Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | AKT3 CL E G H | 10000 | 83473 | | | | ORPHA | 1 | | 321 | 393 | 611223 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | AKT3 CL E G H | 10000 | 615937 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 615937 | C4014738 | OMIM | 1 | | 321 | 393 | 611223 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | AMER1 CL E G H | 139285 | 300373 | Osteopathia striata with cranial sclerosis | 300373 | C0432268 | OMIM | 1 | | 450 | 26837 | 300647 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | AP1S2 CL E G H | 8905 | 85335 | | | | ORPHA | 1 | | 241 | 560 | 300629 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | ARHGAP31 CL E G H | 57514 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 1 | | 394 | 29216 | 610911 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | ARSB CL E G H | 411 | 253200 | Mucopolysaccharidosis type VI | 253200 | C0026709 | OMIM | 1 | | 820 | 714 | 611542 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | B3GALNT2 CL E G H | 148789 | 588 | | | | ORPHA | 1 | | 587 | 28596 | 610194 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | B3GALNT2 CL E G H | 148789 | 899 | | | | ORPHA | 1 | | 587 | 28596 | 610194 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | B3GALNT2 CL E G H | 148789 | 615181 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 615181 | C3554638 | OMIM | 1 | | 587 | 28596 | 610194 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | B3GAT3 CL E G H | 26229 | 245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | 245600 | C3278404 | OMIM | 1 | | 219 | 923 | 606374 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | B3GLCT CL E G H | 145173 | 709 | | | | ORPHA | 1 | | 310 | 20207 | 610308 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | B3GLCT CL E G H | 145173 | 261540 | Peters plus syndrome | 261540 | C0796012 | OMIM | 1 | | 310 | 20207 | 610308 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | B4GALT1 CL E G H | 2683 | 79332 | | | | ORPHA | 1 | | 184 | 924 | 137060 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | B4GAT1 CL E G H | 11041 | 899 | | | | ORPHA | 1 | | 205 | 15685 | 605517 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | B4GAT1 CL E G H | 11041 | 615287 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 | 615287 | C3809042 | OMIM | 1 | | 205 | 15685 | 605517 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | BRAF CL E G H | 673 | 115150 | Cardiofaciocutaneous syndrome 1 | 115150 | CN029449 | OMIM | 1 | | 1182 | 1097 | 164757 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | BUB1B CL E G H | 701 | 257300 | Mosaic variegated aneuploidy syndrome 1 | 257300 | CN031748 | OMIM | 1 | | 1529 | 1149 | 602860 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | CCDC22 CL E G H | 28952 | 7 | Typical Joubert syndrome MRI findings | | CN228298 | ORPHA | 1 | | 294 | 28909 | 300859 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | CCDC88C CL E G H | 440193 | 236600 | Congenital hydrocephalus 1 | 236600 | C3887608 | OMIM | 1 | | 586 | 19967 | 611204 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | CCND2 CL E G H | 894 | 83473 | | | | ORPHA | 1 | | 156 | 1583 | 123833 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | CCND2 CL E G H | 894 | 615938 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | 615938 | C4014742 | OMIM | 1 | | 156 | 1583 | 123833 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | CENPF CL E G H | 1063 | 243605 | Stromme syndrome | 243605 | C1855705 | OMIM | 1 | | 554 | 1857 | 600236 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | CHST3 CL E G H | 9469 | 245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | 245600 | C3278404 | OMIM | 1 | | 445 | 1971 | 603799 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | CLCN7 CL E G H | 1186 | 667 | | | | ORPHA | 1 | | 1009 | 2025 | 602727 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | COL18A1 CL E G H | 80781 | 1571 | | | | ORPHA | 1 | | 2717 | 2195 | 120328 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | COL4A1 CL E G H | 1282 | 899 | | | | ORPHA | 1 | | 1785 | 2202 | 120130 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | COL4A1 CL E G H | 1282 | 175780 | Porencephaly 1 | 175780 | CN032791 | OMIM | 1 | | 1785 | 2202 | 120130 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | COX7B CL E G H | 1349 | 309801 | Linear skin defects with multiple congenital anomalies 1 | 309801 | C0796070 | OMIM | 1 | | 181 | 2291 | 300885 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | CRB2 CL E G H | 286204 | 219730 | Ventriculomegaly with cystic kidney disease | 219730 | C1857423 | OMIM | 1 | | 585 | 18688 | 609720 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | CYP26C1 CL E G H | 340665 | 398189 | | | | ORPHA | 1 | | 68 | 20577 | 608428 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | DAG1 CL E G H | 1605 | 899 | | | | ORPHA | 1 | | 630 | 2666 | 128239 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | DAG1 CL E G H | 1605 | 616538 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 | 616538 | C4225291 | OMIM | 1 | | 630 | 2666 | 128239 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | DHCR24 CL E G H | 1718 | 602398 | Desmosterolosis | 602398 | C1865596 | OMIM | 1 | | 291 | 2859 | 606418 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | DHCR7 CL E G H | 1717 | 270400 | Smith-Lemli-Opitz syndrome | 270400 | C0175694 | OMIM | 1 | | 779 | 2860 | 602858 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | DLL4 CL E G H | 54567 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 1 | | 212 | 2910 | 605185 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | DOCK6 CL E G H | 57572 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 1 | | 1080 | 19189 | 614194 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | DOK7 CL E G H | 285489 | 208150 | Pena-Shokeir syndrome type I | 208150 | C1276035 | OMIM | 1 | | 1000 | 26594 | 610285 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | EBP CL E G H | 10682 | 300960 | MEND syndrome | 300960 | C4085243 | OMIM | 1 | | 317 | 3133 | 300205 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | EML1 CL E G H | 2009 | 600348 | Band heterotopia | 600348 | C1838239 | OMIM | 1 | | 170 | 3330 | 602033 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | EOGT CL E G H | 285203 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 1 | | 218 | 28526 | 614789 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 1572 | 3434 | 126340 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 523 | 3435 | 133510 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 726 | 3436 | 133520 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 491 | 3437 | 133530 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | ESCO2 CL E G H | 157570 | 268300 | Roberts-SC phocomelia syndrome | 268300 | C0392475 | OMIM | 1 | | 564 | 27230 | 609353 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FAM111A CL E G H | 63901 | 602361 | Gracile bone dysplasia | 602361 | C1865639 | OMIM | 1 | | 189 | 24725 | 615292 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FANCB CL E G H | 2187 | 3412 | | | | ORPHA | 1 | | 633 | 3583 | 300515 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FANCB CL E G H | 2187 | 314390 | VACTERL association with hydrocephaly, X-linked | 314390 | C1839115 | OMIM | 1 | | 633 | 3583 | 300515 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FBN1 CL E G H | 2200 | 616914 | Marfan lipodystrophy syndrome | 616914 | C4310796 | OMIM | 1 | | 6619 | 3603 | 134797 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FGFR1 CL E G H | 2260 | 613001 | Encephalocraniocutaneous lipomatosis | 613001 | C0406612 | OMIM | 1 | | 936 | 3688 | 136350 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FGFR1 CL E G H | 2260 | 101600 | Pfeiffer syndrome | 101600 | C1863356 | OMIM | 1 | | 936 | 3688 | 136350 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FGFR2 CL E G H | 2263 | 93259 | | | | ORPHA | 1 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FGFR2 CL E G H | 2263 | 101200 | Acrocephalosyndactyly type I | 101200 | C0001193 | OMIM | 1 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FGFR2 CL E G H | 2263 | 207410 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | 207410 | C2936791 | OMIM | 1 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FGFR2 CL E G H | 2263 | 123790 | Cutis Gyrata syndrome of Beare and Stevenson | 123790 | C1852406 | OMIM | 1 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FGFR2 CL E G H | 2263 | 101600 | Pfeiffer syndrome | 101600 | C1863356 | OMIM | 1 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FGFR3 CL E G H | 2261 | 93262 | | | | ORPHA | 1 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FGFR3 CL E G H | 2261 | 616482 | Severe achondroplasia with developmental delay and acanthosis nigricans | 616482 | C2674173 | OMIM | 1 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FGFR3 CL E G H | 2261 | 187600 | Thanatophoric dysplasia type 1 | 187600 | C1868678 | OMIM | 1 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FKRP CL E G H | 79147 | 899 | | | | ORPHA | 1 | | 950 | 17997 | 606596 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FKRP CL E G H | 79147 | 588 | | | | ORPHA | 1 | | 950 | 17997 | 606596 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FKRP CL E G H | 79147 | 613153 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 | 613153 | C3150413 | OMIM | 1 | | 950 | 17997 | 606596 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FKRP CL E G H | 79147 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 950 | 17997 | 606596 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FKTN CL E G H | 2218 | 899 | | | | ORPHA | 1 | | 914 | 3622 | 607440 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FKTN CL E G H | 2218 | 588 | | | | ORPHA | 1 | | 914 | 3622 | 607440 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FKTN CL E G H | 2218 | 253800 | Fukuyama congenital muscular dystrophy | 253800 | C0410174 | OMIM | 1 | | 914 | 3622 | 607440 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FKTN CL E G H | 2218 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 914 | 3622 | 607440 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FKTN CL E G H | 2218 | 272 | VACTERL hydrocephaly | | | ORPHA | 1 | | 914 | 3622 | 607440 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FLNA CL E G H | 2316 | 90652 | | | | ORPHA | 1 | | 3033 | 3754 | 300017 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FLNA CL E G H | 2316 | 304120 | Oto-palato-digital syndrome, type II | 304120 | C1844696 | OMIM | 1 | | 3033 | 3754 | 300017 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FLVCR2 CL E G H | 55640 | 225790 | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome | 225790 | C1856972 | OMIM | 1 | | 196 | 20105 | 610865 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FRAS1 CL E G H | 80144 | 219000 | Cryptophthalmos syndrome | 219000 | C0265233 | OMIM | 1 | | 1287 | 19185 | 607830 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FTO CL E G H | 79068 | 612938 | Growth retardation, developmental delay, coarse facies, and early death | 612938 | C2752001 | OMIM | 1 | | 243 | 24678 | 610966 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | GALC CL E G H | 2581 | 245200 | Galactosylceramide beta-galactosidase deficiency | 245200 | C0023521 | OMIM | 1 | | 1185 | 4115 | 606890 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | GBA CL E G H | 2629 | 2072 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | GBA CL E G H | 2629 | 231005 | Gaucher disease type 3C | 231005 | C1856476 | OMIM | 1 | | | 4177 | 606463 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | GFAP CL E G H | 2670 | 203450 | Alexander's disease | 203450 | C0270726 | OMIM | 1 | | 455 | 4235 | 137780 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | GLI2 CL E G H | 2736 | 610829 | Holoprosencephaly 9 | 610829 | C1835819 | OMIM | 1 | | 832 | 4318 | 165230 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | GMPPB CL E G H | 29925 | 588 | | | | ORPHA | 1 | | 364 | 22932 | 615320 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | GPC3 CL E G H | 2719 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 989 | 4451 | 300037 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | GPC4 CL E G H | 2239 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 243 | 4452 | 300168 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | GPSM2 CL E G H | 29899 | 604213 | Chudley-McCullough syndrome | 604213 | C1858695 | OMIM | 1 | | 279 | 29501 | 609245 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | GUSB CL E G H | 2990 | 253220 | Mucopolysaccharidosis type VII | 253220 | C0085132 | OMIM | 1 | | 414 | 4696 | 611499 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | HBA1 CL E G H | 3039 | 163596 | | | | ORPHA | 1 | | 394 | 4823 | 141800 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | HBA2 CL E G H | 3040 | 163596 | | | | ORPHA | 1 | | 350 | 4824 | 141850 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | HCCS CL E G H | 3052 | 309801 | Linear skin defects with multiple congenital anomalies 1 | 309801 | C0796070 | OMIM | 1 | | 234 | 4837 | 300056 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | HDAC6 CL E G H | 10013 | 163966 | | | | ORPHA | 1 | | 238 | 14064 | 300272 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | HDAC6 CL E G H | 10013 | 300863 | Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia | 300863 | C3275476 | OMIM | 1 | | 238 | 14064 | 300272 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | HRAS CL E G H | 3265 | 218040 | Costello syndrome | 218040 | C0587248 | OMIM | 1 | | 622 | 5173 | 190020 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | HYLS1 CL E G H | 219844 | 2189 | | | | ORPHA | 1 | | 314 | 26558 | 610693 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | ICK CL E G H | 22858 | 612651 | Endocrine-cerebroosteodysplasia | 612651 | C2675227 | OMIM | 1 | | | 21219 | 612325 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | IDS CL E G H | 3423 | 309900 | Mucopolysaccharidosis, MPS-II | 309900 | C0026705 | OMIM | 1 | | 931 | 5389 | 300823 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | IDUA CL E G H | 3425 | 93473 | | | | ORPHA | 1 | | 1788 | 5391 | 252800 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | IDUA CL E G H | 3425 | 607014 | Dysostosis multiplex | 607014 | C0086795 | OMIM | 1 | | 1788 | 5391 | 252800 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | IFT43 CL E G H | 112752 | 617866 | SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY | 617866 | CN795020 | OMIM | 1 | | 257 | 29669 | 614068 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | ISPD CL E G H | 729920 | 899 | | | | ORPHA | 1 | | 733 | 37276 | 614631 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | ISPD CL E G H | 729920 | 614643 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 | 614643 | C3553330 | OMIM | 1 | | 733 | 37276 | 614631 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | KDM6A CL E G H | 7403 | 2322 | | | | ORPHA | 1 | | 916 | 12637 | 300128 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | KIAA0586 CL E G H | 9786 | 616546 | Short-rib thoracic dysplasia 14 with polydactyly | 616546 | C4225286 | OMIM | 1 | | 1253 | 19960 | 610178 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | KIAA1109 CL E G H | 84162 | 617822 | ALKURAYA-KUCINSKAS SYNDROME | 617822 | CN737163 | OMIM | 1 | | | 26953 | 611565 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 2622 | 888 | 601255 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | KIF7 CL E G H | 374654 | 2189 | | | | ORPHA | 1 | | 1401 | 30497 | 611254 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | KIF7 CL E G H | 374654 | 614120 | Hydrolethalus syndrome 2 | 614120 | C3279899 | OMIM | 1 | | 1401 | 30497 | 611254 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | KMT2D CL E G H | 8085 | 2322 | | | | ORPHA | 1 | | 4323 | 7133 | 602113 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | L1CAM CL E G H | 3897 | 2182 | | | | ORPHA | 1 | | 968 | 6470 | 308840 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | L1CAM CL E G H | 3897 | 304100 | Corpus callosum, partial agenesis of, X-linked | 304100 | C1839909 | OMIM | 1 | | 968 | 6470 | 308840 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | L1CAM CL E G H | 3897 | 303350 | Spastic paraplegia 1 | 303350 | C0795953 | OMIM | 1 | | 968 | 6470 | 308840 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | L1CAM CL E G H | 3897 | 307000 | X-linked hydrocephalus syndrome | 307000 | C0265216 | OMIM | 1 | | 968 | 6470 | 308840 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | LAMB1 CL E G H | 3912 | 615191 | Lissencephaly 5 | 615191 | C3554657 | OMIM | 1 | | 767 | 6486 | 150240 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | LARGE1 CL E G H | 9215 | 588 | | | | ORPHA | 1 | | 786 | 6511 | 603590 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | LARGE1 CL E G H | 9215 | 899 | | | | ORPHA | 1 | | 786 | 6511 | 603590 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | LARGE1 CL E G H | 9215 | 613154 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 | 613154 | C3150414 | OMIM | 1 | | 786 | 6511 | 603590 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | LARGE1 CL E G H | 9215 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 786 | 6511 | 603590 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | MBTPS2 CL E G H | 51360 | 85284 | | | | ORPHA | 1 | | 309 | 15455 | 300294 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | MED12 CL E G H | 9968 | 305450 | FG syndrome | 305450 | C0220769 | OMIM | 1 | | 1573 | 11957 | 300188 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | MKS1 CL E G H | 54903 | 249000 | Meckel syndrome type 1 | 249000 | C3714506 | OMIM | 1 | | 839 | 7121 | 609883 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | MMACHC CL E G H | 25974 | 79282 | | | | ORPHA | 1 | | 524 | 24525 | 609831 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | MMACHC CL E G H | 25974 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 524 | 24525 | 609831 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | MTM1 CL E G H | 4534 | 310400 | Severe X-linked myotubular myopathy | 310400 | C0410203 | OMIM | 1 | | 807 | 7448 | 300415 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | MUSK CL E G H | 4593 | 208150 | Pena-Shokeir syndrome type I | 208150 | C1276035 | OMIM | 1 | | 620 | 7525 | 601296 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | NDUFB11 CL E G H | 54539 | 309801 | Linear skin defects with multiple congenital anomalies 1 | 309801 | C0796070 | OMIM | 1 | | 209 | 20372 | 300403 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | NF1 CL E G H | 4763 | 162200 | Neurofibromatosis, type 1 | 162200 | C0027831 | OMIM | 1 | | 12392 | 7765 | 613113 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | NOTCH1 CL E G H | 4851 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 1 | | 3187 | 7881 | 190198 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | NOTCH2 CL E G H | 4853 | 102500 | Hajdu-Cheney syndrome | 102500 | C0917715 | OMIM | 1 | | 1122 | 7882 | 600275 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | OFD1 CL E G H | 8481 | 311200 | Oral-facial-digital syndrome | 311200 | C1510460 | OMIM | 1 | | 1020 | 2567 | 300170 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | OGDH CL E G H | 4967 | 31 | Serpiginous choroiditis | | | ORPHA | 1 | | 171 | 8124 | 613022 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | OSTM1 CL E G H | 28962 | 259720 | Osteopetrosis, autosomal recessive 5 | 259720 | C1968603 | OMIM | 1 | | 271 | 21652 | 607649 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | P4HB CL E G H | 5034 | 112240 | Cole-Carpenter syndrome 1 | 112240 | C4317154 | OMIM | 1 | | 242 | 8548 | 176790 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | PEX19 CL E G H | 5824 | 614886 | Peroxisome biogenesis disorder 12A | 614886 | C3554002 | OMIM | 1 | | 379 | 9713 | 600279 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | PIK3CA CL E G H | 5290 | 60040 | | | | ORPHA | 1 | | 1159 | 8975 | 171834 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | PIK3CA CL E G H | 5290 | 602501 | Megalencephaly cutis marmorata telangiectatica congenita | 602501 | C1865285 | OMIM | 1 | | 1159 | 8975 | 171834 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | PIK3R2 CL E G H | 5296 | 83473 | | | | ORPHA | 1 | | 355 | 8980 | 603157 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | PIK3R2 CL E G H | 5296 | 603387 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 603387 | C1863924 | OMIM | 1 | | 355 | 8980 | 603157 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | PLG CL E G H | 5340 | 217090 | Plasminogen deficiency, type I | 217090 | C1968804 | OMIM | 1 | | 297 | 9071 | 173350 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | POMGNT1 CL E G H | 55624 | 899 | | | | ORPHA | 1 | | 1174 | 19139 | 606822 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | POMGNT1 CL E G H | 55624 | 588 | | | | ORPHA | 1 | | 1174 | 19139 | 606822 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | POMGNT1 CL E G H | 55624 | 253280 | Muscle eye brain disease | 253280 | C0457133 | OMIM | 1 | | 1174 | 19139 | 606822 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | POMGNT2 CL E G H | 84892 | 899 | | | | ORPHA | 1 | | 416 | 25902 | 614828 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | POMGNT2 CL E G H | 84892 | 614830 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 614830 | C3553813 | OMIM | 1 | | 416 | 25902 | 614828 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | POMK CL E G H | 84197 | 899 | | | | ORPHA | 1 | | 307 | 26267 | 615247 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | POMT1 CL E G H | 10585 | 588 | | | | ORPHA | 1 | | 906 | 9202 | 607423 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | POMT1 CL E G H | 10585 | 899 | | | | ORPHA | 1 | | 906 | 9202 | 607423 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | POMT1 CL E G H | 10585 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 906 | 9202 | 607423 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | POMT2 CL E G H | 29954 | 588 | | | | ORPHA | 1 | | 936 | 19743 | 607439 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | POMT2 CL E G H | 29954 | 899 | | | | ORPHA | 1 | | 936 | 19743 | 607439 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | POMT2 CL E G H | 29954 | 613150 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | 613150 | C3150411 | OMIM | 1 | | 936 | 19743 | 607439 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | POMT2 CL E G H | 29954 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 936 | 19743 | 607439 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | POR CL E G H | 5447 | 207410 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | 207410 | C2936791 | OMIM | 1 | | 512 | 9208 | 124015 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | PORCN CL E G H | 64840 | 305600 | Focal dermal hypoplasia | 305600 | C0016395 | OMIM | 1 | | 288 | 17652 | 300651 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | PPP1CB CL E G H | 5500 | 2701 | Noonan syndrome-like disorder with loose anagen hair | | C3501846 | ORPHA | 1 | | 215 | 9282 | 600590 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | PPP2R1A CL E G H | 5518 | 616362 | Mental retardation, autosomal dominant 36 | 616362 | C4225352 | OMIM | 1 | | 358 | 9302 | 605983 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | PPP2R5D CL E G H | 5528 | 616355 | Mental retardation, autosomal dominant 35 | 616355 | C4225354 | OMIM | 1 | | 397 | 9312 | 601646 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | PRDX1 CL E G H | 5052 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 64 | 9352 | 176763 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | PRKAR1A CL E G H | 5573 | 101800 | Acrodysostosis 1 with or without hormone resistance | 101800 | C3276228 | OMIM | 1 | | 1131 | 9388 | 188830 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | PTCH1 CL E G H | 5727 | 77301 | | | | ORPHA | 1 | | 4487 | 9585 | 601309 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | PTCH1 CL E G H | 5727 | 109400 | Gorlin syndrome | 109400 | C0004779 | OMIM | 1 | | 4487 | 9585 | 601309 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | PTCH1 CL E G H | 5727 | 610828 | Holoprosencephaly 7 | 610828 | C1835820 | OMIM | 1 | | 4487 | 9585 | 601309 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | PTCH2 CL E G H | 8643 | 109400 | Gorlin syndrome | 109400 | C0004779 | OMIM | 1 | | 791 | 9586 | 603673 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | PTEN CL E G H | 5728 | 65285 | | | | ORPHA | 1 | | 3012 | 9588 | 601728 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | PYCR1 CL E G H | 5831 | 612940 | Autosomal recessive cutis laxa type 2B | 612940 | C2751987 | OMIM | 1 | | 287 | 9721 | 179035 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | RAD51 CL E G H | 5888 | 617244 | Fanconi anemia, complementation group R | 617244 | C4284093 | OMIM | 1 | | 358 | 9817 | 179617 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | RAP1A CL E G H | 5906 | 2322 | | | | ORPHA | 1 | | 41 | 9855 | 179520 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | RAP1B CL E G H | 5908 | 2322 | | | | ORPHA | 1 | | 35 | 9857 | 179530 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | RAPSN CL E G H | 5913 | 208150 | Pena-Shokeir syndrome type I | 208150 | C1276035 | OMIM | 1 | | 562 | 9863 | 601592 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | RBPJ CL E G H | 3516 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 1 | | 186 | 5724 | 147183 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | RECQL4 CL E G H | 9401 | 218600 | Baller-Gerold syndrome | 218600 | C0265308 | OMIM | 1 | | 4259 | 9949 | 603780 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | RNASEH2A CL E G H | 10535 | 610333 | Aicardi Goutieres syndrome 4 | 610333 | C1835912 | OMIM | 1 | | 404 | 18518 | 606034 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | RNF125 CL E G H | 54941 | 616260 | Tenorio syndrome | 616260 | C4015710 | OMIM | 1 | | 107 | 21150 | 610432 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | RSPO2 CL E G H | 340419 | 3301 | Lowry syndrome | | | ORPHA | 1 | | 90 | 28583 | 610575 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | RXYLT1 CL E G H | 10329 | 899 | | | | ORPHA | 1 | | 273 | 13530 | 605862 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | SEC24D CL E G H | 9871 | 616294 | Cole-Carpenter syndrome 2 | 616294 | C4225382 | OMIM | 1 | | 416 | 10706 | 607186 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | SF3B4 CL E G H | 10262 | 154400 | Nager syndrome | 154400 | C0265245 | OMIM | 1 | | 105 | 10771 | 605593 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | SHOC2 CL E G H | 8036 | 2701 | Noonan syndrome-like disorder with loose anagen hair | | C3501846 | ORPHA | 1 | | 452 | 15454 | 602775 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | SIK3 CL E G H | 23387 | 618162 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE | 618162 | | OMIM | 1 | | 86 | 29165 | 614776 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | SLC17A5 CL E G H | 26503 | 269920 | Sialic acid storage disease, severe infantile type | 269920 | C1096902 | OMIM | 1 | | 520 | 10933 | 604322 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | SLC25A24 CL E G H | 29957 | 612289 | Fontaine progeroid syndrome | 612289 | C2676780 | OMIM | 1 | | 123 | 20662 | 608744 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | SMARCB1 CL E G H | 6598 | 99966 | | | | ORPHA | 1 | | 1043 | 11103 | 601607 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | SNX10 CL E G H | 29887 | 667 | | | | ORPHA | 1 | | 147 | 14974 | 614780 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | SOX9 CL E G H | 6662 | 114290 | Camptomelic dysplasia | 114290 | C1861922 | OMIM | 1 | | 363 | 11204 | 608160 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | SUFU CL E G H | 51684 | 109400 | Gorlin syndrome | 109400 | C0004779 | OMIM | 1 | | 1306 | 16466 | 607035 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | SUMF1 CL E G H | 285362 | 585 | | | | ORPHA | 1 | | 746 | 20376 | 607939 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | SUMF1 CL E G H | 285362 | 272200 | Multiple sulfatase deficiency | 272200 | C0268263 | OMIM | 1 | | 746 | 20376 | 607939 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | TBX15 CL E G H | 6913 | 260660 | Cousin syndrome | 260660 | C1850040 | OMIM | 1 | | 186 | 11594 | 604127 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | TCIRG1 CL E G H | 10312 | 667 | | | | ORPHA | 1 | | 1157 | 11647 | 604592 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | TCIRG1 CL E G H | 10312 | 259700 | Osteopetrosis autosomal recessive 1 | 259700 | C1850127 | OMIM | 1 | | 1157 | 11647 | 604592 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | TMEM237 CL E G H | 65062 | 614424 | Joubert syndrome 14 | 614424 | C3280766 | OMIM | 1 | | 466 | 14432 | 614423 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | TNFRSF11A CL E G H | 8792 | 612301 | Osteopetrosis autosomal recessive 7 | 612301 | C2676766 | OMIM | 1 | | 572 | 11908 | 603499 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | TNFSF11 CL E G H | 8600 | 667 | | | | ORPHA | 1 | | 246 | 11926 | 602642 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | TP53 CL E G H | 7157 | 2807 | | | | ORPHA | 1 | | 2977 | 11998 | 191170 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | VANGL2 CL E G H | 57216 | 182940 | Neural tube defect | 182940 | C0027794 | OMIM | 1 | | 38 | 15511 | 600533 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | VHL CL E G H | 7428 | 892 | Billet Bear syndrome | | | ORPHA | 1 | | 1805 | 12687 | 608537 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | VSX1 CL E G H | 30813 | 614195 | Craniofacial anomalies and anterior segment dysgenesis syndrome | 614195 | C3280099 | OMIM | 1 | | 130 | 12723 | 605020 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | WASHC5 CL E G H | 9897 | 220210 | Dandy-Walker like malformation with atrioventricular septal defect | 220210 | C0796137 | OMIM | 1 | | 638 | 28984 | 610657 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | WASHC5 CL E G H | 9897 | 7 | Typical Joubert syndrome MRI findings | | CN228298 | ORPHA | 1 | | 638 | 28984 | 610657 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | WDR81 CL E G H | 124997 | 617967 | HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES | 617967 | CN252328 | OMIM | 1 | | 420 | 26600 | 614218 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | WNT3 CL E G H | 7473 | 3301 | Lowry syndrome | | | ORPHA | 1 | | 102 | 12782 | 165330 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | WNT3 CL E G H | 7473 | 273395 | Tetraamelia, autosomal recessive | 273395 | C4012268 | OMIM | 1 | | 102 | 12782 | 165330 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | ZBTB20 CL E G H | 26137 | 3042 | | | | ORPHA | 1 | | 252 | 13503 | 606025 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | ZIC2 CL E G H | 7546 | 609637 | Holoprosencephaly 5 | 609637 | C1864827 | OMIM | 1 | | 360 | 12873 | 603073 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | ZIC3 CL E G H | 7547 | 314390 | VACTERL association with hydrocephaly, X-linked | 314390 | C1839115 | OMIM | 1 | | 301 | 12874 | 300265 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | ZNHIT3 CL E G H | 9326 | 2836 | | | | ORPHA | 1 | | 136 | 12309 | 604500 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | AKT3 CL E G H | 10000 | 83473 | | | | ORPHA | 1 | | 321 | 393 | 611223 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | AKT3 CL E G H | 10000 | 83473 | | | | ORPHA | 1 | | 321 | 393 | 611223 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | AKT3 CL E G H | 10000 | 83473 | | | | ORPHA | 1 | | 321 | 393 | 611223 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | AKT3 CL E G H | 10000 | 83473 | | | | ORPHA | 1 | | 321 | 393 | 611223 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | AKT3 CL E G H | 10000 | 615937 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 615937 | C4014738 | OMIM | 1 | | 321 | 393 | 611223 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | AKT3 CL E G H | 10000 | 615937 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 615937 | C4014738 | OMIM | 1 | | 321 | 393 | 611223 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | AKT3 CL E G H | 10000 | 615937 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 615937 | C4014738 | OMIM | 1 | | 321 | 393 | 611223 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | AKT3 CL E G H | 10000 | 615937 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 615937 | C4014738 | OMIM | 1 | | 321 | 393 | 611223 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | AMER1 CL E G H | 139285 | 300373 | Osteopathia striata with cranial sclerosis | 300373 | C0432268 | OMIM | 1 | | 450 | 26837 | 300647 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | AMER1 CL E G H | 139285 | 300373 | Osteopathia