E G H56623220493ORPHA078221474613037
HP:0000238HP:0000238Hydrocephalus0INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA078221474613037
HP:0000238HP:0000238Hydrocephalus0INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA078221474613037
HP:0000238HP:0000238Hydrocephalus0JMJD1C CL E G H221037567ORPHA0117812313604503
HP:0000238HP:0000238Hydrocephalus0KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA029068616650
HP:0000238HP:0000238Hydrocephalus0KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA0125319960610178
HP:0000238HP:0000238Hydrocephalus0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0000238HP:0000238Hydrocephalus0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM03676556604407
HP:0000238HP:0000238Hydrocephalus0LIG4 CL E G H3981235ORPHA06266601601837
HP:0000238HP:0000238Hydrocephalus0LMBR1 CL E G H643272378ORPHA042213243605522
HP:0000238HP:0000238Hydrocephalus0MAD2L2 CL E G H1045984ORPHA01216764604094
HP:0000238HP:0000238Hydrocephalus0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0000238HP:0000238Hydrocephalus0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0000238HP:0000238Hydrocephalus0MC1R CL E G H4157626ORPHA05096929155555
HP:0000238HP:0000238Hydrocephalus0MFN2 CL E G H992799947ORPHA0122216877608507
HP:0000238HP:0000238Hydrocephalus0MKS1 CL E G H54903220493ORPHA08397121609883
HP:0000238HP:0000238Hydrocephalus0MKS1 CL E G H54903564ORPHA08397121609883
HP:0000238HP:0000238Hydrocephalus0MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA08397121609883
HP:0000238HP:0000238Hydrocephalus0NDUFB11 CL E G H545392556ORPHA020920372300403
HP:0000238HP:0000238Hydrocephalus0NOTCH2 CL E G H4853955ORPHA011227882600275
HP:0000238HP:0000238Hydrocephalus0NPHP1 CL E G H4867220497ORPHA08157905607100
HP:0000238HP:0000238Hydrocephalus0NRAS CL E G H4893626ORPHA02817989164790
HP:0000238HP:0000238Hydrocephalus0NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM02817989164790
HP:0000238HP:0000238Hydrocephalus0NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM053812766602952
HP:0000238HP:0000238Hydrocephalus0NSUN2 CL E G H54888235ORPHA056625994610916
HP:0000238HP:0000238Hydrocephalus0PALB2 CL E G H7972884ORPHA0522526144610355
HP:0000238HP:0000238Hydrocephalus0PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA018023352607532
HP:0000238HP:0000238Hydrocephalus0PIEZO2 CL E G H638952461ORPHA097826270613629
HP:0000238HP:0000238Hydrocephalus0PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM030426031610274
HP:0000238HP:0000238Hydrocephalus0PLG CL E G H5340722ORPHA02979071173350
HP:0000238HP:0000238Hydrocephalus0PLG CL E G H534097231ORPHA02979071173350
HP:0000238HP:0000238Hydrocephalus0POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM030726267615247
HP:0000238HP:0000238Hydrocephalus0PTCH1 CL E G H5727377ORPHA044879585601309
HP:0000238HP:0000238Hydrocephalus0PTCH2 CL E G H8643377ORPHA07919586603673
HP:0000238HP:0000238Hydrocephalus0PTDSS1 CL E G H97912658ORPHA01909587612792
HP:0000238HP:0000238Hydrocephalus0RAD51 CL E G H588884ORPHA03589817179617
HP:0000238HP:0000238Hydrocephalus0RAD51C CL E G H588984ORPHA018279820602774
HP:0000238HP:0000238Hydrocephalus0RFWD3 CL E G H5515984ORPHA032625539614151
HP:0000238HP:0000238Hydrocephalus0ROGDI CL E G H796411946ORPHA056029478614574
HP:0000238HP:0000238Hydrocephalus0RPGRIP1 CL E G H57096564ORPHA0101013436605446
HP:0000238HP:0000238Hydrocephalus0RPGRIP1L CL E G H23322564ORPHA0149429168610937
HP:0000238HP:0000238Hydrocephalus0RPGRIP1L CL E G H23322220497ORPHA0149429168610937
HP:0000238HP:0000238Hydrocephalus0RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA0149429168610937
HP:0000238HP:0000238Hydrocephalus0RREB1 CL E G H6239567ORPHA029710449602209
HP:0000238HP:0000238Hydrocephalus0SAMD9 CL E G H54809617053Mirage syndrome617053C4284088OMIM07481348610456
HP:0000238HP:0000238Hydrocephalus0SEC24C CL E G H9632567ORPHA05810705607185
HP:0000238HP:0000238Hydrocephalus0SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM0106210896164780
HP:0000238HP:0000238Hydrocephalus0SLC13A5 CL E G H2841111946ORPHA068523089608305
HP:0000238HP:0000238Hydrocephalus0SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0000238HP:0000238Hydrocephalus0SLX4 CL E G H8446484ORPHA0196823845613278
HP:0000238HP:0000238Hydrocephalus0SMOC1 CL E G H640931106ORPHA012220318608488
HP:0000238HP:0000238Hydrocephalus0SOX2 CL E G H665777298ORPHA021111195184429
HP:0000238HP:0000238Hydrocephalus0SUFU CL E G H51684377ORPHA0130616466607035
HP:0000238HP:0000238Hydrocephalus0TBX1 CL E G H6899567ORPHA0116911592602054
HP:0000238HP:0000238Hydrocephalus0TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA039326113609863
HP:0000238HP:0000238Hydrocephalus0TCTN2 CL E G H79867564ORPHA062225774613846
HP:0000238HP:0000238Hydrocephalus0TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA062225774613846
HP:0000238HP:0000238Hydrocephalus0TGFBR1 CL E G H7046609192Loeys-Dietz syndrome 1609192C2697933OMIM088411772190181
HP:0000238HP:0000238Hydrocephalus0TGFBR2 CL E G H7048610168Loeys-Dietz syndrome 2610168C2674876OMIM094811773190182
HP:0000238HP:0000238Hydrocephalus0TMEM107 CL E G H84314564ORPHA029928128616183
HP:0000238HP:0000238Hydrocephalus0TMEM138 CL E G H515242318ORPHA016626944614459
HP:0000238HP:0000238Hydrocephalus0TMEM216 CL E G H512592318ORPHA023625018613277
HP:0000238HP:0000238Hydrocephalus0TMEM216 CL E G H51259564ORPHA023625018613277
HP:0000238HP:0000238Hydrocephalus0TMEM231 CL E G H795832318ORPHA046337234614949
HP:0000238HP:0000238Hydrocephalus0TMEM231 CL E G H79583564ORPHA046337234614949
HP:0000238HP:0000238Hydrocephalus0TMEM237 CL E G H65062220497ORPHA046614432614423
HP:0000238HP:0000238Hydrocephalus0TMEM237 CL E G H650622318ORPHA046614432614423
HP:0000238HP:0000238Hydrocephalus0TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA046614432614423
HP:0000238HP:0000238Hydrocephalus0TMEM67 CL E G H91147564ORPHA092828396609884
HP:0000238HP:0000238Hydrocephalus0TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA092828396609884
HP:0000238HP:0000238Hydrocephalus0TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA092828396609884
HP:0000238HP:0000238Hydrocephalus0TMEM67 CL E G H91147607361Meckel syndrome type 3607361C1846357OMIM092828396609884
HP:0000238HP:0000238Hydrocephalus0TREM2 CL E G H542092770ORPHA015417761605086
HP:0000238HP:0000238Hydrocephalus0TRPV4 CL E G H593412635ORPHA0101818083605427
HP:0000238HP:0000238Hydrocephalus0TSC1 CL E G H7248538ORPHA0417212362605284
HP:0000238HP:0000238Hydrocephalus0TSC2 CL E G H7249538ORPHA0963812363191092
HP:0000238HP:0000238Hydrocephalus0TYROBP CL E G H73052770ORPHA011012449604142
HP:0000238HP:0000238Hydrocephalus0UBE2T CL E G H2908984ORPHA04525009610538
HP:0000238HP:0000238Hydrocephalus0UFD1 CL E G H7353567ORPHA041512520601754
HP:0000238HP:0000238Hydrocephalus0VAC14 CL E G H556973472MeningococcemiaORPHA036725507604632
HP:0000238HP:0000238Hydrocephalus0WDPCP CL E G H51057564ORPHA058728027613580
HP:0000238HP:0000238Hydrocephalus0WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM0127640
HP:0000238HP:0000238Hydrocephalus0XRCC2 CL E G H751684ORPHA069712829600375
HP:0000238HP:0000238Hydrocephalus0ZNF423 CL E G H230902318ORPHA081016762604557
HP:0000238HP:0001334Communicating hydrocephalus1AHI1 CL E G H54806220493ORPHA0119421575608894
HP:0000238HP:0006882Severe hydrocephalus1AHI1 CL E G H54806220493ORPHA0119421575608894
HP:0000238HP:0002343Normal pressure hydrocephalus1AHI1 CL E G H54806220493ORPHA0119421575608894
HP:0000238HP:0010953Noncommunicating hydrocephalus1AHI1 CL E G H54806220493ORPHA0119421575608894
HP:0000238HP:0001334Communicating hydrocephalus1AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA0119421575608894
HP:0000238HP:0006882Severe hydrocephalus1AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA0119421575608894
HP:0000238HP:0002343Normal pressure hydrocephalus1AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA0119421575608894
HP:0000238HP:0010953Noncommunicating hydrocephalus1AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA0119421575608894
HP:0000238HP:0010953Noncommunicating hydrocephalus1ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM095030881300776
HP:0000238HP:0001334Communicating hydrocephalus1ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM095030881300776
HP:0000238HP:0006882Severe hydrocephalus1ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM095030881300776
HP:0000238HP:0002343Normal pressure hydrocephalus1ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM095030881300776
HP:0000238HP:0006882Severe hydrocephalus1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM0241560300629
HP:0000238HP:0002343Normal pressure hydrocephalus1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM0241560300629
HP:0000238HP:0010953Noncommunicating hydrocephalus1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM0241560300629
HP:0000238HP:0001334Communicating hydrocephalus1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM0241560300629
HP:0000238HP:0002343Normal pressure hydrocephalus1ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA034025419608922
HP:0000238HP:0010953Noncommunicating hydrocephalus1ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA034025419608922
HP:0000238HP:0006882Severe hydrocephalus1ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA034025419608922
HP:0000238HP:0001334Communicating hydrocephalus1ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA034025419608922
HP:0000238HP:0010953Noncommunicating hydrocephalus1ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA0137694604695
