Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | ACTA2 CL E G H | 59 | 130 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 94 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | ACVRL1 CL E G H | 94 | 175 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | | | | 178 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | ACVRL1 CL E G H | 94 | 175 | OMIM:600376 | Telangiectasia, hereditary hemorrhagic, type 2 | | | | 178 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | AHCY CL E G H | 191 | 343 | ORPHA:88618 | S-adenosylhomocysteine hydrolase deficiency | | | | 31 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300232 | Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration | | | | 60 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | ALDH7A1 CL E G H | 501 | 877 | ORPHA:3006 | Pyridoxine-dependent epilepsy | | | | 227 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | ALG11 CL E G H | 440138 | 32456 | ORPHA:280071 | ALG11-CDG | | | | 41 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | | | | 68 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | ALG2 CL E G H | 85365 | 23159 | ORPHA:79326 | ALG2-CDG | | | | 46 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | | | | 93 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | ANGPTL6 CL E G H | 83854 | 23140 | ORPHA:231160 | Familial cerebral saccular aneurysm | | | | | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | ATP11A CL E G H | 23250 | 13552 | OMIM:619851 | LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24 | | | | | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | CD109 CL E G H | 135228 | 21685 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | | | | | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | CDH2 CL E G H | 1000 | 1759 | OMIM:618929 | AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS | | | | | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:231160 | Familial cerebral saccular aneurysm | | | | 749 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | | | | | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | COX16 CL E G H | 51241 | 20213 | OMIM:619355 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22 | | | | | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | | | | | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | | | | | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | DCC CL E G H | 1630 | 2701 | OMIM:617542 | GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2 | | | | 36 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | | | | 217 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | DTYMK CL E G H | 1841 | 3061 | OMIM:619847 | | | | | | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 172 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | ENG CL E G H | 2022 | 3349 | ORPHA:231160 | Familial cerebral saccular aneurysm | | | | 186 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | ENG CL E G H | 2022 | 3349 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | | | | 186 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | ENG CL E G H | 2022 | 3349 | OMIM:187300 | Telangiectasia, hereditary hemorrhagic, type 1 | | | | 186 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | F10 CL E G H | 2159 | 3528 | ORPHA:328 | Congenital factor X deficiency | | | | 33 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 1361 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | FOXE3 CL E G H | 2301 | 3808 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 23 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | GAA CL E G H | 2548 | 4065 | OMIM:232300 | Glycogen storage disease II | | | | 407 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | GCDH CL E G H | 2639 | 4189 | ORPHA:25 | Glutaryl-CoA dehydrogenase deficiency | | | | 115 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | GDF2 CL E G H | 2658 | 4217 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | | | | 8 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | GP1BA CL E G H | 2811 | 4439 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | | | | 23 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | | | | 8 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:208447 | Bilateral generalized polymicrogyria | | | | 108 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | HEY2 CL E G H | 23493 | 4881 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | ITGA2 CL E G H | 3673 | 6137 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | | | | 119 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | ITGA2B CL E G H | 3674 | 6138 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | | | | 69 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | ITGB3 CL E G H | 3690 | 6156 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | | | | 80 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | L1CAM CL E G H | 3897 | 6470 | OMIM:304100 | Corpus callosum, partial agenesis of, X-linked | | | | 134 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | LOX CL E G H | 4015 | 6664 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 6 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | MAN2C1 CL E G H | 4123 | 6827 | OMIM:619775 | CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2 | | | | | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | MAT2A CL E G H | 4144 | 6904 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 13 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | MFAP5 CL E G H | 8076 | 29673 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 11 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | MPDU1 CL E G H | 9526 | 7207 | ORPHA:79323 | MPDU1-CDG | | | | 32 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | MRE11 CL E G H | 4361 | 7230 | ORPHA:251347 | Ataxia-telangiectasia-like disorder | | | | 532 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | MTRR CL E G H | 4552 | 7473 | ORPHA:2169 | Methylcobalamin deficiency type cblE | | | | 88 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | MYH11 CL E G H | 4629 | 7569 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 418 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | MYLK CL E G H | 4638 | 7590 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 326 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | NARS1 