striata with cranial sclerosis | 300373 | C0432268 | OMIM | 1 | | 450 | 26837 | 300647 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | AMER1 CL E G H | 139285 | 300373 | Osteopathia striata with cranial sclerosis | 300373 | C0432268 | OMIM | 1 | | 450 | 26837 | 300647 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | AMER1 CL E G H | 139285 | 300373 | Osteopathia striata with cranial sclerosis | 300373 | C0432268 | OMIM | 1 | | 450 | 26837 | 300647 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | AP1S2 CL E G H | 8905 | 85335 | | | | ORPHA | 1 | | 241 | 560 | 300629 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | AP1S2 CL E G H | 8905 | 85335 | | | | ORPHA | 1 | | 241 | 560 | 300629 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | AP1S2 CL E G H | 8905 | 85335 | | | | ORPHA | 1 | | 241 | 560 | 300629 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | AP1S2 CL E G H | 8905 | 85335 | | | | ORPHA | 1 | | 241 | 560 | 300629 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | ARHGAP31 CL E G H | 57514 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 1 | | 394 | 29216 | 610911 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | ARHGAP31 CL E G H | 57514 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 1 | | 394 | 29216 | 610911 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | ARHGAP31 CL E G H | 57514 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 1 | | 394 | 29216 | 610911 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | ARHGAP31 CL E G H | 57514 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 1 | | 394 | 29216 | 610911 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | ARSB CL E G H | 411 | 253200 | Mucopolysaccharidosis type VI | 253200 | C0026709 | OMIM | 1 | | 820 | 714 | 611542 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | ARSB CL E G H | 411 | 253200 | Mucopolysaccharidosis type VI | 253200 | C0026709 | OMIM | 1 | | 820 | 714 | 611542 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | ARSB CL E G H | 411 | 253200 | Mucopolysaccharidosis type VI | 253200 | C0026709 | OMIM | 1 | | 820 | 714 | 611542 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | ARSB CL E G H | 411 | 253200 | Mucopolysaccharidosis type VI | 253200 | C0026709 | OMIM | 1 | | 820 | 714 | 611542 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | B3GALNT2 CL E G H | 148789 | 899 | | | | ORPHA | 1 | | 587 | 28596 | 610194 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | B3GALNT2 CL E G H | 148789 | 588 | | | | ORPHA | 1 | | 587 | 28596 | 610194 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | B3GALNT2 CL E G H | 148789 | 899 | | | | ORPHA | 1 | | 587 | 28596 | 610194 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | B3GALNT2 CL E G H | 148789 | 588 | | | | ORPHA | 1 | | 587 | 28596 | 610194 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | B3GALNT2 CL E G H | 148789 | 899 | | | | ORPHA | 1 | | 587 | 28596 | 610194 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | B3GALNT2 CL E G H | 148789 | 588 | | | | ORPHA | 1 | | 587 | 28596 | 610194 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | B3GALNT2 CL E G H | 148789 | 899 | | | | ORPHA | 1 | | 587 | 28596 | 610194 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | B3GALNT2 CL E G H | 148789 | 588 | | | | ORPHA | 1 | | 587 | 28596 | 610194 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | B3GALNT2 CL E G H | 148789 | 615181 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 615181 | C3554638 | OMIM | 1 | | 587 | 28596 | 610194 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | B3GALNT2 CL E G H | 148789 | 615181 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 615181 | C3554638 | OMIM | 1 | | 587 | 28596 | 610194 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | B3GALNT2 CL E G H | 148789 | 615181 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 615181 | C3554638 | OMIM | 1 | | 587 | 28596 | 610194 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | B3GALNT2 CL E G H | 148789 | 615181 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 615181 | C3554638 | OMIM | 1 | | 587 | 28596 | 610194 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | B3GAT3 CL E G H | 26229 | 245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | 245600 | C3278404 | OMIM | 1 | | 219 | 923 | 606374 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | B3GAT3 CL E G H | 26229 | 245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | 245600 | C3278404 | OMIM | 1 | | 219 | 923 | 606374 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | B3GAT3 CL E G H | 26229 | 245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | 245600 | C3278404 | OMIM | 1 | | 219 | 923 | 606374 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | B3GAT3 CL E G H | 26229 | 245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | 245600 | C3278404 | OMIM | 1 | | 219 | 923 | 606374 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | B3GLCT CL E G H | 145173 | 709 | | | | ORPHA | 1 | | 310 | 20207 | 610308 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | B3GLCT CL E G H | 145173 | 709 | | | | ORPHA | 1 | | 310 | 20207 | 610308 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | B3GLCT CL E G H | 145173 | 709 | | | | ORPHA | 1 | | 310 | 20207 | 610308 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | B3GLCT CL E G H | 145173 | 709 | | | | ORPHA | 1 | | 310 | 20207 | 610308 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | B3GLCT CL E G H | 145173 | 261540 | Peters plus syndrome | 261540 | C0796012 | OMIM | 1 | | 310 | 20207 | 610308 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | B3GLCT CL E G H | 145173 | 261540 | Peters plus syndrome | 261540 | C0796012 | OMIM | 1 | | 310 | 20207 | 610308 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | B3GLCT CL E G H | 145173 | 261540 | Peters plus syndrome | 261540 | C0796012 | OMIM | 1 | | 310 | 20207 | 610308 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | B3GLCT CL E G H | 145173 | 261540 | Peters plus syndrome | 261540 | C0796012 | OMIM | 1 | | 310 | 20207 | 610308 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | B4GALT1 CL E G H | 2683 | 79332 | | | | ORPHA | 1 | | 184 | 924 | 137060 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | B4GALT1 CL E G H | 2683 | 79332 | | | | ORPHA | 1 | | 184 | 924 | 137060 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | B4GALT1 CL E G H | 2683 | 79332 | | | | ORPHA | 1 | | 184 | 924 | 137060 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | B4GALT1 CL E G H | 2683 | 79332 | | | | ORPHA | 1 | | 184 | 924 | 137060 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | B4GAT1 CL E G H | 11041 | 899 | | | | ORPHA | 1 | | 205 | 15685 | 605517 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | B4GAT1 CL E G H | 11041 | 899 | | | | ORPHA | 1 | | 205 | 15685 | 605517 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | B4GAT1 CL E G H | 11041 | 899 | | | | ORPHA | 1 | | 205 | 15685 | 605517 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | B4GAT1 CL E G H | 11041 | 899 | | | | ORPHA | 1 | | 205 | 15685 | 605517 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | B4GAT1 CL E G H | 11041 | 615287 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 | 615287 | C3809042 | OMIM | 1 | | 205 | 15685 | 605517 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | B4GAT1 CL E G H | 11041 | 615287 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 | 615287 | C3809042 | OMIM | 1 | | 205 | 15685 | 605517 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | B4GAT1 CL E G H | 11041 | 615287 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 | 615287 | C3809042 | OMIM | 1 | | 205 | 15685 | 605517 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | B4GAT1 CL E G H | 11041 | 615287 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 | 615287 | C3809042 | OMIM | 1 | | 205 | 15685 | 605517 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | BRAF CL E G H | 673 | 115150 | Cardiofaciocutaneous syndrome 1 | 115150 | CN029449 | OMIM | 1 | | 1182 | 1097 | 164757 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | BRAF CL E G H | 673 | 115150 | Cardiofaciocutaneous syndrome 1 | 115150 | CN029449 | OMIM | 1 | | 1182 | 1097 | 164757 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | BRAF CL E G H | 673 | 115150 | Cardiofaciocutaneous syndrome 1 | 115150 | CN029449 | OMIM | 1 | | 1182 | 1097 | 164757 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | BRAF CL E G H | 673 | 115150 | Cardiofaciocutaneous syndrome 1 | 115150 | CN029449 | OMIM | 1 | | 1182 | 1097 | 164757 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | BUB1B CL E G H | 701 | 257300 | Mosaic variegated aneuploidy syndrome 1 | 257300 | CN031748 | OMIM | 1 | | 1529 | 1149 | 602860 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | BUB1B CL E G H | 701 | 257300 | Mosaic variegated aneuploidy syndrome 1 | 257300 | CN031748 | OMIM | 1 | | 1529 | 1149 | 602860 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | BUB1B CL E G H | 701 | 257300 | Mosaic variegated aneuploidy syndrome 1 | 257300 | CN031748 | OMIM | 1 | | 1529 | 1149 | 602860 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | BUB1B CL E G H | 701 | 257300 | Mosaic variegated aneuploidy syndrome 1 | 257300 | CN031748 | OMIM | 1 | | 1529 | 1149 | 602860 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | CCDC22 CL E G H | 28952 | 7 | Typical Joubert syndrome MRI findings | | CN228298 | ORPHA | 1 | | 294 | 28909 | 300859 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | CCDC22 CL E G H | 28952 | 7 | Typical Joubert syndrome MRI findings | | CN228298 | ORPHA | 1 | | 294 | 28909 | 300859 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | CCDC22 CL E G H | 28952 | 7 | Typical Joubert syndrome MRI findings | | CN228298 | ORPHA | 1 | | 294 | 28909 | 300859 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | CCDC22 CL E G H | 28952 | 7 | Typical Joubert syndrome MRI findings | | CN228298 | ORPHA | 1 | | 294 | 28909 | 300859 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | CCDC88C CL E G H | 440193 | 236600 | Congenital hydrocephalus 1 | 236600 | C3887608 | OMIM | 1 | | 586 | 19967 | 611204 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | CCDC88C CL E G H | 440193 | 236600 | Congenital hydrocephalus 1 | 236600 | C3887608 | OMIM | 1 | | 586 | 19967 | 611204 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | CCDC88C CL E G H | 440193 | 236600 | Congenital hydrocephalus 1 | 236600 | C3887608 | OMIM | 1 | | 586 | 19967 | 611204 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | CCDC88C CL E G H | 440193 | 236600 | Congenital hydrocephalus 1 | 236600 | C3887608 | OMIM | 1 | | 586 | 19967 | 611204 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | CCND2 CL E G H | 894 | 83473 | | | | ORPHA | 1 | | 156 | 1583 | 123833 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | CCND2 CL E G H | 894 | 83473 | | | | ORPHA | 1 | | 156 | 1583 | 123833 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | CCND2 CL E G H | 894 | 83473 | | | | ORPHA | 1 | | 156 | 1583 | 123833 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | CCND2 CL E G H | 894 | 83473 | | | | ORPHA | 1 | | 156 | 1583 | 123833 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | CCND2 CL E G H | 894 | 615938 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | 615938 | C4014742 | OMIM | 1 | | 156 | 1583 | 123833 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | CCND2 CL E G H | 894 | 615938 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | 615938 | C4014742 | OMIM | 1 | | 156 | 1583 | 123833 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | CCND2 CL E G H | 894 | 615938 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | 615938 | C4014742 | OMIM | 1 | | 156 | 1583 | 123833 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | CCND2 CL E G H | 894 | 615938 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | 615938 | C4014742 | OMIM | 1 | | 156 | 1583 | 123833 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | CENPF CL E G H | 1063 | 243605 | Stromme syndrome | 243605 | C1855705 | OMIM | 1 | | 554 | 1857 | 600236 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | CENPF CL E G H | 1063 | 243605 | Stromme syndrome | 243605 | C1855705 | OMIM | 1 | | 554 | 1857 | 600236 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | CENPF CL E G H | 1063 | 243605 | Stromme syndrome | 243605 | C1855705 | OMIM | 1 | | 554 | 1857 | 600236 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | CENPF CL E G H | 1063 | 243605 | Stromme syndrome | 243605 | C1855705 | OMIM | 1 | | 554 | 1857 | 600236 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | CHST3 CL E G H | 9469 | 245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | 245600 | C3278404 | OMIM | 1 | | 445 | 1971 | 603799 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | CHST3 CL E G H | 9469 | 245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | 245600 | C3278404 | OMIM | 1 | | 445 | 1971 | 603799 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | CHST3 CL E G H | 9469 | 245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | 245600 | C3278404 | OMIM | 1 | | 445 | 1971 | 603799 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | CHST3 CL E G H | 9469 | 245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | 245600 | C3278404 | OMIM | 1 | | 445 | 1971 | 603799 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | CLCN7 CL E G H | 1186 | 667 | | | | ORPHA | 1 | | 1009 | 2025 | 602727 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | CLCN7 CL E G H | 1186 | 667 | | | | ORPHA | 1 | | 1009 | 2025 | 602727 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | CLCN7 CL E G H | 1186 | 667 | | | | ORPHA | 1 | | 1009 | 2025 | 602727 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | CLCN7 CL E G H | 1186 | 667 | | | | ORPHA | 1 | | 1009 | 2025 | 602727 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | COL18A1 CL E G H | 80781 | 1571 | | | | ORPHA | 1 | | 2717 | 2195 | 120328 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | COL18A1 CL E G H | 80781 | 1571 | | | | ORPHA | 1 | | 2717 | 2195 | 120328 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | COL18A1 CL E G H | 80781 | 1571 | | | | ORPHA | 1 | | 2717 | 2195 | 120328 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | COL18A1 CL E G H | 80781 | 1571 | | | | ORPHA | 1 | | 2717 | 2195 | 120328 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | COL4A1 CL E G H | 1282 | 899 | | | | ORPHA | 1 | | 1785 | 2202 | 120130 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | COL4A1 CL E G H | 1282 | 899 | | | | ORPHA | 1 | | 1785 | 2202 | 120130 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | COL4A1 CL E G H | 1282 | 899 | | | | ORPHA | 1 | | 1785 | 2202 | 120130 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | COL4A1 CL E G H | 1282 | 899 | | | | ORPHA | 1 | | 1785 | 2202 | 120130 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | COL4A1 CL E G H | 1282 | 175780 | Porencephaly 1 | 175780 | CN032791 | OMIM | 1 | | 1785 | 2202 | 120130 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | COL4A1 CL E G H | 1282 | 175780 | Porencephaly 1 | 175780 | CN032791 | OMIM | 1 | | 1785 | 2202 | 120130 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | COL4A1 CL E G H | 1282 | 175780 | Porencephaly 1 | 175780 | CN032791 | OMIM | 1 | | 1785 | 2202 | 120130 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | COL4A1 CL E G H | 1282 | 175780 | Porencephaly 1 | 175780 | CN032791 | OMIM | 1 | | 1785 | 2202 | 120130 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | COX7B CL E G H | 1349 | 309801 | Linear skin defects with multiple congenital anomalies 1 | 309801 | C0796070 | OMIM | 1 | | 181 | 2291 | 300885 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | COX7B CL E G H | 1349 | 309801 | Linear skin defects with multiple congenital anomalies 1 | 309801 | C0796070 | OMIM | 1 | | 181 | 2291 | 300885 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | COX7B CL E G H | 1349 | 309801 | Linear skin defects with multiple congenital anomalies 1 | 309801 | C0796070 | OMIM | 1 | | 181 | 2291 | 300885 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | COX7B CL E G H | 1349 | 309801 | Linear skin defects with multiple congenital anomalies 1 | 309801 | C0796070 | OMIM | 1 | | 181 | 2291 | 300885 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | CRB2 CL E G H | 286204 | 219730 | Ventriculomegaly with cystic kidney disease | 219730 | C1857423 | OMIM | 1 | | 585 | 18688 | 609720 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | CRB2 CL E G H | 286204 | 219730 | Ventriculomegaly with cystic kidney disease | 219730 | C1857423 | OMIM | 1 | | 585 | 18688 | 609720 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | CRB2 CL E G H | 286204 | 219730 | Ventriculomegaly with cystic kidney disease | 219730 | C1857423 | OMIM | 1 | | 585 | 18688 | 609720 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | CRB2 CL E G H | 286204 | 219730 | Ventriculomegaly with cystic kidney disease | 219730 | C1857423 | OMIM | 1 | | 585 | 18688 | 609720 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | CYP26C1 CL E G H | 340665 | 398189 | | | | ORPHA | 1 | | 68 | 20577 | 608428 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | CYP26C1 CL E G H | 340665 | 398189 | | | | ORPHA | 1 | | 68 | 20577 | 608428 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | CYP26C1 CL E G H | 340665 | 398189 | | | | ORPHA | 1 | | 68 | 20577 | 608428 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | CYP26C1 CL E G H | 340665 | 398189 | | | | ORPHA | 1 | | 68 | 20577 | 608428 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | DAG1 CL E G H | 1605 | 899 | | | | ORPHA | 1 | | 630 | 2666 | 128239 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | DAG1 CL E G H | 1605 | 899 | | | | ORPHA | 1 | | 630 | 2666 | 128239 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | DAG1 CL E G H | 1605 | 899 | | | | ORPHA | 1 | | 630 | 2666 | 128239 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | DAG1 CL E G H | 1605 | 899 | | | | ORPHA | 1 | | 630 | 2666 | 128239 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | DAG1 CL E G H | 1605 | 616538 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 | 616538 | C4225291 | OMIM | 1 | | 630 | 2666 | 128239 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | DAG1 CL E G H | 1605 | 616538 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 | 616538 | C4225291 | OMIM | 1 | | 630 | 2666 | 128239 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | DAG1 CL E G H | 1605 | 616538 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 | 616538 | C4225291 | OMIM | 1 | | 630 | 2666 | 128239 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | DAG1 CL E G H | 1605 | 616538 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 | 616538 | C4225291 | OMIM | 1 | | 630 | 2666 | 128239 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | DHCR24 CL E G H | 1718 | 602398 | Desmosterolosis | 602398 | C1865596 | OMIM | 1 | | 291 | 2859 | 606418 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | DHCR24 CL E G H | 1718 | 602398 | Desmosterolosis | 602398 | C1865596 | OMIM | 1 | | 291 | 2859 | 606418 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | DHCR24 CL E G H | 1718 | 602398 | Desmosterolosis | 602398 | C1865596 | OMIM | 1 | | 291 | 2859 | 606418 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | DHCR24 CL E G H | 1718 | 602398 | Desmosterolosis | 602398 | C1865596 | OMIM | 1 | | 291 | 2859 | 606418 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | DHCR7 CL E G H | 1717 | 270400 | Smith-Lemli-Opitz syndrome | 270400 | C0175694 | OMIM | 1 | | 779 | 2860 | 602858 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | DHCR7 CL E G H | 1717 | 270400 | Smith-Lemli-Opitz syndrome | 270400 | C0175694 | OMIM | 1 | | 779 | 2860 | 602858 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | DHCR7 CL E G H | 1717 | 270400 | Smith-Lemli-Opitz syndrome | 270400 | C0175694 | OMIM | 1 | | 779 | 2860 | 602858 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | DHCR7 CL E G H | 1717 | 270400 | Smith-Lemli-Opitz syndrome | 270400 | C0175694 | OMIM | 1 | | 779 | 2860 | 602858 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | DLL4 CL E G H | 54567 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 1 | | 212 | 2910 | 605185 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | DLL4 CL E G H | 54567 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 1 | | 212 | 2910 | 605185 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | DLL4 CL E G H | 54567 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 1 | | 212 | 2910 | 605185 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | DLL4 CL E G H | 54567 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 1 | | 212 | 2910 | 605185 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | DOCK6 CL E G H | 57572 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 1 | | 1080 | 19189 | 614194 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | DOCK6 CL E G H | 57572 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 1 | | 1080 | 19189 | 614194 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | DOCK6 CL E G H | 57572 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 1 | | 1080 | 19189 | 614194 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | DOCK6 CL E G H | 57572 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 1 | | 1080 | 19189 | 614194 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | DOK7 CL E G H | 285489 | 208150 | Pena-Shokeir syndrome type I | 208150 | C1276035 | OMIM | 1 | | 1000 | 26594 | 610285 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | DOK7 CL E G H | 285489 | 208150 | Pena-Shokeir syndrome type I | 208150 | C1276035 | OMIM | 1 | | 1000 | 26594 | 610285 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | DOK7 CL E G H | 285489 | 208150 | Pena-Shokeir syndrome type I | 208150 | C1276035 | OMIM | 1 | | 1000 | 26594 | 610285 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | DOK7 CL E G H | 285489 | 208150 | Pena-Shokeir syndrome type I | 208150 | C1276035 | OMIM | 1 | | 1000 | 26594 | 610285 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | EBP CL E G H | 10682 | 300960 | MEND syndrome | 300960 | C4085243 | OMIM | 1 | | 317 | 3133 | 300205 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | EBP CL E G H | 10682 | 300960 | MEND syndrome | 300960 | C4085243 | OMIM | 1 | | 317 | 3133 | 300205 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | EBP CL E G H | 10682 | 300960 | MEND syndrome | 300960 | C4085243 | OMIM | 1 | | 317 | 3133 | 300205 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | EBP CL E G H | 10682 | 300960 | MEND syndrome | 300960 | C4085243 | OMIM | 1 | | 317 | 3133 | 300205 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | EML1 CL E G H | 2009 | 600348 | Band heterotopia | 600348 | C1838239 | OMIM | 1 | | 170 | 3330 | 602033 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | EML1 CL E G H | 2009 | 600348 | Band heterotopia | 600348 | C1838239 | OMIM | 1 | | 170 | 3330 | 602033 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | EML1 CL E G H | 2009 | 600348 | Band heterotopia | 600348 | C1838239 | OMIM | 1 | | 170 | 3330 | 602033 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | EML1 CL E G H | 2009 | 600348 | Band heterotopia | 600348 | C1838239 | OMIM | 1 | | 170 | 3330 | 602033 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | EOGT CL E G H | 285203 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 1 | | 218 | 28526 | 614789 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | EOGT CL E G H | 285203 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 1 | | 218 | 28526 | 614789 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | EOGT CL E G H | 285203 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 1 | | 218 | 28526 | 614789 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | EOGT CL E G H | 285203 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 1 | | 218 | 28526 | 614789 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 1572 | 3434 | 126340 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 1572 | 3434 | 126340 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 1572 | 3434 | 126340 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 1572 | 3434 | 126340 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 523 | 3435 | 133510 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 523 | 3435 | 133510 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 523 | 3435 | 133510 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 523 | 3435 | 133510 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 726 | 3436 | 133520 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 726 | 3436 | 133520 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 726 | 3436 | 133520 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 726 | 3436 | 133520 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 491 | 3437 | 133530 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 491 | 3437 | 133530 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 491 | 3437 | 133530 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 491 | 3437 | 133530 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | ESCO2 CL E G H | 157570 | 268300 | Roberts-SC phocomelia syndrome | 268300 | C0392475 | OMIM | 1 | | 564 | 27230 | 609353 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | ESCO2 CL E G H | 157570 | 268300 | Roberts-SC phocomelia syndrome | 268300 | C0392475 | OMIM | 1 | | 564 | 27230 | 609353 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | ESCO2 CL E G H | 157570 | 268300 | Roberts-SC phocomelia syndrome | 268300 | C0392475 | OMIM | 1 | | 564 | 27230 | 609353 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | ESCO2 CL E G H | 157570 | 268300 | Roberts-SC phocomelia syndrome | 268300 | C0392475 | OMIM | 1 | | 564 | 27230 | 609353 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FAM111A CL E G H | 63901 | 602361 | Gracile bone dysplasia | 602361 | C1865639 | OMIM | 1 | | 189 | 24725 | 615292 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FAM111A CL E G H | 63901 | 602361 | Gracile bone dysplasia | 602361 | C1865639 | OMIM | 1 | | 189 | 24725 | 615292 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FAM111A CL E G H | 63901 | 602361 | Gracile bone dysplasia | 602361 | C1865639 | OMIM | 1 | | 189 | 24725 | 615292 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FAM111A CL E G H | 63901 | 602361 | Gracile bone dysplasia | 602361 | C1865639 | OMIM | 1 | | 189 | 24725 | 615292 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FANCB CL E G H | 2187 | 3412 | | | | ORPHA | 1 | | 633 | 3583 | 300515 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FANCB CL E G H | 2187 | 3412 | | | | ORPHA | 1 | | 633 | 3583 | 300515 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FANCB CL E G H | 2187 | 3412 | | | | ORPHA | 1 | | 633 | 3583 | 300515 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FANCB CL E G H | 2187 | 3412 | | | | ORPHA | 1 | | 633 | 3583 | 300515 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FANCB CL E G H | 2187 | 314390 | VACTERL association with hydrocephaly, X-linked | 314390 | C1839115 | OMIM | 1 | | 633 | 3583 | 300515 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FANCB CL E G H | 2187 | 314390 | VACTERL association with hydrocephaly, X-linked | 314390 | C1839115 | OMIM | 1 | | 633 | 3583 | 300515 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FANCB CL E G H | 2187 | 314390 | VACTERL association with hydrocephaly, X-linked | 314390 | C1839115 | OMIM | 1 | | 633 | 3583 | 300515 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FANCB CL E G H | 2187 | 314390 | VACTERL association with hydrocephaly, X-linked | 314390 | C1839115 | OMIM | 1 | | 633 | 3583 | 300515 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FBN1 CL E G H | 2200 | 616914 | Marfan lipodystrophy syndrome | 616914 | C4310796 | OMIM | 1 | | 6619 | 3603 | 134797 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FBN1 CL E G H | 2200 | 616914 | Marfan lipodystrophy syndrome | 616914 | C4310796 | OMIM | 1 | | 6619 | 3603 | 134797 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FBN1 CL E G H | 2200 | 616914 | Marfan lipodystrophy syndrome | 616914 | C4310796 | OMIM | 1 | | 6619 | 3603 | 134797 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FBN1 CL E G H | 2200 | 616914 | Marfan lipodystrophy syndrome | 616914 | C4310796 | OMIM | 1 | | 6619 | 3603 | 134797 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FGFR1 CL E G H | 2260 | 613001 | Encephalocraniocutaneous lipomatosis | 613001 | C0406612 | OMIM | 1 | | 936 | 3688 | 136350 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FGFR1 CL E G H | 2260 | 613001 | Encephalocraniocutaneous lipomatosis | 613001 | C0406612 | OMIM | 1 | | 936 | 3688 | 136350 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FGFR1 CL E G H | 2260 | 613001 | Encephalocraniocutaneous lipomatosis | 613001 | C0406612 | OMIM | 1 | | 936 | 3688 | 136350 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FGFR1 CL E G H | 2260 | 613001 | Encephalocraniocutaneous lipomatosis | 613001 | C0406612 | OMIM | 1 | | 936 | 3688 | 136350 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FGFR1 CL E G H | 2260 | 101600 | Pfeiffer syndrome | 101600 | C1863356 | OMIM | 1 | | 936 | 3688 | 136350 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FGFR1 CL E G H | 2260 | 101600 | Pfeiffer syndrome | 101600 | C1863356 | OMIM | 1 | | 936 | 3688 | 136350 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FGFR1 CL E G H | 2260 | 101600 | Pfeiffer syndrome | 101600 | C1863356 | OMIM | 1 | | 936 | 3688 | 136350 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FGFR1 CL E G H | 2260 | 101600 | Pfeiffer syndrome | 101600 | C1863356 | OMIM | 1 | | 936 | 3688 | 136350 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FGFR2 CL E G H | 2263 | 93259 | | | | ORPHA | 1 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FGFR2 CL E G H | 2263 | 93259 | | | | ORPHA | 1 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FGFR2 CL E G H | 2263 | 93259 | | | | ORPHA | 1 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FGFR2 CL E G H | 2263 | 93259 | | | | ORPHA | 1 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FGFR2 CL E G H | 2263 | 101200 | Acrocephalosyndactyly type I | 101200 | C0001193 | OMIM | 1 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FGFR2 CL E G H | 2263 | 101200 | Acrocephalosyndactyly type I | 101200 | C0001193 | OMIM | 1 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FGFR2 CL E G H | 2263 | 101200 | Acrocephalosyndactyly type I | 101200 | C0001193 | OMIM | 1 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FGFR2 CL E G H | 2263 | 101200 | Acrocephalosyndactyly type I | 101200 | C0001193 | OMIM | 1 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FGFR2 CL E G H | 2263 | 207410 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | 207410 | C2936791 | OMIM | 1 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FGFR2 CL E G H | 2263 | 207410 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | 207410 | C2936791 | OMIM | 1 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FGFR2 CL E G H | 2263 | 207410 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | 207410 | C2936791 | OMIM | 1 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FGFR2 CL E G H | 2263 | 207410 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | 207410 | C2936791 | OMIM | 1 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FGFR2 CL E G H | 2263 | 123790 | Cutis Gyrata syndrome of Beare and Stevenson | 123790 | C1852406 | OMIM | 1 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FGFR2 CL E G H | 2263 | 123790 | Cutis Gyrata syndrome of Beare and Stevenson | 123790 | C1852406 | OMIM | 1 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FGFR2 CL E G H | 2263 | 123790 | Cutis Gyrata syndrome of Beare and Stevenson | 123790 | C1852406 | OMIM | 1 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FGFR2 CL E G H | 2263 | 123790 | Cutis Gyrata syndrome of Beare and Stevenson | 123790 | C1852406 | OMIM | 1 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FGFR2 CL E G H | 2263 | 101600 | Pfeiffer syndrome | 101600 | C1863356 | OMIM | 1 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FGFR2 CL E G H | 2263 | 101600 | Pfeiffer syndrome | 101600 | C1863356 | OMIM | 1 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FGFR2 CL E G H | 2263 | 101600 | Pfeiffer syndrome | 101600 | C1863356 | OMIM | 1 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FGFR2 CL E G H | 2263 | 101600 | Pfeiffer syndrome | 101600 | C1863356 | OMIM | 1 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FGFR3 CL E G H | 2261 | 93262 | | | | ORPHA | 1 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FGFR3 CL E G H | 2261 | 93262 | | | | ORPHA | 1 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FGFR3 CL E G H | 2261 | 93262 | | | | ORPHA | 1 