HP:0000238HP:0001334Communicating hydrocephalus1ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA0137694604695
HP:0000238HP:0006882Severe hydrocephalus1ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA0137694604695
HP:0000238HP:0002343Normal pressure hydrocephalus1ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA0137694604695
HP:0000238HP:0001334Communicating hydrocephalus1ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA063120730617612
HP:0000238HP:0006882Severe hydrocephalus1ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA063120730617612
HP:0000238HP:0002343Normal pressure hydrocephalus1ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA063120730617612
HP:0000238HP:0010953Noncommunicating hydrocephalus1ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA063120730617612
HP:0000238HP:0002343Normal pressure hydrocephalus1ARVCF CL E G H421567ORPHA0620728602269
HP:0000238HP:0010953Noncommunicating hydrocephalus1ARVCF CL E G H421567ORPHA0620728602269
HP:0000238HP:0001334Communicating hydrocephalus1ARVCF CL E G H421567ORPHA0620728602269
HP:0000238HP:0006882Severe hydrocephalus1ARVCF CL E G H421567ORPHA0620728602269
HP:0000238HP:0010953Noncommunicating hydrocephalus1B9D1 CL E G H27077564ORPHA031024123614144
HP:0000238HP:0001334Communicating hydrocephalus1B9D1 CL E G H27077564ORPHA031024123614144
HP:0000238HP:0006882Severe hydrocephalus1B9D1 CL E G H27077564ORPHA031024123614144
HP:0000238HP:0002343Normal pressure hydrocephalus1B9D1 CL E G H27077564ORPHA031024123614144
HP:0000238HP:0006882Severe hydrocephalus1B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA031024123614144
HP:0000238HP:0002343Normal pressure hydrocephalus1B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA031024123614144
HP:0000238HP:0010953Noncommunicating hydrocephalus1B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA031024123614144
HP:0000238HP:0001334Communicating hydrocephalus1B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA031024123614144
HP:0000238HP:0001334Communicating hydrocephalus1B9D2 CL E G H80776564ORPHA07328636611951
HP:0000238HP:0006882Severe hydrocephalus1B9D2 CL E G H80776564ORPHA07328636611951
HP:0000238HP:0002343Normal pressure hydrocephalus1B9D2 CL E G H80776564ORPHA07328636611951
HP:0000238HP:0010953Noncommunicating hydrocephalus1B9D2 CL E G H80776564ORPHA07328636611951
HP:0000238HP:0010953Noncommunicating hydrocephalus1BRAF CL E G H67354595ORPHA011821097164757
HP:0000238HP:0001334Communicating hydrocephalus1BRAF CL E G H67354595ORPHA011821097164757
HP:0000238HP:0006882Severe hydrocephalus1BRAF CL E G H67354595ORPHA011821097164757
HP:0000238HP:0002343Normal pressure hydrocephalus1BRAF CL E G H67354595ORPHA011821097164757
HP:0000238HP:0001334Communicating hydrocephalus1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0000238HP:0006882Severe hydrocephalus1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0000238HP:0002343Normal pressure hydrocephalus1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0000238HP:0010953Noncommunicating hydrocephalus1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0000238HP:0010953Noncommunicating hydrocephalus1BRCA1 CL E G H67284ORPHA0139551100113705
HP:0000238HP:0001334Communicating hydrocephalus1BRCA1 CL E G H67284ORPHA0139551100113705
HP:0000238HP:0006882Severe hydrocephalus1BRCA1 CL E G H67284ORPHA0139551100113705
HP:0000238HP:0002343Normal pressure hydrocephalus1BRCA1 CL E G H67284ORPHA0139551100113705
HP:0000238HP:0001334Communicating hydrocephalus1BRCA2 CL E G H67584ORPHA0175431101600185
HP:0000238HP:0006882Severe hydrocephalus1BRCA2 CL E G H67584ORPHA0175431101600185
HP:0000238HP:0002343Normal pressure hydrocephalus1BRCA2 CL E G H67584ORPHA0175431101600185
HP:0000238HP:0010953Noncommunicating hydrocephalus1BRCA2 CL E G H67584ORPHA0175431101600185
HP:0000238HP:0006882Severe hydrocephalus1BRIP1 CL E G H8399084ORPHA0511020473605882
HP:0000238HP:0002343Normal pressure hydrocephalus1BRIP1 CL E G H8399084ORPHA0511020473605882
HP:0000238HP:0010953Noncommunicating hydrocephalus1BRIP1 CL E G H8399084ORPHA0511020473605882
HP:0000238HP:0001334Communicating hydrocephalus1BRIP1 CL E G H8399084ORPHA0511020473605882
HP:0000238HP:0001334Communicating hydrocephalus1CC2D2A CL E G H575452318ORPHA0152529253612013
HP:0000238HP:0006882Severe hydrocephalus1CC2D2A CL E G H57545564ORPHA0152529253612013
HP:0000238HP:0006882Severe hydrocephalus1CC2D2A CL E G H575452318ORPHA0152529253612013
HP:0000238HP:0002343Normal pressure hydrocephalus1CC2D2A CL E G H57545564ORPHA0152529253612013
HP:0000238HP:0002343Normal pressure hydrocephalus1CC2D2A CL E G H575452318ORPHA0152529253612013
HP:0000238HP:0010953Noncommunicating hydrocephalus1CC2D2A CL E G H57545564ORPHA0152529253612013
HP:0000238HP:0010953Noncommunicating hydrocephalus1CC2D2A CL E G H575452318ORPHA0152529253612013
HP:0000238HP:0001334Communicating hydrocephalus1CC2D2A CL E G H57545564ORPHA0152529253612013
HP:0000238HP:0001334Communicating hydrocephalus1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA0152529253612013
HP:0000238HP:0006882Severe hydrocephalus1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA0152529253612013
HP:0000238HP:0002343Normal pressure hydrocephalus1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA0152529253612013
HP:0000238HP:0010953Noncommunicating hydrocephalus1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA0152529253612013
HP:0000238HP:0006882Severe hydrocephalus1CC2D2A CL E G H57545612284Meckel syndrome type 6612284C2676790OMIM0152529253612013
HP:0000238HP:0002343Normal pressure hydrocephalus1CC2D2A CL E G H57545612284Meckel syndrome type 6612284C2676790OMIM0152529253612013
HP:0000238HP:0010953Noncommunicating hydrocephalus1CC2D2A CL E G H57545612284Meckel syndrome type 6612284C2676790OMIM0152529253612013
HP:0000238HP:0001334Communicating hydrocephalus1CC2D2A CL E G H57545612284Meckel syndrome type 6612284C2676790OMIM0152529253612013
HP:0000238HP:0002343Normal pressure hydrocephalus1CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA050624866616690
HP:0000238HP:0010953Noncommunicating hydrocephalus1CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA050624866616690
HP:0000238HP:0001334Communicating hydrocephalus1CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA050624866616690
HP:0000238HP:0006882Severe hydrocephalus1CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA050624866616690
HP:0000238HP:0006882Severe hydrocephalus1CEP120 CL E G H153241220493ORPHA043326690613446
HP:0000238HP:0002343Normal pressure hydrocephalus1CEP120 CL E G H153241220493ORPHA043326690613446
HP:0000238HP:0010953Noncommunicating hydrocephalus1CEP120 CL E G H153241220493ORPHA043326690613446
HP:0000238HP:0001334Communicating hydrocephalus1CEP120 CL E G H153241220493ORPHA043326690613446
HP:0000238HP:0010953Noncommunicating hydrocephalus1CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA043326690613446
HP:0000238HP:0001334Communicating hydrocephalus1CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA043326690613446
HP:0000238HP:0006882Severe hydrocephalus1CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA043326690613446
HP:0000238HP:0002343Normal pressure hydrocephalus1CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA043326690613446
HP:0000238HP:0006882Severe hydrocephalus1CEP290 CL E G H801842318ORPHA0294429021610142
HP:0000238HP:0002343Normal pressure hydrocephalus1CEP290 CL E G H80184564ORPHA0294429021610142
HP:0000238HP:0002343Normal pressure hydrocephalus1CEP290 CL E G H801842318ORPHA0294429021610142
HP:0000238HP:0010953Noncommunicating hydrocephalus1CEP290 CL E G H80184564ORPHA0294429021610142
HP:0000238HP:0010953Noncommunicating hydrocephalus1CEP290 CL E G H801842318ORPHA0294429021610142
HP:0000238HP:0001334Communicating hydrocephalus1CEP290 CL E G H80184564ORPHA0294429021610142
HP:0000238HP:0001334Communicating hydrocephalus1CEP290 CL E G H801842318ORPHA0294429021610142
HP:0000238HP:0006882Severe hydrocephalus1CEP290 CL E G H80184564ORPHA0294429021610142
HP:0000238HP:0010953Noncommunicating hydrocephalus1CEP290 CL E G H80184611134Meckel syndrome type 4611134C1970161OMIM0294429021610142
HP:0000238HP:0001334Communicating hydrocephalus1CEP290 CL E G H80184611134Meckel syndrome type 4611134C1970161OMIM0294429021610142
HP:0000238HP:0006882Severe hydrocephalus1CEP290 CL E G H80184611134Meckel syndrome type 4611134C1970161OMIM0294429021610142
HP:0000238HP:0002343Normal pressure hydrocephalus1CEP290 CL E G H80184611134Meckel syndrome type 4611134C1970161OMIM0294429021610142
HP:0000238HP:0002343Normal pressure hydrocephalus1CEP41 CL E G H95681220493ORPHA043512370610523
HP:0000238HP:0010953Noncommunicating hydrocephalus1CEP41 CL E G H95681220493ORPHA043512370610523
HP:0000238HP:0001334Communicating hydrocephalus1CEP41 CL E G H95681220493ORPHA043512370610523
HP:0000238HP:0006882Severe hydrocephalus1CEP41 CL E G H95681220493ORPHA043512370610523
HP:0000238HP:0001334Communicating hydrocephalus1CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA043512370610523
HP:0000238HP:0006882Severe hydrocephalus1CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA043512370610523
HP:0000238HP:0002343Normal pressure hydrocephalus1CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA043512370610523
HP:0000238HP:0010953Noncommunicating hydrocephalus1CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA043512370610523
HP:0000238HP:0010953Noncommunicating hydrocephalus1CEP55 CL E G H55165564ORPHA0891161610000
HP:0000238HP:0001334Communicating hydrocephalus1CEP55 CL E G H55165564ORPHA0891161610000
HP:0000238HP:0006882Severe hydrocephalus1CEP55 CL E G H55165564ORPHA0891161610000
