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:0002514 | HP:0002514 | Cerebral calcification | 0 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 1122 | 225 | 146920 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | AP1S2 CL E G H | 8905 | 85335 | | | | ORPHA | 1 | | 241 | 560 | 300629 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | APP CL E G H | 351 | 100006 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ATP7A CL E G H | 538 | 198 | | | | ORPHA | 1 | | 1751 | 869 | 300011 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | BRAF CL E G H | 673 | 54595 | | | | ORPHA | 1 | | 1182 | 1097 | 164757 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | CA2 CL E G H | 760 | 2785 | | | | ORPHA | 1 | | 184 | 1373 | 611492 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | COL11A1 CL E G H | 1301 | 560 | | | | ORPHA | 1 | | 2253 | 2186 | 120280 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | CTNNB1 CL E G H | 1499 | 54595 | | | | ORPHA | 1 | | 624 | 2514 | 116806 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | CTSC CL E G H | 1075 | 678 | | | | ORPHA | 1 | | 361 | 2528 | 602365 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | DAG1 CL E G H | 1605 | 616538 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 | 616538 | C4225291 | OMIM | 1 | | 630 | 2666 | 128239 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ERCC1 CL E G H | 2067 | 1466 | | | | ORPHA | 1 | | 161 | 3433 | 126380 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ERCC2 CL E G H | 2068 | 1466 | | | | ORPHA | 1 | | 1572 | 3434 | 126340 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ERCC5 CL E G H | 2073 | 1466 | | | | ORPHA | 1 | | 491 | 3437 | 133530 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ERCC6 CL E G H | 2074 | 1466 | | | | ORPHA | 1 | | 1645 | 3438 | 609413 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | FAM20C CL E G H | 56975 | 259775 | Raine syndrome | 259775 | C1850106 | OMIM | 1 | | 462 | 22140 | 611061 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | FGFR1 CL E G H | 2260 | 2396 | | | | ORPHA | 1 | | 936 | 3688 | 136350 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | GCM2 CL E G H | 9247 | 146200 | Hypoparathyroidism familial isolated | 146200 | C1832648 | OMIM | 1 | | 194 | 4198 | 603716 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 1 | | 272 | 4274 | 121014 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 1 | | 1170 | 18873 | 606951 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | KRAS CL E G H | 3845 | 2396 | | | | ORPHA | 1 | | 480 | 6407 | 190070 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | KRIT1 CL E G H | 889 | 116860 | Cerebral cavernous malformation | 116860 | C2919945 | OMIM | 1 | | 578 | 1573 | 604214 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | MGP CL E G H | 4256 | 245150 | Keutel syndrome | 245150 | C1855607 | OMIM | 1 | | 147 | 7060 | 154870 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | OCLN CL E G H | 100506658 | 1229 | | | | ORPHA | 1 | | 138 | 8104 | 602876 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | OCLN CL E G H | 100506658 | 251290 | Band-like calcification with simplified gyration and polymicrogyria | 251290 | C3489725 | OMIM | 1 | | 138 | 8104 | 602876 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | PAH CL E G H | 5053 | 261600 | Phenylketonuria | 261600 | C0031485 | OMIM | 1 | | 1446 | 8582 | 612349 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | PDGFB CL E G H | 5155 | 1980 | | | | ORPHA | 1 | | 151 | 8800 | 190040 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | PDGFRB CL E G H | 5159 | 1980 | | | | ORPHA | 1 | | 531 | 8804 | 173410 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | PTCH1 CL E G H | 5727 | 377 | | | | ORPHA | 1 | | 4487 | 9585 | 601309 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | PTCH2 CL E G H | 8643 | 377 | | | | ORPHA | 1 | | 791 | 9586 | 603673 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | PTH CL E G H | 5741 | 146200 | Hypoparathyroidism familial isolated | 146200 | C1832648 | OMIM | 1 | | 52 | 9606 | 168450 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | QDPR CL E G H | 5860 | 261630 | Dihydropteridine reductase deficiency | 261630 | C0268465 | OMIM | 1 | | 319 | 9752 | 612676 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 1 | | 404 | 18518 | 606034 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | RNASEH2A CL E G H | 10535 | 610333 | Aicardi Goutieres syndrome 4 | 610333 | C1835912 | OMIM | 1 | | 404 | 18518 | 606034 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 1 | | 426 | 25671 | 610326 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 1 | | 307 | 24116 | 610330 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | RNASEH2C CL E G H | 84153 | 610329 | Aicardi Goutieres syndrome 3 | 610329 | C1835916 | OMIM | 1 | | 307 | 24116 | 610330 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 1 | | 746 | 15925 | 606754 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | SC5D CL E G H | 6309 | 46059 | | | | ORPHA | 1 | | 242 | 10547 | 602286 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | SLC20A2 CL E G H | 6575 | 1980 | | | | ORPHA | 1 | | 337 | 10947 | 158378 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | SLC29A3 CL E G H | 55315 | 1782 | | | | ORPHA | 1 | | 447 | 23096 | 612373 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | SNORD118 CL E G H | 727676 | 614561 | Leukoencephalopathy, brain calcifications, and cysts | 614561 | C3281200 | OMIM | 1 | | 189 | 32952 | 616663 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | SUCLA2 CL E G H | 8803 | 1933 | | | | ORPHA | 1 | | 413 | 11448 | 603921 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | SUFU CL E G H | 51684 | 377 | | | | ORPHA | 1 | | 1306 | 16466 | 607035 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TINF2 CL E G H | 26277 | 613990 | Dyskeratosis congenita, autosomal dominant, 3 | 613990 | C3151445 | OMIM | 1 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TINF2 CL E G H | 26277 | 268130 | Revesz syndrome | 268130 | C1327916 | OMIM | 1 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TREM2 CL E G H | 54209 | 2770 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TREX1 CL E G H | 11277 | 51 | | | | ORPHA | 1 | | 418 | 12269 | 606609 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TSC1 CL E G H | 7248 | 191100 | Tuberous sclerosis 1 | 191100 | C1854465 | OMIM | 1 | | 4172 | 12362 | 605284 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TSC2 CL E G H | 7249 | 613254 | Tuberous sclerosis 2 | 613254 | C1860707 | OMIM | 1 | | 9638 | 12363 | 191092 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TYROBP CL E G H | 7305 | 2770 | | | | ORPHA | 1 | | 110 | 12449 | 604142 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | USP18 CL E G H | 11274 | 617397 | Pseudo-torch syndrome 2 | 617397 | C4479376 | OMIM | 1 | | 165 | 12616 | 607057 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | XPR1 CL E G H | 9213 | 1980 | | | | ORPHA | 1 | | 234 | 12827 | 605237 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 1122 | 225 | 146920 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 1122 | 225 | 146920 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 1122 | 225 | 146920 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 1122 | 225 | 146920 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 1122 | 225 | 146920 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 1122 | 225 | 146920 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 1122 | 225 | 146920 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 1122 | 225 | 146920 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 1122 | 225 | 146920 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 1122 | 225 | 146920 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 1122 | 225 | 146920 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 1122 | 225 | 146920 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | AP1S2 CL E G H | 8905 | 85335 | | | | ORPHA | 1 | | 241 | 560 | 300629 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | AP1S2 CL E G H | 8905 | 85335 | | | | ORPHA | 1 | | 241 | 560 | 300629 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | AP1S2 CL E G H | 8905 | 85335 | | | | ORPHA | 1 | | 241 | 560 | 300629 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | AP1S2 CL E G H | 8905 | 85335 | | | | ORPHA | 1 | | 241 | 560 | 300629 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | AP1S2 CL E G H | 8905 | 85335 | | | | ORPHA | 1 | | 241 | 560 | 300629 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | AP1S2 CL E G H | 8905 | 85335 | | | | ORPHA | 1 | | 241 | 560 | 300629 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | AP1S2 CL E G H | 8905 | 85335 | | | | ORPHA | 1 | | 241 | 560 | 300629 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | AP1S2 CL E G H | 8905 | 85335 | | | | ORPHA | 1 | | 241 | 560 | 300629 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | AP1S2 CL E G H | 8905 | 85335 | | | | ORPHA | 1 | | 241 | 560 | 300629 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | AP1S2 CL E G H | 8905 | 85335 | | | | ORPHA | 1 | | 241 | 560 | 300629 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | AP1S2 CL E G H | 8905 | 85335 | | | | ORPHA | 1 | | 241 | 560 | 300629 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | AP1S2 CL E G H | 8905 | 85335 | | | | ORPHA | 1 | | 241 | 560 | 300629 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | APP CL E G H | 351 | 100006 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | APP CL E G H | 351 | 100006 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | APP CL E G H | 351 | 100006 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | APP CL E G H | 351 | 100006 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | APP CL E G H | 351 | 100006 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | APP CL E G H | 351 | 100006 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | APP CL E G H | 351 | 100006 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | APP CL E G H | 351 | 100006 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | APP CL E G H | 351 | 100006 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | APP CL E G H | 351 | 100006 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | APP CL E G H | 351 | 100006 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | APP CL E G H | 351 | 100006 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | ATP7A CL E G H | 538 | 198 | | | | ORPHA | 1 | | 1751 | 869 | 300011 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | ATP7A CL E G H | 538 | 198 | | | | ORPHA | 1 | | 1751 | 869 | 300011 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | ATP7A CL E G H | 538 | 198 | | | | ORPHA | 1 | | 1751 | 869 | 300011 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | ATP7A CL E G H | 538 | 198 | | | | ORPHA | 1 | | 1751 | 869 | 300011 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | ATP7A CL E G H | 538 | 198 | | | | ORPHA | 1 | | 1751 | 869 | 300011 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | ATP7A CL E G H | 538 | 198 | | | | ORPHA | 1 | | 1751 | 869 | 300011 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | ATP7A CL E G H | 538 | 198 | | | | ORPHA | 1 | | 1751 | 869 | 300011 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | ATP7A CL E G H | 538 | 198 | | | | ORPHA | 1 | | 1751 | 869 | 300011 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | ATP7A CL E G H | 538 | 198 | | | | ORPHA | 1 | | 1751 | 869 | 300011 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | ATP7A CL E G H | 538 | 198 | | | | ORPHA | 1 | | 1751 | 869 | 300011 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | ATP7A CL E G H | 538 | 198 | | | | ORPHA | 1 | | 1751 | 869 | 300011 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | ATP7A CL E G H | 538 | 198 | | | | ORPHA | 1 | | 1751 | 869 | 300011 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | BRAF CL E G H | 673 | 54595 | | | | ORPHA | 1 | | 1182 | 1097 | 164757 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | BRAF CL E G H | 673 | 54595 | | | | ORPHA | 1 | | 1182 | 1097 | 164757 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | BRAF CL E G H | 673 | 54595 | | | | ORPHA | 1 | | 1182 | 1097 | 164757 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | BRAF CL E G H | 673 | 54595 | | | | ORPHA | 1 | | 1182 | 1097 | 164757 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | BRAF CL E G H | 673 | 54595 | | | | ORPHA | 1 | | 1182 | 1097 | 164757 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | BRAF CL E G H | 673 | 54595 | | | | ORPHA | 1 | | 1182 | 1097 | 164757 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | BRAF CL E G H | 673 | 54595 | | | | ORPHA | 1 | | 1182 | 1097 | 164757 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | BRAF CL E G H | 673 | 54595 | | | | ORPHA | 1 | | 1182 | 1097 | 164757 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | BRAF CL E G H | 673 | 54595 | | | | ORPHA | 1 | | 1182 | 1097 | 164757 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | BRAF CL E G H | 673 | 54595 | | | | ORPHA | 1 | | 1182 | 1097 | 164757 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | BRAF CL E G H | 673 | 54595 | | | | ORPHA | 1 | | 1182 | 1097 | 164757 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | BRAF CL E G H | 673 | 54595 | | | | ORPHA | 1 | | 1182 | 1097 | 164757 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | CA2 CL E G H | 760 | 2785 | | | | ORPHA | 1 | | 184 | 1373 | 611492 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | CA2 CL E G H | 760 | 2785 | | | | ORPHA | 1 | | 184 | 1373 | 611492 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | CA2 CL E G H | 760 | 2785 | | | | ORPHA | 1 | | 184 | 1373 | 611492 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | CA2 CL E G H | 760 | 2785 | | | | ORPHA | 1 | | 184 | 1373 | 611492 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | CA2 CL E G H | 760 | 2785 | | | | ORPHA | 1 | | 184 | 1373 | 611492 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | CA2 CL E G H | 760 | 2785 | | | | ORPHA | 1 | | 184 | 1373 | 611492 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | CA2 CL E G H | 760 | 2785 | | | | ORPHA | 1 | | 184 | 1373 | 611492 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | CA2 CL E G H | 760 | 2785 | | | | ORPHA | 1 | | 184 | 1373 | 611492 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | CA2 CL E G H | 760 | 2785 | | | | ORPHA | 1 | | 184 | 1373 | 611492 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | CA2 CL E G H | 760 | 2785 | | | | ORPHA | 1 | | 184 | 1373 | 611492 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | CA2 CL E G H | 760 | 2785 | | | | ORPHA | 1 | | 184 | 1373 | 611492 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | CA2 CL E G H | 760 | 2785 | | | | ORPHA | 1 | | 184 | 1373 | 611492 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | COL11A1 CL E G H | 1301 | 560 | | | | ORPHA | 1 | | 2253 | 2186 | 120280 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | COL11A1 CL E G H | 1301 | 560 | | | | ORPHA | 1 | | 2253 | 2186 | 120280 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | COL11A1 CL E G H | 1301 | 560 | | | | ORPHA | 1 | | 2253 | 2186 | 120280 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | COL11A1 CL E G H | 1301 | 560 | | | | ORPHA | 1 | | 2253 | 2186 | 120280 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | COL11A1 CL E G H | 1301 | 560 | | | | ORPHA | 1 | | 2253 | 2186 | 120280 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | COL11A1 CL E G H | 1301 | 560 | | | | ORPHA | 1 | | 2253 | 2186 | 120280 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | COL11A1 CL E G H | 1301 | 560 | | | | ORPHA | 1 | | 2253 | 2186 | 120280 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | COL11A1 CL E G H | 1301 | 560 | | | | ORPHA | 1 | | 2253 | 2186 | 120280 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | COL11A1 CL E G H | 1301 | 560 | | | | ORPHA | 1 | | 2253 | 2186 | 120280 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | COL11A1 CL E G H | 1301 | 560 | | | | ORPHA | 1 | | 2253 | 2186 | 120280 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | COL11A1 CL E G H | 1301 | 560 | | | | ORPHA | 1 | | 2253 | 2186 | 120280 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | COL11A1 CL E G H | 1301 | 560 | | | | ORPHA | 1 | | 2253 | 2186 | 120280 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | CTNNB1 CL E G H | 1499 | 54595 | | | | ORPHA | 1 | | 624 | 2514 | 116806 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | CTNNB1 CL E G H | 1499 | 54595 | | | | ORPHA | 1 | | 624 | 2514 | 116806 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | CTNNB1 CL E G H | 1499 | 54595 | | | | ORPHA | 1 | | 624 | 2514 | 116806 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | CTNNB1 CL E G H | 1499 | 54595 | | | | ORPHA | 1 | | 624 | 2514 | 116806 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | CTNNB1 CL E G H | 1499 | 54595 | | | | ORPHA | 1 | | 624 | 2514 | 116806 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | CTNNB1 CL E G H | 1499 | 54595 | | | | ORPHA | 1 | | 624 | 2514 | 116806 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | CTNNB1 CL E G H | 1499 | 54595 | | | | ORPHA | 1 | | 624 | 2514 | 116806 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | CTNNB1 CL E G H | 1499 | 54595 | | | | ORPHA | 1 | | 624 | 2514 | 116806 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | CTNNB1 CL E G H | 1499 | 54595 | | | | ORPHA | 1 | | 624 | 2514 | 116806 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | CTNNB1 CL E G H | 1499 | 54595 | | | | ORPHA | 1 | | 624 | 2514 | 116806 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | CTNNB1 CL E G H | 1499 | 54595 | | | | ORPHA | 1 | | 624 | 2514 | 116806 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | CTNNB1 CL E G H | 1499 | 54595 | | | | ORPHA | 1 | | 624 | 2514 | 116806 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | CTSC CL E G H | 1075 | 678 | | | | ORPHA | 1 | | 361 | 2528 | 602365 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | CTSC CL E G H | 1075 | 678 | | | | ORPHA | 1 | | 361 | 2528 | 602365 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | CTSC CL E G H | 1075 | 678 | | | | ORPHA | 1 | | 361 | 2528 | 602365 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | CTSC CL E G H | 1075 | 678 | | | | ORPHA | 1 | | 361 | 2528 | 602365 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | CTSC CL E G H | 1075 | 678 | | | | ORPHA | 1 | | 361 | 2528 | 602365 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | CTSC CL E G H | 1075 | 678 | | | | ORPHA | 1 | | 361 | 2528 | 602365 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | CTSC CL E G H | 1075 | 678 | | | | ORPHA | 1 | | 361 | 2528 | 602365 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | CTSC CL E G H | 1075 | 678 | | | | ORPHA | 1 | | 361 | 2528 | 602365 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | CTSC CL E G H | 1075 | 678 | | | | ORPHA | 1 | | 361 | 2528 | 602365 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | CTSC CL E G H | 1075 | 678 | | | | ORPHA | 1 | | 361 | 2528 | 602365 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | CTSC CL E G H | 1075 | 678 | | | | ORPHA | 1 | | 361 | 2528 | 602365 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | CTSC CL E G H | 1075 | 678 | | | | ORPHA | 1 | | 361 | 2528 | 602365 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | DAG1 CL E G H | 1605 | 616538 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 | 616538 | C4225291 | OMIM | 1 | | 630 | 2666 | 128239 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | DAG1 CL E G H | 1605 | 616538 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 | 616538 | C4225291 | OMIM | 1 | | 630 | 2666 | 128239 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | DAG1 CL E G H | 1605 | 616538 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 | 616538 | C4225291 | OMIM | 1 | | 630 | 2666 | 128239 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | DAG1 CL E G H | 1605 | 616538 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 | 616538 | C4225291 | OMIM | 1 | | 630 | 2666 | 128239 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | DAG1 CL E G H | 1605 | 616538 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 | 616538 | C4225291 | OMIM | 1 | | 630 | 2666 | 128239 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | DAG1 CL E G H | 1605 | 616538 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 | 616538 | C4225291 | OMIM | 1 | | 630 | 2666 | 128239 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | DAG1 CL E G H | 1605 | 616538 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 | 616538 | C4225291 | OMIM | 1 | | 630 | 2666 | 128239 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | DAG1 CL E G H | 1605 | 616538 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 | 616538 | C4225291 | OMIM | 1 | | 630 | 2666 | 128239 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | DAG1 CL E G H | 1605 | 616538 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 | 616538 | C4225291 | OMIM | 1 | | 630 | 2666 | 128239 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | DAG1 CL E G H | 1605 | 616538 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 | 616538 | C4225291 | OMIM | 1 | | 630 | 2666 | 128239 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | DAG1 CL E G H | 1605 | 616538 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 | 616538 | C4225291 | OMIM | 1 | | 630 | 2666 | 128239 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | DAG1 CL E G H | 1605 | 616538 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 | 616538 | C4225291 | OMIM | 1 | | 630 | 2666 | 128239 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | ERCC1 CL E G H | 2067 | 1466 | | | | ORPHA | 1 | | 161 | 3433 | 126380 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | ERCC1 CL E G H | 2067 | 1466 | | | | ORPHA | 1 | | 161 | 3433 | 126380 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | ERCC1 CL E G H | 2067 | 1466 | | | | ORPHA | 1 | | 161 | 3433 | 126380 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | ERCC1 CL E G H | 2067 | 1466 | | | | ORPHA | 1 | | 161 | 3433 | 126380 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | ERCC1 CL E G H | 2067 | 1466 | | | | ORPHA | 1 | | 161 | 3433 | 126380 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | ERCC1 CL E G H | 2067 | 1466 | | | | ORPHA | 1 | | 161 | 3433 | 126380 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | ERCC1 CL E G H | 2067 | 1466 | | | | ORPHA | 1 | | 161 | 3433 | 126380 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | ERCC1 CL E G H | 2067 | 1466 | | | | ORPHA | 1 | | 161 | 3433 | 126380 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | ERCC1 CL E G H | 2067 | 1466 | | | | ORPHA | 1 | | 161 | 3433 | 126380 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | ERCC1 CL E G H | 2067 | 1466 | | | | ORPHA | 1 | | 161 | 3433 | 126380 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | ERCC1 CL E G H | 2067 | 1466 | | | | ORPHA | 1 | | 161 | 3433 | 126380 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | ERCC1 CL E G H | 2067 | 1466 | | | | ORPHA | 1 | | 161 | 3433 | 126380 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | ERCC2 CL E G H | 2068 | 1466 | | | | ORPHA | 1 | | 1572 | 3434 | 126340 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | ERCC2 CL E G H | 2068 | 1466 | | | | ORPHA | 1 | | 1572 | 3434 | 126340 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | ERCC2 CL E G H | 2068 | 1466 | | | | ORPHA | 1 | | 1572 | 3434 | 126340 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | ERCC2 CL E G H | 2068 | 1466 | | | | ORPHA | 1 | | 1572 | 3434 | 126340 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | ERCC2 CL E G H | 2068 | 1466 | | | | ORPHA | 1 | | 1572 | 3434 | 126340 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | ERCC2 CL E G H | 2068 | 1466 | | | | ORPHA | 1 | | 1572 | 3434 | 126340 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | ERCC2 CL E G H | 2068 | 1466 | | | | ORPHA | 1 | | 1572 | 3434 | 126340 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | ERCC2 CL E G H | 2068 | 1466 | | | | ORPHA | 1 | | 1572 | 3434 | 126340 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | ERCC2 CL E G H | 2068 | 1466 | | | | ORPHA | 1 | | 1572 | 3434 | 126340 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | ERCC2 CL E G H | 2068 | 1466 | | | | ORPHA | 1 | | 1572 | 3434 | 126340 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | ERCC2 CL E G H | 2068 | 1466 | | | | ORPHA | 1 | | 1572 | 3434 | 126340 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | ERCC2 CL E G H | 2068 | 1466 | | | | ORPHA | 1 | | 1572 | 3434 | 126340 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | ERCC5 CL E G H | 2073 | 1466 | | | | ORPHA | 1 | | 491 | 3437 | 133530 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | ERCC5 CL E G H | 2073 | 1466 | | | | ORPHA | 1 | | 491 | 3437 | 133530 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | ERCC5 CL E G H | 2073 | 1466 | | | | ORPHA | 1 | | 491 | 3437 | 133530 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | ERCC5 CL E G H | 2073 | 1466 | | | | ORPHA | 1 | | 491 | 3437 | 133530 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | ERCC5 CL E G H | 2073 | 1466 | | | | ORPHA | 1 | | 491 | 3437 | 133530 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | ERCC5 CL E G H | 2073 | 1466 | | | | ORPHA | 1 | | 491 | 3437 | 133530 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | ERCC5 CL E G H | 2073 | 1466 | | | | ORPHA | 1 | | 491 | 3437 | 133530 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | ERCC5 CL E G H | 2073 | 1466 | | | | ORPHA | 1 | | 491 | 3437 | 133530 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | ERCC5 CL E G H | 2073 | 1466 | | | | ORPHA | 1 | | 491 | 3437 | 133530 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | ERCC5 CL E G H | 2073 | 1466 | | | | ORPHA | 1 | | 491 | 3437 | 133530 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | ERCC5 CL E G H | 2073 | 1466 | | | | ORPHA | 1 | | 491 | 3437 | 133530 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | ERCC5 CL E G H | 2073 | 1466 | | | | ORPHA | 1 | | 491 | 3437 | 133530 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | ERCC6 CL E G H | 2074 | 1466 | | | | ORPHA | 1 | | 1645 | 3438 | 609413 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | ERCC6 CL E G H | 2074 | 1466 | | | | ORPHA | 1 | | 1645 | 3438 | 609413 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | ERCC6 CL E G H | 2074 | 1466 | | | | ORPHA | 1 | | 1645 | 3438 | 609413 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | ERCC6 CL E G H | 2074 | 1466 | | | | ORPHA | 1 | | 1645 | 3438 | 609413 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | ERCC6 CL E G H | 2074 | 1466 | | | | ORPHA | 1 | | 1645 | 3438 | 609413 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | ERCC6 CL E G H | 2074 | 1466 | | | | ORPHA | 1 | | 1645 | 3438 | 609413 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | ERCC6 CL E G H | 2074 | 1466 | | | | ORPHA | 1 | | 1645 | 3438 | 609413 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | ERCC6 CL E G H | 2074 | 1466 | | | | ORPHA | 1 | | 1645 | 3438 | 609413 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | ERCC6 CL E G H | 2074 | 1466 | | | | ORPHA | 1 | | 1645 | 3438 | 609413 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | ERCC6 CL E G H | 2074 | 1466 | | | | ORPHA | 1 | | 1645 | 3438 | 609413 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | ERCC6 CL E G H | 2074 | 1466 | | | | ORPHA | 1 | | 1645 | 3438 | 609413 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | ERCC6 CL E G H | 2074 | 1466 | | | | ORPHA | 1 | | 1645 | 3438 | 609413 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | FAM20C CL E G H | 56975 | 259775 | Raine syndrome | 259775 | C1850106 | OMIM | 1 | | 462 | 22140 | 611061 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | FAM20C CL E G H | 56975 | 259775 | Raine syndrome | 259775 | C1850106 | OMIM | 1 | | 462 | 22140 | 611061 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | FAM20C CL E G H | 56975 | 259775 | Raine syndrome | 259775 | C1850106 | OMIM | 1 | | 462 | 22140 | 611061 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | FAM20C CL E G H | 56975 | 259775 | Raine syndrome | 259775 | C1850106 | OMIM | 1 | | 462 | 22140 | 611061 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | FAM20C CL E G H | 56975 | 259775 | Raine syndrome | 259775 | C1850106 | OMIM | 1 | | 462 | 22140 | 611061 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | FAM20C CL E G H | 56975 | 259775 | Raine syndrome | 259775 | C1850106 | OMIM | 1 | | 462 | 22140 | 611061 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | FAM20C CL E G H | 56975 | 259775 | Raine syndrome | 259775 | C1850106 | OMIM | 1 | | 462 | 22140 | 611061 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | FAM20C CL E G H | 56975 | 259775 | Raine syndrome | 259775 | C1850106 | OMIM | 1 | | 462 | 22140 | 611061 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | FAM20C CL E G H | 56975 | 259775 | Raine syndrome | 259775 | C1850106 | OMIM | 1 | | 462 | 22140 | 611061 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | FAM20C CL E G H | 56975 | 259775 | Raine syndrome | 259775 | C1850106 | OMIM | 1 | | 462 | 22140 | 611061 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | FAM20C CL E G H | 56975 | 259775 | Raine syndrome | 259775 | C1850106 | OMIM | 1 | | 462 | 22140 | 611061 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | FAM20C CL E G H | 56975 | 259775 | Raine syndrome | 259775 | C1850106 | OMIM | 1 | | 462 | 22140 | 611061 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | FGFR1 CL E G H | 2260 | 2396 | | | | ORPHA | 1 | | 936 | 3688 | 136350 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | FGFR1 CL E G H | 2260 | 2396 | | | | ORPHA | 1 | | 936 | 3688 | 136350 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | FGFR1 CL E G H | 2260 | 2396 | | | | ORPHA | 1 | | 936 | 3688 | 136350 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | FGFR1 CL E G H | 2260 | 2396 | | | | ORPHA | 1 | | 936 | 3688 | 136350 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | FGFR1 CL E G H | 2260 | 2396 | | | | ORPHA | 1 | | 936 | 3688 | 136350 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | FGFR1 CL E G H | 2260 | 2396 | | | | ORPHA | 1 | | 936 | 3688 | 136350 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | FGFR1 CL E G H | 2260 | 2396 | | | | ORPHA | 1 | | 936 | 3688 | 136350 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | FGFR1 CL E G H | 2260 | 2396 | | | | ORPHA | 1 | | 936 | 3688 | 136350 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | FGFR1 CL E G H | 2260 | 2396 | | | | ORPHA | 1 | | 936 | 3688 | 136350 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | FGFR1 CL E G H | 2260 | 2396 | | | | ORPHA | 1 | | 936 | 3688 | 136350 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | FGFR1 CL E G H | 2260 | 2396 | | | | ORPHA | 1 | | 936 | 3688 | 136350 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | FGFR1 CL E G H | 2260 | 2396 | | | | ORPHA | 1 | | 936 | 3688 | 136350 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | GCM2 CL E G H | 9247 | 146200 | Hypoparathyroidism familial isolated | 146200 | C1832648 | OMIM | 1 | | 194 | 4198 | 603716 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | GCM2 CL E G H | 9247 | 146200 | Hypoparathyroidism familial isolated | 146200 | C1832648 | OMIM | 1 | | 194 | 4198 | 603716 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | GCM2 CL E G H | 9247 | 146200 | Hypoparathyroidism familial isolated | 146200 | C1832648 | OMIM | 1 | | 194 | 4198 | 603716 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | GCM2 CL E G H | 9247 | 146200 | Hypoparathyroidism familial isolated | 146200 | C1832648 | OMIM | 1 | | 194 | 4198 | 603716 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | GCM2 CL E G H | 9247 | 146200 | Hypoparathyroidism familial isolated | 146200 | C1832648 | OMIM | 1 | | 194 | 4198 | 603716 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | GCM2 CL E G H | 9247 | 146200 | Hypoparathyroidism familial isolated | 146200 | C1832648 | OMIM | 1 | | 194 | 4198 | 603716 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | GCM2 CL E G H | 9247 | 146200 | Hypoparathyroidism familial isolated | 146200 | C1832648 | OMIM | 1 | | 194 | 4198 | 603716 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | GCM2 CL E G H | 9247 | 146200 | Hypoparathyroidism familial isolated | 146200 | C1832648 | OMIM | 1 | | 194 | 4198 | 603716 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | GCM2 CL E G H | 9247 | 146200 | Hypoparathyroidism familial isolated | 146200 | C1832648 | OMIM | 1 | | 194 | 4198 | 603716 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | GCM2 CL E G H | 9247 | 146200 | Hypoparathyroidism familial isolated | 146200 | C1832648 | OMIM | 1 | | 194 | 4198 | 603716 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | GCM2 CL E G H | 9247 | 146200 | Hypoparathyroidism familial isolated | 146200 | C1832648 | OMIM | 1 | | 194 | 4198 | 603716 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | GCM2 CL E G H | 9247 | 146200 | Hypoparathyroidism familial isolated | 146200 | C1832648 | OMIM | 1 | | 194 | 4198 | 603716 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 1 | | 272 | 4274 | 121014 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 1 | | 272 | 4274 | 121014 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 1 | | 272 | 4274 | 121014 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 1 | | 272 | 4274 | 121014 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 1 | | 272 | 4274 | 121014 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 1 | | 272 | 4274 | 121014 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 1 | | 272 | 4274 | 121014 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 1 | | 272 | 4274 | 121014 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 1 | | 272 | 4274 | 121014 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 1 | | 272 | 4274 | 121014 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 1 | | 272 | 4274 | 121014 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 1 | | 272 | 4274 | 121014 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 1 | | 1170 | 18873 | 606951 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 1 | | 1170 | 18873 | 606951 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 1 | | 1170 | 18873 | 606951 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 1 | | 1170 | 18873 | 606951 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 1 | | 1170 | 18873 | 606951 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 1 | | 1170 | 18873 | 606951 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 1 | | 1170 | 18873 | 606951 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 1 | | 1170 | 18873 | 606951 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 1 | | 1170 | 18873 | 606951 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 1 | | 1170 | 18873 | 606951 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 1 | | 1170 | 18873 | 606951 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 1 | | 1170 | 18873 | 606951 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | KRAS CL E G H | 3845 | 2396 | | | | ORPHA | 1 | | 480 | 6407 | 190070 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | KRAS CL E G H | 3845 | 2396 | | | | ORPHA | 1 | | 480 | 6407 | 190070 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | KRAS CL E G H | 3845 | 2396 | | | | ORPHA | 1 | | 480 | 6407 | 190070 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | KRAS CL E G H | 3845 | 2396 | | | | ORPHA | 1 | | 480 | 6407 | 190070 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | KRAS CL E G H | 3845 | 2396 | | | | ORPHA | 1 | | 480 | 6407 | 190070 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | KRAS CL E G H | 3845 | 2396 | | | | ORPHA | 1 | | 480 | 6407 | 190070 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | KRAS CL E G H | 3845 | 2396 | | | | ORPHA | 1 | | 480 | 6407 | 190070 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | KRAS CL E G H | 3845 | 2396 | | | | ORPHA | 1 | | 480 | 6407 | 190070 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | KRAS CL E G H | 3845 | 2396 | | | | ORPHA | 1 | | 480 | 6407 | 190070 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | KRAS CL E G H | 3845 | 2396 | | | | ORPHA | 1 | | 480 | 6407 | 190070 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | KRAS CL E G H | 3845 | 2396 | | | | ORPHA | 1 | | 480 | 6407 | 190070 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | KRAS CL E G H | 3845 | 2396 | | | | ORPHA | 1 | | 480 | 6407 | 190070 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | KRIT1 CL E G H | 889 | 116860 | Cerebral cavernous malformation | 116860 | C2919945 | OMIM | 1 | | 578 | 1573 | 604214 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | KRIT1 CL E G H | 889 | 116860 | Cerebral cavernous malformation | 116860 | C2919945 | OMIM | 1 | | 578 | 1573 | 604214 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | KRIT1 CL E G H | 889 | 116860 | Cerebral cavernous malformation | 116860 | C2919945 | OMIM | 1 | | 578 | 1573 | 604214 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | KRIT1 CL E G H | 889 | 116860 | Cerebral cavernous malformation | 116860 | C2919945 | OMIM | 1 | | 578 | 1573 | 604214 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | KRIT1 CL E G H | 889 | 116860 | Cerebral cavernous malformation | 116860 | C2919945 | OMIM | 1 | | 578 | 1573 | 604214 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | KRIT1 CL E G H | 889 | 116860 | Cerebral cavernous malformation | 116860 | C2919945 | OMIM | 1 | | 578 | 1573 | 604214 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | KRIT1 CL E G H | 889 | 116860 | Cerebral cavernous malformation | 116860 | C2919945 | OMIM | 1 | | 578 | 1573 | 604214 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | KRIT1 CL E G H | 889 | 116860 | Cerebral cavernous malformation | 116860 | C2919945 | OMIM | 1 | | 578 | 1573 | 604214 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | KRIT1 CL E G H | 889 | 116860 | Cerebral cavernous malformation | 116860 | C2919945 | OMIM | 1 | | 578 | 1573 | 604214 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | KRIT1 CL E G H | 889 | 116860 | Cerebral cavernous malformation | 116860 | C2919945 | OMIM | 1 | | 578 | 1573 | 604214 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | KRIT1 CL E G H | 889 | 116860 | Cerebral cavernous malformation | 116860 | C2919945 | OMIM | 1 | | 578 | 1573 | 604214 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | KRIT1 CL E G H | 889 | 116860 | Cerebral cavernous malformation | 116860 | C2919945 | OMIM | 1 | | 578 | 1573 | 604214 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | MGP CL E G H | 4256 | 245150 | Keutel syndrome | 245150 | C1855607 | OMIM | 1 | | 147 | 7060 | 154870 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | MGP CL E G H | 4256 | 245150 | Keutel syndrome | 245150 | C1855607 | OMIM | 1 | | 147 | 7060 | 154870 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | MGP CL E G H | 4256 | 245150 | Keutel syndrome | 245150 | C1855607 | OMIM | 1 | | 147 | 7060 | 154870 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | MGP CL E G H | 4256 | 245150 | Keutel syndrome | 245150 | C1855607 | OMIM | 1 | | 147 | 7060 | 154870 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | MGP CL E G H | 4256 | 245150 | Keutel syndrome | 245150 | C1855607 | OMIM | 1 | | 147 | 7060 | 154870 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | MGP CL E G H | 4256 | 245150 | Keutel syndrome | 245150 | C1855607 | OMIM | 1 | | 147 | 7060 | 154870 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | MGP CL E G H | 4256 | 245150 | Keutel syndrome | 245150 | C1855607 | OMIM | 1 | | 147 | 7060 | 154870 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | MGP CL E G H | 4256 | 245150 | Keutel syndrome | 245150 | C1855607 | OMIM | 1 | | 147 | 7060 | 154870 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | MGP CL E G H | 4256 | 245150 | Keutel syndrome | 245150 | C1855607 | OMIM | 1 | | 147 | 7060 | 154870 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | MGP CL E G H | 4256 | 245150 | Keutel syndrome | 245150 | C1855607 | OMIM | 1 | | 147 | 7060 | 154870 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | MGP CL E G H | 4256 | 245150 | Keutel syndrome | 245150 | C1855607 | OMIM | 1 | | 147 | 7060 | 154870 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | MGP CL E G H | 4256 | 245150 | Keutel syndrome | 245150 | C1855607 | OMIM | 1 | | 147 | 7060 | 154870 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | OCLN CL E G H | 100506658 | 1229 | | | | ORPHA | 1 | | 138 | 8104 | 602876 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | OCLN CL E G H | 100506658 | 1229 | | | | ORPHA | 1 | | 138 | 8104 | 602876 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | OCLN CL E G H | 100506658 | 1229 | | | | ORPHA | 1 | | 138 | 8104 | 602876 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | OCLN CL E G H | 100506658 | 1229 | | | | ORPHA | 1 | | 138 | 8104 | 602876 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | OCLN CL E G H | 100506658 | 1229 | | | | ORPHA | 1 | | 138 | 8104 | 602876 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | OCLN CL E G H | 100506658 | 1229 | | | | ORPHA | 1 | | 138 | 8104 | 602876 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | OCLN CL E G H | 100506658 | 1229 | | | | ORPHA | 1 | | 138 | 8104 | 602876 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | OCLN CL E G H | 100506658 | 1229 | | | | ORPHA | 1 | | 138 | 8104 | 602876 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | OCLN CL E G H | 100506658 | 1229 | | | | ORPHA | 1 | | 138 | 8104 | 602876 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | OCLN CL E G H | 100506658 | 1229 | | | | ORPHA | 1 | | 138 | 8104 | 602876 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | OCLN CL E G H | 100506658 | 1229 | | | | ORPHA | 1 | | 138 | 8104 | 602876 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | OCLN CL E G H | 100506658 | 1229 | | | | ORPHA | 1 | | 138 | 8104 | 602876 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | OCLN CL E G H | 100506658 | 251290 | Band-like calcification with simplified gyration and polymicrogyria | 251290 | C3489725 | OMIM | 1 | | 138 | 8104 | 602876 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | OCLN CL E G H | 100506658 | 251290 | Band-like calcification with simplified gyration and polymicrogyria | 251290 | C3489725 | OMIM | 1 | | 138 | 8104 | 602876 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | OCLN CL E G H | 100506658 | 251290 | Band-like calcification with simplified gyration and polymicrogyria | 251290 | C3489725 | OMIM | 1 | | 138 | 8104 | 602876 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | OCLN CL E G H | 100506658 | 251290 | Band-like calcification with simplified gyration and polymicrogyria | 251290 | C3489725 | OMIM | 1 | | 138 | 8104 | 602876 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | OCLN CL E G H | 100506658 | 251290 | Band-like calcification with simplified gyration and polymicrogyria | 251290 | C3489725 | OMIM | 1 | | 138 | 8104 | 602876 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | OCLN CL E G H | 100506658 | 251290 | Band-like calcification with simplified gyration and polymicrogyria | 251290 | C3489725 | OMIM | 1 | | 138 | 8104 | 602876 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | OCLN CL E G H | 100506658 | 251290 | Band-like calcification with simplified gyration and polymicrogyria | 251290 | C3489725 | OMIM | 1 | | 138 | 8104 | 602876 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | OCLN CL E G H | 100506658 | 251290 | Band-like calcification with simplified gyration and polymicrogyria | 251290 | C3489725 | OMIM | 1 | | 138 | 8104 | 602876 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | OCLN CL E G H | 100506658 | 251290 | Band-like calcification with simplified gyration and polymicrogyria | 251290 | C3489725 | OMIM | 1 | | 138 | 8104 | 602876 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | OCLN CL E G H | 100506658 | 251290 | Band-like calcification with simplified gyration and polymicrogyria | 251290 | C3489725 | OMIM | 1 | | 138 | 8104 | 602876 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | OCLN CL E G H | 100506658 | 251290 | Band-like calcification with simplified gyration and polymicrogyria | 251290 | C3489725 | OMIM | 1 | | 138 | 8104 | 602876 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | OCLN CL E G H | 100506658 | 251290 | Band-like calcification with simplified gyration and polymicrogyria | 251290 | C3489725 | OMIM | 1 | | 138 | 8104 | 602876 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | PAH CL E G H | 5053 | 261600 | Phenylketonuria | 261600 | C0031485 | OMIM | 1 | | 1446 | 8582 | 612349 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | PAH CL E G H | 5053 | 261600 | Phenylketonuria | 261600 | C0031485 | OMIM | 1 | | 1446 | 8582 | 612349 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | PAH CL E G H | 5053 | 261600 | Phenylketonuria | 261600 | C0031485 | OMIM | 1 | | 1446 | 8582 | 612349 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | PAH CL E G H | 5053 | 261600 | Phenylketonuria | 261600 | C0031485 | OMIM | 1 | | 1446 | 8582 | 612349 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | PAH CL E G H | 5053 | 261600 | Phenylketonuria | 261600 | C0031485 | OMIM | 1 | | 1446 | 8582 | 612349 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | PAH CL E G H | 5053 | 261600 | Phenylketonuria | 261600 | C0031485 | OMIM | 1 | | 1446 | 8582 | 612349 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | PAH CL E G H | 5053 | 261600 | Phenylketonuria | 261600 | C0031485 | OMIM | 1 | | 1446 | 8582 | 612349 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | PAH CL E G H | 5053 | 261600 | Phenylketonuria | 261600 | C0031485 | OMIM | 1 | | 1446 | 8582 | 612349 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | PAH CL E G H | 5053 | 261600 | Phenylketonuria | 261600 | C0031485 | OMIM | 1 | | 1446 | 8582 | 612349 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | PAH CL E G H | 5053 | 261600 | Phenylketonuria | 261600 | C0031485 | OMIM | 1 | | 1446 | 8582 | 612349 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | PAH CL E G H | 5053 | 261600 | Phenylketonuria | 261600 | C0031485 | OMIM | 1 | | 1446 | 8582 | 612349 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | PAH CL E G H | 5053 | 261600 | Phenylketonuria | 261600 | C0031485 | OMIM | 1 | | 1446 | 8582 | 612349 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | PDGFB CL E G H | 5155 | 1980 | | | | ORPHA | 1 | | 151 | 8800 | 190040 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | PDGFB CL E G H | 5155 | 1980 | | | | ORPHA | 1 | | 151 | 8800 | 190040 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | PDGFB CL E G H | 5155 | 1980 | | | | ORPHA | 1 | | 151 | 8800 | 190040 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | PDGFB CL E G H | 5155 | 1980 | | | | ORPHA | 1 | | 151 | 8800 | 190040 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | PDGFB CL E G H | 5155 | 1980 | | | | ORPHA | 1 | | 151 | 8800 | 190040 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | PDGFB CL E G H | 5155 | 1980 | | | | ORPHA | 1 | | 151 | 8800 | 190040 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | PDGFB CL E G H | 5155 | 1980 | | | | ORPHA | 1 | | 151 | 8800 | 190040 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | PDGFB CL E G H | 5155 | 1980 | | | | ORPHA | 1 | | 151 | 8800 | 190040 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | PDGFB CL E G H | 5155 | 1980 | | | | ORPHA | 1 | | 151 | 8800 | 190040 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | PDGFB CL E G H | 5155 | 1980 | | | | ORPHA | 1 | | 151 | 8800 | 190040 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | PDGFB CL E G H | 5155 | 1980 | | | | ORPHA | 1 | | 151 | 8800 | 190040 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | PDGFB CL E G H | 5155 | 1980 | | | | ORPHA | 1 | | 151 | 8800 | 190040 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | PDGFRB CL E G H | 5159 | 1980 | | | | ORPHA | 1 | | 531 | 8804 | 173410 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | PDGFRB CL E G H | 5159 | 1980 | | | | ORPHA | 1 | | 531 | 8804 | 173410 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | PDGFRB CL E G H | 5159 | 1980 | | | | ORPHA | 1 | | 531 | 8804 | 173410 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | PDGFRB CL E G H | 5159 | 1980 | | | | ORPHA | 1 | | 531 | 8804 | 173410 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | PDGFRB CL E G H | 5159 | 1980 | | | | ORPHA | 1 | | 531 | 8804 | 173410 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | PDGFRB CL E G H | 5159 | 1980 | | | | ORPHA | 1 | | 531 | 8804 | 173410 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | PDGFRB CL E G H | 5159 | 1980 | | | | ORPHA | 1 | | 531 | 8804 | 173410 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | PDGFRB CL E G H | 5159 | 1980 | | | | ORPHA | 1 | | 531 | 8804 | 173410 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | PDGFRB CL E G H | 5159 | 1980 | | | | ORPHA | 1 | | 531 | 8804 | 173410 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | PDGFRB CL E G H | 5159 | 1980 | | | | ORPHA | 1 | | 531 | 8804 | 173410 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | PDGFRB CL E G H | 5159 | 1980 | | | | ORPHA | 1 | | 531 | 8804 | 173410 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | PDGFRB CL E G H | 5159 | 1980 | | | | ORPHA | 1 | | 531 | 8804 | 173410 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | PTCH1 CL E G H | 5727 | 377 | | | | ORPHA | 1 | | 4487 | 9585 | 601309 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | PTCH1 CL E G H | 5727 | 377 | | | | ORPHA | 1 | | 4487 | 9585 | 601309 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | PTCH1 CL E G H | 5727 | 377 | | | | ORPHA | 1 | | 4487 | 9585 | 601309 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | PTCH1 CL E G H | 5727 | 377 | | | | ORPHA | 1 | | 4487 | 9585 | 601309 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | PTCH1 CL E G H | 5727 | 377 | | | | ORPHA | 1 | | 4487 | 9585 | 601309 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | PTCH1 CL E G H | 5727 | 377 | | | | ORPHA | 1 | | 4487 | 9585 | 601309 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | PTCH1 CL E G H | 5727 | 377 | | | | ORPHA | 1 | | 4487 | 9585 | 601309 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | PTCH1 CL E G H | 5727 | 377 | | | | ORPHA | 1 | | 4487 | 9585 | 601309 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | PTCH1 CL E G H | 5727 | 377 | | | | ORPHA | 1 | | 4487 | 9585 | 601309 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | PTCH1 CL E G H | 5727 | 377 | | | | ORPHA | 1 | | 4487 | 9585 | 601309 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | PTCH1 CL E G H | 5727 | 377 | | | | ORPHA | 1 | | 4487 | 9585 | 601309 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | PTCH1 CL E G H | 5727 | 377 | | | | ORPHA | 1 | | 4487 | 9585 | 601309 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | PTCH2 CL E G H | 8643 | 377 | | | | ORPHA | 1 | | 791 | 9586 | 603673 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | PTCH2 CL E G H | 8643 | 377 | | | | ORPHA | 1 | | 791 | 9586 | 603673 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | PTCH2 CL E G H | 8643 | 377 | | | | ORPHA | 1 | | 791 | 9586 | 603673 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | PTCH2 CL E G H | 8643 | 377 | | | | ORPHA | 1 | | 791 | 9586 | 603673 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | PTCH2 CL E G H | 8643 | 377 | | | | ORPHA | 1 | | 791 | 9586 | 603673 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | PTCH2 CL E G H | 8643 | 377 | | | | ORPHA | 1 | | 791 | 9586 | 603673 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | PTCH2 CL E G H | 8643 | 377 | | | | ORPHA | 1 | | 791 | 9586 | 603673 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | PTCH2 CL E G H | 8643 | 377 | | | | ORPHA | 1 | | 791 | 9586 | 603673 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | PTCH2 CL E G H | 8643 | 377 | | | | ORPHA | 1 | | 791 | 9586 | 603673 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | PTCH2 CL E G H | 8643 | 377 | | | | ORPHA | 1 | | 791 | 9586 | 603673 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | PTCH2 CL E G H | 8643 | 377 | | | | ORPHA | 1 | | 791 | 9586 | 603673 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | PTCH2 CL E G H | 8643 | 377 | | | | ORPHA | 1 | | 791 | 9586 | 603673 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | PTH CL E G H | 5741 | 146200 | Hypoparathyroidism familial isolated | 146200 | C1832648 | OMIM | 1 | | 52 | 9606 | 168450 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | PTH CL E G H | 5741 | 146200 | Hypoparathyroidism familial isolated | 146200 | C1832648 | OMIM | 1 | | 52 | 9606 | 168450 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | PTH CL E G H | 5741 | 146200 | Hypoparathyroidism familial isolated | 146200 | C1832648 | OMIM | 1 | | 52 | 9606 | 168450 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | PTH CL E G H | 5741 | 146200 | Hypoparathyroidism familial isolated | 146200 | C1832648 | OMIM | 1 | | 52 | 9606 | 168450 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | PTH CL E G H | 5741 | 146200 | Hypoparathyroidism familial isolated | 146200 | C1832648 | OMIM | 1 | | 52 | 9606 | 168450 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | PTH CL E G H | 5741 | 146200 | Hypoparathyroidism familial isolated | 146200 | C1832648 | OMIM | 1 | | 52 | 9606 | 168450 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | PTH CL E G H | 5741 | 146200 | Hypoparathyroidism familial isolated | 146200 | C1832648 | OMIM | 1 | | 52 | 9606 | 168450 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | PTH CL E G H | 5741 | 146200 | Hypoparathyroidism familial isolated | 146200 | C1832648 | OMIM | 1 | | 52 | 9606 | 168450 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | PTH CL E G H | 5741 | 146200 | Hypoparathyroidism familial isolated | 146200 | C1832648 | OMIM | 1 | | 52 | 9606 | 168450 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | PTH CL E G H | 5741 | 146200 | Hypoparathyroidism familial isolated | 146200 | C1832648 | OMIM | 1 | | 52 | 9606 | 168450 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | PTH CL E G H | 5741 | 146200 | Hypoparathyroidism familial isolated | 146200 | C1832648 | OMIM | 1 | | 52 | 9606 | 168450 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | PTH CL E G H | 5741 | 146200 | Hypoparathyroidism familial isolated | 146200 | C1832648 | OMIM | 1 | | 52 | 9606 | 168450 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | QDPR CL E G H | 5860 | 261630 | Dihydropteridine reductase deficiency | 261630 | C0268465 | OMIM | 1 | | 319 | 9752 | 612676 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | QDPR CL E G H | 5860 | 261630 | Dihydropteridine reductase deficiency | 261630 | C0268465 | OMIM | 1 | | 319 | 9752 | 612676 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | QDPR CL E G H | 5860 | 261630 | Dihydropteridine reductase deficiency | 261630 | C0268465 | OMIM | 1 | | 319 | 9752 | 612676 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | QDPR CL E G H | 5860 | 261630 | Dihydropteridine reductase deficiency | 261630 | C0268465 | OMIM | 1 | | 319 | 9752 | 612676 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | QDPR CL E G H | 5860 | 261630 | Dihydropteridine reductase deficiency | 261630 | C0268465 | OMIM | 1 | | 319 | 9752 | 612676 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | QDPR CL E G H | 5860 | 261630 | Dihydropteridine reductase deficiency | 261630 | C0268465 | OMIM | 1 | | 319 | 9752 | 612676 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | QDPR CL E G H | 5860 | 261630 | Dihydropteridine reductase deficiency | 261630 | C0268465 | OMIM | 1 | | 319 | 9752 | 612676 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | QDPR CL E G H | 5860 | 261630 | Dihydropteridine reductase deficiency | 261630 | C0268465 | OMIM | 1 | | 319 | 9752 | 612676 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | QDPR CL E G H | 5860 | 261630 | Dihydropteridine reductase deficiency | 261630 | C0268465 | OMIM | 1 | | 319 | 9752 | 612676 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | QDPR CL E G H | 5860 | 261630 | Dihydropteridine reductase deficiency | 261630 | C0268465 | OMIM | 1 | | 319 | 9752 | 612676 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | QDPR CL E G H | 5860 | 261630 | Dihydropteridine reductase deficiency | 261630 | C0268465 | OMIM | 1 | | 319 | 9752 | 612676 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | QDPR CL E G H | 5860 | 261630 | Dihydropteridine reductase deficiency | 261630 | C0268465 | OMIM | 1 | | 319 | 9752 | 612676 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 1 | | 404 | 18518 | 606034 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 1 | | 404 | 18518 | 606034 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 1 | | 404 | 18518 | 606034 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 1 | | 404 | 18518 | 606034 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 1 | | 404 | 18518 | 606034 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 1 | | 404 | 18518 | 606034 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 1 | | 404 | 18518 | 606034 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 1 | | 404 | 18518 | 606034 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 1 | | 404 | 18518 | 606034 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 1 | | 404 | 18518 | 606034 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 1 | | 404 | 18518 | 606034 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 1 | | 404 | 18518 | 606034 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | RNASEH2A CL E G H | 10535 | 610333 | Aicardi Goutieres syndrome 4 | 610333 | C1835912 | OMIM | 1 | | 404 | 18518 | 606034 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | RNASEH2A CL E G H | 10535 | 610333 | Aicardi Goutieres syndrome 4 | 610333 | C1835912 | OMIM | 1 | | 404 | 18518 | 606034 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | RNASEH2A CL E G H | 10535 | 610333 | Aicardi Goutieres syndrome 4 | 610333 | C1835912 | OMIM | 1 | | 404 | 18518 | 606034 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | RNASEH2A CL E G H | 10535 | 610333 | Aicardi Goutieres syndrome 4 | 610333 | C1835912 | OMIM | 1 | | 404 | 18518 | 606034 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | RNASEH2A CL E G H | 10535 | 610333 | Aicardi Goutieres syndrome 4 | 610333 | C1835912 | OMIM | 1 | | 404 | 18518 | 606034 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | RNASEH2A CL E G H | 10535 | 610333 | Aicardi Goutieres syndrome 4 | 610333 | C1835912 | OMIM | 1 | | 404 | 18518 | 606034 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | RNASEH2A CL E G H | 10535 | 610333 | Aicardi Goutieres syndrome 4 | 610333 | C1835912 | OMIM | 1 | | 404 | 18518 | 606034 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | RNASEH2A CL E G H | 10535 | 610333 | Aicardi Goutieres syndrome 4 | 610333 | C1835912 | OMIM | 1 | | 404 | 18518 | 606034 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | RNASEH2A CL E G H | 10535 | 610333 | Aicardi Goutieres syndrome 4 | 610333 | C1835912 | OMIM | 1 | | 404 | 18518 | 606034 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | RNASEH2A CL E G H | 10535 | 610333 | Aicardi Goutieres syndrome 4 | 610333 | C1835912 | OMIM | 1 | | 404 | 18518 | 606034 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | RNASEH2A CL E G H | 10535 | 610333 | Aicardi Goutieres syndrome 4 | 610333 | C1835912 | OMIM | 1 | | 404 | 18518 | 606034 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | RNASEH2A CL E G H | 10535 | 610333 | Aicardi Goutieres syndrome 4 | 610333 | C1835912 | OMIM | 1 | | 404 | 18518 | 606034 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 1 | | 426 | 25671 | 610326 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 1 | | 426 | 25671 | 610326 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 1 | | 426 | 25671 | 610326 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 1 | | 426 | 25671 | 610326 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 1 | | 426 | 25671 | 610326 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 1 | | 426 | 25671 | 610326 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 1 | | 426 | 25671 | 610326 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 1 | | 426 | 25671 | 610326 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 1 | | 426 | 25671 | 610326 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 1 | | 426 | 25671 | 610326 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 1 | | 426 | 25671 | 610326 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 1 | | 426 | 25671 | 610326 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 1 | | 307 | 24116 | 610330 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 1 | | 307 | 24116 | 610330 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 1 | | 307 | 24116 | 610330 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 1 | | 307 | 24116 | 610330 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 1 | | 307 | 24116 | 610330 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 1 | | 307 | 24116 | 610330 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 1 | | 307 | 24116 | 610330 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 1 | | 307 | 24116 | 610330 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 1 | | 307 | 24116 | 610330 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 1 | | 307 | 24116 | 610330 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 1 | | 307 | 24116 | 610330 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 1 | | 307 | 24116 | 610330 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | RNASEH2C CL E G H | 84153 | 610329 | Aicardi Goutieres syndrome 3 | 610329 | C1835916 | OMIM | 1 | | 307 | 24116 | 610330 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | RNASEH2C CL E G H | 84153 | 610329 | Aicardi Goutieres syndrome 3 | 610329 | C1835916 | OMIM | 1 | | 307 | 24116 | 610330 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | RNASEH2C CL E G H | 84153 | 610329 | Aicardi Goutieres syndrome 3 | 610329 | C1835916 | OMIM | 1 | | 307 | 24116 | 610330 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | RNASEH2C CL E G H | 84153 | 610329 | Aicardi Goutieres syndrome 3 | 610329 | C1835916 | OMIM | 1 | | 307 | 24116 | 610330 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | RNASEH2C CL E G H | 84153 | 610329 | Aicardi Goutieres syndrome 3 | 610329 | C1835916 | OMIM | 1 | | 307 | 24116 | 610330 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | RNASEH2C CL E G H | 84153 | 610329 | Aicardi Goutieres syndrome 3 | 610329 | C1835916 | OMIM | 1 | | 307 | 24116 | 610330 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | RNASEH2C CL E G H | 84153 | 610329 | Aicardi Goutieres syndrome 3 | 610329 | C1835916 | OMIM | 1 | | 307 | 24116 | 610330 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | RNASEH2C CL E G H | 84153 | 610329 | Aicardi Goutieres syndrome 3 | 610329 | C1835916 | OMIM | 1 | | 307 | 24116 | 610330 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | RNASEH2C CL E G H | 84153 | 610329 | Aicardi Goutieres syndrome 3 | 610329 | C1835916 | OMIM | 1 | | 307 | 24116 | 610330 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | RNASEH2C CL E G H | 84153 | 610329 | Aicardi Goutieres syndrome 3 | 610329 | C1835916 | OMIM | 1 | | 307 | 24116 | 610330 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | RNASEH2C CL E G H | 84153 | 610329 | Aicardi Goutieres syndrome 3 | 610329 | C1835916 | OMIM | 1 | | 307 | 24116 | 610330 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | RNASEH2C CL E G H | 84153 | 610329 | Aicardi Goutieres syndrome 3 | 610329 | C1835916 | OMIM | 1 | | 307 | 24116 | 610330 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 1 | | 746 | 15925 | 606754 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 1 | | 746 | 15925 | 606754 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 1 | | 746 | 15925 | 606754 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 1 | | 746 | 15925 | 606754 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 1 | | 746 | 15925 | 606754 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 1 | | 746 | 15925 | 606754 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 1 | | 746 | 15925 | 606754 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 1 | | 746 | 15925 | 606754 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 1 | | 746 | 15925 | 606754 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 1 | | 746 | 15925 | 606754 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 1 | | 746 | 15925 | 606754 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 1 | | 746 | 15925 | 606754 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | SC5D CL E G H | 6309 | 46059 | | | | ORPHA | 1 | | 242 | 10547 | 602286 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | SC5D CL E G H | 6309 | 46059 | | | | ORPHA | 1 | | 242 | 10547 | 602286 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | SC5D CL E G H | 6309 | 