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FGFR3 CL E G H | 2261 | 93262 | | | | ORPHA | 1 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FGFR3 CL E G H | 2261 | 616482 | Severe achondroplasia with developmental delay and acanthosis nigricans | 616482 | C2674173 | OMIM | 1 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FGFR3 CL E G H | 2261 | 616482 | Severe achondroplasia with developmental delay and acanthosis nigricans | 616482 | C2674173 | OMIM | 1 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FGFR3 CL E G H | 2261 | 616482 | Severe achondroplasia with developmental delay and acanthosis nigricans | 616482 | C2674173 | OMIM | 1 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FGFR3 CL E G H | 2261 | 616482 | Severe achondroplasia with developmental delay and acanthosis nigricans | 616482 | C2674173 | OMIM | 1 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FGFR3 CL E G H | 2261 | 187600 | Thanatophoric dysplasia type 1 | 187600 | C1868678 | OMIM | 1 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FGFR3 CL E G H | 2261 | 187600 | Thanatophoric dysplasia type 1 | 187600 | C1868678 | OMIM | 1 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FGFR3 CL E G H | 2261 | 187600 | Thanatophoric dysplasia type 1 | 187600 | C1868678 | OMIM | 1 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FGFR3 CL E G H | 2261 | 187600 | Thanatophoric dysplasia type 1 | 187600 | C1868678 | OMIM | 1 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FKRP CL E G H | 79147 | 899 | | | | ORPHA | 1 | | 950 | 17997 | 606596 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FKRP CL E G H | 79147 | 588 | | | | ORPHA | 1 | | 950 | 17997 | 606596 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FKRP CL E G H | 79147 | 899 | | | | ORPHA | 1 | | 950 | 17997 | 606596 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FKRP CL E G H | 79147 | 588 | | | | ORPHA | 1 | | 950 | 17997 | 606596 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FKRP CL E G H | 79147 | 588 | | | | ORPHA | 1 | | 950 | 17997 | 606596 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FKRP CL E G H | 79147 | 899 | | | | ORPHA | 1 | | 950 | 17997 | 606596 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FKRP CL E G H | 79147 | 588 | | | | ORPHA | 1 | | 950 | 17997 | 606596 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FKRP CL E G H | 79147 | 899 | | | | ORPHA | 1 | | 950 | 17997 | 606596 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FKRP CL E G H | 79147 | 613153 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 | 613153 | C3150413 | OMIM | 1 | | 950 | 17997 | 606596 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FKRP CL E G H | 79147 | 613153 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 | 613153 | C3150413 | OMIM | 1 | | 950 | 17997 | 606596 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FKRP CL E G H | 79147 | 613153 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 | 613153 | C3150413 | OMIM | 1 | | 950 | 17997 | 606596 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FKRP CL E G H | 79147 | 613153 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 | 613153 | C3150413 | OMIM | 1 | | 950 | 17997 | 606596 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FKRP CL E G H | 79147 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 950 | 17997 | 606596 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FKRP CL E G H | 79147 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 950 | 17997 | 606596 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FKRP CL E G H | 79147 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 950 | 17997 | 606596 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FKRP CL E G H | 79147 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 950 | 17997 | 606596 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FKTN CL E G H | 2218 | 899 | | | | ORPHA | 1 | | 914 | 3622 | 607440 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FKTN CL E G H | 2218 | 588 | | | | ORPHA | 1 | | 914 | 3622 | 607440 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FKTN CL E G H | 2218 | 588 | | | | ORPHA | 1 | | 914 | 3622 | 607440 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FKTN CL E G H | 2218 | 899 | | | | ORPHA | 1 | | 914 | 3622 | 607440 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FKTN CL E G H | 2218 | 588 | | | | ORPHA | 1 | | 914 | 3622 | 607440 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FKTN CL E G H | 2218 | 899 | | | | ORPHA | 1 | | 914 | 3622 | 607440 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FKTN CL E G H | 2218 | 899 | | | | ORPHA | 1 | | 914 | 3622 | 607440 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FKTN CL E G H | 2218 | 588 | | | | ORPHA | 1 | | 914 | 3622 | 607440 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FKTN CL E G H | 2218 | 253800 | Fukuyama congenital muscular dystrophy | 253800 | C0410174 | OMIM | 1 | | 914 | 3622 | 607440 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FKTN CL E G H | 2218 | 253800 | Fukuyama congenital muscular dystrophy | 253800 | C0410174 | OMIM | 1 | | 914 | 3622 | 607440 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FKTN CL E G H | 2218 | 253800 | Fukuyama congenital muscular dystrophy | 253800 | C0410174 | OMIM | 1 | | 914 | 3622 | 607440 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FKTN CL E G H | 2218 | 253800 | Fukuyama congenital muscular dystrophy | 253800 | C0410174 | OMIM | 1 | | 914 | 3622 | 607440 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FKTN CL E G H | 2218 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 914 | 3622 | 607440 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FKTN CL E G H | 2218 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 914 | 3622 | 607440 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FKTN CL E G H | 2218 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 914 | 3622 | 607440 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FKTN CL E G H | 2218 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 914 | 3622 | 607440 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FKTN CL E G H | 2218 | 272 | VACTERL hydrocephaly | | | ORPHA | 1 | | 914 | 3622 | 607440 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FKTN CL E G H | 2218 | 272 | VACTERL hydrocephaly | | | ORPHA | 1 | | 914 | 3622 | 607440 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FKTN CL E G H | 2218 | 272 | VACTERL hydrocephaly | | | ORPHA | 1 | | 914 | 3622 | 607440 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FKTN CL E G H | 2218 | 272 | VACTERL hydrocephaly | | | ORPHA | 1 | | 914 | 3622 | 607440 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FLNA CL E G H | 2316 | 90652 | | | | ORPHA | 1 | | 3033 | 3754 | 300017 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FLNA CL E G H | 2316 | 90652 | | | | ORPHA | 1 | | 3033 | 3754 | 300017 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FLNA CL E G H | 2316 | 90652 | | | | ORPHA | 1 | | 3033 | 3754 | 300017 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FLNA CL E G H | 2316 | 90652 | | | | ORPHA | 1 | | 3033 | 3754 | 300017 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FLNA CL E G H | 2316 | 304120 | Oto-palato-digital syndrome, type II | 304120 | C1844696 | OMIM | 1 | | 3033 | 3754 | 300017 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FLNA CL E G H | 2316 | 304120 | Oto-palato-digital syndrome, type II | 304120 | C1844696 | OMIM | 1 | | 3033 | 3754 | 300017 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FLNA CL E G H | 2316 | 304120 | Oto-palato-digital syndrome, type II | 304120 | C1844696 | OMIM | 1 | | 3033 | 3754 | 300017 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FLNA CL E G H | 2316 | 304120 | Oto-palato-digital syndrome, type II | 304120 | C1844696 | OMIM | 1 | | 3033 | 3754 | 300017 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FLVCR2 CL E G H | 55640 | 225790 | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome | 225790 | C1856972 | OMIM | 1 | | 196 | 20105 | 610865 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FLVCR2 CL E G H | 55640 | 225790 | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome | 225790 | C1856972 | OMIM | 1 | | 196 | 20105 | 610865 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FLVCR2 CL E G H | 55640 | 225790 | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome | 225790 | C1856972 | OMIM | 1 | | 196 | 20105 | 610865 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FLVCR2 CL E G H | 55640 | 225790 | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome | 225790 | C1856972 | OMIM | 1 | | 196 | 20105 | 610865 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FRAS1 CL E G H | 80144 | 219000 | Cryptophthalmos syndrome | 219000 | C0265233 | OMIM | 1 | | 1287 | 19185 | 607830 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FRAS1 CL E G H | 80144 | 219000 | Cryptophthalmos syndrome | 219000 | C0265233 | OMIM | 1 | | 1287 | 19185 | 607830 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FRAS1 CL E G H | 80144 | 219000 | Cryptophthalmos syndrome | 219000 | C0265233 | OMIM | 1 | | 1287 | 19185 | 607830 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FRAS1 CL E G H | 80144 | 219000 | Cryptophthalmos syndrome | 219000 | C0265233 | OMIM | 1 | | 1287 | 19185 | 607830 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FTO CL E G H | 79068 | 612938 | Growth retardation, developmental delay, coarse facies, and early death | 612938 | C2752001 | OMIM | 1 | | 243 | 24678 | 610966 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FTO CL E G H | 79068 | 612938 | Growth retardation, developmental delay, coarse facies, and early death | 612938 | C2752001 | OMIM | 1 | | 243 | 24678 | 610966 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FTO CL E G H | 79068 | 612938 | Growth retardation, developmental delay, coarse facies, and early death | 612938 | C2752001 | OMIM | 1 | | 243 | 24678 | 610966 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FTO CL E G H | 79068 | 612938 | Growth retardation, developmental delay, coarse facies, and early death | 612938 | C2752001 | OMIM | 1 | | 243 | 24678 | 610966 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | GALC CL E G H | 2581 | 245200 | Galactosylceramide beta-galactosidase deficiency | 245200 | C0023521 | OMIM | 1 | | 1185 | 4115 | 606890 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | GALC CL E G H | 2581 | 245200 | Galactosylceramide beta-galactosidase deficiency | 245200 | C0023521 | OMIM | 1 | | 1185 | 4115 | 606890 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | GALC CL E G H | 2581 | 245200 | Galactosylceramide beta-galactosidase deficiency | 245200 | C0023521 | OMIM | 1 | | 1185 | 4115 | 606890 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | GALC CL E G H | 2581 | 245200 | Galactosylceramide beta-galactosidase deficiency | 245200 | C0023521 | OMIM | 1 | | 1185 | 4115 | 606890 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | GBA CL E G H | 2629 | 2072 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | GBA CL E G H | 2629 | 2072 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | GBA CL E G H | 2629 | 2072 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | GBA CL E G H | 2629 | 2072 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | GBA CL E G H | 2629 | 231005 | Gaucher disease type 3C | 231005 | C1856476 | OMIM | 1 | | | 4177 | 606463 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | GBA CL E G H | 2629 | 231005 | Gaucher disease type 3C | 231005 | C1856476 | OMIM | 1 | | | 4177 | 606463 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | GBA CL E G H | 2629 | 231005 | Gaucher disease type 3C | 231005 | C1856476 | OMIM | 1 | | | 4177 | 606463 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | GBA CL E G H | 2629 | 231005 | Gaucher disease type 3C | 231005 | C1856476 | OMIM | 1 | | | 4177 | 606463 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | GFAP CL E G H | 2670 | 203450 | Alexander's disease | 203450 | C0270726 | OMIM | 1 | | 455 | 4235 | 137780 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | GFAP CL E G H | 2670 | 203450 | Alexander's disease | 203450 | C0270726 | OMIM | 1 | | 455 | 4235 | 137780 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | GFAP CL E G H | 2670 | 203450 | Alexander's disease | 203450 | C0270726 | OMIM | 1 | | 455 | 4235 | 137780 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | GFAP CL E G H | 2670 | 203450 | Alexander's disease | 203450 | C0270726 | OMIM | 1 | | 455 | 4235 | 137780 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | GLI2 CL E G H | 2736 | 610829 | Holoprosencephaly 9 | 610829 | C1835819 | OMIM | 1 | | 832 | 4318 | 165230 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | GLI2 CL E G H | 2736 | 610829 | Holoprosencephaly 9 | 610829 | C1835819 | OMIM | 1 | | 832 | 4318 | 165230 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | GLI2 CL E G H | 2736 | 610829 | Holoprosencephaly 9 | 610829 | C1835819 | OMIM | 1 | | 832 | 4318 | 165230 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | GLI2 CL E G H | 2736 | 610829 | Holoprosencephaly 9 | 610829 | C1835819 | OMIM | 1 | | 832 | 4318 | 165230 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | GMPPB CL E G H | 29925 | 588 | | | | ORPHA | 1 | | 364 | 22932 | 615320 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | GMPPB CL E G H | 29925 | 588 | | | | ORPHA | 1 | | 364 | 22932 | 615320 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | GMPPB CL E G H | 29925 | 588 | | | | ORPHA | 1 | | 364 | 22932 | 615320 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | GMPPB CL E G H | 29925 | 588 | | | | ORPHA | 1 | | 364 | 22932 | 615320 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | GPC3 CL E G H | 2719 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 989 | 4451 | 300037 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | GPC3 CL E G H | 2719 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 989 | 4451 | 300037 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | GPC3 CL E G H | 2719 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 989 | 4451 | 300037 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | GPC3 CL E G H | 2719 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 989 | 4451 | 300037 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | GPC4 CL E G H | 2239 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 243 | 4452 | 300168 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | GPC4 CL E G H | 2239 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 243 | 4452 | 300168 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | GPC4 CL E G H | 2239 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 243 | 4452 | 300168 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | GPC4 CL E G H | 2239 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 243 | 4452 | 300168 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | GPSM2 CL E G H | 29899 | 604213 | Chudley-McCullough syndrome | 604213 | C1858695 | OMIM | 1 | | 279 | 29501 | 609245 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | GPSM2 CL E G H | 29899 | 604213 | Chudley-McCullough syndrome | 604213 | C1858695 | OMIM | 1 | | 279 | 29501 | 609245 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | GPSM2 CL E G H | 29899 | 604213 | Chudley-McCullough syndrome | 604213 | C1858695 | OMIM | 1 | | 279 | 29501 | 609245 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | GPSM2 CL E G H | 29899 | 604213 | Chudley-McCullough syndrome | 604213 | C1858695 | OMIM | 1 | | 279 | 29501 | 609245 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | GUSB CL E G H | 2990 | 253220 | Mucopolysaccharidosis type VII | 253220 | C0085132 | OMIM | 1 | | 414 | 4696 | 611499 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | GUSB CL E G H | 2990 | 253220 | Mucopolysaccharidosis type VII | 253220 | C0085132 | OMIM | 1 | | 414 | 4696 | 611499 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | GUSB CL E G H | 2990 | 253220 | Mucopolysaccharidosis type VII | 253220 | C0085132 | OMIM | 1 | | 414 | 4696 | 611499 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | GUSB CL E G H | 2990 | 253220 | Mucopolysaccharidosis type VII | 253220 | C0085132 | OMIM | 1 | | 414 | 4696 | 611499 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | HBA1 CL E G H | 3039 | 163596 | | | | ORPHA | 1 | | 394 | 4823 | 141800 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | HBA1 CL E G H | 3039 | 163596 | | | | ORPHA | 1 | | 394 | 4823 | 141800 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | HBA1 CL E G H | 3039 | 163596 | | | | ORPHA | 1 | | 394 | 4823 | 141800 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | HBA1 CL E G H | 3039 | 163596 | | | | ORPHA | 1 | | 394 | 4823 | 141800 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | HBA2 CL E G H | 3040 | 163596 | | | | ORPHA | 1 | | 350 | 4824 | 141850 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | HBA2 CL E G H | 3040 | 163596 | | | | ORPHA | 1 | | 350 | 4824 | 141850 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | HBA2 CL E G H | 3040 | 163596 | | | | ORPHA | 1 | | 350 | 4824 | 141850 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | HBA2 CL E G H | 3040 | 163596 | | | | ORPHA | 1 | | 350 | 4824 | 141850 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | HCCS CL E G H | 3052 | 309801 | Linear skin defects with multiple congenital anomalies 1 | 309801 | C0796070 | OMIM | 1 | | 234 | 4837 | 300056 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | HCCS CL E G H | 3052 | 309801 | Linear skin defects with multiple congenital anomalies 1 | 309801 | C0796070 | OMIM | 1 | | 234 | 4837 | 300056 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | HCCS CL E G H | 3052 | 309801 | Linear skin defects with multiple congenital anomalies 1 | 309801 | C0796070 | OMIM | 1 | | 234 | 4837 | 300056 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | HCCS CL E G H | 3052 | 309801 | Linear skin defects with multiple congenital anomalies 1 | 309801 | C0796070 | OMIM | 1 | | 234 | 4837 | 300056 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | HDAC6 CL E G H | 10013 | 163966 | | | | ORPHA | 1 | | 238 | 14064 | 300272 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | HDAC6 CL E G H | 10013 | 163966 | | | | ORPHA | 1 | | 238 | 14064 | 300272 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | HDAC6 CL E G H | 10013 | 163966 | | | | ORPHA | 1 | | 238 | 14064 | 300272 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | HDAC6 CL E G H | 10013 | 163966 | | | | ORPHA | 1 | | 238 | 14064 | 300272 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | HDAC6 CL E G H | 10013 | 300863 | Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia | 300863 | C3275476 | OMIM | 1 | | 238 | 14064 | 300272 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | HDAC6 CL E G H | 10013 | 300863 | Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia | 300863 | C3275476 | OMIM | 1 | | 238 | 14064 | 300272 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | HDAC6 CL E G H | 10013 | 300863 | Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia | 300863 | C3275476 | OMIM | 1 | | 238 | 14064 | 300272 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | HDAC6 CL E G H | 10013 | 300863 | Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia | 300863 | C3275476 | OMIM | 1 | | 238 | 14064 | 300272 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | HRAS CL E G H | 3265 | 218040 | Costello syndrome | 218040 | C0587248 | OMIM | 1 | | 622 | 5173 | 190020 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | HRAS CL E G H | 3265 | 218040 | Costello syndrome | 218040 | C0587248 | OMIM | 1 | | 622 | 5173 | 190020 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | HRAS CL E G H | 3265 | 218040 | Costello syndrome | 218040 | C0587248 | OMIM | 1 | | 622 | 5173 | 190020 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | HRAS CL E G H | 3265 | 218040 | Costello syndrome | 218040 | C0587248 | OMIM | 1 | | 622 | 5173 | 190020 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | HYLS1 CL E G H | 219844 | 2189 | | | | ORPHA | 1 | | 314 | 26558 | 610693 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | HYLS1 CL E G H | 219844 | 2189 | | | | ORPHA | 1 | | 314 | 26558 | 610693 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | HYLS1 CL E G H | 219844 | 2189 | | | | ORPHA | 1 | | 314 | 26558 | 610693 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | HYLS1 CL E G H | 219844 | 2189 | | | | ORPHA | 1 | | 314 | 26558 | 610693 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | ICK CL E G H | 22858 | 612651 | Endocrine-cerebroosteodysplasia | 612651 | C2675227 | OMIM | 1 | | | 21219 | 612325 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | ICK CL E G H | 22858 | 612651 | Endocrine-cerebroosteodysplasia | 612651 | C2675227 | OMIM | 1 | | | 21219 | 612325 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | ICK CL E G H | 22858 | 612651 | Endocrine-cerebroosteodysplasia | 612651 | C2675227 | OMIM | 1 | | | 21219 | 612325 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | ICK CL E G H | 22858 | 612651 | Endocrine-cerebroosteodysplasia | 612651 | C2675227 | OMIM | 1 | | | 21219 | 612325 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | IDS CL E G H | 3423 | 309900 | Mucopolysaccharidosis, MPS-II | 309900 | C0026705 | OMIM | 1 | | 931 | 5389 | 300823 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | IDS CL E G H | 3423 | 309900 | Mucopolysaccharidosis, MPS-II | 309900 | C0026705 | OMIM | 1 | | 931 | 5389 | 300823 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | IDS CL E G H | 3423 | 309900 | Mucopolysaccharidosis, MPS-II | 309900 | C0026705 | OMIM | 1 | | 931 | 5389 | 300823 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | IDS CL E G H | 3423 | 309900 | Mucopolysaccharidosis, MPS-II | 309900 | C0026705 | OMIM | 1 | | 931 | 5389 | 300823 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | IDUA CL E G H | 3425 | 93473 | | | | ORPHA | 1 | | 1788 | 5391 | 252800 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | IDUA CL E G H | 3425 | 93473 | | | | ORPHA | 1 | | 1788 | 5391 | 252800 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | IDUA CL E G H | 3425 | 93473 | | | | ORPHA | 1 | | 1788 | 5391 | 252800 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | IDUA CL E G H | 3425 | 93473 | | | | ORPHA | 1 | | 1788 | 5391 | 252800 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | IDUA CL E G H | 3425 | 607014 | Dysostosis multiplex | 607014 | C0086795 | OMIM | 1 | | 1788 | 5391 | 252800 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | IDUA CL E G H | 3425 | 607014 | Dysostosis multiplex | 607014 | C0086795 | OMIM | 1 | | 1788 | 5391 | 252800 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | IDUA CL E G H | 3425 | 607014 | Dysostosis multiplex | 607014 | C0086795 | OMIM | 1 | | 1788 | 5391 | 252800 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | IDUA CL E G H | 3425 | 607014 | Dysostosis multiplex | 607014 | C0086795 | OMIM | 1 | | 1788 | 5391 | 252800 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | IFT43 CL E G H | 112752 | 617866 | SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY | 617866 | CN795020 | OMIM | 1 | | 257 | 29669 | 614068 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | IFT43 CL E G H | 112752 | 617866 | SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY | 617866 | CN795020 | OMIM | 1 | | 257 | 29669 | 614068 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | IFT43 CL E G H | 112752 | 617866 | SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY | 617866 | CN795020 | OMIM | 1 | | 257 | 29669 | 614068 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | IFT43 CL E G H | 112752 | 617866 | SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY | 617866 | CN795020 | OMIM | 1 | | 257 | 29669 | 614068 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | ISPD CL E G H | 729920 | 899 | | | | ORPHA | 1 | | 733 | 37276 | 614631 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | ISPD CL E G H | 729920 | 899 | | | | ORPHA | 1 | | 733 | 37276 | 614631 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | ISPD CL E G H | 729920 | 899 | | | | ORPHA | 1 | | 733 | 37276 | 614631 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | ISPD CL E G H | 729920 | 899 | | | | ORPHA | 1 | | 733 | 37276 | 614631 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | ISPD CL E G H | 729920 | 614643 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 | 614643 | C3553330 | OMIM | 1 | | 733 | 37276 | 614631 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | ISPD CL E G H | 729920 | 614643 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 | 614643 | C3553330 | OMIM | 1 | | 733 | 37276 | 614631 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | ISPD CL E G H | 729920 | 614643 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 | 614643 | C3553330 | OMIM | 1 | | 733 | 37276 | 614631 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | ISPD CL E G H | 729920 | 614643 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 | 614643 | C3553330 | OMIM | 1 | | 733 | 37276 | 614631 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | KDM6A CL E G H | 7403 | 2322 | | | | ORPHA | 1 | | 916 | 12637 | 300128 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | KDM6A CL E G H | 7403 | 2322 | | | | ORPHA | 1 | | 916 | 12637 | 300128 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | KDM6A CL E G H | 7403 | 2322 | | | | ORPHA | 1 | | 916 | 12637 | 300128 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | KDM6A CL E G H | 7403 | 2322 | | | | ORPHA | 1 | | 916 | 12637 | 300128 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | KIAA0586 CL E G H | 9786 | 616546 | Short-rib thoracic dysplasia 14 with polydactyly | 616546 | C4225286 | OMIM | 1 | | 1253 | 19960 | 610178 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | KIAA0586 CL E G H | 9786 | 616546 | Short-rib thoracic dysplasia 14 with polydactyly | 616546 | C4225286 | OMIM | 1 | | 1253 | 19960 | 610178 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | KIAA0586 CL E G H | 9786 | 616546 | Short-rib thoracic dysplasia 14 with polydactyly | 616546 | C4225286 | OMIM | 1 | | 1253 | 19960 | 610178 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | KIAA0586 CL E G H | 9786 | 616546 | Short-rib thoracic dysplasia 14 with polydactyly | 616546 | C4225286 | OMIM | 1 | | 1253 | 19960 | 610178 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | KIAA1109 CL E G H | 84162 | 617822 | ALKURAYA-KUCINSKAS SYNDROME | 617822 | CN737163 | OMIM | 1 | | | 26953 | 611565 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | KIAA1109 CL E G H | 84162 | 617822 | ALKURAYA-KUCINSKAS SYNDROME | 617822 | CN737163 | OMIM | 1 | | | 26953 | 611565 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | KIAA1109 CL E G H | 84162 | 617822 | ALKURAYA-KUCINSKAS SYNDROME | 617822 | CN737163 | OMIM | 1 | | | 26953 | 611565 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | KIAA1109 CL E G H | 84162 | 617822 | ALKURAYA-KUCINSKAS SYNDROME | 617822 | CN737163 | OMIM | 1 | | | 26953 | 611565 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 2622 | 888 | 601255 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 2622 | 888 | 601255 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 2622 | 888 | 601255 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 2622 | 888 | 601255 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | KIF7 CL E G H | 374654 | 2189 | | | | ORPHA | 1 | | 1401 | 30497 | 611254 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | KIF7 CL E G H | 374654 | 2189 | | | | ORPHA | 1 | | 1401 | 30497 | 611254 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | KIF7 CL E G H | 374654 | 2189 | | | | ORPHA | 1 | | 1401 | 30497 | 611254 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | KIF7 CL E G H | 374654 | 2189 | | | | ORPHA | 1 | | 1401 | 30497 | 611254 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | KIF7 CL E G H | 374654 | 614120 | Hydrolethalus syndrome 2 | 614120 | C3279899 | OMIM | 1 | | 1401 | 30497 | 611254 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | KIF7 CL E G H | 374654 | 614120 | Hydrolethalus syndrome 2 | 614120 | C3279899 | OMIM | 1 | | 1401 | 30497 | 611254 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | KIF7 CL E G H | 374654 | 614120 | Hydrolethalus syndrome 2 | 614120 | C3279899 | OMIM | 1 | | 1401 | 30497 | 611254 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | KIF7 CL E G H | 374654 | 614120 | Hydrolethalus syndrome 2 | 614120 | C3279899 | OMIM | 1 | | 1401 | 30497 | 611254 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | KMT2D CL E G H | 8085 | 2322 | | | | ORPHA | 1 | | 4323 | 7133 | 602113 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | KMT2D CL E G H | 8085 | 2322 | | | | ORPHA | 1 | | 4323 | 7133 | 602113 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | KMT2D CL E G H | 8085 | 2322 | | | | ORPHA | 1 | | 4323 | 7133 | 602113 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | KMT2D CL E G H | 8085 | 2322 | | | | ORPHA | 1 | | 4323 | 7133 | 602113 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | L1CAM CL E G H | 3897 | 2182 | | | | ORPHA | 1 | | 968 | 6470 | 308840 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | L1CAM CL E G H | 3897 | 2182 | | | | ORPHA | 1 | | 968 | 6470 | 308840 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | L1CAM CL E G H | 3897 | 2182 | | | | ORPHA | 1 | | 968 | 6470 | 308840 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | L1CAM CL E G H | 3897 | 2182 | | | | ORPHA | 1 | | 968 | 6470 | 308840 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | L1CAM CL E G H | 3897 | 304100 | Corpus callosum, partial agenesis of, X-linked | 304100 | C1839909 | OMIM | 1 | | 968 | 6470 | 308840 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | L1CAM CL E G H | 3897 | 304100 | Corpus callosum, partial agenesis of, X-linked | 304100 | C1839909 | OMIM | 1 | | 968 | 6470 | 308840 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | L1CAM CL E G H | 3897 | 304100 | Corpus callosum, partial agenesis of, X-linked | 304100 | C1839909 | OMIM | 1 | | 968 | 6470 | 308840 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | L1CAM CL E G H | 3897 | 304100 | Corpus callosum, partial agenesis of, X-linked | 304100 | C1839909 | OMIM | 1 | | 968 | 6470 | 308840 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | L1CAM CL E G H | 3897 | 303350 | Spastic paraplegia 1 | 303350 | C0795953 | OMIM | 1 | | 968 | 6470 | 308840 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | L1CAM CL E G H | 3897 | 303350 | Spastic paraplegia 1 | 303350 | C0795953 | OMIM | 1 | | 968 | 6470 | 308840 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | L1CAM CL E G H | 3897 | 303350 | Spastic paraplegia 1 | 303350 | C0795953 | OMIM | 1 | | 968 | 6470 | 308840 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | L1CAM CL E G H | 3897 | 303350 | Spastic paraplegia 1 | 303350 | C0795953 | OMIM | 1 | | 968 | 6470 | 308840 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | L1CAM CL E G H | 3897 | 307000 | X-linked hydrocephalus syndrome | 307000 | C0265216 | OMIM | 1 | | 968 | 6470 | 308840 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | L1CAM CL E G H | 3897 | 307000 | X-linked hydrocephalus syndrome | 307000 | C0265216 | OMIM | 1 | | 968 | 6470 | 308840 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | L1CAM CL E G H | 3897 | 307000 | X-linked hydrocephalus syndrome | 307000 | C0265216 | OMIM | 1 | | 968 | 6470 | 308840 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | L1CAM CL E G H | 3897 | 307000 | X-linked hydrocephalus syndrome | 307000 | C0265216 | OMIM | 1 | | 968 | 6470 | 308840 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | LAMB1 CL E G H | 3912 | 615191 | Lissencephaly 5 | 615191 | C3554657 | OMIM | 1 | | 767 | 6486 | 150240 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | LAMB1 CL E G H | 3912 | 615191 | Lissencephaly 5 | 615191 | C3554657 | OMIM | 1 | | 767 | 6486 | 150240 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | LAMB1 CL E G H | 3912 | 615191 | Lissencephaly 5 | 615191 | C3554657 | OMIM | 1 | | 767 | 6486 | 150240 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | LAMB1 CL E G H | 3912 | 615191 | Lissencephaly 5 | 615191 | C3554657 | OMIM | 1 | | 767 | 6486 | 150240 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | LARGE1 CL E G H | 9215 | 899 | | | | ORPHA | 1 | | 786 | 6511 | 603590 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | LARGE1 CL E G H | 9215 | 588 | | | | ORPHA | 1 | | 786 | 6511 | 603590 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | LARGE1 CL E G H | 9215 | 899 | | | | ORPHA | 1 | | 786 | 6511 | 603590 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | LARGE1 CL E G H | 9215 | 588 | | | | ORPHA | 1 | | 786 | 6511 | 603590 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | LARGE1 CL E G H | 9215 | 899 | | | | ORPHA | 1 | | 786 | 6511 | 