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:0002084 | HP:0002084 | Encephalocele | 0 | AIPL1 CL E G H | 23746 | 65 | | | | ORPHA | 1 | | 479 | 359 | 604392 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | ALX4 CL E G H | 60529 | 228390 | | | | ORPHA | 1 | | 281 | 450 | 605420 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | ALX4 CL E G H | 60529 | 613451 | Frontonasal dysplasia 2 | 613451 | C3150703 | OMIM | 1 | | 281 | 450 | 605420 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | ALX4 CL E G H | 60529 | 609597 | Parietal foramina 2 | 609597 | C1865044 | OMIM | 1 | | 281 | 450 | 605420 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 394 | 29216 | 610911 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | B9D1 CL E G H | 27077 | 564 | | | | ORPHA | 1 | | 310 | 24123 | 614144 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | B9D2 CL E G H | 80776 | 564 | | | | ORPHA | 1 | | 73 | 28636 | 611951 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | CC2D2A CL E G H | 57545 | 564 | | | | ORPHA | 1 | | 1525 | 29253 | 612013 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | CEP120 CL E G H | 153241 | 616300 | Short-rib thoracic dysplasia 13 with or without polydactyly | 616300 | C4225378 | OMIM | 1 | | 433 | 26690 | 613446 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | CEP290 CL E G H | 80184 | 564 | | | | ORPHA | 1 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | CEP290 CL E G H | 80184 | 65 | | | | ORPHA | 1 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | CEP290 CL E G H | 80184 | 611134 | Meckel syndrome type 4 | 611134 | C1970161 | OMIM | 1 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | CEP55 CL E G H | 55165 | 564 | | | | ORPHA | 1 | | 89 | 1161 | 610000 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | CRB1 CL E G H | 23418 | 65 | | | | ORPHA | 1 | | 1633 | 2343 | 604210 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | CRX CL E G H | 1406 | 65 | | | | ORPHA | 1 | | 499 | 2383 | 602225 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | CSPP1 CL E G H | 79848 | 564 | | | | ORPHA | 1 | | 1074 | 26193 | 611654 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | FGFR1 CL E G H | 2260 | 2117 | Encephalopathy recurrent of childhood | | | ORPHA | 1 | | 936 | 3688 | 136350 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | FKTN CL E G H | 2218 | 253800 | Fukuyama congenital muscular dystrophy | 253800 | C0410174 | OMIM | 1 | | 914 | 3622 | 607440 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | FLNB CL E G H | 2317 | 108720 | Atelosteogenesis type 1 | 108720 | C0265283 | OMIM | 1 | | 1624 | 3755 | 603381 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | FRAS1 CL E G H | 80144 | 219000 | Cryptophthalmos syndrome | 219000 | C0265233 | OMIM | 1 | | 1287 | 19185 | 607830 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | GDF6 CL E G H | 392255 | 65 | | | | ORPHA | 1 | | 406 | 4221 | 601147 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | GUCY2D CL E G H | 3000 | 65 | | | | ORPHA | 1 | | 1048 | 4689 | 600179 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | IFT140 CL E G H | 9742 | 65 | | | | ORPHA | 1 | | 1686 | 29077 | 614620 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | IMPDH1 CL E G H | 3614 | 65 | | | | ORPHA | 1 | | 542 | 6052 | 146690 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | IQCB1 CL E G H | 9657 | 65 | | | | ORPHA | 1 | | 496 | 28949 | 609237 |
HP:0002084 | HP:0002084 | Encephalocele | 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:0002084 | HP:0002084 | Encephalocele | 0 | KCNJ13 CL E G H | 3769 | 65 | | | | ORPHA | 1 | | 235 | 6259 | 603208 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | LCA5 CL E G H | 167691 | 65 | | | | ORPHA | 1 | | 686 | 31923 | 611408 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | LRAT CL E G H | 9227 | 65 | | | | ORPHA | 1 | | 242 | 6685 | 604863 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | MKS1 CL E G H | 54903 | 564 | | | | ORPHA | 1 | | 839 | 7121 | 609883 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | MSX2 CL E G H | 4488 | 168500 | Parietal foramina 1 | 168500 | C1868599 | OMIM | 1 | | 206 | 7392 | 123101 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | NMNAT1 CL E G H | 64802 | 65 | | | | ORPHA | 1 | | 226 | 17877 | 608700 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | PCYT1A CL E G H | 5130 | 65 | | | | ORPHA | 1 | | 358 | 8754 | 123695 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | RD3 CL E G H | 343035 | 65 | | | | ORPHA | 1 | | 256 | 19689 | 180040 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | RDH12 CL E G H | 145226 | 65 | | | | ORPHA | 1 | | 495 | 19977 | 608830 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | RPE65 CL E G H | 6121 | 65 | | | | ORPHA | 1 | | 783 | 10294 | 180069 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | RPGRIP1 CL E G H | 57096 | 564 | | | | ORPHA | 1 | | 1010 | 13436 | 605446 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | RPGRIP1 CL E G H | 57096 | 65 | | | | ORPHA | 1 | | 1010 | 13436 | 605446 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | RPGRIP1L CL E G H | 23322 | 564 | | | | ORPHA | 1 | | 1494 | 29168 | 610937 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | RPGRIP1L CL E G H | 23322 | 611560 | Joubert syndrome 7 | 611560 | C1969053 | OMIM | 1 | | 1494 | 29168 | 610937 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | SPATA7 CL E G H | 55812 | 65 | | | | ORPHA | 1 | | 432 | 20423 | 609868 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | TCTN2 CL E G H | 79867 | 564 | | | | ORPHA | 1 | | 622 | 25774 | 613846 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | TCTN2 CL E G H | 79867 | 613885 | Meckel syndrome type 8 | 613885 | C3836857 | OMIM | 1 | | 622 | 25774 | 613846 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | TMEM107 CL E G H | 84314 | 564 | | | | ORPHA | 1 | | 299 | 28128 | 616183 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | TMEM216 CL E G H | 51259 | 564 | | | | ORPHA | 1 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | TMEM216 CL E G H | 51259 | 603194 | Meckel syndrome type 2 | 603194 | C1864148 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | TMEM231 CL E G H | 79583 | 564 | | | | ORPHA | 1 | | 463 | 37234 | 614949 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | TMEM237 CL E G H | 65062 | 614424 | Joubert syndrome 14 | 614424 | C3280766 | OMIM | 1 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | TMEM67 CL E G H | 91147 | 564 | | | | ORPHA | 1 | | 928 | 28396 | 609884 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | TMEM67 CL E G H | 91147 | 607361 | Meckel syndrome type 3 | 607361 | C1846357 | OMIM | 1 | | 928 | 28396 | 609884 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | TULP1 CL E G H | 7287 | 65 | | | | ORPHA | 1 | | 587 | 12423 | 602280 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | WDPCP CL E G H | 51057 | 564 | | | | ORPHA | 1 | | 587 | 28027 | 613580 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | ZSWIM6 CL E G H | 57688 | 603671 | Acromelic frontonasal dysostosis | 603671 | C1863616 | OMIM | 1 | | 659 | 29316 | 615951 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | ZSWIM6 CL E G H | 57688 | 1827 | Dextrocardia | | C0011813 | ORPHA | 1 | | 659 | 29316 | 615951 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | AIPL1 CL E G H | 23746 | 65 | | | | ORPHA | 1 | | 479 | 359 | 604392 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | AIPL1 CL E G H | 23746 | 65 | | | | ORPHA | 1 | | 479 | 359 | 604392 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | AIPL1 CL E G H | 23746 | 65 | | | | ORPHA | 1 | | 479 | 359 | 604392 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | AIPL1 CL E G H | 23746 | 65 | | | | ORPHA | 1 | | 479 | 359 | 604392 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | AIPL1 CL E G H | 23746 | 65 | | | | ORPHA | 1 | | 479 | 359 | 604392 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | AIPL1 CL E G H | 23746 | 65 | | | | ORPHA | 1 | | 479 | 359 | 604392 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | AIPL1 CL E G H | 23746 | 65 | | | | ORPHA | 1 | | 479 | 359 | 604392 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | AIPL1 CL E G H | 23746 | 65 | | | | ORPHA | 1 | | 479 | 359 | 604392 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | AIPL1 CL E G H | 23746 | 65 | | | | ORPHA | 1 | | 479 | 359 | 604392 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | ALX4 CL E G H | 60529 | 228390 | | | | ORPHA | 1 | | 281 | 450 | 605420 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | ALX4 CL E G H | 60529 | 228390 | | | | ORPHA | 1 | | 281 | 450 | 605420 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | ALX4 CL E G H | 60529 | 228390 | | | | ORPHA | 1 | | 281 | 450 | 605420 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | ALX4 CL E G H | 60529 | 228390 | | | | ORPHA | 1 | | 281 | 450 | 605420 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | ALX4 CL E G H | 60529 | 228390 | | | | ORPHA | 1 | | 281 | 450 | 605420 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | ALX4 CL E G H | 60529 | 228390 | | | | ORPHA | 1 | | 281 | 450 | 605420 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | ALX4 CL E G H | 60529 | 228390 | | | | ORPHA | 1 | | 281 | 450 | 605420 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | ALX4 CL E G H | 60529 | 228390 | | | | ORPHA | 1 | | 281 | 450 | 605420 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | ALX4 CL E G H | 60529 | 228390 | | | | ORPHA | 1 | | 281 | 450 | 605420 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | ALX4 CL E G H | 60529 | 613451 | Frontonasal dysplasia 2 | 613451 | C3150703 | OMIM | 1 | | 281 | 450 | 605420 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | ALX4 CL E G H | 60529 | 613451 | Frontonasal dysplasia 2 | 613451 | C3150703 | OMIM | 1 | | 281 | 450 | 605420 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | ALX4 CL E G H | 60529 | 613451 | Frontonasal dysplasia 2 | 613451 | C3150703 | OMIM | 1 | | 281 | 450 | 605420 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | ALX4 CL E G H | 60529 | 613451 | Frontonasal dysplasia 2 | 613451 | C3150703 | OMIM | 1 | | 281 | 450 | 605420 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | ALX4 CL E G H | 60529 | 613451 | Frontonasal dysplasia 2 | 613451 | C3150703 | OMIM | 1 | | 281 | 450 | 605420 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | ALX4 CL E G H | 60529 | 613451 | Frontonasal dysplasia 2 | 613451 | C3150703 | OMIM | 1 | | 281 | 450 | 605420 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | ALX4 CL E G H | 60529 | 613451 | Frontonasal dysplasia 2 | 613451 | C3150703 | OMIM | 1 | | 281 | 450 | 605420 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | ALX4 CL E G H | 60529 | 613451 | Frontonasal dysplasia 2 | 613451 | C3150703 | OMIM | 1 | | 281 | 450 | 605420 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | ALX4 CL E G H | 60529 | 613451 | Frontonasal dysplasia 2 | 613451 | C3150703 | OMIM | 1 | | 281 | 450 | 605420 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | ALX4 CL E G H | 60529 | 609597 | Parietal foramina 2 | 609597 | C1865044 | OMIM | 1 | | 281 | 450 | 605420 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | ALX4 CL E G H | 60529 | 609597 | Parietal foramina 2 | 609597 | C1865044 | OMIM | 1 | | 281 | 450 | 605420 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | ALX4 CL E G H | 60529 | 609597 | Parietal foramina 2 | 609597 | C1865044 | OMIM | 1 | | 281 | 450 | 605420 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | ALX4 CL E G H | 60529 | 609597 | Parietal foramina 2 | 609597 | C1865044 | OMIM | 1 | | 281 | 450 | 605420 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | ALX4 CL E G H | 60529 | 609597 | Parietal foramina 2 | 609597 | C1865044 | OMIM | 1 | | 281 | 450 | 605420 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | ALX4 CL E G H | 60529 | 609597 | Parietal foramina 2 | 609597 | C1865044 | OMIM | 1 | | 281 | 450 | 605420 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | ALX4 CL E G H | 60529 | 609597 | Parietal foramina 2 | 609597 | C1865044 | OMIM | 1 | | 281 | 450 | 605420 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | ALX4 CL E G H | 60529 | 609597 | Parietal foramina 2 | 609597 | C1865044 | OMIM | 1 | | 281 | 450 | 605420 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | ALX4 CL E G H | 60529 | 609597 | Parietal foramina 2 | 609597 | C1865044 | OMIM | 1 | | 281 | 450 | 605420 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 394 | 29216 | 610911 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 394 | 29216 | 610911 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 394 | 29216 | 610911 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 394 | 29216 | 610911 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 394 | 29216 | 610911 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 394 | 29216 | 610911 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 394 | 29216 | 610911 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 394 | 29216 | 610911 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 394 | 29216 | 610911 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | B9D1 CL E G H | 27077 | 564 | | | | ORPHA | 1 | | 310 | 24123 | 614144 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | B9D1 CL E G H | 27077 | 564 | | | | ORPHA | 1 | | 310 | 24123 | 614144 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | B9D1 CL E G H | 27077 | 564 | | | | ORPHA | 1 | | 310 | 24123 | 614144 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | B9D1 CL E G H | 27077 | 564 | | | | ORPHA | 1 | | 310 | 24123 | 614144 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | B9D1 CL E G H | 27077 | 564 | | | | ORPHA | 1 | | 310 | 24123 | 614144 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | B9D1 CL E G H | 27077 | 564 | | | | ORPHA | 1 | | 310 | 24123 | 614144 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | B9D1 CL E G H | 27077 | 564 | | | | ORPHA | 1 | | 310 | 24123 | 614144 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | B9D1 CL E G H | 27077 | 564 | | | | ORPHA | 1 | | 310 | 24123 | 614144 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | B9D1 CL E G H | 27077 | 564 | | | | ORPHA | 1 | | 310 | 24123 | 614144 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | B9D2 CL E G H | 80776 | 564 | | | | ORPHA | 1 | | 73 | 28636 | 611951 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | B9D2 CL E G H | 80776 | 564 | | | | ORPHA | 1 | | 73 | 28636 | 611951 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | B9D2 CL E G H | 80776 | 564 | | | | ORPHA | 1 | | 73 | 28636 | 611951 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | B9D2 CL E G H | 80776 | 564 | | | | ORPHA | 1 | | 73 | 28636 | 611951 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | B9D2 CL E G H | 80776 | 564 | | | | ORPHA | 1 | | 73 | 28636 | 611951 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | B9D2 CL E G H | 80776 | 564 | | | | ORPHA | 1 | | 73 | 28636 | 611951 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | B9D2 CL E G H | 80776 | 564 | | | | ORPHA | 1 | | 73 | 28636 | 611951 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | B9D2 CL E G H | 80776 | 564 | | | | ORPHA | 1 | | 73 | 28636 | 611951 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | B9D2 CL E G H | 80776 | 564 | | | | ORPHA | 1 | | 73 | 28636 | 611951 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | CC2D2A CL E G H | 57545 | 564 | | | | ORPHA | 1 | | 1525 | 29253 | 612013 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | CC2D2A CL E G H | 57545 | 564 | | | | ORPHA | 1 | | 1525 | 29253 | 612013 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | CC2D2A CL E G H | 57545 | 564 | | | | ORPHA | 1 | | 1525 | 29253 | 612013 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | CC2D2A CL E G H | 57545 | 564 | | | | ORPHA | 1 | | 1525 | 29253 | 612013 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | CC2D2A CL E G H | 57545 | 564 | | | | ORPHA | 1 | | 1525 | 29253 | 612013 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | CC2D2A CL E G H | 57545 | 564 | | | | ORPHA | 1 | | 1525 | 29253 | 612013 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | CC2D2A CL E G H | 57545 | 564 | | | | ORPHA | 1 | | 1525 | 29253 | 612013 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | CC2D2A CL E G H | 57545 | 564 | | | | ORPHA | 1 | | 1525 | 29253 | 612013 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | CC2D2A CL E G H | 57545 | 564 | | | | ORPHA | 1 | | 1525 | 29253 | 612013 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | CEP120 CL E G H | 153241 | 616300 | Short-rib thoracic dysplasia 13 with or without polydactyly | 616300 | C4225378 | OMIM | 1 | | 433 | 26690 | 613446 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | CEP120 CL E G H | 153241 | 616300 | Short-rib thoracic dysplasia 13 with or without polydactyly | 616300 | C4225378 | OMIM | 1 | | 433 | 26690 | 613446 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | CEP120 CL E G H | 153241 | 616300 | Short-rib thoracic dysplasia 13 with or without polydactyly | 616300 | C4225378 | OMIM | 1 | | 433 | 26690 | 613446 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | CEP120 CL E G H | 153241 | 616300 | Short-rib thoracic dysplasia 13 with or without polydactyly | 616300 | C4225378 | OMIM | 1 | | 433 | 26690 | 613446 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | CEP120 CL E G H | 153241 | 616300 | Short-rib thoracic dysplasia 13 with or without polydactyly | 616300 | C4225378 | OMIM | 1 | | 433 | 26690 | 613446 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | CEP120 CL E G H | 153241 | 616300 | Short-rib thoracic dysplasia 13 with or without polydactyly | 616300 | C4225378 | OMIM | 1 | | 433 | 26690 | 613446 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | CEP120 CL E G H | 153241 | 616300 | Short-rib thoracic dysplasia 13 with or without polydactyly | 616300 | C4225378 | OMIM | 1 | | 433 | 26690 | 613446 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | CEP120 CL E G H | 153241 | 616300 | Short-rib thoracic dysplasia 13 with or without polydactyly | 616300 | C4225378 | OMIM | 1 | | 433 | 26690 | 613446 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | CEP120 CL E G H | 153241 | 616300 | Short-rib thoracic dysplasia 13 with or without polydactyly | 616300 | C4225378 | OMIM | 1 | | 433 | 26690 | 613446 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | CEP290 CL E G H | 80184 | 65 | | | | ORPHA | 1 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | CEP290 CL E G H | 80184 | 65 | | | | ORPHA | 1 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | CEP290 CL E G H | 80184 | 564 | | | | ORPHA | 1 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | CEP290 CL E G H | 80184 | 65 | | | | ORPHA | 1 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | CEP290 CL E G H | 80184 | 65 | | | | ORPHA | 1 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | CEP290 CL E G H | 80184 | 65 | | | | ORPHA | 1 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | CEP290 CL E G H | 80184 | 564 | | | | ORPHA | 1 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | CEP290 CL E G H | 80184 | 564 | | | | ORPHA | 1 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | CEP290 CL E G H | 80184 | 65 | | | | ORPHA | 1 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | CEP290 CL E G H | 80184 | 65 | | | | ORPHA | 1 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | CEP290 CL E G H | 80184 | 65 | | | | ORPHA | 1 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | CEP290 CL E G H | 80184 | 564 | | | | ORPHA | 1 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | CEP290 CL E G H | 80184 | 564 | | | | ORPHA | 1 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | CEP290 CL E G H | 80184 | 564 | | | | ORPHA | 1 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | CEP290 CL E G H | 80184 | 65 | | | | ORPHA | 1 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | CEP290 CL E G H | 80184 | 564 | | | | ORPHA | 1 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | CEP290 CL E G H | 80184 | 564 | | | | ORPHA | 1 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | CEP290 CL E G H | 80184 | 564 | | | | ORPHA | 1 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | CEP290 CL E G H | 80184 | 611134 | Meckel syndrome type 4 | 611134 | C1970161 | OMIM | 1 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | CEP290 CL E G H | 80184 | 611134 | Meckel syndrome type 4 | 611134 | C1970161 | OMIM | 1 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | CEP290 CL E G H | 80184 | 611134 | Meckel syndrome type 4 | 611134 | C1970161 | OMIM | 1 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | CEP290 CL E G H | 80184 | 611134 | Meckel syndrome type 4 | 611134 | C1970161 | OMIM | 1 