HP:0000238HP:0002343Normal pressure hydrocephalus1CEP55 CL E G H55165564ORPHA0891161610000
HP:0000238HP:0010953Noncommunicating hydrocephalus1CEP83 CL E G H51134615862Nephronophthisis 18615862C3890591OMIM047517966615847
HP:0000238HP:0001334Communicating hydrocephalus1CEP83 CL E G H51134615862Nephronophthisis 18615862C3890591OMIM047517966615847
HP:0000238HP:0006882Severe hydrocephalus1CEP83 CL E G H51134615862Nephronophthisis 18615862C3890591OMIM047517966615847
HP:0000238HP:0002343Normal pressure hydrocephalus1CEP83 CL E G H51134615862Nephronophthisis 18615862C3890591OMIM047517966615847
HP:0000238HP:0002343Normal pressure hydrocephalus1CLCN7 CL E G H118653ORPHA010092025602727
HP:0000238HP:0010953Noncommunicating hydrocephalus1CLCN7 CL E G H118653ORPHA010092025602727
HP:0000238HP:0001334Communicating hydrocephalus1CLCN7 CL E G H118653ORPHA010092025602727
HP:0000238HP:0006882Severe hydrocephalus1CLCN7 CL E G H118653ORPHA010092025602727
HP:0000238HP:0001334Communicating hydrocephalus1CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM02702063300138
HP:0000238HP:0006882Severe hydrocephalus1CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM02702063300138
HP:0000238HP:0002343Normal pressure hydrocephalus1CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM02702063300138
HP:0000238HP:0010953Noncommunicating hydrocephalus1CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM02702063300138
HP:0000238HP:0010953Noncommunicating hydrocephalus1COMT CL E G H1312567ORPHA06102228116790
HP:0000238HP:0001334Communicating hydrocephalus1COMT CL E G H1312567ORPHA06102228116790
HP:0000238HP:0006882Severe hydrocephalus1COMT CL E G H1312567ORPHA06102228116790
HP:0000238HP:0002343Normal pressure hydrocephalus1COMT CL E G H1312567ORPHA06102228116790
HP:0000238HP:0006882Severe hydrocephalus1COX7B CL E G H13492556ORPHA01812291300885
HP:0000238HP:0002343Normal pressure hydrocephalus1COX7B CL E G H13492556ORPHA01812291300885
HP:0000238HP:0010953Noncommunicating hydrocephalus1COX7B CL E G H13492556ORPHA01812291300885
HP:0000238HP:0001334Communicating hydrocephalus1COX7B CL E G H13492556ORPHA01812291300885
HP:0000238HP:0006882Severe hydrocephalus1CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA0198925801614571
HP:0000238HP:0002343Normal pressure hydrocephalus1CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA0198925801614571
HP:0000238HP:0010953Noncommunicating hydrocephalus1CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA0198925801614571
HP:0000238HP:0001334Communicating hydrocephalus1CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA0198925801614571
HP:0000238HP:0010953Noncommunicating hydrocephalus1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM02062309605032
HP:0000238HP:0001334Communicating hydrocephalus1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM02062309605032
HP:0000238HP:0006882Severe hydrocephalus1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM02062309605032
HP:0000238HP:0002343Normal pressure hydrocephalus1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM02062309605032
HP:0000238HP:0001334Communicating hydrocephalus1CSPP1 CL E G H79848564ORPHA0107426193611654
HP:0000238HP:0006882Severe hydrocephalus1CSPP1 CL E G H79848564ORPHA0107426193611654
HP:0000238HP:0002343Normal pressure hydrocephalus1CSPP1 CL E G H79848564ORPHA0107426193611654
HP:0000238HP:0010953Noncommunicating hydrocephalus1CSPP1 CL E G H79848564ORPHA0107426193611654
HP:0000238HP:0002343Normal pressure hydrocephalus1CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA0107426193611654
HP:0000238HP:0010953Noncommunicating hydrocephalus1CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA0107426193611654
HP:0000238HP:0001334Communicating hydrocephalus1CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA0107426193611654
HP:0000238HP:0006882Severe hydrocephalus1CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA0107426193611654
HP:0000238HP:0001334Communicating hydrocephalus1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM03522494602618
HP:0000238HP:0006882Severe hydrocephalus1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM03522494602618
HP:0000238HP:0002343Normal pressure hydrocephalus1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM03522494602618
HP:0000238HP:0010953Noncommunicating hydrocephalus1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM03522494602618
HP:0000238HP:0001334Communicating hydrocephalus1CTNNB1 CL E G H149954595ORPHA06242514116806
HP:0000238HP:0006882Severe hydrocephalus1CTNNB1 CL E G H149954595ORPHA06242514116806
HP:0000238HP:0002343Normal pressure hydrocephalus1CTNNB1 CL E G H149954595ORPHA06242514116806
HP:0000238HP:0010953Noncommunicating hydrocephalus1CTNNB1 CL E G H149954595ORPHA06242514116806
HP:0000238HP:0001334Communicating hydrocephalus1CTSK CL E G H1513763ORPHA03022536601105
HP:0000238HP:0006882Severe hydrocephalus1CTSK CL E G H1513763ORPHA03022536601105
HP:0000238HP:0002343Normal pressure hydrocephalus1CTSK CL E G H1513763ORPHA03022536601105
HP:0000238HP:0010953Noncommunicating hydrocephalus1CTSK CL E G H1513763ORPHA03022536601105
HP:0000238HP:0006882Severe hydrocephalus1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM046319344617278
HP:0000238HP:0002343Normal pressure hydrocephalus1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM046319344617278
HP:0000238HP:0010953Noncommunicating hydrocephalus1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM046319344617278
HP:0000238HP:0001334Communicating hydrocephalus1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM046319344617278
HP:0000238HP:0006882Severe hydrocephalus1DHCR24 CL E G H171835107ORPHA02912859606418
HP:0000238HP:0002343Normal pressure hydrocephalus1DHCR24 CL E G H171835107ORPHA02912859606418
HP:0000238HP:0010953Noncommunicating hydrocephalus1DHCR24 CL E G H171835107ORPHA02912859606418
HP:0000238HP:0001334Communicating hydrocephalus1DHCR24 CL E G H171835107ORPHA02912859606418
HP:0000238HP:0010953Noncommunicating hydrocephalus1DMPK CL E G H1760273ORPHA02732933605377
HP:0000238HP:0001334Communicating hydrocephalus1DMPK CL E G H1760273ORPHA02732933605377
HP:0000238HP:0006882Severe hydrocephalus1DMPK CL E G H1760273ORPHA02732933605377
HP:0000238HP:0002343Normal pressure hydrocephalus1DMPK CL E G H1760273ORPHA02732933605377
HP:0000238HP:0002343Normal pressure hydrocephalus1ERCC4 CL E G H207284ORPHA07263436133520
HP:0000238HP:0010953Noncommunicating hydrocephalus1ERCC4 CL E G H207284ORPHA07263436133520
HP:0000238HP:0001334Communicating hydrocephalus1ERCC4 CL E G H207284ORPHA07263436133520
HP:0000238HP:0006882Severe hydrocephalus1ERCC4 CL E G H207284ORPHA07263436133520
HP:0000238HP:0010953Noncommunicating hydrocephalus1ERF CL E G H20773267ORPHA01783444611888
HP:0000238HP:0001334Communicating hydrocephalus1ERF CL E G H20773267ORPHA01783444611888
HP:0000238HP:0006882Severe hydrocephalus1ERF CL E G H20773267ORPHA01783444611888
HP:0000238HP:0002343Normal pressure hydrocephalus1ERF CL E G H20773267ORPHA01783444611888
HP:0000238HP:0002343Normal pressure hydrocephalus1ERF CL E G H2077207EchinococcosisORPHA01783444611888
HP:0000238HP:0010953Noncommunicating hydrocephalus1ERF CL E G H2077207EchinococcosisORPHA01783444611888
HP:0000238HP:0001334Communicating hydrocephalus1ERF CL E G H2077207EchinococcosisORPHA01783444611888
HP:0000238HP:0006882Severe hydrocephalus1ERF CL E G H2077207EchinococcosisORPHA01783444611888
HP:0000238HP:0010953Noncommunicating hydrocephalus1FAM20C CL E G H56975259775Raine syndrome259775C1850106OMIM046222140611061
HP:0000238HP:0001334Communicating hydrocephalus1FAM20C CL E G H56975259775Raine syndrome259775C1850106OMIM046222140611061
HP:0000238HP:0006882Severe hydrocephalus1FAM20C CL E G H56975259775Raine syndrome259775C1850106OMIM046222140611061
HP:0000238HP:0002343Normal pressure hydrocephalus1FAM20C CL E G H56975259775Raine syndrome259775C1850106OMIM046222140611061
HP:0000238HP:0010953Noncommunicating hydrocephalus1FANCA CL E G H217584ORPHA043963582607139
HP:0000238HP:0001334Communicating hydrocephalus1FANCA CL E G H217584ORPHA043963582607139
HP:0000238HP:0006882Severe hydrocephalus1FANCA CL E G H217584ORPHA043963582607139
HP:0000238HP:0002343Normal pressure hydrocephalus1FANCA CL E G H217584ORPHA043963582607139
HP:0000238HP:0001334Communicating hydrocephalus1FANCB CL E G H218784ORPHA06333583300515
HP:0000238HP:0006882Severe hydrocephalus1FANCB CL E G H218784ORPHA06333583300515
HP:0000238HP:0002343Normal pressure hydrocephalus1FANCB CL E G H218784ORPHA06333583300515
HP:0000238HP:0010953Noncommunicating hydrocephalus1FANCB CL E G H218784ORPHA06333583300515
HP:0000238HP:0006882Severe hydrocephalus1FANCC CL E G H217684ORPHA017433584613899
HP:0000238HP:0002343Normal pressure hydrocephalus1FANCC CL E G H217684ORPHA017433584613899
HP:0000238HP:0010953Noncommunicating hydrocephalus1FANCC CL E G H217684ORPHA017433584613899
HP:0000238HP:0001334Communicating hydrocephalus1FANCC CL E G H217684ORPHA017433584613899
HP:0000238HP:0002343Normal pressure hydrocephalus1FANCD2 CL E G H217784ORPHA012623585613984
HP:0000238HP:0010953Noncommunicating hydrocephalus1FANCD2 CL E G H217784ORPHA012623585613984
HP:0000238HP:0001334Communicating hydrocephalus1FANCD2 CL E G H217784ORPHA012623585613984
HP:0000238HP:0006882Severe hydrocephalus1FANCD2 CL E G H217784ORPHA012623585613984
HP:0000238HP:0010953Noncommunicating hydrocephalus1FANCE CL E G H217884ORPHA05273586613976
HP:0000238HP:0001334Communicating hydrocephalus1FANCE CL E G H217884ORPHA05273586613976
HP:0000238HP:0006882Severe hydrocephalus1FANCE CL E G H217884ORPHA05273586613976