603590 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | LARGE1 CL E G H | 9215 | 588 | | | | ORPHA | 1 | | 786 | 6511 | 603590 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | LARGE1 CL E G H | 9215 | 899 | | | | ORPHA | 1 | | 786 | 6511 | 603590 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | LARGE1 CL E G H | 9215 | 588 | | | | ORPHA | 1 | | 786 | 6511 | 603590 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | LARGE1 CL E G H | 9215 | 613154 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 | 613154 | C3150414 | OMIM | 1 | | 786 | 6511 | 603590 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | LARGE1 CL E G H | 9215 | 613154 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 | 613154 | C3150414 | OMIM | 1 | | 786 | 6511 | 603590 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | LARGE1 CL E G H | 9215 | 613154 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 | 613154 | C3150414 | OMIM | 1 | | 786 | 6511 | 603590 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | LARGE1 CL E G H | 9215 | 613154 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 | 613154 | C3150414 | OMIM | 1 | | 786 | 6511 | 603590 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | LARGE1 CL E G H | 9215 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 786 | 6511 | 603590 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | LARGE1 CL E G H | 9215 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 786 | 6511 | 603590 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | LARGE1 CL E G H | 9215 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 786 | 6511 | 603590 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | LARGE1 CL E G H | 9215 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 786 | 6511 | 603590 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | MBTPS2 CL E G H | 51360 | 85284 | | | | ORPHA | 1 | | 309 | 15455 | 300294 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | MBTPS2 CL E G H | 51360 | 85284 | | | | ORPHA | 1 | | 309 | 15455 | 300294 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | MBTPS2 CL E G H | 51360 | 85284 | | | | ORPHA | 1 | | 309 | 15455 | 300294 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | MBTPS2 CL E G H | 51360 | 85284 | | | | ORPHA | 1 | | 309 | 15455 | 300294 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | MED12 CL E G H | 9968 | 305450 | FG syndrome | 305450 | C0220769 | OMIM | 1 | | 1573 | 11957 | 300188 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | MED12 CL E G H | 9968 | 305450 | FG syndrome | 305450 | C0220769 | OMIM | 1 | | 1573 | 11957 | 300188 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | MED12 CL E G H | 9968 | 305450 | FG syndrome | 305450 | C0220769 | OMIM | 1 | | 1573 | 11957 | 300188 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | MED12 CL E G H | 9968 | 305450 | FG syndrome | 305450 | C0220769 | OMIM | 1 | | 1573 | 11957 | 300188 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | MKS1 CL E G H | 54903 | 249000 | Meckel syndrome type 1 | 249000 | C3714506 | OMIM | 1 | | 839 | 7121 | 609883 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | MKS1 CL E G H | 54903 | 249000 | Meckel syndrome type 1 | 249000 | C3714506 | OMIM | 1 | | 839 | 7121 | 609883 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | MKS1 CL E G H | 54903 | 249000 | Meckel syndrome type 1 | 249000 | C3714506 | OMIM | 1 | | 839 | 7121 | 609883 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | MKS1 CL E G H | 54903 | 249000 | Meckel syndrome type 1 | 249000 | C3714506 | OMIM | 1 | | 839 | 7121 | 609883 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | MMACHC CL E G H | 25974 | 79282 | | | | ORPHA | 1 | | 524 | 24525 | 609831 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | MMACHC CL E G H | 25974 | 79282 | | | | ORPHA | 1 | | 524 | 24525 | 609831 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | MMACHC CL E G H | 25974 | 79282 | | | | ORPHA | 1 | | 524 | 24525 | 609831 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | MMACHC CL E G H | 25974 | 79282 | | | | ORPHA | 1 | | 524 | 24525 | 609831 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | MMACHC CL E G H | 25974 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 524 | 24525 | 609831 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | MMACHC CL E G H | 25974 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 524 | 24525 | 609831 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | MMACHC CL E G H | 25974 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 524 | 24525 | 609831 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | MMACHC CL E G H | 25974 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 524 | 24525 | 609831 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | MTM1 CL E G H | 4534 | 310400 | Severe X-linked myotubular myopathy | 310400 | C0410203 | OMIM | 1 | | 807 | 7448 | 300415 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | MTM1 CL E G H | 4534 | 310400 | Severe X-linked myotubular myopathy | 310400 | C0410203 | OMIM | 1 | | 807 | 7448 | 300415 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | MTM1 CL E G H | 4534 | 310400 | Severe X-linked myotubular myopathy | 310400 | C0410203 | OMIM | 1 | | 807 | 7448 | 300415 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | MTM1 CL E G H | 4534 | 310400 | Severe X-linked myotubular myopathy | 310400 | C0410203 | OMIM | 1 | | 807 | 7448 | 300415 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | MUSK CL E G H | 4593 | 208150 | Pena-Shokeir syndrome type I | 208150 | C1276035 | OMIM | 1 | | 620 | 7525 | 601296 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | MUSK CL E G H | 4593 | 208150 | Pena-Shokeir syndrome type I | 208150 | C1276035 | OMIM | 1 | | 620 | 7525 | 601296 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | MUSK CL E G H | 4593 | 208150 | Pena-Shokeir syndrome type I | 208150 | C1276035 | OMIM | 1 | | 620 | 7525 | 601296 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | MUSK CL E G H | 4593 | 208150 | Pena-Shokeir syndrome type I | 208150 | C1276035 | OMIM | 1 | | 620 | 7525 | 601296 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | NDUFB11 CL E G H | 54539 | 309801 | Linear skin defects with multiple congenital anomalies 1 | 309801 | C0796070 | OMIM | 1 | | 209 | 20372 | 300403 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | NDUFB11 CL E G H | 54539 | 309801 | Linear skin defects with multiple congenital anomalies 1 | 309801 | C0796070 | OMIM | 1 | | 209 | 20372 | 300403 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | NDUFB11 CL E G H | 54539 | 309801 | Linear skin defects with multiple congenital anomalies 1 | 309801 | C0796070 | OMIM | 1 | | 209 | 20372 | 300403 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | NDUFB11 CL E G H | 54539 | 309801 | Linear skin defects with multiple congenital anomalies 1 | 309801 | C0796070 | OMIM | 1 | | 209 | 20372 | 300403 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | NF1 CL E G H | 4763 | 162200 | Neurofibromatosis, type 1 | 162200 | C0027831 | OMIM | 1 | | 12392 | 7765 | 613113 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | NF1 CL E G H | 4763 | 162200 | Neurofibromatosis, type 1 | 162200 | C0027831 | OMIM | 1 | | 12392 | 7765 | 613113 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | NF1 CL E G H | 4763 | 162200 | Neurofibromatosis, type 1 | 162200 | C0027831 | OMIM | 1 | | 12392 | 7765 | 613113 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | NF1 CL E G H | 4763 | 162200 | Neurofibromatosis, type 1 | 162200 | C0027831 | OMIM | 1 | | 12392 | 7765 | 613113 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | NOTCH1 CL E G H | 4851 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 1 | | 3187 | 7881 | 190198 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | NOTCH1 CL E G H | 4851 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 1 | | 3187 | 7881 | 190198 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | NOTCH1 CL E G H | 4851 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 1 | | 3187 | 7881 | 190198 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | NOTCH1 CL E G H | 4851 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 1 | | 3187 | 7881 | 190198 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | NOTCH2 CL E G H | 4853 | 102500 | Hajdu-Cheney syndrome | 102500 | C0917715 | OMIM | 1 | | 1122 | 7882 | 600275 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | NOTCH2 CL E G H | 4853 | 102500 | Hajdu-Cheney syndrome | 102500 | C0917715 | OMIM | 1 | | 1122 | 7882 | 600275 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | NOTCH2 CL E G H | 4853 | 102500 | Hajdu-Cheney syndrome | 102500 | C0917715 | OMIM | 1 | | 1122 | 7882 | 600275 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | NOTCH2 CL E G H | 4853 | 102500 | Hajdu-Cheney syndrome | 102500 | C0917715 | OMIM | 1 | | 1122 | 7882 | 600275 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | OFD1 CL E G H | 8481 | 311200 | Oral-facial-digital syndrome | 311200 | C1510460 | OMIM | 1 | | 1020 | 2567 | 300170 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | OFD1 CL E G H | 8481 | 311200 | Oral-facial-digital syndrome | 311200 | C1510460 | OMIM | 1 | | 1020 | 2567 | 300170 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | OFD1 CL E G H | 8481 | 311200 | Oral-facial-digital syndrome | 311200 | C1510460 | OMIM | 1 | | 1020 | 2567 | 300170 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | OFD1 CL E G H | 8481 | 311200 | Oral-facial-digital syndrome | 311200 | C1510460 | OMIM | 1 | | 1020 | 2567 | 300170 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | OGDH CL E G H | 4967 | 31 | Serpiginous choroiditis | | | ORPHA | 1 | | 171 | 8124 | 613022 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | OGDH CL E G H | 4967 | 31 | Serpiginous choroiditis | | | ORPHA | 1 | | 171 | 8124 | 613022 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | OGDH CL E G H | 4967 | 31 | Serpiginous choroiditis | | | ORPHA | 1 | | 171 | 8124 | 613022 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | OGDH CL E G H | 4967 | 31 | Serpiginous choroiditis | | | ORPHA | 1 | | 171 | 8124 | 613022 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | OSTM1 CL E G H | 28962 | 259720 | Osteopetrosis, autosomal recessive 5 | 259720 | C1968603 | OMIM | 1 | | 271 | 21652 | 607649 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | OSTM1 CL E G H | 28962 | 259720 | Osteopetrosis, autosomal recessive 5 | 259720 | C1968603 | OMIM | 1 | | 271 | 21652 | 607649 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | OSTM1 CL E G H | 28962 | 259720 | Osteopetrosis, autosomal recessive 5 | 259720 | C1968603 | OMIM | 1 | | 271 | 21652 | 607649 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | OSTM1 CL E G H | 28962 | 259720 | Osteopetrosis, autosomal recessive 5 | 259720 | C1968603 | OMIM | 1 | | 271 | 21652 | 607649 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | P4HB CL E G H | 5034 | 112240 | Cole-Carpenter syndrome 1 | 112240 | C4317154 | OMIM | 1 | | 242 | 8548 | 176790 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | P4HB CL E G H | 5034 | 112240 | Cole-Carpenter syndrome 1 | 112240 | C4317154 | OMIM | 1 | | 242 | 8548 | 176790 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | P4HB CL E G H | 5034 | 112240 | Cole-Carpenter syndrome 1 | 112240 | C4317154 | OMIM | 1 | | 242 | 8548 | 176790 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | P4HB CL E G H | 5034 | 112240 | Cole-Carpenter syndrome 1 | 112240 | C4317154 | OMIM | 1 | | 242 | 8548 | 176790 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | PEX19 CL E G H | 5824 | 614886 | Peroxisome biogenesis disorder 12A | 614886 | C3554002 | OMIM | 1 | | 379 | 9713 | 600279 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | PEX19 CL E G H | 5824 | 614886 | Peroxisome biogenesis disorder 12A | 614886 | C3554002 | OMIM | 1 | | 379 | 9713 | 600279 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | PEX19 CL E G H | 5824 | 614886 | Peroxisome biogenesis disorder 12A | 614886 | C3554002 | OMIM | 1 | | 379 | 9713 | 600279 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | PEX19 CL E G H | 5824 | 614886 | Peroxisome biogenesis disorder 12A | 614886 | C3554002 | OMIM | 1 | | 379 | 9713 | 600279 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | PIK3CA CL E G H | 5290 | 60040 | | | | ORPHA | 1 | | 1159 | 8975 | 171834 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | PIK3CA CL E G H | 5290 | 60040 | | | | ORPHA | 1 | | 1159 | 8975 | 171834 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | PIK3CA CL E G H | 5290 | 60040 | | | | ORPHA | 1 | | 1159 | 8975 | 171834 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | PIK3CA CL E G H | 5290 | 60040 | | | | ORPHA | 1 | | 1159 | 8975 | 171834 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | PIK3CA CL E G H | 5290 | 602501 | Megalencephaly cutis marmorata telangiectatica congenita | 602501 | C1865285 | OMIM | 1 | | 1159 | 8975 | 171834 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | PIK3CA CL E G H | 5290 | 602501 | Megalencephaly cutis marmorata telangiectatica congenita | 602501 | C1865285 | OMIM | 1 | | 1159 | 8975 | 171834 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | PIK3CA CL E G H | 5290 | 602501 | Megalencephaly cutis marmorata telangiectatica congenita | 602501 | C1865285 | OMIM | 1 | | 1159 | 8975 | 171834 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | PIK3CA CL E G H | 5290 | 602501 | Megalencephaly cutis marmorata telangiectatica congenita | 602501 | C1865285 | OMIM | 1 | | 1159 | 8975 | 171834 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | PIK3R2 CL E G H | 5296 | 83473 | | | | ORPHA | 1 | | 355 | 8980 | 603157 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | PIK3R2 CL E G H | 5296 | 83473 | | | | ORPHA | 1 | | 355 | 8980 | 603157 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | PIK3R2 CL E G H | 5296 | 83473 | | | | ORPHA | 1 | | 355 | 8980 | 603157 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | PIK3R2 CL E G H | 5296 | 83473 | | | | ORPHA | 1 | | 355 | 8980 | 603157 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | PIK3R2 CL E G H | 5296 | 603387 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 603387 | C1863924 | OMIM | 1 | | 355 | 8980 | 603157 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | PIK3R2 CL E G H | 5296 | 603387 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 603387 | C1863924 | OMIM | 1 | | 355 | 8980 | 603157 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | PIK3R2 CL E G H | 5296 | 603387 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 603387 | C1863924 | OMIM | 1 | | 355 | 8980 | 603157 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | PIK3R2 CL E G H | 5296 | 603387 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 603387 | C1863924 | OMIM | 1 | | 355 | 8980 | 603157 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | PLG CL E G H | 5340 | 217090 | Plasminogen deficiency, type I | 217090 | C1968804 | OMIM | 1 | | 297 | 9071 | 173350 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | PLG CL E G H | 5340 | 217090 | Plasminogen deficiency, type I | 217090 | C1968804 | OMIM | 1 | | 297 | 9071 | 173350 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | PLG CL E G H | 5340 | 217090 | Plasminogen deficiency, type I | 217090 | C1968804 | OMIM | 1 | | 297 | 9071 | 173350 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | PLG CL E G H | 5340 | 217090 | Plasminogen deficiency, type I | 217090 | C1968804 | OMIM | 1 | | 297 | 9071 | 173350 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | POMGNT1 CL E G H | 55624 | 899 | | | | ORPHA | 1 | | 1174 | 19139 | 606822 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | POMGNT1 CL E G H | 55624 | 588 | | | | ORPHA | 1 | | 1174 | 19139 | 606822 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | POMGNT1 CL E G H | 55624 | 899 | | | | ORPHA | 1 | | 1174 | 19139 | 606822 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | POMGNT1 CL E G H | 55624 | 588 | | | | ORPHA | 1 | | 1174 | 19139 | 606822 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | POMGNT1 CL E G H | 55624 | 899 | | | | ORPHA | 1 | | 1174 | 19139 | 606822 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | POMGNT1 CL E G H | 55624 | 588 | | | | ORPHA | 1 | | 1174 | 19139 | 606822 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | POMGNT1 CL E G H | 55624 | 899 | | | | ORPHA | 1 | | 1174 | 19139 | 606822 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | POMGNT1 CL E G H | 55624 | 588 | | | | ORPHA | 1 | | 1174 | 19139 | 606822 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | POMGNT1 CL E G H | 55624 | 253280 | Muscle eye brain disease | 253280 | C0457133 | OMIM | 1 | | 1174 | 19139 | 606822 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | POMGNT1 CL E G H | 55624 | 253280 | Muscle eye brain disease | 253280 | C0457133 | OMIM | 1 | | 1174 | 19139 | 606822 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | POMGNT1 CL E G H | 55624 | 253280 | Muscle eye brain disease | 253280 | C0457133 | OMIM | 1 | | 1174 | 19139 | 606822 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | POMGNT1 CL E G H | 55624 | 253280 | Muscle eye brain disease | 253280 | C0457133 | OMIM | 1 | | 1174 | 19139 | 606822 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | POMGNT2 CL E G H | 84892 | 899 | | | | ORPHA | 1 | | 416 | 25902 | 614828 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | POMGNT2 CL E G H | 84892 | 899 | | | | ORPHA | 1 | | 416 | 25902 | 614828 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | POMGNT2 CL E G H | 84892 | 899 | | | | ORPHA | 1 | | 416 | 25902 | 614828 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | POMGNT2 CL E G H | 84892 | 899 | | | | ORPHA | 1 | | 416 | 25902 | 614828 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | POMGNT2 CL E G H | 84892 | 614830 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 614830 | C3553813 | OMIM | 1 | | 416 | 25902 | 614828 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | POMGNT2 CL E G H | 84892 | 614830 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 614830 | C3553813 | OMIM | 1 | | 416 | 25902 | 614828 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | POMGNT2 CL E G H | 84892 | 614830 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 614830 | C3553813 | OMIM | 1 | | 416 | 25902 | 614828 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | POMGNT2 CL E G H | 84892 | 614830 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 614830 | C3553813 | OMIM | 1 | | 416 | 25902 | 614828 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | POMK CL E G H | 84197 | 899 | | | | ORPHA | 1 | | 307 | 26267 | 615247 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | POMK CL E G H | 84197 | 899 | | | | ORPHA | 1 | | 307 | 26267 | 615247 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | POMK CL E G H | 84197 | 899 | | | | ORPHA | 1 | | 307 | 26267 | 615247 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | POMK CL E G H | 84197 | 899 | | | | ORPHA | 1 | | 307 | 26267 | 615247 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | POMT1 CL E G H | 10585 | 588 | | | | ORPHA | 1 | | 906 | 9202 | 607423 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | POMT1 CL E G H | 10585 | 899 | | | | ORPHA | 1 | | 906 | 9202 | 607423 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | POMT1 CL E G H | 10585 | 899 | | | | ORPHA | 1 | | 906 | 9202 | 607423 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | POMT1 CL E G H | 10585 | 588 | | | | ORPHA | 1 | | 906 | 9202 | 607423 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | POMT1 CL E G H | 10585 | 899 | | | | ORPHA | 1 | | 906 | 9202 | 607423 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | POMT1 CL E G H | 10585 | 588 | | | | ORPHA | 1 | | 906 | 9202 | 607423 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | POMT1 CL E G H | 10585 | 588 | | | | ORPHA | 1 | | 906 | 9202 | 607423 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | POMT1 CL E G H | 10585 | 899 | | | | ORPHA | 1 | | 906 | 9202 | 607423 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | POMT1 CL E G H | 10585 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 906 | 9202 | 607423 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | POMT1 CL E G H | 10585 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 906 | 9202 | 607423 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | POMT1 CL E G H | 10585 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 906 | 9202 | 607423 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | POMT1 CL E G H | 10585 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 906 | 9202 | 607423 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | POMT2 CL E G H | 29954 | 588 | | | | ORPHA | 1 | | 936 | 19743 | 607439 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | POMT2 CL E G H | 29954 | 899 | | | | ORPHA | 1 | | 936 | 19743 | 607439 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | POMT2 CL E G H | 29954 | 588 | | | | ORPHA | 1 | | 936 | 19743 | 607439 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | POMT2 CL E G H | 29954 | 899 | | | | ORPHA | 1 | | 936 | 19743 | 607439 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | POMT2 CL E G H | 29954 | 588 | | | | ORPHA | 1 | | 936 | 19743 | 607439 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | POMT2 CL E G H | 29954 | 899 | | | | ORPHA | 1 | | 936 | 19743 | 607439 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | POMT2 CL E G H | 29954 | 588 | | | | ORPHA | 1 | | 936 | 19743 | 607439 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | POMT2 CL E G H | 29954 | 899 | | | | ORPHA | 1 | | 936 | 19743 | 607439 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | POMT2 CL E G H | 29954 | 613150 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | 613150 | C3150411 | OMIM | 1 | | 936 | 19743 | 607439 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | POMT2 CL E G H | 29954 | 613150 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | 613150 | C3150411 | OMIM | 1 | | 936 | 19743 | 607439 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | POMT2 CL E G H | 29954 | 613150 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | 613150 | C3150411 | OMIM | 1 | | 936 | 19743 | 607439 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | POMT2 CL E G H | 29954 | 613150 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | 613150 | C3150411 | OMIM | 1 | | 936 | 19743 | 607439 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | POMT2 CL E G H | 29954 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 936 | 19743 | 607439 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | POMT2 CL E G H | 29954 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 936 | 19743 | 607439 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | POMT2 CL E G H | 29954 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 936 | 19743 | 607439 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | POMT2 CL E G H | 29954 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 936 | 19743 | 607439 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | POR CL E G H | 5447 | 207410 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | 207410 | C2936791 | OMIM | 1 | | 512 | 9208 | 124015 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | POR CL E G H | 5447 | 207410 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | 207410 | C2936791 | OMIM | 1 | | 512 | 9208 | 124015 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | POR CL E G H | 5447 | 207410 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | 207410 | C2936791 | OMIM | 1 | | 512 | 9208 | 124015 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | POR CL E G H | 5447 | 207410 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | 207410 | C2936791 | OMIM | 1 | | 512 | 9208 | 124015 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | PORCN CL E G H | 64840 | 305600 | Focal dermal hypoplasia | 305600 | C0016395 | OMIM | 1 | | 288 | 17652 | 300651 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | PORCN CL E G H | 64840 | 305600 | Focal dermal hypoplasia | 305600 | C0016395 | OMIM | 1 | | 288 | 17652 | 300651 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | PORCN CL E G H | 64840 | 305600 | Focal dermal hypoplasia | 305600 | C0016395 | OMIM | 1 | | 288 | 17652 | 300651 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | PORCN CL E G H | 64840 | 305600 | Focal dermal hypoplasia | 305600 | C0016395 | OMIM | 1 | | 288 | 17652 | 300651 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | PPP1CB CL E G H | 5500 | 2701 | Noonan syndrome-like disorder with loose anagen hair | | C3501846 | ORPHA | 1 | | 215 | 9282 | 600590 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | PPP1CB CL E G H | 5500 | 2701 | Noonan syndrome-like disorder with loose anagen hair | | C3501846 | ORPHA | 1 | | 215 | 9282 | 600590 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | PPP1CB CL E G H | 5500 | 2701 | Noonan syndrome-like disorder with loose anagen hair | | C3501846 | ORPHA | 1 | | 215 | 9282 | 600590 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | PPP1CB CL E G H | 5500 | 2701 | Noonan syndrome-like disorder with loose anagen hair | | C3501846 | ORPHA | 1 | | 215 | 9282 | 600590 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | PPP2R1A CL E G H | 5518 | 616362 | Mental retardation, autosomal dominant 36 | 616362 | C4225352 | OMIM | 1 | | 358 | 9302 | 605983 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | PPP2R1A CL E G H | 5518 | 616362 | Mental retardation, autosomal dominant 36 | 616362 | C4225352 | OMIM | 1 | | 358 | 9302 | 605983 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | PPP2R1A CL E G H | 5518 | 616362 | Mental retardation, autosomal dominant 36 | 616362 | C4225352 | OMIM | 1 | | 358 | 9302 | 605983 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | PPP2R1A CL E G H | 5518 | 616362 | Mental retardation, autosomal dominant 36 | 616362 | C4225352 | OMIM | 1 | | 358 | 9302 | 605983 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | PPP2R5D CL E G H | 5528 | 616355 | Mental retardation, autosomal dominant 35 | 616355 | C4225354 | OMIM | 1 | | 397 | 9312 | 601646 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | PPP2R5D CL E G H | 5528 | 616355 | Mental retardation, autosomal dominant 35 | 616355 | C4225354 | OMIM | 1 | | 397 | 9312 | 601646 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | PPP2R5D CL E G H | 5528 | 616355 | Mental retardation, autosomal dominant 35 | 616355 | C4225354 | OMIM | 1 | | 397 | 9312 | 601646 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | PPP2R5D CL E G H | 5528 | 616355 | Mental retardation, autosomal dominant 35 | 616355 | C4225354 | OMIM | 1 | | 397 | 9312 | 601646 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | PRDX1 CL E G H | 5052 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 64 | 9352 | 176763 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | PRDX1 CL E G H | 5052 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 64 | 9352 | 176763 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | PRDX1 CL E G H | 5052 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 64 | 9352 | 176763 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | PRDX1 CL E G H | 5052 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 64 | 9352 | 176763 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | PRKAR1A CL E G H | 5573 | 101800 | Acrodysostosis 1 with or without hormone resistance | 101800 | C3276228 | OMIM | 1 | | 1131 | 9388 | 188830 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | PRKAR1A CL E G H | 5573 | 101800 | Acrodysostosis 1 with or without hormone resistance | 101800 | C3276228 | OMIM | 1 | | 1131 | 9388 | 188830 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | PRKAR1A CL E G H | 5573 | 101800 | Acrodysostosis 1 with or without hormone resistance | 101800 | C3276228 | OMIM | 1 | | 1131 | 9388 | 188830 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | PRKAR1A CL E G H | 5573 | 101800 | Acrodysostosis 1 with or without hormone resistance | 101800 | C3276228 | OMIM | 1 | | 1131 | 9388 | 188830 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | PTCH1 CL E G H | 5727 | 77301 | | | | ORPHA | 1 | | 4487 | 9585 | 601309 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | PTCH1 CL E G H | 5727 | 77301 | | | | ORPHA | 1 | | 4487 | 9585 | 601309 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | PTCH1 CL E G H | 5727 | 77301 | | | | ORPHA | 1 | | 4487 | 9585 | 601309 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | PTCH1 CL E G H | 5727 | 77301 | | | | ORPHA | 1 | | 4487 | 9585 | 601309 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | PTCH1 CL E G H | 5727 | 109400 | Gorlin syndrome | 109400 | C0004779 | OMIM | 1 | | 4487 | 9585 | 601309 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | PTCH1 CL E G H | 5727 | 109400 | Gorlin syndrome | 109400 | C0004779 | OMIM | 1 | | 4487 | 9585 | 601309 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | PTCH1 CL E G H | 5727 | 109400 | Gorlin syndrome | 109400 | C0004779 | OMIM | 1 | | 4487 | 9585 | 601309 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | PTCH1 CL E G H | 5727 | 109400 | Gorlin syndrome | 109400 | C0004779 | OMIM | 1 | | 4487 | 9585 | 601309 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | PTCH1 CL E G H | 5727 | 610828 | Holoprosencephaly 7 | 610828 | C1835820 | OMIM | 1 | | 4487 | 9585 | 601309 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | PTCH1 CL E G H | 5727 | 610828 | Holoprosencephaly 7 | 610828 | C1835820 | OMIM | 1 | | 4487 | 9585 | 601309 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | PTCH1 CL E G H | 5727 | 610828 | Holoprosencephaly 7 | 610828 | C1835820 | OMIM | 1 | | 4487 | 9585 | 601309 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | PTCH1 CL E G H | 5727 | 610828 | Holoprosencephaly 7 | 610828 | C1835820 | OMIM | 1 | | 4487 | 9585 | 601309 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | PTCH2 CL E G H | 8643 | 109400 | Gorlin syndrome | 109400 | C0004779 | OMIM | 1 | | 791 | 9586 | 603673 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | PTCH2 CL E G H | 8643 | 109400 | Gorlin syndrome | 109400 | C0004779 | OMIM | 1 | | 791 | 9586 | 603673 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | PTCH2 CL E G H | 8643 | 109400 | Gorlin syndrome | 109400 | C0004779 | OMIM | 1 | | 791 | 9586 | 603673 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | PTCH2 CL E G H | 8643 | 109400 | Gorlin syndrome | 109400 | C0004779 | OMIM | 1 | | 791 | 9586 | 603673 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | PTEN CL E G H | 5728 | 65285 | | | | ORPHA | 1 | | 3012 | 9588 | 601728 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | PTEN CL E G H | 5728 | 65285 | | | | ORPHA | 1 | | 3012 | 9588 | 601728 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | PTEN CL E G H | 5728 | 65285 | | | | ORPHA | 1 | | 3012 | 9588 | 601728 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | PTEN CL E G H | 5728 | 65285 | | | | ORPHA | 1 | | 3012 | 9588 | 601728 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | PYCR1 CL E G H | 5831 | 612940 | Autosomal recessive cutis laxa type 2B | 612940 | C2751987 | OMIM | 1 | | 287 | 9721 | 179035 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | PYCR1 CL E G H | 5831 | 612940 | Autosomal recessive cutis laxa type 2B | 612940 | C2751987 | OMIM | 1 | | 287 | 9721 | 179035 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | PYCR1 CL E G H | 5831 | 612940 | Autosomal recessive cutis laxa type 2B | 612940 | C2751987 | OMIM | 1 | | 287 | 9721 | 179035 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | PYCR1 CL E G H | 5831 | 612940 | Autosomal recessive cutis laxa type 2B | 612940 | C2751987 | OMIM | 1 | | 287 | 9721 | 179035 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | RAD51 CL E G H | 5888 | 617244 | Fanconi anemia, complementation group R | 617244 | C4284093 | OMIM | 1 | | 358 | 9817 | 179617 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | RAD51 CL E G H | 5888 | 617244 | Fanconi anemia, complementation group R | 617244 | C4284093 | OMIM | 1 | | 358 | 9817 | 179617 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | RAD51 CL E G H | 5888 | 617244 | Fanconi anemia, complementation group R | 617244 | C4284093 | OMIM | 1 | | 358 | 9817 | 179617 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | RAD51 CL E G H | 5888 | 617244 | Fanconi anemia, complementation group R | 617244 | C4284093 | OMIM | 1 | | 358 | 9817 | 179617 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | RAP1A CL E G H | 5906 | 2322 | | | | ORPHA | 1 | | 41 | 9855 | 179520 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | RAP1A CL E G H | 5906 | 2322 | | | | ORPHA | 1 | | 41 | 9855 | 179520 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | RAP1A CL E G H | 5906 | 2322 | | | | ORPHA | 1 | | 41 | 9855 | 179520 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | RAP1A CL E G H | 5906 | 