CL E G H | 4677 | 7643 | OMIM:619092 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG | | | | | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | | | | | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | | | | | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | | | | | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | | | | | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:619260 | SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA | | | | 15 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | PLCH1 CL E G H | 23007 | 29185 | OMIM:619895 | | | | | | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | PLPBP CL E G H | 11212 | 9457 | ORPHA:3006 | Pyridoxine-dependent epilepsy | | | | 6 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | PRKG1 CL E G H | 5592 | 9414 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 41 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | RASA1 CL E G H | 5921 | 9871 | ORPHA:90307 | Parkes Weber syndrome | | | | 88 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | SEPSECS CL E G H | 51091 | 30605 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 66 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | SLC33A1 CL E G H | 9197 | 95 | OMIM:614482 | Congenital cataracts, hearing loss, and neurodegeneration | | | | 48 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | SMAD2 CL E G H | 4087 | 6768 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 7 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | SMAD3 CL E G H | 4088 | 6769 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 260 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | SMAD3 CL E G H | 4088 | 6769 | OMIM:613795 | LOEYS-DIETZ SYNDROME 3; LDS3 | | | | 260 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 504 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | | | | 504 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | | | | 37 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:544254 | SYNGAP1-related developmental and epileptic encephalopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | TGFB2 CL E G H | 7042 | 11768 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 162 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | TGFB3 CL E G H | 7043 | 11769 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 85 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | TGFBR1 CL E G H | 7046 | 11772 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 239 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 253 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | TGFBR3 CL E G H | 7049 | 11774 | ORPHA:231160 | Familial cerebral saccular aneurysm | | | | 1 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | THSD1 CL E G H | 55901 | 17754 | OMIM:618734 | ANEURYSM, INTRACRANIAL BERRY, 12; ANIB12 | | | | 2 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | THSD1 CL E G H | 55901 | 17754 | ORPHA:231160 | Familial cerebral saccular aneurysm | | | | 2 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | | | | | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | | | | | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | | | | | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | | | | | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | | | | | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | | | | | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | | | | | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | TSEN15 CL E G H | 116461 | 16791 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 3 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | TSEN2 CL E G H | 80746 | 28422 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 84 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | TSEN34 CL E G H | 79042 | 15506 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 57 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 102 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | WAC CL E G H | 51322 | 17327 | ORPHA:466950 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | | | | 20 | | |
HP:0012703 | HP:0012703 | Abnormal subarachnoid space morphology | 0 | WARS2 CL E G H | 10352 | 12730 | ORPHA:572798 | WARS2-related combined oxidative phosphorylation defect | | | | 2 | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | ACTA2 CL E G H | 59 | 130 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 94 | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | ACVRL1 CL E G H | 94 | 175 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 178 | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | ACVRL1 CL E G H | 94 | 175 | OMIM:600376 | Telangiectasia, hereditary hemorrhagic, type 2 | . | | | 178 | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | AHCY CL E G H | 191 | 343 | ORPHA:88618 | S-adenosylhomocysteine hydrolase deficiency | HP:0040283 - Occasional | | | 31 | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300232 | Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration | . | | | 60 | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | ALDH7A1 CL E G H | 501 | 877 | ORPHA:3006 | Pyridoxine-dependent epilepsy | HP:0040283 - Occasional | | | 227 | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | ALG11 CL E G H | 440138 | 32456 | ORPHA:280071 | ALG11-CDG | HP:0040283 - Occasional | | | 41 | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | | | | 68 | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | ALG2 CL E G H | 85365 | 23159 | ORPHA:79326 | ALG2-CDG | HP:0040283 - Occasional | | | 46 | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | HP:0040283 - Occasional | | | 93 | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | ANGPTL6 CL E G H | 83854 | 23140 | ORPHA:231160 | Familial cerebral saccular aneurysm | HP:0040283 - Occasional | | | | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | ATP11A CL E G H | 23250 | 13552 | OMIM:619851 | LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24 | | | | | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | CD109 CL E G H | 135228 | 21685 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040284 - Very rare | | | | | |