HP:0000238HP:0002343Normal pressure hydrocephalus1FANCE CL E G H217884ORPHA05273586613976
HP:0000238HP:0001334Communicating hydrocephalus1FANCF CL E G H218884ORPHA04343587613897
HP:0000238HP:0006882Severe hydrocephalus1FANCF CL E G H218884ORPHA04343587613897
HP:0000238HP:0002343Normal pressure hydrocephalus1FANCF CL E G H218884ORPHA04343587613897
HP:0000238HP:0010953Noncommunicating hydrocephalus1FANCF CL E G H218884ORPHA04343587613897
HP:0000238HP:0006882Severe hydrocephalus1FANCG CL E G H218984ORPHA07903588602956
HP:0000238HP:0002343Normal pressure hydrocephalus1FANCG CL E G H218984ORPHA07903588602956
HP:0000238HP:0010953Noncommunicating hydrocephalus1FANCG CL E G H218984ORPHA07903588602956
HP:0000238HP:0001334Communicating hydrocephalus1FANCG CL E G H218984ORPHA07903588602956
HP:0000238HP:0002343Normal pressure hydrocephalus1FANCI CL E G H5521584ORPHA0150625568611360
HP:0000238HP:0010953Noncommunicating hydrocephalus1FANCI CL E G H5521584ORPHA0150625568611360
HP:0000238HP:0001334Communicating hydrocephalus1FANCI CL E G H5521584ORPHA0150625568611360
HP:0000238HP:0006882Severe hydrocephalus1FANCI CL E G H5521584ORPHA0150625568611360
HP:0000238HP:0010953Noncommunicating hydrocephalus1FANCL CL E G H5512084ORPHA054220748608111
HP:0000238HP:0001334Communicating hydrocephalus1FANCL CL E G H5512084ORPHA054220748608111
HP:0000238HP:0006882Severe hydrocephalus1FANCL CL E G H5512084ORPHA054220748608111
HP:0000238HP:0002343Normal pressure hydrocephalus1FANCL CL E G H5512084ORPHA054220748608111
HP:0000238HP:0010953Noncommunicating hydrocephalus1FANCL CL E G H55120614083Fanconi anemia, complementation group L614083C3469528OMIM054220748608111
HP:0000238HP:0001334Communicating hydrocephalus1FANCL CL E G H55120614083Fanconi anemia, complementation group L614083C3469528OMIM054220748608111
HP:0000238HP:0006882Severe hydrocephalus1FANCL CL E G H55120614083Fanconi anemia, complementation group L614083C3469528OMIM054220748608111
HP:0000238HP:0002343Normal pressure hydrocephalus1FANCL CL E G H55120614083Fanconi anemia, complementation group L614083C3469528OMIM054220748608111
HP:0000238HP:0001334Communicating hydrocephalus1FANCM CL E G H5769784ORPHA0204523168609644
HP:0000238HP:0006882Severe hydrocephalus1FANCM CL E G H5769784ORPHA0204523168609644
HP:0000238HP:0002343Normal pressure hydrocephalus1FANCM CL E G H5769784ORPHA0204523168609644
HP:0000238HP:0010953Noncommunicating hydrocephalus1FANCM CL E G H5769784ORPHA0204523168609644
HP:0000238HP:0001334Communicating hydrocephalus1FGFR2 CL E G H22631555ORPHA06853689176943
HP:0000238HP:0006882Severe hydrocephalus1FGFR2 CL E G H226387ORPHA06853689176943
HP:0000238HP:0006882Severe hydrocephalus1FGFR2 CL E G H22631555ORPHA06853689176943
HP:0000238HP:0002343Normal pressure hydrocephalus1FGFR2 CL E G H226387ORPHA06853689176943
HP:0000238HP:0002343Normal pressure hydrocephalus1FGFR2 CL E G H22631555ORPHA06853689176943
HP:0000238HP:0010953Noncommunicating hydrocephalus1FGFR2 CL E G H226387ORPHA06853689176943
HP:0000238HP:0010953Noncommunicating hydrocephalus1FGFR2 CL E G H22631555ORPHA06853689176943
HP:0000238HP:0001334Communicating hydrocephalus1FGFR2 CL E G H226387ORPHA06853689176943
HP:0000238HP:0010953Noncommunicating hydrocephalus1FGFR2 CL E G H2263207EchinococcosisORPHA06853689176943
HP:0000238HP:0001334Communicating hydrocephalus1FGFR2 CL E G H2263207EchinococcosisORPHA06853689176943
HP:0000238HP:0006882Severe hydrocephalus1FGFR2 CL E G H2263207EchinococcosisORPHA06853689176943
HP:0000238HP:0002343Normal pressure hydrocephalus1FGFR2 CL E G H2263207EchinococcosisORPHA06853689176943
HP:0000238HP:0010953Noncommunicating hydrocephalus1FGFR3 CL E G H226193274ORPHA09163690134934
HP:0000238HP:0002343Normal pressure hydrocephalus1FGFR3 CL E G H226153271ORPHA09163690134934
HP:0000238HP:0006882Severe hydrocephalus1FGFR3 CL E G H22611860ORPHA09163690134934
HP:0000238HP:0001334Communicating hydrocephalus1FGFR3 CL E G H226193274ORPHA09163690134934
HP:0000238HP:0010953Noncommunicating hydrocephalus1FGFR3 CL E G H226153271ORPHA09163690134934
HP:0000238HP:0002343Normal pressure hydrocephalus1FGFR3 CL E G H22611860ORPHA09163690134934
HP:0000238HP:0006882Severe hydrocephalus1FGFR3 CL E G H226193274ORPHA09163690134934
HP:0000238HP:0001334Communicating hydrocephalus1FGFR3 CL E G H226153271ORPHA09163690134934
HP:0000238HP:0010953Noncommunicating hydrocephalus1FGFR3 CL E G H22611860ORPHA09163690134934
HP:0000238HP:0002343Normal pressure hydrocephalus1FGFR3 CL E G H226193274ORPHA09163690134934
HP:0000238HP:0001334Communicating hydrocephalus1FGFR3 CL E G H22611860ORPHA09163690134934
HP:0000238HP:0006882Severe hydrocephalus1FGFR3 CL E G H226153271ORPHA09163690134934
HP:0000238HP:0010953Noncommunicating hydrocephalus1FGFR3 CL E G H2261100800Achondroplasia100800C0001080OMIM09163690134934
HP:0000238HP:0001334Communicating hydrocephalus1FGFR3 CL E G H2261100800Achondroplasia100800C0001080OMIM09163690134934
HP:0000238HP:0006882Severe hydrocephalus1FGFR3 CL E G H2261100800Achondroplasia100800C0001080OMIM09163690134934
HP:0000238HP:0002343Normal pressure hydrocephalus1FGFR3 CL E G H2261100800Achondroplasia100800C0001080OMIM09163690134934
HP:0000238HP:0001334Communicating hydrocephalus1FGFR3 CL E G H226115Antisocial personality disorderORPHA09163690134934
HP:0000238HP:0006882Severe hydrocephalus1FGFR3 CL E G H226115Antisocial personality disorderORPHA09163690134934
HP:0000238HP:0002343Normal pressure hydrocephalus1FGFR3 CL E G H226115Antisocial personality disorderORPHA09163690134934
HP:0000238HP:0010953Noncommunicating hydrocephalus1FGFR3 CL E G H226115Antisocial personality disorderORPHA09163690134934
HP:0000238HP:0001334Communicating hydrocephalus1FGFR3 CL E G H2261612247Crouzon syndrome with acanthosis nigricans612247C2677099OMIM09163690134934
HP:0000238HP:0006882Severe hydrocephalus1FGFR3 CL E G H2261612247Crouzon syndrome with acanthosis nigricans612247C2677099OMIM09163690134934
HP:0000238HP:0002343Normal pressure hydrocephalus1FGFR3 CL E G H2261612247Crouzon syndrome with acanthosis nigricans612247C2677099OMIM09163690134934
HP:0000238HP:0010953Noncommunicating hydrocephalus1FGFR3 CL E G H2261612247Crouzon syndrome with acanthosis nigricans612247C2677099OMIM09163690134934
HP:0000238HP:0006882Severe hydrocephalus1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM03963693605830
HP:0000238HP:0002343Normal pressure hydrocephalus1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM03963693605830
HP:0000238HP:0010953Noncommunicating hydrocephalus1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM03963693605830
HP:0000238HP:0001334Communicating hydrocephalus1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM03963693605830
HP:0000238HP:0010953Noncommunicating hydrocephalus1FIG4 CL E G H98963472MeningococcemiaORPHA092616873609390
HP:0000238HP:0001334Communicating hydrocephalus1FIG4 CL E G H98963472MeningococcemiaORPHA092616873609390
HP:0000238HP:0006882Severe hydrocephalus1FIG4 CL E G H98963472MeningococcemiaORPHA092616873609390
HP:0000238HP:0002343Normal pressure hydrocephalus1FIG4 CL E G H98963472MeningococcemiaORPHA092616873609390
HP:0000238HP:0010953Noncommunicating hydrocephalus1GLI3 CL E G H2737380ORPHA09814319165240
HP:0000238HP:0001334Communicating hydrocephalus1GLI3 CL E G H2737380ORPHA09814319165240
HP:0000238HP:0006882Severe hydrocephalus1GLI3 CL E G H2737380ORPHA09814319165240
HP:0000238HP:0002343Normal pressure hydrocephalus1GLI3 CL E G H2737380ORPHA09814319165240
HP:0000238HP:0002343Normal pressure hydrocephalus1GLI3 CL E G H2737175700Greig cephalopolysyndactyly syndrome175700C0265306OMIM09814319165240
HP:0000238HP:0010953Noncommunicating hydrocephalus1GLI3 CL E G H2737175700Greig cephalopolysyndactyly syndrome175700C0265306OMIM09814319165240
HP:0000238HP:0001334Communicating hydrocephalus1GLI3 CL E G H2737175700Greig cephalopolysyndactyly syndrome175700C0265306OMIM09814319165240
HP:0000238HP:0006882Severe hydrocephalus1GLI3 CL E G H2737175700Greig cephalopolysyndactyly syndrome175700C0265306OMIM09814319165240
HP:0000238HP:0002343Normal pressure hydrocephalus1GNAQ CL E G H27763205LBWD syndromeORPHA0914390600998
HP:0000238HP:0010953Noncommunicating hydrocephalus1GNAQ CL E G H27763205LBWD syndromeORPHA0914390600998
HP:0000238HP:0001334Communicating hydrocephalus1GNAQ CL E G H27763205LBWD syndromeORPHA0914390600998
HP:0000238HP:0006882Severe hydrocephalus1GNAQ CL E G H27763205LBWD syndromeORPHA0914390600998
HP:0000238HP:0001334Communicating hydrocephalus1GP1BB CL E G H2812567ORPHA04794440138720
HP:0000238HP:0006882Severe hydrocephalus1GP1BB CL E G H2812567ORPHA04794440138720
HP:0000238HP:0002343Normal pressure hydrocephalus1GP1BB CL E G H2812567ORPHA04794440138720
HP:0000238HP:0010953Noncommunicating hydrocephalus1GP1BB CL E G H2812567ORPHA04794440138720
HP:0000238HP:0002343Normal pressure hydrocephalus1HCCS CL E G H30522556ORPHA02344837300056
HP:0000238HP:0010953Noncommunicating hydrocephalus1HCCS CL E G H30522556ORPHA02344837300056
HP:0000238HP:0001334Communicating hydrocephalus1HCCS CL E G H30522556ORPHA02344837300056
HP:0000238HP:0006882Severe hydrocephalus1HCCS CL E G H30522556ORPHA02344837300056
HP:0000238HP:0002343Normal pressure hydrocephalus1HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM011154867605109
HP:0000238HP:0010953Noncommunicating hydrocephalus1HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM011154867605109
HP:0000238HP:0001334Communicating hydrocephalus1HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM011154867605109
HP:0000238HP:0006882Severe hydrocephalus1HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM011154867605109