2322 | | | | ORPHA | 1 | | 41 | 9855 | 179520 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | RAP1B CL E G H | 5908 | 2322 | | | | ORPHA | 1 | | 35 | 9857 | 179530 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | RAP1B CL E G H | 5908 | 2322 | | | | ORPHA | 1 | | 35 | 9857 | 179530 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | RAP1B CL E G H | 5908 | 2322 | | | | ORPHA | 1 | | 35 | 9857 | 179530 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | RAP1B CL E G H | 5908 | 2322 | | | | ORPHA | 1 | | 35 | 9857 | 179530 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | RAPSN CL E G H | 5913 | 208150 | Pena-Shokeir syndrome type I | 208150 | C1276035 | OMIM | 1 | | 562 | 9863 | 601592 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | RAPSN CL E G H | 5913 | 208150 | Pena-Shokeir syndrome type I | 208150 | C1276035 | OMIM | 1 | | 562 | 9863 | 601592 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | RAPSN CL E G H | 5913 | 208150 | Pena-Shokeir syndrome type I | 208150 | C1276035 | OMIM | 1 | | 562 | 9863 | 601592 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | RAPSN CL E G H | 5913 | 208150 | Pena-Shokeir syndrome type I | 208150 | C1276035 | OMIM | 1 | | 562 | 9863 | 601592 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | RBPJ CL E G H | 3516 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 1 | | 186 | 5724 | 147183 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | RBPJ CL E G H | 3516 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 1 | | 186 | 5724 | 147183 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | RBPJ CL E G H | 3516 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 1 | | 186 | 5724 | 147183 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | RBPJ CL E G H | 3516 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 1 | | 186 | 5724 | 147183 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | RECQL4 CL E G H | 9401 | 218600 | Baller-Gerold syndrome | 218600 | C0265308 | OMIM | 1 | | 4259 | 9949 | 603780 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | RECQL4 CL E G H | 9401 | 218600 | Baller-Gerold syndrome | 218600 | C0265308 | OMIM | 1 | | 4259 | 9949 | 603780 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | RECQL4 CL E G H | 9401 | 218600 | Baller-Gerold syndrome | 218600 | C0265308 | OMIM | 1 | | 4259 | 9949 | 603780 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | RECQL4 CL E G H | 9401 | 218600 | Baller-Gerold syndrome | 218600 | C0265308 | OMIM | 1 | | 4259 | 9949 | 603780 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | RNASEH2A CL E G H | 10535 | 610333 | Aicardi Goutieres syndrome 4 | 610333 | C1835912 | OMIM | 1 | | 404 | 18518 | 606034 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | RNASEH2A CL E G H | 10535 | 610333 | Aicardi Goutieres syndrome 4 | 610333 | C1835912 | OMIM | 1 | | 404 | 18518 | 606034 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | RNASEH2A CL E G H | 10535 | 610333 | Aicardi Goutieres syndrome 4 | 610333 | C1835912 | OMIM | 1 | | 404 | 18518 | 606034 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | RNASEH2A CL E G H | 10535 | 610333 | Aicardi Goutieres syndrome 4 | 610333 | C1835912 | OMIM | 1 | | 404 | 18518 | 606034 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | RNF125 CL E G H | 54941 | 616260 | Tenorio syndrome | 616260 | C4015710 | OMIM | 1 | | 107 | 21150 | 610432 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | RNF125 CL E G H | 54941 | 616260 | Tenorio syndrome | 616260 | C4015710 | OMIM | 1 | | 107 | 21150 | 610432 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | RNF125 CL E G H | 54941 | 616260 | Tenorio syndrome | 616260 | C4015710 | OMIM | 1 | | 107 | 21150 | 610432 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | RNF125 CL E G H | 54941 | 616260 | Tenorio syndrome | 616260 | C4015710 | OMIM | 1 | | 107 | 21150 | 610432 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | RSPO2 CL E G H | 340419 | 3301 | Lowry syndrome | | | ORPHA | 1 | | 90 | 28583 | 610575 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | RSPO2 CL E G H | 340419 | 3301 | Lowry syndrome | | | ORPHA | 1 | | 90 | 28583 | 610575 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | RSPO2 CL E G H | 340419 | 3301 | Lowry syndrome | | | ORPHA | 1 | | 90 | 28583 | 610575 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | RSPO2 CL E G H | 340419 | 3301 | Lowry syndrome | | | ORPHA | 1 | | 90 | 28583 | 610575 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | RXYLT1 CL E G H | 10329 | 899 | | | | ORPHA | 1 | | 273 | 13530 | 605862 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | RXYLT1 CL E G H | 10329 | 899 | | | | ORPHA | 1 | | 273 | 13530 | 605862 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | RXYLT1 CL E G H | 10329 | 899 | | | | ORPHA | 1 | | 273 | 13530 | 605862 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | RXYLT1 CL E G H | 10329 | 899 | | | | ORPHA | 1 | | 273 | 13530 | 605862 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | SEC24D CL E G H | 9871 | 616294 | Cole-Carpenter syndrome 2 | 616294 | C4225382 | OMIM | 1 | | 416 | 10706 | 607186 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | SEC24D CL E G H | 9871 | 616294 | Cole-Carpenter syndrome 2 | 616294 | C4225382 | OMIM | 1 | | 416 | 10706 | 607186 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | SEC24D CL E G H | 9871 | 616294 | Cole-Carpenter syndrome 2 | 616294 | C4225382 | OMIM | 1 | | 416 | 10706 | 607186 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | SEC24D CL E G H | 9871 | 616294 | Cole-Carpenter syndrome 2 | 616294 | C4225382 | OMIM | 1 | | 416 | 10706 | 607186 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | SF3B4 CL E G H | 10262 | 154400 | Nager syndrome | 154400 | C0265245 | OMIM | 1 | | 105 | 10771 | 605593 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | SF3B4 CL E G H | 10262 | 154400 | Nager syndrome | 154400 | C0265245 | OMIM | 1 | | 105 | 10771 | 605593 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | SF3B4 CL E G H | 10262 | 154400 | Nager syndrome | 154400 | C0265245 | OMIM | 1 | | 105 | 10771 | 605593 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | SF3B4 CL E G H | 10262 | 154400 | Nager syndrome | 154400 | C0265245 | OMIM | 1 | | 105 | 10771 | 605593 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | SHOC2 CL E G H | 8036 | 2701 | Noonan syndrome-like disorder with loose anagen hair | | C3501846 | ORPHA | 1 | | 452 | 15454 | 602775 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | SHOC2 CL E G H | 8036 | 2701 | Noonan syndrome-like disorder with loose anagen hair | | C3501846 | ORPHA | 1 | | 452 | 15454 | 602775 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | SHOC2 CL E G H | 8036 | 2701 | Noonan syndrome-like disorder with loose anagen hair | | C3501846 | ORPHA | 1 | | 452 | 15454 | 602775 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | SHOC2 CL E G H | 8036 | 2701 | Noonan syndrome-like disorder with loose anagen hair | | C3501846 | ORPHA | 1 | | 452 | 15454 | 602775 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | SIK3 CL E G H | 23387 | 618162 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE | 618162 | | OMIM | 1 | | 86 | 29165 | 614776 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | SIK3 CL E G H | 23387 | 618162 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE | 618162 | | OMIM | 1 | | 86 | 29165 | 614776 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | SIK3 CL E G H | 23387 | 618162 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE | 618162 | | OMIM | 1 | | 86 | 29165 | 614776 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | SIK3 CL E G H | 23387 | 618162 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE | 618162 | | OMIM | 1 | | 86 | 29165 | 614776 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | SLC17A5 CL E G H | 26503 | 269920 | Sialic acid storage disease, severe infantile type | 269920 | C1096902 | OMIM | 1 | | 520 | 10933 | 604322 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | SLC17A5 CL E G H | 26503 | 269920 | Sialic acid storage disease, severe infantile type | 269920 | C1096902 | OMIM | 1 | | 520 | 10933 | 604322 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | SLC17A5 CL E G H | 26503 | 269920 | Sialic acid storage disease, severe infantile type | 269920 | C1096902 | OMIM | 1 | | 520 | 10933 | 604322 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | SLC17A5 CL E G H | 26503 | 269920 | Sialic acid storage disease, severe infantile type | 269920 | C1096902 | OMIM | 1 | | 520 | 10933 | 604322 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | SLC25A24 CL E G H | 29957 | 612289 | Fontaine progeroid syndrome | 612289 | C2676780 | OMIM | 1 | | 123 | 20662 | 608744 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | SLC25A24 CL E G H | 29957 | 612289 | Fontaine progeroid syndrome | 612289 | C2676780 | OMIM | 1 | | 123 | 20662 | 608744 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | SLC25A24 CL E G H | 29957 | 612289 | Fontaine progeroid syndrome | 612289 | C2676780 | OMIM | 1 | | 123 | 20662 | 608744 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | SLC25A24 CL E G H | 29957 | 612289 | Fontaine progeroid syndrome | 612289 | C2676780 | OMIM | 1 | | 123 | 20662 | 608744 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | SMARCB1 CL E G H | 6598 | 99966 | | | | ORPHA | 1 | | 1043 | 11103 | 601607 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | SMARCB1 CL E G H | 6598 | 99966 | | | | ORPHA | 1 | | 1043 | 11103 | 601607 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | SMARCB1 CL E G H | 6598 | 99966 | | | | ORPHA | 1 | | 1043 | 11103 | 601607 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | SMARCB1 CL E G H | 6598 | 99966 | | | | ORPHA | 1 | | 1043 | 11103 | 601607 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | SNX10 CL E G H | 29887 | 667 | | | | ORPHA | 1 | | 147 | 14974 | 614780 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | SNX10 CL E G H | 29887 | 667 | | | | ORPHA | 1 | | 147 | 14974 | 614780 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | SNX10 CL E G H | 29887 | 667 | | | | ORPHA | 1 | | 147 | 14974 | 614780 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | SNX10 CL E G H | 29887 | 667 | | | | ORPHA | 1 | | 147 | 14974 | 614780 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | SOX9 CL E G H | 6662 | 114290 | Camptomelic dysplasia | 114290 | C1861922 | OMIM | 1 | | 363 | 11204 | 608160 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | SOX9 CL E G H | 6662 | 114290 | Camptomelic dysplasia | 114290 | C1861922 | OMIM | 1 | | 363 | 11204 | 608160 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | SOX9 CL E G H | 6662 | 114290 | Camptomelic dysplasia | 114290 | C1861922 | OMIM | 1 | | 363 | 11204 | 608160 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | SOX9 CL E G H | 6662 | 114290 | Camptomelic dysplasia | 114290 | C1861922 | OMIM | 1 | | 363 | 11204 | 608160 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | SUFU CL E G H | 51684 | 109400 | Gorlin syndrome | 109400 | C0004779 | OMIM | 1 | | 1306 | 16466 | 607035 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | SUFU CL E G H | 51684 | 109400 | Gorlin syndrome | 109400 | C0004779 | OMIM | 1 | | 1306 | 16466 | 607035 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | SUFU CL E G H | 51684 | 109400 | Gorlin syndrome | 109400 | C0004779 | OMIM | 1 | | 1306 | 16466 | 607035 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | SUFU CL E G H | 51684 | 109400 | Gorlin syndrome | 109400 | C0004779 | OMIM | 1 | | 1306 | 16466 | 607035 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | SUMF1 CL E G H | 285362 | 585 | | | | ORPHA | 1 | | 746 | 20376 | 607939 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | SUMF1 CL E G H | 285362 | 585 | | | | ORPHA | 1 | | 746 | 20376 | 607939 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | SUMF1 CL E G H | 285362 | 585 | | | | ORPHA | 1 | | 746 | 20376 | 607939 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | SUMF1 CL E G H | 285362 | 585 | | | | ORPHA | 1 | | 746 | 20376 | 607939 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | SUMF1 CL E G H | 285362 | 272200 | Multiple sulfatase deficiency | 272200 | C0268263 | OMIM | 1 | | 746 | 20376 | 607939 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | SUMF1 CL E G H | 285362 | 272200 | Multiple sulfatase deficiency | 272200 | C0268263 | OMIM | 1 | | 746 | 20376 | 607939 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | SUMF1 CL E G H | 285362 | 272200 | Multiple sulfatase deficiency | 272200 | C0268263 | OMIM | 1 | | 746 | 20376 | 607939 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | SUMF1 CL E G H | 285362 | 272200 | Multiple sulfatase deficiency | 272200 | C0268263 | OMIM | 1 | | 746 | 20376 | 607939 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | TBX15 CL E G H | 6913 | 260660 | Cousin syndrome | 260660 | C1850040 | OMIM | 1 | | 186 | 11594 | 604127 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | TBX15 CL E G H | 6913 | 260660 | Cousin syndrome | 260660 | C1850040 | OMIM | 1 | | 186 | 11594 | 604127 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | TBX15 CL E G H | 6913 | 260660 | Cousin syndrome | 260660 | C1850040 | OMIM | 1 | | 186 | 11594 | 604127 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | TBX15 CL E G H | 6913 | 260660 | Cousin syndrome | 260660 | C1850040 | OMIM | 1 | | 186 | 11594 | 604127 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | TCIRG1 CL E G H | 10312 | 667 | | | | ORPHA | 1 | | 1157 | 11647 | 604592 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | TCIRG1 CL E G H | 10312 | 667 | | | | ORPHA | 1 | | 1157 | 11647 | 604592 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | TCIRG1 CL E G H | 10312 | 667 | | | | ORPHA | 1 | | 1157 | 11647 | 604592 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | TCIRG1 CL E G H | 10312 | 667 | | | | ORPHA | 1 | | 1157 | 11647 | 604592 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | TCIRG1 CL E G H | 10312 | 259700 | Osteopetrosis autosomal recessive 1 | 259700 | C1850127 | OMIM | 1 | | 1157 | 11647 | 604592 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | TCIRG1 CL E G H | 10312 | 259700 | Osteopetrosis autosomal recessive 1 | 259700 | C1850127 | OMIM | 1 | | 1157 | 11647 | 604592 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | TCIRG1 CL E G H | 10312 | 259700 | Osteopetrosis autosomal recessive 1 | 259700 | C1850127 | OMIM | 1 | | 1157 | 11647 | 604592 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | TCIRG1 CL E G H | 10312 | 259700 | Osteopetrosis autosomal recessive 1 | 259700 | C1850127 | OMIM | 1 | | 1157 | 11647 | 604592 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | TMEM237 CL E G H | 65062 | 614424 | Joubert syndrome 14 | 614424 | C3280766 | OMIM | 1 | | 466 | 14432 | 614423 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | TMEM237 CL E G H | 65062 | 614424 | Joubert syndrome 14 | 614424 | C3280766 | OMIM | 1 | | 466 | 14432 | 614423 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | TMEM237 CL E G H | 65062 | 614424 | Joubert syndrome 14 | 614424 | C3280766 | OMIM | 1 | | 466 | 14432 | 614423 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | TMEM237 CL E G H | 65062 | 614424 | Joubert syndrome 14 | 614424 | C3280766 | OMIM | 1 | | 466 | 14432 | 614423 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | TNFRSF11A CL E G H | 8792 | 612301 | Osteopetrosis autosomal recessive 7 | 612301 | C2676766 | OMIM | 1 | | 572 | 11908 | 603499 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | TNFRSF11A CL E G H | 8792 | 612301 | Osteopetrosis autosomal recessive 7 | 612301 | C2676766 | OMIM | 1 | | 572 | 11908 | 603499 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | TNFRSF11A CL E G H | 8792 | 612301 | Osteopetrosis autosomal recessive 7 | 612301 | C2676766 | OMIM | 1 | | 572 | 11908 | 603499 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | TNFRSF11A CL E G H | 8792 | 612301 | Osteopetrosis autosomal recessive 7 | 612301 | C2676766 | OMIM | 1 | | 572 | 11908 | 603499 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | TNFSF11 CL E G H | 8600 | 667 | | | | ORPHA | 1 | | 246 | 11926 | 602642 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | TNFSF11 CL E G H | 8600 | 667 | | | | ORPHA | 1 | | 246 | 11926 | 602642 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | TNFSF11 CL E G H | 8600 | 667 | | | | ORPHA | 1 | | 246 | 11926 | 602642 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | TNFSF11 CL E G H | 8600 | 667 | | | | ORPHA | 1 | | 246 | 11926 | 602642 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | TP53 CL E G H | 7157 | 2807 | | | | ORPHA | 1 | | 2977 | 11998 | 191170 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | TP53 CL E G H | 7157 | 2807 | | | | ORPHA | 1 | | 2977 | 11998 | 191170 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | TP53 CL E G H | 7157 | 2807 | | | | ORPHA | 1 | | 2977 | 11998 | 191170 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | TP53 CL E G H | 7157 | 2807 | | | | ORPHA | 1 | | 2977 | 11998 | 191170 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | VANGL2 CL E G H | 57216 | 182940 | Neural tube defect | 182940 | C0027794 | OMIM | 1 | | 38 | 15511 | 600533 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | VANGL2 CL E G H | 57216 | 182940 | Neural tube defect | 182940 | C0027794 | OMIM | 1 | | 38 | 15511 | 600533 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | VANGL2 CL E G H | 57216 | 182940 | Neural tube defect | 182940 | C0027794 | OMIM | 1 | | 38 | 15511 | 600533 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | VANGL2 CL E G H | 57216 | 182940 | Neural tube defect | 182940 | C0027794 | OMIM | 1 | | 38 | 15511 | 600533 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | VHL CL E G H | 7428 | 892 | Billet Bear syndrome | | | ORPHA | 1 | | 1805 | 12687 | 608537 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | VHL CL E G H | 7428 | 892 | Billet Bear syndrome | | | ORPHA | 1 | | 1805 | 12687 | 608537 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | VHL CL E G H | 7428 | 892 | Billet Bear syndrome | | | ORPHA | 1 | | 1805 | 12687 | 608537 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | VHL CL E G H | 7428 | 892 | Billet Bear syndrome | | | ORPHA | 1 | | 1805 | 12687 | 608537 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | VSX1 CL E G H | 30813 | 614195 | Craniofacial anomalies and anterior segment dysgenesis syndrome | 614195 | C3280099 | OMIM | 1 | | 130 | 12723 | 605020 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | VSX1 CL E G H | 30813 | 614195 | Craniofacial anomalies and anterior segment dysgenesis syndrome | 614195 | C3280099 | OMIM | 1 | | 130 | 12723 | 605020 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | VSX1 CL E G H | 30813 | 614195 | Craniofacial anomalies and anterior segment dysgenesis syndrome | 614195 | C3280099 | OMIM | 1 | | 130 | 12723 | 605020 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | VSX1 CL E G H | 30813 | 614195 | Craniofacial anomalies and anterior segment dysgenesis syndrome | 614195 | C3280099 | OMIM | 1 | | 130 | 12723 | 605020 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | WASHC5 CL E G H | 9897 | 220210 | Dandy-Walker like malformation with atrioventricular septal defect | 220210 | C0796137 | OMIM | 1 | | 638 | 28984 | 610657 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | WASHC5 CL E G H | 9897 | 220210 | Dandy-Walker like malformation with atrioventricular septal defect | 220210 | C0796137 | OMIM | 1 | | 638 | 28984 | 610657 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | WASHC5 CL E G H | 9897 | 220210 | Dandy-Walker like malformation with atrioventricular septal defect | 220210 | C0796137 | OMIM | 1 | | 638 | 28984 | 610657 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | WASHC5 CL E G H | 9897 | 220210 | Dandy-Walker like malformation with atrioventricular septal defect | 220210 | C0796137 | OMIM | 1 | | 638 | 28984 | 610657 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | WASHC5 CL E G H | 9897 | 7 | Typical Joubert syndrome MRI findings | | CN228298 | ORPHA | 1 | | 638 | 28984 | 610657 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | WASHC5 CL E G H | 9897 | 7 | Typical Joubert syndrome MRI findings | | CN228298 | ORPHA | 1 | | 638 | 28984 | 610657 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | WASHC5 CL E G H | 9897 | 7 | Typical Joubert syndrome MRI findings | | CN228298 | ORPHA | 1 | | 638 | 28984 | 610657 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | WASHC5 CL E G H | 9897 | 7 | Typical Joubert syndrome MRI findings | | CN228298 | ORPHA | 1 | | 638 | 28984 | 610657 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | WDR81 CL E G H | 124997 | 617967 | HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES | 617967 | CN252328 | OMIM | 1 | | 420 | 26600 | 614218 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | WDR81 CL E G H | 124997 | 617967 | HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES | 617967 | CN252328 | OMIM | 1 | | 420 | 26600 | 614218 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | WDR81 CL E G H | 124997 | 617967 | HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES | 617967 | CN252328 | OMIM | 1 | | 420 | 26600 | 614218 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | WDR81 CL E G H | 124997 | 617967 | HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES | 617967 | CN252328 | OMIM | 1 | | 420 | 26600 | 614218 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | WNT3 CL E G H | 7473 | 3301 | Lowry syndrome | | | ORPHA | 1 | | 102 | 12782 | 165330 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | WNT3 CL E G H | 7473 | 3301 | Lowry syndrome | | | ORPHA | 1 | | 102 | 12782 | 165330 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | WNT3 CL E G H | 7473 | 3301 | Lowry syndrome | | | ORPHA | 1 | | 102 | 12782 | 165330 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | WNT3 CL E G H | 7473 | 3301 | Lowry syndrome | | | ORPHA | 1 | | 102 | 12782 | 165330 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | WNT3 CL E G H | 7473 | 273395 | Tetraamelia, autosomal recessive | 273395 | C4012268 | OMIM | 1 | | 102 | 12782 | 165330 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | WNT3 CL E G H | 7473 | 273395 | Tetraamelia, autosomal recessive | 273395 | C4012268 | OMIM | 1 | | 102 | 12782 | 165330 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | WNT3 CL E G H | 7473 | 273395 | Tetraamelia, autosomal recessive | 273395 | C4012268 | OMIM | 1 | | 102 | 12782 | 165330 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | WNT3 CL E G H | 7473 | 273395 | Tetraamelia, autosomal recessive | 273395 | C4012268 | OMIM | 1 | | 102 | 12782 | 165330 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | ZBTB20 CL E G H | 26137 | 3042 | | | | ORPHA | 1 | | 252 | 13503 | 606025 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | ZBTB20 CL E G H | 26137 | 3042 | | | | ORPHA | 1 | | 252 | 13503 | 606025 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | ZBTB20 CL E G H | 26137 | 3042 | | | | ORPHA | 1 | | 252 | 13503 | 606025 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | ZBTB20 CL E G H | 26137 | 3042 | | | | ORPHA | 1 | | 252 | 13503 | 606025 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | ZIC2 CL E G H | 7546 | 609637 | Holoprosencephaly 5 | 609637 | C1864827 | OMIM | 1 | | 360 | 12873 | 603073 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | ZIC2 CL E G H | 7546 | 609637 | Holoprosencephaly 5 | 609637 | C1864827 | OMIM | 1 | | 360 | 12873 | 603073 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | ZIC2 CL E G H | 7546 | 609637 | Holoprosencephaly 5 | 609637 | C1864827 | OMIM | 1 | | 360 | 12873 | 603073 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | ZIC2 CL E G H | 7546 | 609637 | Holoprosencephaly 5 | 609637 | C1864827 | OMIM | 1 | | 360 | 12873 | 603073 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | ZIC3 CL E G H | 7547 | 314390 | VACTERL association with hydrocephaly, X-linked | 314390 | C1839115 | OMIM | 1 | | 301 | 12874 | 300265 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | ZIC3 CL E G H | 7547 | 314390 | VACTERL association with hydrocephaly, X-linked | 314390 | C1839115 | OMIM | 1 | | 301 | 12874 | 300265 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | ZIC3 CL E G H | 7547 | 314390 | VACTERL association with hydrocephaly, X-linked | 314390 | C1839115 | OMIM | 1 | | 301 | 12874 | 300265 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | ZIC3 CL E G H | 7547 | 314390 | VACTERL association with hydrocephaly, X-linked | 314390 | C1839115 | OMIM | 1 | | 301 | 12874 | 300265 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | ZNHIT3 CL E G H | 9326 | 2836 | | | | ORPHA | 1 | | 136 | 12309 | 604500 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | ZNHIT3 CL E G H | 9326 | 2836 | | | | ORPHA | 1 | | 136 | 12309 | 604500 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | ZNHIT3 CL E G H | 9326 | 2836 | | | | ORPHA | 1 | | 136 | 12309 | 604500 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | ZNHIT3 CL E G H | 9326 | 2836 | | | | ORPHA | 1 | | 136 | 12309 | 604500 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 0 | | 1194 | 21575 | 608894 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1194 | 21575 | 608894 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | ALG13 CL E G H | 79868 | 300884 | Epileptic encephalopathy, early infantile, 36 | 300884 | C3550904 | OMIM | 0 | | 950 | 30881 | 300776 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 0 | | 241 | 560 | 300629 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | ARL13B CL E G H | 200894 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 340 | 25419 | 608922 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | ARL3 CL E G H | 403 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 137 | 694 | 604695 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | ARMC9 CL E G H | 80210 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 631 | 20730 | 617612 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | ARVCF CL E G H | 421 | 567 | | | | ORPHA | 0 | | 620 | 728 | 602269 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | B9D1 CL E G H | 27077 | 564 | | | | ORPHA | 0 | | 310 | 24123 | 614144 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | B9D1 CL E G H | 27077 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 310 | 24123 | 614144 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | B9D2 CL E G H | 80776 | 564 | | | | ORPHA | 0 | | 73 | 28636 | 611951 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | BRAF CL E G H | 673 | 54595 | | | | ORPHA | 0 | | 1182 | 1097 | 164757 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | BRAF CL E G H | 673 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 1182 | 1097 | 164757 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | BRCA1 CL E G H | 672 | 84 | | | | ORPHA | 0 | | 13955 | 1100 | 113705 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | BRCA2 CL E G H | 675 | 84 | | | | ORPHA | 0 | | 17543 | 1101 | 600185 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | BRIP1 CL E G H | 83990 | 84 | | | | ORPHA | 0 | | 5110 | 20473 | 605882 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | CC2D2A CL E G H | 57545 | 2318 | | | | ORPHA | 0 | | 1525 | 29253 | 612013 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | CC2D2A CL E G H | 57545 | 564 | | | | ORPHA | 0 | | 1525 | 29253 | 612013 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | CC2D2A CL E G H | 57545 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 0 | | 1525 | 29253 | 612013 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | CC2D2A CL E G H | 57545 | 612284 | Meckel syndrome type 6 | 612284 | C2676790 | OMIM | 0 | | 1525 | 29253 | 612013 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | CEP104 CL E G H | 9731 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 506 | 24866 | 616690 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | CEP120 CL E G H | 153241 | 220493 | | | | ORPHA | 0 | | 433 | 26690 | 613446 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | CEP120 CL E G H | 153241 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 433 | 26690 | 613446 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | CEP290 CL E G H | 80184 | 564 | | | | ORPHA | 0 | | 2944 | 29021 | 610142 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | CEP290 CL E G H | 80184 | 2318 | | | | ORPHA | 0 | | 2944 | 29021 | 610142 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | CEP290 CL E G H | 80184 | 611134 | Meckel syndrome type 4 | 611134 | C1970161 | OMIM | 0 | | 2944 | 29021 | 610142 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | CEP41 CL E G H | 95681 | 220493 | | | | ORPHA | 0 | | 435 | 12370 | 610523 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | CEP41 CL E G H | 95681 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 435 | 12370 | 610523 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | CEP55 CL E G H | 55165 | 564 | | | | ORPHA | 0 | | 89 | 1161 | 610000 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | CEP83 CL E G H | 51134 | 615862 | Nephronophthisis 18 | 615862 | C3890591 | OMIM | 0 | | 475 | 17966 | 615847 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | CLCN7 CL E G H | 1186 | 53 | | | | ORPHA | 0 | | 1009 | 2025 | 602727 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | CLIC2 CL E G H | 1193 | 300886 | Mental retardation, X-linked, syndromic 32 | 300886 | C3550913 | OMIM | 0 | | 270 | 2063 | 300138 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | COMT CL E G H | 1312 | 567 | | | | ORPHA | 0 | | 610 | 2228 | 116790 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | COX7B CL E G H | 1349 | 2556 | | | | ORPHA | 0 | | 181 | 2291 | 300885 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | CPLANE1 CL E G H | 65250 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1989 | 25801 | 614571 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | CPLX1 CL E G H | 10815 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 0 | | 206 | 2309 | 605032 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | CSPP1 CL E G H | 79848 | 564 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | CSPP1 CL E G H | 79848 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | CTBP1 CL E G H | 1487 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 0 | | 352 | 2494 | 602618 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | CTNNB1 CL E G H | 1499 | 54595 | | | | ORPHA | 0 | | 624 | 2514 | 116806 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | CTSK CL E G H | 1513 | 763 | | | | ORPHA | 0 | | 302 | 2536 | 601105 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 0 | | 463 | 19344 | 617278 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | DHCR24 CL E G H | 1718 | 35107 | | | | ORPHA | 0 | | 291 | 2859 | 606418 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 0 | | 273 | 2933 | 605377 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | ERCC4 CL E G H | 2072 | 84 | | | | ORPHA | 0 | | 726 | 3436 | 133520 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | ERF CL E G H | 2077 | 3267 | | | | ORPHA | 0 | | 178 | 3444 | 611888 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | ERF CL E G H | 2077 | 207 | Echinococcosis | | | ORPHA | 0 | | 178 | 3444 | 611888 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FAM20C CL E G H | 56975 | 259775 | Raine syndrome | 259775 | C1850106 | OMIM | 0 | | 462 | 22140 | 611061 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FANCA CL E G H | 2175 | 84 | | | | ORPHA | 0 | | 4396 | 3582 | 607139 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FANCB CL E G H | 2187 | 84 | | | | ORPHA | 0 | | 633 | 3583 | 300515 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FANCC CL E G H | 2176 | 84 | | | | ORPHA | 0 | | 1743 | 3584 | 613899 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FANCD2 CL E G H | 2177 | 84 | | | | ORPHA | 0 | | 1262 | 3585 | 613984 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FANCE CL E G H | 2178 | 84 | | | | ORPHA | 0 | | 527 | 3586 | 613976 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FANCF CL E G H | 2188 | 84 | | | | ORPHA | 0 | | 434 | 3587 | 613897 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FANCG CL E G H | 2189 | 84 | | | | ORPHA | 0 | | 790 | 3588 | 602956 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FANCI CL E G H | 55215 | 84 | | | | ORPHA | 0 | | 1506 | 25568 | 611360 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FANCL CL E G H | 55120 | 84 | | | | ORPHA | 0 | | 542 | 20748 | 608111 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FANCL CL E G H | 55120 | 614083 | Fanconi anemia, complementation group L | 614083 | C3469528 | OMIM | 0 | | 542 | 20748 | 608111 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FANCM CL E G H | 57697 | 84 | | | | ORPHA | 0 | | 2045 | 23168 | 609644 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FGFR2 