46059 | | | | ORPHA | 1 | | 242 | 10547 | 602286 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | SC5D CL E G H | 6309 | 46059 | | | | ORPHA | 1 | | 242 | 10547 | 602286 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | SC5D CL E G H | 6309 | 46059 | | | | ORPHA | 1 | | 242 | 10547 | 602286 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | SC5D CL E G H | 6309 | 46059 | | | | ORPHA | 1 | | 242 | 10547 | 602286 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | SC5D CL E G H | 6309 | 46059 | | | | ORPHA | 1 | | 242 | 10547 | 602286 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | SC5D CL E G H | 6309 | 46059 | | | | ORPHA | 1 | | 242 | 10547 | 602286 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | SC5D CL E G H | 6309 | 46059 | | | | ORPHA | 1 | | 242 | 10547 | 602286 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | SC5D CL E G H | 6309 | 46059 | | | | ORPHA | 1 | | 242 | 10547 | 602286 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | SC5D CL E G H | 6309 | 46059 | | | | ORPHA | 1 | | 242 | 10547 | 602286 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | SC5D CL E G H | 6309 | 46059 | | | | ORPHA | 1 | | 242 | 10547 | 602286 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | SLC20A2 CL E G H | 6575 | 1980 | | | | ORPHA | 1 | | 337 | 10947 | 158378 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | SLC20A2 CL E G H | 6575 | 1980 | | | | ORPHA | 1 | | 337 | 10947 | 158378 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | SLC20A2 CL E G H | 6575 | 1980 | | | | ORPHA | 1 | | 337 | 10947 | 158378 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | SLC20A2 CL E G H | 6575 | 1980 | | | | ORPHA | 1 | | 337 | 10947 | 158378 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | SLC20A2 CL E G H | 6575 | 1980 | | | | ORPHA | 1 | | 337 | 10947 | 158378 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | SLC20A2 CL E G H | 6575 | 1980 | | | | ORPHA | 1 | | 337 | 10947 | 158378 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | SLC20A2 CL E G H | 6575 | 1980 | | | | ORPHA | 1 | | 337 | 10947 | 158378 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | SLC20A2 CL E G H | 6575 | 1980 | | | | ORPHA | 1 | | 337 | 10947 | 158378 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | SLC20A2 CL E G H | 6575 | 1980 | | | | ORPHA | 1 | | 337 | 10947 | 158378 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | SLC20A2 CL E G H | 6575 | 1980 | | | | ORPHA | 1 | | 337 | 10947 | 158378 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | SLC20A2 CL E G H | 6575 | 1980 | | | | ORPHA | 1 | | 337 | 10947 | 158378 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | SLC20A2 CL E G H | 6575 | 1980 | | | | ORPHA | 1 | | 337 | 10947 | 158378 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | SLC29A3 CL E G H | 55315 | 1782 | | | | ORPHA | 1 | | 447 | 23096 | 612373 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | SLC29A3 CL E G H | 55315 | 1782 | | | | ORPHA | 1 | | 447 | 23096 | 612373 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | SLC29A3 CL E G H | 55315 | 1782 | | | | ORPHA | 1 | | 447 | 23096 | 612373 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | SLC29A3 CL E G H | 55315 | 1782 | | | | ORPHA | 1 | | 447 | 23096 | 612373 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | SLC29A3 CL E G H | 55315 | 1782 | | | | ORPHA | 1 | | 447 | 23096 | 612373 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | SLC29A3 CL E G H | 55315 | 1782 | | | | ORPHA | 1 | | 447 | 23096 | 612373 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | SLC29A3 CL E G H | 55315 | 1782 | | | | ORPHA | 1 | | 447 | 23096 | 612373 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | SLC29A3 CL E G H | 55315 | 1782 | | | | ORPHA | 1 | | 447 | 23096 | 612373 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | SLC29A3 CL E G H | 55315 | 1782 | | | | ORPHA | 1 | | 447 | 23096 | 612373 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | SLC29A3 CL E G H | 55315 | 1782 | | | | ORPHA | 1 | | 447 | 23096 | 612373 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | SLC29A3 CL E G H | 55315 | 1782 | | | | ORPHA | 1 | | 447 | 23096 | 612373 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | SLC29A3 CL E G H | 55315 | 1782 | | | | ORPHA | 1 | | 447 | 23096 | 612373 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | SNORD118 CL E G H | 727676 | 614561 | Leukoencephalopathy, brain calcifications, and cysts | 614561 | C3281200 | OMIM | 1 | | 189 | 32952 | 616663 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | SNORD118 CL E G H | 727676 | 614561 | Leukoencephalopathy, brain calcifications, and cysts | 614561 | C3281200 | OMIM | 1 | | 189 | 32952 | 616663 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | SNORD118 CL E G H | 727676 | 614561 | Leukoencephalopathy, brain calcifications, and cysts | 614561 | C3281200 | OMIM | 1 | | 189 | 32952 | 616663 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | SNORD118 CL E G H | 727676 | 614561 | Leukoencephalopathy, brain calcifications, and cysts | 614561 | C3281200 | OMIM | 1 | | 189 | 32952 | 616663 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | SNORD118 CL E G H | 727676 | 614561 | Leukoencephalopathy, brain calcifications, and cysts | 614561 | C3281200 | OMIM | 1 | | 189 | 32952 | 616663 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | SNORD118 CL E G H | 727676 | 614561 | Leukoencephalopathy, brain calcifications, and cysts | 614561 | C3281200 | OMIM | 1 | | 189 | 32952 | 616663 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | SNORD118 CL E G H | 727676 | 614561 | Leukoencephalopathy, brain calcifications, and cysts | 614561 | C3281200 | OMIM | 1 | | 189 | 32952 | 616663 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | SNORD118 CL E G H | 727676 | 614561 | Leukoencephalopathy, brain calcifications, and cysts | 614561 | C3281200 | OMIM | 1 | | 189 | 32952 | 616663 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | SNORD118 CL E G H | 727676 | 614561 | Leukoencephalopathy, brain calcifications, and cysts | 614561 | C3281200 | OMIM | 1 | | 189 | 32952 | 616663 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | SNORD118 CL E G H | 727676 | 614561 | Leukoencephalopathy, brain calcifications, and cysts | 614561 | C3281200 | OMIM | 1 | | 189 | 32952 | 616663 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | SNORD118 CL E G H | 727676 | 614561 | Leukoencephalopathy, brain calcifications, and cysts | 614561 | C3281200 | OMIM | 1 | | 189 | 32952 | 616663 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | SNORD118 CL E G H | 727676 | 614561 | Leukoencephalopathy, brain calcifications, and cysts | 614561 | C3281200 | OMIM | 1 | | 189 | 32952 | 616663 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | SUCLA2 CL E G H | 8803 | 1933 | | | | ORPHA | 1 | | 413 | 11448 | 603921 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | SUCLA2 CL E G H | 8803 | 1933 | | | | ORPHA | 1 | | 413 | 11448 | 603921 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | SUCLA2 CL E G H | 8803 | 1933 | | | | ORPHA | 1 | | 413 | 11448 | 603921 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | SUCLA2 CL E G H | 8803 | 1933 | | | | ORPHA | 1 | | 413 | 11448 | 603921 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | SUCLA2 CL E G H | 8803 | 1933 | | | | ORPHA | 1 | | 413 | 11448 | 603921 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | SUCLA2 CL E G H | 8803 | 1933 | | | | ORPHA | 1 | | 413 | 11448 | 603921 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | SUCLA2 CL E G H | 8803 | 1933 | | | | ORPHA | 1 | | 413 | 11448 | 603921 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | SUCLA2 CL E G H | 8803 | 1933 | | | | ORPHA | 1 | | 413 | 11448 | 603921 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | SUCLA2 CL E G H | 8803 | 1933 | | | | ORPHA | 1 | | 413 | 11448 | 603921 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | SUCLA2 CL E G H | 8803 | 1933 | | | | ORPHA | 1 | | 413 | 11448 | 603921 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | SUCLA2 CL E G H | 8803 | 1933 | | | | ORPHA | 1 | | 413 | 11448 | 603921 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | SUCLA2 CL E G H | 8803 | 1933 | | | | ORPHA | 1 | | 413 | 11448 | 603921 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | SUFU CL E G H | 51684 | 377 | | | | ORPHA | 1 | | 1306 | 16466 | 607035 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | SUFU CL E G H | 51684 | 377 | | | | ORPHA | 1 | | 1306 | 16466 | 607035 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | SUFU CL E G H | 51684 | 377 | | | | ORPHA | 1 | | 1306 | 16466 | 607035 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | SUFU CL E G H | 51684 | 377 | | | | ORPHA | 1 | | 1306 | 16466 | 607035 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | SUFU CL E G H | 51684 | 377 | | | | ORPHA | 1 | | 1306 | 16466 | 607035 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | SUFU CL E G H | 51684 | 377 | | | | ORPHA | 1 | | 1306 | 16466 | 607035 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | SUFU CL E G H | 51684 | 377 | | | | ORPHA | 1 | | 1306 | 16466 | 607035 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | SUFU CL E G H | 51684 | 377 | | | | ORPHA | 1 | | 1306 | 16466 | 607035 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | SUFU CL E G H | 51684 | 377 | | | | ORPHA | 1 | | 1306 | 16466 | 607035 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | SUFU CL E G H | 51684 | 377 | | | | ORPHA | 1 | | 1306 | 16466 | 607035 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | SUFU CL E G H | 51684 | 377 | | | | ORPHA | 1 | | 1306 | 16466 | 607035 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | SUFU CL E G H | 51684 | 377 | | | | ORPHA | 1 | | 1306 | 16466 | 607035 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | TINF2 CL E G H | 26277 | 613990 | Dyskeratosis congenita, autosomal dominant, 3 | 613990 | C3151445 | OMIM | 1 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | TINF2 CL E G H | 26277 | 613990 | Dyskeratosis congenita, autosomal dominant, 3 | 613990 | C3151445 | OMIM | 1 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | TINF2 CL E G H | 26277 | 613990 | Dyskeratosis congenita, autosomal dominant, 3 | 613990 | C3151445 | OMIM | 1 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | TINF2 CL E G H | 26277 | 613990 | Dyskeratosis congenita, autosomal dominant, 3 | 613990 | C3151445 | OMIM | 1 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | TINF2 CL E G H | 26277 | 613990 | Dyskeratosis congenita, autosomal dominant, 3 | 613990 | C3151445 | OMIM | 1 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | TINF2 CL E G H | 26277 | 613990 | Dyskeratosis congenita, autosomal dominant, 3 | 613990 | C3151445 | OMIM | 1 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | TINF2 CL E G H | 26277 | 613990 | Dyskeratosis congenita, autosomal dominant, 3 | 613990 | C3151445 | OMIM | 1 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | TINF2 CL E G H | 26277 | 613990 | Dyskeratosis congenita, autosomal dominant, 3 | 613990 | C3151445 | OMIM | 1 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | TINF2 CL E G H | 26277 | 613990 | Dyskeratosis congenita, autosomal dominant, 3 | 613990 | C3151445 | OMIM | 1 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | TINF2 CL E G H | 26277 | 613990 | Dyskeratosis congenita, autosomal dominant, 3 | 613990 | C3151445 | OMIM | 1 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | TINF2 CL E G H | 26277 | 613990 | Dyskeratosis congenita, autosomal dominant, 3 | 613990 | C3151445 | OMIM | 1 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | TINF2 CL E G H | 26277 | 613990 | Dyskeratosis congenita, autosomal dominant, 3 | 613990 | C3151445 | OMIM | 1 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | TINF2 CL E G H | 26277 | 268130 | Revesz syndrome | 268130 | C1327916 | OMIM | 1 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | TINF2 CL E G H | 26277 | 268130 | Revesz syndrome | 268130 | C1327916 | OMIM | 1 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | TINF2 CL E G H | 26277 | 268130 | Revesz syndrome | 268130 | C1327916 | OMIM | 1 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | TINF2 CL E G H | 26277 | 268130 | Revesz syndrome | 268130 | C1327916 | OMIM | 1 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | TINF2 CL E G H | 26277 | 268130 | Revesz syndrome | 268130 | C1327916 | OMIM | 1 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | TINF2 CL E G H | 26277 | 268130 | Revesz syndrome | 268130 | C1327916 | OMIM | 1 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | TINF2 CL E G H | 26277 | 268130 | Revesz syndrome | 268130 | C1327916 | OMIM | 1 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | TINF2 CL E G H | 26277 | 268130 | Revesz syndrome | 268130 | C1327916 | OMIM | 1 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | TINF2 CL E G H | 26277 | 268130 | Revesz syndrome | 268130 | C1327916 | OMIM | 1 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | TINF2 CL E G H | 26277 | 268130 | Revesz syndrome | 268130 | C1327916 | OMIM | 1 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | TINF2 CL E G H | 26277 | 268130 | Revesz syndrome | 268130 | C1327916 | OMIM | 1 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | TINF2 CL E G H | 26277 | 268130 | Revesz syndrome | 268130 | C1327916 | OMIM | 1 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | TREM2 CL E G H | 54209 | 2770 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | TREM2 CL E G H | 54209 | 2770 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | TREM2 CL E G H | 54209 | 2770 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | TREM2 CL E G H | 54209 | 2770 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | TREM2 CL E G H | 54209 | 2770 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | TREM2 CL E G H | 54209 | 2770 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | TREM2 CL E G H | 54209 | 2770 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | TREM2 CL E G H | 54209 | 2770 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | TREM2 CL E G H | 54209 | 2770 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | TREM2 CL E G H | 54209 | 2770 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | TREM2 CL E G H | 54209 | 2770 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | TREM2 CL E G H | 54209 | 2770 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | TREX1 CL E G H | 11277 | 51 | | | | ORPHA | 1 | | 418 | 12269 | 606609 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | TREX1 CL E G H | 11277 | 51 | | | | ORPHA | 1 | | 418 | 12269 | 606609 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | TREX1 CL E G H | 11277 | 51 | | | | ORPHA | 1 | | 418 | 12269 | 606609 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | TREX1 CL E G H | 11277 | 51 | | | | ORPHA | 1 | | 418 | 12269 | 606609 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | TREX1 CL E G H | 11277 | 51 | | | | ORPHA | 1 | | 418 | 12269 | 606609 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | TREX1 CL E G H | 11277 | 51 | | | | ORPHA | 1 | | 418 | 12269 | 606609 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | TREX1 CL E G H | 11277 | 51 | | | | ORPHA | 1 | | 418 | 12269 | 606609 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | TREX1 CL E G H | 11277 | 51 | | | | ORPHA | 1 | | 418 | 12269 | 606609 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | TREX1 CL E G H | 11277 | 51 | | | | ORPHA | 1 | | 418 | 12269 | 606609 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | TREX1 CL E G H | 11277 | 51 | | | | ORPHA | 1 | | 418 | 12269 | 606609 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | TREX1 CL E G H | 11277 | 51 | | | | ORPHA | 1 | | 418 | 12269 | 606609 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | TREX1 CL E G H | 11277 | 51 | | | | ORPHA | 1 | | 418 | 12269 | 606609 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | TSC1 CL E G H | 7248 | 191100 | Tuberous sclerosis 1 | 191100 | C1854465 | OMIM | 1 | | 4172 | 12362 | 605284 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | TSC1 CL E G H | 7248 | 191100 | Tuberous sclerosis 1 | 191100 | C1854465 | OMIM | 1 | | 4172 | 12362 | 605284 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | TSC1 CL E G H | 7248 | 191100 | Tuberous sclerosis 1 | 191100 | C1854465 | OMIM | 1 | | 4172 | 12362 | 605284 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | TSC1 CL E G H | 7248 | 191100 | Tuberous sclerosis 1 | 191100 | C1854465 | OMIM | 1 | | 4172 | 12362 | 605284 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | TSC1 CL E G H | 7248 | 191100 | Tuberous sclerosis 1 | 191100 | C1854465 | OMIM | 1 | | 4172 | 12362 | 605284 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | TSC1 CL E G H | 7248 | 191100 | Tuberous sclerosis 1 | 191100 | C1854465 | OMIM | 1 | | 4172 | 12362 | 605284 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | TSC1 CL E G H | 7248 | 191100 | Tuberous sclerosis 1 | 191100 | C1854465 | OMIM | 1 | | 4172 | 12362 | 605284 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | TSC1 CL E G H | 7248 | 191100 | Tuberous sclerosis 1 | 191100 | C1854465 | OMIM | 1 | | 4172 | 12362 | 605284 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | TSC1 CL E G H | 7248 | 191100 | Tuberous sclerosis 1 | 191100 | C1854465 | OMIM | 1 | | 4172 | 12362 | 605284 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | TSC1 CL E G H | 7248 | 191100 | Tuberous sclerosis 1 | 191100 | C1854465 | OMIM | 1 | | 4172 | 12362 | 605284 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | TSC1 CL E G H | 7248 | 191100 | Tuberous sclerosis 1 | 191100 | C1854465 | OMIM | 1 | | 4172 | 12362 | 605284 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | TSC1 CL E G H | 7248 | 191100 | Tuberous sclerosis 1 | 191100 | C1854465 | OMIM | 1 | | 4172 | 12362 | 605284 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | TSC2 CL E G H | 7249 | 613254 | Tuberous sclerosis 2 | 613254 | C1860707 | OMIM | 1 | | 9638 | 12363 | 191092 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | TSC2 CL E G H | 7249 | 613254 | Tuberous sclerosis 2 | 613254 | C1860707 | OMIM | 1 | | 9638 | 12363 | 191092 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | TSC2 CL E G H | 7249 | 613254 | Tuberous sclerosis 2 | 613254 | C1860707 | OMIM | 1 | | 9638 | 12363 | 191092 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | TSC2 CL E G H | 7249 | 613254 | Tuberous sclerosis 2 | 613254 | C1860707 | OMIM | 1 | | 9638 | 12363 | 191092 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | TSC2 CL E G H | 7249 | 613254 | Tuberous sclerosis 2 | 613254 | C1860707 | OMIM | 1 | | 9638 | 12363 | 191092 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | TSC2 CL E G H | 7249 | 613254 | Tuberous sclerosis 2 | 613254 | C1860707 | OMIM | 1 | | 9638 | 12363 | 191092 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | TSC2 CL E G H | 7249 | 613254 | Tuberous sclerosis 2 | 613254 | C1860707 | OMIM | 1 | | 9638 | 12363 | 191092 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | TSC2 CL E G H | 7249 | 613254 | Tuberous sclerosis 2 | 613254 | C1860707 | OMIM | 1 | | 9638 | 12363 | 191092 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | TSC2 CL E G H | 7249 | 613254 | Tuberous sclerosis 2 | 613254 | C1860707 | OMIM | 1 | | 9638 | 12363 | 191092 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | TSC2 CL E G H | 7249 | 613254 | Tuberous sclerosis 2 | 613254 | C1860707 | OMIM | 1 | | 9638 | 12363 | 191092 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | TSC2 CL E G H | 7249 | 613254 | Tuberous sclerosis 2 | 613254 | C1860707 | OMIM | 1 | | 9638 | 12363 | 191092 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | TSC2 CL E G H | 7249 | 613254 | Tuberous sclerosis 2 | 613254 | C1860707 | OMIM | 1 | | 9638 | 12363 | 191092 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | TYROBP CL E G H | 7305 | 2770 | | | | ORPHA | 1 | | 110 | 12449 | 604142 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | TYROBP CL E G H | 7305 | 2770 | | | | ORPHA | 1 | | 110 | 12449 | 604142 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | TYROBP CL E G H | 7305 | 2770 | | | | ORPHA | 1 | | 110 | 12449 | 604142 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | TYROBP CL E G H | 7305 | 2770 | | | | ORPHA | 1 | | 110 | 12449 | 604142 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | TYROBP CL E G H | 7305 | 2770 | | | | ORPHA | 1 | | 110 | 12449 | 604142 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | TYROBP CL E G H | 7305 | 2770 | | | | ORPHA | 1 | | 110 | 12449 | 604142 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | TYROBP CL E G H | 7305 | 2770 | | | | ORPHA | 1 | | 110 | 12449 | 604142 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | TYROBP CL E G H | 7305 | 2770 | | | | ORPHA | 1 | | 110 | 12449 | 604142 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | TYROBP CL E G H | 7305 | 2770 | | | | ORPHA | 1 | | 110 | 12449 | 604142 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | TYROBP CL E G H | 7305 | 2770 | | | | ORPHA | 1 | | 110 | 12449 | 604142 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | TYROBP CL E G H | 7305 | 2770 | | | | ORPHA | 1 | | 110 | 12449 | 604142 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | TYROBP CL E G H | 7305 | 2770 | | | | ORPHA | 1 | | 110 | 12449 | 604142 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | USP18 CL E G H | 11274 | 617397 | Pseudo-torch syndrome 2 | 617397 | C4479376 | OMIM | 1 | | 165 | 12616 | 607057 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | USP18 CL E G H | 11274 | 617397 | Pseudo-torch syndrome 2 | 617397 | C4479376 | OMIM | 1 | | 165 | 12616 | 607057 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | USP18 CL E G H | 11274 | 617397 | Pseudo-torch syndrome 2 | 617397 | C4479376 | OMIM | 1 | | 165 | 12616 | 607057 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | USP18 CL E G H | 11274 | 617397 | Pseudo-torch syndrome 2 | 617397 | C4479376 | OMIM | 1 | | 165 | 12616 | 607057 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | USP18 CL E G H | 11274 | 617397 | Pseudo-torch syndrome 2 | 617397 | C4479376 | OMIM | 1 | | 165 | 12616 | 607057 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | USP18 CL E G H | 11274 | 617397 | Pseudo-torch syndrome 2 | 617397 | C4479376 | OMIM | 1 | | 165 | 12616 | 607057 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | USP18 CL E G H | 11274 | 617397 | Pseudo-torch syndrome 2 | 617397 | C4479376 | OMIM | 1 | | 165 | 12616 | 607057 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | USP18 CL E G H | 11274 | 617397 | Pseudo-torch syndrome 2 | 617397 | C4479376 | OMIM | 1 | | 165 | 12616 | 607057 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | USP18 CL E G H | 11274 | 617397 | Pseudo-torch syndrome 2 | 617397 | C4479376 | OMIM | 1 | | 165 | 12616 | 607057 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | USP18 CL E G H | 11274 | 617397 | Pseudo-torch syndrome 2 | 617397 | C4479376 | OMIM | 1 | | 165 | 12616 | 607057 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | USP18 CL E G H | 11274 | 617397 | Pseudo-torch syndrome 2 | 617397 | C4479376 | OMIM | 1 | | 165 | 12616 | 607057 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | USP18 CL E G H | 11274 | 617397 | Pseudo-torch syndrome 2 | 617397 | C4479376 | OMIM | 1 | | 165 | 12616 | 607057 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | XPR1 CL E G H | 9213 | 1980 | | | | ORPHA | 1 | | 234 | 12827 | 605237 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | XPR1 CL E G H | 9213 | 1980 | | | | ORPHA | 1 | | 234 | 12827 | 605237 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | XPR1 CL E G H | 9213 | 1980 | | | | ORPHA | 1 | | 234 | 12827 | 605237 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | XPR1 CL E G H | 9213 | 1980 | | | | ORPHA | 1 | | 234 | 12827 | 605237 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | XPR1 CL E G H | 9213 | 1980 | | | | ORPHA | 1 | | 234 | 12827 | 605237 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | XPR1 CL E G H | 9213 | 1980 | | | | ORPHA | 1 | | 234 | 12827 | 605237 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | XPR1 CL E G H | 9213 | 1980 | | | | ORPHA | 1 | | 234 | 12827 | 605237 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | XPR1 CL E G H | 9213 | 1980 | | | | ORPHA | 1 | | 234 | 12827 | 605237 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | XPR1 CL E G H | 9213 | 1980 | | | | ORPHA | 1 | | 234 | 12827 | 605237 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | XPR1 CL E G H | 9213 | 1980 | | | | ORPHA | 1 | | 234 | 12827 | 605237 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | XPR1 CL E G H | 9213 | 1980 | | | | ORPHA | 1 | | 234 | 12827 | 605237 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | XPR1 CL E G H | 9213 | 1980 | | | | ORPHA | 1 | | 234 | 12827 | 605237 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ABCC6 CL E G H | 368 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 1666 | 57 | 603234 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ACD CL E G H | 65057 | 3322 | | | | ORPHA | 0 | | 1049 | 25070 | 609377 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 0 | | 1122 | 225 | 146920 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | AIRE CL E G H | 326 | 3453 | Meier Rotschild syndrome | | | ORPHA | 0 | | 1035 | 360 | 607358 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | AMER1 CL E G H | 139285 | 2780 | Hydronephrosis congenital | | | ORPHA | 0 | | 450 | 26837 | 300647 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 0 | | 241 | 560 | 300629 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | COL2A1 CL E G H | 1280 | 85198 | | | | ORPHA | 0 | | 2380 | 2200 | 120140 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1292 | 26169 | 613129 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | CTNS CL E G H | 1497 | 219800 | Nephropathic cystinosis | 219800 | C0010690 | OMIM | 0 | | 778 | 2518 | 606272 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | CYP27A1 CL E G H | 1593 | 909 | | | | ORPHA | 0 | | 940 | 2605 | 606530 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 0 | | 463 | 19344 | 617278 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | DKC1 CL E G H | 1736 | 3322 | | | | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ECM1 CL E G H | 1893 | 530 | Acute myeloblastic leukemia type 5 | | | ORPHA | 0 | | 106 | 3153 | 602201 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ENPP1 CL E G H | 5167 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 589 | 3356 | 173335 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | FARSB CL E G H | 10056 | 613658 | Rajab syndrome | 613658 | C3150910 | OMIM | 0 | | 169 | 17800 | 609690 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | GNAQ CL E G H | 2776 | 624 | | | | ORPHA | 0 | | 91 | 4390 | 600998 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 91 | 4390 | 600998 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | HRAS CL E G H | 3265 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 622 | 5173 | 190020 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | KRAS CL E G H | 3845 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | MYMK CL E G H | 389827 | 1358 | | | | ORPHA | 0 | | 86 | 33778 | 615345 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | MYO5A CL E G H | 4644 | 79476 | | | | ORPHA | 0 | | 337 | 7602 | 160777 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | NHP2 CL E G H | 55651 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 196 | 14377 | 606470 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | NHP2 CL E G H | 55651 | 613987 | Dyskeratosis congenita, autosomal recessive 2 | 613987 | C3151441 | OMIM | 0 | | 196 | 14377 | 606470 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | NOP10 CL E G H | 55505 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 102 | 14378 | 606471 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | NRAS CL E G H | 4893 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 281 | 7989 | 164790 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | PAH CL E G H | 5053 | 79254 | | | | ORPHA | 0 | | 1446 | 8582 | 612349 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | PARN CL E G H | 5073 | 3322 | | | | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | PARN CL E G H | 5073 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | PEX1 CL E G H | 5189 | 3220 | | | | ORPHA | 0 | | 1537 | 8850 | 602136 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | PEX6 CL E G H | 5190 | 3220 | | | | ORPHA | 0 | | 1458 | 8859 | 601498 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | PHGDH CL E G H | 26227 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 0 | | 694 | 8923 | 606879 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | PSAT1 CL E G H | 29968 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 0 | | 498 | 19129 | 610936 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | RNASET2 CL E G H | 8635 | 612951 | Leukoencephalopathy, cystic, without megalencephaly | 612951 | C2751843 | OMIM | 0 | | 199 | 21686 | 612944 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | RTEL1 CL E G H | 51750 | 3322 | | | | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | RTEL1 CL E G H | 51750 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | SLC16A2 CL E G H | 6567 | 59 | | | | ORPHA | 0 | | 427 | 10923 | 300095 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | SLC26A2 CL E G H | 1836 | 628 | | | | ORPHA | 0 | | 688 | 10994 | 606718 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | SLC46A1 CL E G H | 113235 | 90045 | | | | ORPHA | 0 | | 329 | 30521 | 611672 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | SMARCB1 CL E G H | 6598 | 99966 | | | | ORPHA | 0 | | 1043 | 11103 | 601607 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | SNRPB CL E G H | 6628 | 1393 | | | | ORPHA | 0 | | 117 | 11153 | 182282 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TERC CL E G H | 7012 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 358 | 11727 | 602322 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TERT CL E G H | 7015 | 3322 | | | | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TERT CL E G H | 7015 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TINF2 CL E G H | 26277 | 3322 | | | | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TINF2 CL E G H | 26277 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TSC1 CL E G H | 7248 | 805 | | | | ORPHA | 0 | | 4172 | 12362 | 605284 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TSC2 CL E G H | 7249 | 805 | | | | ORPHA | 0 | | 9638 | 12363 | 191092 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | USB1 CL E G H | 79650 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 282 | 25792 | 613276 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | VPS33A CL E G H | 65082 | 617303 | Mucopolysaccharidosis-plus syndrome | 617303 | C4310627 | OMIM | 0 | | 274 | 18179 | 610034 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | WRAP53 CL E G H | 55135 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 484 | 25522 | 612661 |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ZBTB20 CL E G H | 26137 | 259050 | Primrose syndrome | 259050 | C0796121 | OMIM | 0 | | 252 | 13503 | 606025 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | ABCC6 CL E G H | 368 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 1666 | 57 | 603234 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | ABCC6 CL E G H | 368 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 1666 | 57 | 603234 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | ABCC6 CL E G H | 368 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 1666 | 57 | 603234 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | ABCC6 CL E G H | 368 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 1666 | 57 | 603234 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | ABCC6 CL E G H | 368 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 1666 | 57 | 603234 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | ABCC6 CL E G H | 368 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 1666 | 57 | 603234 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | ABCC6 CL E G H | 368 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 1666 | 57 | 603234 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | ABCC6 CL E G H | 368 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 1666 | 57 | 603234 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | ABCC6 CL E G H | 368 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 1666 | 57 | 603234 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | ABCC6 CL E G H | 368 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 1666 | 57 | 603234 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | ABCC6 CL E G H | 368 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 1666 | 57 | 603234 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | ABCC6 CL E G H | 368 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 1666 | 57 | 603234 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | ACD CL E G H | 65057 | 3322 | | | | ORPHA | 0 | | 1049 | 25070 | 609377 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | ACD CL E G H | 65057 | 3322 | | | | ORPHA | 0 | | 1049 | 25070 | 609377 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | ACD CL E G H | 65057 | 3322 | | | | ORPHA | 0 | | 1049 | 25070 | 609377 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | ACD CL E G H | 65057 | 3322 | | | | ORPHA | 0 | | 1049 | 25070 | 609377 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | ACD CL E G H | 65057 | 3322 | | | | ORPHA | 0 | | 1049 | 25070 | 609377 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | ACD CL E G H | 65057 | 3322 | | | | ORPHA | 0 | | 1049 | 25070 | 609377 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | ACD CL E G H | 65057 | 3322 | | | | ORPHA | 0 | | 1049 | 25070 | 609377 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | ACD CL E G H | 65057 | 3322 | | | | ORPHA | 0 | | 1049 | 25070 | 609377 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | ACD CL E G H | 65057 | 3322 | | | | ORPHA | 0 | | 1049 | 25070 | 609377 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | ACD CL E G H | 65057 | 3322 | | | | ORPHA | 0 | | 1049 | 25070 | 609377 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | ACD CL E G H | 65057 | 3322 | | | | ORPHA | 0 | | 1049 | 25070 | 609377 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | ACD CL E G H | 65057 | 3322 | | | | ORPHA | 0 | | 1049 | 25070 | 609377 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 0 | | 1122 | 225 | 146920 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 0 | | 1122 | 225 | 146920 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 0 | | 1122 | 225 | 146920 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 0 | | 1122 | 225 | 146920 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 0 | | 1122 | 225 | 146920 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 0 | | 1122 | 225 | 146920 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 0 | | 1122 | 225 | 146920 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 0 | | 1122 | 225 | 146920 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 0 | | 1122 | 225 | 146920 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 0 | | 1122 | 225 | 146920 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 0 | | 1122 | 225 | 146920 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 0 | | 1122 | 225 | 146920 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | AIRE CL E G H | 326 | 3453 | Meier Rotschild syndrome | | | ORPHA | 0 | | 1035 | 360 | 607358 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | AIRE CL E G H | 326 | 3453 | Meier Rotschild syndrome | | | ORPHA | 0 | | 1035 | 360 | 607358 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | AIRE CL E G H | 326 | 3453 | Meier Rotschild syndrome | | | ORPHA | 0 | | 1035 | 360 | 607358 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | AIRE CL E G H | 326 | 3453 | Meier Rotschild syndrome | | | ORPHA | 0 | | 1035 | 360 | 607358 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | AIRE CL E G H | 326 | 3453 | Meier Rotschild syndrome | | | ORPHA | 0 | | 1035 | 360 | 607358 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | AIRE CL E G H | 326 | 3453 | Meier Rotschild syndrome | | | ORPHA | 0 | | 1035 | 360 | 607358 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | AIRE CL E G H | 326 | 3453 | Meier Rotschild syndrome | | | ORPHA | 0 | | 1035 | 360 | 607358 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | AIRE CL E G H | 326 | 3453 | Meier Rotschild syndrome | | | ORPHA | 0 | | 1035 | 360 | 607358 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | AIRE CL E G H | 326 | 3453 | Meier Rotschild syndrome | | | ORPHA | 0 | | 1035 | 360 | 607358 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | AIRE CL E G H | 326 | 3453 | Meier Rotschild syndrome | | | ORPHA | 0 | | 1035 | 360 | 607358 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | AIRE CL E G H | 326 | 3453 | Meier Rotschild syndrome | | | ORPHA | 0 | | 1035 | 360 | 607358 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | AIRE CL E G H | 326 | 3453 | Meier Rotschild syndrome | | | ORPHA | 0 | | 1035 | 360 | 607358 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | AMER1 CL E G H | 139285 | 2780 | Hydronephrosis congenital | | | ORPHA | 0 | | 450 | 26837 | 300647 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | AMER1 CL E G H | 139285 | 2780 | Hydronephrosis congenital | | | ORPHA | 0 | | 450 | 26837 | 300647 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | AMER1 CL E G H | 139285 | 2780 | Hydronephrosis congenital | | | ORPHA | 0 | | 450 | 26837 | 300647 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | AMER1 CL E G H | 139285 | 2780 | Hydronephrosis congenital | | | ORPHA | 0 | | 450 | 26837 | 300647 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | AMER1 CL E G H | 139285 | 2780 | Hydronephrosis congenital | | | ORPHA | 0 | | 450 | 26837 | 300647 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | AMER1 CL E G H | 139285 | 2780 | Hydronephrosis congenital | | | ORPHA | 0 | | 450 | 26837 | 300647 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | AMER1 CL E G H | 139285 | 2780 | Hydronephrosis congenital | | | ORPHA | 0 | | 450 | 26837 | 300647 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | AMER1 CL E G H | 139285 | 2780 | Hydronephrosis congenital | | | ORPHA | 0 | | 450 | 26837 | 300647 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | AMER1 CL E G H | 139285 | 2780 | Hydronephrosis congenital | | | ORPHA | 0 | | 450 | 26837 | 300647 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | AMER1 CL E G H | 139285 | 2780 | Hydronephrosis congenital | | | ORPHA | 0 | | 450 | 26837 | 300647 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | AMER1 CL E G H | 139285 | 2780 | Hydronephrosis congenital | | | ORPHA | 0 | | 450 | 26837 | 300647 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | AMER1 CL E G H | 139285 | 2780 | Hydronephrosis congenital | | | ORPHA | 0 | | 450 | 26837 | 300647 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 0 | | 241 | 560 | 300629 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 0 | | 241 | 560 | 300629 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 0 | | 241 | 560 | 300629 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 0 | | 241 | 560 | 300629 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 0 | | 241 | 560 | 300629 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 0 | | 241 | 560 | 300629 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 0 | | 241 | 560 | 300629 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 0 | | 241 | 560 | 300629 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 0 | | 241 | 560 | 300629 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 0 | | 241 | 560 | 300629 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 0 | | 241 | 560 | 300629 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 0 | | 241 | 560 | 300629 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | COL2A1 CL E G H | 1280 | 85198 | | | | ORPHA | 0 | | 2380 | 2200 | 120140 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | COL2A1 CL E G H | 1280 | 85198 | | | | ORPHA | 0 | | 2380 | 2200 | 120140 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | COL2A1 CL E G H | 1280 | 85198 | | | | ORPHA | 0 | | 2380 | 2200 | 120140 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | COL2A1 CL E G H | 1280 | 85198 | | | | ORPHA | 0 | | 2380 | 2200 | 120140 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | COL2A1 CL E G H | 1280 | 85198 | | | | ORPHA | 0 | | 2380 | 2200 | 120140 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | COL2A1 CL E G H | 1280 | 85198 | | | | ORPHA | 0 | | 2380 | 2200 | 120140 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | COL2A1 CL E G H | 1280 | 85198 | | | | ORPHA | 0 | | 2380 | 2200 | 120140 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | COL2A1 CL E G H | 1280 | 85198 | | | | ORPHA | 0 | | 2380 | 2200 | 120140 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | COL2A1 CL E G H | 1280 | 85198 | | | | ORPHA | 0 | | 2380 | 2200 | 120140 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | COL2A1 CL E G H | 1280 | 85198 | | | | ORPHA | 0 | | 2380 | 2200 | 120140 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | COL2A1 CL E G H | 1280 | 85198 | | | | ORPHA | 0 | | 2380 | 2200 | 120140 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | COL2A1 CL E G H | 1280 | 85198 | | | | ORPHA | 0 | | 2380 | 2200 | 120140 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1292 | 26169 | 613129 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1292 | 26169 | 613129 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1292 | 26169 | 613129 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1292 | 26169 | 613129 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1292 | 26169 | 613129 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1292 | 26169 | 613129 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1292 | 26169 | 613129 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1292 | 26169 | 613129 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1292 | 26169 | 613129 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1292 | 26169 | 613129 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1292 | 26169 | 613129 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1292 | 26169 | 613129 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | CTNS CL E G H | 1497 | 219800 | Nephropathic cystinosis | 219800 | C0010690 | OMIM | 0 | | 778 | 2518 | 606272 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | CTNS CL E G H | 1497 | 219800 | Nephropathic cystinosis | 219800 | C0010690 | OMIM | 0 | | 778 | 2518 | 606272 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | CTNS CL E G H | 1497 | 219800 | Nephropathic cystinosis | 219800 | C0010690 | OMIM | 0 | | 778 | 2518 | 606272 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | CTNS CL E G H | 1497 | 219800 | Nephropathic cystinosis | 219800 | C0010690 | OMIM | 0 | | 778 | 2518 | 606272 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | CTNS CL E G H | 1497 | 219800 | Nephropathic cystinosis | 219800 | C0010690 | OMIM | 0 | | 778 | 2518 | 606272 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | CTNS CL E G H | 1497 | 219800 | Nephropathic cystinosis | 219800 | C0010690 | OMIM | 0 | | 778 | 2518 | 606272 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | CTNS CL E G H | 1497 | 219800 | Nephropathic cystinosis | 219800 | C0010690 | OMIM | 0 | | 778 | 2518 | 606272 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | CTNS CL E G H | 1497 | 219800 | Nephropathic cystinosis | 219800 | C0010690 | OMIM | 0 | | 778 | 2518 | 606272 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | CTNS CL E G H | 1497 | 219800 | Nephropathic cystinosis | 219800 | C0010690 | OMIM | 0 | | 778 | 2518 | 606272 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | CTNS CL E G H | 1497 | 219800 | Nephropathic cystinosis | 219800 | C0010690 | OMIM | 0 | | 778 | 2518 | 606272 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | CTNS CL E G H | 1497 | 219800 | Nephropathic cystinosis | 219800 | C0010690 | OMIM | 0 | | 778 | 2518 | 606272 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | CTNS CL E G H | 1497 | 219800 | Nephropathic cystinosis | 219800 | C0010690 | OMIM | 0 | | 778 | 2518 | 606272 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | CYP27A1 CL E G H | 1593 | 909 | | | | ORPHA | 0 | | 940 | 2605 | 606530 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | CYP27A1 CL E G H | 1593 | 909 | | | | ORPHA | 0 | | 940 | 2605 | 606530 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | CYP27A1 CL E G H | 1593 | 909 | | | | ORPHA | 0 | | 940 | 2605 | 606530 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | CYP27A1 CL E G H | 1593 | 909 | | | | ORPHA | 0 | | 940 | 2605 | 606530 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | CYP27A1 CL E G H | 1593 | 909 | | | | ORPHA | 0 | | 940 | 2605 | 606530 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | CYP27A1 CL E G H | 1593 | 909 | | | | ORPHA | 0 | | 940 | 2605 | 606530 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | CYP27A1 CL E G H | 1593 | 909 | | | | ORPHA | 0 | | 940 | 2605 | 606530 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | CYP27A1 CL E G H | 1593 | 909 | | | | ORPHA | 0 | | 940 | 2605 | 606530 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | CYP27A1 CL E G H | 1593 | 909 | | | | ORPHA | 0 | | 940 | 2605 | 606530 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | CYP27A1 CL E G H | 1593 | 909 | | | | ORPHA | 0 | | 940 | 2605 | 606530 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | CYP27A1 CL E G H | 1593 | 909 | | | | ORPHA | 0 | | 940 | 2605 | 606530 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | CYP27A1 CL E G H | 1593 | 909 | | | | ORPHA | 0 | | 940 | 2605 | 606530 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 0 | | 463 | 19344 | 617278 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 0 | | 463 | 19344 | 617278 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 0 | | 463 | 19344 | 617278 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 0 | | 463 | 19344 | 617278 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 0 | | 463 | 19344 | 617278 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 0 | | 463 | 19344 | 617278 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 0 | | 463 | 19344 | 617278 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 0 | | 463 | 19344 | 617278 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 0 | | 463 | 19344 | 617278 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 0 | | 463 | 19344 | 617278 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 0 | | 463 | 19344 | 617278 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | DENND5A CL E G H | 23258 | 617281 | Epileptic encephalopathy, early infantile, 49 | 617281 | C4310635 | OMIM | 0 | | 463 | 19344 | 617278 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | DKC1 CL E G H | 1736 | 3322 | | | | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | DKC1 CL E G H | 1736 | 3322 | | | | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | DKC1 CL E G H | 1736 | 3322 | | | | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | DKC1 CL E G H | 1736 | 3322 | | | | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | DKC1 CL E G H | 1736 | 3322 | | | | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | DKC1 CL E G H | 1736 | 3322 | | | | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | DKC1 CL E G H | 1736 | 3322 | | | | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | DKC1 CL E G H | 1736 | 3322 | | | | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | DKC1 CL E G H | 1736 | 3322 | | | | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | DKC1 CL E G H | 1736 | 3322 | | | | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | DKC1 CL E G H | 1736 | 3322 | | | | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | DKC1 CL E G H | 1736 | 3322 | | | | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 534 | 2890 | 300126 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | ECM1 CL E G H | 1893 | 530 | Acute myeloblastic leukemia type 5 | | | ORPHA | 0 | | 106 | 3153 | 602201 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | ECM1 CL E G H | 1893 | 530 | Acute myeloblastic leukemia type 5 | | | ORPHA | 0 | | 106 | 3153 | 602201 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | ECM1 CL E G H | 1893 | 530 | Acute myeloblastic leukemia type 5 | | | ORPHA | 0 | | 106 | 3153 | 602201 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | ECM1 CL E G H | 1893 | 530 | Acute myeloblastic leukemia type 5 | | | ORPHA | 0 | | 106 | 3153 | 602201 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | ECM1 CL E G H | 1893 | 530 | Acute myeloblastic leukemia type 5 | | | ORPHA | 0 | | 106 | 3153 | 602201 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | ECM1 CL E G H | 1893 | 530 | Acute myeloblastic leukemia type 5 | | | ORPHA | 0 | | 106 | 3153 | 602201 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | ECM1 CL E G H | 1893 | 530 | Acute myeloblastic leukemia type 5 | | | ORPHA | 0 | | 106 | 3153 | 602201 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | ECM1 CL E G H | 1893 | 530 | Acute myeloblastic leukemia type 5 | | | ORPHA | 0 | | 106 | 3153 | 602201 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | ECM1 CL E G H | 1893 | 530 | Acute myeloblastic leukemia type 5 | | | ORPHA | 0 | | 106 | 3153 | 602201 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | ECM1 CL E G H | 1893 | 530 | Acute myeloblastic leukemia type 5 | | | ORPHA | 0 | | 106 | 3153 | 602201 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | ECM1 CL E G H | 1893 | 530 | Acute myeloblastic leukemia type 5 | | | ORPHA | 0 | | 106 | 3153 | 602201 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | ECM1 CL E G H | 1893 | 530 | Acute myeloblastic leukemia type 5 | | | ORPHA | 0 | | 106 | 3153 | 602201 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | ENPP1 CL E G H | 5167 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 589 | 3356 | 173335 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | ENPP1 CL E G H | 5167 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 589 | 3356 | 173335 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | ENPP1 CL E G H | 5167 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 589 | 3356 | 173335 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | ENPP1 CL E G H | 5167 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 589 | 3356 | 173335 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | ENPP1 CL E G H | 5167 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 589 | 3356 | 173335 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | ENPP1 CL E G H | 5167 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 589 | 3356 | 173335 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | ENPP1 CL E G H | 5167 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 589 | 3356 | 173335 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | ENPP1 CL E G H | 5167 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 589 | 3356 | 173335 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | ENPP1 CL E G H | 5167 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 589 | 3356 | 173335 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | ENPP1 CL E G H | 5167 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 589 | 3356 | 173335 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | ENPP1 CL E G H | 5167 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 589 | 3356 | 173335 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | ENPP1 CL E G H | 5167 | 758 | Apo A-I deficiency | | | ORPHA | 0 | | 589 | 3356 | 173335 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | FARSB CL E G H | 10056 | 613658 | Rajab syndrome | 613658 | C3150910 | OMIM | 0 | | 169 | 17800 | 609690 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | FARSB CL E G H | 10056 | 613658 | Rajab syndrome | 613658 | C3150910 | OMIM | 0 | | 169 | 17800 | 609690 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | FARSB CL E G H | 10056 | 613658 | Rajab syndrome | 613658 | C3150910 | OMIM | 0 | | 169 | 17800 | 609690 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | FARSB CL E G H | 10056 | 613658 | Rajab syndrome | 613658 | C3150910 | OMIM | 0 | | 169 | 17800 | 609690 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | FARSB CL E G H | 10056 | 613658 | Rajab syndrome | 613658 | C3150910 | OMIM | 0 | | 169 | 17800 | 609690 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | FARSB CL E G H | 10056 | 613658 | Rajab syndrome | 613658 | C3150910 | OMIM | 0 | | 169 | 17800 | 609690 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | FARSB CL E G H | 10056 | 613658 | Rajab syndrome | 613658 | C3150910 | OMIM | 0 | | 169 | 17800 | 609690 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | FARSB CL E G H | 10056 | 613658 | Rajab syndrome | 613658 | C3150910 | OMIM | 0 | | 169 | 17800 | 609690 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | FARSB CL E G H | 10056 | 613658 | Rajab syndrome | 613658 | C3150910 | OMIM | 0 | | 169 | 17800 | 609690 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | FARSB CL E G H | 10056 | 613658 | Rajab syndrome | 613658 | C3150910 | OMIM | 0 | | 169 | 17800 | 609690 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | FARSB CL E G H | 10056 | 613658 | Rajab syndrome | 613658 | C3150910 | OMIM | 0 | | 169 | 17800 | 609690 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | FARSB CL E G H | 10056 | 613658 | Rajab syndrome | 613658 | C3150910 | OMIM | 0 | | 169 | 17800 | 609690 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | GNAQ CL E G H | 2776 | 624 | | | | ORPHA | 0 | | 91 | 4390 | 600998 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | GNAQ CL E G H | 2776 | 624 | | | | ORPHA | 0 | | 91 | 4390 | 600998 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | GNAQ CL E G H | 2776 | 624 | | | | ORPHA | 0 | | 91 | 4390 | 600998 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | GNAQ CL E G H | 2776 | 624 | | | | ORPHA | 0 | | 91 | 4390 | 600998 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | GNAQ CL E G H | 2776 | 624 | | | | ORPHA | 0 | | 91 | 4390 | 600998 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | GNAQ CL E G H | 2776 | 624 | | | | ORPHA | 0 | | 91 | 4390 | 600998 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | GNAQ CL E G H | 2776 | 624 | | | | ORPHA | 0 | | 91 | 4390 | 600998 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | GNAQ CL E G H | 2776 | 624 | | | | ORPHA | 0 | | 91 | 4390 | 600998 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | GNAQ CL E G H | 2776 | 624 | | | | ORPHA | 0 | | 91 | 4390 | 600998 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | GNAQ CL E G H | 2776 | 624 | | | | ORPHA | 0 | | 91 | 4390 | 600998 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | GNAQ CL E G H | 2776 | 624 | | | | ORPHA | 0 | | 91 | 4390 | 600998 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | GNAQ CL E G H | 2776 | 624 | | | | ORPHA | 0 | | 91 | 4390 | 600998 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 91 | 4390 | 600998 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 91 | 4390 | 600998 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 91 | 4390 | 600998 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 91 | 4390 | 600998 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 91 | 4390 | 600998 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 91 | 4390 | 600998 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 91 | 4390 | 600998 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 91 | 4390 | 600998 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 91 | 4390 | 600998 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 91 | 4390 | 600998 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 91 | 4390 | 600998 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 91 | 4390 | 600998 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | HRAS CL E G H | 3265 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 622 | 5173 | 190020 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | HRAS CL E G H | 3265 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 622 | 5173 | 190020 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | HRAS CL E G H | 3265 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 622 | 5173 | 190020 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | HRAS CL E G H | 3265 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 622 | 5173 | 190020 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | HRAS CL E G H | 3265 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 622 | 5173 | 190020 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | HRAS CL E G H | 3265 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 622 | 5173 | 190020 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | HRAS CL E G H | 3265 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 622 | 5173 | 190020 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | HRAS CL E G H | 3265 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 622 | 5173 | 190020 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | HRAS CL E G H | 3265 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 622 | 5173 | 190020 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | HRAS CL E G H | 3265 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 622 | 5173 | 190020 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | HRAS CL E G H | 3265 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 622 | 5173 | 190020 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | HRAS CL E G H | 3265 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 622 | 5173 | 190020 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | KRAS CL E G H | 3845 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | KRAS CL E G H | 3845 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | KRAS CL E G H | 3845 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | KRAS CL E G H | 3845 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | KRAS CL E G H | 3845 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | KRAS CL E G H | 3845 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | KRAS CL E G H | 3845 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | KRAS CL E G H | 3845 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | KRAS CL E G H | 3845 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | KRAS CL E G H | 3845 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | KRAS CL E G H | 3845 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | KRAS CL E G H | 3845 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 480 | 6407 | 190070 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | MYMK CL E G H | 389827 | 1358 | | | | ORPHA | 0 | | 86 | 33778 | 615345 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | MYMK CL E G H | 389827 | 1358 | | | | ORPHA | 0 | | 86 | 33778 | 615345 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | MYMK CL E G H | 389827 | 1358 | | | | ORPHA | 0 | | 86 | 33778 | 615345 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | MYMK CL E G H | 389827 | 1358 | | | | ORPHA | 0 | | 86 | 33778 | 615345 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | MYMK CL E G H | 389827 | 1358 | | | | ORPHA | 0 | | 86 | 33778 | 615345 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | MYMK CL E G H | 389827 | 1358 | | | | ORPHA | 0 | | 86 | 33778 | 615345 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | MYMK CL E G H | 389827 | 1358 | | | | ORPHA | 0 | | 86 | 33778 | 615345 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | MYMK CL E G H | 389827 | 1358 | | | | ORPHA | 0 | | 86 | 33778 | 615345 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | MYMK CL E G H | 389827 | 1358 | | | | ORPHA | 0 | | 86 | 33778 | 615345 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | MYMK CL E G H | 389827 | 1358 | | | | ORPHA | 0 | | 86 | 33778 | 615345 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | MYMK CL E G H | 389827 | 1358 | | | | ORPHA | 0 | | 86 | 33778 | 615345 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | MYMK CL E G H | 389827 | 1358 | | | | ORPHA | 0 | | 86 | 33778 | 615345 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | MYO5A CL E G H | 4644 | 79476 | | | | ORPHA | 0 | | 337 | 7602 | 160777 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | MYO5A CL E G H | 4644 | 79476 | | | | ORPHA | 0 | | 337 | 7602 | 160777 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | MYO5A CL E G H | 4644 | 79476 | | | | ORPHA | 0 | | 337 | 7602 | 160777 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | MYO5A CL E G H | 4644 | 79476 | | | | ORPHA | 0 | | 337 | 7602 | 160777 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | MYO5A CL E G H | 4644 | 79476 | | | | ORPHA | 0 | | 337 | 7602 | 160777 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | MYO5A CL E G H | 4644 | 79476 | | | | ORPHA | 0 | | 337 | 7602 | 160777 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | MYO5A CL E G H | 4644 | 79476 | | | | ORPHA | 0 | | 337 | 7602 | 160777 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | MYO5A CL E G H | 4644 | 79476 | | | | ORPHA | 0 | | 337 | 7602 | 160777 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | MYO5A CL E G H | 4644 | 79476 | | | | ORPHA | 0 | | 337 | 7602 | 160777 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | MYO5A CL E G H | 4644 | 79476 | | | | ORPHA | 0 | | 337 | 7602 | 160777 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | MYO5A CL E G H | 4644 | 79476 | | | | ORPHA | 0 | | 337 | 7602 | 160777 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | MYO5A CL E G H | 4644 | 79476 | | | | ORPHA | 0 | | 337 | 7602 | 160777 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | NHP2 CL E G H | 55651 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 196 | 14377 | 606470 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | NHP2 CL E G H | 55651 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 196 | 14377 | 606470 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | NHP2 CL E G H | 55651 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 196 | 14377 | 606470 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | NHP2 CL E G H | 55651 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 196 | 14377 | 606470 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | NHP2 CL E G H | 55651 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 196 | 14377 | 606470 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | NHP2 CL E G H | 55651 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 196 | 14377 | 606470 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | NHP2 CL E G H | 55651 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 196 | 14377 | 606470 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | NHP2 CL E G H | 55651 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 196 | 14377 | 606470 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | NHP2 CL E G H | 55651 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 196 | 14377 | 606470 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | NHP2 CL E G H | 55651 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 196 | 14377 | 606470 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | NHP2 CL E G H | 55651 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 196 | 14377 | 606470 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | NHP2 CL E G H | 55651 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 196 | 14377 | 606470 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | NHP2 CL E G H | 55651 | 613987 | Dyskeratosis congenita, autosomal recessive 2 | 613987 | C3151441 | OMIM | 0 | | 196 | 14377 | 606470 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | NHP2 CL E G H | 55651 | 613987 | Dyskeratosis congenita, autosomal recessive 2 | 613987 | C3151441 | OMIM | 0 | | 196 | 14377 | 606470 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | NHP2 CL E G H | 55651 | 613987 | Dyskeratosis congenita, autosomal recessive 2 | 613987 | C3151441 | OMIM | 0 | | 196 | 14377 | 606470 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | NHP2 CL E G H | 55651 | 613987 | Dyskeratosis congenita, autosomal recessive 2 | 613987 | C3151441 | OMIM | 0 | | 196 | 14377 | 606470 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | NHP2 CL E G H | 55651 | 613987 | Dyskeratosis congenita, autosomal recessive 2 | 613987 | C3151441 | OMIM | 0 | | 196 | 14377 | 606470 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | NHP2 CL E G H | 55651 | 613987 | Dyskeratosis congenita, autosomal recessive 2 | 613987 | C3151441 | OMIM | 0 | | 196 | 14377 | 606470 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | NHP2 CL E G H | 55651 | 613987 | Dyskeratosis congenita, autosomal recessive 2 | 613987 | C3151441 | OMIM | 0 | | 196 | 14377 | 606470 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | NHP2 CL E G H | 55651 | 613987 | Dyskeratosis congenita, autosomal recessive 2 | 613987 | C3151441 | OMIM | 0 | | 196 | 14377 | 606470 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | NHP2 CL E G H | 55651 | 613987 | Dyskeratosis congenita, autosomal recessive 2 | 613987 | C3151441 | OMIM | 0 | | 196 | 14377 | 606470 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | NHP2 CL E G H | 55651 | 613987 | Dyskeratosis congenita, autosomal recessive 2 | 613987 | C3151441 | OMIM | 0 | | 196 | 14377 | 606470 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | NHP2 CL E G H | 55651 | 613987 | Dyskeratosis congenita, autosomal recessive 2 | 613987 | C3151441 | OMIM | 0 | | 196 | 14377 | 606470 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | NHP2 CL E G H | 55651 | 613987 | Dyskeratosis congenita, autosomal recessive 2 | 613987 | C3151441 | OMIM | 0 | | 196 | 14377 | 606470 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | NOP10 CL E G H | 55505 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 102 | 14378 | 606471 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | NOP10 CL E G H | 55505 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 102 | 14378 | 606471 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | NOP10 CL E G H | 55505 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 102 | 14378 | 606471 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | NOP10 CL E G H | 55505 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 102 | 14378 | 606471 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | NOP10 CL E G H | 55505 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 102 | 14378 | 606471 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | NOP10 CL E G H | 55505 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 102 | 14378 | 606471 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | NOP10 CL E G H | 55505 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 102 | 14378 | 606471 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | NOP10 CL E G H | 55505 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 102 | 14378 | 606471 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | NOP10 CL E G H | 55505 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 102 | 14378 | 606471 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | NOP10 CL E G H | 55505 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 102 | 14378 | 606471 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | NOP10 CL E G H | 55505 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 102 | 14378 | 606471 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | NOP10 CL E G H | 55505 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 102 | 14378 | 606471 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | NRAS CL E G H | 4893 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 281 | 7989 | 164790 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | NRAS CL E G H | 4893 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 281 | 7989 | 164790 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | NRAS CL E G H | 4893 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 281 | 7989 | 164790 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | NRAS CL E G H | 4893 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 281 | 7989 | 164790 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | NRAS CL E G H | 4893 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 281 | 7989 | 164790 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | NRAS CL E G H | 4893 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 281 | 7989 | 164790 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | NRAS CL E G H | 4893 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 281 | 7989 | 164790 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | NRAS CL E G H | 4893 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 281 | 7989 | 164790 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | NRAS CL E G H | 4893 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 281 | 7989 | 164790 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | NRAS CL E G H | 4893 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 281 | 7989 | 164790 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | NRAS CL E G H | 4893 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 281 | 7989 | 164790 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | NRAS CL E G H | 4893 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 0 | | 281 | 7989 | 164790 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | PAH CL E G H | 5053 | 79254 | | | | ORPHA | 0 | | 1446 | 8582 | 612349 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | PAH CL E G H | 5053 | 79254 | | | | ORPHA | 0 | | 1446 | 8582 | 612349 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | PAH CL E G H | 5053 | 79254 | | | | ORPHA | 0 | | 1446 | 8582 | 612349 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | PAH CL E G H | 5053 | 79254 | | | | ORPHA | 0 | | 1446 | 8582 | 612349 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | PAH CL E G H | 5053 | 79254 | | | | ORPHA | 0 | | 1446 | 8582 | 612349 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | PAH CL E G H | 5053 | 79254 | | | | ORPHA | 0 | | 1446 | 8582 | 612349 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | PAH CL E G H | 5053 | 79254 | | | | ORPHA | 0 | | 1446 | 8582 | 612349 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | PAH CL E G H | 5053 | 79254 | | | | ORPHA | 0 | | 1446 | 8582 | 612349 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | PAH CL E G H | 5053 | 79254 | | | | ORPHA | 0 | | 1446 | 8582 | 612349 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | PAH CL E G H | 5053 | 79254 | | | | ORPHA | 0 | | 1446 | 8582 | 612349 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | PAH CL E G H | 5053 | 79254 | | | | ORPHA | 0 | | 1446 | 8582 | 612349 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | PAH CL E G H | 5053 | 79254 | | | | ORPHA | 0 | | 1446 | 8582 | 612349 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | PARN CL E G H | 5073 | 3322 | | | | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | PARN CL E G H | 5073 | 3322 | | | | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | PARN CL E G H | 5073 | 3322 | | | | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | PARN CL E G H | 5073 | 3322 | | | | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | PARN CL E G H | 5073 | 3322 | | | | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | PARN CL E G H | 5073 | 3322 | | | | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | PARN CL E G H | 5073 | 3322 | | | | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | PARN CL E G H | 5073 | 3322 | | | | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | PARN CL E G H | 5073 | 3322 | | | | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | PARN CL E G H | 5073 | 3322 | | | | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | PARN CL E G H | 5073 | 3322 | | | | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | PARN CL E G H | 5073 | 3322 | | | | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | PARN CL E G H | 5073 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | PARN CL E G H | 5073 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | PARN CL E G H | 5073 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | PARN CL E G H | 5073 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | PARN CL E G H | 5073 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | PARN CL E G H | 5073 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | PARN CL E G H | 5073 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | PARN CL E G H | 5073 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | PARN CL E G H | 5073 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | PARN CL E G H | 5073 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | PARN CL E G H | 5073 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | PARN CL E G H | 5073 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 627 | 8609 | 604212 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | PEX1 CL E G H | 5189 | 3220 | | | | ORPHA | 0 | | 1537 | 8850 | 602136 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | PEX1 CL E G H | 5189 | 3220 | | | | ORPHA | 0 | | 1537 | 8850 | 602136 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | PEX1 CL E G H | 5189 | 3220 | | | | ORPHA | 0 | | 1537 | 8850 | 602136 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | PEX1 CL E G H | 5189 | 3220 | | | | ORPHA | 0 | | 1537 | 8850 | 602136 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | PEX1 CL E G H | 5189 | 3220 | | | | ORPHA | 0 | | 1537 | 8850 | 602136 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | PEX1 CL E G H | 5189 | 3220 | | | | ORPHA | 0 | | 1537 | 8850 | 602136 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | PEX1 CL E G H | 5189 | 3220 | | | | ORPHA | 0 | | 1537 | 8850 | 602136 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | PEX1 CL E G H | 5189 | 3220 | | | | ORPHA | 0 | | 1537 | 8850 | 602136 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | PEX1 CL E G H | 5189 | 3220 | | | | ORPHA | 0 | | 1537 | 8850 | 602136 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | PEX1 CL E G H | 5189 | 3220 | | | | ORPHA | 0 | | 1537 | 8850 | 602136 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | PEX1 CL E G H | 5189 | 3220 | | | | ORPHA | 0 | | 1537 | 8850 | 602136 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | PEX1 CL E G H | 5189 | 3220 | | | | ORPHA | 0 | | 1537 | 8850 | 602136 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | PEX6 CL E G H | 5190 | 3220 | | | | ORPHA | 0 | | 1458 | 8859 | 601498 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | PEX6 CL E G H | 5190 | 3220 | | | | ORPHA | 0 | | 1458 | 8859 | 601498 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | PEX6 CL E G H | 5190 | 3220 | | | | ORPHA | 0 | | 1458 | 8859 | 601498 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | PEX6 CL E G H | 5190 | 3220 | | | | ORPHA | 0 | | 1458 | 8859 | 601498 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | PEX6 CL E G H | 5190 | 3220 | | | | ORPHA | 0 | | 1458 | 8859 | 601498 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | PEX6 CL E G H | 5190 | 3220 | | | | ORPHA | 0 | | 1458 | 8859 | 601498 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | PEX6 CL E G H | 5190 | 3220 | | | | ORPHA | 0 | | 1458 | 8859 | 601498 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | PEX6 CL E G H | 5190 | 3220 | | | | ORPHA | 0 | | 1458 | 8859 | 601498 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | PEX6 CL E G H | 5190 | 3220 | | | | ORPHA | 0 | | 1458 | 8859 | 601498 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | PEX6 CL E G H | 5190 | 3220 | | | | ORPHA | 0 | | 1458 | 8859 | 601498 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | PEX6 CL E G H | 5190 | 3220 | | | | ORPHA | 0 | | 1458 | 8859 | 601498 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | PEX6 CL E G H | 5190 | 3220 | | | | ORPHA | 0 | | 1458 | 8859 | 601498 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | PHGDH CL E G H | 26227 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 0 | | 694 | 8923 | 606879 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | PHGDH CL E G H | 26227 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 0 | | 694 | 8923 | 606879 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | PHGDH CL E G H | 26227 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 0 | | 694 | 8923 | 606879 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | PHGDH CL E G H | 26227 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 0 | | 694 | 8923 | 606879 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | PHGDH CL E G H | 26227 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 0 | | 694 | 8923 | 606879 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | PHGDH CL E G H | 26227 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 0 | | 694 | 8923 | 606879 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | PHGDH CL E G H | 26227 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 0 | | 694 | 8923 | 606879 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | PHGDH CL E G H | 26227 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 0 | | 694 | 8923 | 606879 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | PHGDH CL E G H | 26227 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 0 | | 694 | 8923 | 606879 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | PHGDH CL E G H | 26227 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 0 | | 694 | 8923 | 606879 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | PHGDH CL E G H | 26227 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 0 | | 694 | 8923 | 606879 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | PHGDH CL E G H | 26227 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 0 | | 694 | 8923 | 606879 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | PSAT1 CL E G H | 29968 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 0 | | 498 | 19129 | 610936 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | PSAT1 CL E G H | 29968 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 0 | | 498 | 19129 | 610936 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | PSAT1 CL E G H | 29968 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 0 | | 498 | 19129 | 610936 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | PSAT1 CL E G H | 29968 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 0 | | 498 | 19129 | 610936 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | PSAT1 CL E G H | 29968 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 0 | | 498 | 19129 | 610936 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | PSAT1 CL E G H | 29968 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 0 | | 498 | 19129 | 610936 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | PSAT1 CL E G H | 29968 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 0 | | 498 | 19129 | 610936 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | PSAT1 CL E G H | 29968 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 0 | | 498 | 19129 | 610936 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | PSAT1 CL E G H | 29968 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 0 | | 498 | 19129 | 610936 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | PSAT1 CL E G H | 29968 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 0 | | 498 | 19129 | 610936 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | PSAT1 CL E G H | 29968 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 0 | | 498 | 19129 | 610936 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | PSAT1 CL E G H | 29968 | 2671 | Herrmann Opitz craniosynostosis | | | ORPHA | 0 | | 498 | 19129 | 610936 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | RNASET2 CL E G H | 8635 | 612951 | Leukoencephalopathy, cystic, without megalencephaly | 612951 | C2751843 | OMIM | 0 | | 199 | 21686 | 612944 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | RNASET2 CL E G H | 8635 | 612951 | Leukoencephalopathy, cystic, without megalencephaly | 612951 | C2751843 | OMIM | 0 | | 199 | 21686 | 612944 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | RNASET2 CL E G H | 8635 | 612951 | Leukoencephalopathy, cystic, without megalencephaly | 612951 | C2751843 | OMIM | 0 | | 199 | 21686 | 612944 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | RNASET2 CL E G H | 8635 | 612951 | Leukoencephalopathy, cystic, without megalencephaly | 612951 | C2751843 | OMIM | 0 | | 199 | 21686 | 612944 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | RNASET2 CL E G H | 8635 | 612951 | Leukoencephalopathy, cystic, without megalencephaly | 612951 | C2751843 | OMIM | 0 | | 199 | 21686 | 612944 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | RNASET2 CL E G H | 8635 | 612951 | Leukoencephalopathy, cystic, without megalencephaly | 612951 | C2751843 | OMIM | 0 | | 199 | 21686 | 612944 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | RNASET2 CL E G H | 8635 | 612951 | Leukoencephalopathy, cystic, without megalencephaly | 612951 | C2751843 | OMIM | 0 | | 199 | 21686 | 612944 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | RNASET2 CL E G H | 8635 | 612951 | Leukoencephalopathy, cystic, without megalencephaly | 612951 | C2751843 | OMIM | 0 | | 199 | 21686 | 612944 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | RNASET2 CL E G H | 8635 | 612951 | Leukoencephalopathy, cystic, without megalencephaly | 612951 | C2751843 | OMIM | 0 | | 199 | 21686 | 612944 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | RNASET2 CL E G H | 8635 | 612951 | Leukoencephalopathy, cystic, without megalencephaly | 612951 | C2751843 | OMIM | 0 | | 199 | 21686 | 612944 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | RNASET2 CL E G H | 8635 | 612951 | Leukoencephalopathy, cystic, without megalencephaly | 612951 | C2751843 | OMIM | 0 | | 199 | 21686 | 612944 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | RNASET2 CL E G H | 8635 | 612951 | Leukoencephalopathy, cystic, without megalencephaly | 612951 | C2751843 | OMIM | 0 | | 199 | 21686 | 612944 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | RTEL1 CL E G H | 51750 | 3322 | | | | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | RTEL1 CL E G H | 51750 | 3322 | | | | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | RTEL1 CL E G H | 51750 | 3322 | | | | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | RTEL1 CL E G H | 51750 | 3322 | | | | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | RTEL1 CL E G H | 51750 | 3322 | | | | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | RTEL1 CL E G H | 51750 | 3322 | | | | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | RTEL1 CL E G H | 51750 | 3322 | | | | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | RTEL1 CL E G H | 51750 | 3322 | | | | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | RTEL1 CL E G H | 51750 | 3322 | | | | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | RTEL1 CL E G H | 51750 | 3322 | | | | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | RTEL1 CL E G H | 51750 | 3322 | | | | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | RTEL1 CL E G H | 51750 | 3322 | | | | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | RTEL1 CL E G H | 51750 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | RTEL1 CL E G H | 51750 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | RTEL1 CL E G H | 51750 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | RTEL1 CL E G H | 51750 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | RTEL1 CL E G H | 51750 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | RTEL1 CL E G H | 51750 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | RTEL1 CL E G H | 51750 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | RTEL1 CL E G H | 51750 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | RTEL1 CL E G H | 51750 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | RTEL1 CL E G H | 51750 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | RTEL1 CL E G H | 51750 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | RTEL1 CL E G H | 51750 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2597 | 15888 | 608833 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | SLC16A2 CL E G H | 6567 | 59 | | | | ORPHA | 0 | | 427 | 10923 | 300095 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | SLC16A2 CL E G H | 6567 | 59 | | | | ORPHA | 0 | | 427 | 10923 | 300095 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | SLC16A2 CL E G H | 6567 | 59 | | | | ORPHA | 0 | | 427 | 10923 | 300095 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | SLC16A2 CL E G H | 6567 | 59 | | | | ORPHA | 0 | | 427 | 10923 | 300095 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | SLC16A2 CL E G H | 6567 | 59 | | | | ORPHA | 0 | | 427 | 10923 | 300095 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | SLC16A2 CL E G H | 6567 | 59 | | | | ORPHA | 0 | | 427 | 10923 | 300095 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | SLC16A2 CL E G H | 6567 | 59 | | | | ORPHA | 0 | | 427 | 10923 | 300095 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | SLC16A2 CL E G H | 6567 | 59 | | | | ORPHA | 0 | | 427 | 10923 | 300095 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | SLC16A2 CL E G H | 6567 | 59 | | | | ORPHA | 0 | | 427 | 10923 | 300095 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | SLC16A2 CL E G H | 6567 | 59 | | | | ORPHA | 0 | | 427 | 10923 | 300095 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | SLC16A2 CL E G H | 6567 | 59 | | | | ORPHA | 0 | | 427 | 10923 | 300095 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | SLC16A2 CL E G H | 6567 | 59 | | | | ORPHA | 0 | | 427 | 10923 | 300095 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | SLC26A2 CL E G H | 1836 | 628 | | | | ORPHA | 0 | | 688 | 10994 | 606718 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | SLC26A2 CL E G H | 1836 | 628 | | | | ORPHA | 0 | | 688 | 10994 | 606718 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | SLC26A2 CL E G H | 1836 | 628 | | | | ORPHA | 0 | | 688 | 10994 | 606718 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | SLC26A2 CL E G H | 1836 | 628 | | | | ORPHA | 0 | | 688 | 10994 | 606718 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | SLC26A2 CL E G H | 1836 | 628 | | | | ORPHA | 0 | | 688 | 10994 | 606718 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | SLC26A2 CL E G H | 1836 | 628 | | | | ORPHA | 0 | | 688 | 10994 | 606718 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | SLC26A2 CL E G H | 1836 | 628 | | | | ORPHA | 0 | | 688 | 10994 | 606718 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | SLC26A2 CL E G H | 1836 | 628 | | | | ORPHA | 0 | | 688 | 10994 | 606718 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | SLC26A2 CL E G H | 1836 | 628 | | | | ORPHA | 0 | | 688 | 10994 | 606718 