HP:0000238HP:0006882Severe hydrocephalus1HIRA CL E G H7290567ORPHA04764916600237
HP:0000238HP:0002343Normal pressure hydrocephalus1HIRA CL E G H7290567ORPHA04764916600237
HP:0000238HP:0010953Noncommunicating hydrocephalus1HIRA CL E G H7290567ORPHA04764916600237
HP:0000238HP:0001334Communicating hydrocephalus1HIRA CL E G H7290567ORPHA04764916600237
HP:0000238HP:0001334Communicating hydrocephalus1HNRNPU CL E G H3192238769ORPHA08825048602869
HP:0000238HP:0006882Severe hydrocephalus1HNRNPU CL E G H3192238769ORPHA08825048602869
HP:0000238HP:0002343Normal pressure hydrocephalus1HNRNPU CL E G H3192238769ORPHA08825048602869
HP:0000238HP:0010953Noncommunicating hydrocephalus1HNRNPU CL E G H3192238769ORPHA08825048602869
HP:0000238HP:0010953Noncommunicating hydrocephalus1HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA031426558610693
HP:0000238HP:0001334Communicating hydrocephalus1HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA031426558610693
HP:0000238HP:0006882Severe hydrocephalus1HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA031426558610693
HP:0000238HP:0002343Normal pressure hydrocephalus1HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA031426558610693
HP:0000238HP:0002343Normal pressure hydrocephalus1IFT172 CL E G H26160615630Short-rib thoracic dysplasia 10 with or without polydactyly615630C3810175OMIM0135630391607386
HP:0000238HP:0010953Noncommunicating hydrocephalus1IFT172 CL E G H26160615630Short-rib thoracic dysplasia 10 with or without polydactyly615630C3810175OMIM0135630391607386
HP:0000238HP:0001334Communicating hydrocephalus1IFT172 CL E G H26160615630Short-rib thoracic dysplasia 10 with or without polydactyly615630C3810175OMIM0135630391607386
HP:0000238HP:0006882Severe hydrocephalus1IFT172 CL E G H26160615630Short-rib thoracic dysplasia 10 with or without polydactyly615630C3810175OMIM0135630391607386
HP:0000238HP:0010953Noncommunicating hydrocephalus1INPP5E CL E G H56623220493ORPHA078221474613037
HP:0000238HP:0001334Communicating hydrocephalus1INPP5E CL E G H56623220493ORPHA078221474613037
HP:0000238HP:0006882Severe hydrocephalus1INPP5E CL E G H56623220493ORPHA078221474613037
HP:0000238HP:0002343Normal pressure hydrocephalus1INPP5E CL E G H56623220493ORPHA078221474613037
HP:0000238HP:0001334Communicating hydrocephalus1INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA078221474613037
HP:0000238HP:0006882Severe hydrocephalus1INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA078221474613037
HP:0000238HP:0002343Normal pressure hydrocephalus1INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA078221474613037
HP:0000238HP:0010953Noncommunicating hydrocephalus1INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA078221474613037
HP:0000238HP:0006882Severe hydrocephalus1INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA078221474613037
HP:0000238HP:0002343Normal pressure hydrocephalus1INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA078221474613037
HP:0000238HP:0010953Noncommunicating hydrocephalus1INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA078221474613037
HP:0000238HP:0001334Communicating hydrocephalus1INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA078221474613037
HP:0000238HP:0002343Normal pressure hydrocephalus1JMJD1C CL E G H221037567ORPHA0117812313604503
HP:0000238HP:0010953Noncommunicating hydrocephalus1JMJD1C CL E G H221037567ORPHA0117812313604503
HP:0000238HP:0001334Communicating hydrocephalus1JMJD1C CL E G H221037567ORPHA0117812313604503
HP:0000238HP:0006882Severe hydrocephalus1JMJD1C CL E G H221037567ORPHA0117812313604503
HP:0000238HP:0006882Severe hydrocephalus1KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA029068616650
HP:0000238HP:0002343Normal pressure hydrocephalus1KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA029068616650
HP:0000238HP:0010953Noncommunicating hydrocephalus1KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA029068616650
HP:0000238HP:0001334Communicating hydrocephalus1KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA029068616650
HP:0000238HP:0002343Normal pressure hydrocephalus1KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA0125319960610178
HP:0000238HP:0010953Noncommunicating hydrocephalus1KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA0125319960610178
HP:0000238HP:0001334Communicating hydrocephalus1KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA0125319960610178
HP:0000238HP:0006882Severe hydrocephalus1KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA0125319960610178
HP:0000238HP:0006882Severe hydrocephalus1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0000238HP:0002343Normal pressure hydrocephalus1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0000238HP:0010953Noncommunicating hydrocephalus1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0000238HP:0001334Communicating hydrocephalus1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0000238HP:0002343Normal pressure hydrocephalus1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM03676556604407
HP:0000238HP:0010953Noncommunicating hydrocephalus1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM03676556604407
HP:0000238HP:0001334Communicating hydrocephalus1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM03676556604407
HP:0000238HP:0006882Severe hydrocephalus1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM03676556604407
HP:0000238HP:0001334Communicating hydrocephalus1LIG4 CL E G H3981235ORPHA06266601601837
HP:0000238HP:0006882Severe hydrocephalus1LIG4 CL E G H3981235ORPHA06266601601837
HP:0000238HP:0002343Normal pressure hydrocephalus1LIG4 CL E G H3981235ORPHA06266601601837
HP:0000238HP:0010953Noncommunicating hydrocephalus1LIG4 CL E G H3981235ORPHA06266601601837
HP:0000238HP:0010953Noncommunicating hydrocephalus1LMBR1 CL E G H643272378ORPHA042213243605522
HP:0000238HP:0001334Communicating hydrocephalus1LMBR1 CL E G H643272378ORPHA042213243605522
HP:0000238HP:0006882Severe hydrocephalus1LMBR1 CL E G H643272378ORPHA042213243605522
HP:0000238HP:0002343Normal pressure hydrocephalus1LMBR1 CL E G H643272378ORPHA042213243605522
HP:0000238HP:0006882Severe hydrocephalus1MAD2L2 CL E G H1045984ORPHA01216764604094
HP:0000238HP:0002343Normal pressure hydrocephalus1MAD2L2 CL E G H1045984ORPHA01216764604094
HP:0000238HP:0010953Noncommunicating hydrocephalus1MAD2L2 CL E G H1045984ORPHA01216764604094
HP:0000238HP:0001334Communicating hydrocephalus1MAD2L2 CL E G H1045984ORPHA01216764604094
HP:0000238HP:0002343Normal pressure hydrocephalus1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0000238HP:0010953Noncommunicating hydrocephalus1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0000238HP:0001334Communicating hydrocephalus1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0000238HP:0006882Severe hydrocephalus1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0000238HP:0010953Noncommunicating hydrocephalus1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0000238HP:0001334Communicating hydrocephalus1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0000238HP:0006882Severe hydrocephalus1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0000238HP:0002343Normal pressure hydrocephalus1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0000238HP:0001334Communicating hydrocephalus1MC1R CL E G H4157626ORPHA05096929155555
HP:0000238HP:0006882Severe hydrocephalus1MC1R CL E G H4157626ORPHA05096929155555
HP:0000238HP:0002343Normal pressure hydrocephalus1MC1R CL E G H4157626ORPHA05096929155555
HP:0000238HP:0010953Noncommunicating hydrocephalus1MC1R CL E G H4157626ORPHA05096929155555
HP:0000238HP:0002343Normal pressure hydrocephalus1MFN2 CL E G H992799947ORPHA0122216877608507
HP:0000238HP:0010953Noncommunicating hydrocephalus1MFN2 CL E G H992799947ORPHA0122216877608507
HP:0000238HP:0001334Communicating hydrocephalus1MFN2 CL E G H992799947ORPHA0122216877608507
HP:0000238HP:0006882Severe hydrocephalus1MFN2 CL E G H992799947ORPHA0122216877608507
HP:0000238HP:0001334Communicating hydrocephalus1MKS1 CL E G H54903220493ORPHA08397121609883
HP:0000238HP:0006882Severe hydrocephalus1MKS1 CL E G H54903564ORPHA08397121609883
HP:0000238HP:0006882Severe hydrocephalus1MKS1 CL E G H54903220493ORPHA08397121609883
HP:0000238HP:0002343Normal pressure hydrocephalus1MKS1 CL E G H54903564ORPHA08397121609883
HP:0000238HP:0002343Normal pressure hydrocephalus1MKS1 CL E G H54903220493ORPHA08397121609883
HP:0000238HP:0010953Noncommunicating hydrocephalus1MKS1 CL E G H54903564ORPHA08397121609883
HP:0000238HP:0010953Noncommunicating hydrocephalus1MKS1 CL E G H54903220493ORPHA08397121609883
HP:0000238HP:0001334Communicating hydrocephalus1MKS1 CL E G H54903564ORPHA08397121609883
HP:0000238HP:0010953Noncommunicating hydrocephalus1MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA08397121609883
HP:0000238HP:0001334Communicating hydrocephalus1MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA08397121609883
HP:0000238HP:0006882Severe hydrocephalus1MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA08397121609883
HP:0000238HP:0002343Normal pressure hydrocephalus1MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA08397121609883
HP:0000238HP:0010953Noncommunicating hydrocephalus1NDUFB11 CL E G H545392556ORPHA020920372300403
HP:0000238HP:0001334Communicating hydrocephalus1NDUFB11 CL E G H545392556ORPHA020920372300403
HP:0000238HP:0006882Severe hydrocephalus1NDUFB11 CL E G H545392556ORPHA020920372300403
HP:0000238HP:0002343Normal pressure hydrocephalus1NDUFB11 CL E G H545392556ORPHA020920372300403
HP:0000238HP:0001334Communicating hydrocephalus1NOTCH2 CL E G H4853955ORPHA011227882600275