CL E G H | 2263 | 1555 | | | | ORPHA | 0 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FGFR2 CL E G H | 2263 | 87 | | | | ORPHA | 0 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FGFR2 CL E G H | 2263 | 207 | Echinococcosis | | | ORPHA | 0 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FGFR3 CL E G H | 2261 | 93274 | | | | ORPHA | 0 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FGFR3 CL E G H | 2261 | 53271 | | | | ORPHA | 0 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FGFR3 CL E G H | 2261 | 1860 | | | | ORPHA | 0 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FGFR3 CL E G H | 2261 | 100800 | Achondroplasia | 100800 | C0001080 | OMIM | 0 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FGFR3 CL E G H | 2261 | 15 | Antisocial personality disorder | | | ORPHA | 0 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FGFR3 CL E G H | 2261 | 612247 | Crouzon syndrome with acanthosis nigricans | 612247 | C2677099 | OMIM | 0 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FGFRL1 CL E G H | 53834 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 0 | | 396 | 3693 | 605830 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | FIG4 CL E G H | 9896 | 3472 | Meningococcemia | | | ORPHA | 0 | | 926 | 16873 | 609390 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | GLI3 CL E G H | 2737 | 380 | | | | ORPHA | 0 | | 981 | 4319 | 165240 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | GLI3 CL E G H | 2737 | 175700 | Greig cephalopolysyndactyly syndrome | 175700 | C0265306 | OMIM | 0 | | 981 | 4319 | 165240 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 91 | 4390 | 600998 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | GP1BB CL E G H | 2812 | 567 | | | | ORPHA | 0 | | 479 | 4440 | 138720 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | HCCS CL E G H | 3052 | 2556 | | | | ORPHA | 0 | | 234 | 4837 | 300056 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | HERC1 CL E G H | 8925 | 617011 | Macrocephaly, dysmorphic facies, and psychomotor retardation | 617011 | C4310766 | OMIM | 0 | | 1115 | 4867 | 605109 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | HIRA CL E G H | 7290 | 567 | | | | ORPHA | 0 | | 476 | 4916 | 600237 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | HNRNPU CL E G H | 3192 | 238769 | | | | ORPHA | 0 | | 882 | 5048 | 602869 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | HYLS1 CL E G H | 219844 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 314 | 26558 | 610693 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | IFT172 CL E G H | 26160 | 615630 | Short-rib thoracic dysplasia 10 with or without polydactyly | 615630 | C3810175 | OMIM | 0 | | 1356 | 30391 | 607386 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | INPP5E CL E G H | 56623 | 220493 | | | | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | INPP5E CL E G H | 56623 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | INPP5E CL E G H | 56623 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | JMJD1C CL E G H | 221037 | 567 | | | | ORPHA | 0 | | 1178 | 12313 | 604503 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | KIAA0556 CL E G H | 23247 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | | 29068 | 616650 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | KIAA0586 CL E G H | 9786 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | KRAS CL E G H | 3845 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | LETM1 CL E G H | 3954 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 0 | | 367 | 6556 | 604407 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | LIG4 CL E G H | 3981 | 235 | | | | ORPHA | 0 | | 626 | 6601 | 601837 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | LMBR1 CL E G H | 64327 | 2378 | | | | ORPHA | 0 | | 422 | 13243 | 605522 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | MAD2L2 CL E G H | 10459 | 84 | | | | ORPHA | 0 | | 121 | 6764 | 604094 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | MAP2K1 CL E G H | 5604 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 493 | 6840 | 176872 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | MAP2K2 CL E G H | 5605 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 720 | 6842 | 601263 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | MC1R CL E G H | 4157 | 626 | | | | ORPHA | 0 | | 509 | 6929 | 155555 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | MFN2 CL E G H | 9927 | 99947 | | | | ORPHA | 0 | | 1222 | 16877 | 608507 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | MKS1 CL E G H | 54903 | 220493 | | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | MKS1 CL E G H | 54903 | 564 | | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | MKS1 CL E G H | 54903 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | NDUFB11 CL E G H | 54539 | 2556 | | | | ORPHA | 0 | | 209 | 20372 | 300403 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | NOTCH2 CL E G H | 4853 | 955 | | | | ORPHA | 0 | | 1122 | 7882 | 600275 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | NPHP1 CL E G H | 4867 | 220497 | | | | ORPHA | 0 | | 815 | 7905 | 607100 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | NRAS CL E G H | 4893 | 626 | | | | ORPHA | 0 | | 281 | 7989 | 164790 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 0 | | 281 | 7989 | 164790 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | NSD2 CL E G H | 7468 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 0 | | 538 | 12766 | 602952 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | NSUN2 CL E G H | 54888 | 235 | | | | ORPHA | 0 | | 566 | 25994 | 610916 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | PALB2 CL E G H | 79728 | 84 | | | | ORPHA | 0 | | 5225 | 26144 | 610355 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | PIBF1 CL E G H | 10464 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 180 | 23352 | 607532 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | PIEZO2 CL E G H | 63895 | 2461 | | | | ORPHA | 0 | | 978 | 26270 | 613629 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | PIGV CL E G H | 55650 | 239300 | Hyperphosphatasia with mental retardation syndrome 1 | 239300 | CN030519 | OMIM | 0 | | 304 | 26031 | 610274 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | PLG CL E G H | 5340 | 722 | | | | ORPHA | 0 | | 297 | 9071 | 173350 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | PLG CL E G H | 5340 | 97231 | | | | ORPHA | 0 | | 297 | 9071 | 173350 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | POMK CL E G H | 84197 | 615249 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 | 615249 | C3808964 | OMIM | 0 | | 307 | 26267 | 615247 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | PTCH1 CL E G H | 5727 | 377 | | | | ORPHA | 0 | | 4487 | 9585 | 601309 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | PTCH2 CL E G H | 8643 | 377 | | | | ORPHA | 0 | | 791 | 9586 | 603673 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | PTDSS1 CL E G H | 9791 | 2658 | | | | ORPHA | 0 | | 190 | 9587 | 612792 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | RAD51 CL E G H | 5888 | 84 | | | | ORPHA | 0 | | 358 | 9817 | 179617 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | RAD51C CL E G H | 5889 | 84 | | | | ORPHA | 0 | | 1827 | 9820 | 602774 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | RFWD3 CL E G H | 55159 | 84 | | | | ORPHA | 0 | | 326 | 25539 | 614151 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | ROGDI CL E G H | 79641 | 1946 | | | | ORPHA | 0 | | 560 | 29478 | 614574 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | RPGRIP1 CL E G H | 57096 | 564 | | | | ORPHA | 0 | | 1010 | 13436 | 605446 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | RPGRIP1L CL E G H | 23322 | 564 | | | | ORPHA | 0 | | 1494 | 29168 | 610937 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | RPGRIP1L CL E G H | 23322 | 220497 | | | | ORPHA | 0 | | 1494 | 29168 | 610937 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | RPGRIP1L CL E G H | 23322 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 0 | | 1494 | 29168 | 610937 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | RREB1 CL E G H | 6239 | 567 | | | | ORPHA | 0 | | 297 | 10449 | 602209 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | SAMD9 CL E G H | 54809 | 617053 | Mirage syndrome | 617053 | C4284088 | OMIM | 0 | | 748 | 1348 | 610456 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | SEC24C CL E G H | 9632 | 567 | | | | ORPHA | 0 | | 58 | 10705 | 607185 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | SKI CL E G H | 6497 | 182212 | Shprintzen-Goldberg syndrome | 182212 | C1321551 | OMIM | 0 | | 1062 | 10896 | 164780 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | SLC13A5 CL E G H | 284111 | 1946 | | | | ORPHA | 0 | | 685 | 23089 | 608305 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | SLC29A3 CL E G H | 55315 | 168569 | | | | ORPHA | 0 | | 447 | 23096 | 612373 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | SLX4 CL E G H | 84464 | 84 | | | | ORPHA | 0 | | 1968 | 23845 | 613278 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | SMOC1 CL E G H | 64093 | 1106 | | | | ORPHA | 0 | | 122 | 20318 | 608488 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | SOX2 CL E G H | 6657 | 77298 | | | | ORPHA | 0 | | 211 | 11195 | 184429 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | SUFU CL E G H | 51684 | 377 | | | | ORPHA | 0 | | 1306 | 16466 | 607035 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | TBX1 CL E G H | 6899 | 567 | | | | ORPHA | 0 | | 1169 | 11592 | 602054 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | TCTN1 CL E G H | 79600 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 393 | 26113 | 609863 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | TCTN2 CL E G H | 79867 | 564 | | | | ORPHA | 0 | | 622 | 25774 | 613846 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | TCTN2 CL E G H | 79867 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 622 | 25774 | 613846 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | TGFBR1 CL E G H | 7046 | 609192 | Loeys-Dietz syndrome 1 | 609192 | C2697933 | OMIM | 0 | | 884 | 11772 | 190181 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | TGFBR2 CL E G H | 7048 | 610168 | Loeys-Dietz syndrome 2 | 610168 | C2674876 | OMIM | 0 | | 948 | 11773 | 190182 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | TMEM107 CL E G H | 84314 | 564 | | | | ORPHA | 0 | | 299 | 28128 | 616183 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | TMEM138 CL E G H | 51524 | 2318 | | | | ORPHA | 0 | | 166 | 26944 | 614459 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | TMEM216 CL E G H | 51259 | 2318 | | | | ORPHA | 0 | | 236 | 25018 | 613277 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | TMEM216 CL E G H | 51259 | 564 | | | | ORPHA | 0 | | 236 | 25018 | 613277 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | TMEM231 CL E G H | 79583 | 2318 | | | | ORPHA | 0 | | 463 | 37234 | 614949 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | TMEM231 CL E G H | 79583 | 564 | | | | ORPHA | 0 | | 463 | 37234 | 614949 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | TMEM237 CL E G H | 65062 | 220497 | | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | TMEM237 CL E G H | 65062 | 2318 | | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | TMEM237 CL E G H | 65062 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | TMEM67 CL E G H | 91147 | 564 | | | | ORPHA | 0 | | 928 | 28396 | 609884 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | TMEM67 CL E G H | 91147 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 928 | 28396 | 609884 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | TMEM67 CL E G H | 91147 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 0 | | 928 | 28396 | 609884 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | TMEM67 CL E G H | 91147 | 607361 | Meckel syndrome type 3 | 607361 | C1846357 | OMIM | 0 | | 928 | 28396 | 609884 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | TREM2 CL E G H | 54209 | 2770 | | | | ORPHA | 0 | | 154 | 17761 | 605086 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | TRPV4 CL E G H | 59341 | 2635 | | | | ORPHA | 0 | | 1018 | 18083 | 605427 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | TSC1 CL E G H | 7248 | 538 | | | | ORPHA | 0 | | 4172 | 12362 | 605284 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | TSC2 CL E G H | 7249 | 538 | | | | ORPHA | 0 | | 9638 | 12363 | 191092 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | TYROBP CL E G H | 7305 | 2770 | | | | ORPHA | 0 | | 110 | 12449 | 604142 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | UBE2T CL E G H | 29089 | 84 | | | | ORPHA | 0 | | 45 | 25009 | 610538 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | UFD1 CL E G H | 7353 | 567 | | | | ORPHA | 0 | | 415 | 12520 | 601754 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | VAC14 CL E G H | 55697 | 3472 | Meningococcemia | | | ORPHA | 0 | | 367 | 25507 | 604632 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | WDPCP CL E G H | 51057 | 564 | | | | ORPHA | 0 | | 587 | 28027 | 613580 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | WHCR CL E G H | 7467 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 0 | | | 12764 | 0 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | XRCC2 CL E G H | 7516 | 84 | | | | ORPHA | 0 | | 697 | 12829 | 600375 |
HP:0000238 | HP:0000238 | Hydrocephalus | 0 | ZNF423 CL E G H | 23090 | 2318 | | | | ORPHA | 0 | | 810 | 16762 | 604557 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 0 | | 1194 | 21575 | 608894 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 0 | | 1194 | 21575 | 608894 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 0 | | 1194 | 21575 | 608894 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 0 | | 1194 | 21575 | 608894 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1194 | 21575 | 608894 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1194 | 21575 | 608894 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1194 | 21575 | 608894 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1194 | 21575 | 608894 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | ALG13 CL E G H | 79868 | 300884 | Epileptic encephalopathy, early infantile, 36 | 300884 | C3550904 | OMIM | 0 | | 950 | 30881 | 300776 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | ALG13 CL E G H | 79868 | 300884 | Epileptic encephalopathy, early infantile, 36 | 300884 | C3550904 | OMIM | 0 | | 950 | 30881 | 300776 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | ALG13 CL E G H | 79868 | 300884 | Epileptic encephalopathy, early infantile, 36 | 300884 | C3550904 | OMIM | 0 | | 950 | 30881 | 300776 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | ALG13 CL E G H | 79868 | 300884 | Epileptic encephalopathy, early infantile, 36 | 300884 | C3550904 | OMIM | 0 | | 950 | 30881 | 300776 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 0 | | 241 | 560 | 300629 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 0 | | 241 | 560 | 300629 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 0 | | 241 | 560 | 300629 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 0 | | 241 | 560 | 300629 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | ARL13B CL E G H | 200894 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 340 | 25419 | 608922 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | ARL13B CL E G H | 200894 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 340 | 25419 | 608922 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | ARL13B CL E G H | 200894 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 340 | 25419 | 608922 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | ARL13B CL E G H | 200894 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 340 | 25419 | 608922 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | ARL3 CL E G H | 403 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 137 | 694 | 604695 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | ARL3 CL E G H | 403 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 137 | 694 | 604695 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | ARL3 CL E G H | 403 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 137 | 694 | 604695 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | ARL3 CL E G H | 403 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 137 | 694 | 604695 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | ARMC9 CL E G H | 80210 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 631 | 20730 | 617612 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | ARMC9 CL E G H | 80210 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 631 | 20730 | 617612 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | ARMC9 CL E G H | 80210 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 631 | 20730 | 617612 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | ARMC9 CL E G H | 80210 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 631 | 20730 | 617612 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | ARVCF CL E G H | 421 | 567 | | | | ORPHA | 0 | | 620 | 728 | 602269 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | ARVCF CL E G H | 421 | 567 | | | | ORPHA | 0 | | 620 | 728 | 602269 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | ARVCF CL E G H | 421 | 567 | | | | ORPHA | 0 | | 620 | 728 | 602269 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | ARVCF CL E G H | 421 | 567 | | | | ORPHA | 0 | | 620 | 728 | 602269 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | B9D1 CL E G H | 27077 | 564 | | | | ORPHA | 0 | | 310 | 24123 | 614144 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | B9D1 CL E G H | 27077 | 564 | | | | ORPHA | 0 | | 310 | 24123 | 614144 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | B9D1 CL E G H | 27077 | 564 | | | | ORPHA | 0 | | 310 | 24123 | 614144 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | B9D1 CL E G H | 27077 | 564 | | | | ORPHA | 0 | | 310 | 24123 | 614144 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | B9D1 CL E G H | 27077 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 310 | 24123 | 614144 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | B9D1 CL E G H | 27077 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 310 | 24123 | 614144 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | B9D1 CL E G H | 27077 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 310 | 24123 | 614144 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | B9D1 CL E G H | 27077 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 310 | 24123 | 614144 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | B9D2 CL E G H | 80776 | 564 | | | | ORPHA | 0 | | 73 | 28636 | 611951 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | B9D2 CL E G H | 80776 | 564 | | | | ORPHA | 0 | | 73 | 28636 | 611951 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | B9D2 CL E G H | 80776 | 564 | | | | ORPHA | 0 | | 73 | 28636 | 611951 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | B9D2 CL E G H | 80776 | 564 | | | | ORPHA | 0 | | 73 | 28636 | 611951 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | BRAF CL E G H | 673 | 54595 | | | | ORPHA | 0 | | 1182 | 1097 | 164757 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | BRAF CL E G H | 673 | 54595 | | | | ORPHA | 0 | | 1182 | 1097 | 164757 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | BRAF CL E G H | 673 | 54595 | | | | ORPHA | 0 | | 1182 | 1097 | 164757 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | BRAF CL E G H | 673 | 54595 | | | | ORPHA | 0 | | 1182 | 1097 | 164757 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | BRAF CL E G H | 673 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 1182 | 1097 | 164757 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | BRAF CL E G H | 673 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 1182 | 1097 | 164757 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | BRAF CL E G H | 673 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 1182 | 1097 | 164757 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | BRAF CL E G H | 673 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 1182 | 1097 | 164757 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | BRCA1 CL E G H | 672 | 84 | | | | ORPHA | 0 | | 13955 | 1100 | 113705 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | BRCA1 CL E G H | 672 | 84 | | | | ORPHA | 0 | | 13955 | 1100 | 113705 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | BRCA1 CL E G H | 672 | 84 | | | | ORPHA | 0 | | 13955 | 1100 | 113705 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | BRCA1 CL E G H | 672 | 84 | | | | ORPHA | 0 | | 13955 | 1100 | 113705 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | BRCA2 CL E G H | 675 | 84 | | | | ORPHA | 0 | | 17543 | 1101 | 600185 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | BRCA2 CL E G H | 675 | 84 | | | | ORPHA | 0 | | 17543 | 1101 | 600185 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | BRCA2 CL E G H | 675 | 84 | | | | ORPHA | 0 | | 17543 | 1101 | 600185 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | BRCA2 CL E G H | 675 | 84 | | | | ORPHA | 0 | | 17543 | 1101 | 600185 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | BRIP1 CL E G H | 83990 | 84 | | | | ORPHA | 0 | | 5110 | 20473 | 605882 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | BRIP1 CL E G H | 83990 | 84 | | | | ORPHA | 0 | | 5110 | 20473 | 605882 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | BRIP1 CL E G H | 83990 | 84 | | | | ORPHA | 0 | | 5110 | 20473 | 605882 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | BRIP1 CL E G H | 83990 | 84 | | | | ORPHA | 0 | | 5110 | 20473 | 605882 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | CC2D2A CL E G H | 57545 | 2318 | | | | ORPHA | 0 | | 1525 | 29253 | 612013 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | CC2D2A CL E G H | 57545 | 564 | | | | ORPHA | 0 | | 1525 | 29253 | 612013 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | CC2D2A CL E G H | 57545 | 2318 | | | | ORPHA | 0 | | 1525 | 29253 | 612013 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | CC2D2A CL E G H | 57545 | 564 | | | | ORPHA | 0 | | 1525 | 29253 | 612013 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | CC2D2A CL E G H | 57545 | 2318 | | | | ORPHA | 0 | | 1525 | 29253 | 612013 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | CC2D2A CL E G H | 57545 | 564 | | | | ORPHA | 0 | | 1525 | 29253 | 612013 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | CC2D2A CL E G H | 57545 | 2318 | | | | ORPHA | 0 | | 1525 | 29253 | 612013 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | CC2D2A CL E G H | 57545 | 564 | | | | ORPHA | 0 | | 1525 | 29253 | 612013 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | CC2D2A CL E G H | 57545 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 0 | | 1525 | 29253 | 612013 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | CC2D2A CL E G H | 57545 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 0 | | 1525 | 29253 | 612013 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | CC2D2A CL E G H | 57545 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 0 | | 1525 | 29253 | 612013 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | CC2D2A CL E G H | 57545 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 0 | | 1525 | 29253 | 612013 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | CC2D2A CL E G H | 57545 | 612284 | Meckel syndrome type 6 | 612284 | C2676790 | OMIM | 0 | | 1525 | 29253 | 612013 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | CC2D2A CL E G H | 57545 | 612284 | Meckel syndrome type 6 | 612284 | C2676790 | OMIM | 0 | | 1525 | 29253 | 612013 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | CC2D2A CL E G H | 57545 | 612284 | Meckel syndrome type 6 | 612284 | C2676790 | OMIM | 0 | | 1525 | 29253 | 612013 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | CC2D2A CL E G H | 57545 | 612284 | Meckel syndrome type 6 | 612284 | C2676790 | OMIM | 0 | | 1525 | 29253 | 612013 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | CEP104 CL E G H | 9731 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 506 | 24866 | 616690 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | CEP104 CL E G H | 9731 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 506 | 24866 | 616690 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | CEP104 CL E G H | 9731 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 506 | 24866 | 616690 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | CEP104 CL E G H | 9731 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 506 | 24866 | 616690 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | CEP120 CL E G H | 153241 | 220493 | | | | ORPHA | 0 | | 433 | 26690 | 613446 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | CEP120 CL E G H | 153241 | 220493 | | | | ORPHA | 0 | | 433 | 26690 | 613446 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | CEP120 CL E G H | 153241 | 220493 | | | | ORPHA | 0 | | 433 | 26690 | 613446 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | CEP120 CL E G H | 153241 | 220493 | | | | ORPHA | 0 | | 433 | 26690 | 613446 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | CEP120 CL E G H | 153241 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 433 | 26690 | 613446 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | CEP120 CL E G H | 153241 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 433 | 26690 | 613446 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | CEP120 CL E G H | 153241 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 433 | 26690 | 613446 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | CEP120 CL E G H | 153241 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 433 | 26690 | 613446 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | CEP290 CL E G H | 80184 | 2318 | | | | ORPHA | 0 | | 2944 | 29021 | 610142 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | CEP290 CL E G H | 80184 | 564 | | | | ORPHA | 0 | | 2944 | 29021 | 610142 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | CEP290 CL E G H | 80184 | 2318 | | | | ORPHA | 0 | | 2944 | 29021 | 610142 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | CEP290 CL E G H | 80184 | 564 | | | | ORPHA | 0 | | 2944 | 29021 | 610142 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | CEP290 CL E G H | 80184 | 2318 | | | | ORPHA | 0 | | 2944 | 29021 | 610142 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | CEP290 CL E G H | 80184 | 564 | | | | ORPHA | 0 | | 2944 | 29021 | 610142 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | CEP290 CL E G H | 80184 | 2318 | | | | ORPHA | 0 | | 2944 | 29021 | 610142 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | CEP290 CL E G H | 80184 | 564 | | | | ORPHA | 0 | | 2944 | 29021 | 610142 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | CEP290 CL E G H | 80184 | 611134 | Meckel syndrome type 4 | 611134 | C1970161 | OMIM | 0 | | 2944 | 29021 | 610142 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | CEP290 CL E G H | 80184 | 611134 | Meckel syndrome type 4 | 611134 | C1970161 | OMIM | 0 | | 2944 | 29021 | 610142 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | CEP290 CL E G H | 80184 | 611134 | Meckel syndrome type 4 | 611134 | C1970161 | OMIM | 0 | | 2944 | 29021 | 610142 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | CEP290 CL E G H | 80184 | 611134 | Meckel syndrome type 4 | 611134 | C1970161 | OMIM | 0 | | 2944 | 29021 | 610142 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | CEP41 CL E G H | 95681 | 220493 | | | | ORPHA | 0 | | 435 | 12370 | 610523 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | CEP41 CL E G H | 95681 | 220493 | | | | ORPHA | 0 | | 435 | 12370 | 610523 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | CEP41 CL E G H | 95681 | 220493 | | | | ORPHA | 0 | | 435 | 12370 | 610523 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | CEP41 CL E G H | 95681 | 220493 | | | | ORPHA | 0 | | 435 | 12370 | 610523 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | CEP41 CL E G H | 95681 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 435 | 12370 | 610523 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | CEP41 CL E G H | 95681 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 435 | 12370 | 610523 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | CEP41 CL E G H | 95681 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 435 | 12370 | 610523 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | CEP41 CL E G H | 95681 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 435 | 12370 | 610523 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | CEP55 CL E G H | 55165 | 564 | | | | ORPHA | 0 | | 89 | 1161 | 610000 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | CEP55 CL E G H | 55165 | 564 | | | | ORPHA | 0 | | 89 | 1161 | 610000 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | CEP55 CL E G H | 55165 | 564 | | | | ORPHA | 0 | | 89 | 1161 | 610000 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | CEP55 CL E G H | 55165 | 564 | | | | ORPHA | 0 | | 89 | 1161 | 610000 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | CEP83 CL E G H | 51134 | 615862 | Nephronophthisis 18 | 615862 | C3890591 | OMIM | 0 | | 475 | 17966 | 615847 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | CEP83 CL E G H | 51134 | 615862 | Nephronophthisis 18 | 615862 | C3890591 | OMIM | 0 | | 475 | 17966 | 615847 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | CEP83 CL E G H | 51134 | 615862 | Nephronophthisis 18 | 615862 | C3890591 | OMIM | 0 | | 475 | 17966 | 615847 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | CEP83 CL E G H | 51134 | 615862 | Nephronophthisis 18 | 615862 | C3890591 | OMIM | 0 | | 475 | 17966 | 615847 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | CLCN7 CL E G H | 1186 | 53 | | | | ORPHA | 0 | | 1009 | 2025 | 602727 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | CLCN7 CL E G H | 1186 | 53 | | | | ORPHA | 0 | | 1009 | 2025 | 602727 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | CLCN7 CL E G H | 1186 | 53 | | | | ORPHA | 0 | | 1009 | 2025 | 602727 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | CLCN7 CL E G H | 1186 | 53 | | | | ORPHA | 0 | | 1009 | 2025 | 602727 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | CLIC2 CL E G H | 1193 | 300886 | Mental retardation, X-linked, syndromic 32 | 300886 | C3550913 | OMIM | 0 | | 270 | 2063 | 300138 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | CLIC2 CL E G H | 1193 | 300886 | Mental retardation, X-linked, syndromic 32 | 300886 | C3550913 | OMIM | 0 | | 270 | 2063 | 300138 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | CLIC2 CL E G H | 1193 | 300886 | Mental retardation, X-linked, syndromic 32 | 300886 | C3550913 | OMIM | 0 | | 270 | 2063 | 300138 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | CLIC2 CL E G H | 1193 | 300886 | Mental retardation, X-linked, syndromic 32 | 300886 | C3550913 | OMIM | 0 | | 270 | 2063 | 300138 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | COMT CL E G H | 1312 | 567 | | | | ORPHA | 0 | | 610 | 2228 | 116790 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | COMT CL E G H | 1312 | 567 | | | | ORPHA | 0 | | 610 | 2228 | 116790 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | COMT CL E G H | 1312 | 567 | | | | ORPHA | 0 | | 610 | 2228 | 116790 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | COMT CL E G H | 1312 | 567 | | | | ORPHA | 0 | | 610 | 2228 | 116790 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | COX7B CL E G H | 1349 | 2556 | | | | ORPHA | 0 | | 181 | 2291 | 300885 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | COX7B CL E G H | 1349 | 2556 | | | | ORPHA | 0 | | 181 | 2291 | 300885 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | COX7B CL E G H | 1349 | 2556 | | | | ORPHA | 0 | | 181 | 2291 | 300885 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | COX7B CL E G H | 1349 | 2556 | | | | ORPHA | 0 | | 181 | 2291 | 300885 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | CPLANE1 CL E G H | 65250 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1989 | 25801 | 614571 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | CPLANE1 CL E G H | 65250 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1989 | 25801 | 614571 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | CPLANE1 CL E G H | 65250 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1989 | 25801 | 614571 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | CPLANE1 CL E G H | 65250 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1989 | 25801 | 614571 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | CPLX1 CL E G H | 10815 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 0 | | 206 | 2309 | 605032 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | CPLX1 CL E G H | 10815 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 0 | | 