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | CEP290 CL E G H | 80184 | 611134 | Meckel syndrome type 4 | 611134 | C1970161 | OMIM | 1 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | CEP290 CL E G H | 80184 | 611134 | Meckel syndrome type 4 | 611134 | C1970161 | OMIM | 1 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | CEP290 CL E G H | 80184 | 611134 | Meckel syndrome type 4 | 611134 | C1970161 | OMIM | 1 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | CEP290 CL E G H | 80184 | 611134 | Meckel syndrome type 4 | 611134 | C1970161 | OMIM | 1 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | CEP290 CL E G H | 80184 | 611134 | Meckel syndrome type 4 | 611134 | C1970161 | OMIM | 1 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | CEP55 CL E G H | 55165 | 564 | | | | ORPHA | 1 | | 89 | 1161 | 610000 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | CEP55 CL E G H | 55165 | 564 | | | | ORPHA | 1 | | 89 | 1161 | 610000 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | CEP55 CL E G H | 55165 | 564 | | | | ORPHA | 1 | | 89 | 1161 | 610000 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | CEP55 CL E G H | 55165 | 564 | | | | ORPHA | 1 | | 89 | 1161 | 610000 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | CEP55 CL E G H | 55165 | 564 | | | | ORPHA | 1 | | 89 | 1161 | 610000 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | CEP55 CL E G H | 55165 | 564 | | | | ORPHA | 1 | | 89 | 1161 | 610000 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | CEP55 CL E G H | 55165 | 564 | | | | ORPHA | 1 | | 89 | 1161 | 610000 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | CEP55 CL E G H | 55165 | 564 | | | | ORPHA | 1 | | 89 | 1161 | 610000 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | CEP55 CL E G H | 55165 | 564 | | | | ORPHA | 1 | | 89 | 1161 | 610000 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | CRB1 CL E G H | 23418 | 65 | | | | ORPHA | 1 | | 1633 | 2343 | 604210 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | CRB1 CL E G H | 23418 | 65 | | | | ORPHA | 1 | | 1633 | 2343 | 604210 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | CRB1 CL E G H | 23418 | 65 | | | | ORPHA | 1 | | 1633 | 2343 | 604210 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | CRB1 CL E G H | 23418 | 65 | | | | ORPHA | 1 | | 1633 | 2343 | 604210 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | CRB1 CL E G H | 23418 | 65 | | | | ORPHA | 1 | | 1633 | 2343 | 604210 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | CRB1 CL E G H | 23418 | 65 | | | | ORPHA | 1 | | 1633 | 2343 | 604210 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | CRB1 CL E G H | 23418 | 65 | | | | ORPHA | 1 | | 1633 | 2343 | 604210 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | CRB1 CL E G H | 23418 | 65 | | | | ORPHA | 1 | | 1633 | 2343 | 604210 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | CRB1 CL E G H | 23418 | 65 | | | | ORPHA | 1 | | 1633 | 2343 | 604210 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | CRX CL E G H | 1406 | 65 | | | | ORPHA | 1 | | 499 | 2383 | 602225 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | CRX CL E G H | 1406 | 65 | | | | ORPHA | 1 | | 499 | 2383 | 602225 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | CRX CL E G H | 1406 | 65 | | | | ORPHA | 1 | | 499 | 2383 | 602225 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | CRX CL E G H | 1406 | 65 | | | | ORPHA | 1 | | 499 | 2383 | 602225 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | CRX CL E G H | 1406 | 65 | | | | ORPHA | 1 | | 499 | 2383 | 602225 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | CRX CL E G H | 1406 | 65 | | | | ORPHA | 1 | | 499 | 2383 | 602225 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | CRX CL E G H | 1406 | 65 | | | | ORPHA | 1 | | 499 | 2383 | 602225 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | CRX CL E G H | 1406 | 65 | | | | ORPHA | 1 | | 499 | 2383 | 602225 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | CRX CL E G H | 1406 | 65 | | | | ORPHA | 1 | | 499 | 2383 | 602225 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | CSPP1 CL E G H | 79848 | 564 | | | | ORPHA | 1 | | 1074 | 26193 | 611654 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | CSPP1 CL E G H | 79848 | 564 | | | | ORPHA | 1 | | 1074 | 26193 | 611654 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | CSPP1 CL E G H | 79848 | 564 | | | | ORPHA | 1 | | 1074 | 26193 | 611654 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | CSPP1 CL E G H | 79848 | 564 | | | | ORPHA | 1 | | 1074 | 26193 | 611654 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | CSPP1 CL E G H | 79848 | 564 | | | | ORPHA | 1 | | 1074 | 26193 | 611654 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | CSPP1 CL E G H | 79848 | 564 | | | | ORPHA | 1 | | 1074 | 26193 | 611654 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | CSPP1 CL E G H | 79848 | 564 | | | | ORPHA | 1 | | 1074 | 26193 | 611654 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | CSPP1 CL E G H | 79848 | 564 | | | | ORPHA | 1 | | 1074 | 26193 | 611654 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | CSPP1 CL E G H | 79848 | 564 | | | | ORPHA | 1 | | 1074 | 26193 | 611654 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | FGFR1 CL E G H | 2260 | 2117 | Encephalopathy recurrent of childhood | | | ORPHA | 1 | | 936 | 3688 | 136350 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | FGFR1 CL E G H | 2260 | 2117 | Encephalopathy recurrent of childhood | | | ORPHA | 1 | | 936 | 3688 | 136350 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | FGFR1 CL E G H | 2260 | 2117 | Encephalopathy recurrent of childhood | | | ORPHA | 1 | | 936 | 3688 | 136350 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | FGFR1 CL E G H | 2260 | 2117 | Encephalopathy recurrent of childhood | | | ORPHA | 1 | | 936 | 3688 | 136350 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | FGFR1 CL E G H | 2260 | 2117 | Encephalopathy recurrent of childhood | | | ORPHA | 1 | | 936 | 3688 | 136350 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | FGFR1 CL E G H | 2260 | 2117 | Encephalopathy recurrent of childhood | | | ORPHA | 1 | | 936 | 3688 | 136350 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | FGFR1 CL E G H | 2260 | 2117 | Encephalopathy recurrent of childhood | | | ORPHA | 1 | | 936 | 3688 | 136350 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | FGFR1 CL E G H | 2260 | 2117 | Encephalopathy recurrent of childhood | | | ORPHA | 1 | | 936 | 3688 | 136350 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | FGFR1 CL E G H | 2260 | 2117 | Encephalopathy recurrent of childhood | | | ORPHA | 1 | | 936 | 3688 | 136350 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | FKTN CL E G H | 2218 | 253800 | Fukuyama congenital muscular dystrophy | 253800 | C0410174 | OMIM | 1 | | 914 | 3622 | 607440 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | FKTN CL E G H | 2218 | 253800 | Fukuyama congenital muscular dystrophy | 253800 | C0410174 | OMIM | 1 | | 914 | 3622 | 607440 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | FKTN CL E G H | 2218 | 253800 | Fukuyama congenital muscular dystrophy | 253800 | C0410174 | OMIM | 1 | | 914 | 3622 | 607440 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | FKTN CL E G H | 2218 | 253800 | Fukuyama congenital muscular dystrophy | 253800 | C0410174 | OMIM | 1 | | 914 | 3622 | 607440 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | FKTN CL E G H | 2218 | 253800 | Fukuyama congenital muscular dystrophy | 253800 | C0410174 | OMIM | 1 | | 914 | 3622 | 607440 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | FKTN CL E G H | 2218 | 253800 | Fukuyama congenital muscular dystrophy | 253800 | C0410174 | OMIM | 1 | | 914 | 3622 | 607440 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | FKTN CL E G H | 2218 | 253800 | Fukuyama congenital muscular dystrophy | 253800 | C0410174 | OMIM | 1 | | 914 | 3622 | 607440 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | FKTN CL E G H | 2218 | 253800 | Fukuyama congenital muscular dystrophy | 253800 | C0410174 | OMIM | 1 | | 914 | 3622 | 607440 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | FKTN CL E G H | 2218 | 253800 | Fukuyama congenital muscular dystrophy | 253800 | C0410174 | OMIM | 1 | | 914 | 3622 | 607440 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | FLNB CL E G H | 2317 | 108720 | Atelosteogenesis type 1 | 108720 | C0265283 | OMIM | 1 | | 1624 | 3755 | 603381 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | FLNB CL E G H | 2317 | 108720 | Atelosteogenesis type 1 | 108720 | C0265283 | OMIM | 1 | | 1624 | 3755 | 603381 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | FLNB CL E G H | 2317 | 108720 | Atelosteogenesis type 1 | 108720 | C0265283 | OMIM | 1 | | 1624 | 3755 | 603381 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | FLNB CL E G H | 2317 | 108720 | Atelosteogenesis type 1 | 108720 | C0265283 | OMIM | 1 | | 1624 | 3755 | 603381 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | FLNB CL E G H | 2317 | 108720 | Atelosteogenesis type 1 | 108720 | C0265283 | OMIM | 1 | | 1624 | 3755 | 603381 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | FLNB CL E G H | 2317 | 108720 | Atelosteogenesis type 1 | 108720 | C0265283 | OMIM | 1 | | 1624 | 3755 | 603381 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | FLNB CL E G H | 2317 | 108720 | Atelosteogenesis type 1 | 108720 | C0265283 | OMIM | 1 | | 1624 | 3755 | 603381 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | FLNB CL E G H | 2317 | 108720 | Atelosteogenesis type 1 | 108720 | C0265283 | OMIM | 1 | | 1624 | 3755 | 603381 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | FLNB CL E G H | 2317 | 108720 | Atelosteogenesis type 1 | 108720 | C0265283 | OMIM | 1 | | 1624 | 3755 | 603381 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | FRAS1 CL E G H | 80144 | 219000 | Cryptophthalmos syndrome | 219000 | C0265233 | OMIM | 1 | | 1287 | 19185 | 607830 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | FRAS1 CL E G H | 80144 | 219000 | Cryptophthalmos syndrome | 219000 | C0265233 | OMIM | 1 | | 1287 | 19185 | 607830 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | FRAS1 CL E G H | 80144 | 219000 | Cryptophthalmos syndrome | 219000 | C0265233 | OMIM | 1 | | 1287 | 19185 | 607830 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | FRAS1 CL E G H | 80144 | 219000 | Cryptophthalmos syndrome | 219000 | C0265233 | OMIM | 1 | | 1287 | 19185 | 607830 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | FRAS1 CL E G H | 80144 | 219000 | Cryptophthalmos syndrome | 219000 | C0265233 | OMIM | 1 | | 1287 | 19185 | 607830 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | FRAS1 CL E G H | 80144 | 219000 | Cryptophthalmos syndrome | 219000 | C0265233 | OMIM | 1 | | 1287 | 19185 | 607830 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | FRAS1 CL E G H | 80144 | 219000 | Cryptophthalmos syndrome | 219000 | C0265233 | OMIM | 1 | | 1287 | 19185 | 607830 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | FRAS1 CL E G H | 80144 | 219000 | Cryptophthalmos syndrome | 219000 | C0265233 | OMIM | 1 | | 1287 | 19185 | 607830 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | FRAS1 CL E G H | 80144 | 219000 | Cryptophthalmos syndrome | 219000 | C0265233 | OMIM | 1 | | 1287 | 19185 | 607830 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | GDF6 CL E G H | 392255 | 65 | | | | ORPHA | 1 | | 406 | 4221 | 601147 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | GDF6 CL E G H | 392255 | 65 | | | | ORPHA | 1 | | 406 | 4221 | 601147 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | GDF6 CL E G H | 392255 | 65 | | | | ORPHA | 1 | | 406 | 4221 | 601147 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | GDF6 CL E G H | 392255 | 65 | | | | ORPHA | 1 | | 406 | 4221 | 601147 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | GDF6 CL E G H | 392255 | 65 | | | | ORPHA | 1 | | 406 | 4221 | 601147 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | GDF6 CL E G H | 392255 | 65 | | | | ORPHA | 1 | | 406 | 4221 | 601147 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | GDF6 CL E G H | 392255 | 65 | | | | ORPHA | 1 | | 406 | 4221 | 601147 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | GDF6 CL E G H | 392255 | 65 | | | | ORPHA | 1 | | 406 | 4221 | 601147 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | GDF6 CL E G H | 392255 | 65 | | | | ORPHA | 1 | | 406 | 4221 | 601147 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | GUCY2D CL E G H | 3000 | 65 | | | | ORPHA | 1 | | 1048 | 4689 | 600179 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | GUCY2D CL E G H | 3000 | 65 | | | | ORPHA | 1 | | 1048 | 4689 | 600179 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | GUCY2D CL E G H | 3000 | 65 | | | | ORPHA | 1 | | 1048 | 4689 | 600179 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | GUCY2D CL E G H | 3000 | 65 | | | | ORPHA | 1 | | 1048 | 4689 | 600179 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | GUCY2D CL E G H | 3000 | 65 | | | | ORPHA | 1 | | 1048 | 4689 | 600179 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | GUCY2D CL E G H | 3000 | 65 | | | | ORPHA | 1 | | 1048 | 4689 | 600179 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | GUCY2D CL E G H | 3000 | 65 | | | | ORPHA | 1 | | 1048 | 4689 | 600179 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | GUCY2D CL E G H | 3000 | 65 | | | | ORPHA | 1 | | 1048 | 4689 | 600179 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | GUCY2D CL E G H | 3000 | 65 | | | | ORPHA | 1 | | 1048 | 4689 | 600179 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | IFT140 CL E G H | 9742 | 65 | | | | ORPHA | 1 | | 1686 | 29077 | 614620 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | IFT140 CL E G H | 9742 | 65 | | | | ORPHA | 1 | | 1686 | 29077 | 614620 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | IFT140 CL E G H | 9742 | 65 | | | | ORPHA | 1 | | 1686 | 29077 | 614620 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | IFT140 CL E G H | 9742 | 65 | | | | ORPHA | 1 | | 1686 | 29077 | 614620 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | IFT140 CL E G H | 9742 | 65 | | | | ORPHA | 1 | | 1686 | 29077 | 614620 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | IFT140 CL E G H | 9742 | 65 | | | | ORPHA | 1 | | 1686 | 29077 | 614620 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | IFT140 CL E G H | 9742 | 65 | | | | ORPHA | 1 | | 1686 | 29077 | 614620 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | IFT140 CL E G H | 9742 | 65 | | | | ORPHA | 1 | | 1686 | 29077 | 614620 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | IFT140 CL E G H | 9742 | 65 | | | | ORPHA | 1 | | 1686 | 29077 | 614620 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | IMPDH1 CL E G H | 3614 | 65 | | | | ORPHA | 1 | | 542 | 6052 | 146690 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | IMPDH1 CL E G H | 3614 | 65 | | | | ORPHA | 1 | | 542 | 6052 | 146690 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | IMPDH1 CL E G H | 3614 | 65 | | | | ORPHA | 1 | | 542 | 6052 | 146690 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | IMPDH1 CL E G H | 3614 | 65 | | | | ORPHA | 1 | | 542 | 6052 | 146690 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | IMPDH1 CL E G H | 3614 | 65 | | | | ORPHA | 1 | | 542 | 6052 | 146690 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | IMPDH1 CL E G H | 3614 | 65 | | | | ORPHA | 1 | | 542 | 6052 | 146690 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | IMPDH1 CL E G H | 3614 | 65 | | | | ORPHA | 1 | | 542 | 6052 | 146690 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | IMPDH1 CL E G H | 3614 | 65 | | | | ORPHA | 1 | | 542 | 6052 | 146690 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | IMPDH1 CL E G H | 3614 | 65 | | | | ORPHA | 1 | | 542 | 6052 | 146690 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | IQCB1 CL E G H | 9657 | 65 | | | | ORPHA | 1 | | 496 | 28949 | 609237 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | IQCB1 CL E G H | 9657 | 65 | | | | ORPHA | 1 | | 496 | 28949 | 609237 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | IQCB1 CL E G H | 9657 | 65 | | | | ORPHA | 1 | | 496 | 28949 | 609237 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | IQCB1 CL E G H | 9657 | 65 | | | | ORPHA | 1 | | 496 | 28949 | 609237 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | IQCB1 CL E G H | 9657 | 65 | | | | ORPHA | 1 | | 496 | 28949 | 609237 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | IQCB1 CL E G H | 9657 | 65 | | | | ORPHA | 1 | | 496 | 28949 | 609237 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | IQCB1 CL E G H | 9657 | 65 | | | | ORPHA | 1 | | 496 | 28949 | 609237 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | IQCB1 CL E G H | 9657 | 65 | | | | ORPHA | 1 | | 496 | 28949 | 609237 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | IQCB1 CL E G H | 9657 | 65 | | | | ORPHA | 1 | | 496 | 28949 | 609237 |
HP:0002084 | HP:0011817 | Basal encephalocele | 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:0002084 | HP:0011816 | Parietal encephalocele | 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:0002084 | HP:0007035 | Anterior encephalocele | 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:0002084 | HP:0007330 | Frontal encephalocele | 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:0002084 | HP:0007115 | Orbital encephalocele | 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:0002084 | HP:0006992 | Anterior basal encephalocele | 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:0002084 | HP:0004423 | Cranium bifidum occultum | 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:0002084 | HP:0002085 | Occipital encephalocele | 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:0002084 | HP:0006888 | Meningoencephalocele | 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:0002084 | HP:0011816 | Parietal encephalocele | 1 | KCNJ13 CL E G H | 3769 | 65 | | | | ORPHA | 1 | | 235 | 6259 | 603208 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | KCNJ13 CL E G H | 3769 | 65 | | | | ORPHA | 1 | | 235 | 6259 | 603208 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | KCNJ13 CL E G H | 3769 | 65 | | | | ORPHA | 1 | | 235 | 6259 | 603208 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | KCNJ13 CL E G H | 3769 | 65 | | | | ORPHA | 1 | | 235 | 6259 | 603208 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | KCNJ13 CL E G H | 3769 | 65 | | | | ORPHA | 1 | | 235 | 6259 | 603208 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | KCNJ13 CL E G H | 3769 | 65 | | | | ORPHA | 1 | | 235 | 6259 | 603208 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | KCNJ13 CL E G H | 3769 | 65 | | | | ORPHA | 1 | | 235 | 6259 | 603208 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | KCNJ13 CL E G H | 3769 | 65 | | | | ORPHA | 1 | | 235 | 6259 | 603208 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | KCNJ13 CL E G H | 3769 | 65 | | | | ORPHA | 1 | | 235 | 6259 | 603208 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | LCA5 CL E G H | 167691 | 65 | | | | ORPHA | 1 | | 686 | 31923 | 611408 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | LCA5 CL E G H | 167691 | 65 | | | | ORPHA | 1 | | 686 | 31923 | 611408 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | LCA5 CL E G H | 167691 | 65 | | | | ORPHA | 1 | | 686 | 31923 | 611408 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | LCA5 CL E G H | 167691 | 65 | | | | ORPHA | 1 | | 686 | 31923 | 611408 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | LCA5 CL E G H | 167691 | 65 | | | | ORPHA | 1 | | 686 | 31923 | 611408 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | LCA5 CL E G H | 167691 | 65 | | | | ORPHA | 1 | | 686 | 31923 | 611408 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | LCA5 CL E G H | 167691 | 65 | | | | ORPHA | 1 | | 686 | 31923 | 611408 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | LCA5 CL E G H | 167691 | 65 | | | | ORPHA | 1 | | 686 | 31923 | 611408 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | LCA5 CL E G H | 167691 | 65 | | | | ORPHA | 1 | | 686 | 31923 | 611408 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | LRAT CL E G H | 9227 | 65 | | | | ORPHA | 1 | | 242 | 6685 | 604863 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | LRAT CL E G H | 9227 | 65 | | | | ORPHA | 1 | | 242 | 6685 | 604863 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | LRAT CL E G H | 9227 | 65 | | | | ORPHA | 1 | | 242 | 6685 | 604863 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | LRAT CL E G H | 9227 | 65 | | | | ORPHA | 1 | | 242 | 6685 | 604863 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | LRAT CL E G H | 9227 | 65 | | | | ORPHA | 1 | | 242 | 6685 | 604863 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | LRAT CL E G H | 9227 | 65 | | | | ORPHA | 1 | | 242 | 6685 | 604863 