HP:0000238HP:0006882Severe hydrocephalus1NOTCH2 CL E G H4853955ORPHA011227882600275
HP:0000238HP:0002343Normal pressure hydrocephalus1NOTCH2 CL E G H4853955ORPHA011227882600275
HP:0000238HP:0010953Noncommunicating hydrocephalus1NOTCH2 CL E G H4853955ORPHA011227882600275
HP:0000238HP:0006882Severe hydrocephalus1NPHP1 CL E G H4867220497ORPHA08157905607100
HP:0000238HP:0002343Normal pressure hydrocephalus1NPHP1 CL E G H4867220497ORPHA08157905607100
HP:0000238HP:0010953Noncommunicating hydrocephalus1NPHP1 CL E G H4867220497ORPHA08157905607100
HP:0000238HP:0001334Communicating hydrocephalus1NPHP1 CL E G H4867220497ORPHA08157905607100
HP:0000238HP:0006882Severe hydrocephalus1NRAS CL E G H4893626ORPHA02817989164790
HP:0000238HP:0002343Normal pressure hydrocephalus1NRAS CL E G H4893626ORPHA02817989164790
HP:0000238HP:0010953Noncommunicating hydrocephalus1NRAS CL E G H4893626ORPHA02817989164790
HP:0000238HP:0001334Communicating hydrocephalus1NRAS CL E G H4893626ORPHA02817989164790
HP:0000238HP:0010953Noncommunicating hydrocephalus1NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM02817989164790
HP:0000238HP:0001334Communicating hydrocephalus1NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM02817989164790
HP:0000238HP:0006882Severe hydrocephalus1NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM02817989164790
HP:0000238HP:0002343Normal pressure hydrocephalus1NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM02817989164790
HP:0000238HP:0010953Noncommunicating hydrocephalus1NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM053812766602952
HP:0000238HP:0001334Communicating hydrocephalus1NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM053812766602952
HP:0000238HP:0006882Severe hydrocephalus1NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM053812766602952
HP:0000238HP:0002343Normal pressure hydrocephalus1NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM053812766602952
HP:0000238HP:0006882Severe hydrocephalus1NSUN2 CL E G H54888235ORPHA056625994610916
HP:0000238HP:0002343Normal pressure hydrocephalus1NSUN2 CL E G H54888235ORPHA056625994610916
HP:0000238HP:0010953Noncommunicating hydrocephalus1NSUN2 CL E G H54888235ORPHA056625994610916
HP:0000238HP:0001334Communicating hydrocephalus1NSUN2 CL E G H54888235ORPHA056625994610916
HP:0000238HP:0002343Normal pressure hydrocephalus1PALB2 CL E G H7972884ORPHA0522526144610355
HP:0000238HP:0010953Noncommunicating hydrocephalus1PALB2 CL E G H7972884ORPHA0522526144610355
HP:0000238HP:0001334Communicating hydrocephalus1PALB2 CL E G H7972884ORPHA0522526144610355
HP:0000238HP:0006882Severe hydrocephalus1PALB2 CL E G H7972884ORPHA0522526144610355
HP:0000238HP:0001334Communicating hydrocephalus1PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA018023352607532
HP:0000238HP:0006882Severe hydrocephalus1PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA018023352607532
HP:0000238HP:0002343Normal pressure hydrocephalus1PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA018023352607532
HP:0000238HP:0010953Noncommunicating hydrocephalus1PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA018023352607532
HP:0000238HP:0001334Communicating hydrocephalus1PIEZO2 CL E G H638952461ORPHA097826270613629
HP:0000238HP:0006882Severe hydrocephalus1PIEZO2 CL E G H638952461ORPHA097826270613629
HP:0000238HP:0002343Normal pressure hydrocephalus1PIEZO2 CL E G H638952461ORPHA097826270613629
HP:0000238HP:0010953Noncommunicating hydrocephalus1PIEZO2 CL E G H638952461ORPHA097826270613629
HP:0000238HP:0006882Severe hydrocephalus1PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM030426031610274
HP:0000238HP:0002343Normal pressure hydrocephalus1PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM030426031610274
HP:0000238HP:0010953Noncommunicating hydrocephalus1PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM030426031610274
HP:0000238HP:0001334Communicating hydrocephalus1PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM030426031610274
HP:0000238HP:0006882Severe hydrocephalus1PLG CL E G H534097231ORPHA02979071173350
HP:0000238HP:0010953Noncommunicating hydrocephalus1PLG CL E G H5340722ORPHA02979071173350
HP:0000238HP:0002343Normal pressure hydrocephalus1PLG CL E G H534097231ORPHA02979071173350
HP:0000238HP:0001334Communicating hydrocephalus1PLG CL E G H5340722ORPHA02979071173350
HP:0000238HP:0010953Noncommunicating hydrocephalus1PLG CL E G H534097231ORPHA02979071173350
HP:0000238HP:0006882Severe hydrocephalus1PLG CL E G H5340722ORPHA02979071173350
HP:0000238HP:0001334Communicating hydrocephalus1PLG CL E G H534097231ORPHA02979071173350
HP:0000238HP:0002343Normal pressure hydrocephalus1PLG CL E G H5340722ORPHA02979071173350
HP:0000238HP:0001334Communicating hydrocephalus1POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM030726267615247
HP:0000238HP:0006882Severe hydrocephalus1POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM030726267615247
HP:0000238HP:0002343Normal pressure hydrocephalus1POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM030726267615247
HP:0000238HP:0010953Noncommunicating hydrocephalus1POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM030726267615247
HP:0000238HP:0001334Communicating hydrocephalus1PTCH1 CL E G H5727377ORPHA044879585601309
HP:0000238HP:0006882Severe hydrocephalus1PTCH1 CL E G H5727377ORPHA044879585601309
HP:0000238HP:0002343Normal pressure hydrocephalus1PTCH1 CL E G H5727377ORPHA044879585601309
HP:0000238HP:0010953Noncommunicating hydrocephalus1PTCH1 CL E G H5727377ORPHA044879585601309
HP:0000238HP:0006882Severe hydrocephalus1PTCH2 CL E G H8643377ORPHA07919586603673
HP:0000238HP:0002343Normal pressure hydrocephalus1PTCH2 CL E G H8643377ORPHA07919586603673
HP:0000238HP:0010953Noncommunicating hydrocephalus1PTCH2 CL E G H8643377ORPHA07919586603673
HP:0000238HP:0001334Communicating hydrocephalus1PTCH2 CL E G H8643377ORPHA07919586603673
HP:0000238HP:0006882Severe hydrocephalus1PTDSS1 CL E G H97912658ORPHA01909587612792
HP:0000238HP:0002343Normal pressure hydrocephalus1PTDSS1 CL E G H97912658ORPHA01909587612792
HP:0000238HP:0010953Noncommunicating hydrocephalus1PTDSS1 CL E G H97912658ORPHA01909587612792
HP:0000238HP:0001334Communicating hydrocephalus1PTDSS1 CL E G H97912658ORPHA01909587612792
HP:0000238HP:0010953Noncommunicating hydrocephalus1RAD51 CL E G H588884ORPHA03589817179617
HP:0000238HP:0001334Communicating hydrocephalus1RAD51 CL E G H588884ORPHA03589817179617
HP:0000238HP:0006882Severe hydrocephalus1RAD51 CL E G H588884ORPHA03589817179617
HP:0000238HP:0002343Normal pressure hydrocephalus1RAD51 CL E G H588884ORPHA03589817179617
HP:0000238HP:0001334Communicating hydrocephalus1RAD51C CL E G H588984ORPHA018279820602774
HP:0000238HP:0006882Severe hydrocephalus1RAD51C CL E G H588984ORPHA018279820602774
HP:0000238HP:0002343Normal pressure hydrocephalus1RAD51C CL E G H588984ORPHA018279820602774
HP:0000238HP:0010953Noncommunicating hydrocephalus1RAD51C CL E G H588984ORPHA018279820602774
HP:0000238HP:0006882Severe hydrocephalus1RFWD3 CL E G H5515984ORPHA032625539614151
HP:0000238HP:0002343Normal pressure hydrocephalus1RFWD3 CL E G H5515984ORPHA032625539614151
HP:0000238HP:0010953Noncommunicating hydrocephalus1RFWD3 CL E G H5515984ORPHA032625539614151
HP:0000238HP:0001334Communicating hydrocephalus1RFWD3 CL E G H5515984ORPHA032625539614151
HP:0000238HP:0002343Normal pressure hydrocephalus1ROGDI CL E G H796411946ORPHA056029478614574
HP:0000238HP:0010953Noncommunicating hydrocephalus1ROGDI CL E G H796411946ORPHA056029478614574
HP:0000238HP:0001334Communicating hydrocephalus1ROGDI CL E G H796411946ORPHA056029478614574
HP:0000238HP:0006882Severe hydrocephalus1ROGDI CL E G H796411946ORPHA056029478614574
HP:0000238HP:0002343Normal pressure hydrocephalus1RPGRIP1 CL E G H57096564ORPHA0101013436605446
HP:0000238HP:0010953Noncommunicating hydrocephalus1RPGRIP1 CL E G H57096564ORPHA0101013436605446
HP:0000238HP:0001334Communicating hydrocephalus1RPGRIP1 CL E G H57096564ORPHA0101013436605446
HP:0000238HP:0006882Severe hydrocephalus1RPGRIP1 CL E G H57096564ORPHA0101013436605446
HP:0000238HP:0002343Normal pressure hydrocephalus1RPGRIP1L CL E G H23322220497ORPHA0149429168610937
HP:0000238HP:0010953Noncommunicating hydrocephalus1RPGRIP1L CL E G H23322564ORPHA0149429168610937
HP:0000238HP:0010953Noncommunicating hydrocephalus1RPGRIP1L CL E G H23322220497ORPHA0149429168610937
HP:0000238HP:0001334Communicating hydrocephalus1RPGRIP1L CL E G H23322564ORPHA0149429168610937
HP:0000238HP:0001334Communicating hydrocephalus1RPGRIP1L CL E G H23322220497ORPHA0149429168610937
HP:0000238HP:0006882Severe hydrocephalus1RPGRIP1L CL E G H23322564ORPHA0149429168610937
HP:0000238HP:0006882Severe hydrocephalus1RPGRIP1L CL E G H23322220497ORPHA0149429168610937
HP:0000238HP:0002343Normal pressure hydrocephalus1RPGRIP1L CL E G H23322564ORPHA0149429168610937
HP:0000238HP:0002343Normal pressure hydrocephalus1RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA0149429168610937
HP:0000238HP:0010953Noncommunicating hydrocephalus1RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA0149429168610937
HP:0000238HP:0001334Communicating hydrocephalus1RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA0149429168610937
HP:0000238HP:0006882Severe hydrocephalus1RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA0149429168610937
HP:0000238HP:0010953Noncommunicating hydrocephalus1RREB1 CL E G H6239567ORPHA029710449602209
HP:0000238HP:0001334Communicating hydrocephalus1RREB1 CL E G H6239567ORPHA029710449602209
HP:0000238HP:0006882Severe hydrocephalus1RREB1 CL E G H6239567ORPHA029710449602209