206 | 2309 | 605032 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | CPLX1 CL E G H | 10815 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 0 | | 206 | 2309 | 605032 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | CPLX1 CL E G H | 10815 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 0 | | 206 | 2309 | 605032 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | CSPP1 CL E G H | 79848 | 564 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | CSPP1 CL E G H | 79848 | 564 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | CSPP1 CL E G H | 79848 | 564 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | CSPP1 CL E G H | 79848 | 564 | | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | CSPP1 CL E G H | 79848 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | CSPP1 CL E G H | 79848 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | CSPP1 CL E G H | 79848 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | CSPP1 CL E G H | 79848 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | CTBP1 CL E G H | 1487 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 0 | | 352 | 2494 | 602618 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | CTBP1 CL E G H | 1487 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 0 | | 352 | 2494 | 602618 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | CTBP1 CL E G H | 1487 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 0 | | 352 | 2494 | 602618 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | CTBP1 CL E G H | 1487 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 0 | | 352 | 2494 | 602618 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | CTNNB1 CL E G H | 1499 | 54595 | | | | ORPHA | 0 | | 624 | 2514 | 116806 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | CTNNB1 CL E G H | 1499 | 54595 | | | | ORPHA | 0 | | 624 | 2514 | 116806 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | CTNNB1 CL E G H | 1499 | 54595 | | | | ORPHA | 0 | | 624 | 2514 | 116806 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | CTNNB1 CL E G H | 1499 | 54595 | | | | ORPHA | 0 | | 624 | 2514 | 116806 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | CTSK CL E G H | 1513 | 763 | | | | ORPHA | 0 | | 302 | 2536 | 601105 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | CTSK CL E G H | 1513 | 763 | | | | ORPHA | 0 | | 302 | 2536 | 601105 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | CTSK CL E G H | 1513 | 763 | | | | ORPHA | 0 | | 302 | 2536 | 601105 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | CTSK CL E G H | 1513 | 763 | | | | ORPHA | 0 | | 302 | 2536 | 601105 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 0 | | 463 | 19344 | 617278 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 0 | | 463 | 19344 | 617278 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 0 | | 463 | 19344 | 617278 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 0 | | 463 | 19344 | 617278 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | DHCR24 CL E G H | 1718 | 35107 | | | | ORPHA | 0 | | 291 | 2859 | 606418 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | DHCR24 CL E G H | 1718 | 35107 | | | | ORPHA | 0 | | 291 | 2859 | 606418 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | DHCR24 CL E G H | 1718 | 35107 | | | | ORPHA | 0 | | 291 | 2859 | 606418 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | DHCR24 CL E G H | 1718 | 35107 | | | | ORPHA | 0 | | 291 | 2859 | 606418 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 0 | | 273 | 2933 | 605377 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 0 | | 273 | 2933 | 605377 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 0 | | 273 | 2933 | 605377 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 0 | | 273 | 2933 | 605377 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | ERCC4 CL E G H | 2072 | 84 | | | | ORPHA | 0 | | 726 | 3436 | 133520 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | ERCC4 CL E G H | 2072 | 84 | | | | ORPHA | 0 | | 726 | 3436 | 133520 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | ERCC4 CL E G H | 2072 | 84 | | | | ORPHA | 0 | | 726 | 3436 | 133520 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | ERCC4 CL E G H | 2072 | 84 | | | | ORPHA | 0 | | 726 | 3436 | 133520 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | ERF CL E G H | 2077 | 3267 | | | | ORPHA | 0 | | 178 | 3444 | 611888 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | ERF CL E G H | 2077 | 3267 | | | | ORPHA | 0 | | 178 | 3444 | 611888 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | ERF CL E G H | 2077 | 3267 | | | | ORPHA | 0 | | 178 | 3444 | 611888 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | ERF CL E G H | 2077 | 3267 | | | | ORPHA | 0 | | 178 | 3444 | 611888 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | ERF CL E G H | 2077 | 207 | Echinococcosis | | | ORPHA | 0 | | 178 | 3444 | 611888 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | ERF CL E G H | 2077 | 207 | Echinococcosis | | | ORPHA | 0 | | 178 | 3444 | 611888 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | ERF CL E G H | 2077 | 207 | Echinococcosis | | | ORPHA | 0 | | 178 | 3444 | 611888 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | ERF CL E G H | 2077 | 207 | Echinococcosis | | | ORPHA | 0 | | 178 | 3444 | 611888 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FAM20C CL E G H | 56975 | 259775 | Raine syndrome | 259775 | C1850106 | OMIM | 0 | | 462 | 22140 | 611061 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FAM20C CL E G H | 56975 | 259775 | Raine syndrome | 259775 | C1850106 | OMIM | 0 | | 462 | 22140 | 611061 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FAM20C CL E G H | 56975 | 259775 | Raine syndrome | 259775 | C1850106 | OMIM | 0 | | 462 | 22140 | 611061 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FAM20C CL E G H | 56975 | 259775 | Raine syndrome | 259775 | C1850106 | OMIM | 0 | | 462 | 22140 | 611061 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FANCA CL E G H | 2175 | 84 | | | | ORPHA | 0 | | 4396 | 3582 | 607139 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FANCA CL E G H | 2175 | 84 | | | | ORPHA | 0 | | 4396 | 3582 | 607139 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FANCA CL E G H | 2175 | 84 | | | | ORPHA | 0 | | 4396 | 3582 | 607139 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FANCA CL E G H | 2175 | 84 | | | | ORPHA | 0 | | 4396 | 3582 | 607139 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FANCB CL E G H | 2187 | 84 | | | | ORPHA | 0 | | 633 | 3583 | 300515 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FANCB CL E G H | 2187 | 84 | | | | ORPHA | 0 | | 633 | 3583 | 300515 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FANCB CL E G H | 2187 | 84 | | | | ORPHA | 0 | | 633 | 3583 | 300515 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FANCB CL E G H | 2187 | 84 | | | | ORPHA | 0 | | 633 | 3583 | 300515 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FANCC CL E G H | 2176 | 84 | | | | ORPHA | 0 | | 1743 | 3584 | 613899 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FANCC CL E G H | 2176 | 84 | | | | ORPHA | 0 | | 1743 | 3584 | 613899 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FANCC CL E G H | 2176 | 84 | | | | ORPHA | 0 | | 1743 | 3584 | 613899 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FANCC CL E G H | 2176 | 84 | | | | ORPHA | 0 | | 1743 | 3584 | 613899 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FANCD2 CL E G H | 2177 | 84 | | | | ORPHA | 0 | | 1262 | 3585 | 613984 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FANCD2 CL E G H | 2177 | 84 | | | | ORPHA | 0 | | 1262 | 3585 | 613984 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FANCD2 CL E G H | 2177 | 84 | | | | ORPHA | 0 | | 1262 | 3585 | 613984 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FANCD2 CL E G H | 2177 | 84 | | | | ORPHA | 0 | | 1262 | 3585 | 613984 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FANCE CL E G H | 2178 | 84 | | | | ORPHA | 0 | | 527 | 3586 | 613976 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FANCE CL E G H | 2178 | 84 | | | | ORPHA | 0 | | 527 | 3586 | 613976 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FANCE CL E G H | 2178 | 84 | | | | ORPHA | 0 | | 527 | 3586 | 613976 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FANCE CL E G H | 2178 | 84 | | | | ORPHA | 0 | | 527 | 3586 | 613976 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FANCF CL E G H | 2188 | 84 | | | | ORPHA | 0 | | 434 | 3587 | 613897 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FANCF CL E G H | 2188 | 84 | | | | ORPHA | 0 | | 434 | 3587 | 613897 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FANCF CL E G H | 2188 | 84 | | | | ORPHA | 0 | | 434 | 3587 | 613897 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FANCF CL E G H | 2188 | 84 | | | | ORPHA | 0 | | 434 | 3587 | 613897 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FANCG CL E G H | 2189 | 84 | | | | ORPHA | 0 | | 790 | 3588 | 602956 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FANCG CL E G H | 2189 | 84 | | | | ORPHA | 0 | | 790 | 3588 | 602956 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FANCG CL E G H | 2189 | 84 | | | | ORPHA | 0 | | 790 | 3588 | 602956 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FANCG CL E G H | 2189 | 84 | | | | ORPHA | 0 | | 790 | 3588 | 602956 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FANCI CL E G H | 55215 | 84 | | | | ORPHA | 0 | | 1506 | 25568 | 611360 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FANCI CL E G H | 55215 | 84 | | | | ORPHA | 0 | | 1506 | 25568 | 611360 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FANCI CL E G H | 55215 | 84 | | | | ORPHA | 0 | | 1506 | 25568 | 611360 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FANCI CL E G H | 55215 | 84 | | | | ORPHA | 0 | | 1506 | 25568 | 611360 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FANCL CL E G H | 55120 | 84 | | | | ORPHA | 0 | | 542 | 20748 | 608111 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FANCL CL E G H | 55120 | 84 | | | | ORPHA | 0 | | 542 | 20748 | 608111 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FANCL CL E G H | 55120 | 84 | | | | ORPHA | 0 | | 542 | 20748 | 608111 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FANCL CL E G H | 55120 | 84 | | | | ORPHA | 0 | | 542 | 20748 | 608111 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FANCL CL E G H | 55120 | 614083 | Fanconi anemia, complementation group L | 614083 | C3469528 | OMIM | 0 | | 542 | 20748 | 608111 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FANCL CL E G H | 55120 | 614083 | Fanconi anemia, complementation group L | 614083 | C3469528 | OMIM | 0 | | 542 | 20748 | 608111 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FANCL CL E G H | 55120 | 614083 | Fanconi anemia, complementation group L | 614083 | C3469528 | OMIM | 0 | | 542 | 20748 | 608111 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FANCL CL E G H | 55120 | 614083 | Fanconi anemia, complementation group L | 614083 | C3469528 | OMIM | 0 | | 542 | 20748 | 608111 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FANCM CL E G H | 57697 | 84 | | | | ORPHA | 0 | | 2045 | 23168 | 609644 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FANCM CL E G H | 57697 | 84 | | | | ORPHA | 0 | | 2045 | 23168 | 609644 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FANCM CL E G H | 57697 | 84 | | | | ORPHA | 0 | | 2045 | 23168 | 609644 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FANCM CL E G H | 57697 | 84 | | | | ORPHA | 0 | | 2045 | 23168 | 609644 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FGFR2 CL E G H | 2263 | 1555 | | | | ORPHA | 0 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FGFR2 CL E G H | 2263 | 87 | | | | ORPHA | 0 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FGFR2 CL E G H | 2263 | 1555 | | | | ORPHA | 0 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FGFR2 CL E G H | 2263 | 87 | | | | ORPHA | 0 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FGFR2 CL E G H | 2263 | 1555 | | | | ORPHA | 0 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FGFR2 CL E G H | 2263 | 87 | | | | ORPHA | 0 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FGFR2 CL E G H | 2263 | 1555 | | | | ORPHA | 0 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FGFR2 CL E G H | 2263 | 87 | | | | ORPHA | 0 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FGFR2 CL E G H | 2263 | 207 | Echinococcosis | | | ORPHA | 0 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FGFR2 CL E G H | 2263 | 207 | Echinococcosis | | | ORPHA | 0 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FGFR2 CL E G H | 2263 | 207 | Echinococcosis | | | ORPHA | 0 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FGFR2 CL E G H | 2263 | 207 | Echinococcosis | | | ORPHA | 0 | | 685 | 3689 | 176943 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FGFR3 CL E G H | 2261 | 93274 | | | | ORPHA | 0 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FGFR3 CL E G H | 2261 | 53271 | | | | ORPHA | 0 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FGFR3 CL E G H | 2261 | 1860 | | | | ORPHA | 0 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FGFR3 CL E G H | 2261 | 93274 | | | | ORPHA | 0 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FGFR3 CL E G H | 2261 | 53271 | | | | ORPHA | 0 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FGFR3 CL E G H | 2261 | 1860 | | | | ORPHA | 0 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FGFR3 CL E G H | 2261 | 93274 | | | | ORPHA | 0 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FGFR3 CL E G H | 2261 | 53271 | | | | ORPHA | 0 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FGFR3 CL E G H | 2261 | 1860 | | | | ORPHA | 0 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FGFR3 CL E G H | 2261 | 93274 | | | | ORPHA | 0 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FGFR3 CL E G H | 2261 | 1860 | | | | ORPHA | 0 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FGFR3 CL E G H | 2261 | 53271 | | | | ORPHA | 0 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FGFR3 CL E G H | 2261 | 100800 | Achondroplasia | 100800 | C0001080 | OMIM | 0 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FGFR3 CL E G H | 2261 | 100800 | Achondroplasia | 100800 | C0001080 | OMIM | 0 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FGFR3 CL E G H | 2261 | 100800 | Achondroplasia | 100800 | C0001080 | OMIM | 0 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FGFR3 CL E G H | 2261 | 100800 | Achondroplasia | 100800 | C0001080 | OMIM | 0 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FGFR3 CL E G H | 2261 | 15 | Antisocial personality disorder | | | ORPHA | 0 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FGFR3 CL E G H | 2261 | 15 | Antisocial personality disorder | | | ORPHA | 0 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FGFR3 CL E G H | 2261 | 15 | Antisocial personality disorder | | | ORPHA | 0 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FGFR3 CL E G H | 2261 | 15 | Antisocial personality disorder | | | ORPHA | 0 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FGFR3 CL E G H | 2261 | 612247 | Crouzon syndrome with acanthosis nigricans | 612247 | C2677099 | OMIM | 0 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FGFR3 CL E G H | 2261 | 612247 | Crouzon syndrome with acanthosis nigricans | 612247 | C2677099 | OMIM | 0 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FGFR3 CL E G H | 2261 | 612247 | Crouzon syndrome with acanthosis nigricans | 612247 | C2677099 | OMIM | 0 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FGFR3 CL E G H | 2261 | 612247 | Crouzon syndrome with acanthosis nigricans | 612247 | C2677099 | OMIM | 0 | | 916 | 3690 | 134934 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FGFRL1 CL E G H | 53834 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 0 | | 396 | 3693 | 605830 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FGFRL1 CL E G H | 53834 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 0 | | 396 | 3693 | 605830 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FGFRL1 CL E G H | 53834 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 0 | | 396 | 3693 | 605830 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FGFRL1 CL E G H | 53834 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 0 | | 396 | 3693 | 605830 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | FIG4 CL E G H | 9896 | 3472 | Meningococcemia | | | ORPHA | 0 | | 926 | 16873 | 609390 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | FIG4 CL E G H | 9896 | 3472 | Meningococcemia | | | ORPHA | 0 | | 926 | 16873 | 609390 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | FIG4 CL E G H | 9896 | 3472 | Meningococcemia | | | ORPHA | 0 | | 926 | 16873 | 609390 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | FIG4 CL E G H | 9896 | 3472 | Meningococcemia | | | ORPHA | 0 | | 926 | 16873 | 609390 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | GLI3 CL E G H | 2737 | 380 | | | | ORPHA | 0 | | 981 | 4319 | 165240 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | GLI3 CL E G H | 2737 | 380 | | | | ORPHA | 0 | | 981 | 4319 | 165240 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | GLI3 CL E G H | 2737 | 380 | | | | ORPHA | 0 | | 981 | 4319 | 165240 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | GLI3 CL E G H | 2737 | 380 | | | | ORPHA | 0 | | 981 | 4319 | 165240 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | GLI3 CL E G H | 2737 | 175700 | Greig cephalopolysyndactyly syndrome | 175700 | C0265306 | OMIM | 0 | | 981 | 4319 | 165240 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | GLI3 CL E G H | 2737 | 175700 | Greig cephalopolysyndactyly syndrome | 175700 | C0265306 | OMIM | 0 | | 981 | 4319 | 165240 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | GLI3 CL E G H | 2737 | 175700 | Greig cephalopolysyndactyly syndrome | 175700 | C0265306 | OMIM | 0 | | 981 | 4319 | 165240 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | GLI3 CL E G H | 2737 | 175700 | Greig cephalopolysyndactyly syndrome | 175700 | C0265306 | OMIM | 0 | | 981 | 4319 | 165240 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 91 | 4390 | 600998 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 91 | 4390 | 600998 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 91 | 4390 | 600998 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 91 | 4390 | 600998 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | GP1BB CL E G H | 2812 | 567 | | | | ORPHA | 0 | | 479 | 4440 | 138720 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | GP1BB CL E G H | 2812 | 567 | | | | ORPHA | 0 | | 479 | 4440 | 138720 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | GP1BB CL E G H | 2812 | 567 | | | | ORPHA | 0 | | 479 | 4440 | 138720 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | GP1BB CL E G H | 2812 | 567 | | | | ORPHA | 0 | | 479 | 4440 | 138720 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | HCCS CL E G H | 3052 | 2556 | | | | ORPHA | 0 | | 234 | 4837 | 300056 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | HCCS CL E G H | 3052 | 2556 | | | | ORPHA | 0 | | 234 | 4837 | 300056 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | HCCS CL E G H | 3052 | 2556 | | | | ORPHA | 0 | | 234 | 4837 | 300056 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | HCCS CL E G H | 3052 | 2556 | | | | ORPHA | 0 | | 234 | 4837 | 300056 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | HERC1 CL E G H | 8925 | 617011 | Macrocephaly, dysmorphic facies, and psychomotor retardation | 617011 | C4310766 | OMIM | 0 | | 1115 | 4867 | 605109 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | HERC1 CL E G H | 8925 | 617011 | Macrocephaly, dysmorphic facies, and psychomotor retardation | 617011 | C4310766 | OMIM | 0 | | 1115 | 4867 | 605109 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | HERC1 CL E G H | 8925 | 617011 | Macrocephaly, dysmorphic facies, and psychomotor retardation | 617011 | C4310766 | OMIM | 0 | | 1115 | 4867 | 605109 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | HERC1 CL E G H | 8925 | 617011 | Macrocephaly, dysmorphic facies, and psychomotor retardation | 617011 | C4310766 | OMIM | 0 | | 1115 | 4867 | 605109 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | HIRA CL E G H | 7290 | 567 | | | | ORPHA | 0 | | 476 | 4916 | 600237 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | HIRA CL E G H | 7290 | 567 | | | | ORPHA | 0 | | 476 | 4916 | 600237 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | HIRA CL E G H | 7290 | 567 | | | | ORPHA | 0 | | 476 | 4916 | 600237 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | HIRA CL E G H | 7290 | 567 | | | | ORPHA | 0 | | 476 | 4916 | 600237 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | HNRNPU CL E G H | 3192 | 238769 | | | | ORPHA | 0 | | 882 | 5048 | 602869 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | HNRNPU CL E G H | 3192 | 238769 | | | | ORPHA | 0 | | 882 | 5048 | 602869 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | HNRNPU CL E G H | 3192 | 238769 | | | | ORPHA | 0 | | 882 | 5048 | 602869 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | HNRNPU CL E G H | 3192 | 238769 | | | | ORPHA | 0 | | 882 | 5048 | 602869 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | HYLS1 CL E G H | 219844 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 314 | 26558 | 610693 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | HYLS1 CL E G H | 219844 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 314 | 26558 | 610693 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | HYLS1 CL E G H | 219844 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 314 | 26558 | 610693 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | HYLS1 CL E G H | 219844 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 314 | 26558 | 610693 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | IFT172 CL E G H | 26160 | 615630 | Short-rib thoracic dysplasia 10 with or without polydactyly | 615630 | C3810175 | OMIM | 0 | | 1356 | 30391 | 607386 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | IFT172 CL E G H | 26160 | 615630 | Short-rib thoracic dysplasia 10 with or without polydactyly | 615630 | C3810175 | OMIM | 0 | | 1356 | 30391 | 607386 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | IFT172 CL E G H | 26160 | 615630 | Short-rib thoracic dysplasia 10 with or without polydactyly | 615630 | C3810175 | OMIM | 0 | | 1356 | 30391 | 607386 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | IFT172 CL E G H | 26160 | 615630 | Short-rib thoracic dysplasia 10 with or without polydactyly | 615630 | C3810175 | OMIM | 0 | | 1356 | 30391 | 607386 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | INPP5E CL E G H | 56623 | 220493 | | | | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | INPP5E CL E G H | 56623 | 220493 | | | | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | INPP5E CL E G H | 56623 | 220493 | | | | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | INPP5E CL E G H | 56623 | 220493 | | | | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | INPP5E CL E G H | 56623 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | INPP5E CL E G H | 56623 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | INPP5E CL E G H | 56623 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | INPP5E CL E G H | 56623 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | INPP5E CL E G H | 56623 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | INPP5E CL E G H | 56623 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | INPP5E CL E G H | 56623 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | INPP5E CL E G H | 56623 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | JMJD1C CL E G H | 221037 | 567 | | | | ORPHA | 0 | | 1178 | 12313 | 604503 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | JMJD1C CL E G H | 221037 | 567 | | | | ORPHA | 0 | | 1178 | 12313 | 604503 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | JMJD1C CL E G H | 221037 | 567 | | | | ORPHA | 0 | | 1178 | 12313 | 604503 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | JMJD1C CL E G H | 221037 | 567 | | | | ORPHA | 0 | | 1178 | 12313 | 604503 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | KIAA0556 CL E G H | 23247 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | | 29068 | 616650 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | KIAA0556 CL E G H | 23247 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | | 29068 | 616650 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | KIAA0556 CL E G H | 23247 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | | 29068 | 616650 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | KIAA0556 CL E G H | 23247 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | | 29068 | 616650 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | KIAA0586 CL E G H | 9786 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | KIAA0586 CL E G H | 9786 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | KIAA0586 CL E G H | 9786 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | KIAA0586 CL E G H | 9786 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | KRAS CL E G H | 3845 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | KRAS CL E G H | 3845 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | KRAS CL E G H | 3845 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | KRAS CL E G H | 3845 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | LETM1 CL E G H | 3954 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 0 | | 367 | 6556 | 604407 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | LETM1 CL E G H | 3954 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 0 | | 367 | 6556 | 604407 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | LETM1 CL E G H | 3954 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 0 | | 367 | 6556 | 604407 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | LETM1 CL E G H | 3954 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 0 | | 367 | 6556 | 604407 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | LIG4 CL E G H | 3981 | 235 | | | | ORPHA | 0 | | 626 | 6601 | 601837 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | LIG4 CL E G H | 3981 | 235 | | | | ORPHA | 0 | | 626 | 6601 | 601837 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | LIG4 CL E G H | 3981 | 235 | | | | ORPHA | 0 | | 626 | 6601 | 601837 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | LIG4 CL E G H | 3981 | 235 | | | | ORPHA | 0 | | 626 | 6601 | 601837 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | LMBR1 CL E G H | 64327 | 2378 | | | | ORPHA | 0 | | 422 | 13243 | 605522 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | LMBR1 CL E G H | 64327 | 2378 | | | | ORPHA | 0 | | 422 | 13243 | 605522 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | LMBR1 CL E G H | 64327 | 2378 | | | | ORPHA | 0 | | 422 | 13243 | 605522 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | LMBR1 CL E G H | 64327 | 2378 | | | | ORPHA | 0 | | 422 | 13243 | 605522 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | MAD2L2 CL E G H | 10459 | 84 | | | | ORPHA | 0 | | 121 | 6764 | 604094 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | MAD2L2 CL E G H | 10459 | 84 | | | | ORPHA | 0 | | 121 | 6764 | 604094 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | MAD2L2 CL E G H | 10459 | 84 | | | | ORPHA | 0 | | 121 | 6764 | 604094 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | MAD2L2 CL E G H | 10459 | 84 | | | | ORPHA | 0 | | 121 | 6764 | 604094 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | MAP2K1 CL E G H | 5604 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 493 | 6840 | 176872 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | MAP2K1 CL E G H | 5604 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 493 | 6840 | 176872 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | MAP2K1 CL E G H | 5604 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 493 | 6840 | 176872 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | MAP2K1 CL E G H | 5604 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 493 | 6840 | 176872 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | MAP2K2 CL E G H | 5605 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 720 | 6842 | 601263 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | MAP2K2 CL E G H | 5605 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 720 | 6842 | 601263 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | MAP2K2 CL E G H | 5605 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 720 | 6842 | 601263 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | MAP2K2 CL E G H | 5605 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 0 | | 720 | 6842 | 601263 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | MC1R CL E G H | 4157 | 626 | | | | ORPHA | 0 | | 509 | 6929 | 155555 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | MC1R CL E G H | 4157 | 626 | | | | ORPHA | 0 | | 509 | 6929 | 155555 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | MC1R CL E G H | 4157 | 626 | | | | ORPHA | 0 | | 509 | 6929 | 155555 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | MC1R CL E G H | 4157 | 626 | | | | ORPHA | 0 | | 509 | 6929 | 155555 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | MFN2 CL E G H | 9927 | 99947 | | | | ORPHA | 0 | | 1222 | 16877 | 608507 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | MFN2 CL E G H | 9927 | 99947 | | | | ORPHA | 0 | | 1222 | 16877 | 608507 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | MFN2 CL E G H | 9927 | 99947 | | | | ORPHA | 0 | | 1222 | 16877 | 608507 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | MFN2 CL E G H | 9927 | 99947 | | | | ORPHA | 0 | | 1222 | 16877 | 608507 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | MKS1 CL E G H | 54903 | 220493 | | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | MKS1 CL E G H | 54903 | 564 | | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | MKS1 CL E G H | 54903 | 220493 | | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | MKS1 CL E G H | 54903 | 564 | | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | MKS1 CL E G H | 54903 | 220493 | | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | MKS1 CL E G H | 54903 | 564 | | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | MKS1 CL E G H | 54903 | 220493 | | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | MKS1 CL E G H | 54903 | 564 | | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | MKS1 CL E G H | 54903 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | MKS1 CL E G H | 54903 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | MKS1 CL E G H | 54903 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | MKS1 CL E G H | 54903 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | NDUFB11 CL E G H | 54539 | 2556 | | | | ORPHA | 0 | | 209 | 20372 | 300403 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | NDUFB11 CL E G H | 54539 | 2556 | | | | ORPHA | 0 | | 209 | 20372 | 300403 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | NDUFB11 CL E G H | 54539 | 2556 | | | | ORPHA | 0 | | 209 | 20372 | 300403 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | NDUFB11 CL E G H | 54539 | 2556 | | | | ORPHA | 0 | | 209 | 20372 | 300403 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | NOTCH2 CL E G H | 4853 | 955 | | | | ORPHA | 0 | | 1122 | 7882 | 600275 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | NOTCH2 CL E G H | 4853 | 955 | | | | ORPHA | 0 | | 1122 | 7882 | 600275 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | NOTCH2 CL E G H | 4853 | 955 | | | | ORPHA | 0 | | 1122 | 7882 | 600275 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | NOTCH2 CL E G H | 4853 | 955 | | | | ORPHA | 0 | | 1122 | 7882 | 600275 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | NPHP1 CL E G H | 4867 | 220497 | | | | ORPHA | 0 | | 815 | 7905 | 607100 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | NPHP1 CL E G H | 4867 | 220497 | | | | ORPHA | 0 | | 815 | 7905 | 607100 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | NPHP1 CL E G H | 4867 | 220497 | | | | ORPHA | 0 | | 815 | 7905 | 607100 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | NPHP1 CL E G H | 4867 | 220497 | | | | ORPHA | 0 | | 815 | 7905 | 607100 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | NRAS CL E G H | 4893 | 626 | | | | ORPHA | 0 | | 281 | 7989 | 164790 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | NRAS CL E G H | 4893 | 626 | | | | ORPHA | 0 | | 281 | 7989 | 164790 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | NRAS CL E G H | 4893 | 626 | | | | ORPHA | 0 | | 281 | 7989 | 164790 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | NRAS CL E G H | 4893 | 626 | | | | ORPHA | 0 | | 281 | 7989 | 164790 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 0 | | 281 | 7989 | 164790 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 0 | | 281 | 7989 | 164790 