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | LRAT CL E G H | 9227 | 65 | | | | ORPHA | 1 | | 242 | 6685 | 604863 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | LRAT CL E G H | 9227 | 65 | | | | ORPHA | 1 | | 242 | 6685 | 604863 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | LRAT CL E G H | 9227 | 65 | | | | ORPHA | 1 | | 242 | 6685 | 604863 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | MKS1 CL E G H | 54903 | 564 | | | | ORPHA | 1 | | 839 | 7121 | 609883 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | MKS1 CL E G H | 54903 | 564 | | | | ORPHA | 1 | | 839 | 7121 | 609883 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | MKS1 CL E G H | 54903 | 564 | | | | ORPHA | 1 | | 839 | 7121 | 609883 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | MKS1 CL E G H | 54903 | 564 | | | | ORPHA | 1 | | 839 | 7121 | 609883 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | MKS1 CL E G H | 54903 | 564 | | | | ORPHA | 1 | | 839 | 7121 | 609883 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | MKS1 CL E G H | 54903 | 564 | | | | ORPHA | 1 | | 839 | 7121 | 609883 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | MKS1 CL E G H | 54903 | 564 | | | | ORPHA | 1 | | 839 | 7121 | 609883 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | MKS1 CL E G H | 54903 | 564 | | | | ORPHA | 1 | | 839 | 7121 | 609883 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | MKS1 CL E G H | 54903 | 564 | | | | ORPHA | 1 | | 839 | 7121 | 609883 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | MSX2 CL E G H | 4488 | 168500 | Parietal foramina 1 | 168500 | C1868599 | OMIM | 1 | | 206 | 7392 | 123101 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | MSX2 CL E G H | 4488 | 168500 | Parietal foramina 1 | 168500 | C1868599 | OMIM | 1 | | 206 | 7392 | 123101 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | MSX2 CL E G H | 4488 | 168500 | Parietal foramina 1 | 168500 | C1868599 | OMIM | 1 | | 206 | 7392 | 123101 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | MSX2 CL E G H | 4488 | 168500 | Parietal foramina 1 | 168500 | C1868599 | OMIM | 1 | | 206 | 7392 | 123101 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | MSX2 CL E G H | 4488 | 168500 | Parietal foramina 1 | 168500 | C1868599 | OMIM | 1 | | 206 | 7392 | 123101 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | MSX2 CL E G H | 4488 | 168500 | Parietal foramina 1 | 168500 | C1868599 | OMIM | 1 | | 206 | 7392 | 123101 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | MSX2 CL E G H | 4488 | 168500 | Parietal foramina 1 | 168500 | C1868599 | OMIM | 1 | | 206 | 7392 | 123101 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | MSX2 CL E G H | 4488 | 168500 | Parietal foramina 1 | 168500 | C1868599 | OMIM | 1 | | 206 | 7392 | 123101 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | MSX2 CL E G H | 4488 | 168500 | Parietal foramina 1 | 168500 | C1868599 | OMIM | 1 | | 206 | 7392 | 123101 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | NMNAT1 CL E G H | 64802 | 65 | | | | ORPHA | 1 | | 226 | 17877 | 608700 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | NMNAT1 CL E G H | 64802 | 65 | | | | ORPHA | 1 | | 226 | 17877 | 608700 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | NMNAT1 CL E G H | 64802 | 65 | | | | ORPHA | 1 | | 226 | 17877 | 608700 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | NMNAT1 CL E G H | 64802 | 65 | | | | ORPHA | 1 | | 226 | 17877 | 608700 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | NMNAT1 CL E G H | 64802 | 65 | | | | ORPHA | 1 | | 226 | 17877 | 608700 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | NMNAT1 CL E G H | 64802 | 65 | | | | ORPHA | 1 | | 226 | 17877 | 608700 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | NMNAT1 CL E G H | 64802 | 65 | | | | ORPHA | 1 | | 226 | 17877 | 608700 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | NMNAT1 CL E G H | 64802 | 65 | | | | ORPHA | 1 | | 226 | 17877 | 608700 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | NMNAT1 CL E G H | 64802 | 65 | | | | ORPHA | 1 | | 226 | 17877 | 608700 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | PCYT1A CL E G H | 5130 | 65 | | | | ORPHA | 1 | | 358 | 8754 | 123695 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | PCYT1A CL E G H | 5130 | 65 | | | | ORPHA | 1 | | 358 | 8754 | 123695 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | PCYT1A CL E G H | 5130 | 65 | | | | ORPHA | 1 | | 358 | 8754 | 123695 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | PCYT1A CL E G H | 5130 | 65 | | | | ORPHA | 1 | | 358 | 8754 | 123695 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | PCYT1A CL E G H | 5130 | 65 | | | | ORPHA | 1 | | 358 | 8754 | 123695 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | PCYT1A CL E G H | 5130 | 65 | | | | ORPHA | 1 | | 358 | 8754 | 123695 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | PCYT1A CL E G H | 5130 | 65 | | | | ORPHA | 1 | | 358 | 8754 | 123695 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | PCYT1A CL E G H | 5130 | 65 | | | | ORPHA | 1 | | 358 | 8754 | 123695 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | PCYT1A CL E G H | 5130 | 65 | | | | ORPHA | 1 | | 358 | 8754 | 123695 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | RD3 CL E G H | 343035 | 65 | | | | ORPHA | 1 | | 256 | 19689 | 180040 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | RD3 CL E G H | 343035 | 65 | | | | ORPHA | 1 | | 256 | 19689 | 180040 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | RD3 CL E G H | 343035 | 65 | | | | ORPHA | 1 | | 256 | 19689 | 180040 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | RD3 CL E G H | 343035 | 65 | | | | ORPHA | 1 | | 256 | 19689 | 180040 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | RD3 CL E G H | 343035 | 65 | | | | ORPHA | 1 | | 256 | 19689 | 180040 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | RD3 CL E G H | 343035 | 65 | | | | ORPHA | 1 | | 256 | 19689 | 180040 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | RD3 CL E G H | 343035 | 65 | | | | ORPHA | 1 | | 256 | 19689 | 180040 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | RD3 CL E G H | 343035 | 65 | | | | ORPHA | 1 | | 256 | 19689 | 180040 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | RD3 CL E G H | 343035 | 65 | | | | ORPHA | 1 | | 256 | 19689 | 180040 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | RDH12 CL E G H | 145226 | 65 | | | | ORPHA | 1 | | 495 | 19977 | 608830 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | RDH12 CL E G H | 145226 | 65 | | | | ORPHA | 1 | | 495 | 19977 | 608830 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | RDH12 CL E G H | 145226 | 65 | | | | ORPHA | 1 | | 495 | 19977 | 608830 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | RDH12 CL E G H | 145226 | 65 | | | | ORPHA | 1 | | 495 | 19977 | 608830 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | RDH12 CL E G H | 145226 | 65 | | | | ORPHA | 1 | | 495 | 19977 | 608830 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | RDH12 CL E G H | 145226 | 65 | | | | ORPHA | 1 | | 495 | 19977 | 608830 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | RDH12 CL E G H | 145226 | 65 | | | | ORPHA | 1 | | 495 | 19977 | 608830 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | RDH12 CL E G H | 145226 | 65 | | | | ORPHA | 1 | | 495 | 19977 | 608830 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | RDH12 CL E G H | 145226 | 65 | | | | ORPHA | 1 | | 495 | 19977 | 608830 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | RPE65 CL E G H | 6121 | 65 | | | | ORPHA | 1 | | 783 | 10294 | 180069 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | RPE65 CL E G H | 6121 | 65 | | | | ORPHA | 1 | | 783 | 10294 | 180069 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | RPE65 CL E G H | 6121 | 65 | | | | ORPHA | 1 | | 783 | 10294 | 180069 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | RPE65 CL E G H | 6121 | 65 | | | | ORPHA | 1 | | 783 | 10294 | 180069 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | RPE65 CL E G H | 6121 | 65 | | | | ORPHA | 1 | | 783 | 10294 | 180069 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | RPE65 CL E G H | 6121 | 65 | | | | ORPHA | 1 | | 783 | 10294 | 180069 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | RPE65 CL E G H | 6121 | 65 | | | | ORPHA | 1 | | 783 | 10294 | 180069 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | RPE65 CL E G H | 6121 | 65 | | | | ORPHA | 1 | | 783 | 10294 | 180069 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | RPE65 CL E G H | 6121 | 65 | | | | ORPHA | 1 | | 783 | 10294 | 180069 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | RPGRIP1 CL E G H | 57096 | 65 | | | | ORPHA | 1 | | 1010 | 13436 | 605446 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | RPGRIP1 CL E G H | 57096 | 65 | | | | ORPHA | 1 | | 1010 | 13436 | 605446 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | RPGRIP1 CL E G H | 57096 | 564 | | | | ORPHA | 1 | | 1010 | 13436 | 605446 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | RPGRIP1 CL E G H | 57096 | 65 | | | | ORPHA | 1 | | 1010 | 13436 | 605446 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | RPGRIP1 CL E G H | 57096 | 65 | | | | ORPHA | 1 | | 1010 | 13436 | 605446 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | RPGRIP1 CL E G H | 57096 | 65 | | | | ORPHA | 1 | | 1010 | 13436 | 605446 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | RPGRIP1 CL E G H | 57096 | 564 | | | | ORPHA | 1 | | 1010 | 13436 | 605446 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | RPGRIP1 CL E G H | 57096 | 564 | | | | ORPHA | 1 | | 1010 | 13436 | 605446 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | RPGRIP1 CL E G H | 57096 | 65 | | | | ORPHA | 1 | | 1010 | 13436 | 605446 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | RPGRIP1 CL E G H | 57096 | 65 | | | | ORPHA | 1 | | 1010 | 13436 | 605446 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | RPGRIP1 CL E G H | 57096 | 65 | | | | ORPHA | 1 | | 1010 | 13436 | 605446 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | RPGRIP1 CL E G H | 57096 | 564 | | | | ORPHA | 1 | | 1010 | 13436 | 605446 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | RPGRIP1 CL E G H | 57096 | 564 | | | | ORPHA | 1 | | 1010 | 13436 | 605446 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | RPGRIP1 CL E G H | 57096 | 564 | | | | ORPHA | 1 | | 1010 | 13436 | 605446 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | RPGRIP1 CL E G H | 57096 | 65 | | | | ORPHA | 1 | | 1010 | 13436 | 605446 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | RPGRIP1 CL E G H | 57096 | 564 | | | | ORPHA | 1 | | 1010 | 13436 | 605446 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | RPGRIP1 CL E G H | 57096 | 564 | | | | ORPHA | 1 | | 1010 | 13436 | 605446 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | RPGRIP1 CL E G H | 57096 | 564 | | | | ORPHA | 1 | | 1010 | 13436 | 605446 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | RPGRIP1L CL E G H | 23322 | 564 | | | | ORPHA | 1 | | 1494 | 29168 | 610937 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | RPGRIP1L CL E G H | 23322 | 564 | | | | ORPHA | 1 | | 1494 | 29168 | 610937 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | RPGRIP1L CL E G H | 23322 | 564 | | | | ORPHA | 1 | | 1494 | 29168 | 610937 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | RPGRIP1L CL E G H | 23322 | 564 | | | | ORPHA | 1 | | 1494 | 29168 | 610937 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | RPGRIP1L CL E G H | 23322 | 564 | | | | ORPHA | 1 | | 1494 | 29168 | 610937 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | RPGRIP1L CL E G H | 23322 | 564 | | | | ORPHA | 1 | | 1494 | 29168 | 610937 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | RPGRIP1L CL E G H | 23322 | 564 | | | | ORPHA | 1 | | 1494 | 29168 | 610937 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | RPGRIP1L CL E G H | 23322 | 564 | | | | ORPHA | 1 | | 1494 | 29168 | 610937 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | RPGRIP1L CL E G H | 23322 | 564 | | | | ORPHA | 1 | | 1494 | 29168 | 610937 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | RPGRIP1L CL E G H | 23322 | 611560 | Joubert syndrome 7 | 611560 | C1969053 | OMIM | 1 | | 1494 | 29168 | 610937 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | RPGRIP1L CL E G H | 23322 | 611560 | Joubert syndrome 7 | 611560 | C1969053 | OMIM | 1 | | 1494 | 29168 | 610937 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | RPGRIP1L CL E G H | 23322 | 611560 | Joubert syndrome 7 | 611560 | C1969053 | OMIM | 1 | | 1494 | 29168 | 610937 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | RPGRIP1L CL E G H | 23322 | 611560 | Joubert syndrome 7 | 611560 | C1969053 | OMIM | 1 | | 1494 | 29168 | 610937 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | RPGRIP1L CL E G H | 23322 | 611560 | Joubert syndrome 7 | 611560 | C1969053 | OMIM | 1 | | 1494 | 29168 | 610937 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | RPGRIP1L CL E G H | 23322 | 611560 | Joubert syndrome 7 | 611560 | C1969053 | OMIM | 1 | | 1494 | 29168 | 610937 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | RPGRIP1L CL E G H | 23322 | 611560 | Joubert syndrome 7 | 611560 | C1969053 | OMIM | 1 | | 1494 | 29168 | 610937 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | RPGRIP1L CL E G H | 23322 | 611560 | Joubert syndrome 7 | 611560 | C1969053 | OMIM | 1 | | 1494 | 29168 | 610937 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | RPGRIP1L CL E G H | 23322 | 611560 | Joubert syndrome 7 | 611560 | C1969053 | OMIM | 1 | | 1494 | 29168 | 610937 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | SPATA7 CL E G H | 55812 | 65 | | | | ORPHA | 1 | | 432 | 20423 | 609868 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | SPATA7 CL E G H | 55812 | 65 | | | | ORPHA | 1 | | 432 | 20423 | 609868 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | SPATA7 CL E G H | 55812 | 65 | | | | ORPHA | 1 | | 432 | 20423 | 609868 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | SPATA7 CL E G H | 55812 | 65 | | | | ORPHA | 1 | | 432 | 20423 | 609868 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | SPATA7 CL E G H | 55812 | 65 | | | | ORPHA | 1 | | 432 | 20423 | 609868 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | SPATA7 CL E G H | 55812 | 65 | | | | ORPHA | 1 | | 432 | 20423 | 609868 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | SPATA7 CL E G H | 55812 | 65 | | | | ORPHA | 1 | | 432 | 20423 | 609868 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | SPATA7 CL E G H | 55812 | 65 | | | | ORPHA | 1 | | 432 | 20423 | 609868 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | SPATA7 CL E G H | 55812 | 65 | | | | ORPHA | 1 | | 432 | 20423 | 609868 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | TCTN2 CL E G H | 79867 | 564 | | | | ORPHA | 1 | | 622 | 25774 | 613846 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | TCTN2 CL E G H | 79867 | 564 | | | | ORPHA | 1 | | 622 | 25774 | 613846 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | TCTN2 CL E G H | 79867 | 564 | | | | ORPHA | 1 | | 622 | 25774 | 613846 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | TCTN2 CL E G H | 79867 | 564 | | | | ORPHA | 1 | | 622 | 25774 | 613846 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | TCTN2 CL E G H | 79867 | 564 | | | | ORPHA | 1 | | 622 | 25774 | 613846 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | TCTN2 CL E G H | 79867 | 564 | | | | ORPHA | 1 | | 622 | 25774 | 613846 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | TCTN2 CL E G H | 79867 | 564 | | | | ORPHA | 1 | | 622 | 25774 | 613846 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | TCTN2 CL E G H | 79867 | 564 | | | | ORPHA | 1 | | 622 | 25774 | 613846 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | TCTN2 CL E G H | 79867 | 564 | | | | ORPHA | 1 | | 622 | 25774 | 613846 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | TCTN2 CL E G H | 79867 | 613885 | Meckel syndrome type 8 | 613885 | C3836857 | OMIM | 1 | | 622 | 25774 | 613846 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | TCTN2 CL E G H | 79867 | 613885 | Meckel syndrome type 8 | 613885 | C3836857 | OMIM | 1 | | 622 | 25774 | 613846 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | TCTN2 CL E G H | 79867 | 613885 | Meckel syndrome type 8 | 613885 | C3836857 | OMIM | 1 | | 622 | 25774 | 613846 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | TCTN2 CL E G H | 79867 | 613885 | Meckel syndrome type 8 | 613885 | C3836857 | OMIM | 1 | | 622 | 25774 | 613846 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | TCTN2 CL E G H | 79867 | 613885 | Meckel syndrome type 8 | 613885 | C3836857 | OMIM | 1 | | 622 | 25774 | 613846 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | TCTN2 CL E G H | 79867 | 613885 | Meckel syndrome type 8 | 613885 | C3836857 | OMIM | 1 | | 622 | 25774 | 613846 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | TCTN2 CL E G H | 79867 | 613885 | Meckel syndrome type 8 | 613885 | C3836857 | OMIM | 1 | | 622 | 25774 | 613846 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | TCTN2 CL E G H | 79867 | 613885 | Meckel syndrome type 8 | 613885 | C3836857 | OMIM | 1 | | 622 | 25774 | 613846 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | TCTN2 CL E G H | 79867 | 613885 | Meckel syndrome type 8 | 613885 | C3836857 | OMIM | 1 | | 622 | 25774 | 613846 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | TMEM107 CL E G H | 84314 | 564 | | | | ORPHA | 1 | | 299 | 28128 | 616183 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | TMEM107 CL E G H | 84314 | 564 | | | | ORPHA | 1 | | 299 | 28128 | 616183 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | TMEM107 CL E G H | 84314 | 564 | | | | ORPHA | 1 | | 299 | 28128 | 616183 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | TMEM107 CL E G H | 84314 | 564 | | | | ORPHA | 1 | | 299 | 28128 | 616183 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | TMEM107 CL E G H | 84314 | 564 | | | | ORPHA | 1 | | 299 | 28128 | 616183 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | TMEM107 CL E G H | 84314 | 564 | | | | ORPHA | 1 | | 299 | 28128 | 616183 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | TMEM107 CL E G H | 84314 | 564 | | | | ORPHA | 1 | | 299 | 28128 | 616183 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | TMEM107 CL E G H | 84314 | 564 | | | | ORPHA | 1 | | 299 | 28128 | 616183 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | TMEM107 CL E G H | 84314 | 564 | | | | ORPHA | 1 | | 299 | 28128 | 616183 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | TMEM216 CL E G H | 51259 | 564 | | | | ORPHA | 1 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | TMEM216 CL E G H | 51259 | 564 | | | | ORPHA | 1 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | TMEM216 CL E G H | 51259 | 564 | | | | ORPHA | 1 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | TMEM216 CL E G H | 51259 | 564 | | | | ORPHA | 1 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | TMEM216 CL E G H | 51259 | 564 | | | | ORPHA | 1 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | TMEM216 CL E G H | 51259 | 564 | | | | ORPHA | 1 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | TMEM216 CL E G H | 51259 | 564 | | | | ORPHA | 1 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | TMEM216 CL E G H | 51259 | 564 | | | | ORPHA | 1 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | TMEM216 CL E G H | 51259 | 564 | | | | ORPHA | 1 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | TMEM216 CL E G H | 51259 | 603194 | Meckel syndrome type 2 | 603194 | C1864148 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | TMEM216 CL E G H | 51259 | 603194 | Meckel syndrome type 2 | 603194 | C1864148 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | TMEM216 CL E G H | 51259 | 603194 | Meckel syndrome type 2 | 603194 | C1864148 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | TMEM216 CL E G H | 51259 | 603194 | Meckel syndrome type 2 | 603194 | C1864148 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | TMEM216 CL E G H | 51259 | 603194 | Meckel syndrome type 2 | 603194 | C1864148 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | TMEM216 CL E G H | 51259 | 603194 | Meckel syndrome type 2 | 603194 | C1864148 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | TMEM216 CL E G H | 51259 | 603194 | Meckel syndrome type 2 | 603194 | C1864148 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | TMEM216 CL E G H | 51259 | 603194 | Meckel syndrome type 2 | 603194 | C1864148 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | TMEM216 CL E G H | 51259 | 603194 | Meckel syndrome type 2 | 603194 | C1864148 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | TMEM231 CL E G H | 79583 | 564 | | | | ORPHA | 1 | | 463 | 37234 | 614949 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | TMEM231 CL E G H | 79583 | 564 | | | | ORPHA | 1 | | 463 | 37234 | 614949 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | TMEM231 CL E G H | 79583 | 564 | | | | ORPHA | 1 | | 463 | 37234 | 614949 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | TMEM231 CL E G H | 79583 | 564 | | | | ORPHA | 1 | | 463 | 37234 | 614949 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | TMEM231 CL E G H | 79583 | 564 | | | | ORPHA | 1 | | 463 | 37234 | 614949 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | TMEM231 CL E G H | 79583 | 564 | | | | ORPHA | 1 | | 463 | 37234 | 614949 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | TMEM231 CL E G H | 79583 | 564 | | | | ORPHA | 1 | | 463 | 37234 | 614949 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | TMEM231 CL E G H | 79583 | 564 | | | | ORPHA | 1 | | 463 | 37234 | 614949 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | TMEM231 CL E G H | 79583 | 564 | | | | ORPHA | 1 | | 463 | 37234 | 614949 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | TMEM237 CL E G H | 65062 | 614424 | Joubert syndrome 14 | 614424 | C3280766 | OMIM | 1 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | TMEM237 CL E G H | 65062 | 614424 | Joubert syndrome 14 | 614424 | C3280766 | OMIM | 1 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | TMEM237 CL E G H | 65062 | 614424 | Joubert syndrome 14 | 614424 | C3280766 | OMIM | 1 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | TMEM237 CL E G H | 65062 | 614424 | Joubert syndrome 14 | 614424 | C3280766 | OMIM | 1 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | TMEM237 CL E G H | 65062 | 614424 | Joubert syndrome 14 | 614424 | C3280766 | OMIM | 1 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | TMEM237 CL E G H | 65062 | 614424 | Joubert syndrome 14 | 614424 | C3280766 | OMIM | 1 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | TMEM237 CL E G H | 65062 | 614424 | Joubert syndrome 14 | 614424 | C3280766 | OMIM | 1 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | TMEM237 CL E G H | 65062 | 614424 | Joubert syndrome 14 | 614424 | C3280766 | OMIM | 1 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | TMEM237 CL E G H | 65062 | 614424 | Joubert syndrome 14 | 614424 | C3280766 | OMIM | 1 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | TMEM67 CL E G H | 91147 | 564 | | | | ORPHA | 1 | | 928 | 28396 | 609884 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | TMEM67 CL E G H | 91147 | 564 | | | | ORPHA | 1 | | 928 | 28396 | 609884 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | TMEM67 CL E G H | 91147 | 564 | | | | ORPHA | 1 | | 928 | 28396 | 609884 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | TMEM67 CL E G H | 91147 | 564 | | | | ORPHA | 1 | | 928 | 28396 | 609884 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | TMEM67 CL E G H | 91147 | 564 | | | | ORPHA | 1 | | 928 | 28396 | 609884 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | TMEM67 CL E G H | 91147 | 564 | | | | ORPHA | 1 | | 928 | 28396 | 609884 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | TMEM67 CL E G H | 91147 | 564 | | | | ORPHA | 1 | | 928 | 28396 | 609884 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | TMEM67 CL E G H | 91147 | 564 | | | | ORPHA | 1 | | 928 | 28396 | 609884 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | TMEM67 CL E G H | 91147 | 564 | | | | ORPHA | 1 | | 928 | 28396 | 609884 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | TMEM67 CL E G H | 91147 | 607361 | Meckel syndrome type 3 | 607361 | C1846357 | OMIM | 1 | | 928 | 28396 | 609884 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | TMEM67 CL E G H | 91147 | 607361 | Meckel syndrome type 3 | 607361 | C1846357 | OMIM | 1 | | 928 | 28396 | 609884 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | TMEM67 CL E G H | 91147 | 607361 | Meckel syndrome type 3 | 607361 | C1846357 | OMIM | 1 | | 928 | 28396 | 609884 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | TMEM67 CL E G H | 91147 | 607361 | Meckel syndrome type 3 | 607361 | C1846357 | OMIM | 1 | | 928 | 28396 | 609884 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | TMEM67 CL E G H | 91147 | 607361 | Meckel syndrome type 3 | 607361 | C1846357 | OMIM | 1 | | 928 | 28396 | 609884 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | TMEM67 CL E G H | 91147 | 607361 | Meckel syndrome type 3 | 607361 | C1846357 | OMIM | 1 | | 928 | 28396 | 609884 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | TMEM67 CL E G H | 91147 | 607361 | Meckel syndrome type 3 | 607361 | C1846357 | OMIM | 1 | | 928 | 28396 | 609884 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | TMEM67 CL E G H | 91147 | 607361 | Meckel syndrome type 3 | 607361 | C1846357 | OMIM | 1 | | 928 | 28396 | 609884 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | TMEM67 CL E G H | 91147 | 607361 | Meckel syndrome type 3 | 607361 | C1846357 | OMIM | 1 | | 928 | 28396 | 609884 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | TULP1 CL E G H | 7287 | 65 | | | | ORPHA | 1 | | 587 | 12423 | 602280 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | TULP1 CL E G H | 7287 | 65 | | | | ORPHA | 1 | | 587 | 12423 | 602280 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | TULP1 CL E G H | 7287 | 65 | | | | ORPHA | 1 | | 587 | 12423 | 602280 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | TULP1 CL E G H | 7287 | 65 | | | | ORPHA | 1 | | 587 | 12423 | 602280 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | TULP1 CL E G H | 7287 | 65 | | | | ORPHA | 1 | | 587 | 12423 | 602280 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | TULP1 CL E G H | 7287 | 65 | | | | ORPHA | 1 | | 587 | 12423 | 602280 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | TULP1 CL E G H | 7287 | 65 | | | | ORPHA | 1 | | 587 | 12423 | 602280 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | TULP1 CL E G H | 7287 | 65 | | | | ORPHA | 1 | | 587 | 12423 | 602280 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | TULP1 CL E G H | 7287 | 65 | | | | ORPHA | 1 | | 587 | 12423 | 602280 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | WDPCP CL E G H | 51057 | 564 | | | | ORPHA | 1 | | 587 | 28027 | 613580 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | WDPCP CL E G H | 51057 | 564 | | | | ORPHA | 1 | | 587 | 28027 | 613580 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | WDPCP CL E G H | 51057 | 564 | | | | ORPHA | 1 | | 587 | 28027 | 613580 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | WDPCP CL E G H | 51057 | 564 | | | | ORPHA | 1 | | 587 | 28027 | 613580 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | WDPCP CL E G H | 51057 | 564 | | | | ORPHA | 1 | | 587 | 28027 | 613580 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | WDPCP CL E G H | 51057 | 564 | | | | ORPHA | 1 | | 587 | 28027 | 613580 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | WDPCP CL E G H | 51057 | 564 | | | | ORPHA | 1 | | 587 | 28027 | 613580 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | WDPCP CL E G H | 51057 | 564 | | | | ORPHA | 1 | | 587 | 28027 | 613580 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | WDPCP CL E G H | 51057 | 564 | | | | ORPHA | 1 | | 587 | 28027 | 613580 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | ZSWIM6 CL E G H | 57688 | 603671 | Acromelic frontonasal dysostosis | 603671 | C1863616 | OMIM | 1 | | 659 | 29316 | 615951 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | ZSWIM6 CL E G H | 57688 | 603671 | Acromelic frontonasal dysostosis | 603671 | C1863616 | OMIM | 1 | | 659 | 29316 | 615951 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | ZSWIM6 CL E G H | 57688 | 603671 | Acromelic frontonasal dysostosis | 603671 | C1863616 | OMIM | 1 | | 659 | 29316 | 615951 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | ZSWIM6 CL E G H | 57688 | 603671 | Acromelic frontonasal dysostosis | 603671 | C1863616 | OMIM | 1 | | 659 | 29316 | 615951 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | ZSWIM6 CL E G H | 57688 | 603671 | Acromelic frontonasal dysostosis | 603671 | C1863616 | OMIM | 1 | | 659 | 29316 | 615951 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | ZSWIM6 CL E G H | 57688 | 603671 | Acromelic frontonasal dysostosis | 603671 | C1863616 | OMIM | 1 | | 659 | 29316 | 615951 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | ZSWIM6 CL E G H | 57688 | 603671 | Acromelic frontonasal dysostosis | 603671 | C1863616 | OMIM | 1 | | 659 | 29316 | 615951 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | ZSWIM6 CL E G H | 57688 | 603671 | Acromelic frontonasal dysostosis | 603671 | C1863616 | OMIM | 1 | | 659 | 29316 | 615951 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | ZSWIM6 CL E G H | 57688 | 603671 | Acromelic frontonasal dysostosis | 603671 | C1863616 | OMIM | 1 | | 659 | 29316 | 615951 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | ZSWIM6 CL E G H | 57688 | 1827 | Dextrocardia | | C0011813 | ORPHA | 1 | | 659 | 29316 | 615951 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | ZSWIM6 CL E G H | 57688 | 1827 | Dextrocardia | | C0011813 | ORPHA | 1 | | 659 | 29316 | 615951 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | ZSWIM6 CL E G H | 57688 | 1827 | Dextrocardia | | C0011813 | ORPHA | 1 | | 659 | 29316 | 615951 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | ZSWIM6 CL E G H | 57688 | 1827 | Dextrocardia | | C0011813 | ORPHA | 1 | | 659 | 29316 | 615951 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | ZSWIM6 CL E G H | 57688 | 1827 | Dextrocardia | | C0011813 | ORPHA | 1 | | 659 | 29316 | 615951 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | ZSWIM6 CL E G H | 57688 | 1827 | Dextrocardia | | C0011813 | ORPHA | 1 | | 659 | 29316 | 615951 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | ZSWIM6 CL E G H | 57688 | 1827 | Dextrocardia | | C0011813 | ORPHA | 1 | | 659 | 29316 | 615951 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | ZSWIM6 CL E G H | 57688 | 1827 | Dextrocardia | | C0011813 | ORPHA | 1 | | 659 | 29316 | 615951 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | ZSWIM6 CL E G H | 57688 | 1827 | Dextrocardia | | C0011813 | ORPHA | 1 | | 659 | 29316 | 615951 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | AIPL1 CL E G H | 23746 | 65 | | | | ORPHA | 1 | | 479 | 359 | 604392 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | AIPL1 CL E G H | 23746 | 65 | | | | ORPHA | 1 | | 479 | 359 | 604392 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | ALX4 CL E G H | 60529 | 228390 | | | | ORPHA | 1 | | 281 | 450 | 605420 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | ALX4 CL E G H | 60529 | 228390 | | | | ORPHA | 1 | | 281 | 450 | 605420 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | ALX4 CL E G H | 60529 | 613451 | Frontonasal dysplasia 2 | 613451 | C3150703 | OMIM | 1 | | 281 | 450 | 605420 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | ALX4 CL E G H | 60529 | 613451 | Frontonasal dysplasia 2 | 613451 | C3150703 | OMIM | 1 | | 281 | 450 | 605420 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | ALX4 CL E G H | 60529 | 609597 | Parietal foramina 2 | 609597 | C1865044 | OMIM | 1 | | 281 | 450 | 605420 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | ALX4 CL E G H | 60529 | 609597 | Parietal foramina 2 | 609597 | C1865044 | OMIM | 1 | | 281 | 450 | 605420 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 394 | 29216 | 610911 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 394 | 29216 | 610911 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | B9D1 CL E G H | 27077 | 564 | | | | ORPHA | 1 | | 310 | 24123 | 614144 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | B9D1 CL E G H | 27077 | 564 | | | | ORPHA | 1 | | 310 | 24123 | 614144 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | B9D2 CL E G H | 80776 | 564 | | | | ORPHA | 1 | | 73 | 28636 | 611951 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | B9D2 CL E G H | 80776 | 564 | | | | ORPHA | 1 | | 73 | 28636 | 611951 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | CC2D2A CL E G H | 57545 | 564 | | | | ORPHA | 1 | | 1525 | 29253 | 612013 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | CC2D2A CL E G H | 57545 | 564 | | | | ORPHA | 1 | | 1525 | 29253 | 612013 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | CEP120 CL E G H | 153241 | 616300 | Short-rib thoracic dysplasia 13 with or without polydactyly | 616300 | C4225378 | OMIM | 1 | | 433 | 26690 | 613446 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | CEP120 CL E G H | 153241 | 616300 | Short-rib thoracic dysplasia 13 with or without polydactyly | 616300 | C4225378 | OMIM | 1 | | 433 | 26690 | 613446 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | CEP290 CL E G H | 80184 | 65 | | | | ORPHA | 1 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | CEP290 CL E G H | 80184 | 564 | | | | ORPHA | 1 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | CEP290 CL E G H | 80184 | 564 | | | | ORPHA | 1 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | CEP290 CL E G H | 80184 | 65 | | | | ORPHA | 1 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | CEP290 CL E G H | 80184 | 611134 | Meckel syndrome type 4 | 611134 | C1970161 | OMIM | 1 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | CEP290 CL E G H | 80184 | 611134 | Meckel syndrome type 4 | 611134 | C1970161 | OMIM | 1 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | CEP55 CL E G H | 55165 | 564 | | | | ORPHA | 1 | | 89 | 1161 | 610000 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | CEP55 CL E G H | 55165 | 564 | | | | ORPHA | 1 | | 89 | 1161 | 610000 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | CRB1 CL E G H | 23418 | 65 | | | | ORPHA | 1 | | 1633 | 2343 | 604210 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | CRB1 CL E G H | 23418 | 65 | | | | ORPHA | 1 | | 1633 | 2343 | 604210 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | CRX CL E G H | 1406 | 65 | | | | ORPHA | 1 | | 499 | 2383 | 602225 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | CRX CL E G H | 1406 | 65 | | | | ORPHA | 1 | | 499 | 2383 | 602225 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | CSPP1 CL E G H | 79848 | 564 | | | | ORPHA | 1 | | 1074 | 26193 | 611654 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | CSPP1 CL E G H | 79848 | 564 | | | | ORPHA | 1 | | 1074 | 26193 | 611654 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | FGFR1 CL E G H | 2260 | 2117 | Encephalopathy recurrent of childhood | | | ORPHA | 1 | | 936 | 3688 | 136350 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | FGFR1 CL E G H | 2260 | 2117 | Encephalopathy recurrent of childhood | | | ORPHA | 1 | | 936 | 3688 | 136350 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | FKTN CL E G H | 2218 | 253800 | Fukuyama congenital muscular dystrophy | 253800 | C0410174 | OMIM | 1 | | 914 | 3622 | 607440 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | FKTN CL E G H | 2218 | 253800 | Fukuyama congenital muscular dystrophy | 253800 | C0410174 | OMIM | 1 | | 914 | 3622 | 607440 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | FLNB CL E G H | 2317 | 108720 | Atelosteogenesis type 1 | 108720 | C0265283 | OMIM | 1 | | 1624 | 3755 | 603381 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | FLNB CL E G H | 2317 | 108720 | Atelosteogenesis type 1 | 108720 | C0265283 | OMIM | 1 | | 1624 | 3755 | 603381 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | FRAS1 CL E G H | 80144 | 219000 | Cryptophthalmos syndrome | 219000 | C0265233 | OMIM | 1 | | 1287 | 19185 | 607830 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | FRAS1 CL E G H | 80144 | 219000 | Cryptophthalmos syndrome | 219000 | C0265233 | OMIM | 1 | | 1287 | 19185 | 607830 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | GDF6 CL E G H | 392255 | 65 | | | | ORPHA | 1 | | 406 | 4221 | 601147 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | GDF6 CL E G H | 392255 | 65 | | | | ORPHA | 1 | | 406 | 4221 | 601147 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | GUCY2D CL E G H | 3000 | 65 | | | | ORPHA | 1 | | 1048 | 4689 | 600179 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | GUCY2D CL E G H | 3000 | 65 | | | | ORPHA | 1 | | 1048 | 4689 | 600179 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | IFT140 CL E G H | 9742 | 65 | | | | ORPHA | 1 | | 1686 | 29077 | 614620 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | IFT140 CL E G H | 9742 | 65 | | | | ORPHA | 1 | | 1686 | 29077 | 614620 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | IMPDH1 CL E G H | 3614 | 65 | | | | ORPHA | 1 | | 542 | 6052 | 146690 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | IMPDH1 CL E G H | 3614 | 65 | | | | ORPHA | 1 | | 542 | 6052 | 146690 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | IQCB1 CL E G H | 9657 | 65 | | | | ORPHA | 1 | | 496 | 28949 | 609237 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | IQCB1 CL E G H | 9657 | 65 | | | | ORPHA | 1 | | 496 | 28949 | 609237 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | 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:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | 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:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | KCNJ13 CL E G H | 3769 | 65 | | | | ORPHA | 1 | | 235 | 6259 | 603208 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | KCNJ13 CL E G H | 3769 | 65 | | | | ORPHA | 1 | | 235 | 6259 | 603208 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | LCA5 CL E G H | 167691 | 65 | | | | ORPHA | 1 | | 686 | 31923 | 611408 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | LCA5 CL E G H | 167691 | 65 | | | | ORPHA | 1 | | 686 | 31923 | 611408 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | LRAT CL E G H | 9227 | 65 | | | | ORPHA | 1 | | 242 | 6685 | 604863 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | LRAT CL E G H | 9227 | 65 | | | | ORPHA | 1 | | 242 | 6685 | 604863 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | MKS1 CL E G H | 54903 | 564 | | | | ORPHA | 1 | | 839 | 7121 | 609883 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | MKS1 CL E G H | 54903 | 564 | | | | ORPHA | 1 | | 839 | 7121 | 609883 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | MSX2 CL E G H | 4488 | 168500 | Parietal foramina 1 | 168500 | C1868599 | OMIM | 1 | | 206 | 7392 | 123101 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | MSX2 CL E G H | 4488 | 168500 | Parietal foramina 1 | 168500 | C1868599 | OMIM | 1 | | 206 | 7392 | 123101 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | NMNAT1 CL E G H | 64802 | 65 | | | | ORPHA | 1 | | 226 | 17877 | 608700 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | NMNAT1 CL E G H | 64802 | 65 | | | | ORPHA | 1 | | 226 | 17877 | 608700 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | PCYT1A CL E G H | 5130 | 65 | | | | ORPHA | 1 | | 358 | 8754 | 123695 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | PCYT1A CL E G H | 5130 | 65 | | | | ORPHA | 1 | | 358 | 8754 | 123695 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | RD3 CL E G H | 343035 | 65 | | | | ORPHA | 1 | | 256 | 19689 | 180040 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | RD3 CL E G H | 343035 | 65 | | | | ORPHA | 1 | | 256 | 19689 | 180040 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | RDH12 CL E G H | 145226 | 65 | | | | ORPHA | 1 | | 495 | 19977 | 608830 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | RDH12 CL E G H | 145226 | 65 | | | | ORPHA | 1 | | 495 | 19977 | 608830 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | RPE65 CL E G H | 6121 | 65 | | | | ORPHA | 1 | | 783 | 10294 | 180069 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | RPE65 CL E G H | 6121 | 65 | | | | ORPHA | 1 | | 783 | 10294 | 180069 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | RPGRIP1 CL E G H | 57096 | 65 | | | | ORPHA | 1 | | 1010 | 13436 | 605446 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | RPGRIP1 CL E G H | 57096 | 564 | | | | ORPHA | 1 | | 1010 | 13436 | 605446 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | RPGRIP1 CL E G H | 57096 | 564 | | | | ORPHA | 1 | | 1010 | 13436 | 605446 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | RPGRIP1 CL E G H | 57096 | 65 | | | | ORPHA | 1 | | 1010 | 13436 | 605446 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | RPGRIP1L CL E G H | 23322 | 564 | | | | ORPHA | 1 | | 1494 | 29168 | 610937 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | RPGRIP1L CL E G H | 23322 | 564 | | | | ORPHA | 1 | | 1494 | 29168 | 610937 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | RPGRIP1L CL E G H | 23322 | 611560 | Joubert syndrome 7 | 611560 | C1969053 | OMIM | 1 | | 1494 | 29168 | 610937 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | RPGRIP1L CL E G H | 23322 | 611560 | Joubert syndrome 7 | 611560 | C1969053 | OMIM | 1 | | 1494 | 29168 | 610937 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | SPATA7 CL E G H | 55812 | 65 | | | | ORPHA | 1 | | 432 | 20423 | 609868 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | SPATA7 CL E G H | 55812 | 65 | | | | ORPHA | 1 | | 432 | 20423 | 609868 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | TCTN2 CL E G H | 79867 | 564 | | | | ORPHA | 1 | | 622 | 25774 | 613846 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | TCTN2 CL E G H | 79867 | 564 | | | | ORPHA | 1 | | 622 | 25774 | 613846 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | TCTN2 CL E G H | 79867 | 613885 | Meckel syndrome type 8 | 613885 | C3836857 | OMIM | 1 | | 622 | 25774 | 613846 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | TCTN2 CL E G H | 79867 | 613885 | Meckel syndrome type 8 | 613885 | C3836857 | OMIM | 1 | | 622 | 25774 | 613846 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | TMEM107 CL E G H | 84314 | 564 | | | | ORPHA | 1 | | 299 | 28128 | 616183 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | TMEM107 CL E G H | 84314 | 564 | | | | ORPHA | 1 | | 299 | 28128 | 616183 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | TMEM216 CL E G H | 51259 | 564 | | | | ORPHA | 1 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | TMEM216 CL E G H | 51259 | 564 | | | | ORPHA | 1 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | TMEM216 CL E G H | 51259 | 603194 | Meckel syndrome type 2 | 603194 | C1864148 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | TMEM216 CL E G H | 51259 | 603194 | Meckel syndrome type 2 | 603194 | C1864148 | OMIM | 1 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | TMEM231 CL E G H | 79583 | 564 | | | | ORPHA | 1 | | 463 | 37234 | 614949 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | TMEM231 CL E G H | 79583 | 564 | | | | ORPHA | 1 | | 463 | 37234 | 614949 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | TMEM237 CL E G H | 65062 | 614424 | Joubert syndrome 14 | 614424 | C3280766 | OMIM | 1 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | TMEM237 CL E G H | 65062 | 614424 | Joubert syndrome 14 | 614424 | C3280766 | OMIM | 1 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | TMEM67 CL E G H | 91147 | 564 | | | | ORPHA | 1 | | 928 | 28396 | 609884 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | TMEM67 CL E G H | 91147 | 564 | | | | ORPHA | 1 | | 928 | 28396 | 609884 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | TMEM67 CL E G H | 91147 | 607361 | Meckel syndrome type 3 | 607361 | C1846357 | OMIM | 1 | | 928 | 28396 | 609884 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | TMEM67 CL E G H | 91147 | 607361 | Meckel syndrome type 3 | 607361 | C1846357 | OMIM | 1 | | 928 | 28396 | 609884 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | TULP1 CL E G H | 7287 | 65 | | | | ORPHA | 1 | | 587 | 12423 | 602280 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | TULP1 CL E G H | 7287 | 65 | | | | ORPHA | 1 | | 587 | 12423 | 602280 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | WDPCP CL E G H | 51057 | 564 | | | | ORPHA | 1 | | 587 | 28027 | 613580 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | WDPCP CL E G H | 51057 | 564 | | | | ORPHA | 1 | | 587 | 28027 | 613580 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | ZSWIM6 CL E G H | 57688 | 603671 | Acromelic frontonasal dysostosis | 603671 | C1863616 | OMIM | 1 | | 659 | 29316 | 615951 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | ZSWIM6 CL E G H | 57688 | 603671 | Acromelic frontonasal dysostosis | 603671 | C1863616 | OMIM | 1 | | 659 | 29316 | 615951 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | ZSWIM6 CL E G H | 57688 | 1827 | Dextrocardia | | C0011813 | ORPHA | 1 | | 659 | 29316 | 615951 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | ZSWIM6 CL E G H | 57688 | 1827 | Dextrocardia | | C0011813 | ORPHA | 1 | | 659 | 29316 | 615951 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002084 | HP:0002084 | Encephalocele | 0 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 0 | | 1194 | 21575 | 608894 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1194 | 21575 | 608894 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | ARHGAP31 CL E G H | 57514 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 394 | 29216 | 610911 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | ARL13B CL E G H | 200894 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 340 | 25419 | 608922 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | ARL3 CL E G H | 403 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 137 | 694 | 604695 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | ARMC9 CL E G H | 80210 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 631 | 20730 | 617612 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | B9D1 CL E G H | 27077 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 310 | 24123 | 614144 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | CC2D2A CL E G H | 57545 | 2318 | | | | ORPHA | 0 | | 1525 | 29253 | 612013 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | CEP104 CL E G H | 9731 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 506 | 24866 | 616690 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | CEP120 CL E G H | 153241 | 220493 | | | | ORPHA | 0 | | 433 | 26690 | 613446 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | CEP120 CL E G H | 153241 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 433 | 26690 | 613446 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | CEP290 CL E G H | 80184 | 2318 | | | | ORPHA | 0 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | CEP41 CL E G H | 95681 | 220493 | | | | ORPHA | 0 | | 435 | 12370 | 610523 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | CEP41 CL E G H | 95681 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 435 | 12370 | 610523 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | CPLANE1 CL E G H | 65250 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1989 | 25801 | 614571 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | CSPP1 CL E G H | 79848 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | DLL4 CL E G H | 54567 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 212 | 2910 | 605185 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | DOCK6 CL E G H | 57572 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 1080 | 19189 | 614194 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | EOGT CL E G H | 285203 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 218 | 28526 | 614789 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | FGFR3 CL E G H | 2261 | 93274 | | | | ORPHA | 0 | | 916 | 3690 | 134934 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | FLNA CL E G H | 2316 | 90652 | | | | ORPHA | 0 | | 3033 | 3754 | 300017 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | FRAS1 CL E G H | 80144 | 2052 | | | | ORPHA | 0 | | 1287 | 19185 | 607830 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | FREM2 CL E G H | 341640 | 2052 | | | | ORPHA | 0 | | 1000 | 25396 | 608945 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | GRIP1 CL E G H | 23426 | 2052 | | | | ORPHA | 0 | | 252 | 18708 | 604597 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | HYLS1 CL E G H | 219844 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 314 | 26558 | 610693 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | INPP5E CL E G H | 56623 | 220493 | | | | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | INPP5E CL E G H | 56623 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | KIAA0556 CL E G H | 23247 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | | 29068 | 616650 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | KIAA0586 CL E G H | 9786 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | MKS1 CL E G H | 54903 | 220493 | | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | MKS1 CL E G H | 54903 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | NOTCH1 CL E G H | 4851 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 3187 | 7881 | 190198 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | NPHP1 CL E G H | 4867 | 220497 | | | | ORPHA | 0 | | 815 | 7905 | 607100 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | PIBF1 CL E G H | 10464 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 180 | 23352 | 607532 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | POLR1C CL E G H | 9533 | 861 | | | | ORPHA | 0 | | 1944 | 20194 | 610060 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | POLR1D CL E G H | 51082 | 861 | | | | ORPHA | 0 | | 111 | 20422 | 613715 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | POMT2 CL E G H | 29954 | 613150 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | 613150 | C3150411 | OMIM | 0 | | 936 | 19743 | 607439 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | RBPJ CL E G H | 3516 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 186 | 5724 | 147183 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | RPGRIP1L CL E G H | 23322 | 220497 | | | | ORPHA | 0 | | 1494 | 29168 | 610937 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | TCOF1 CL E G H | 6949 | 861 | | | | ORPHA | 0 | | 695 | 11654 | 606847 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | TCTN1 CL E G H | 79600 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 393 | 26113 | 609863 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | TCTN2 CL E G H | 79867 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 622 | 25774 | 613846 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | TMEM138 CL E G H | 51524 | 2318 | | | | ORPHA | 0 | | 166 | 26944 | 614459 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | TMEM138 CL E G H | 51524 | 614465 | Joubert syndrome 16 | 614465 | C3280906 | OMIM | 0 | | 166 | 26944 | 614459 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | TMEM216 CL E G H | 51259 | 2318 | | | | ORPHA | 0 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | TMEM231 CL E G H | 79583 | 2318 | | | | ORPHA | 0 | | 463 | 37234 | 614949 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | TMEM237 CL E G H | 65062 | 2318 | | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | TMEM237 CL E G H | 65062 | 220497 | | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | TMEM237 CL E G H | 65062 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | TMEM67 CL E G H | 91147 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 928 | 28396 | 609884 |
HP:0002084 | HP:0002084 | Encephalocele | 0 | ZNF423 CL E G H | 23090 | 2318 | | | | ORPHA | 0 | | 810 | 16762 | 604557 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 0 | | 1194 | 21575 | 608894 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 0 | | 1194 | 21575 | 608894 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 0 | | 1194 | 21575 | 608894 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 0 | | 1194 | 21575 | 608894 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 0 | | 1194 | 21575 | 608894 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 0 | | 1194 | 21575 | 608894 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 0 | | 1194 | 21575 | 608894 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 0 | | 1194 | 21575 | 608894 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 0 | | 1194 | 21575 | 608894 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1194 | 21575 | 608894 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1194 | 21575 | 608894 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1194 | 21575 | 608894 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1194 | 21575 | 608894 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1194 | 21575 | 608894 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1194 | 21575 | 608894 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1194 | 21575 | 608894 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1194 | 21575 | 608894 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1194 | 21575 | 608894 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | ARHGAP31 CL E G H | 57514 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 394 | 29216 | 610911 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | ARHGAP31 CL E G H | 57514 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 394 | 29216 | 610911 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | ARHGAP31 CL E G H | 57514 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 394 | 29216 | 610911 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | ARHGAP31 CL E G H | 57514 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 394 | 29216 | 610911 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | ARHGAP31 CL E G H | 57514 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 394 | 29216 | 610911 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | ARHGAP31 CL E G H | 57514 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 394 | 29216 | 610911 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | ARHGAP31 CL E G H | 57514 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 394 | 29216 | 610911 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | ARHGAP31 CL E G H | 57514 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 394 | 29216 | 610911 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | ARHGAP31 CL E G H | 57514 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 394 | 29216 | 610911 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | ARL13B CL E G H | 200894 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 340 | 25419 | 608922 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | ARL13B CL E G H | 200894 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 340 | 25419 | 608922 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | ARL13B CL E G H | 200894 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 340 | 25419 | 608922 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | ARL13B CL E G H | 200894 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 340 | 25419 | 608922 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | ARL13B CL E G H | 200894 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 340 | 25419 | 608922 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | ARL13B CL E G H | 200894 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 340 | 25419 | 608922 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | ARL13B CL E G H | 200894 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 340 | 25419 | 608922 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | ARL13B CL E G H | 200894 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 340 | 25419 | 608922 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | ARL13B CL E G H | 200894 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 340 | 25419 | 608922 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | ARL3 CL E G H | 403 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 137 | 694 | 604695 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | ARL3 CL E G H | 403 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 137 | 694 | 604695 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | ARL3 CL E G H | 403 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 137 | 694 | 604695 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | ARL3 CL E G H | 403 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 137 | 694 | 604695 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | ARL3 CL E G H | 403 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 137 | 694 | 604695 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | ARL3 CL E G H | 403 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 137 | 694 | 604695 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | ARL3 CL E G H | 403 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 137 | 694 | 604695 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | ARL3 CL E G H | 403 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 137 | 694 | 604695 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | ARL3 CL E G H | 403 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 137 | 694 | 604695 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | ARMC9 CL E G H | 80210 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 631 | 20730 | 617612 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | ARMC9 CL E G H | 80210 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 631 | 20730 | 617612 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | ARMC9 CL E G H | 80210 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 631 | 20730 | 617612 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | ARMC9 CL E G H | 80210 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 631 | 20730 | 617612 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | ARMC9 CL E G H | 80210 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 631 | 20730 | 617612 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | ARMC9 CL E G H | 80210 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 631 | 20730 | 617612 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | ARMC9 CL E G H | 80210 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 631 | 20730 | 617612 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | ARMC9 CL E G H | 80210 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 631 | 20730 | 617612 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | ARMC9 CL E G H | 80210 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 631 | 20730 | 617612 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | B9D1 CL E G H | 27077 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 310 | 24123 | 614144 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | B9D1 CL E G H | 27077 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 310 | 24123 | 614144 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | B9D1 CL E G H | 27077 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 310 | 24123 | 614144 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | B9D1 CL E G H | 27077 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 310 | 24123 | 614144 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | B9D1 CL E G H | 27077 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 310 | 24123 | 614144 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | B9D1 CL E G H | 27077 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 310 | 24123 | 614144 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | B9D1 CL E G H | 27077 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 310 | 24123 | 614144 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | B9D1 CL E G H | 27077 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 310 | 24123 | 614144 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | B9D1 CL E G H | 27077 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 310 | 24123 | 614144 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | CC2D2A CL E G H | 57545 | 2318 | | | | ORPHA | 0 | | 1525 | 29253 | 612013 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | CC2D2A CL E G H | 57545 | 2318 | | | | ORPHA | 0 | | 1525 | 29253 | 612013 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | CC2D2A CL E G H | 57545 | 2318 | | | | ORPHA | 0 | | 1525 | 29253 | 612013 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | CC2D2A CL E G H | 57545 | 2318 | | | | ORPHA | 0 | | 1525 | 29253 | 612013 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | CC2D2A CL E G H | 57545 | 2318 | | | | ORPHA | 0 | | 1525 | 29253 | 612013 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | CC2D2A CL E G H | 57545 | 2318 | | | | ORPHA | 0 | | 1525 | 29253 | 612013 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | CC2D2A CL E G H | 57545 | 2318 | | | | ORPHA | 0 | | 1525 | 29253 | 612013 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | CC2D2A CL E G H | 57545 | 2318 | | | | ORPHA | 0 | | 1525 | 29253 | 612013 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | CC2D2A CL E G H | 57545 | 2318 | | | | ORPHA | 0 | | 1525 | 29253 | 612013 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | CEP104 CL E G H | 9731 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 506 | 24866 | 616690 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | CEP104 CL E G H | 9731 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 506 | 24866 | 616690 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | CEP104 CL E G H | 9731 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 506 | 24866 | 616690 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | CEP104 CL E G H | 9731 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 506 | 24866 | 616690 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | CEP104 CL E G H | 9731 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 506 | 24866 | 616690 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | CEP104 CL E G H | 9731 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 506 | 24866 | 616690 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | CEP104 CL E G H | 9731 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 506 | 24866 | 616690 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | CEP104 CL E G H | 9731 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 506 | 24866 | 616690 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | CEP104 CL E G H | 9731 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 506 | 24866 | 616690 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | CEP120 CL E G H | 153241 | 220493 | | | | ORPHA | 0 | | 433 | 26690 | 613446 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | CEP120 CL E G H | 153241 | 220493 | | | | ORPHA | 0 | | 433 | 26690 | 613446 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | CEP120 CL E G H | 153241 | 220493 | | | | ORPHA | 0 | | 433 | 26690 | 613446 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | CEP120 CL E G H | 153241 | 220493 | | | | ORPHA | 0 | | 433 | 26690 | 613446 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | CEP120 CL E G H | 153241 | 220493 | | | | ORPHA | 0 | | 433 | 26690 | 613446 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | CEP120 CL E G H | 153241 | 220493 | | | | ORPHA | 0 | | 433 | 26690 | 613446 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | CEP120 CL E G H | 153241 | 220493 | | | | ORPHA | 0 | | 433 | 26690 | 613446 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | CEP120 CL E G H | 153241 | 220493 | | | | ORPHA | 0 | | 433 | 26690 | 613446 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | CEP120 CL E G H | 153241 | 220493 | | | | ORPHA | 0 | | 433 | 26690 | 613446 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | CEP120 CL E G H | 153241 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 433 | 26690 | 613446 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | CEP120 CL E G H | 153241 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 433 | 26690 | 613446 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | CEP120 CL E G H | 153241 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 433 | 26690 | 613446 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | CEP120 CL E G H | 153241 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 433 | 26690 | 613446 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | CEP120 CL E G H | 153241 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 433 | 26690 | 613446 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | CEP120 CL E G H | 153241 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 433 | 26690 | 613446 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | CEP120 CL E G H | 153241 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 433 | 26690 | 613446 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | CEP120 CL E G H | 153241 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 433 | 26690 | 613446 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | CEP120 CL E G H | 153241 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 433 | 26690 | 613446 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | CEP290 CL E G H | 80184 | 2318 | | | | ORPHA | 0 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | CEP290 CL E G H | 80184 | 2318 | | | | ORPHA | 0 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | CEP290 CL E G H | 80184 | 2318 | | | | ORPHA | 0 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | CEP290 CL E G H | 80184 | 2318 | | | | ORPHA | 0 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | CEP290 CL E G H | 80184 | 2318 | | | | ORPHA | 0 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | CEP290 CL E G H | 80184 | 2318 | | | | ORPHA | 0 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | CEP290 CL E G H | 80184 | 2318 | | | | ORPHA | 0 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | CEP290 CL E G H | 80184 | 2318 | | | | ORPHA | 0 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | CEP290 CL E G H | 80184 | 2318 | | | | ORPHA | 0 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | CEP41 CL E G H | 95681 | 220493 | | | | ORPHA | 0 | | 435 | 12370 | 610523 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | CEP41 CL E G H | 95681 | 220493 | | | | ORPHA | 0 | | 435 | 12370 | 610523 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | CEP41 CL E G H | 95681 | 220493 | | | | ORPHA | 0 | | 435 | 12370 | 610523 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | CEP41 CL E G H | 95681 | 220493 | | | | ORPHA | 0 | | 435 | 12370 | 610523 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | CEP41 CL E G H | 95681 | 220493 | | | | ORPHA | 0 | | 435 | 12370 | 610523 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | CEP41 CL E G H | 95681 | 220493 | | | | ORPHA | 0 | | 435 | 12370 | 610523 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | CEP41 CL E G H | 95681 | 220493 | | | | ORPHA | 0 | | 435 | 12370 | 610523 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | CEP41 CL E G H | 95681 | 220493 | | | | ORPHA | 0 | | 435 | 12370 | 610523 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | CEP41 CL E G H | 95681 | 220493 | | | | ORPHA | 0 | | 435 | 12370 | 610523 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | CEP41 CL E G H | 95681 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 435 | 12370 | 610523 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | CEP41 CL E G H | 95681 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 435 | 12370 | 610523 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | CEP41 CL E G H | 95681 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 435 | 12370 | 610523 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | CEP41 CL E G H | 95681 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 435 | 12370 | 610523 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | CEP41 CL E G H | 95681 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 435 | 12370 | 610523 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | CEP41 CL E G H | 95681 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 435 | 12370 | 610523 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | CEP41 CL E G H | 95681 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 435 | 12370 | 610523 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | CEP41 CL E G H | 95681 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 435 | 12370 | 610523 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | CEP41 CL E G H | 95681 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 435 | 12370 | 610523 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | CPLANE1 CL E G H | 65250 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1989 | 25801 | 614571 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | CPLANE1 CL E G H | 65250 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1989 | 25801 | 614571 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | CPLANE1 CL E G H | 65250 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1989 | 25801 | 614571 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | CPLANE1 CL E G H | 65250 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1989 | 25801 | 614571 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | CPLANE1 CL E G H | 65250 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1989 | 25801 | 614571 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | CPLANE1 CL E G H | 65250 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1989 | 25801 | 614571 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | CPLANE1 CL E G H | 65250 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1989 | 25801 | 614571 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | CPLANE1 CL E G H | 65250 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1989 | 25801 | 614571 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | CPLANE1 CL E G H | 65250 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1989 | 25801 | 614571 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | CSPP1 CL E G H | 79848 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | CSPP1 CL E G H | 79848 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | CSPP1 CL E G H | 79848 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | CSPP1 CL E G H | 79848 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | CSPP1 CL E G H | 79848 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | CSPP1 CL E G H | 79848 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | CSPP1 CL E G H | 79848 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | CSPP1 CL E G H | 79848 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | CSPP1 CL E G H | 79848 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | DLL4 CL E G H | 54567 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 212 | 2910 | 605185 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | DLL4 CL E G H | 54567 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 212 | 2910 | 605185 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | DLL4 CL E G H | 54567 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 212 | 2910 | 605185 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | DLL4 CL E G H | 54567 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 212 | 2910 | 605185 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | DLL4 CL E G H | 54567 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 212 | 2910 | 605185 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | DLL4 CL E G H | 54567 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 212 | 2910 | 605185 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | DLL4 CL E G H | 54567 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 212 | 2910 | 605185 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | DLL4 CL E G H | 54567 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 212 | 2910 | 605185 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | DLL4 CL E G H | 54567 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 212 | 2910 | 605185 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | DOCK6 CL E G H | 57572 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 1080 | 19189 | 614194 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | DOCK6 CL E G H | 57572 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 1080 | 19189 | 614194 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | DOCK6 CL E G H | 57572 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 1080 | 19189 | 614194 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | DOCK6 CL E G H | 57572 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 1080 | 19189 | 614194 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | DOCK6 CL E G H | 57572 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 1080 | 19189 | 614194 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | DOCK6 CL E G H | 57572 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 1080 | 19189 | 614194 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | DOCK6 CL E G H | 57572 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 1080 | 19189 | 614194 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | DOCK6 CL E G H | 57572 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 1080 | 19189 | 614194 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | DOCK6 CL E G H | 57572 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 1080 | 19189 | 614194 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | EOGT CL E G H | 285203 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 218 | 28526 | 614789 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | EOGT CL E G H | 285203 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 218 | 28526 | 614789 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | EOGT CL E G H | 285203 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 218 | 28526 | 614789 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | EOGT CL E G H | 285203 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 218 | 28526 | 614789 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | EOGT CL E G H | 285203 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 218 | 28526 | 614789 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | EOGT CL E G H | 285203 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 218 | 28526 | 614789 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | EOGT CL E G H | 285203 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 218 | 28526 | 614789 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | EOGT CL E G H | 285203 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 218 | 28526 | 614789 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | EOGT CL E G H | 285203 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 218 | 28526 | 614789 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | FGFR3 CL E G H | 2261 | 93274 | | | | ORPHA | 0 | | 916 | 3690 | 134934 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | FGFR3 CL E G H | 2261 | 93274 | | | | ORPHA | 0 | | 916 | 3690 | 134934 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | FGFR3 CL E G H | 2261 | 93274 | | | | ORPHA | 0 | | 916 | 3690 | 134934 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | FGFR3 CL E G H | 2261 | 93274 | | | | ORPHA | 0 | | 916 | 3690 | 134934 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | FGFR3 CL E G H | 2261 | 93274 | | | | ORPHA | 0 | | 916 | 3690 | 134934 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | FGFR3 CL E G H | 2261 | 93274 | | | | ORPHA | 0 | | 916 | 3690 | 134934 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | FGFR3 CL E G H | 2261 | 93274 | | | | ORPHA | 0 | | 916 | 3690 | 134934 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | FGFR3 CL E G H | 2261 | 93274 | | | | ORPHA | 0 | | 916 | 3690 | 134934 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | FGFR3 CL E G H | 2261 | 93274 | | | | ORPHA | 0 | | 916 | 3690 | 134934 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | FLNA CL E G H | 2316 | 90652 | | | | ORPHA | 0 | | 3033 | 3754 | 300017 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | FLNA CL E G H | 2316 | 90652 | | | | ORPHA | 0 | | 3033 | 3754 | 300017 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | FLNA CL E G H | 2316 | 90652 | | | | ORPHA | 0 | | 3033 | 3754 | 300017 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | FLNA CL E G H | 2316 | 90652 | | | | ORPHA | 0 | | 3033 | 3754 | 300017 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | FLNA CL E G H | 2316 | 90652 | | | | ORPHA | 0 | | 3033 | 3754 | 300017 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | FLNA CL E G H | 2316 | 90652 | | | | ORPHA | 0 | | 3033 | 3754 | 300017 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | FLNA CL E G H | 2316 | 90652 | | | | ORPHA | 0 | | 3033 | 3754 | 300017 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | FLNA CL E G H | 2316 | 90652 | | | | ORPHA | 0 | | 3033 | 3754 | 300017 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | FLNA CL E G H | 2316 | 90652 | | | | ORPHA | 0 | | 3033 | 3754 | 300017 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | FRAS1 CL E G H | 80144 | 2052 | | | | ORPHA | 0 | | 1287 | 19185 | 607830 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | FRAS1 CL E G H | 80144 | 2052 | | | | ORPHA | 0 | | 1287 | 19185 | 607830 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | FRAS1 CL E G H | 80144 | 2052 | | | | ORPHA | 0 | | 1287 | 19185 | 607830 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | FRAS1 CL E G H | 80144 | 2052 | | | | ORPHA | 0 | | 1287 | 19185 | 607830 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | FRAS1 CL E G H | 80144 | 2052 | | | | ORPHA | 0 | | 1287 | 19185 | 607830 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | FRAS1 CL E G H | 80144 | 2052 | | | | ORPHA | 0 | | 1287 | 19185 | 607830 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | FRAS1 CL E G H | 80144 | 2052 | | | | ORPHA | 0 | | 1287 | 19185 | 607830 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | FRAS1 CL E G H | 80144 | 2052 | | | | ORPHA | 0 | | 1287 | 19185 | 607830 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | FRAS1 CL E G H | 80144 | 2052 | | | | ORPHA | 0 | | 1287 | 19185 | 607830 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | FREM2 CL E G H | 341640 | 2052 | | | | ORPHA | 0 | | 1000 | 25396 | 608945 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | FREM2 CL E G H | 341640 | 2052 | | | | ORPHA | 0 | | 1000 | 25396 | 608945 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | FREM2 CL E G H | 341640 | 2052 | | | | ORPHA | 0 | | 1000 | 25396 | 608945 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | FREM2 CL E G H | 341640 | 2052 | | | | ORPHA | 0 | | 1000 | 25396 | 608945 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | FREM2 CL E G H | 341640 | 2052 | | | | ORPHA | 0 | | 1000 | 25396 | 608945 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | FREM2 CL E G H | 341640 | 2052 | | | | ORPHA | 0 | | 1000 | 25396 | 608945 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | FREM2 CL E G H | 341640 | 2052 | | | | ORPHA | 0 | | 1000 | 25396 | 608945 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | FREM2 CL E G H | 341640 | 2052 | | | | ORPHA | 0 | | 1000 | 25396 | 608945 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | FREM2 CL E G H | 341640 | 2052 | | | | ORPHA | 0 | | 1000 | 25396 | 608945 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | GRIP1 CL E G H | 23426 | 2052 | | | | ORPHA | 0 | | 252 | 18708 | 604597 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | GRIP1 CL E G H | 23426 | 2052 | | | | ORPHA | 0 | | 252 | 18708 | 604597 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | GRIP1 CL E G H | 23426 | 2052 | | | | ORPHA | 0 | | 252 | 18708 | 604597 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | GRIP1 CL E G H | 23426 | 2052 | | | | ORPHA | 0 | | 252 | 18708 | 604597 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | GRIP1 CL E G H | 23426 | 2052 | | | | ORPHA | 0 | | 252 | 18708 | 604597 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | GRIP1 CL E G H | 23426 | 2052 | | | | ORPHA | 0 | | 252 | 18708 | 604597 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | GRIP1 CL E G H | 23426 | 2052 | | | | ORPHA | 0 | | 252 | 18708 | 604597 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | GRIP1 CL E G H | 23426 | 2052 | | | | ORPHA | 0 | | 252 | 18708 | 604597 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | GRIP1 CL E G H | 23426 | 2052 | | | | ORPHA | 0 | | 252 | 18708 | 604597 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | HYLS1 CL E G H | 219844 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 314 | 26558 | 610693 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | HYLS1 CL E G H | 219844 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 314 | 26558 | 610693 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | HYLS1 CL E G H | 219844 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 314 | 26558 | 610693 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | HYLS1 CL E G H | 219844 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 314 | 26558 | 610693 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | HYLS1 CL E G H | 219844 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 314 | 26558 | 610693 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | HYLS1 CL E G H | 219844 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 314 | 26558 | 610693 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | HYLS1 CL E G H | 219844 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 314 | 26558 | 610693 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | HYLS1 CL E G H | 219844 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 314 | 26558 | 610693 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | HYLS1 CL E G H | 219844 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 314 | 26558 | 610693 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | INPP5E CL E G H | 56623 | 220493 | | | | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | INPP5E CL E G H | 56623 | 220493 | | | | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | INPP5E CL E G H | 56623 | 220493 | | | | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | INPP5E CL E G H | 56623 | 220493 | | | | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | INPP5E CL E G H | 56623 | 220493 | | | | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | INPP5E CL E G H | 56623 | 220493 | | | | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | INPP5E CL E G H | 56623 | 220493 | | | | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | INPP5E CL E G H | 56623 | 220493 | | | | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | INPP5E CL E G H | 56623 | 220493 | | | | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | INPP5E CL E G H | 56623 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | INPP5E CL E G H | 56623 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | INPP5E