HP:0012703 | HP:0032327 | Interhemispheric cyst | 1 | CDH2 CL E G H | 1000 | 1759 | OMIM:618929 | AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS | | | | | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:231160 | Familial cerebral saccular aneurysm | HP:0040283 - Occasional | | | 749 | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | | | | | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | COX16 CL E G H | 51241 | 20213 | OMIM:619355 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22 | | | | | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | | | | | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | | | | | | |
HP:0012703 | HP:0032327 | Interhemispheric cyst | 1 | DCC CL E G H | 1630 | 2701 | OMIM:617542 | GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2 | | | | 36 | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | . | | | 217 | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | DTYMK CL E G H | 1841 | 3061 | OMIM:619847 | | | | | | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 172 | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | ENG CL E G H | 2022 | 3349 | ORPHA:231160 | Familial cerebral saccular aneurysm | HP:0040283 - Occasional | | | 186 | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | ENG CL E G H | 2022 | 3349 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 186 | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | ENG CL E G H | 2022 | 3349 | OMIM:187300 | Telangiectasia, hereditary hemorrhagic, type 1 | . | | | 186 | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | F10 CL E G H | 2159 | 3528 | ORPHA:328 | Congenital factor X deficiency | HP:0040284 - Very rare | | | 33 | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | FBN1 CL E G H | 2200 | 3603 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 1361 | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | FOXE3 CL E G H | 2301 | 3808 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 23 | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | GAA CL E G H | 2548 | 4065 | OMIM:232300 | Glycogen storage disease II | | | | 407 | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | GCDH CL E G H | 2639 | 4189 | ORPHA:25 | Glutaryl-CoA dehydrogenase deficiency | HP:0040282 - Frequent | | | 115 | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | GDF2 CL E G H | 2658 | 4217 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 8 | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | GP1BA CL E G H | 2811 | 4439 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040284 - Very rare | | | 23 | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | GP1BB CL E G H | 2812 | 4440 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040284 - Very rare | | | 8 | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:208447 | Bilateral generalized polymicrogyria | HP:0040283 - Occasional | | | 108 | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | HEY2 CL E G H | 23493 | 4881 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | ITGA2 CL E G H | 3673 | 6137 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040284 - Very rare | | | 119 | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | ITGA2B CL E G H | 3674 | 6138 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040284 - Very rare | | | 69 | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | ITGB3 CL E G H | 3690 | 6156 | ORPHA:853 | Fetal and neonatal alloimmune thrombocytopenia | HP:0040284 - Very rare | | | 80 | | |
HP:0012703 | HP:0032327 | Interhemispheric cyst | 1 | L1CAM CL E G H | 3897 | 6470 | OMIM:304100 | Corpus callosum, partial agenesis of, X-linked | . | | | 134 | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | LOX CL E G H | 4015 | 6664 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 6 | | |
HP:0012703 | HP:0032327 | Interhemispheric cyst | 1 | MAN2C1 CL E G H | 4123 | 6827 | OMIM:619775 | CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2 | | | | | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | MAT2A CL E G H | 4144 | 6904 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 13 | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | MFAP5 CL E G H | 8076 | 29673 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 11 | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | MPDU1 CL E G H | 9526 | 7207 | ORPHA:79323 | MPDU1-CDG | | | | 32 | | |
HP:0012703 | HP:0100953 | Enlarged interhemispheric fissure | 1 | MRE11 CL E G H | 4361 | 7230 | ORPHA:251347 | Ataxia-telangiectasia-like disorder | HP:0040282 - Frequent | | | 532 | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | MTRR CL E G H | 4552 | 7473 | ORPHA:2169 | Methylcobalamin deficiency type cblE | HP:0040283 - Occasional | | | 88 | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | MYH11 CL E G H | 4629 | 7569 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 418 | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | MYLK CL E G H | 4638 | 7590 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 326 | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | NARS1 CL E G H | 4677 | 7643 | OMIM:619092 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG | | | | | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | | | | | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | | | | | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | | | | | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | | | | | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:619260 | SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA | | | | 15 | | |