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | SLC26A2 CL E G H | 1836 | 628 | | | | ORPHA | 0 | | 688 | 10994 | 606718 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | SLC26A2 CL E G H | 1836 | 628 | | | | ORPHA | 0 | | 688 | 10994 | 606718 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | SLC26A2 CL E G H | 1836 | 628 | | | | ORPHA | 0 | | 688 | 10994 | 606718 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | SLC46A1 CL E G H | 113235 | 90045 | | | | ORPHA | 0 | | 329 | 30521 | 611672 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | SLC46A1 CL E G H | 113235 | 90045 | | | | ORPHA | 0 | | 329 | 30521 | 611672 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | SLC46A1 CL E G H | 113235 | 90045 | | | | ORPHA | 0 | | 329 | 30521 | 611672 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | SLC46A1 CL E G H | 113235 | 90045 | | | | ORPHA | 0 | | 329 | 30521 | 611672 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | SLC46A1 CL E G H | 113235 | 90045 | | | | ORPHA | 0 | | 329 | 30521 | 611672 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | SLC46A1 CL E G H | 113235 | 90045 | | | | ORPHA | 0 | | 329 | 30521 | 611672 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | SLC46A1 CL E G H | 113235 | 90045 | | | | ORPHA | 0 | | 329 | 30521 | 611672 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | SLC46A1 CL E G H | 113235 | 90045 | | | | ORPHA | 0 | | 329 | 30521 | 611672 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | SLC46A1 CL E G H | 113235 | 90045 | | | | ORPHA | 0 | | 329 | 30521 | 611672 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | SLC46A1 CL E G H | 113235 | 90045 | | | | ORPHA | 0 | | 329 | 30521 | 611672 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | SLC46A1 CL E G H | 113235 | 90045 | | | | ORPHA | 0 | | 329 | 30521 | 611672 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | SLC46A1 CL E G H | 113235 | 90045 | | | | ORPHA | 0 | | 329 | 30521 | 611672 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | SMARCB1 CL E G H | 6598 | 99966 | | | | ORPHA | 0 | | 1043 | 11103 | 601607 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | SMARCB1 CL E G H | 6598 | 99966 | | | | ORPHA | 0 | | 1043 | 11103 | 601607 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | SMARCB1 CL E G H | 6598 | 99966 | | | | ORPHA | 0 | | 1043 | 11103 | 601607 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | SMARCB1 CL E G H | 6598 | 99966 | | | | ORPHA | 0 | | 1043 | 11103 | 601607 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | SMARCB1 CL E G H | 6598 | 99966 | | | | ORPHA | 0 | | 1043 | 11103 | 601607 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | SMARCB1 CL E G H | 6598 | 99966 | | | | ORPHA | 0 | | 1043 | 11103 | 601607 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | SMARCB1 CL E G H | 6598 | 99966 | | | | ORPHA | 0 | | 1043 | 11103 | 601607 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | SMARCB1 CL E G H | 6598 | 99966 | | | | ORPHA | 0 | | 1043 | 11103 | 601607 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | SMARCB1 CL E G H | 6598 | 99966 | | | | ORPHA | 0 | | 1043 | 11103 | 601607 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | SMARCB1 CL E G H | 6598 | 99966 | | | | ORPHA | 0 | | 1043 | 11103 | 601607 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | SMARCB1 CL E G H | 6598 | 99966 | | | | ORPHA | 0 | | 1043 | 11103 | 601607 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | SMARCB1 CL E G H | 6598 | 99966 | | | | ORPHA | 0 | | 1043 | 11103 | 601607 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | SNRPB CL E G H | 6628 | 1393 | | | | ORPHA | 0 | | 117 | 11153 | 182282 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | SNRPB CL E G H | 6628 | 1393 | | | | ORPHA | 0 | | 117 | 11153 | 182282 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | SNRPB CL E G H | 6628 | 1393 | | | | ORPHA | 0 | | 117 | 11153 | 182282 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | SNRPB CL E G H | 6628 | 1393 | | | | ORPHA | 0 | | 117 | 11153 | 182282 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | SNRPB CL E G H | 6628 | 1393 | | | | ORPHA | 0 | | 117 | 11153 | 182282 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | SNRPB CL E G H | 6628 | 1393 | | | | ORPHA | 0 | | 117 | 11153 | 182282 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | SNRPB CL E G H | 6628 | 1393 | | | | ORPHA | 0 | | 117 | 11153 | 182282 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | SNRPB CL E G H | 6628 | 1393 | | | | ORPHA | 0 | | 117 | 11153 | 182282 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | SNRPB CL E G H | 6628 | 1393 | | | | ORPHA | 0 | | 117 | 11153 | 182282 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | SNRPB CL E G H | 6628 | 1393 | | | | ORPHA | 0 | | 117 | 11153 | 182282 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | SNRPB CL E G H | 6628 | 1393 | | | | ORPHA | 0 | | 117 | 11153 | 182282 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | SNRPB CL E G H | 6628 | 1393 | | | | ORPHA | 0 | | 117 | 11153 | 182282 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | TERC CL E G H | 7012 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 358 | 11727 | 602322 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | TERC CL E G H | 7012 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 358 | 11727 | 602322 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | TERC CL E G H | 7012 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 358 | 11727 | 602322 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | TERC CL E G H | 7012 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 358 | 11727 | 602322 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | TERC CL E G H | 7012 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 358 | 11727 | 602322 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | TERC CL E G H | 7012 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 358 | 11727 | 602322 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | TERC CL E G H | 7012 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 358 | 11727 | 602322 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | TERC CL E G H | 7012 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 358 | 11727 | 602322 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | TERC CL E G H | 7012 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 358 | 11727 | 602322 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | TERC CL E G H | 7012 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 358 | 11727 | 602322 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | TERC CL E G H | 7012 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 358 | 11727 | 602322 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | TERC CL E G H | 7012 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 358 | 11727 | 602322 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | TERT CL E G H | 7015 | 3322 | | | | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | TERT CL E G H | 7015 | 3322 | | | | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | TERT CL E G H | 7015 | 3322 | | | | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | TERT CL E G H | 7015 | 3322 | | | | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | TERT CL E G H | 7015 | 3322 | | | | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | TERT CL E G H | 7015 | 3322 | | | | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | TERT CL E G H | 7015 | 3322 | | | | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | TERT CL E G H | 7015 | 3322 | | | | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | TERT CL E G H | 7015 | 3322 | | | | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | TERT CL E G H | 7015 | 3322 | | | | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | TERT CL E G H | 7015 | 3322 | | | | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | TERT CL E G H | 7015 | 3322 | | | | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | TERT CL E G H | 7015 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | TERT CL E G H | 7015 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | TERT CL E G H | 7015 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | TERT CL E G H | 7015 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | TERT CL E G H | 7015 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | TERT CL E G H | 7015 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | TERT CL E G H | 7015 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | TERT CL E G H | 7015 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | TERT CL E G H | 7015 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | TERT CL E G H | 7015 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | TERT CL E G H | 7015 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | TERT CL E G H | 7015 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 2810 | 11730 | 187270 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | TINF2 CL E G H | 26277 | 3322 | | | | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | TINF2 CL E G H | 26277 | 3322 | | | | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | TINF2 CL E G H | 26277 | 3322 | | | | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | TINF2 CL E G H | 26277 | 3322 | | | | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | TINF2 CL E G H | 26277 | 3322 | | | | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | TINF2 CL E G H | 26277 | 3322 | | | | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | TINF2 CL E G H | 26277 | 3322 | | | | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | TINF2 CL E G H | 26277 | 3322 | | | | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | TINF2 CL E G H | 26277 | 3322 | | | | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | TINF2 CL E G H | 26277 | 3322 | | | | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | TINF2 CL E G H | 26277 | 3322 | | | | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | TINF2 CL E G H | 26277 | 3322 | | | | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | TINF2 CL E G H | 26277 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | TINF2 CL E G H | 26277 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | TINF2 CL E G H | 26277 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | TINF2 CL E G H | 26277 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | TINF2 CL E G H | 26277 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | TINF2 CL E G H | 26277 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | TINF2 CL E G H | 26277 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | TINF2 CL E G H | 26277 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | TINF2 CL E G H | 26277 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | TINF2 CL E G H | 26277 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | TINF2 CL E G H | 26277 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | TINF2 CL E G H | 26277 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 411 | 11824 | 604319 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | TSC1 CL E G H | 7248 | 805 | | | | ORPHA | 0 | | 4172 | 12362 | 605284 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | TSC1 CL E G H | 7248 | 805 | | | | ORPHA | 0 | | 4172 | 12362 | 605284 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | TSC1 CL E G H | 7248 | 805 | | | | ORPHA | 0 | | 4172 | 12362 | 605284 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | TSC1 CL E G H | 7248 | 805 | | | | ORPHA | 0 | | 4172 | 12362 | 605284 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | TSC1 CL E G H | 7248 | 805 | | | | ORPHA | 0 | | 4172 | 12362 | 605284 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | TSC1 CL E G H | 7248 | 805 | | | | ORPHA | 0 | | 4172 | 12362 | 605284 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | TSC1 CL E G H | 7248 | 805 | | | | ORPHA | 0 | | 4172 | 12362 | 605284 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | TSC1 CL E G H | 7248 | 805 | | | | ORPHA | 0 | | 4172 | 12362 | 605284 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | TSC1 CL E G H | 7248 | 805 | | | | ORPHA | 0 | | 4172 | 12362 | 605284 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | TSC1 CL E G H | 7248 | 805 | | | | ORPHA | 0 | | 4172 | 12362 | 605284 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | TSC1 CL E G H | 7248 | 805 | | | | ORPHA | 0 | | 4172 | 12362 | 605284 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | TSC1 CL E G H | 7248 | 805 | | | | ORPHA | 0 | | 4172 | 12362 | 605284 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | TSC2 CL E G H | 7249 | 805 | | | | ORPHA | 0 | | 9638 | 12363 | 191092 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | TSC2 CL E G H | 7249 | 805 | | | | ORPHA | 0 | | 9638 | 12363 | 191092 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | TSC2 CL E G H | 7249 | 805 | | | | ORPHA | 0 | | 9638 | 12363 | 191092 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | TSC2 CL E G H | 7249 | 805 | | | | ORPHA | 0 | | 9638 | 12363 | 191092 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | TSC2 CL E G H | 7249 | 805 | | | | ORPHA | 0 | | 9638 | 12363 | 191092 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | TSC2 CL E G H | 7249 | 805 | | | | ORPHA | 0 | | 9638 | 12363 | 191092 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | TSC2 CL E G H | 7249 | 805 | | | | ORPHA | 0 | | 9638 | 12363 | 191092 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | TSC2 CL E G H | 7249 | 805 | | | | ORPHA | 0 | | 9638 | 12363 | 191092 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | TSC2 CL E G H | 7249 | 805 | | | | ORPHA | 0 | | 9638 | 12363 | 191092 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | TSC2 CL E G H | 7249 | 805 | | | | ORPHA | 0 | | 9638 | 12363 | 191092 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | TSC2 CL E G H | 7249 | 805 | | | | ORPHA | 0 | | 9638 | 12363 | 191092 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | TSC2 CL E G H | 7249 | 805 | | | | ORPHA | 0 | | 9638 | 12363 | 191092 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | USB1 CL E G H | 79650 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 282 | 25792 | 613276 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | USB1 CL E G H | 79650 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 282 | 25792 | 613276 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | USB1 CL E G H | 79650 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 282 | 25792 | 613276 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | USB1 CL E G H | 79650 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 282 | 25792 | 613276 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | USB1 CL E G H | 79650 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 282 | 25792 | 613276 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | USB1 CL E G H | 79650 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 282 | 25792 | 613276 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | USB1 CL E G H | 79650 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 282 | 25792 | 613276 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | USB1 CL E G H | 79650 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 282 | 25792 | 613276 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | USB1 CL E G H | 79650 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 282 | 25792 | 613276 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | USB1 CL E G H | 79650 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 282 | 25792 | 613276 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | USB1 CL E G H | 79650 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 282 | 25792 | 613276 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | USB1 CL E G H | 79650 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 282 | 25792 | 613276 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | VPS33A CL E G H | 65082 | 617303 | Mucopolysaccharidosis-plus syndrome | 617303 | C4310627 | OMIM | 0 | | 274 | 18179 | 610034 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | VPS33A CL E G H | 65082 | 617303 | Mucopolysaccharidosis-plus syndrome | 617303 | C4310627 | OMIM | 0 | | 274 | 18179 | 610034 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | VPS33A CL E G H | 65082 | 617303 | Mucopolysaccharidosis-plus syndrome | 617303 | C4310627 | OMIM | 0 | | 274 | 18179 | 610034 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | VPS33A CL E G H | 65082 | 617303 | Mucopolysaccharidosis-plus syndrome | 617303 | C4310627 | OMIM | 0 | | 274 | 18179 | 610034 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | VPS33A CL E G H | 65082 | 617303 | Mucopolysaccharidosis-plus syndrome | 617303 | C4310627 | OMIM | 0 | | 274 | 18179 | 610034 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | VPS33A CL E G H | 65082 | 617303 | Mucopolysaccharidosis-plus syndrome | 617303 | C4310627 | OMIM | 0 | | 274 | 18179 | 610034 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | VPS33A CL E G H | 65082 | 617303 | Mucopolysaccharidosis-plus syndrome | 617303 | C4310627 | OMIM | 0 | | 274 | 18179 | 610034 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | VPS33A CL E G H | 65082 | 617303 | Mucopolysaccharidosis-plus syndrome | 617303 | C4310627 | OMIM | 0 | | 274 | 18179 | 610034 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | VPS33A CL E G H | 65082 | 617303 | Mucopolysaccharidosis-plus syndrome | 617303 | C4310627 | OMIM | 0 | | 274 | 18179 | 610034 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | VPS33A CL E G H | 65082 | 617303 | Mucopolysaccharidosis-plus syndrome | 617303 | C4310627 | OMIM | 0 | | 274 | 18179 | 610034 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | VPS33A CL E G H | 65082 | 617303 | Mucopolysaccharidosis-plus syndrome | 617303 | C4310627 | OMIM | 0 | | 274 | 18179 | 610034 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | VPS33A CL E G H | 65082 | 617303 | Mucopolysaccharidosis-plus syndrome | 617303 | C4310627 | OMIM | 0 | | 274 | 18179 | 610034 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | WRAP53 CL E G H | 55135 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 484 | 25522 | 612661 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | WRAP53 CL E G H | 55135 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 484 | 25522 | 612661 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | WRAP53 CL E G H | 55135 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 484 | 25522 | 612661 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | WRAP53 CL E G H | 55135 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 484 | 25522 | 612661 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | WRAP53 CL E G H | 55135 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 484 | 25522 | 612661 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | WRAP53 CL E G H | 55135 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 484 | 25522 | 612661 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | WRAP53 CL E G H | 55135 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 484 | 25522 | 612661 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | WRAP53 CL E G H | 55135 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 484 | 25522 | 612661 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | WRAP53 CL E G H | 55135 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 484 | 25522 | 612661 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | WRAP53 CL E G H | 55135 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 484 | 25522 | 612661 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | WRAP53 CL E G H | 55135 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 484 | 25522 | 612661 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | WRAP53 CL E G H | 55135 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 484 | 25522 | 612661 |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | ZBTB20 CL E G H | 26137 | 259050 | Primrose syndrome | 259050 | C0796121 | OMIM | 0 | | 252 | 13503 | 606025 |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | ZBTB20 CL E G H | 26137 | 259050 | Primrose syndrome | 259050 | C0796121 | OMIM | 0 | | 252 | 13503 | 606025 |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | ZBTB20 CL E G H | 26137 | 259050 | Primrose syndrome | 259050 | C0796121 | OMIM | 0 | | 252 | 13503 | 606025 |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | ZBTB20 CL E G H | 26137 | 259050 | Primrose syndrome | 259050 | C0796121 | OMIM | 0 | | 252 | 13503 | 606025 |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | ZBTB20 CL E G H | 26137 | 259050 | Primrose syndrome | 259050 | C0796121 | OMIM | 0 | | 252 | 13503 | 606025 |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | ZBTB20 CL E G H | 26137 | 259050 | Primrose syndrome | 259050 | C0796121 | OMIM | 0 | | 252 | 13503 | 606025 |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | ZBTB20 CL E G H | 26137 | 259050 | Primrose syndrome | 259050 | C0796121 | OMIM | 0 | | 252 | 13503 | 606025 |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | ZBTB20 CL E G H | 26137 | 259050 | Primrose syndrome | 259050 | C0796121 | OMIM | 0 | | 252 | 13503 | 606025 |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | ZBTB20 CL E G H | 26137 | 259050 | Primrose syndrome | 259050 | C0796121 | OMIM | 0 | | 252 | 13503 | 606025 |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | ZBTB20 CL E G H | 26137 | 259050 | Primrose syndrome | 259050 | C0796121 | OMIM | 0 | | 252 | 13503 | 606025 |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | ZBTB20 CL E G H | 26137 | 259050 | Primrose syndrome | 259050 | C0796121 | OMIM | 0 | | 252 | 13503 | 606025 |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | ZBTB20 CL E G H | 26137 | 259050 | Primrose syndrome | 259050 | C0796121 | OMIM | 0 | | 252 | 13503 | 606025 |