HP:0000238HP:0002343Normal pressure hydrocephalus1RREB1 CL E G H6239567ORPHA029710449602209
HP:0000238HP:0010953Noncommunicating hydrocephalus1SAMD9 CL E G H54809617053Mirage syndrome617053C4284088OMIM07481348610456
HP:0000238HP:0001334Communicating hydrocephalus1SAMD9 CL E G H54809617053Mirage syndrome617053C4284088OMIM07481348610456
HP:0000238HP:0006882Severe hydrocephalus1SAMD9 CL E G H54809617053Mirage syndrome617053C4284088OMIM07481348610456
HP:0000238HP:0002343Normal pressure hydrocephalus1SAMD9 CL E G H54809617053Mirage syndrome617053C4284088OMIM07481348610456
HP:0000238HP:0001334Communicating hydrocephalus1SEC24C CL E G H9632567ORPHA05810705607185
HP:0000238HP:0006882Severe hydrocephalus1SEC24C CL E G H9632567ORPHA05810705607185
HP:0000238HP:0002343Normal pressure hydrocephalus1SEC24C CL E G H9632567ORPHA05810705607185
HP:0000238HP:0010953Noncommunicating hydrocephalus1SEC24C CL E G H9632567ORPHA05810705607185
HP:0000238HP:0001334Communicating hydrocephalus1SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM0106210896164780
HP:0000238HP:0006882Severe hydrocephalus1SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM0106210896164780
HP:0000238HP:0002343Normal pressure hydrocephalus1SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM0106210896164780
HP:0000238HP:0010953Noncommunicating hydrocephalus1SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM0106210896164780
HP:0000238HP:0010953Noncommunicating hydrocephalus1SLC13A5 CL E G H2841111946ORPHA068523089608305
HP:0000238HP:0001334Communicating hydrocephalus1SLC13A5 CL E G H2841111946ORPHA068523089608305
HP:0000238HP:0006882Severe hydrocephalus1SLC13A5 CL E G H2841111946ORPHA068523089608305
HP:0000238HP:0002343Normal pressure hydrocephalus1SLC13A5 CL E G H2841111946ORPHA068523089608305
HP:0000238HP:0010953Noncommunicating hydrocephalus1SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0000238HP:0001334Communicating hydrocephalus1SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0000238HP:0006882Severe hydrocephalus1SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0000238HP:0002343Normal pressure hydrocephalus1SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0000238HP:0002343Normal pressure hydrocephalus1SLX4 CL E G H8446484ORPHA0196823845613278
HP:0000238HP:0010953Noncommunicating hydrocephalus1SLX4 CL E G H8446484ORPHA0196823845613278
HP:0000238HP:0001334Communicating hydrocephalus1SLX4 CL E G H8446484ORPHA0196823845613278
HP:0000238HP:0006882Severe hydrocephalus1SLX4 CL E G H8446484ORPHA0196823845613278
HP:0000238HP:0010953Noncommunicating hydrocephalus1SMOC1 CL E G H640931106ORPHA012220318608488
HP:0000238HP:0001334Communicating hydrocephalus1SMOC1 CL E G H640931106ORPHA012220318608488
HP:0000238HP:0006882Severe hydrocephalus1SMOC1 CL E G H640931106ORPHA012220318608488
HP:0000238HP:0002343Normal pressure hydrocephalus1SMOC1 CL E G H640931106ORPHA012220318608488
HP:0000238HP:0010953Noncommunicating hydrocephalus1SOX2 CL E G H665777298ORPHA021111195184429
HP:0000238HP:0001334Communicating hydrocephalus1SOX2 CL E G H665777298ORPHA021111195184429
HP:0000238HP:0006882Severe hydrocephalus1SOX2 CL E G H665777298ORPHA021111195184429
HP:0000238HP:0002343Normal pressure hydrocephalus1SOX2 CL E G H665777298ORPHA021111195184429
HP:0000238HP:0002343Normal pressure hydrocephalus1SUFU CL E G H51684377ORPHA0130616466607035
HP:0000238HP:0010953Noncommunicating hydrocephalus1SUFU CL E G H51684377ORPHA0130616466607035
HP:0000238HP:0001334Communicating hydrocephalus1SUFU CL E G H51684377ORPHA0130616466607035
HP:0000238HP:0006882Severe hydrocephalus1SUFU CL E G H51684377ORPHA0130616466607035
HP:0000238HP:0006882Severe hydrocephalus1TBX1 CL E G H6899567ORPHA0116911592602054
HP:0000238HP:0002343Normal pressure hydrocephalus1TBX1 CL E G H6899567ORPHA0116911592602054
HP:0000238HP:0010953Noncommunicating hydrocephalus1TBX1 CL E G H6899567ORPHA0116911592602054
HP:0000238HP:0001334Communicating hydrocephalus1TBX1 CL E G H6899567ORPHA0116911592602054
HP:0000238HP:0006882Severe hydrocephalus1TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA039326113609863
HP:0000238HP:0002343Normal pressure hydrocephalus1TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA039326113609863
HP:0000238HP:0010953Noncommunicating hydrocephalus1TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA039326113609863
HP:0000238HP:0001334Communicating hydrocephalus1TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA039326113609863
HP:0000238HP:0001334Communicating hydrocephalus1TCTN2 CL E G H79867564ORPHA062225774613846
HP:0000238HP:0006882Severe hydrocephalus1TCTN2 CL E G H79867564ORPHA062225774613846
HP:0000238HP:0002343Normal pressure hydrocephalus1TCTN2 CL E G H79867564ORPHA062225774613846
HP:0000238HP:0010953Noncommunicating hydrocephalus1TCTN2 CL E G H79867564ORPHA062225774613846
HP:0000238HP:0002343Normal pressure hydrocephalus1TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA062225774613846
HP:0000238HP:0010953Noncommunicating hydrocephalus1TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA062225774613846
HP:0000238HP:0001334Communicating hydrocephalus1TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA062225774613846
HP:0000238HP:0006882Severe hydrocephalus1TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA062225774613846
HP:0000238HP:0006882Severe hydrocephalus1TGFBR1 CL E G H7046609192Loeys-Dietz syndrome 1609192C2697933OMIM088411772190181
HP:0000238HP:0002343Normal pressure hydrocephalus1TGFBR1 CL E G H7046609192Loeys-Dietz syndrome 1609192C2697933OMIM088411772190181
HP:0000238HP:0010953Noncommunicating hydrocephalus1TGFBR1 CL E G H7046609192Loeys-Dietz syndrome 1609192C2697933OMIM088411772190181
HP:0000238HP:0001334Communicating hydrocephalus1TGFBR1 CL E G H7046609192Loeys-Dietz syndrome 1609192C2697933OMIM088411772190181
HP:0000238HP:0010953Noncommunicating hydrocephalus1TGFBR2 CL E G H7048610168Loeys-Dietz syndrome 2610168C2674876OMIM094811773190182
HP:0000238HP:0001334Communicating hydrocephalus1TGFBR2 CL E G H7048610168Loeys-Dietz syndrome 2610168C2674876OMIM094811773190182
HP:0000238HP:0006882Severe hydrocephalus1TGFBR2 CL E G H7048610168Loeys-Dietz syndrome 2610168C2674876OMIM094811773190182
HP:0000238HP:0002343Normal pressure hydrocephalus1TGFBR2 CL E G H7048610168Loeys-Dietz syndrome 2610168C2674876OMIM094811773190182
HP:0000238HP:0006882Severe hydrocephalus1TMEM107 CL E G H84314564ORPHA029928128616183
HP:0000238HP:0002343Normal pressure hydrocephalus1TMEM107 CL E G H84314564ORPHA029928128616183
HP:0000238HP:0010953Noncommunicating hydrocephalus1TMEM107 CL E G H84314564ORPHA029928128616183
HP:0000238HP:0001334Communicating hydrocephalus1TMEM107 CL E G H84314564ORPHA029928128616183
HP:0000238HP:0002343Normal pressure hydrocephalus1TMEM138 CL E G H515242318ORPHA016626944614459
HP:0000238HP:0010953Noncommunicating hydrocephalus1TMEM138 CL E G H515242318ORPHA016626944614459
HP:0000238HP:0001334Communicating hydrocephalus1TMEM138 CL E G H515242318ORPHA016626944614459
HP:0000238HP:0006882Severe hydrocephalus1TMEM138 CL E G H515242318ORPHA016626944614459
HP:0000238HP:0010953Noncommunicating hydrocephalus1TMEM216 CL E G H512592318ORPHA023625018613277
HP:0000238HP:0002343Normal pressure hydrocephalus1TMEM216 CL E G H51259564ORPHA023625018613277
HP:0000238HP:0001334Communicating hydrocephalus1TMEM216 CL E G H512592318ORPHA023625018613277
HP:0000238HP:0010953Noncommunicating hydrocephalus1TMEM216 CL E G H51259564ORPHA023625018613277
HP:0000238HP:0006882Severe hydrocephalus1TMEM216 CL E G H512592318ORPHA023625018613277
HP:0000238HP:0001334Communicating hydrocephalus1TMEM216 CL E G H51259564ORPHA023625018613277
HP:0000238HP:0002343Normal pressure hydrocephalus1TMEM216 CL E G H512592318ORPHA023625018613277
HP:0000238HP:0006882Severe hydrocephalus1TMEM216 CL E G H51259564ORPHA023625018613277
HP:0000238HP:0001334Communicating hydrocephalus1TMEM231 CL E G H795832318ORPHA046337234614949
HP:0000238HP:0010953Noncommunicating hydrocephalus1TMEM231 CL E G H79583564ORPHA046337234614949
HP:0000238HP:0006882Severe hydrocephalus1TMEM231 CL E G H795832318ORPHA046337234614949
HP:0000238HP:0001334Communicating hydrocephalus1TMEM231 CL E G H79583564ORPHA046337234614949
HP:0000238HP:0002343Normal pressure hydrocephalus1TMEM231 CL E G H795832318ORPHA046337234614949
HP:0000238HP:0006882Severe hydrocephalus1TMEM231 CL E G H79583564ORPHA046337234614949
HP:0000238HP:0010953Noncommunicating hydrocephalus1TMEM231 CL E G H795832318ORPHA046337234614949
HP:0000238HP:0002343Normal pressure hydrocephalus1TMEM231 CL E G H79583564ORPHA046337234614949
HP:0000238HP:0006882Severe hydrocephalus1TMEM237 CL E G H650622318ORPHA046614432614423
HP:0000238HP:0010953Noncommunicating hydrocephalus1TMEM237 CL E G H65062220497ORPHA046614432614423
HP:0000238HP:0002343Normal pressure hydrocephalus1TMEM237 CL E G H650622318ORPHA046614432614423
HP:0000238HP:0001334Communicating hydrocephalus1TMEM237 CL E G H65062220497ORPHA046614432614423
HP:0000238HP:0010953Noncommunicating hydrocephalus1TMEM237 CL E G H650622318ORPHA046614432614423
HP:0000238HP:0006882Severe hydrocephalus1TMEM237 CL E G H65062220497ORPHA046614432614423
HP:0000238HP:0002343Normal pressure hydrocephalus1TMEM237 CL E G H65062220497ORPHA046614432614423
HP:0000238HP:0001334Communicating hydrocephalus1TMEM237 CL E G H650622318ORPHA046614432614423
HP:0000238HP:0010953Noncommunicating hydrocephalus1TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA046614432614423
HP:0000238HP:0001334Communicating hydrocephalus1TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA046614432614423
HP:0000238HP:0006882Severe hydrocephalus1TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA046614432614423
HP:0000238HP:0002343Normal pressure hydrocephalus1TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA046614432614423
HP:0000238HP:0001334Communicating hydrocephalus1TMEM67 CL E G H91147564ORPHA092828396609884
HP:0000238HP:0006882Severe hydrocephalus1TMEM67 CL E G H91147564ORPHA092828396609884
HP:0000238HP:0002343Normal pressure hydrocephalus1TMEM67 CL E G H91147564ORPHA092828396609884
HP:0000238HP:0010953Noncommunicating hydrocephalus1TMEM67 CL E G H91147564ORPHA092828396609884
HP:0000238HP:0001334Communicating hydrocephalus1TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA092828396609884
HP:0000238HP:0006882Severe hydrocephalus1TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA092828396609884
HP:0000238HP:0002343Normal pressure hydrocephalus1TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA092828396609884
HP:0000238HP:0010953Noncommunicating hydrocephalus1TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA092828396609884
HP:0000238HP:0010953Noncommunicating hydrocephalus1TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA092828396609884
HP:0000238HP:0001334Communicating hydrocephalus1TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA092828396609884
HP:0000238HP:0006882Severe hydrocephalus1TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA092828396609884
HP:0000238HP:0002343Normal pressure hydrocephalus1TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA092828396609884
HP:0000238HP:0010953Noncommunicating hydrocephalus1TMEM67 CL E G H91147607361Meckel syndrome type 3607361C1846357OMIM092828396609884
HP:0000238HP:0001334Communicating hydrocephalus1TMEM67 CL E G H91147607361Meckel syndrome type 3607361C1846357OMIM092828396609884
HP:0000238HP:0006882Severe hydrocephalus1TMEM67 CL E G H91147607361Meckel syndrome type 3607361C1846357OMIM092828396609884
HP:0000238HP:0002343Normal pressure hydrocephalus1TMEM67 CL E G H91147607361Meckel syndrome type 3607361C1846357OMIM092828396609884
HP:0000238HP:0001334Communicating hydrocephalus1TREM2 CL E G H542092770ORPHA015417761605086
HP:0000238HP:0006882Severe hydrocephalus1TREM2 CL E G H542092770ORPHA015417761605086
HP:0000238HP:0002343Normal pressure hydrocephalus1TREM2 CL E G H542092770ORPHA015417761605086
HP:0000238HP:0010953Noncommunicating hydrocephalus1TREM2 CL E G H542092770ORPHA015417761605086
HP:0000238HP:0001334Communicating hydrocephalus1TRPV4 CL E G H593412635ORPHA0101818083605427
HP:0000238HP:0006882Severe hydrocephalus1TRPV4 CL E G H593412635ORPHA0101818083605427
HP:0000238HP:0002343Normal pressure hydrocephalus1TRPV4 CL E G H593412635ORPHA0101818083605427
HP:0000238HP:0010953Noncommunicating hydrocephalus1TRPV4 CL E G H593412635ORPHA0101818083605427
HP:0000238HP:0006882Severe hydrocephalus1TSC1 CL E G H7248538ORPHA0417212362605284
HP:0000238HP:0002343Normal pressure hydrocephalus1TSC1 CL E G H7248538ORPHA0417212362605284
HP:0000238HP:0010953Noncommunicating hydrocephalus1TSC1 CL E G H7248538ORPHA0417212362605284
HP:0000238HP:0001334Communicating hydrocephalus1TSC1 CL E G H7248538ORPHA0417212362605284
HP:0000238HP:0002343Normal pressure hydrocephalus1TSC2 CL E G H7249538ORPHA0963812363191092
HP:0000238HP:0010953Noncommunicating hydrocephalus1TSC2 CL E G H7249538ORPHA0963812363191092
HP:0000238HP:0001334Communicating hydrocephalus1TSC2 CL E G H7249538ORPHA0963812363191092
HP:0000238HP:0006882Severe hydrocephalus1TSC2 CL E G H7249538ORPHA0963812363191092
HP:0000238HP:0006882Severe hydrocephalus1TYROBP CL E G H73052770ORPHA011012449604142
HP:0000238HP:0002343Normal pressure hydrocephalus1TYROBP CL E G H73052770ORPHA011012449604142
HP:0000238HP:0010953Noncommunicating hydrocephalus1TYROBP CL E G H73052770ORPHA011012449604142
HP:0000238HP:0001334Communicating hydrocephalus1TYROBP CL E G H73052770ORPHA011012449604142
HP:0000238HP:0010953Noncommunicating hydrocephalus1UBE2T CL E G H2908984ORPHA04525009610538
HP:0000238HP:0001334Communicating hydrocephalus1UBE2T CL E G H2908984ORPHA04525009610538
HP:0000238HP:0006882Severe hydrocephalus1UBE2T CL E G H2908984ORPHA04525009610538
HP:0000238HP:0002343Normal pressure hydrocephalus1UBE2T CL E G H2908984ORPHA04525009610538
HP:0000238HP:0002343Normal pressure hydrocephalus1UFD1 CL E G H7353567ORPHA041512520601754
HP:0000238HP:0010953Noncommunicating hydrocephalus1UFD1 CL E G H7353567ORPHA041512520601754
HP:0000238HP:0001334Communicating hydrocephalus1UFD1 CL E G H7353567ORPHA041512520601754
HP:0000238HP:0006882Severe hydrocephalus1UFD1 CL E G H7353567ORPHA041512520601754
HP:0000238HP:0001334Communicating hydrocephalus1VAC14 CL E G H556973472MeningococcemiaORPHA036725507604632
HP:0000238HP:0006882Severe hydrocephalus1VAC14 CL E G H556973472MeningococcemiaORPHA036725507604632
HP:0000238HP:0002343Normal pressure hydrocephalus1VAC14 CL E G H556973472MeningococcemiaORPHA036725507604632
HP:0000238HP:0010953Noncommunicating hydrocephalus1VAC14 CL E G H556973472MeningococcemiaORPHA036725507604632
HP:0000238HP:0006882Severe hydrocephalus1WDPCP CL E G H51057564ORPHA058728027613580
HP:0000238HP:0002343Normal pressure hydrocephalus1WDPCP CL E G H51057564ORPHA058728027613580
HP:0000238HP:0010953Noncommunicating hydrocephalus1WDPCP CL E G H51057564ORPHA058728027613580
HP:0000238HP:0001334Communicating hydrocephalus1WDPCP CL E G H51057564ORPHA058728027613580
HP:0000238HP:0001334Communicating hydrocephalus1WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM0127640
HP:0000238HP:0006882Severe hydrocephalus1WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM0127640
HP:0000238HP:0002343Normal pressure hydrocephalus1WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM0127640
HP:0000238HP:0010953Noncommunicating hydrocephalus1WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM0127640
HP:0000238HP:0001334Communicating hydrocephalus1XRCC2 CL E G H751684ORPHA069712829600375
HP:0000238HP:0006882Severe hydrocephalus1XRCC2 CL E G H751684ORPHA069712829600375
HP:0000238HP:0002343Normal pressure hydrocephalus1XRCC2 CL E G H751684ORPHA069712829600375
HP:0000238HP:0010953Noncommunicating hydrocephalus1XRCC2 CL E G H751684ORPHA069712829600375
HP:0000238HP:0002343Normal pressure hydrocephalus1ZNF423 CL E G H230902318ORPHA081016762604557
HP:0000238HP:0010953Noncommunicating hydrocephalus1ZNF423 CL E G H230902318ORPHA081016762604557
HP:0000238HP:0001334Communicating hydrocephalus1ZNF423 CL E G H230902318ORPHA081016762604557
HP:0000238HP:0006882Severe hydrocephalus1ZNF423 CL E G H230902318ORPHA081016762604557


Genes (264) :AHI1 AKT3 ALG13 AMER1 AP1S2 ARHGAP31 ARL13B ARL3 ARMC9 ARSB ARVCF B3GALNT2 B3GAT3 B3GLCT B4GALT1 B4GAT1 B9D1 B9D2 BRAF BRCA1 BRCA2 BRIP1 BUB1B CC2D2A CCDC22 CCDC88C CCND2 CDCA7 CENPF CEP104 CEP120 CEP290 CEP41 CEP55 CEP83 CHST3 CLCN7 CLIC2 COL18A1 COL4A1 COMT COX7B CPLANE1 CPLX1 CRB2 CRPPA CSPP1 CTBP1 CTNNB1 CTSK CYP26C1 DAG1 DENND5A DHCR24 DHCR7 DLL4 DMPK DNAI1 DNMT3B DOCK6 DOK7 EBP EML1 EOGT ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ESCO2 FAM111A FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FKRP FKTN FLNA FLVCR2 FRAS1 FTO GALC GBA GFAP GLI2 GLI3 GMPPB GNAQ GP1BB GPC3 GPC4 GPSM2 GUSB HBA1 HBA2 HCCS HDAC6 HELLS HERC1 HIRA HNRNPU HRAS HYLS1 ICK IDS IDUA IFT172 IFT43 INPP5E ISPD JMJD1C KDM6A KIAA0556 KIAA0586 KIAA1109 KIF1A KIF7 KMT2D KRAS L1CAM LAMB1 LARGE1 LETM1 LIG4 LMBR1 MAD2L2 MAP2K1 MAP2K2 MBTPS2 MC1R MED12 MFN2 MKS1 MMACHC MPDZ MTM1 MUSK NDUFB11 NF1 NOTCH1 NOTCH2 NPHP1 NRAS NSD2 NSUN2 OFD1 OGDH OSTM1 P4HB PALB2 PEX19 PIBF1 PIEZO2 PIGV PIK3CA PIK3R2 PLG POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PORCN PPP1CB PPP2R1A PPP2R5D PRDX1 PRKAR1A PTCH1 PTCH2 PTDSS1 PTEN PYCR1 RAD51 RAD51C RAP1A RAP1B RAPSN RBPJ RECQL4 RFWD3 RNASEH2A RNF125 ROGDI RPGRIP1 RPGRIP1L RREB1 RSPO2 RXYLT1 SAMD9 SEC24C SEC24D SF3B4 SHOC2 SIK3 SKI SLC13A5 SLC17A5 SLC25A24 SLC29A3 SLX4 SMARCB1 SMOC1 SNX10 SOX2 SOX9 SUFU SUMF1 TBX1 TBX15 TCIRG1 TCTN1 TCTN2 TGFBR1 TGFBR2 TMEM107 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TNFRSF11A TNFSF11 TP53 TREM2 TRPV4 TSC1 TSC2 TUBB3 TYROBP UBE2T UFD1 VAC14 VANGL2 VHL VSX1 WASHC5 WDPCP WDR81 WHCR WNT3 XRCC2 ZBTB20 ZBTB24 ZIC2 ZIC3 ZNF423 ZNHIT3

Diseases (221) :220493 475 83473 615937 300884 300373 85335 304340 974 253200 567 588 899 615181 245600 709 261540 79332 615287 564 54595 115150 1340 84 257300 2318 1454 612284 7 236600 615938 243605 611134 615862 667 53 300886 1571 175780 2556 309801 194190 219730 614643 763 398189 616538 617281 35107 602398 270400 273 208150 300960 600348 220295 3267 207 268300 602361 259775 3412 314390 614083 616914 613001 101600 87 93259 1555 101200 207410 123790 93274 53271 93262 1860 100800 15 612247 616482 187600 3472 613153 236670 253800 272 90652 304120 225790 219000 612938 245200 2072 231005 203450 610829 380 175700 3205 312870 604213 253220 163596 163966 300863 617011 238769 218040 2189 612651 309900 93473 607014 615630 617866 2322 616546 617822 2836 614120 2182 304100 303350 307000 615191 613154 235 2378 85284 626 305450 99947 249000 79282 277400 310400 162200 955 102500 220497 249400 311200 31 259720 112240 614886 2461 239300 60040 602501 603387 97231 722 217090 253280 614830 615249 613150 305600 2701 616362 616355 101800 77301 377 109400 610828 2658 65285 612940 617244 218600 610333 616260 1946 3301 617053 616294 154400 618162 182212 269920 612289 168569 99966 1106 77298 114290 585 272200 260660 259700 609192 610168 608091 614424 607361 612301 2807 2770 2635 538 182940 892 614195 220210 617967 273395 3042 609637 2268 244400 133540 216400 2462 236680 615219 2050 2969 300570
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.