CL E G H | 56623 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | INPP5E CL E G H | 56623 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | INPP5E CL E G H | 56623 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | INPP5E CL E G H | 56623 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | INPP5E CL E G H | 56623 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | INPP5E CL E G H | 56623 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | INPP5E CL E G H | 56623 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | KIAA0556 CL E G H | 23247 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | | 29068 | 616650 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | KIAA0556 CL E G H | 23247 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | | 29068 | 616650 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | KIAA0556 CL E G H | 23247 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | | 29068 | 616650 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | KIAA0556 CL E G H | 23247 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | | 29068 | 616650 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | KIAA0556 CL E G H | 23247 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | | 29068 | 616650 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | KIAA0556 CL E G H | 23247 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | | 29068 | 616650 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | KIAA0556 CL E G H | 23247 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | | 29068 | 616650 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | KIAA0556 CL E G H | 23247 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | | 29068 | 616650 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | KIAA0556 CL E G H | 23247 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | | 29068 | 616650 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | KIAA0586 CL E G H | 9786 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | KIAA0586 CL E G H | 9786 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | KIAA0586 CL E G H | 9786 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | KIAA0586 CL E G H | 9786 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | KIAA0586 CL E G H | 9786 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | KIAA0586 CL E G H | 9786 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | KIAA0586 CL E G H | 9786 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | KIAA0586 CL E G H | 9786 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | KIAA0586 CL E G H | 9786 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | MKS1 CL E G H | 54903 | 220493 | | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | MKS1 CL E G H | 54903 | 220493 | | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | MKS1 CL E G H | 54903 | 220493 | | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | MKS1 CL E G H | 54903 | 220493 | | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | MKS1 CL E G H | 54903 | 220493 | | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | MKS1 CL E G H | 54903 | 220493 | | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | MKS1 CL E G H | 54903 | 220493 | | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | MKS1 CL E G H | 54903 | 220493 | | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | MKS1 CL E G H | 54903 | 220493 | | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | MKS1 CL E G H | 54903 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | MKS1 CL E G H | 54903 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | MKS1 CL E G H | 54903 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | MKS1 CL E G H | 54903 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | MKS1 CL E G H | 54903 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | MKS1 CL E G H | 54903 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | MKS1 CL E G H | 54903 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | MKS1 CL E G H | 54903 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | MKS1 CL E G H | 54903 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | NOTCH1 CL E G H | 4851 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 3187 | 7881 | 190198 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | NOTCH1 CL E G H | 4851 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 3187 | 7881 | 190198 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | NOTCH1 CL E G H | 4851 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 3187 | 7881 | 190198 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | NOTCH1 CL E G H | 4851 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 3187 | 7881 | 190198 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | NOTCH1 CL E G H | 4851 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 3187 | 7881 | 190198 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | NOTCH1 CL E G H | 4851 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 3187 | 7881 | 190198 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | NOTCH1 CL E G H | 4851 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 3187 | 7881 | 190198 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | NOTCH1 CL E G H | 4851 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 3187 | 7881 | 190198 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | NOTCH1 CL E G H | 4851 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 3187 | 7881 | 190198 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | NPHP1 CL E G H | 4867 | 220497 | | | | ORPHA | 0 | | 815 | 7905 | 607100 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | NPHP1 CL E G H | 4867 | 220497 | | | | ORPHA | 0 | | 815 | 7905 | 607100 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | NPHP1 CL E G H | 4867 | 220497 | | | | ORPHA | 0 | | 815 | 7905 | 607100 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | NPHP1 CL E G H | 4867 | 220497 | | | | ORPHA | 0 | | 815 | 7905 | 607100 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | NPHP1 CL E G H | 4867 | 220497 | | | | ORPHA | 0 | | 815 | 7905 | 607100 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | NPHP1 CL E G H | 4867 | 220497 | | | | ORPHA | 0 | | 815 | 7905 | 607100 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | NPHP1 CL E G H | 4867 | 220497 | | | | ORPHA | 0 | | 815 | 7905 | 607100 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | NPHP1 CL E G H | 4867 | 220497 | | | | ORPHA | 0 | | 815 | 7905 | 607100 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | NPHP1 CL E G H | 4867 | 220497 | | | | ORPHA | 0 | | 815 | 7905 | 607100 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | PIBF1 CL E G H | 10464 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 180 | 23352 | 607532 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | PIBF1 CL E G H | 10464 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 180 | 23352 | 607532 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | PIBF1 CL E G H | 10464 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 180 | 23352 | 607532 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | PIBF1 CL E G H | 10464 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 180 | 23352 | 607532 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | PIBF1 CL E G H | 10464 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 180 | 23352 | 607532 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | PIBF1 CL E G H | 10464 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 180 | 23352 | 607532 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | PIBF1 CL E G H | 10464 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 180 | 23352 | 607532 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | PIBF1 CL E G H | 10464 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 180 | 23352 | 607532 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | PIBF1 CL E G H | 10464 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 180 | 23352 | 607532 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | POLR1C CL E G H | 9533 | 861 | | | | ORPHA | 0 | | 1944 | 20194 | 610060 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | POLR1C CL E G H | 9533 | 861 | | | | ORPHA | 0 | | 1944 | 20194 | 610060 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | POLR1C CL E G H | 9533 | 861 | | | | ORPHA | 0 | | 1944 | 20194 | 610060 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | POLR1C CL E G H | 9533 | 861 | | | | ORPHA | 0 | | 1944 | 20194 | 610060 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | POLR1C CL E G H | 9533 | 861 | | | | ORPHA | 0 | | 1944 | 20194 | 610060 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | POLR1C CL E G H | 9533 | 861 | | | | ORPHA | 0 | | 1944 | 20194 | 610060 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | POLR1C CL E G H | 9533 | 861 | | | | ORPHA | 0 | | 1944 | 20194 | 610060 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | POLR1C CL E G H | 9533 | 861 | | | | ORPHA | 0 | | 1944 | 20194 | 610060 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | POLR1C CL E G H | 9533 | 861 | | | | ORPHA | 0 | | 1944 | 20194 | 610060 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | POLR1D CL E G H | 51082 | 861 | | | | ORPHA | 0 | | 111 | 20422 | 613715 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | POLR1D CL E G H | 51082 | 861 | | | | ORPHA | 0 | | 111 | 20422 | 613715 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | POLR1D CL E G H | 51082 | 861 | | | | ORPHA | 0 | | 111 | 20422 | 613715 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | POLR1D CL E G H | 51082 | 861 | | | | ORPHA | 0 | | 111 | 20422 | 613715 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | POLR1D CL E G H | 51082 | 861 | | | | ORPHA | 0 | | 111 | 20422 | 613715 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | POLR1D CL E G H | 51082 | 861 | | | | ORPHA | 0 | | 111 | 20422 | 613715 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | POLR1D CL E G H | 51082 | 861 | | | | ORPHA | 0 | | 111 | 20422 | 613715 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | POLR1D CL E G H | 51082 | 861 | | | | ORPHA | 0 | | 111 | 20422 | 613715 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | POLR1D CL E G H | 51082 | 861 | | | | ORPHA | 0 | | 111 | 20422 | 613715 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | POMT2 CL E G H | 29954 | 613150 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | 613150 | C3150411 | OMIM | 0 | | 936 | 19743 | 607439 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | POMT2 CL E G H | 29954 | 613150 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | 613150 | C3150411 | OMIM | 0 | | 936 | 19743 | 607439 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | POMT2 CL E G H | 29954 | 613150 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | 613150 | C3150411 | OMIM | 0 | | 936 | 19743 | 607439 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | POMT2 CL E G H | 29954 | 613150 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | 613150 | C3150411 | OMIM | 0 | | 936 | 19743 | 607439 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | POMT2 CL E G H | 29954 | 613150 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | 613150 | C3150411 | OMIM | 0 | | 936 | 19743 | 607439 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | POMT2 CL E G H | 29954 | 613150 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | 613150 | C3150411 | OMIM | 0 | | 936 | 19743 | 607439 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | POMT2 CL E G H | 29954 | 613150 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | 613150 | C3150411 | OMIM | 0 | | 936 | 19743 | 607439 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | POMT2 CL E G H | 29954 | 613150 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | 613150 | C3150411 | OMIM | 0 | | 936 | 19743 | 607439 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | POMT2 CL E G H | 29954 | 613150 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | 613150 | C3150411 | OMIM | 0 | | 936 | 19743 | 607439 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | RBPJ CL E G H | 3516 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 186 | 5724 | 147183 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | RBPJ CL E G H | 3516 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 186 | 5724 | 147183 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | RBPJ CL E G H | 3516 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 186 | 5724 | 147183 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | RBPJ CL E G H | 3516 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 186 | 5724 | 147183 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | RBPJ CL E G H | 3516 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 186 | 5724 | 147183 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | RBPJ CL E G H | 3516 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 186 | 5724 | 147183 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | RBPJ CL E G H | 3516 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 186 | 5724 | 147183 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | RBPJ CL E G H | 3516 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 186 | 5724 | 147183 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | RBPJ CL E G H | 3516 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 186 | 5724 | 147183 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | RPGRIP1L CL E G H | 23322 | 220497 | | | | ORPHA | 0 | | 1494 | 29168 | 610937 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | RPGRIP1L CL E G H | 23322 | 220497 | | | | ORPHA | 0 | | 1494 | 29168 | 610937 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | RPGRIP1L CL E G H | 23322 | 220497 | | | | ORPHA | 0 | | 1494 | 29168 | 610937 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | RPGRIP1L CL E G H | 23322 | 220497 | | | | ORPHA | 0 | | 1494 | 29168 | 610937 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | RPGRIP1L CL E G H | 23322 | 220497 | | | | ORPHA | 0 | | 1494 | 29168 | 610937 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | RPGRIP1L CL E G H | 23322 | 220497 | | | | ORPHA | 0 | | 1494 | 29168 | 610937 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | RPGRIP1L CL E G H | 23322 | 220497 | | | | ORPHA | 0 | | 1494 | 29168 | 610937 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | RPGRIP1L CL E G H | 23322 | 220497 | | | | ORPHA | 0 | | 1494 | 29168 | 610937 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | RPGRIP1L CL E G H | 23322 | 220497 | | | | ORPHA | 0 | | 1494 | 29168 | 610937 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | TCOF1 CL E G H | 6949 | 861 | | | | ORPHA | 0 | | 695 | 11654 | 606847 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | TCOF1 CL E G H | 6949 | 861 | | | | ORPHA | 0 | | 695 | 11654 | 606847 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | TCOF1 CL E G H | 6949 | 861 | | | | ORPHA | 0 | | 695 | 11654 | 606847 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | TCOF1 CL E G H | 6949 | 861 | | | | ORPHA | 0 | | 695 | 11654 | 606847 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | TCOF1 CL E G H | 6949 | 861 | | | | ORPHA | 0 | | 695 | 11654 | 606847 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | TCOF1 CL E G H | 6949 | 861 | | | | ORPHA | 0 | | 695 | 11654 | 606847 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | TCOF1 CL E G H | 6949 | 861 | | | | ORPHA | 0 | | 695 | 11654 | 606847 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | TCOF1 CL E G H | 6949 | 861 | | | | ORPHA | 0 | | 695 | 11654 | 606847 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | TCOF1 CL E G H | 6949 | 861 | | | | ORPHA | 0 | | 695 | 11654 | 606847 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | TCTN1 CL E G H | 79600 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 393 | 26113 | 609863 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | TCTN1 CL E G H | 79600 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 393 | 26113 | 609863 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | TCTN1 CL E G H | 79600 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 393 | 26113 | 609863 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | TCTN1 CL E G H | 79600 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 393 | 26113 | 609863 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | TCTN1 CL E G H | 79600 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 393 | 26113 | 609863 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | TCTN1 CL E G H | 79600 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 393 | 26113 | 609863 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | TCTN1 CL E G H | 79600 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 393 | 26113 | 609863 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | TCTN1 CL E G H | 79600 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 393 | 26113 | 609863 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | TCTN1 CL E G H | 79600 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 393 | 26113 | 609863 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | TCTN2 CL E G H | 79867 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 622 | 25774 | 613846 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | TCTN2 CL E G H | 79867 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 622 | 25774 | 613846 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | TCTN2 CL E G H | 79867 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 622 | 25774 | 613846 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | TCTN2 CL E G H | 79867 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 622 | 25774 | 613846 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | TCTN2 CL E G H | 79867 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 622 | 25774 | 613846 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | TCTN2 CL E G H | 79867 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 622 | 25774 | 613846 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | TCTN2 CL E G H | 79867 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 622 | 25774 | 613846 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | TCTN2 CL E G H | 79867 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 622 | 25774 | 613846 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | TCTN2 CL E G H | 79867 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 622 | 25774 | 613846 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | TMEM138 CL E G H | 51524 | 2318 | | | | ORPHA | 0 | | 166 | 26944 | 614459 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | TMEM138 CL E G H | 51524 | 2318 | | | | ORPHA | 0 | | 166 | 26944 | 614459 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | TMEM138 CL E G H | 51524 | 2318 | | | | ORPHA | 0 | | 166 | 26944 | 614459 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | TMEM138 CL E G H | 51524 | 2318 | | | | ORPHA | 0 | | 166 | 26944 | 614459 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | TMEM138 CL E G H | 51524 | 2318 | | | | ORPHA | 0 | | 166 | 26944 | 614459 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | TMEM138 CL E G H | 51524 | 2318 | | | | ORPHA | 0 | | 166 | 26944 | 614459 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | TMEM138 CL E G H | 51524 | 2318 | | | | ORPHA | 0 | | 166 | 26944 | 614459 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | TMEM138 CL E G H | 51524 | 2318 | | | | ORPHA | 0 | | 166 | 26944 | 614459 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | TMEM138 CL E G H | 51524 | 2318 | | | | ORPHA | 0 | | 166 | 26944 | 614459 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | TMEM138 CL E G H | 51524 | 614465 | Joubert syndrome 16 | 614465 | C3280906 | OMIM | 0 | | 166 | 26944 | 614459 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | TMEM138 CL E G H | 51524 | 614465 | Joubert syndrome 16 | 614465 | C3280906 | OMIM | 0 | | 166 | 26944 | 614459 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | TMEM138 CL E G H | 51524 | 614465 | Joubert syndrome 16 | 614465 | C3280906 | OMIM | 0 | | 166 | 26944 | 614459 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | TMEM138 CL E G H | 51524 | 614465 | Joubert syndrome 16 | 614465 | C3280906 | OMIM | 0 | | 166 | 26944 | 614459 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | TMEM138 CL E G H | 51524 | 614465 | Joubert syndrome 16 | 614465 | C3280906 | OMIM | 0 | | 166 | 26944 | 614459 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | TMEM138 CL E G H | 51524 | 614465 | Joubert syndrome 16 | 614465 | C3280906 | OMIM | 0 | | 166 | 26944 | 614459 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | TMEM138 CL E G H | 51524 | 614465 | Joubert syndrome 16 | 614465 | C3280906 | OMIM | 0 | | 166 | 26944 | 614459 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | TMEM138 CL E G H | 51524 | 614465 | Joubert syndrome 16 | 614465 | C3280906 | OMIM | 0 | | 166 | 26944 | 614459 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | TMEM138 CL E G H | 51524 | 614465 | Joubert syndrome 16 | 614465 | C3280906 | OMIM | 0 | | 166 | 26944 | 614459 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | TMEM216 CL E G H | 51259 | 2318 | | | | ORPHA | 0 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | TMEM216 CL E G H | 51259 | 2318 | | | | ORPHA | 0 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | TMEM216 CL E G H | 51259 | 2318 | | | | ORPHA | 0 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | TMEM216 CL E G H | 51259 | 2318 | | | | ORPHA | 0 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | TMEM216 CL E G H | 51259 | 2318 | | | | ORPHA | 0 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | TMEM216 CL E G H | 51259 | 2318 | | | | ORPHA | 0 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | TMEM216 CL E G H | 51259 | 2318 | | | | ORPHA | 0 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | TMEM216 CL E G H | 51259 | 2318 | | | | ORPHA | 0 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | TMEM216 CL E G H | 51259 | 2318 | | | | ORPHA | 0 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | TMEM231 CL E G H | 79583 | 2318 | | | | ORPHA | 0 | | 463 | 37234 | 614949 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | TMEM231 CL E G H | 79583 | 2318 | | | | ORPHA | 0 | | 463 | 37234 | 614949 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | TMEM231 CL E G H | 79583 | 2318 | | | | ORPHA | 0 | | 463 | 37234 | 614949 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | TMEM231 CL E G H | 79583 | 2318 | | | | ORPHA | 0 | | 463 | 37234 | 614949 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | TMEM231 CL E G H | 79583 | 2318 | | | | ORPHA | 0 | | 463 | 37234 | 614949 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | TMEM231 CL E G H | 79583 | 2318 | | | | ORPHA | 0 | | 463 | 37234 | 614949 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | TMEM231 CL E G H | 79583 | 2318 | | | | ORPHA | 0 | | 463 | 37234 | 614949 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | TMEM231 CL E G H | 79583 | 2318 | | | | ORPHA | 0 | | 463 | 37234 | 614949 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | TMEM231 CL E G H | 79583 | 2318 | | | | ORPHA | 0 | | 463 | 37234 | 614949 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | TMEM237 CL E G H | 65062 | 2318 | | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | TMEM237 CL E G H | 65062 | 220497 | | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | TMEM237 CL E G H | 65062 | 2318 | | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | TMEM237 CL E G H | 65062 | 220497 | | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | TMEM237 CL E G H | 65062 | 2318 | | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | TMEM237 CL E G H | 65062 | 220497 | | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | TMEM237 CL E G H | 65062 | 2318 | | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | TMEM237 CL E G H | 65062 | 220497 | | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | TMEM237 CL E G H | 65062 | 220497 | | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | TMEM237 CL E G H | 65062 | 2318 | | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | TMEM237 CL E G H | 65062 | 220497 | | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | TMEM237 CL E G H | 65062 | 2318 | | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | TMEM237 CL E G H | 65062 | 2318 | | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | TMEM237 CL E G H | 65062 | 220497 | | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | TMEM237 CL E G H | 65062 | 2318 | | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | TMEM237 CL E G H | 65062 | 220497 | | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | TMEM237 CL E G H | 65062 | 2318 | | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | TMEM237 CL E G H | 65062 | 220497 | | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | TMEM237 CL E G H | 65062 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | TMEM237 CL E G H | 65062 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | TMEM237 CL E G H | 65062 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | TMEM237 CL E G H | 65062 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | TMEM237 CL E G H | 65062 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | TMEM237 CL E G H | 65062 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | TMEM237 CL E G H | 65062 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | TMEM237 CL E G H | 65062 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | TMEM237 CL E G H | 65062 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | TMEM67 CL E G H | 91147 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 928 | 28396 | 609884 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | TMEM67 CL E G H | 91147 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 928 | 28396 | 609884 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | TMEM67 CL E G H | 91147 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 928 | 28396 | 609884 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | TMEM67 CL E G H | 91147 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 928 | 28396 | 609884 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | TMEM67 CL E G H | 91147 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 928 | 28396 | 609884 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | TMEM67 CL E G H | 91147 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 928 | 28396 | 609884 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | TMEM67 CL E G H | 91147 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 928 | 28396 | 609884 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | TMEM67 CL E G H | 91147 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 928 | 28396 | 609884 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | TMEM67 CL E G H | 91147 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 928 | 28396 | 609884 |
HP:0002084 | HP:0006992 | Anterior basal encephalocele | 1 | ZNF423 CL E G H | 23090 | 2318 | | | | ORPHA | 0 | | 810 | 16762 | 604557 |
HP:0002084 | HP:0004423 | Cranium bifidum occultum | 1 | ZNF423 CL E G H | 23090 | 2318 | | | | ORPHA | 0 | | 810 | 16762 | 604557 |
HP:0002084 | HP:0002085 | Occipital encephalocele | 1 | ZNF423 CL E G H | 23090 | 2318 | | | | ORPHA | 0 | | 810 | 16762 | 604557 |
HP:0002084 | HP:0006888 | Meningoencephalocele | 1 | ZNF423 CL E G H | 23090 | 2318 | | | | ORPHA | 0 | | 810 | 16762 | 604557 |
HP:0002084 | HP:0011817 | Basal encephalocele | 1 | ZNF423 CL E G H | 23090 | 2318 | | | | ORPHA | 0 | | 810 | 16762 | 604557 |
HP:0002084 | HP:0011816 | Parietal encephalocele | 1 | ZNF423 CL E G H | 23090 | 2318 | | | | ORPHA | 0 | | 810 | 16762 | 604557 |
HP:0002084 | HP:0007035 | Anterior encephalocele | 1 | ZNF423 CL E G H | 23090 | 2318 | | | | ORPHA | 0 | | 810 | 16762 | 604557 |
HP:0002084 | HP:0007330 | Frontal encephalocele | 1 | ZNF423 CL E G H | 23090 | 2318 | | | | ORPHA | 0 | | 810 | 16762 | 604557 |
HP:0002084 | HP:0007115 | Orbital encephalocele | 1 | ZNF423 CL E G H | 23090 | 2318 | | | | ORPHA | 0 | | 810 | 16762 | 604557 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 0 | | 1194 | 21575 | 608894 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 0 | | 1194 | 21575 | 608894 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1194 | 21575 | 608894 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1194 | 21575 | 608894 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | ARHGAP31 CL E G H | 57514 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 394 | 29216 | 610911 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | ARHGAP31 CL E G H | 57514 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 394 | 29216 | 610911 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | ARL13B CL E G H | 200894 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 340 | 25419 | 608922 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | ARL13B CL E G H | 200894 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 340 | 25419 | 608922 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | ARL3 CL E G H | 403 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 137 | 694 | 604695 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | ARL3 CL E G H | 403 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 137 | 694 | 604695 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | ARMC9 CL E G H | 80210 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 631 | 20730 | 617612 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | ARMC9 CL E G H | 80210 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 631 | 20730 | 617612 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | B9D1 CL E G H | 27077 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 310 | 24123 | 614144 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | B9D1 CL E G H | 27077 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 310 | 24123 | 614144 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | CC2D2A CL E G H | 57545 | 2318 | | | | ORPHA | 0 | | 1525 | 29253 | 612013 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | CC2D2A CL E G H | 57545 | 2318 | | | | ORPHA | 0 | | 1525 | 29253 | 612013 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | CEP104 CL E G H | 9731 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 506 | 24866 | 616690 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | CEP104 CL E G H | 9731 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 506 | 24866 | 616690 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | CEP120 CL E G H | 153241 | 220493 | | | | ORPHA | 0 | | 433 | 26690 | 613446 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | CEP120 CL E G H | 153241 | 220493 | | | | ORPHA | 0 | | 433 | 26690 | 613446 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | CEP120 CL E G H | 153241 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 433 | 26690 | 613446 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | CEP120 CL E G H | 153241 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 433 | 26690 | 613446 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | CEP290 CL E G H | 80184 | 2318 | | | | ORPHA | 0 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | CEP290 CL E G H | 80184 | 2318 | | | | ORPHA | 0 | | 2944 | 29021 | 610142 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | CEP41 CL E G H | 95681 | 220493 | | | | ORPHA | 0 | | 435 | 12370 | 610523 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | CEP41 CL E G H | 95681 | 220493 | | | | ORPHA | 0 | | 435 | 12370 | 610523 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | CEP41 CL E G H | 95681 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 435 | 12370 | 610523 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | CEP41 CL E G H | 95681 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 435 | 12370 | 610523 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | CPLANE1 CL E G H | 65250 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1989 | 25801 | 614571 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | CPLANE1 CL E G H | 65250 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1989 | 25801 | 614571 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | CSPP1 CL E G H | 79848 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | CSPP1 CL E G H | 79848 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1074 | 26193 | 611654 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | DLL4 CL E G H | 54567 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 212 | 2910 | 605185 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | DLL4 CL E G H | 54567 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 212 | 2910 | 605185 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | DOCK6 CL E G H | 57572 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 1080 | 19189 | 614194 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | DOCK6 CL E G H | 57572 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 1080 | 19189 | 614194 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | EOGT CL E G H | 285203 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 218 | 28526 | 614789 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | EOGT CL E G H | 285203 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 218 | 28526 | 614789 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | FGFR3 CL E G H | 2261 | 93274 | | | | ORPHA | 0 | | 916 | 3690 | 134934 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | FGFR3 CL E G H | 2261 | 93274 | | | | ORPHA | 0 | | 916 | 3690 | 134934 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | FLNA CL E G H | 2316 | 90652 | | | | ORPHA | 0 | | 3033 | 3754 | 300017 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | FLNA CL E G H | 2316 | 90652 | | | | ORPHA | 0 | | 3033 | 3754 | 300017 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | FRAS1 CL E G H | 80144 | 2052 | | | | ORPHA | 0 | | 1287 | 19185 | 607830 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | FRAS1 CL E G H | 80144 | 2052 | | | | ORPHA | 0 | | 1287 | 19185 | 607830 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | FREM2 CL E G H | 341640 | 2052 | | | | ORPHA | 0 | | 1000 | 25396 | 608945 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | FREM2 CL E G H | 341640 | 2052 | | | | ORPHA | 0 | | 1000 | 25396 | 608945 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | GRIP1 CL E G H | 23426 | 2052 | | | | ORPHA | 0 | | 252 | 18708 | 604597 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | GRIP1 CL E G H | 23426 | 2052 | | | | ORPHA | 0 | | 252 | 18708 | 604597 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | HYLS1 CL E G H | 219844 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 314 | 26558 | 610693 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | HYLS1 CL E G H | 219844 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 314 | 26558 | 610693 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | INPP5E CL E G H | 56623 | 220493 | | | | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | INPP5E CL E G H | 56623 | 220493 | | | | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | INPP5E CL E G H | 56623 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | INPP5E CL E G H | 56623 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 782 | 21474 | 613037 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | KIAA0556 CL E G H | 23247 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | | 29068 | 616650 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | KIAA0556 CL E G H | 23247 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | | 29068 | 616650 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | KIAA0586 CL E G H | 9786 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | KIAA0586 CL E G H | 9786 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 1253 | 19960 | 610178 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | MKS1 CL E G H | 54903 | 220493 | | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | MKS1 CL E G H | 54903 | 220493 | | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | MKS1 CL E G H | 54903 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | MKS1 CL E G H | 54903 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | NOTCH1 CL E G H | 4851 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 3187 | 7881 | 190198 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | NOTCH1 CL E G H | 4851 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 3187 | 7881 | 190198 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | NPHP1 CL E G H | 4867 | 220497 | | | | ORPHA | 0 | | 815 | 7905 | 607100 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | NPHP1 CL E G H | 4867 | 220497 | | | | ORPHA | 0 | | 815 | 7905 | 607100 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | PIBF1 CL E G H | 10464 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 180 | 23352 | 607532 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | PIBF1 CL E G H | 10464 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 180 | 23352 | 607532 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | POLR1C CL E G H | 9533 | 861 | | | | ORPHA | 0 | | 1944 | 20194 | 610060 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | POLR1C CL E G H | 9533 | 861 | | | | ORPHA | 0 | | 1944 | 20194 | 610060 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | POLR1D CL E G H | 51082 | 861 | | | | ORPHA | 0 | | 111 | 20422 | 613715 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | POLR1D CL E G H | 51082 | 861 | | | | ORPHA | 0 | | 111 | 20422 | 613715 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | POMT2 CL E G H | 29954 | 613150 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | 613150 | C3150411 | OMIM | 0 | | 936 | 19743 | 607439 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | POMT2 CL E G H | 29954 | 613150 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | 613150 | C3150411 | OMIM | 0 | | 936 | 19743 | 607439 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | RBPJ CL E G H | 3516 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 186 | 5724 | 147183 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | RBPJ CL E G H | 3516 | 974 | Brachydactyly small stature face anomalies | | | ORPHA | 0 | | 186 | 5724 | 147183 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | RPGRIP1L CL E G H | 23322 | 220497 | | | | ORPHA | 0 | | 1494 | 29168 | 610937 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | RPGRIP1L CL E G H | 23322 | 220497 | | | | ORPHA | 0 | | 1494 | 29168 | 610937 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | TCOF1 CL E G H | 6949 | 861 | | | | ORPHA | 0 | | 695 | 11654 | 606847 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | TCOF1 CL E G H | 6949 | 861 | | | | ORPHA | 0 | | 695 | 11654 | 606847 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | TCTN1 CL E G H | 79600 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 393 | 26113 | 609863 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | TCTN1 CL E G H | 79600 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 393 | 26113 | 609863 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | TCTN2 CL E G H | 79867 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 622 | 25774 | 613846 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | TCTN2 CL E G H | 79867 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 622 | 25774 | 613846 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | TMEM138 CL E G H | 51524 | 2318 | | | | ORPHA | 0 | | 166 | 26944 | 614459 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | TMEM138 CL E G H | 51524 | 2318 | | | | ORPHA | 0 | | 166 | 26944 | 614459 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | TMEM138 CL E G H | 51524 | 614465 | Joubert syndrome 16 | 614465 | C3280906 | OMIM | 0 | | 166 | 26944 | 614459 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | TMEM138 CL E G H | 51524 | 614465 | Joubert syndrome 16 | 614465 | C3280906 | OMIM | 0 | | 166 | 26944 | 614459 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | TMEM216 CL E G H | 51259 | 2318 | | | | ORPHA | 0 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | TMEM216 CL E G H | 51259 | 2318 | | | | ORPHA | 0 | | 236 | 25018 | 613277 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | TMEM231 CL E G H | 79583 | 2318 | | | | ORPHA | 0 | | 463 | 37234 | 614949 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | TMEM231 CL E G H | 79583 | 2318 | | | | ORPHA | 0 | | 463 | 37234 | 614949 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | TMEM237 CL E G H | 65062 | 2318 | | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | TMEM237 CL E G H | 65062 | 220497 | | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | TMEM237 CL E G H | 65062 | 2318 | | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | TMEM237 CL E G H | 65062 | 220497 | | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | TMEM237 CL E G H | 65062 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | TMEM237 CL E G H | 65062 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 466 | 14432 | 614423 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | TMEM67 CL E G H | 91147 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 928 | 28396 | 609884 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | TMEM67 CL E G H | 91147 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 0 | | 928 | 28396 | 609884 |
HP:0002084 | HP:0004478 | Ethmoidal encephalocele | 2 | ZNF423 CL E G H | 23090 | 2318 | | | | ORPHA | 0 | | 810 | 16762 | 604557 |
HP:0002084 | HP:0011818 | Nasofrontal encephalocele | 2 | ZNF423 CL E G H | 23090 | 2318 | | | | ORPHA | 0 | | 810 | 16762 | 604557 |