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 0 | | 281 | 7989 | 164790 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 0 | | 281 | 7989 | 164790 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | NSD2 CL E G H | 7468 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 0 | | 538 | 12766 | 602952 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | NSD2 CL E G H | 7468 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 0 | | 538 | 12766 | 602952 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | NSD2 CL E G H | 7468 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 0 | | 538 | 12766 | 602952 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | NSD2 CL E G H | 7468 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 0 | | 538 | 12766 | 602952 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | NSUN2 CL E G H | 54888 | 235 | | | | ORPHA | 0 | | 566 | 25994 | 610916 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | NSUN2 CL E G H | 54888 | 235 | | | | ORPHA | 0 | | 566 | 25994 | 610916 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | NSUN2 CL E G H | 54888 | 235 | | | | ORPHA | 0 | | 566 | 25994 | 610916 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | NSUN2 CL E G H | 54888 | 235 | | | | ORPHA | 0 | | 566 | 25994 | 610916 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | PALB2 CL E G H | 79728 | 84 | | | | ORPHA | 0 | | 5225 | 26144 | 610355 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | PALB2 CL E G H | 79728 | 84 | | | | ORPHA | 0 | | 5225 | 26144 | 610355 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | PALB2 CL E G H | 79728 | 84 | | | | ORPHA | 0 | | 5225 | 26144 | 610355 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | PALB2 CL E G H | 79728 | 84 | | | | ORPHA | 0 | | 5225 | 26144 | 610355 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | PIBF1 CL E G H | 10464 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 180 | 23352 | 607532 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | PIBF1 CL E G H | 10464 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 180 | 23352 | 607532 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | PIBF1 CL E G H | 10464 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 180 | 23352 | 607532 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | PIBF1 CL E G H | 10464 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 180 | 23352 | 607532 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | PIEZO2 CL E G H | 63895 | 2461 | | | | ORPHA | 0 | | 978 | 26270 | 613629 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | PIEZO2 CL E G H | 63895 | 2461 | | | | ORPHA | 0 | | 978 | 26270 | 613629 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | PIEZO2 CL E G H | 63895 | 2461 | | | | ORPHA | 0 | | 978 | 26270 | 613629 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | PIEZO2 CL E G H | 63895 | 2461 | | | | ORPHA | 0 | | 978 | 26270 | 613629 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | PIGV CL E G H | 55650 | 239300 | Hyperphosphatasia with mental retardation syndrome 1 | 239300 | CN030519 | OMIM | 0 | | 304 | 26031 | 610274 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | PIGV CL E G H | 55650 | 239300 | Hyperphosphatasia with mental retardation syndrome 1 | 239300 | CN030519 | OMIM | 0 | | 304 | 26031 | 610274 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | PIGV CL E G H | 55650 | 239300 | Hyperphosphatasia with mental retardation syndrome 1 | 239300 | CN030519 | OMIM | 0 | | 304 | 26031 | 610274 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | PIGV CL E G H | 55650 | 239300 | Hyperphosphatasia with mental retardation syndrome 1 | 239300 | CN030519 | OMIM | 0 | | 304 | 26031 | 610274 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | PLG CL E G H | 5340 | 97231 | | | | ORPHA | 0 | | 297 | 9071 | 173350 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | PLG CL E G H | 5340 | 722 | | | | ORPHA | 0 | | 297 | 9071 | 173350 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | PLG CL E G H | 5340 | 97231 | | | | ORPHA | 0 | | 297 | 9071 | 173350 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | PLG CL E G H | 5340 | 722 | | | | ORPHA | 0 | | 297 | 9071 | 173350 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | PLG CL E G H | 5340 | 97231 | | | | ORPHA | 0 | | 297 | 9071 | 173350 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | PLG CL E G H | 5340 | 722 | | | | ORPHA | 0 | | 297 | 9071 | 173350 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | PLG CL E G H | 5340 | 97231 | | | | ORPHA | 0 | | 297 | 9071 | 173350 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | PLG CL E G H | 5340 | 722 | | | | ORPHA | 0 | | 297 | 9071 | 173350 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | POMK CL E G H | 84197 | 615249 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 | 615249 | C3808964 | OMIM | 0 | | 307 | 26267 | 615247 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | POMK CL E G H | 84197 | 615249 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 | 615249 | C3808964 | OMIM | 0 | | 307 | 26267 | 615247 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | POMK CL E G H | 84197 | 615249 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 | 615249 | C3808964 | OMIM | 0 | | 307 | 26267 | 615247 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | POMK CL E G H | 84197 | 615249 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 | 615249 | C3808964 | OMIM | 0 | | 307 | 26267 | 615247 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | PTCH1 CL E G H | 5727 | 377 | | | | ORPHA | 0 | | 4487 | 9585 | 601309 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | PTCH1 CL E G H | 5727 | 377 | | | | ORPHA | 0 | | 4487 | 9585 | 601309 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | PTCH1 CL E G H | 5727 | 377 | | | | ORPHA | 0 | | 4487 | 9585 | 601309 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | PTCH1 CL E G H | 5727 | 377 | | | | ORPHA | 0 | | 4487 | 9585 | 601309 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | PTCH2 CL E G H | 8643 | 377 | | | | ORPHA | 0 | | 791 | 9586 | 603673 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | PTCH2 CL E G H | 8643 | 377 | | | | ORPHA | 0 | | 791 | 9586 | 603673 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | PTCH2 CL E G H | 8643 | 377 | | | | ORPHA | 0 | | 791 | 9586 | 603673 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | PTCH2 CL E G H | 8643 | 377 | | | | ORPHA | 0 | | 791 | 9586 | 603673 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | PTDSS1 CL E G H | 9791 | 2658 | | | | ORPHA | 0 | | 190 | 9587 | 612792 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | PTDSS1 CL E G H | 9791 | 2658 | | | | ORPHA | 0 | | 190 | 9587 | 612792 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | PTDSS1 CL E G H | 9791 | 2658 | | | | ORPHA | 0 | | 190 | 9587 | 612792 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | PTDSS1 CL E G H | 9791 | 2658 | | | | ORPHA | 0 | | 190 | 9587 | 612792 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | RAD51 CL E G H | 5888 | 84 | | | | ORPHA | 0 | | 358 | 9817 | 179617 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | RAD51 CL E G H | 5888 | 84 | | | | ORPHA | 0 | | 358 | 9817 | 179617 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | RAD51 CL E G H | 5888 | 84 | | | | ORPHA | 0 | | 358 | 9817 | 179617 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | RAD51 CL E G H | 5888 | 84 | | | | ORPHA | 0 | | 358 | 9817 | 179617 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | RAD51C CL E G H | 5889 | 84 | | | | ORPHA | 0 | | 1827 | 9820 | 602774 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | RAD51C CL E G H | 5889 | 84 | | | | ORPHA | 0 | | 1827 | 9820 | 602774 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | RAD51C CL E G H | 5889 | 84 | | | | ORPHA | 0 | | 1827 | 9820 | 602774 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | RAD51C CL E G H | 5889 | 84 | | | | ORPHA | 0 | | 1827 | 9820 | 602774 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | RFWD3 CL E G H | 55159 | 84 | | | | ORPHA | 0 | | 326 | 25539 | 614151 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | RFWD3 CL E G H | 55159 | 84 | | | | ORPHA | 0 | | 326 | 25539 | 614151 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | RFWD3 CL E G H | 55159 | 84 | | | | ORPHA | 0 | | 326 | 25539 | 614151 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | RFWD3 CL E G H | 55159 | 84 | | | | ORPHA | 0 | | 326 | 25539 | 614151 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | ROGDI CL E G H | 79641 | 1946 | | | | ORPHA | 0 | | 560 | 29478 | 614574 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | ROGDI CL E G H | 79641 | 1946 | | | | ORPHA | 0 | | 560 | 29478 | 614574 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | ROGDI CL E G H | 79641 | 1946 | | | | ORPHA | 0 | | 560 | 29478 | 614574 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | ROGDI CL E G H | 79641 | 1946 | | | | ORPHA | 0 | | 560 | 29478 | 614574 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | RPGRIP1 CL E G H | 57096 | 564 | | | | ORPHA | 0 | | 1010 | 13436 | 605446 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | RPGRIP1 CL E G H | 57096 | 564 | | | | ORPHA | 0 | | 1010 | 13436 | 605446 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | RPGRIP1 CL E G H | 57096 | 564 | | | | ORPHA | 0 | | 1010 | 13436 | 605446 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | RPGRIP1 CL E G H | 57096 | 564 | | | | ORPHA | 0 | | 1010 | 13436 | 605446 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | RPGRIP1L CL E G H | 23322 | 220497 | | | | ORPHA | 0 | | 1494 | 29168 | 610937 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | RPGRIP1L CL E G H | 23322 | 564 | | | | ORPHA | 0 | | 1494 | 29168 | 610937 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | RPGRIP1L CL E G H | 23322 | 220497 | | | | ORPHA | 0 | | 1494 | 29168 | 610937 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | RPGRIP1L CL E G H | 23322 | 564 | | | | ORPHA | 0 | | 1494 | 29168 | 610937 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | RPGRIP1L CL E G H | 23322 | 220497 | | | | ORPHA | 0 | | 1494 | 29168 | 610937 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | RPGRIP1L CL E G H | 23322 | 564 | | | | ORPHA | 0 | | 1494 | 29168 | 610937 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | RPGRIP1L CL E G H | 23322 | 220497 | | | | ORPHA | 0 | | 1494 | 29168 | 610937 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | RPGRIP1L CL E G H | 23322 | 564 | | | | ORPHA | 0 | | 1494 | 29168 | 610937 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | RPGRIP1L CL E G H | 23322 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 0 | | 1494 | 29168 | 610937 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | RPGRIP1L CL E G H | 23322 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 0 | | 1494 | 29168 | 610937 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | RPGRIP1L CL E G H | 23322 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 0 | | 1494 | 29168 | 610937 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | RPGRIP1L CL E G H | 23322 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 0 | | 1494 | 29168 | 610937 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | RREB1 CL E G H | 6239 | 567 | | | | ORPHA | 0 | | 297 | 10449 | 602209 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | RREB1 CL E G H | 6239 | 567 | | | | ORPHA | 0 | | 297 | 10449 | 602209 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | RREB1 CL E G H | 6239 | 567 | | | | ORPHA | 0 | | 297 | 10449 | 602209 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | RREB1 CL E G H | 6239 | 567 | | | | ORPHA | 0 | | 297 | 10449 | 602209 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | SAMD9 CL E G H | 54809 | 617053 | Mirage syndrome | 617053 | C4284088 | OMIM | 0 | | 748 | 1348 | 610456 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | SAMD9 CL E G H | 54809 | 617053 | Mirage syndrome | 617053 | C4284088 | OMIM | 0 | | 748 | 1348 | 610456 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | SAMD9 CL E G H | 54809 | 617053 | Mirage syndrome | 617053 | C4284088 | OMIM | 0 | | 748 | 1348 | 610456 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | SAMD9 CL E G H | 54809 | 617053 | Mirage syndrome | 617053 | C4284088 | OMIM | 0 | | 748 | 1348 | 610456 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | SEC24C CL E G H | 9632 | 567 | | | | ORPHA | 0 | | 58 | 10705 | 607185 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | SEC24C CL E G H | 9632 | 567 | | | | ORPHA | 0 | | 58 | 10705 | 607185 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | SEC24C CL E G H | 9632 | 567 | | | | ORPHA | 0 | | 58 | 10705 | 607185 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | SEC24C CL E G H | 9632 | 567 | | | | ORPHA | 0 | | 58 | 10705 | 607185 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | SKI CL E G H | 6497 | 182212 | Shprintzen-Goldberg syndrome | 182212 | C1321551 | OMIM | 0 | | 1062 | 10896 | 164780 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | SKI CL E G H | 6497 | 182212 | Shprintzen-Goldberg syndrome | 182212 | C1321551 | OMIM | 0 | | 1062 | 10896 | 164780 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | SKI CL E G H | 6497 | 182212 | Shprintzen-Goldberg syndrome | 182212 | C1321551 | OMIM | 0 | | 1062 | 10896 | 164780 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | SKI CL E G H | 6497 | 182212 | Shprintzen-Goldberg syndrome | 182212 | C1321551 | OMIM | 0 | | 1062 | 10896 | 164780 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | SLC13A5 CL E G H | 284111 | 1946 | | | | ORPHA | 0 | | 685 | 23089 | 608305 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | SLC13A5 CL E G H | 284111 | 1946 | | | | ORPHA | 0 | | 685 | 23089 | 608305 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | SLC13A5 CL E G H | 284111 | 1946 | | | | ORPHA | 0 | | 685 | 23089 | 608305 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | SLC13A5 CL E G H | 284111 | 1946 | | | | ORPHA | 0 | | 685 | 23089 | 608305 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | SLC29A3 CL E G H | 55315 | 168569 | | | | ORPHA | 0 | | 447 | 23096 | 612373 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | SLC29A3 CL E G H | 55315 | 168569 | | | | ORPHA | 0 | | 447 | 23096 | 612373 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | SLC29A3 CL E G H | 55315 | 168569 | | | | ORPHA | 0 | | 447 | 23096 | 612373 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | SLC29A3 CL E G H | 55315 | 168569 | | | | ORPHA | 0 | | 447 | 23096 | 612373 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | SLX4 CL E G H | 84464 | 84 | | | | ORPHA | 0 | | 1968 | 23845 | 613278 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | SLX4 CL E G H | 84464 | 84 | | | | ORPHA | 0 | | 1968 | 23845 | 613278 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | SLX4 CL E G H | 84464 | 84 | | | | ORPHA | 0 | | 1968 | 23845 | 613278 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | SLX4 CL E G H | 84464 | 84 | | | | ORPHA | 0 | | 1968 | 23845 | 613278 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | SMOC1 CL E G H | 64093 | 1106 | | | | ORPHA | 0 | | 122 | 20318 | 608488 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | SMOC1 CL E G H | 64093 | 1106 | | | | ORPHA | 0 | | 122 | 20318 | 608488 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | SMOC1 CL E G H | 64093 | 1106 | | | | ORPHA | 0 | | 122 | 20318 | 608488 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | SMOC1 CL E G H | 64093 | 1106 | | | | ORPHA | 0 | | 122 | 20318 | 608488 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | SOX2 CL E G H | 6657 | 77298 | | | | ORPHA | 0 | | 211 | 11195 | 184429 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | SOX2 CL E G H | 6657 | 77298 | | | | ORPHA | 0 | | 211 | 11195 | 184429 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | SOX2 CL E G H | 6657 | 77298 | | | | ORPHA | 0 | | 211 | 11195 | 184429 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | SOX2 CL E G H | 6657 | 77298 | | | | ORPHA | 0 | | 211 | 11195 | 184429 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | SUFU CL E G H | 51684 | 377 | | | | ORPHA | 0 | | 1306 | 16466 | 607035 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | SUFU CL E G H | 51684 | 377 | | | | ORPHA | 0 | | 1306 | 16466 | 607035 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | SUFU CL E G H | 51684 | 377 | | | | ORPHA | 0 | | 1306 | 16466 | 607035 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | SUFU CL E G H | 51684 | 377 | | | | ORPHA | 0 | | 1306 | 16466 | 607035 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | TBX1 CL E G H | 6899 | 567 | | | | ORPHA | 0 | | 1169 | 11592 | 602054 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | TBX1 CL E G H | 6899 | 567 | | | | ORPHA | 0 | | 1169 | 11592 | 602054 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | TBX1 CL E G H | 6899 | 567 | | | | ORPHA | 0 | | 1169 | 11592 | 602054 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | TBX1 CL E G H | 6899 | 567 | | | | ORPHA | 0 | | 1169 | 11592 | 602054 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | TCTN1 CL E G H | 79600 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 393 | 26113 | 609863 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | TCTN1 CL E G H | 79600 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 393 | 26113 | 609863 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | TCTN1 CL E G H | 79600 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 393 | 26113 | 609863 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | TCTN1 CL E G H | 79600 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 393 | 26113 | 609863 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | TCTN2 CL E G H | 79867 | 564 | | | | ORPHA | 0 | | 622 | 25774 | 613846 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | TCTN2 CL E G H | 79867 | 564 | | | | ORPHA | 0 | | 622 | 25774 | 613846 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | TCTN2 CL E G H | 79867 | 564 | | | | ORPHA | 0 | | 622 | 25774 | 613846 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | TCTN2 CL E G H | 79867 | 564 | | | | ORPHA | 0 | | 622 | 25774 | 613846 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | TCTN2 CL E G H | 79867 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 622 | 25774 | 613846 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | TCTN2 CL E G H | 79867 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 622 | 25774 | 613846 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | TCTN2 CL E G H | 79867 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 622 | 25774 | 613846 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | TCTN2 CL E G H | 79867 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 622 | 25774 | 613846 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | TGFBR1 CL E G H | 7046 | 609192 | Loeys-Dietz syndrome 1 | 609192 | C2697933 | OMIM | 0 | | 884 | 11772 | 190181 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | TGFBR1 CL E G H | 7046 | 609192 | Loeys-Dietz syndrome 1 | 609192 | C2697933 | OMIM | 0 | | 884 | 11772 | 190181 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | TGFBR1 CL E G H | 7046 | 609192 | Loeys-Dietz syndrome 1 | 609192 | C2697933 | OMIM | 0 | | 884 | 11772 | 190181 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | TGFBR1 CL E G H | 7046 | 609192 | Loeys-Dietz syndrome 1 | 609192 | C2697933 | OMIM | 0 | | 884 | 11772 | 190181 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | TGFBR2 CL E G H | 7048 | 610168 | Loeys-Dietz syndrome 2 | 610168 | C2674876 | OMIM | 0 | | 948 | 11773 | 190182 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | TGFBR2 CL E G H | 7048 | 610168 | Loeys-Dietz syndrome 2 | 610168 | C2674876 | OMIM | 0 | | 948 | 11773 | 190182 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | TGFBR2 CL E G H | 7048 | 610168 | Loeys-Dietz syndrome 2 | 610168 | C2674876 | OMIM | 0 | | 948 | 11773 | 190182 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | TGFBR2 CL E G H | 7048 | 610168 | Loeys-Dietz syndrome 2 | 610168 | C2674876 | OMIM | 0 | | 948 | 11773 | 190182 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | TMEM107 CL E G H | 84314 | 564 | | | | ORPHA | 0 | | 299 | 28128 | 616183 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | TMEM107 CL E G H | 84314 | 564 | | | | ORPHA | 0 | | 299 | 28128 | 616183 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | TMEM107 CL E G H | 84314 | 564 | | | | ORPHA | 0 | | 299 | 28128 | 616183 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | TMEM107 CL E G H | 84314 | 564 | | | | ORPHA | 0 | | 299 | 28128 | 616183 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | TMEM138 CL E G H | 51524 | 2318 | | | | ORPHA | 0 | | 166 | 26944 | 614459 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | TMEM138 CL E G H | 51524 | 2318 | | | | ORPHA | 0 | | 166 | 26944 | 614459 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | TMEM138 CL E G H | 51524 | 2318 | | | | ORPHA | 0 | | 166 | 26944 | 614459 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | TMEM138 CL E G H | 51524 | 2318 | | | | ORPHA | 0 | | 166 | 26944 | 614459 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | TMEM216 CL E G H | 51259 | 2318 | | | | ORPHA | 0 | | 236 | 25018 | 613277 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | TMEM216 CL E G H | 51259 | 564 | | | | ORPHA | 0 | | 236 | 25018 | 613277 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | TMEM216 CL E G H | 51259 | 2318 | | | | ORPHA | 0 | | 236 | 25018 | 613277 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | TMEM216 CL E G H | 51259 | 564 | | | | ORPHA | 0 | | 236 | 25018 | 613277 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | TMEM216 CL E G H | 51259 | 2318 | | | | ORPHA | 0 | | 236 | 25018 | 613277 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | TMEM216 CL E G H | 51259 | 564 | | | | ORPHA | 0 | | 236 | 25018 | 613277 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | TMEM216 CL E G H | 51259 | 2318 | | | | ORPHA | 0 | | 236 | 25018 | 613277 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | TMEM216 CL E G H | 51259 | 564 | | | | ORPHA | 0 | | 236 | 25018 | 613277 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | TMEM231 CL E G H | 79583 | 2318 | | | | ORPHA | 0 | | 463 | 37234 | 614949 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | TMEM231 CL E G H | 79583 | 564 | | | | ORPHA | 0 | | 463 | 37234 | 614949 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | TMEM231 CL E G H | 79583 | 2318 | | | | ORPHA | 0 | | 463 | 37234 | 614949 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | TMEM231 CL E G H | 79583 | 564 | | | | ORPHA | 0 | | 463 | 37234 | 614949 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | TMEM231 CL E G H | 79583 | 2318 | | | | ORPHA | 0 | | 463 | 37234 | 614949 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | TMEM231 CL E G H | 79583 | 564 | | | | ORPHA | 0 | | 463 | 37234 | 614949 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | TMEM231 CL E G H | 79583 | 2318 | | | | ORPHA | 0 | | 463 | 37234 | 614949 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | TMEM231 CL E G H | 79583 | 564 | | | | ORPHA | 0 | | 463 | 37234 | 614949 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | TMEM237 CL E G H | 65062 | 2318 | | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | TMEM237 CL E G H | 65062 | 220497 | | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | TMEM237 CL E G H | 65062 | 2318 | | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | TMEM237 CL E G H | 65062 | 220497 | | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | TMEM237 CL E G H | 65062 | 2318 | | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | TMEM237 CL E G H | 65062 | 220497 | | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | TMEM237 CL E G H | 65062 | 220497 | | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | TMEM237 CL E G H | 65062 | 2318 | | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | TMEM237 CL E G H | 65062 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | TMEM237 CL E G H | 65062 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | TMEM237 CL E G H | 65062 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | TMEM237 CL E G H | 65062 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | TMEM67 CL E G H | 91147 | 564 | | | | ORPHA | 0 | | 928 | 28396 | 609884 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | TMEM67 CL E G H | 91147 | 564 | | | | ORPHA | 0 | | 928 | 28396 | 609884 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | TMEM67 CL E G H | 91147 | 564 | | | | ORPHA | 0 | | 928 | 28396 | 609884 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | TMEM67 CL E G H | 91147 | 564 | | | | ORPHA | 0 | | 928 | 28396 | 609884 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | TMEM67 CL E G H | 91147 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 928 | 28396 | 609884 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | TMEM67 CL E G H | 91147 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 928 | 28396 | 609884 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | TMEM67 CL E G H | 91147 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 928 | 28396 | 609884 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | TMEM67 CL E G H | 91147 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 928 | 28396 | 609884 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | TMEM67 CL E G H | 91147 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 0 | | 928 | 28396 | 609884 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | TMEM67 CL E G H | 91147 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 0 | | 928 | 28396 | 609884 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | TMEM67 CL E G H | 91147 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 0 | | 928 | 28396 | 609884 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | TMEM67 CL E G H | 91147 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 0 | | 928 | 28396 | 609884 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | TMEM67 CL E G H | 91147 | 607361 | Meckel syndrome type 3 | 607361 | C1846357 | OMIM | 0 | | 928 | 28396 | 609884 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | TMEM67 CL E G H | 91147 | 607361 | Meckel syndrome type 3 | 607361 | C1846357 | OMIM | 0 | | 928 | 28396 | 609884 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | TMEM67 CL E G H | 91147 | 607361 | Meckel syndrome type 3 | 607361 | C1846357 | OMIM | 0 | | 928 | 28396 | 609884 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | TMEM67 CL E G H | 91147 | 607361 | Meckel syndrome type 3 | 607361 | C1846357 | OMIM | 0 | | 928 | 28396 | 609884 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | TREM2 CL E G H | 54209 | 2770 | | | | ORPHA | 0 | | 154 | 17761 | 605086 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | TREM2 CL E G H | 54209 | 2770 | | | | ORPHA | 0 | | 154 | 17761 | 605086 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | TREM2 CL E G H | 54209 | 2770 | | | | ORPHA | 0 | | 154 | 17761 | 605086 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | TREM2 CL E G H | 54209 | 2770 | | | | ORPHA | 0 | | 154 | 17761 | 605086 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | TRPV4 CL E G H | 59341 | 2635 | | | | ORPHA | 0 | | 1018 | 18083 | 605427 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | TRPV4 CL E G H | 59341 | 2635 | | | | ORPHA | 0 | | 1018 | 18083 | 605427 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | TRPV4 CL E G H | 59341 | 2635 | | | | ORPHA | 0 | | 1018 | 18083 | 605427 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | TRPV4 CL E G H | 59341 | 2635 | | | | ORPHA | 0 | | 1018 | 18083 | 605427 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | TSC1 CL E G H | 7248 | 538 | | | | ORPHA | 0 | | 4172 | 12362 | 605284 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | TSC1 CL E G H | 7248 | 538 | | | | ORPHA | 0 | | 4172 | 12362 | 605284 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | TSC1 CL E G H | 7248 | 538 | | | | ORPHA | 0 | | 4172 | 12362 | 605284 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | TSC1 CL E G H | 7248 | 538 | | | | ORPHA | 0 | | 4172 | 12362 | 605284 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | TSC2 CL E G H | 7249 | 538 | | | | ORPHA | 0 | | 9638 | 12363 | 191092 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | TSC2 CL E G H | 7249 | 538 | | | | ORPHA | 0 | | 9638 | 12363 | 191092 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | TSC2 CL E G H | 7249 | 538 | | | | ORPHA | 0 | | 9638 | 12363 | 191092 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | TSC2 CL E G H | 7249 | 538 | | | | ORPHA | 0 | | 9638 | 12363 | 191092 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | TYROBP CL E G H | 7305 | 2770 | | | | ORPHA | 0 | | 110 | 12449 | 604142 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | TYROBP CL E G H | 7305 | 2770 | | | | ORPHA | 0 | | 110 | 12449 | 604142 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | TYROBP CL E G H | 7305 | 2770 | | | | ORPHA | 0 | | 110 | 12449 | 604142 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | TYROBP CL E G H | 7305 | 2770 | | | | ORPHA | 0 | | 110 | 12449 | 604142 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | UBE2T CL E G H | 29089 | 84 | | | | ORPHA | 0 | | 45 | 25009 | 610538 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | UBE2T CL E G H | 29089 | 84 | | | | ORPHA | 0 | | 45 | 25009 | 610538 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | UBE2T CL E G H | 29089 | 84 | | | | ORPHA | 0 | | 45 | 25009 | 610538 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | UBE2T CL E G H | 29089 | 84 | | | | ORPHA | 0 | | 45 | 25009 | 610538 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | UFD1 CL E G H | 7353 | 567 | | | | ORPHA | 0 | | 415 | 12520 | 601754 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | UFD1 CL E G H | 7353 | 567 | | | | ORPHA | 0 | | 415 | 12520 | 601754 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | UFD1 CL E G H | 7353 | 567 | | | | ORPHA | 0 | | 415 | 12520 | 601754 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | UFD1 CL E G H | 7353 | 567 | | | | ORPHA | 0 | | 415 | 12520 | 601754 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | VAC14 CL E G H | 55697 | 3472 | Meningococcemia | | | ORPHA | 0 | | 367 | 25507 | 604632 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | VAC14 CL E G H | 55697 | 3472 | Meningococcemia | | | ORPHA | 0 | | 367 | 25507 | 604632 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | VAC14 CL E G H | 55697 | 3472 | Meningococcemia | | | ORPHA | 0 | | 367 | 25507 | 604632 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | VAC14 CL E G H | 55697 | 3472 | Meningococcemia | | | ORPHA | 0 | | 367 | 25507 | 604632 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | WDPCP CL E G H | 51057 | 564 | | | | ORPHA | 0 | | 587 | 28027 | 613580 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | WDPCP CL E G H | 51057 | 564 | | | | ORPHA | 0 | | 587 | 28027 | 613580 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | WDPCP CL E G H | 51057 | 564 | | | | ORPHA | 0 | | 587 | 28027 | 613580 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | WDPCP CL E G H | 51057 | 564 | | | | ORPHA | 0 | | 587 | 28027 | 613580 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | WHCR CL E G H | 7467 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 0 | | | 12764 | 0 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | WHCR CL E G H | 7467 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 0 | | | 12764 | 0 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | WHCR CL E G H | 7467 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 0 | | | 12764 | 0 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | WHCR CL E G H | 7467 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 0 | | | 12764 | 0 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | XRCC2 CL E G H | 7516 | 84 | | | | ORPHA | 0 | | 697 | 12829 | 600375 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | XRCC2 CL E G H | 7516 | 84 | | | | ORPHA | 0 | | 697 | 12829 | 600375 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | XRCC2 CL E G H | 7516 | 84 | | | | ORPHA | 0 | | 697 | 12829 | 600375 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | XRCC2 CL E G H | 7516 | 84 | | | | ORPHA | 0 | | 697 | 12829 | 600375 |
HP:0000238 | HP:0002343 | Normal pressure hydrocephalus | 1 | ZNF423 CL E G H | 23090 | 2318 | | | | ORPHA | 0 | | 810 | 16762 | 604557 |
HP:0000238 | HP:0010953 | Noncommunicating hydrocephalus | 1 | ZNF423 CL E G H | 23090 | 2318 | | | | ORPHA | 0 | | 810 | 16762 | 604557 |
HP:0000238 | HP:0001334 | Communicating hydrocephalus | 1 | ZNF423 CL E G H | 23090 | 2318 | | | | ORPHA | 0 | | 810 | 16762 | 604557 |
HP:0000238 | HP:0006882 | Severe hydrocephalus | 1 | ZNF423 CL E G H | 23090 | 2318 | | | | ORPHA | 0 | | 810 | 16762 | 604557 |