HP:0012703 | HP:0032327 | Interhemispheric cyst | 1 | PLCH1 CL E G H | 23007 | 29185 | OMIM:619895 | | | | | | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | PLPBP CL E G H | 11212 | 9457 | ORPHA:3006 | Pyridoxine-dependent epilepsy | HP:0040283 - Occasional | | | 6 | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | PRKG1 CL E G H | 5592 | 9414 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 41 | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | RASA1 CL E G H | 5921 | 9871 | ORPHA:90307 | Parkes Weber syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0012703 | HP:0032327 | Interhemispheric cyst | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | SEPSECS CL E G H | 51091 | 30605 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 66 | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | SLC33A1 CL E G H | 9197 | 95 | OMIM:614482 | Congenital cataracts, hearing loss, and neurodegeneration | | | | 48 | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | SMAD2 CL E G H | 4087 | 6768 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 7 | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | SMAD3 CL E G H | 4088 | 6769 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 260 | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | SMAD3 CL E G H | 4088 | 6769 | OMIM:613795 | LOEYS-DIETZ SYNDROME 3; LDS3 | | | | 260 | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 504 | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 504 | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040283 - Occasional | | | 37 | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | TGFB2 CL E G H | 7042 | 11768 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 162 | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | TGFB3 CL E G H | 7043 | 11769 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 85 | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | TGFBR1 CL E G H | 7046 | 11772 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 239 | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 253 | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | TGFBR3 CL E G H | 7049 | 11774 | ORPHA:231160 | Familial cerebral saccular aneurysm | HP:0040283 - Occasional | | | 1 | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | THSD1 CL E G H | 55901 | 17754 | OMIM:618734 | ANEURYSM, INTRACRANIAL BERRY, 12; ANIB12 | | | | 2 | | |
HP:0012703 | HP:0002138 | Subarachnoid hemorrhage | 1 | THSD1 CL E G H | 55901 | 17754 | ORPHA:231160 | Familial cerebral saccular aneurysm | HP:0040283 - Occasional | | | 2 | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | | | | | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | | | | | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | | | | | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | | | | | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | | | | | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | | | | | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | | | | | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | TSEN15 CL E G H | 116461 | 16791 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 3 | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | TSEN2 CL E G H | 80746 | 28422 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 84 | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | TSEN34 CL E G H | 79042 | 15506 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 57 | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 102 | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | WAC CL E G H | 51322 | 17327 | ORPHA:466950 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | HP:0040283 - Occasional | | | 20 | | |
HP:0012703 | HP:0012704 | Widened subarachnoid space | 1 | WARS2 CL E G H | 10352 | 12730 | ORPHA:572798 | WARS2-related combined oxidative phosphorylation defect | HP:0040283 - Occasional | | | 2 | | |
HP:0012703 | HP:0012766 | Widened cerebral subarachnoid space | 2 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | HP:0040283 - Occasional | | | 68 | | |
HP:0012703 | HP:0012766 | Widened cerebral subarachnoid space | 2 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0012703 | HP:0012766 | Widened cerebral subarachnoid space | 2 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0012703 | HP:0012766 | Widened cerebral subarachnoid space | 2 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0012703 | HP:0012766 | Widened cerebral subarachnoid space | 2 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0012703 | HP:0012766 | Widened cerebral subarachnoid space | 2 | NARS1 CL E G H | 4677 | 7643 | OMIM:619092 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG | | | | | | |
HP:0012703 | HP:0012766 | Widened cerebral subarachnoid space | 2 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0012703 | HP:0012766 | Widened cerebral subarachnoid space | 2 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0012703 | HP:0012766 | Widened cerebral subarachnoid space | 2 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0012703 | HP:0012766 | Widened cerebral subarachnoid space | 2 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0012703 | HP:0012765 | Widened cerebellar subarachnoid space | 2 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:619260 | SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA | | | | 15 | | |
HP:0012703 | HP:0012765 | Widened cerebellar subarachnoid space | 2 | SEPSECS CL E G H | 51091 | 30605 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 66 | | |
HP:0012703 | HP:0012766 | Widened cerebral subarachnoid space | 2 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0012703 | HP:0012766 | Widened cerebral subarachnoid space | 2 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0012703 | HP:0012766 | Widened cerebral subarachnoid space | 2 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0012703 | HP:0012766 | Widened cerebral subarachnoid space | 2 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0012703 | HP:0012766 | Widened cerebral subarachnoid space | 2 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0012703 | HP:0012766 | Widened cerebral subarachnoid space | 2 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0012703 | HP:0012766 | Widened cerebral subarachnoid space | 2 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0012703 | HP:0012765 | Widened cerebellar subarachnoid space | 2 | TSEN15 CL E G H | 116461 | 16791 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 3 | | |
HP:0012703 | HP:0012765 | Widened cerebellar subarachnoid space | 2 | TSEN2 CL E G H | 80746 | 28422 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 84 | | |
HP:0012703 | HP:0012765 | Widened cerebellar subarachnoid space | 2 | TSEN34 CL E G H | 79042 | 15506 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 57 | | |
HP:0012703 | HP:0012765 | Widened cerebellar subarachnoid space | 2 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040283 - Occasional | | | 102 | | |
HP:0012703 | HP:0012766 | Widened cerebral subarachnoid space | 2 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |