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:0000726 | HP:0000726 | Dementia | 0 | AARS2 CL E G H | 57505 | 615889 | Leukoencephalopathy, progressive, with ovarian failure | 615889 | C4014588 | OMIM | 1 | | 543 | 21022 | 612035 |
HP:0000726 | HP:0000726 | Dementia | 0 | ABCD1 CL E G H | 215 | 300100 | Adrenoleukodystrophy | 300100 | C0162309 | OMIM | 1 | | 1492 | 61 | 300371 |
HP:0000726 | HP:0000726 | Dementia | 0 | ADA2 CL E G H | 51816 | 820 | | | | ORPHA | 1 | | 533 | 1839 | 607575 |
HP:0000726 | HP:0000726 | Dementia | 0 | AMN CL E G H | 81693 | 261100 | Megaloblastic anemia due to inborn errors of metabolism | 261100 | C1306856 | OMIM | 1 | | 298 | 14604 | 605799 |
HP:0000726 | HP:0000726 | Dementia | 0 | APOE CL E G H | 348 | 104310 | Alzheimer disease 2 | 104310 | C1863051 | OMIM | 1 | | 166 | 613 | 107741 |
HP:0000726 | HP:0000726 | Dementia | 0 | APOE CL E G H | 348 | 606889 | Alzheimer disease, type 4 | 606889 | C1847200 | OMIM | 1 | | 166 | 613 | 107741 |
HP:0000726 | HP:0000726 | Dementia | 0 | APP CL E G H | 351 | 100006 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0000726 | HP:0000726 | Dementia | 0 | APP CL E G H | 351 | 324713 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0000726 | HP:0000726 | Dementia | 0 | APP CL E G H | 351 | 324703 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0000726 | HP:0000726 | Dementia | 0 | APP CL E G H | 351 | 324708 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0000726 | HP:0000726 | Dementia | 0 | APP CL E G H | 351 | 104300 | Alzheimer's disease | 104300 | C0002395 | OMIM | 1 | | 506 | 620 | 104760 |
HP:0000726 | HP:0000726 | Dementia | 0 | APP CL E G H | 351 | 605714 | Cerebral amyloid angiopathy, APP-related | 605714 | C2751536 | OMIM | 1 | | 506 | 620 | 104760 |
HP:0000726 | HP:0000726 | Dementia | 0 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 331 | 15984 | 606350 |
HP:0000726 | HP:0000726 | Dementia | 0 | ARSA CL E G H | 410 | 309271 | | | | ORPHA | 1 | | 1140 | 713 | 607574 |
HP:0000726 | HP:0000726 | Dementia | 0 | ASAH1 CL E G H | 427 | 2590 | | | | ORPHA | 1 | | 913 | 735 | 613468 |
HP:0000726 | HP:0000726 | Dementia | 0 | ASAH1 CL E G H | 427 | 159950 | Jankovic Rivera syndrome | 159950 | C1834569 | OMIM | 1 | | 913 | 735 | 613468 |
HP:0000726 | HP:0000726 | Dementia | 0 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 213 | 3033 | 607462 |
HP:0000726 | HP:0000726 | Dementia | 0 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0000726 | HP:0000726 | Dementia | 0 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 974 | 30213 | 610513 |
HP:0000726 | HP:0000726 | Dementia | 0 | ATP6V0A2 CL E G H | 23545 | 357074 | | | | ORPHA | 1 | | 610 | 18481 | 611716 |
HP:0000726 | HP:0000726 | Dementia | 0 | ATP6V1A CL E G H | 523 | 357074 | | | | ORPHA | 1 | | 229 | 851 | 607027 |
HP:0000726 | HP:0000726 | Dementia | 0 | ATP6V1E1 CL E G H | 529 | 357074 | | | | ORPHA | 1 | | 196 | 857 | 108746 |
HP:0000726 | HP:0000726 | Dementia | 0 | ATP7B CL E G H | 540 | 277900 | Wilson disease | 277900 | C0019202 | OMIM | 1 | | 2303 | 870 | 606882 |
HP:0000726 | HP:0000726 | Dementia | 0 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 116 | 10549 | 611150 |
HP:0000726 | HP:0000726 | Dementia | 0 | ATXN2 CL E G H | 6311 | 98756 | | | | ORPHA | 1 | | 115 | 10555 | 601517 |
HP:0000726 | HP:0000726 | Dementia | 0 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 115 | 10555 | 601517 |
HP:0000726 | HP:0000726 | Dementia | 0 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 65 | 7106 | 607047 |
HP:0000726 | HP:0000726 | Dementia | 0 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 307 | 25443 | 614297 |
HP:0000726 | HP:0000726 | Dementia | 0 | C9orf72 CL E G H | 203228 | 100069 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0000726 | HP:0000726 | Dementia | 0 | CERS1 CL E G H | 10715 | 616230 | Epilepsy, progressive myoclonic 8 | 616230 | C4015619 | OMIM | 1 | | 411 | 14253 | 606919 |
HP:0000726 | HP:0000726 | Dementia | 0 | CHMP2B CL E G H | 25978 | 100069 | | | | ORPHA | 1 | | 160 | 24537 | 609512 |
HP:0000726 | HP:0000726 | Dementia | 0 | CLN3 CL E G H | 1201 | 204200 | Juvenile neuronal ceroid lipofuscinosis | 204200 | C0751383 | OMIM | 1 | | 1015 | 2074 | 607042 |
HP:0000726 | HP:0000726 | Dementia | 0 | CLN6 CL E G H | 54982 | 204300 | Adult neuronal ceroid lipofuscinosis | 204300 | C0022797 | OMIM | 1 | | 661 | 2077 | 606725 |
HP:0000726 | HP:0000726 | Dementia | 0 | CP CL E G H | 1356 | 48818 | | | | ORPHA | 1 | | 831 | 2295 | 117700 |
HP:0000726 | HP:0000726 | Dementia | 0 | CST3 CL E G H | 1471 | 105150 | Hereditary cerebral amyloid angiopathy, Icelandic type | 105150 | C1527338 | OMIM | 1 | | 54 | 2475 | 604312 |
HP:0000726 | HP:0000726 | Dementia | 0 | CTSF CL E G H | 8722 | 615362 | Ceroid lipofuscinosis, neuronal, 13 | 615362 | C3715049 | OMIM | 1 | | 218 | 2531 | 603539 |
HP:0000726 | HP:0000726 | Dementia | 0 | CUBN CL E G H | 8029 | 261100 | Megaloblastic anemia due to inborn errors of metabolism | 261100 | C1306856 | OMIM | 1 | | 1581 | 2548 | 602997 |
HP:0000726 | HP:0000726 | Dementia | 0 | CYP27A1 CL E G H | 1593 | 213700 | Cholestanol storage disease | 213700 | C0238052 | OMIM | 1 | | 940 | 2605 | 606530 |
HP:0000726 | HP:0000726 | Dementia | 0 | DNAJC5 CL E G H | 80331 | 162350 | Ceroid lipofuscinosis neuronal 4B autosomal dominant | 162350 | C1834207 | OMIM | 1 | | 428 | 16235 | 611203 |
HP:0000726 | HP:0000726 | Dementia | 0 | DNMT1 CL E G H | 1786 | 604121 | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant | 604121 | C1858804 | OMIM | 1 | | 1196 | 2976 | 126375 |
HP:0000726 | HP:0000726 | Dementia | 0 | DNMT1 CL E G H | 1786 | 614116 | Hereditary sensory neuropathy type IE | 614116 | C3279885 | OMIM | 1 | | 1196 | 2976 | 126375 |
HP:0000726 | HP:0000726 | Dementia | 0 | EPM2A CL E G H | 7957 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 416 | 3413 | 607566 |
HP:0000726 | HP:0000726 | Dementia | 0 | ERCC8 CL E G H | 1161 | 216400 | Cockayne syndrome type A | 216400 | C0751039 | OMIM | 1 | | 484 | 3439 | 609412 |
HP:0000726 | HP:0000726 | Dementia | 0 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 1 | | 371 | 3775 | 309550 |
HP:0000726 | HP:0000726 | Dementia | 0 | FMR1 CL E G H | 2332 | 300623 | Fragile X tremor/ataxia syndrome | 300623 | C1839780 | OMIM | 1 | | 371 | 3775 | 309550 |
HP:0000726 | HP:0000726 | Dementia | 0 | GBA CL E G H | 2629 | 77261 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0000726 | HP:0000726 | Dementia | 0 | GBA CL E G H | 2629 | 231000 | Subacute neuronopathic Gaucher's disease | 231000 | C0268251 | OMIM | 1 | | | 4177 | 606463 |
HP:0000726 | HP:0000726 | Dementia | 0 | GM2A CL E G H | 2760 | 272750 | Tay-Sachs disease, variant AB | 272750 | C0268275 | OMIM | 1 | | 212 | 4367 | 613109 |
HP:0000726 | HP:0000726 | Dementia | 0 | GRN CL E G H | 2896 | 100069 | | | | ORPHA | 1 | | 594 | 4601 | 138945 |
HP:0000726 | HP:0000726 | Dementia | 0 | HEXA CL E G H | 3073 | 272800 | Tay-Sachs disease | 272800 | C0039373 | OMIM | 1 | | 1002 | 4878 | 606869 |
HP:0000726 | HP:0000726 | Dementia | 0 | HTRA1 CL E G H | 5654 | 616779 | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | 616779 | C4225211 | OMIM | 1 | | 285 | 9476 | 602194 |
HP:0000726 | HP:0000726 | Dementia | 0 | HTRA1 CL E G H | 5654 | 600142 | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy | 600142 | C1838577 | OMIM | 1 | | 285 | 9476 | 602194 |
HP:0000726 | HP:0000726 | Dementia | 0 | HTT CL E G H | 3064 | 248111 | | | | ORPHA | 1 | | 760 | 4851 | 613004 |
HP:0000726 | HP:0000726 | Dementia | 0 | HTT CL E G H | 3064 | 399 | 46,XX testicular disorder of sex development | | C2936420 | ORPHA | 1 | | 760 | 4851 | 613004 |
HP:0000726 | HP:0000726 | Dementia | 0 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 760 | 4851 | 613004 |
HP:0000726 | HP:0000726 | Dementia | 0 | IRF6 CL E G H | 3664 | 119500 | Popliteal pterygium syndrome | 119500 | C0265259 | OMIM | 1 | | 317 | 6121 | 607199 |
HP:0000726 | HP:0000726 | Dementia | 0 | ITM2B CL E G H | 9445 | 176500 | Dementia familial British | 176500 | C1867773 | OMIM | 1 | | 177 | 6174 | 603904 |
HP:0000726 | HP:0000726 | Dementia | 0 | ITM2B CL E G H | 9445 | 117300 | Dementia, familial Danish | 117300 | C1861735 | OMIM | 1 | | 177 | 6174 | 603904 |
HP:0000726 | HP:0000726 | Dementia | 0 | JPH3 CL E G H | 57338 | 606438 | Huntington disease-like 2 | 606438 | C1847987 | OMIM | 1 | | 176 | 14203 | 605268 |
HP:0000726 | HP:0000726 | Dementia | 0 | MAPT CL E G H | 4137 | 100069 | | | | ORPHA | 1 | | 581 | 6893 | 157140 |
HP:0000726 | HP:0000726 | Dementia | 0 | MAPT CL E G H | 4137 | 260540 | Parkinson-dementia syndrome | 260540 | C1850077 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0000726 | HP:0000726 | Dementia | 0 | MBTPS2 CL E G H | 51360 | 2273 | Fara Chlupackova syndrome | | | ORPHA | 1 | | 309 | 15455 | 300294 |
HP:0000726 | HP:0000726 | Dementia | 0 | MECP2 CL E G H | 4204 | 312750 | Rett syndrome | 312750 | C0035372 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0000726 | HP:0000726 | Dementia | 0 | MMACHC CL E G H | 25974 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 524 | 24525 | 609831 |
HP:0000726 | HP:0000726 | Dementia | 0 | MT-ATP6 CL E G H | 4508 | 644 | | | | ORPHA | 1 | | | 7414 | 516060 |
HP:0000726 | HP:0000726 | Dementia | 0 | MT-ATP6 CL E G H | 4508 | 551500 | Neuropathy ataxia retinitis pigmentosa syndrome | 551500 | C1328349 | OMIM | 1 | | | 7414 | 516060 |
HP:0000726 | HP:0000726 | Dementia | 0 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0000726 | HP:0000726 | Dementia | 0 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0000726 | HP:0000726 | Dementia | 0 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0000726 | HP:0000726 | Dementia | 0 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0000726 | HP:0000726 | Dementia | 0 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0000726 | HP:0000726 | Dementia | 0 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0000726 | HP:0000726 | Dementia | 0 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0000726 | HP:0000726 | Dementia | 0 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0000726 | HP:0000726 | Dementia | 0 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0000726 | HP:0000726 | Dementia | 0 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0000726 | HP:0000726 | Dementia | 0 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0000726 | HP:0000726 | Dementia | 0 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0000726 | HP:0000726 | Dementia | 0 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0000726 | HP:0000726 | Dementia | 0 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0000726 | HP:0000726 | Dementia | 0 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0000726 | HP:0000726 | Dementia | 0 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0000726 | HP:0000726 | Dementia | 0 | NDP CL E G H | 4693 | 310600 | Atrophia bulborum hereditaria | 310600 | C0266526 | OMIM | 1 | | 299 | 7678 | 300658 |
HP:0000726 | HP:0000726 | Dementia | 0 | NHLRC1 CL E G H | 378884 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 351 | 21576 | 608072 |
HP:0000726 | HP:0000726 | Dementia | 0 | NOTCH3 CL E G H | 4854 | 136 | | | | ORPHA | 1 | | 1343 | 7883 | 600276 |
HP:0000726 | HP:0000726 | Dementia | 0 | NPC1 CL E G H | 4864 | 257220 | Niemann-Pick disease type C1 | 257220 | C3179455 | OMIM | 1 | | 2109 | 7897 | 607623 |
HP:0000726 | HP:0000726 | Dementia | 0 | NPC2 CL E G H | 10577 | 607625 | Niemann-Pick disease type C2 | 607625 | C1843366 | OMIM | 1 | | 232 | 14537 | 601015 |
HP:0000726 | HP:0000726 | Dementia | 0 | NR4A2 CL E G H | 4929 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 143 | 7981 | 601828 |
HP:0000726 | HP:0000726 | Dementia | 0 | PANK2 CL E G H | 80025 | 607236 | Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | 607236 | C1846582 | OMIM | 1 | | 499 | 15894 | 606157 |
HP:0000726 | HP:0000726 | Dementia | 0 | PANK2 CL E G H | 80025 | 234200 | Pigmentary pallidal degeneration | 234200 | C0018523 | OMIM | 1 | | 499 | 15894 | 606157 |
HP:0000726 | HP:0000726 | Dementia | 0 | PDGFB CL E G H | 5155 | 615483 | Idiopathic basal ganglia calcification 5 | 615483 | C3809645 | OMIM | 1 | | 151 | 8800 | 190040 |
HP:0000726 | HP:0000726 | Dementia | 0 | PINK1 CL E G H | 65018 | 605909 | Parkinson disease 6, autosomal recessive early-onset | 605909 | C1853833 | OMIM | 1 | | 384 | 14581 | 608309 |
HP:0000726 | HP:0000726 | Dementia | 0 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0000726 | HP:0000726 | Dementia | 0 | PPP2R2B CL E G H | 5521 | 604326 | Spinocerebellar ataxia 12 | 604326 | C1858501 | OMIM | 1 | | 71 | 9305 | 604325 |
HP:0000726 | HP:0000726 | Dementia | 0 | PRDM8 CL E G H | 56978 | 616640 | Epilepsy, progressive myoclonic, 10 | 616640 | C4225258 | OMIM | 1 | | 439 | 13993 | 616639 |
HP:0000726 | HP:0000726 | Dementia | 0 | PRDX1 CL E G H | 5052 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 64 | 9352 | 176763 |
HP:0000726 | HP:0000726 | Dementia | 0 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0000726 | Dementia | 0 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0000726 | Dementia | 0 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0000726 | Dementia | 0 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0000726 | Dementia | 0 | PRNP CL E G H | 5621 | 603218 | Huntington disease-like 1 | 603218 | C1864112 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0000726 | Dementia | 0 | PRNP CL E G H | 5621 | 123400 | Jakob-Creutzfeldt disease | 123400 | C0022336 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0000726 | Dementia | 0 | PRNP CL E G H | 5621 | 606688 | Spongiform encephalopathy with neuropsychiatric features | 606688 | C1847650 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0000726 | Dementia | 0 | PSAP CL E G H | 5660 | 309271 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0000726 | HP:0000726 | Dementia | 0 | PSEN1 CL E G H | 5663 | 100069 | | | | ORPHA | 1 | | 501 | 9508 | 104311 |
HP:0000726 | HP:0000726 | Dementia | 0 | PSEN1 CL E G H | 5663 | 607822 | Alzheimer disease, type 3 | 607822 | C1843013 | OMIM | 1 | | 501 | 9508 | 104311 |
HP:0000726 | HP:0000726 | Dementia | 0 | PSEN2 CL E G H | 5664 | 606889 | Alzheimer disease, type 4 | 606889 | C1847200 | OMIM | 1 | | 279 | 9509 | 600759 |
HP:0000726 | HP:0000726 | Dementia | 0 | RNF216 CL E G H | 54476 | 212840 | Gordon Holmes syndrome | 212840 | C1859305 | OMIM | 1 | | 297 | 21698 | 609948 |
HP:0000726 | HP:0000726 | Dementia | 0 | ROGDI CL E G H | 79641 | 1946 | | | | ORPHA | 1 | | 560 | 29478 | 614574 |
HP:0000726 | HP:0000726 | Dementia | 0 | ROGDI CL E G H | 79641 | 226750 | Kohlschutter's syndrome | 226750 | C0406740 | OMIM | 1 | | 560 | 29478 | 614574 |
HP:0000726 | HP:0000726 | Dementia | 0 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0000726 | HP:0000726 | Dementia | 0 | SLC13A5 CL E G H | 284111 | 1946 | | | | ORPHA | 1 | | 685 | 23089 | 608305 |
HP:0000726 | HP:0000726 | Dementia | 0 | SLC2A3 CL E G H | 6515 | 399 | 46,XX testicular disorder of sex development | | C2936420 | ORPHA | 1 | | 90 | 11007 | 138170 |
HP:0000726 | HP:0000726 | Dementia | 0 | SNCA CL E G H | 6622 | 127750 | Lewy body dementia | 127750 | C0752347 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0000726 | HP:0000726 | Dementia | 0 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0000726 | HP:0000726 | Dementia | 0 | SNCA CL E G H | 6622 | 605543 | Parkinson disease 4 | 605543 | C1854182 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0000726 | HP:0000726 | Dementia | 0 | SNCAIP CL E G H | 9627 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 160 | 11139 | 603779 |
HP:0000726 | HP:0000726 | Dementia | 0 | SNCB CL E G H | 6620 | 127750 | Lewy body dementia | 127750 | C0752347 | OMIM | 1 | | 72 | 11140 | 602569 |
HP:0000726 | HP:0000726 | Dementia | 0 | SPAST CL E G H | 6683 | 182601 | Spastic paraplegia 4, autosomal dominant | 182601 | C1866855 | OMIM | 1 | | 1215 | 11233 | 604277 |
HP:0000726 | HP:0000726 | Dementia | 0 | SPG21 CL E G H | 51324 | 101001 | | | | ORPHA | 1 | | 162 | 20373 | 608181 |
HP:0000726 | HP:0000726 | Dementia | 0 | SPG21 CL E G H | 51324 | 248900 | Mast syndrome | 248900 | C1855346 | OMIM | 1 | | 162 | 20373 | 608181 |
HP:0000726 | HP:0000726 | Dementia | 0 | TMEM106B CL E G H | 54664 | 100069 | | | | ORPHA | 1 | | 128 | 22407 | 613413 |
HP:0000726 | HP:0000726 | Dementia | 0 | TREM2 CL E G H | 54209 | 100069 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0000726 | HP:0000726 | Dementia | 0 | TREX1 CL E G H | 11277 | 192315 | Vasculopathy, retinal, with cerebral leukodystrophy | 192315 | C1860518 | OMIM | 1 | | 418 | 12269 | 606609 |
HP:0000726 | HP:0000726 | Dementia | 0 | TTR CL E G H | 7276 | 105210 | Amyloidogenic transthyretin amyloidosis | 105210 | C2751492 | OMIM | 1 | | 377 | 12405 | 176300 |
HP:0000726 | HP:0000726 | Dementia | 0 | TWNK CL E G H | 56652 | 609286 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609286 | C1836439 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0000726 | HP:0000726 | Dementia | 0 | VCP CL E G H | 7415 | 329478 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0000726 | HP:0000726 | Dementia | 0 | VCP CL E G H | 7415 | 167320 | Inclusion body myopathy with early-onset paget disease and frontotemporal dementia | 167320 | C1833662 | OMIM | 1 | | 607 | 12666 | 601023 |
HP:0000726 | HP:0000726 | Dementia | 0 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 1 | | 828 | 23594 | 608879 |
HP:0000726 | HP:0000726 | Dementia | 0 | WDR45 CL E G H | 11152 | 329284 | | | | ORPHA | 1 | | 587 | 28912 | 300526 |
HP:0000726 | HP:0000726 | Dementia | 0 | WDR45 CL E G H | 11152 | 300894 | Neurodegeneration with brain iron accumulation 5 | 300894 | C3550973 | OMIM | 1 | | 587 | 28912 | 300526 |
HP:0000726 | HP:0000726 | Dementia | 0 | WFS1 CL E G H | 7466 | 411590 | | | | ORPHA | 1 | | 1634 | 12762 | 606201 |
HP:0000726 | HP:0000726 | Dementia | 0 | XPR1 CL E G H | 9213 | 616413 | Basal ganglia calcification, idiopathic, 6 | 616413 | C4225335 | OMIM | 1 | | 234 | 12827 | 605237 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | AARS2 CL E G H | 57505 | 615889 | Leukoencephalopathy, progressive, with ovarian failure | 615889 | C4014588 | OMIM | 1 | | 543 | 21022 | 612035 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | AARS2 CL E G H | 57505 | 615889 | Leukoencephalopathy, progressive, with ovarian failure | 615889 | C4014588 | OMIM | 1 | | 543 | 21022 | 612035 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | AARS2 CL E G H | 57505 | 615889 | Leukoencephalopathy, progressive, with ovarian failure | 615889 | C4014588 | OMIM | 1 | | 543 | 21022 | 612035 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | AARS2 CL E G H | 57505 | 615889 | Leukoencephalopathy, progressive, with ovarian failure | 615889 | C4014588 | OMIM | 1 | | 543 | 21022 | 612035 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | ABCD1 CL E G H | 215 | 300100 | Adrenoleukodystrophy | 300100 | C0162309 | OMIM | 1 | | 1492 | 61 | 300371 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | ABCD1 CL E G H | 215 | 300100 | Adrenoleukodystrophy | 300100 | C0162309 | OMIM | 1 | | 1492 | 61 | 300371 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | ABCD1 CL E G H | 215 | 300100 | Adrenoleukodystrophy | 300100 | C0162309 | OMIM | 1 | | 1492 | 61 | 300371 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | ABCD1 CL E G H | 215 | 300100 | Adrenoleukodystrophy | 300100 | C0162309 | OMIM | 1 | | 1492 | 61 | 300371 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | ADA2 CL E G H | 51816 | 820 | | | | ORPHA | 1 | | 533 | 1839 | 607575 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | ADA2 CL E G H | 51816 | 820 | | | | ORPHA | 1 | | 533 | 1839 | 607575 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | ADA2 CL E G H | 51816 | 820 | | | | ORPHA | 1 | | 533 | 1839 | 607575 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | ADA2 CL E G H | 51816 | 820 | | | | ORPHA | 1 | | 533 | 1839 | 607575 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | AMN CL E G H | 81693 | 261100 | Megaloblastic anemia due to inborn errors of metabolism | 261100 | C1306856 | OMIM | 1 | | 298 | 14604 | 605799 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | AMN CL E G H | 81693 | 261100 | Megaloblastic anemia due to inborn errors of metabolism | 261100 | C1306856 | OMIM | 1 | | 298 | 14604 | 605799 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | AMN CL E G H | 81693 | 261100 | Megaloblastic anemia due to inborn errors of metabolism | 261100 | C1306856 | OMIM | 1 | | 298 | 14604 | 605799 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | AMN CL E G H | 81693 | 261100 | Megaloblastic anemia due to inborn errors of metabolism | 261100 | C1306856 | OMIM | 1 | | 298 | 14604 | 605799 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | APOE CL E G H | 348 | 104310 | Alzheimer disease 2 | 104310 | C1863051 | OMIM | 1 | | 166 | 613 | 107741 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | APOE CL E G H | 348 | 104310 | Alzheimer disease 2 | 104310 | C1863051 | OMIM | 1 | | 166 | 613 | 107741 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | APOE CL E G H | 348 | 104310 | Alzheimer disease 2 | 104310 | C1863051 | OMIM | 1 | | 166 | 613 | 107741 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | APOE CL E G H | 348 | 104310 | Alzheimer disease 2 | 104310 | C1863051 | OMIM | 1 | | 166 | 613 | 107741 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | APOE CL E G H | 348 | 606889 | Alzheimer disease, type 4 | 606889 | C1847200 | OMIM | 1 | | 166 | 613 | 107741 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | APOE CL E G H | 348 | 606889 | Alzheimer disease, type 4 | 606889 | C1847200 | OMIM | 1 | | 166 | 613 | 107741 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | APOE CL E G H | 348 | 606889 | Alzheimer disease, type 4 | 606889 | C1847200 | OMIM | 1 | | 166 | 613 | 107741 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | APOE CL E G H | 348 | 606889 | Alzheimer disease, type 4 | 606889 | C1847200 | OMIM | 1 | | 166 | 613 | 107741 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | APP CL E G H | 351 | 324708 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | APP CL E G H | 351 | 324713 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | APP CL E G H | 351 | 324703 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | APP CL E G H | 351 | 324708 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | APP CL E G H | 351 | 100006 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | APP CL E G H | 351 | 324713 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | APP CL E G H | 351 | 324703 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | APP CL E G H | 351 | 100006 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | APP CL E G H | 351 | 100006 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | APP CL E G H | 351 | 324708 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | APP CL E G H | 351 | 324713 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | APP CL E G H | 351 | 324713 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | APP CL E G H | 351 | 324703 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | APP CL E G H | 351 | 324703 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | APP CL E G H | 351 | 324708 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | APP CL E G H | 351 | 100006 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | APP CL E G H | 351 | 104300 | Alzheimer's disease | 104300 | C0002395 | OMIM | 1 | | 506 | 620 | 104760 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | APP CL E G H | 351 | 104300 | Alzheimer's disease | 104300 | C0002395 | OMIM | 1 | | 506 | 620 | 104760 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | APP CL E G H | 351 | 104300 | Alzheimer's disease | 104300 | C0002395 | OMIM | 1 | | 506 | 620 | 104760 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | APP CL E G H | 351 | 104300 | Alzheimer's disease | 104300 | C0002395 | OMIM | 1 | | 506 | 620 | 104760 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | APP CL E G H | 351 | 605714 | Cerebral amyloid angiopathy, APP-related | 605714 | C2751536 | OMIM | 1 | | 506 | 620 | 104760 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | APP CL E G H | 351 | 605714 | Cerebral amyloid angiopathy, APP-related | 605714 | C2751536 | OMIM | 1 | | 506 | 620 | 104760 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | APP CL E G H | 351 | 605714 | Cerebral amyloid angiopathy, APP-related | 605714 | C2751536 | OMIM | 1 | | 506 | 620 | 104760 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | APP CL E G H | 351 | 605714 | Cerebral amyloid angiopathy, APP-related | 605714 | C2751536 | OMIM | 1 | | 506 | 620 | 104760 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 331 | 15984 | 606350 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 331 | 15984 | 606350 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 331 | 15984 | 606350 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 331 | 15984 | 606350 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | ARSA CL E G H | 410 | 309271 | | | | ORPHA | 1 | | 1140 | 713 | 607574 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | ARSA CL E G H | 410 | 309271 | | | | ORPHA | 1 | | 1140 | 713 | 607574 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | ARSA CL E G H | 410 | 309271 | | | | ORPHA | 1 | | 1140 | 713 | 607574 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | ARSA CL E G H | 410 | 309271 | | | | ORPHA | 1 | | 1140 | 713 | 607574 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | ASAH1 CL E G H | 427 | 2590 | | | | ORPHA | 1 | | 913 | 735 | 613468 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | ASAH1 CL E G H | 427 | 2590 | | | | ORPHA | 1 | | 913 | 735 | 613468 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | ASAH1 CL E G H | 427 | 2590 | | | | ORPHA | 1 | | 913 | 735 | 613468 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | ASAH1 CL E G H | 427 | 2590 | | | | ORPHA | 1 | | 913 | 735 | 613468 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | ASAH1 CL E G H | 427 | 159950 | Jankovic Rivera syndrome | 159950 | C1834569 | OMIM | 1 | | 913 | 735 | 613468 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | ASAH1 CL E G H | 427 | 159950 | Jankovic Rivera syndrome | 159950 | C1834569 | OMIM | 1 | | 913 | 735 | 613468 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | ASAH1 CL E G H | 427 | 159950 | Jankovic Rivera syndrome | 159950 | C1834569 | OMIM | 1 | | 913 | 735 | 613468 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | ASAH1 CL E G H | 427 | 159950 | Jankovic Rivera syndrome | 159950 | C1834569 | OMIM | 1 | | 913 | 735 | 613468 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 213 | 3033 | 607462 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 213 | 3033 | 607462 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 213 | 3033 | 607462 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 213 | 3033 | 607462 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 974 | 30213 | 610513 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 974 | 30213 | 610513 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 974 | 30213 | 610513 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 974 | 30213 | 610513 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | ATP6V0A2 CL E G H | 23545 | 357074 | | | | ORPHA | 1 | | 610 | 18481 | 611716 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | ATP6V0A2 CL E G H | 23545 | 357074 | | | | ORPHA | 1 | | 610 | 18481 | 611716 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | ATP6V0A2 CL E G H | 23545 | 357074 | | | | ORPHA | 1 | | 610 | 18481 | 611716 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | ATP6V0A2 CL E G H | 23545 | 357074 | | | | ORPHA | 1 | | 610 | 18481 | 611716 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | ATP6V1A CL E G H | 523 | 357074 | | | | ORPHA | 1 | | 229 | 851 | 607027 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | ATP6V1A CL E G H | 523 | 357074 | | | | ORPHA | 1 | | 229 | 851 | 607027 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | ATP6V1A CL E G H | 523 | 357074 | | | | ORPHA | 1 | | 229 | 851 | 607027 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | ATP6V1A CL E G H | 523 | 357074 | | | | ORPHA | 1 | | 229 | 851 | 607027 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | ATP6V1E1 CL E G H | 529 | 357074 | | | | ORPHA | 1 | | 196 | 857 | 108746 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | ATP6V1E1 CL E G H | 529 | 357074 | | | | ORPHA | 1 | | 196 | 857 | 108746 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | ATP6V1E1 CL E G H | 529 | 357074 | | | | ORPHA | 1 | | 196 | 857 | 108746 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | ATP6V1E1 CL E G H | 529 | 357074 | | | | ORPHA | 1 | | 196 | 857 | 108746 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | ATP7B CL E G H | 540 | 277900 | Wilson disease | 277900 | C0019202 | OMIM | 1 | | 2303 | 870 | 606882 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | ATP7B CL E G H | 540 | 277900 | Wilson disease | 277900 | C0019202 | OMIM | 1 | | 2303 | 870 | 606882 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | ATP7B CL E G H | 540 | 277900 | Wilson disease | 277900 | C0019202 | OMIM | 1 | | 2303 | 870 | 606882 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | ATP7B CL E G H | 540 | 277900 | Wilson disease | 277900 | C0019202 | OMIM | 1 | | 2303 | 870 | 606882 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 116 | 10549 | 611150 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 116 | 10549 | 611150 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 116 | 10549 | 611150 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 116 | 10549 | 611150 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | ATXN2 CL E G H | 6311 | 98756 | | | | ORPHA | 1 | | 115 | 10555 | 601517 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | ATXN2 CL E G H | 6311 | 98756 | | | | ORPHA | 1 | | 115 | 10555 | 601517 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | ATXN2 CL E G H | 6311 | 98756 | | | | ORPHA | 1 | | 115 | 10555 | 601517 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | ATXN2 CL E G H | 6311 | 98756 | | | | ORPHA | 1 | | 115 | 10555 | 601517 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 115 | 10555 | 601517 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 115 | 10555 | 601517 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 115 | 10555 | 601517 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 115 | 10555 | 601517 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 65 | 7106 | 607047 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 65 | 7106 | 607047 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 65 | 7106 | 607047 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 65 | 7106 | 607047 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 307 | 25443 | 614297 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 307 | 25443 | 614297 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 307 | 25443 | 614297 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 307 | 25443 | 614297 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | C9orf72 CL E G H | 203228 | 100069 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | C9orf72 CL E G H | 203228 | 100069 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | C9orf72 CL E G H | 203228 | 100069 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | C9orf72 CL E G H | 203228 | 100069 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | CERS1 CL E G H | 10715 | 616230 | Epilepsy, progressive myoclonic 8 | 616230 | C4015619 | OMIM | 1 | | 411 | 14253 | 606919 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | CERS1 CL E G H | 10715 | 616230 | Epilepsy, progressive myoclonic 8 | 616230 | C4015619 | OMIM | 1 | | 411 | 14253 | 606919 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | CERS1 CL E G H | 10715 | 616230 | Epilepsy, progressive myoclonic 8 | 616230 | C4015619 | OMIM | 1 | | 411 | 14253 | 606919 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | CERS1 CL E G H | 10715 | 616230 | Epilepsy, progressive myoclonic 8 | 616230 | C4015619 | OMIM | 1 | | 411 | 14253 | 606919 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | CHMP2B CL E G H | 25978 | 100069 | | | | ORPHA | 1 | | 160 | 24537 | 609512 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | CHMP2B CL E G H | 25978 | 100069 | | | | ORPHA | 1 | | 160 | 24537 | 609512 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | CHMP2B CL E G H | 25978 | 100069 | | | | ORPHA | 1 | | 160 | 24537 | 609512 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | CHMP2B CL E G H | 25978 | 100069 | | | | ORPHA | 1 | | 160 | 24537 | 609512 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | CLN3 CL E G H | 1201 | 204200 | Juvenile neuronal ceroid lipofuscinosis | 204200 | C0751383 | OMIM | 1 | | 1015 | 2074 | 607042 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | CLN3 CL E G H | 1201 | 204200 | Juvenile neuronal ceroid lipofuscinosis | 204200 | C0751383 | OMIM | 1 | | 1015 | 2074 | 607042 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | CLN3 CL E G H | 1201 | 204200 | Juvenile neuronal ceroid lipofuscinosis | 204200 | C0751383 | OMIM | 1 | | 1015 | 2074 | 607042 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | CLN3 CL E G H | 1201 | 204200 | Juvenile neuronal ceroid lipofuscinosis | 204200 | C0751383 | OMIM | 1 | | 1015 | 2074 | 607042 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | CLN6 CL E G H | 54982 | 204300 | Adult neuronal ceroid lipofuscinosis | 204300 | C0022797 | OMIM | 1 | | 661 | 2077 | 606725 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | CLN6 CL E G H | 54982 | 204300 | Adult neuronal ceroid lipofuscinosis | 204300 | C0022797 | OMIM | 1 | | 661 | 2077 | 606725 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | CLN6 CL E G H | 54982 | 204300 | Adult neuronal ceroid lipofuscinosis | 204300 | C0022797 | OMIM | 1 | | 661 | 2077 | 606725 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | CLN6 CL E G H | 54982 | 204300 | Adult neuronal ceroid lipofuscinosis | 204300 | C0022797 | OMIM | 1 | | 661 | 2077 | 606725 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | CP CL E G H | 1356 | 48818 | | | | ORPHA | 1 | | 831 | 2295 | 117700 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | CP CL E G H | 1356 | 48818 | | | | ORPHA | 1 | | 831 | 2295 | 117700 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | CP CL E G H | 1356 | 48818 | | | | ORPHA | 1 | | 831 | 2295 | 117700 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | CP CL E G H | 1356 | 48818 | | | | ORPHA | 1 | | 831 | 2295 | 117700 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | CST3 CL E G H | 1471 | 105150 | Hereditary cerebral amyloid angiopathy, Icelandic type | 105150 | C1527338 | OMIM | 1 | | 54 | 2475 | 604312 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | CST3 CL E G H | 1471 | 105150 | Hereditary cerebral amyloid angiopathy, Icelandic type | 105150 | C1527338 | OMIM | 1 | | 54 | 2475 | 604312 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | CST3 CL E G H | 1471 | 105150 | Hereditary cerebral amyloid angiopathy, Icelandic type | 105150 | C1527338 | OMIM | 1 | | 54 | 2475 | 604312 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | CST3 CL E G H | 1471 | 105150 | Hereditary cerebral amyloid angiopathy, Icelandic type | 105150 | C1527338 | OMIM | 1 | | 54 | 2475 | 604312 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | CTSF CL E G H | 8722 | 615362 | Ceroid lipofuscinosis, neuronal, 13 | 615362 | C3715049 | OMIM | 1 | | 218 | 2531 | 603539 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | CTSF CL E G H | 8722 | 615362 | Ceroid lipofuscinosis, neuronal, 13 | 615362 | C3715049 | OMIM | 1 | | 218 | 2531 | 603539 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | CTSF CL E G H | 8722 | 615362 | Ceroid lipofuscinosis, neuronal, 13 | 615362 | C3715049 | OMIM | 1 | | 218 | 2531 | 603539 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | CTSF CL E G H | 8722 | 615362 | Ceroid lipofuscinosis, neuronal, 13 | 615362 | C3715049 | OMIM | 1 | | 218 | 2531 | 603539 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | CUBN CL E G H | 8029 | 261100 | Megaloblastic anemia due to inborn errors of metabolism | 261100 | C1306856 | OMIM | 1 | | 1581 | 2548 | 602997 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | CUBN CL E G H | 8029 | 261100 | Megaloblastic anemia due to inborn errors of metabolism | 261100 | C1306856 | OMIM | 1 | | 1581 | 2548 | 602997 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | CUBN CL E G H | 8029 | 261100 | Megaloblastic anemia due to inborn errors of metabolism | 261100 | C1306856 | OMIM | 1 | | 1581 | 2548 | 602997 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | CUBN CL E G H | 8029 | 261100 | Megaloblastic anemia due to inborn errors of metabolism | 261100 | C1306856 | OMIM | 1 | | 1581 | 2548 | 602997 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | CYP27A1 CL E G H | 1593 | 213700 | Cholestanol storage disease | 213700 | C0238052 | OMIM | 1 | | 940 | 2605 | 606530 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | CYP27A1 CL E G H | 1593 | 213700 | Cholestanol storage disease | 213700 | C0238052 | OMIM | 1 | | 940 | 2605 | 606530 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | CYP27A1 CL E G H | 1593 | 213700 | Cholestanol storage disease | 213700 | C0238052 | OMIM | 1 | | 940 | 2605 | 606530 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | CYP27A1 CL E G H | 1593 | 213700 | Cholestanol storage disease | 213700 | C0238052 | OMIM | 1 | | 940 | 2605 | 606530 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | DNAJC5 CL E G H | 80331 | 162350 | Ceroid lipofuscinosis neuronal 4B autosomal dominant | 162350 | C1834207 | OMIM | 1 | | 428 | 16235 | 611203 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | DNAJC5 CL E G H | 80331 | 162350 | Ceroid lipofuscinosis neuronal 4B autosomal dominant | 162350 | C1834207 | OMIM | 1 | | 428 | 16235 | 611203 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | DNAJC5 CL E G H | 80331 | 162350 | Ceroid lipofuscinosis neuronal 4B autosomal dominant | 162350 | C1834207 | OMIM | 1 | | 428 | 16235 | 611203 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | DNAJC5 CL E G H | 80331 | 162350 | Ceroid lipofuscinosis neuronal 4B autosomal dominant | 162350 | C1834207 | OMIM | 1 | | 428 | 16235 | 611203 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | DNMT1 CL E G H | 1786 | 604121 | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant | 604121 | C1858804 | OMIM | 1 | | 1196 | 2976 | 126375 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | DNMT1 CL E G H | 1786 | 604121 | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant | 604121 | C1858804 | OMIM | 1 | | 1196 | 2976 | 126375 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | DNMT1 CL E G H | 1786 | 604121 | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant | 604121 | C1858804 | OMIM | 1 | | 1196 | 2976 | 126375 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | DNMT1 CL E G H | 1786 | 604121 | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant | 604121 | C1858804 | OMIM | 1 | | 1196 | 2976 | 126375 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | DNMT1 CL E G H | 1786 | 614116 | Hereditary sensory neuropathy type IE | 614116 | C3279885 | OMIM | 1 | | 1196 | 2976 | 126375 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | DNMT1 CL E G H | 1786 | 614116 | Hereditary sensory neuropathy type IE | 614116 | C3279885 | OMIM | 1 | | 1196 | 2976 | 126375 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | DNMT1 CL E G H | 1786 | 614116 | Hereditary sensory neuropathy type IE | 614116 | C3279885 | OMIM | 1 | | 1196 | 2976 | 126375 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | DNMT1 CL E G H | 1786 | 614116 | Hereditary sensory neuropathy type IE | 614116 | C3279885 | OMIM | 1 | | 1196 | 2976 | 126375 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | EPM2A CL E G H | 7957 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 416 | 3413 | 607566 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | EPM2A CL E G H | 7957 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 416 | 3413 | 607566 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | EPM2A CL E G H | 7957 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 416 | 3413 | 607566 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | EPM2A CL E G H | 7957 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 416 | 3413 | 607566 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | ERCC8 CL E G H | 1161 | 216400 | Cockayne syndrome type A | 216400 | C0751039 | OMIM | 1 | | 484 | 3439 | 609412 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | ERCC8 CL E G H | 1161 | 216400 | Cockayne syndrome type A | 216400 | C0751039 | OMIM | 1 | | 484 | 3439 | 609412 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | ERCC8 CL E G H | 1161 | 216400 | Cockayne syndrome type A | 216400 | C0751039 | OMIM | 1 | | 484 | 3439 | 609412 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | ERCC8 CL E G H | 1161 | 216400 | Cockayne syndrome type A | 216400 | C0751039 | OMIM | 1 | | 484 | 3439 | 609412 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 1 | | 371 | 3775 | 309550 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 1 | | 371 | 3775 | 309550 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 1 | | 371 | 3775 | 309550 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 1 | | 371 | 3775 | 309550 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | FMR1 CL E G H | 2332 | 300623 | Fragile X tremor/ataxia syndrome | 300623 | C1839780 | OMIM | 1 | | 371 | 3775 | 309550 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | FMR1 CL E G H | 2332 | 300623 | Fragile X tremor/ataxia syndrome | 300623 | C1839780 | OMIM | 1 | | 371 | 3775 | 309550 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | FMR1 CL E G H | 2332 | 300623 | Fragile X tremor/ataxia syndrome | 300623 | C1839780 | OMIM | 1 | | 371 | 3775 | 309550 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | FMR1 CL E G H | 2332 | 300623 | Fragile X tremor/ataxia syndrome | 300623 | C1839780 | OMIM | 1 | | 371 | 3775 | 309550 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | GBA CL E G H | 2629 | 77261 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | GBA CL E G H | 2629 | 77261 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | GBA CL E G H | 2629 | 77261 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | GBA CL E G H | 2629 | 77261 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | GBA CL E G H | 2629 | 231000 | Subacute neuronopathic Gaucher's disease | 231000 | C0268251 | OMIM | 1 | | | 4177 | 606463 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | GBA CL E G H | 2629 | 231000 | Subacute neuronopathic Gaucher's disease | 231000 | C0268251 | OMIM | 1 | | | 4177 | 606463 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | GBA CL E G H | 2629 | 231000 | Subacute neuronopathic Gaucher's disease | 231000 | C0268251 | OMIM | 1 | | | 4177 | 606463 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | GBA CL E G H | 2629 | 231000 | Subacute neuronopathic Gaucher's disease | 231000 | C0268251 | OMIM | 1 | | | 4177 | 606463 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | GM2A CL E G H | 2760 | 272750 | Tay-Sachs disease, variant AB | 272750 | C0268275 | OMIM | 1 | | 212 | 4367 | 613109 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | GM2A CL E G H | 2760 | 272750 | Tay-Sachs disease, variant AB | 272750 | C0268275 | OMIM | 1 | | 212 | 4367 | 613109 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | GM2A CL E G H | 2760 | 272750 | Tay-Sachs disease, variant AB | 272750 | C0268275 | OMIM | 1 | | 212 | 4367 | 613109 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | GM2A CL E G H | 2760 | 272750 | Tay-Sachs disease, variant AB | 272750 | C0268275 | OMIM | 1 | | 212 | 4367 | 613109 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | GRN CL E G H | 2896 | 100069 | | | | ORPHA | 1 | | 594 | 4601 | 138945 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | GRN CL E G H | 2896 | 100069 | | | | ORPHA | 1 | | 594 | 4601 | 138945 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | GRN CL E G H | 2896 | 100069 | | | | ORPHA | 1 | | 594 | 4601 | 138945 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | GRN CL E G H | 2896 | 100069 | | | | ORPHA | 1 | | 594 | 4601 | 138945 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | HEXA CL E G H | 3073 | 272800 | Tay-Sachs disease | 272800 | C0039373 | OMIM | 1 | | 1002 | 4878 | 606869 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | HEXA CL E G H | 3073 | 272800 | Tay-Sachs disease | 272800 | C0039373 | OMIM | 1 | | 1002 | 4878 | 606869 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | HEXA CL E G H | 3073 | 272800 | Tay-Sachs disease | 272800 | C0039373 | OMIM | 1 | | 1002 | 4878 | 606869 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | HEXA CL E G H | 3073 | 272800 | Tay-Sachs disease | 272800 | C0039373 | OMIM | 1 | | 1002 | 4878 | 606869 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | HTRA1 CL E G H | 5654 | 616779 | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | 616779 | C4225211 | OMIM | 1 | | 285 | 9476 | 602194 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | HTRA1 CL E G H | 5654 | 616779 | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | 616779 | C4225211 | OMIM | 1 | | 285 | 9476 | 602194 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | HTRA1 CL E G H | 5654 | 616779 | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | 616779 | C4225211 | OMIM | 1 | | 285 | 9476 | 602194 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | HTRA1 CL E G H | 5654 | 616779 | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | 616779 | C4225211 | OMIM | 1 | | 285 | 9476 | 602194 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | HTRA1 CL E G H | 5654 | 600142 | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy | 600142 | C1838577 | OMIM | 1 | | 285 | 9476 | 602194 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | HTRA1 CL E G H | 5654 | 600142 | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy | 600142 | C1838577 | OMIM | 1 | | 285 | 9476 | 602194 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | HTRA1 CL E G H | 5654 | 600142 | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy | 600142 | C1838577 | OMIM | 1 | | 285 | 9476 | 602194 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | HTRA1 CL E G H | 5654 | 600142 | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy | 600142 | C1838577 | OMIM | 1 | | 285 | 9476 | 602194 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | HTT CL E G H | 3064 | 248111 | | | | ORPHA | 1 | | 760 | 4851 | 613004 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | HTT CL E G H | 3064 | 248111 | | | | ORPHA | 1 | | 760 | 4851 | 613004 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | HTT CL E G H | 3064 | 248111 | | | | ORPHA | 1 | | 760 | 4851 | 613004 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | HTT CL E G H | 3064 | 248111 | | | | ORPHA | 1 | | 760 | 4851 | 613004 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | HTT CL E G H | 3064 | 399 | 46,XX testicular disorder of sex development | | C2936420 | ORPHA | 1 | | 760 | 4851 | 613004 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | HTT CL E G H | 3064 | 399 | 46,XX testicular disorder of sex development | | C2936420 | ORPHA | 1 | | 760 | 4851 | 613004 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | HTT CL E G H | 3064 | 399 | 46,XX testicular disorder of sex development | | C2936420 | ORPHA | 1 | | 760 | 4851 | 613004 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | HTT CL E G H | 3064 | 399 | 46,XX testicular disorder of sex development | | C2936420 | ORPHA | 1 | | 760 | 4851 | 613004 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 760 | 4851 | 613004 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 760 | 4851 | 613004 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 760 | 4851 | 613004 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 760 | 4851 | 613004 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | IRF6 CL E G H | 3664 | 119500 | Popliteal pterygium syndrome | 119500 | C0265259 | OMIM | 1 | | 317 | 6121 | 607199 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | IRF6 CL E G H | 3664 | 119500 | Popliteal pterygium syndrome | 119500 | C0265259 | OMIM | 1 | | 317 | 6121 | 607199 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | IRF6 CL E G H | 3664 | 119500 | Popliteal pterygium syndrome | 119500 | C0265259 | OMIM | 1 | | 317 | 6121 | 607199 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | IRF6 CL E G H | 3664 | 119500 | Popliteal pterygium syndrome | 119500 | C0265259 | OMIM | 1 | | 317 | 6121 | 607199 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | ITM2B CL E G H | 9445 | 176500 | Dementia familial British | 176500 | C1867773 | OMIM | 1 | | 177 | 6174 | 603904 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | ITM2B CL E G H | 9445 | 176500 | Dementia familial British | 176500 | C1867773 | OMIM | 1 | | 177 | 6174 | 603904 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | ITM2B CL E G H | 9445 | 176500 | Dementia familial British | 176500 | C1867773 | OMIM | 1 | | 177 | 6174 | 603904 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | ITM2B CL E G H | 9445 | 176500 | Dementia familial British | 176500 | C1867773 | OMIM | 1 | | 177 | 6174 | 603904 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | ITM2B CL E G H | 9445 | 117300 | Dementia, familial Danish | 117300 | C1861735 | OMIM | 1 | | 177 | 6174 | 603904 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | ITM2B CL E G H | 9445 | 117300 | Dementia, familial Danish | 117300 | C1861735 | OMIM | 1 | | 177 | 6174 | 603904 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | ITM2B CL E G H | 9445 | 117300 | Dementia, familial Danish | 117300 | C1861735 | OMIM | 1 | | 177 | 6174 | 603904 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | ITM2B CL E G H | 9445 | 117300 | Dementia, familial Danish | 117300 | C1861735 | OMIM | 1 | | 177 | 6174 | 603904 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | JPH3 CL E G H | 57338 | 606438 | Huntington disease-like 2 | 606438 | C1847987 | OMIM | 1 | | 176 | 14203 | 605268 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | JPH3 CL E G H | 57338 | 606438 | Huntington disease-like 2 | 606438 | C1847987 | OMIM | 1 | | 176 | 14203 | 605268 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | JPH3 CL E G H | 57338 | 606438 | Huntington disease-like 2 | 606438 | C1847987 | OMIM | 1 | | 176 | 14203 | 605268 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | JPH3 CL E G H | 57338 | 606438 | Huntington disease-like 2 | 606438 | C1847987 | OMIM | 1 | | 176 | 14203 | 605268 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | MAPT CL E G H | 4137 | 100069 | | | | ORPHA | 1 | | 581 | 6893 | 157140 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | MAPT CL E G H | 4137 | 100069 | | | | ORPHA | 1 | | 581 | 6893 | 157140 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | MAPT CL E G H | 4137 | 100069 | | | | ORPHA | 1 | | 581 | 6893 | 157140 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | MAPT CL E G H | 4137 | 100069 | | | | ORPHA | 1 | | 581 | 6893 | 157140 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | MAPT CL E G H | 4137 | 260540 | Parkinson-dementia syndrome | 260540 | C1850077 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | MAPT CL E G H | 4137 | 260540 | Parkinson-dementia syndrome | 260540 | C1850077 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | MAPT CL E G H | 4137 | 260540 | Parkinson-dementia syndrome | 260540 | C1850077 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | MAPT CL E G H | 4137 | 260540 | Parkinson-dementia syndrome | 260540 | C1850077 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | MBTPS2 CL E G H | 51360 | 2273 | Fara Chlupackova syndrome | | | ORPHA | 1 | | 309 | 15455 | 300294 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | MBTPS2 CL E G H | 51360 | 2273 | Fara Chlupackova syndrome | | | ORPHA | 1 | | 309 | 15455 | 300294 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | MBTPS2 CL E G H | 51360 | 2273 | Fara Chlupackova syndrome | | | ORPHA | 1 | | 309 | 15455 | 300294 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | MBTPS2 CL E G H | 51360 | 2273 | Fara Chlupackova syndrome | | | ORPHA | 1 | | 309 | 15455 | 300294 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | MECP2 CL E G H | 4204 | 312750 | Rett syndrome | 312750 | C0035372 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | MECP2 CL E G H | 4204 | 312750 | Rett syndrome | 312750 | C0035372 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | MECP2 CL E G H | 4204 | 312750 | Rett syndrome | 312750 | C0035372 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | MECP2 CL E G H | 4204 | 312750 | Rett syndrome | 312750 | C0035372 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | MMACHC CL E G H | 25974 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 524 | 24525 | 609831 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | MMACHC CL E G H | 25974 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 524 | 24525 | 609831 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | MMACHC CL E G H | 25974 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 524 | 24525 | 609831 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | MMACHC CL E G H | 25974 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 524 | 24525 | 609831 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | MT-ATP6 CL E G H | 4508 | 644 | | | | ORPHA | 1 | | | 7414 | 516060 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | MT-ATP6 CL E G H | 4508 | 644 | | | | ORPHA | 1 | | | 7414 | 516060 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | MT-ATP6 CL E G H | 4508 | 644 | | | | ORPHA | 1 | | | 7414 | 516060 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | MT-ATP6 CL E G H | 4508 | 644 | | | | ORPHA | 1 | | | 7414 | 516060 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | MT-ATP6 CL E G H | 4508 | 551500 | Neuropathy ataxia retinitis pigmentosa syndrome | 551500 | C1328349 | OMIM | 1 | | | 7414 | 516060 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | MT-ATP6 CL E G H | 4508 | 551500 | Neuropathy ataxia retinitis pigmentosa syndrome | 551500 | C1328349 | OMIM | 1 | | | 7414 | 516060 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | MT-ATP6 CL E G H | 4508 | 551500 | Neuropathy ataxia retinitis pigmentosa syndrome | 551500 | C1328349 | OMIM | 1 | | | 7414 | 516060 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | MT-ATP6 CL E G H | 4508 | 551500 | Neuropathy ataxia retinitis pigmentosa syndrome | 551500 | C1328349 | OMIM | 1 | | | 7414 | 516060 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | NDP CL E G H | 4693 | 310600 | Atrophia bulborum hereditaria | 310600 | C0266526 | OMIM | 1 | | 299 | 7678 | 300658 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | NDP CL E G H | 4693 | 310600 | Atrophia bulborum hereditaria | 310600 | C0266526 | OMIM | 1 | | 299 | 7678 | 300658 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | NDP CL E G H | 4693 | 310600 | Atrophia bulborum hereditaria | 310600 | C0266526 | OMIM | 1 | | 299 | 7678 | 300658 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | NDP CL E G H | 4693 | 310600 | Atrophia bulborum hereditaria | 310600 | C0266526 | OMIM | 1 | | 299 | 7678 | 300658 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | NHLRC1 CL E G H | 378884 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 351 | 21576 | 608072 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | NHLRC1 CL E G H | 378884 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 351 | 21576 | 608072 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | NHLRC1 CL E G H | 378884 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 351 | 21576 | 608072 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | NHLRC1 CL E G H | 378884 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 351 | 21576 | 608072 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | NOTCH3 CL E G H | 4854 | 136 | | | | ORPHA | 1 | | 1343 | 7883 | 600276 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | NOTCH3 CL E G H | 4854 | 136 | | | | ORPHA | 1 | | 1343 | 7883 | 600276 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | NOTCH3 CL E G H | 4854 | 136 | | | | ORPHA | 1 | | 1343 | 7883 | 600276 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | NOTCH3 CL E G H | 4854 | 136 | | | | ORPHA | 1 | | 1343 | 7883 | 600276 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | NPC1 CL E G H | 4864 | 257220 | Niemann-Pick disease type C1 | 257220 | C3179455 | OMIM | 1 | | 2109 | 7897 | 607623 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | NPC1 CL E G H | 4864 | 257220 | Niemann-Pick disease type C1 | 257220 | C3179455 | OMIM | 1 | | 2109 | 7897 | 607623 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | NPC1 CL E G H | 4864 | 257220 | Niemann-Pick disease type C1 | 257220 | C3179455 | OMIM | 1 | | 2109 | 7897 | 607623 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | NPC1 CL E G H | 4864 | 257220 | Niemann-Pick disease type C1 | 257220 | C3179455 | OMIM | 1 | | 2109 | 7897 | 607623 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | NPC2 CL E G H | 10577 | 607625 | Niemann-Pick disease type C2 | 607625 | C1843366 | OMIM | 1 | | 232 | 14537 | 601015 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | NPC2 CL E G H | 10577 | 607625 | Niemann-Pick disease type C2 | 607625 | C1843366 | OMIM | 1 | | 232 | 14537 | 601015 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | NPC2 CL E G H | 10577 | 607625 | Niemann-Pick disease type C2 | 607625 | C1843366 | OMIM | 1 | | 232 | 14537 | 601015 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | NPC2 CL E G H | 10577 | 607625 | Niemann-Pick disease type C2 | 607625 | C1843366 | OMIM | 1 | | 232 | 14537 | 601015 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | NR4A2 CL E G H | 4929 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 143 | 7981 | 601828 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | NR4A2 CL E G H | 4929 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 143 | 7981 | 601828 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | NR4A2 CL E G H | 4929 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 143 | 7981 | 601828 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | NR4A2 CL E G H | 4929 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 143 | 7981 | 601828 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | PANK2 CL E G H | 80025 | 607236 | Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | 607236 | C1846582 | OMIM | 1 | | 499 | 15894 | 606157 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | PANK2 CL E G H | 80025 | 607236 | Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | 607236 | C1846582 | OMIM | 1 | | 499 | 15894 | 606157 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | PANK2 CL E G H | 80025 | 607236 | Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | 607236 | C1846582 | OMIM | 1 | | 499 | 15894 | 606157 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | PANK2 CL E G H | 80025 | 607236 | Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | 607236 | C1846582 | OMIM | 1 | | 499 | 15894 | 606157 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | PANK2 CL E G H | 80025 | 234200 | Pigmentary pallidal degeneration | 234200 | C0018523 | OMIM | 1 | | 499 | 15894 | 606157 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | PANK2 CL E G H | 80025 | 234200 | Pigmentary pallidal degeneration | 234200 | C0018523 | OMIM | 1 | | 499 | 15894 | 606157 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | PANK2 CL E G H | 80025 | 234200 | Pigmentary pallidal degeneration | 234200 | C0018523 | OMIM | 1 | | 499 | 15894 | 606157 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | PANK2 CL E G H | 80025 | 234200 | Pigmentary pallidal degeneration | 234200 | C0018523 | OMIM | 1 | | 499 | 15894 | 606157 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | PDGFB CL E G H | 5155 | 615483 | Idiopathic basal ganglia calcification 5 | 615483 | C3809645 | OMIM | 1 | | 151 | 8800 | 190040 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | PDGFB CL E G H | 5155 | 615483 | Idiopathic basal ganglia calcification 5 | 615483 | C3809645 | OMIM | 1 | | 151 | 8800 | 190040 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | PDGFB CL E G H | 5155 | 615483 | Idiopathic basal ganglia calcification 5 | 615483 | C3809645 | OMIM | 1 | | 151 | 8800 | 190040 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | PDGFB CL E G H | 5155 | 615483 | Idiopathic basal ganglia calcification 5 | 615483 | C3809645 | OMIM | 1 | | 151 | 8800 | 190040 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | PINK1 CL E G H | 65018 | 605909 | Parkinson disease 6, autosomal recessive early-onset | 605909 | C1853833 | OMIM | 1 | | 384 | 14581 | 608309 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | PINK1 CL E G H | 65018 | 605909 | Parkinson disease 6, autosomal recessive early-onset | 605909 | C1853833 | OMIM | 1 | | 384 | 14581 | 608309 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | PINK1 CL E G H | 65018 | 605909 | Parkinson disease 6, autosomal recessive early-onset | 605909 | C1853833 | OMIM | 1 | | 384 | 14581 | 608309 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | PINK1 CL E G H | 65018 | 605909 | Parkinson disease 6, autosomal recessive early-onset | 605909 | C1853833 | OMIM | 1 | | 384 | 14581 | 608309 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | PPP2R2B CL E G H | 5521 | 604326 | Spinocerebellar ataxia 12 | 604326 | C1858501 | OMIM | 1 | | 71 | 9305 | 604325 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | PPP2R2B CL E G H | 5521 | 604326 | Spinocerebellar ataxia 12 | 604326 | C1858501 | OMIM | 1 | | 71 | 9305 | 604325 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | PPP2R2B CL E G H | 5521 | 604326 | Spinocerebellar ataxia 12 | 604326 | C1858501 | OMIM | 1 | | 71 | 9305 | 604325 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | PPP2R2B CL E G H | 5521 | 604326 | Spinocerebellar ataxia 12 | 604326 | C1858501 | OMIM | 1 | | 71 | 9305 | 604325 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | PRDM8 CL E G H | 56978 | 616640 | Epilepsy, progressive myoclonic, 10 | 616640 | C4225258 | OMIM | 1 | | 439 | 13993 | 616639 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | PRDM8 CL E G H | 56978 | 616640 | Epilepsy, progressive myoclonic, 10 | 616640 | C4225258 | OMIM | 1 | | 439 | 13993 | 616639 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | PRDM8 CL E G H | 56978 | 616640 | Epilepsy, progressive myoclonic, 10 | 616640 | C4225258 | OMIM | 1 | | 439 | 13993 | 616639 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | PRDM8 CL E G H | 56978 | 616640 | Epilepsy, progressive myoclonic, 10 | 616640 | C4225258 | OMIM | 1 | | 439 | 13993 | 616639 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | PRDX1 CL E G H | 5052 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 64 | 9352 | 176763 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | PRDX1 CL E G H | 5052 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 64 | 9352 | 176763 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | PRDX1 CL E G H | 5052 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 64 | 9352 | 176763 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | PRDX1 CL E G H | 5052 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 64 | 9352 | 176763 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | PRNP CL E G H | 5621 | 603218 | Huntington disease-like 1 | 603218 | C1864112 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | PRNP CL E G H | 5621 | 603218 | Huntington disease-like 1 | 603218 | C1864112 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | PRNP CL E G H | 5621 | 603218 | Huntington disease-like 1 | 603218 | C1864112 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | PRNP CL E G H | 5621 | 603218 | Huntington disease-like 1 | 603218 | C1864112 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | PRNP CL E G H | 5621 | 123400 | Jakob-Creutzfeldt disease | 123400 | C0022336 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | PRNP CL E G H | 5621 | 123400 | Jakob-Creutzfeldt disease | 123400 | C0022336 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | PRNP CL E G H | 5621 | 123400 | Jakob-Creutzfeldt disease | 123400 | C0022336 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | PRNP CL E G H | 5621 | 123400 | Jakob-Creutzfeldt disease | 123400 | C0022336 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | PRNP CL E G H | 5621 | 606688 | Spongiform encephalopathy with neuropsychiatric features | 606688 | C1847650 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | PRNP CL E G H | 5621 | 606688 | Spongiform encephalopathy with neuropsychiatric features | 606688 | C1847650 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | PRNP CL E G H | 5621 | 606688 | Spongiform encephalopathy with neuropsychiatric features | 606688 | C1847650 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | PRNP CL E G H | 5621 | 606688 | Spongiform encephalopathy with neuropsychiatric features | 606688 | C1847650 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | PSAP CL E G H | 5660 | 309271 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | PSAP CL E G H | 5660 | 309271 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | PSAP CL E G H | 5660 | 309271 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | PSAP CL E G H | 5660 | 309271 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | PSEN1 CL E G H | 5663 | 100069 | | | | ORPHA | 1 | | 501 | 9508 | 104311 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | PSEN1 CL E G H | 5663 | 100069 | | | | ORPHA | 1 | | 501 | 9508 | 104311 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | PSEN1 CL E G H | 5663 | 100069 | | | | ORPHA | 1 | | 501 | 9508 | 104311 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | PSEN1 CL E G H | 5663 | 100069 | | | | ORPHA | 1 | | 501 | 9508 | 104311 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | PSEN1 CL E G H | 5663 | 607822 | Alzheimer disease, type 3 | 607822 | C1843013 | OMIM | 1 | | 501 | 9508 | 104311 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | PSEN1 CL E G H | 5663 | 607822 | Alzheimer disease, type 3 | 607822 | C1843013 | OMIM | 1 | | 501 | 9508 | 104311 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | PSEN1 CL E G H | 5663 | 607822 | Alzheimer disease, type 3 | 607822 | C1843013 | OMIM | 1 | | 501 | 9508 | 104311 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | PSEN1 CL E G H | 5663 | 607822 | Alzheimer disease, type 3 | 607822 | C1843013 | OMIM | 1 | | 501 | 9508 | 104311 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | PSEN2 CL E G H | 5664 | 606889 | Alzheimer disease, type 4 | 606889 | C1847200 | OMIM | 1 | | 279 | 9509 | 600759 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | PSEN2 CL E G H | 5664 | 606889 | Alzheimer disease, type 4 | 606889 | C1847200 | OMIM | 1 | | 279 | 9509 | 600759 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | PSEN2 CL E G H | 5664 | 606889 | Alzheimer disease, type 4 | 606889 | C1847200 | OMIM | 1 | | 279 | 9509 | 600759 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | PSEN2 CL E G H | 5664 | 606889 | Alzheimer disease, type 4 | 606889 | C1847200 | OMIM | 1 | | 279 | 9509 | 600759 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | RNF216 CL E G H | 54476 | 212840 | Gordon Holmes syndrome | 212840 | C1859305 | OMIM | 1 | | 297 | 21698 | 609948 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | RNF216 CL E G H | 54476 | 212840 | Gordon Holmes syndrome | 212840 | C1859305 | OMIM | 1 | | 297 | 21698 | 609948 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | RNF216 CL E G H | 54476 | 212840 | Gordon Holmes syndrome | 212840 | C1859305 | OMIM | 1 | | 297 | 21698 | 609948 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | RNF216 CL E G H | 54476 | 212840 | Gordon Holmes syndrome | 212840 | C1859305 | OMIM | 1 | | 297 | 21698 | 609948 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | ROGDI CL E G H | 79641 | 1946 | | | | ORPHA | 1 | | 560 | 29478 | 614574 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | ROGDI CL E G H | 79641 | 1946 | | | | ORPHA | 1 | | 560 | 29478 | 614574 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | ROGDI CL E G H | 79641 | 1946 | | | | ORPHA | 1 | | 560 | 29478 | 614574 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | ROGDI CL E G H | 79641 | 1946 | | | | ORPHA | 1 | | 560 | 29478 | 614574 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | ROGDI CL E G H | 79641 | 226750 | Kohlschutter's syndrome | 226750 | C0406740 | OMIM | 1 | | 560 | 29478 | 614574 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | ROGDI CL E G H | 79641 | 226750 | Kohlschutter's syndrome | 226750 | C0406740 | OMIM | 1 | | 560 | 29478 | 614574 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | ROGDI CL E G H | 79641 | 226750 | Kohlschutter's syndrome | 226750 | C0406740 | OMIM | 1 | | 560 | 29478 | 614574 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | ROGDI CL E G H | 79641 | 226750 | Kohlschutter's syndrome | 226750 | C0406740 | OMIM | 1 | | 560 | 29478 | 614574 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | SLC13A5 CL E G H | 284111 | 1946 | | | | ORPHA | 1 | | 685 | 23089 | 608305 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | SLC13A5 CL E G H | 284111 | 1946 | | | | ORPHA | 1 | | 685 | 23089 | 608305 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | SLC13A5 CL E G H | 284111 | 1946 | | | | ORPHA | 1 | | 685 | 23089 | 608305 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | SLC13A5 CL E G H | 284111 | 1946 | | | | ORPHA | 1 | | 685 | 23089 | 608305 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | SLC2A3 CL E G H | 6515 | 399 | 46,XX testicular disorder of sex development | | C2936420 | ORPHA | 1 | | 90 | 11007 | 138170 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | SLC2A3 CL E G H | 6515 | 399 | 46,XX testicular disorder of sex development | | C2936420 | ORPHA | 1 | | 90 | 11007 | 138170 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | SLC2A3 CL E G H | 6515 | 399 | 46,XX testicular disorder of sex development | | C2936420 | ORPHA | 1 | | 90 | 11007 | 138170 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | SLC2A3 CL E G H | 6515 | 399 | 46,XX testicular disorder of sex development | | C2936420 | ORPHA | 1 | | 90 | 11007 | 138170 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | SNCA CL E G H | 6622 | 127750 | Lewy body dementia | 127750 | C0752347 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | SNCA CL E G H | 6622 | 127750 | Lewy body dementia | 127750 | C0752347 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | SNCA CL E G H | 6622 | 127750 | Lewy body dementia | 127750 | C0752347 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | SNCA CL E G H | 6622 | 127750 | Lewy body dementia | 127750 | C0752347 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | SNCA CL E G H | 6622 | 605543 | Parkinson disease 4 | 605543 | C1854182 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | SNCA CL E G H | 6622 | 605543 | Parkinson disease 4 | 605543 | C1854182 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | SNCA CL E G H | 6622 | 605543 | Parkinson disease 4 | 605543 | C1854182 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | SNCA CL E G H | 6622 | 605543 | Parkinson disease 4 | 605543 | C1854182 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | SNCAIP CL E G H | 9627 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 160 | 11139 | 603779 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | SNCAIP CL E G H | 9627 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 160 | 11139 | 603779 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | SNCAIP CL E G H | 9627 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 160 | 11139 | 603779 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | SNCAIP CL E G H | 9627 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 160 | 11139 | 603779 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | SNCB CL E G H | 6620 | 127750 | Lewy body dementia | 127750 | C0752347 | OMIM | 1 | | 72 | 11140 | 602569 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | SNCB CL E G H | 6620 | 127750 | Lewy body dementia | 127750 | C0752347 | OMIM | 1 | | 72 | 11140 | 602569 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | SNCB CL E G H | 6620 | 127750 | Lewy body dementia | 127750 | C0752347 | OMIM | 1 | | 72 | 11140 | 602569 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | SNCB CL E G H | 6620 | 127750 | Lewy body dementia | 127750 | C0752347 | OMIM | 1 | | 72 | 11140 | 602569 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | SPAST CL E G H | 6683 | 182601 | Spastic paraplegia 4, autosomal dominant | 182601 | C1866855 | OMIM | 1 | | 1215 | 11233 | 604277 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | SPAST CL E G H | 6683 | 182601 | Spastic paraplegia 4, autosomal dominant | 182601 | C1866855 | OMIM | 1 | | 1215 | 11233 | 604277 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | SPAST CL E G H | 6683 | 182601 | Spastic paraplegia 4, autosomal dominant | 182601 | C1866855 | OMIM | 1 | | 1215 | 11233 | 604277 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | SPAST CL E G H | 6683 | 182601 | Spastic paraplegia 4, autosomal dominant | 182601 | C1866855 | OMIM | 1 | | 1215 | 11233 | 604277 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | SPG21 CL E G H | 51324 | 101001 | | | | ORPHA | 1 | | 162 | 20373 | 608181 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | SPG21 CL E G H | 51324 | 101001 | | | | ORPHA | 1 | | 162 | 20373 | 608181 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | SPG21 CL E G H | 51324 | 101001 | | | | ORPHA | 1 | | 162 | 20373 | 608181 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | SPG21 CL E G H | 51324 | 101001 | | | | ORPHA | 1 | | 162 | 20373 | 608181 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | SPG21 CL E G H | 51324 | 248900 | Mast syndrome | 248900 | C1855346 | OMIM | 1 | | 162 | 20373 | 608181 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | SPG21 CL E G H | 51324 | 248900 | Mast syndrome | 248900 | C1855346 | OMIM | 1 | | 162 | 20373 | 608181 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | SPG21 CL E G H | 51324 | 248900 | Mast syndrome | 248900 | C1855346 | OMIM | 1 | | 162 | 20373 | 608181 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | SPG21 CL E G H | 51324 | 248900 | Mast syndrome | 248900 | C1855346 | OMIM | 1 | | 162 | 20373 | 608181 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | TMEM106B CL E G H | 54664 | 100069 | | | | ORPHA | 1 | | 128 | 22407 | 613413 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | TMEM106B CL E G H | 54664 | 100069 | | | | ORPHA | 1 | | 128 | 22407 | 613413 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | TMEM106B CL E G H | 54664 | 100069 | | | | ORPHA | 1 | | 128 | 22407 | 613413 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | TMEM106B CL E G H | 54664 | 100069 | | | | ORPHA | 1 | | 128 | 22407 | 613413 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | TREM2 CL E G H | 54209 | 100069 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | TREM2 CL E G H | 54209 | 100069 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | TREM2 CL E G H | 54209 | 100069 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | TREM2 CL E G H | 54209 | 100069 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | TREX1 CL E G H | 11277 | 192315 | Vasculopathy, retinal, with cerebral leukodystrophy | 192315 | C1860518 | OMIM | 1 | | 418 | 12269 | 606609 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | TREX1 CL E G H | 11277 | 192315 | Vasculopathy, retinal, with cerebral leukodystrophy | 192315 | C1860518 | OMIM | 1 | | 418 | 12269 | 606609 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | TREX1 CL E G H | 11277 | 192315 | Vasculopathy, retinal, with cerebral leukodystrophy | 192315 | C1860518 | OMIM | 1 | | 418 | 12269 | 606609 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | TREX1 CL E G H | 11277 | 192315 | Vasculopathy, retinal, with cerebral leukodystrophy | 192315 | C1860518 | OMIM | 1 | | 418 | 12269 | 606609 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | TTR CL E G H | 7276 | 105210 | Amyloidogenic transthyretin amyloidosis | 105210 | C2751492 | OMIM | 1 | | 377 | 12405 | 176300 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | TTR CL E G H | 7276 | 105210 | Amyloidogenic transthyretin amyloidosis | 105210 | C2751492 | OMIM | 1 | | 377 | 12405 | 176300 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | TTR CL E G H | 7276 | 105210 | Amyloidogenic transthyretin amyloidosis | 105210 | C2751492 | OMIM | 1 | | 377 | 12405 | 176300 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | TTR CL E G H | 7276 | 105210 | Amyloidogenic transthyretin amyloidosis | 105210 | C2751492 | OMIM | 1 | | 377 | 12405 | 176300 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | TWNK CL E G H | 56652 | 609286 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609286 | C1836439 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | TWNK CL E G H | 56652 | 609286 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609286 | C1836439 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | TWNK CL E G H | 56652 | 609286 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609286 | C1836439 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | TWNK CL E G H | 56652 | 609286 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609286 | C1836439 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | VCP CL E G H | 7415 | 329478 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | VCP CL E G H | 7415 | 329478 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | VCP CL E G H | 7415 | 329478 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | VCP CL E G H | 7415 | 329478 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | VCP CL E G H | 7415 | 167320 | Inclusion body myopathy with early-onset paget disease and frontotemporal dementia | 167320 | C1833662 | OMIM | 1 | | 607 | 12666 | 601023 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | VCP CL E G H | 7415 | 167320 | Inclusion body myopathy with early-onset paget disease and frontotemporal dementia | 167320 | C1833662 | OMIM | 1 | | 607 | 12666 | 601023 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | VCP CL E G H | 7415 | 167320 | Inclusion body myopathy with early-onset paget disease and frontotemporal dementia | 167320 | C1833662 | OMIM | 1 | | 607 | 12666 | 601023 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | VCP CL E G H | 7415 | 167320 | Inclusion body myopathy with early-onset paget disease and frontotemporal dementia | 167320 | C1833662 | OMIM | 1 | | 607 | 12666 | 601023 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 1 | | 828 | 23594 | 608879 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 1 | | 828 | 23594 | 608879 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 1 | | 828 | 23594 | 608879 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 1 | | 828 | 23594 | 608879 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | WDR45 CL E G H | 11152 | 329284 | | | | ORPHA | 1 | | 587 | 28912 | 300526 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | WDR45 CL E G H | 11152 | 329284 | | | | ORPHA | 1 | | 587 | 28912 | 300526 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | WDR45 CL E G H | 11152 | 329284 | | | | ORPHA | 1 | | 587 | 28912 | 300526 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | WDR45 CL E G H | 11152 | 329284 | | | | ORPHA | 1 | | 587 | 28912 | 300526 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | WDR45 CL E G H | 11152 | 300894 | Neurodegeneration with brain iron accumulation 5 | 300894 | C3550973 | OMIM | 1 | | 587 | 28912 | 300526 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | WDR45 CL E G H | 11152 | 300894 | Neurodegeneration with brain iron accumulation 5 | 300894 | C3550973 | OMIM | 1 | | 587 | 28912 | 300526 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | WDR45 CL E G H | 11152 | 300894 | Neurodegeneration with brain iron accumulation 5 | 300894 | C3550973 | OMIM | 1 | | 587 | 28912 | 300526 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | WDR45 CL E G H | 11152 | 300894 | Neurodegeneration with brain iron accumulation 5 | 300894 | C3550973 | OMIM | 1 | | 587 | 28912 | 300526 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | WFS1 CL E G H | 7466 | 411590 | | | | ORPHA | 1 | | 1634 | 12762 | 606201 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | WFS1 CL E G H | 7466 | 411590 | | | | ORPHA | 1 | | 1634 | 12762 | 606201 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | WFS1 CL E G H | 7466 | 411590 | | | | ORPHA | 1 | | 1634 | 12762 | 606201 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | WFS1 CL E G H | 7466 | 411590 | | | | ORPHA | 1 | | 1634 | 12762 | 606201 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | XPR1 CL E G H | 9213 | 616413 | Basal ganglia calcification, idiopathic, 6 | 616413 | C4225335 | OMIM | 1 | | 234 | 12827 | 605237 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | XPR1 CL E G H | 9213 | 616413 | Basal ganglia calcification, idiopathic, 6 | 616413 | C4225335 | OMIM | 1 | | 234 | 12827 | 605237 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | XPR1 CL E G H | 9213 | 616413 | Basal ganglia calcification, idiopathic, 6 | 616413 | C4225335 | OMIM | 1 | | 234 | 12827 | 605237 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | XPR1 CL E G H | 9213 | 616413 | Basal ganglia calcification, idiopathic, 6 | 616413 | C4225335 | OMIM | 1 | | 234 | 12827 | 605237 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | AARS2 CL E G H | 57505 | 615889 | Leukoencephalopathy, progressive, with ovarian failure | 615889 | C4014588 | OMIM | 1 | | 543 | 21022 | 612035 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | ABCD1 CL E G H | 215 | 300100 | Adrenoleukodystrophy | 300100 | C0162309 | OMIM | 1 | | 1492 | 61 | 300371 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | ADA2 CL E G H | 51816 | 820 | | | | ORPHA | 1 | | 533 | 1839 | 607575 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | AMN CL E G H | 81693 | 261100 | Megaloblastic anemia due to inborn errors of metabolism | 261100 | C1306856 | OMIM | 1 | | 298 | 14604 | 605799 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | APOE CL E G H | 348 | 104310 | Alzheimer disease 2 | 104310 | C1863051 | OMIM | 1 | | 166 | 613 | 107741 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | APOE CL E G H | 348 | 606889 | Alzheimer disease, type 4 | 606889 | C1847200 | OMIM | 1 | | 166 | 613 | 107741 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | APP CL E G H | 351 | 324708 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | APP CL E G H | 351 | 100006 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | APP CL E G H | 351 | 324713 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | APP CL E G H | 351 | 324703 | | | | ORPHA | 1 | | 506 | 620 | 104760 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | APP CL E G H | 351 | 104300 | Alzheimer's disease | 104300 | C0002395 | OMIM | 1 | | 506 | 620 | 104760 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | APP CL E G H | 351 | 605714 | Cerebral amyloid angiopathy, APP-related | 605714 | C2751536 | OMIM | 1 | | 506 | 620 | 104760 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 331 | 15984 | 606350 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | ARSA CL E G H | 410 | 309271 | | | | ORPHA | 1 | | 1140 | 713 | 607574 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | ASAH1 CL E G H | 427 | 2590 | | | | ORPHA | 1 | | 913 | 735 | 613468 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | ASAH1 CL E G H | 427 | 159950 | Jankovic Rivera syndrome | 159950 | C1834569 | OMIM | 1 | | 913 | 735 | 613468 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 213 | 3033 | 607462 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | ATP13A2 CL E G H | 23400 | 306674 | | | | ORPHA | 1 | | 974 | 30213 | 610513 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 974 | 30213 | 610513 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | ATP6V0A2 CL E G H | 23545 | 357074 | | | | ORPHA | 1 | | 610 | 18481 | 611716 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | ATP6V1A CL E G H | 523 | 357074 | | | | ORPHA | 1 | | 229 | 851 | 607027 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | ATP6V1E1 CL E G H | 529 | 357074 | | | | ORPHA | 1 | | 196 | 857 | 108746 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | ATP7B CL E G H | 540 | 277900 | Wilson disease | 277900 | C0019202 | OMIM | 1 | | 2303 | 870 | 606882 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 116 | 10549 | 611150 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | ATXN2 CL E G H | 6311 | 98756 | | | | ORPHA | 1 | | 115 | 10555 | 601517 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 115 | 10555 | 601517 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 65 | 7106 | 607047 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 307 | 25443 | 614297 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | C9orf72 CL E G H | 203228 | 100069 | | | | ORPHA | 1 | | 177 | 28337 | 614260 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | CERS1 CL E G H | 10715 | 616230 | Epilepsy, progressive myoclonic 8 | 616230 | C4015619 | OMIM | 1 | | 411 | 14253 | 606919 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | CHMP2B CL E G H | 25978 | 100069 | | | | ORPHA | 1 | | 160 | 24537 | 609512 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | CLN3 CL E G H | 1201 | 204200 | Juvenile neuronal ceroid lipofuscinosis | 204200 | C0751383 | OMIM | 1 | | 1015 | 2074 | 607042 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | CLN6 CL E G H | 54982 | 204300 | Adult neuronal ceroid lipofuscinosis | 204300 | C0022797 | OMIM | 1 | | 661 | 2077 | 606725 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | CP CL E G H | 1356 | 48818 | | | | ORPHA | 1 | | 831 | 2295 | 117700 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | CST3 CL E G H | 1471 | 105150 | Hereditary cerebral amyloid angiopathy, Icelandic type | 105150 | C1527338 | OMIM | 1 | | 54 | 2475 | 604312 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | CTSF CL E G H | 8722 | 615362 | Ceroid lipofuscinosis, neuronal, 13 | 615362 | C3715049 | OMIM | 1 | | 218 | 2531 | 603539 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | CUBN CL E G H | 8029 | 261100 | Megaloblastic anemia due to inborn errors of metabolism | 261100 | C1306856 | OMIM | 1 | | 1581 | 2548 | 602997 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | CYP27A1 CL E G H | 1593 | 213700 | Cholestanol storage disease | 213700 | C0238052 | OMIM | 1 | | 940 | 2605 | 606530 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | DNAJC5 CL E G H | 80331 | 162350 | Ceroid lipofuscinosis neuronal 4B autosomal dominant | 162350 | C1834207 | OMIM | 1 | | 428 | 16235 | 611203 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | DNMT1 CL E G H | 1786 | 604121 | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant | 604121 | C1858804 | OMIM | 1 | | 1196 | 2976 | 126375 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | DNMT1 CL E G H | 1786 | 614116 | Hereditary sensory neuropathy type IE | 614116 | C3279885 | OMIM | 1 | | 1196 | 2976 | 126375 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | EPM2A CL E G H | 7957 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 416 | 3413 | 607566 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | ERCC8 CL E G H | 1161 | 216400 | Cockayne syndrome type A | 216400 | C0751039 | OMIM | 1 | | 484 | 3439 | 609412 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 1 | | 371 | 3775 | 309550 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | FMR1 CL E G H | 2332 | 300623 | Fragile X tremor/ataxia syndrome | 300623 | C1839780 | OMIM | 1 | | 371 | 3775 | 309550 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | GBA CL E G H | 2629 | 77261 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | GBA CL E G H | 2629 | 231000 | Subacute neuronopathic Gaucher's disease | 231000 | C0268251 | OMIM | 1 | | | 4177 | 606463 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | GM2A CL E G H | 2760 | 272750 | Tay-Sachs disease, variant AB | 272750 | C0268275 | OMIM | 1 | | 212 | 4367 | 613109 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | GRN CL E G H | 2896 | 100069 | | | | ORPHA | 1 | | 594 | 4601 | 138945 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | HEXA CL E G H | 3073 | 272800 | Tay-Sachs disease | 272800 | C0039373 | OMIM | 1 | | 1002 | 4878 | 606869 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | HTRA1 CL E G H | 5654 | 616779 | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | 616779 | C4225211 | OMIM | 1 | | 285 | 9476 | 602194 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | HTRA1 CL E G H | 5654 | 600142 | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy | 600142 | C1838577 | OMIM | 1 | | 285 | 9476 | 602194 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | HTT CL E G H | 3064 | 248111 | | | | ORPHA | 1 | | 760 | 4851 | 613004 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | HTT CL E G H | 3064 | 399 | 46,XX testicular disorder of sex development | | C2936420 | ORPHA | 1 | | 760 | 4851 | 613004 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 760 | 4851 | 613004 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | IRF6 CL E G H | 3664 | 119500 | Popliteal pterygium syndrome | 119500 | C0265259 | OMIM | 1 | | 317 | 6121 | 607199 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | ITM2B CL E G H | 9445 | 176500 | Dementia familial British | 176500 | C1867773 | OMIM | 1 | | 177 | 6174 | 603904 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | ITM2B CL E G H | 9445 | 117300 | Dementia, familial Danish | 117300 | C1861735 | OMIM | 1 | | 177 | 6174 | 603904 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | JPH3 CL E G H | 57338 | 606438 | Huntington disease-like 2 | 606438 | C1847987 | OMIM | 1 | | 176 | 14203 | 605268 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | MAPT CL E G H | 4137 | 100069 | | | | ORPHA | 1 | | 581 | 6893 | 157140 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | MAPT CL E G H | 4137 | 260540 | Parkinson-dementia syndrome | 260540 | C1850077 | OMIM | 1 | | 581 | 6893 | 157140 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | MBTPS2 CL E G H | 51360 | 2273 | Fara Chlupackova syndrome | | | ORPHA | 1 | | 309 | 15455 | 300294 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | MECP2 CL E G H | 4204 | 312750 | Rett syndrome | 312750 | C0035372 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | MMACHC CL E G H | 25974 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 524 | 24525 | 609831 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | MT-ATP6 CL E G H | 4508 | 644 | | | | ORPHA | 1 | | | 7414 | 516060 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | MT-ATP6 CL E G H | 4508 | 551500 | Neuropathy ataxia retinitis pigmentosa syndrome | 551500 | C1328349 | OMIM | 1 | | | 7414 | 516060 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | MT-CO1 CL E G H | 4512 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7419 | 516030 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | MT-CO2 CL E G H | 4513 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7421 | 516040 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | MT-CO3 CL E G H | 4514 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7422 | 516050 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | MT-CYB CL E G H | 4519 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7427 | 516020 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | MT-ND1 CL E G H | 4535 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7455 | 516000 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | MT-ND5 CL E G H | 4540 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7461 | 516005 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | MT-ND6 CL E G H | 4541 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7462 | 516006 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | MT-TC CL E G H | 4511 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7477 | 590020 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | MT-TF CL E G H | 4558 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7481 | 590070 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | MT-TK CL E G H | 4566 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7489 | 590060 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | MT-TL1 CL E G H | 4567 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7490 | 590050 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | MT-TQ CL E G H | 4572 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7495 | 590030 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | MT-TS1 CL E G H | 4574 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7497 | 590080 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | MT-TS2 CL E G H | 4575 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7498 | 590085 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | MT-TV CL E G H | 4577 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7500 | 590105 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | MT-TW CL E G H | 4578 | 540000 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 540000 | C0162671 | OMIM | 1 | | | 7501 | 590095 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | NDP CL E G H | 4693 | 310600 | Atrophia bulborum hereditaria | 310600 | C0266526 | OMIM | 1 | | 299 | 7678 | 300658 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | NHLRC1 CL E G H | 378884 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 351 | 21576 | 608072 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | NOTCH3 CL E G H | 4854 | 136 | | | | ORPHA | 1 | | 1343 | 7883 | 600276 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | NPC1 CL E G H | 4864 | 257220 | Niemann-Pick disease type C1 | 257220 | C3179455 | OMIM | 1 | | 2109 | 7897 | 607623 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | NPC2 CL E G H | 10577 | 607625 | Niemann-Pick disease type C2 | 607625 | C1843366 | OMIM | 1 | | 232 | 14537 | 601015 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | NR4A2 CL E G H | 4929 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 143 | 7981 | 601828 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | PANK2 CL E G H | 80025 | 607236 | Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | 607236 | C1846582 | OMIM | 1 | | 499 | 15894 | 606157 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | PANK2 CL E G H | 80025 | 234200 | Pigmentary pallidal degeneration | 234200 | C0018523 | OMIM | 1 | | 499 | 15894 | 606157 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | PDGFB CL E G H | 5155 | 615483 | Idiopathic basal ganglia calcification 5 | 615483 | C3809645 | OMIM | 1 | | 151 | 8800 | 190040 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | PINK1 CL E G H | 65018 | 605909 | Parkinson disease 6, autosomal recessive early-onset | 605909 | C1853833 | OMIM | 1 | | 384 | 14581 | 608309 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 2324 | 9179 | 174763 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | PPP2R2B CL E G H | 5521 | 604326 | Spinocerebellar ataxia 12 | 604326 | C1858501 | OMIM | 1 | | 71 | 9305 | 604325 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | PRDM8 CL E G H | 56978 | 616640 | Epilepsy, progressive myoclonic, 10 | 616640 | C4225258 | OMIM | 1 | | 439 | 13993 | 616639 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | PRDX1 CL E G H | 5052 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 64 | 9352 | 176763 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | PRNP CL E G H | 5621 | 603218 | Huntington disease-like 1 | 603218 | C1864112 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | PRNP CL E G H | 5621 | 123400 | Jakob-Creutzfeldt disease | 123400 | C0022336 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | PRNP CL E G H | 5621 | 606688 | Spongiform encephalopathy with neuropsychiatric features | 606688 | C1847650 | OMIM | 1 | | 191 | 9449 | 176640 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | PSAP CL E G H | 5660 | 309271 | | | | ORPHA | 1 | | 772 | 9498 | 176801 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | PSEN1 CL E G H | 5663 | 100069 | | | | ORPHA | 1 | | 501 | 9508 | 104311 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | PSEN1 CL E G H | 5663 | 607822 | Alzheimer disease, type 3 | 607822 | C1843013 | OMIM | 1 | | 501 | 9508 | 104311 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | PSEN2 CL E G H | 5664 | 606889 | Alzheimer disease, type 4 | 606889 | C1847200 | OMIM | 1 | | 279 | 9509 | 600759 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | RNF216 CL E G H | 54476 | 212840 | Gordon Holmes syndrome | 212840 | C1859305 | OMIM | 1 | | 297 | 21698 | 609948 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | ROGDI CL E G H | 79641 | 1946 | | | | ORPHA | 1 | | 560 | 29478 | 614574 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | ROGDI CL E G H | 79641 | 226750 | Kohlschutter's syndrome | 226750 | C0406740 | OMIM | 1 | | 560 | 29478 | 614574 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | SERPINI1 CL E G H | 5274 | 604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | 604218 | C1858680 | OMIM | 1 | | 310 | 8943 | 602445 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | SLC13A5 CL E G H | 284111 | 1946 | | | | ORPHA | 1 | | 685 | 23089 | 608305 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | SLC2A3 CL E G H | 6515 | 399 | 46,XX testicular disorder of sex development | | C2936420 | ORPHA | 1 | | 90 | 11007 | 138170 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | SNCA CL E G H | 6622 | 127750 | Lewy body dementia | 127750 | C0752347 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | SNCA CL E G H | 6622 | 605543 | Parkinson disease 4 | 605543 | C1854182 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | SNCAIP CL E G H | 9627 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 160 | 11139 | 603779 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | SNCB CL E G H | 6620 | 127750 | Lewy body dementia | 127750 | C0752347 | OMIM | 1 | | 72 | 11140 | 602569 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | SPAST CL E G H | 6683 | 182601 | Spastic paraplegia 4, autosomal dominant | 182601 | C1866855 | OMIM | 1 | | 1215 | 11233 | 604277 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | SPG21 CL E G H | 51324 | 101001 | | | | ORPHA | 1 | | 162 | 20373 | 608181 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | SPG21 CL E G H | 51324 | 248900 | Mast syndrome | 248900 | C1855346 | OMIM | 1 | | 162 | 20373 | 608181 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | TMEM106B CL E G H | 54664 | 100069 | | | | ORPHA | 1 | | 128 | 22407 | 613413 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | TREM2 CL E G H | 54209 | 100069 | | | | ORPHA | 1 | | 154 | 17761 | 605086 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | TREX1 CL E G H | 11277 | 192315 | Vasculopathy, retinal, with cerebral leukodystrophy | 192315 | C1860518 | OMIM | 1 | | 418 | 12269 | 606609 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | TTR CL E G H | 7276 | 105210 | Amyloidogenic transthyretin amyloidosis | 105210 | C2751492 | OMIM | 1 | | 377 | 12405 | 176300 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | TWNK CL E G H | 56652 | 609286 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609286 | C1836439 | OMIM | 1 | | 450 | 1160 | 606075 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | VCP CL E G H | 7415 | 329478 | | | | ORPHA | 1 | | 607 | 12666 | 601023 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | VCP CL E G H | 7415 | 167320 | Inclusion body myopathy with early-onset paget disease and frontotemporal dementia | 167320 | C1833662 | OMIM | 1 | | 607 | 12666 | 601023 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 1 | | 828 | 23594 | 608879 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | WDR45 CL E G H | 11152 | 329284 | | | | ORPHA | 1 | | 587 | 28912 | 300526 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | WDR45 CL E G H | 11152 | 300894 | Neurodegeneration with brain iron accumulation 5 | 300894 | C3550973 | OMIM | 1 | | 587 | 28912 | 300526 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | WFS1 CL E G H | 7466 | 411590 | | | | ORPHA | 1 | | 1634 | 12762 | 606201 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | XPR1 CL E G H | 9213 | 616413 | Basal ganglia calcification, idiopathic, 6 | 616413 | C4225335 | OMIM | 1 | | 234 | 12827 | 605237 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000726 | HP:0000726 | Dementia | 0 | ALDH18A1 CL E G H | 5832 | 447757 | | | | ORPHA | 0 | | 586 | 9722 | 138250 |
HP:0000726 | HP:0000726 | Dementia | 0 | ALDH18A1 CL E G H | 5832 | 447753 | | | | ORPHA | 0 | | 586 | 9722 | 138250 |
HP:0000726 | HP:0000726 | Dementia | 0 | ATN1 CL E G H | 1822 | 125370 | Dentatorubral pallidoluysian atrophy | 125370 | C0751781 | OMIM | 0 | | 213 | 3033 | 607462 |
HP:0000726 | HP:0000726 | Dementia | 0 | ATP13A2 CL E G H | 23400 | 513436 | | | | ORPHA | 0 | | 974 | 30213 | 610513 |
HP:0000726 | HP:0000726 | Dementia | 0 | ATP13A2 CL E G H | 23400 | 617225 | Spastic paraplegia 78, autosomal recessive | 617225 | C4310662 | OMIM | 0 | | 974 | 30213 | 610513 |
HP:0000726 | HP:0000726 | Dementia | 0 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 0 | | 71 | 24212 | 611507 |
HP:0000726 | HP:0000726 | Dementia | 0 | CSTB CL E G H | 1476 | 308 | | | | ORPHA | 0 | | 261 | 2482 | 601145 |
HP:0000726 | HP:0000726 | Dementia | 0 | DCTN1 CL E G H | 1639 | 178509 | | | | ORPHA | 0 | | 1084 | 2711 | 601143 |
HP:0000726 | HP:0000726 | Dementia | 0 | DGUOK CL E G H | 1716 | 329314 | | | | ORPHA | 0 | | 239 | 2858 | 601465 |
HP:0000726 | HP:0000726 | Dementia | 0 | DNAJC13 CL E G H | 23317 | 411602 | | | | ORPHA | 0 | | 237 | 30343 | 614334 |
HP:0000726 | HP:0000726 | Dementia | 0 | EIF4G1 CL E G H | 1981 | 411602 | | | | ORPHA | 0 | | 147 | 3296 | 600495 |
HP:0000726 | HP:0000726 | Dementia | 0 | ERCC4 CL E G H | 2072 | 278760 | Xeroderma pigmentosum, group F | 278760 | C0268140 | OMIM | 0 | | 726 | 3436 | 133520 |
HP:0000726 | HP:0000726 | Dementia | 0 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 0 | | 243 | 13586 | 605648 |
HP:0000726 | HP:0000726 | Dementia | 0 | FTL CL E G H | 2512 | 157846 | | | | ORPHA | 0 | | 185 | 3999 | 134790 |
HP:0000726 | HP:0000726 | Dementia | 0 | GBA CL E G H | 2629 | 411602 | | | | ORPHA | 0 | | | 4177 | 606463 |
HP:0000726 | HP:0000726 | Dementia | 0 | GBA2 CL E G H | 57704 | 320391 | | | | ORPHA | 0 | | 355 | 18986 | 609471 |
HP:0000726 | HP:0000726 | Dementia | 0 | GBA2 CL E G H | 57704 | 614409 | Spastic paraplegia 46, autosomal recessive | 614409 | C2828721 | OMIM | 0 | | 355 | 18986 | 609471 |
HP:0000726 | HP:0000726 | Dementia | 0 | GBE1 CL E G H | 2632 | 206583 | | | | ORPHA | 0 | | 784 | 4180 | 607839 |
HP:0000726 | HP:0000726 | Dementia | 0 | GIGYF2 CL E G H | 26058 | 411602 | | | | ORPHA | 0 | | 338 | 11960 | 612003 |
HP:0000726 | HP:0000726 | Dementia | 0 | GPIHBP1 CL E G H | 338328 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 0 | | 187 | 24945 | 612757 |
HP:0000726 | HP:0000726 | Dementia | 0 | JPH3 CL E G H | 57338 | 98934 | | | | ORPHA | 0 | | 176 | 14203 | 605268 |
HP:0000726 | HP:0000726 | Dementia | 0 | KCTD7 CL E G H | 154881 | 263516 | | | | ORPHA | 0 | | 427 | 21957 | 611725 |
HP:0000726 | HP:0000726 | Dementia | 0 | LMF1 CL E G H | 64788 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 0 | | 554 | 14154 | 611761 |
HP:0000726 | HP:0000726 | Dementia | 0 | LRRK2 CL E G H | 120892 | 411602 | | | | ORPHA | 0 | | 2948 | 18618 | 609007 |
HP:0000726 | HP:0000726 | Dementia | 0 | MATR3 CL E G H | 9782 | 600 | | | | ORPHA | 0 | | 450 | 6912 | 164015 |
HP:0000726 | HP:0000726 | Dementia | 0 | MATR3 CL E G H | 9782 | 606070 | Amyotrophic lateral sclerosis 21 | 606070 | C3807521 | OMIM | 0 | | 450 | 6912 | 164015 |
HP:0000726 | HP:0000726 | Dementia | 0 | MT-TE CL E G H | 4556 | 2596 | Hantavirosis | | | ORPHA | 0 | | | 7479 | 590025 |
HP:0000726 | HP:0000726 | Dementia | 0 | PDGFRB CL E G H | 5159 | 615007 | Basal ganglia calcification, idiopathic, 4 | 615007 | C3554321 | OMIM | 0 | | 531 | 8804 | 173410 |
HP:0000726 | HP:0000726 | Dementia | 0 | PNPLA6 CL E G H | 10908 | 1173 | CDG syndrome type 3 | | | ORPHA | 0 | | 1216 | 16268 | 603197 |
HP:0000726 | HP:0000726 | Dementia | 0 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 0 | | 2324 | 9179 | 174763 |
HP:0000726 | HP:0000726 | Dementia | 0 | PPP2R2B CL E G H | 5521 | 98762 | | | | ORPHA | 0 | | 71 | 9305 | 604325 |
HP:0000726 | HP:0000726 | Dementia | 0 | PRICKLE1 CL E G H | 144165 | 308 | | | | ORPHA | 0 | | 570 | 17019 | 608500 |
HP:0000726 | HP:0000726 | Dementia | 0 | RAB39B CL E G H | 116442 | 311510 | Parkinsonism, early onset with mental retardation | 311510 | C0796195 | OMIM | 0 | | 320 | 16499 | 300774 |
HP:0000726 | HP:0000726 | Dementia | 0 | RNF216 CL E G H | 54476 | 1173 | CDG syndrome type 3 | | | ORPHA | 0 | | 297 | 21698 | 609948 |
HP:0000726 | HP:0000726 | Dementia | 0 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 0 | | 354 | 17296 | 604712 |
HP:0000726 | HP:0000726 | Dementia | 0 | SCARB2 CL E G H | 950 | 308 | | | | ORPHA | 0 | | 474 | 1665 | 602257 |
HP:0000726 | HP:0000726 | Dementia | 0 | SDHA CL E G H | 6389 | 3208 | | | | ORPHA | 0 | | 2503 | 10680 | 600857 |
HP:0000726 | HP:0000726 | Dementia | 0 | SDHAF1 CL E G H | 644096 | 3208 | | | | ORPHA | 0 | | 77 | 33867 | 612848 |
HP:0000726 | HP:0000726 | Dementia | 0 | SDHB CL E G H | 6390 | 3208 | | | | ORPHA | 0 | | 1249 | 10681 | 185470 |
HP:0000726 | HP:0000726 | Dementia | 0 | SDHD CL E G H | 6392 | 3208 | | | | ORPHA | 0 | | 686 | 10683 | 602690 |
HP:0000726 | HP:0000726 | Dementia | 0 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 0 | | 193 | 11138 | 163890 |
HP:0000726 | HP:0000726 | Dementia | 0 | SNCA CL E G H | 6622 | 411602 | | | | ORPHA | 0 | | 193 | 11138 | 163890 |
HP:0000726 | HP:0000726 | Dementia | 0 | TUBB4A CL E G H | 10382 | 98805 | | | | ORPHA | 0 | | 272 | 20774 | 602662 |
HP:0000726 | HP:0000726 | Dementia | 0 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 0 | | 895 | 3148 | 131222 |
HP:0000726 | HP:0000726 | Dementia | 0 | VPS13A CL E G H | 23230 | 200150 | Choreoacanthocytosis | 200150 | C0393576 | OMIM | 0 | | 2362 | 1908 | 605978 |
HP:0000726 | HP:0000726 | Dementia | 0 | VPS35 CL E G H | 55737 | 411602 | | | | ORPHA | 0 | | 228 | 13487 | 601501 |
HP:0000726 | HP:0000726 | Dementia | 0 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 0 | | 1634 | 12762 | 606201 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | ALDH18A1 CL E G H | 5832 | 447753 | | | | ORPHA | 0 | | 586 | 9722 | 138250 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | ALDH18A1 CL E G H | 5832 | 447757 | | | | ORPHA | 0 | | 586 | 9722 | 138250 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | ALDH18A1 CL E G H | 5832 | 447753 | | | | ORPHA | 0 | | 586 | 9722 | 138250 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | ALDH18A1 CL E G H | 5832 | 447757 | | | | ORPHA | 0 | | 586 | 9722 | 138250 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | ALDH18A1 CL E G H | 5832 | 447757 | | | | ORPHA | 0 | | 586 | 9722 | 138250 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | ALDH18A1 CL E G H | 5832 | 447757 | | | | ORPHA | 0 | | 586 | 9722 | 138250 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | ALDH18A1 CL E G H | 5832 | 447753 | | | | ORPHA | 0 | | 586 | 9722 | 138250 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | ALDH18A1 CL E G H | 5832 | 447753 | | | | ORPHA | 0 | | 586 | 9722 | 138250 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | ATN1 CL E G H | 1822 | 125370 | Dentatorubral pallidoluysian atrophy | 125370 | C0751781 | OMIM | 0 | | 213 | 3033 | 607462 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | ATN1 CL E G H | 1822 | 125370 | Dentatorubral pallidoluysian atrophy | 125370 | C0751781 | OMIM | 0 | | 213 | 3033 | 607462 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | ATN1 CL E G H | 1822 | 125370 | Dentatorubral pallidoluysian atrophy | 125370 | C0751781 | OMIM | 0 | | 213 | 3033 | 607462 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | ATN1 CL E G H | 1822 | 125370 | Dentatorubral pallidoluysian atrophy | 125370 | C0751781 | OMIM | 0 | | 213 | 3033 | 607462 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | ATP13A2 CL E G H | 23400 | 513436 | | | | ORPHA | 0 | | 974 | 30213 | 610513 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | ATP13A2 CL E G H | 23400 | 513436 | | | | ORPHA | 0 | | 974 | 30213 | 610513 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | ATP13A2 CL E G H | 23400 | 513436 | | | | ORPHA | 0 | | 974 | 30213 | 610513 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | ATP13A2 CL E G H | 23400 | 513436 | | | | ORPHA | 0 | | 974 | 30213 | 610513 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | ATP13A2 CL E G H | 23400 | 617225 | Spastic paraplegia 78, autosomal recessive | 617225 | C4310662 | OMIM | 0 | | 974 | 30213 | 610513 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | ATP13A2 CL E G H | 23400 | 617225 | Spastic paraplegia 78, autosomal recessive | 617225 | C4310662 | OMIM | 0 | | 974 | 30213 | 610513 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | ATP13A2 CL E G H | 23400 | 617225 | Spastic paraplegia 78, autosomal recessive | 617225 | C4310662 | OMIM | 0 | | 974 | 30213 | 610513 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | ATP13A2 CL E G H | 23400 | 617225 | Spastic paraplegia 78, autosomal recessive | 617225 | C4310662 | OMIM | 0 | | 974 | 30213 | 610513 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 0 | | 71 | 24212 | 611507 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 0 | | 71 | 24212 | 611507 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 0 | | 71 | 24212 | 611507 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 0 | | 71 | 24212 | 611507 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | CSTB CL E G H | 1476 | 308 | | | | ORPHA | 0 | | 261 | 2482 | 601145 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | CSTB CL E G H | 1476 | 308 | | | | ORPHA | 0 | | 261 | 2482 | 601145 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | CSTB CL E G H | 1476 | 308 | | | | ORPHA | 0 | | 261 | 2482 | 601145 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | CSTB CL E G H | 1476 | 308 | | | | ORPHA | 0 | | 261 | 2482 | 601145 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | DCTN1 CL E G H | 1639 | 178509 | | | | ORPHA | 0 | | 1084 | 2711 | 601143 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | DCTN1 CL E G H | 1639 | 178509 | | | | ORPHA | 0 | | 1084 | 2711 | 601143 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | DCTN1 CL E G H | 1639 | 178509 | | | | ORPHA | 0 | | 1084 | 2711 | 601143 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | DCTN1 CL E G H | 1639 | 178509 | | | | ORPHA | 0 | | 1084 | 2711 | 601143 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | DGUOK CL E G H | 1716 | 329314 | | | | ORPHA | 0 | | 239 | 2858 | 601465 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | DGUOK CL E G H | 1716 | 329314 | | | | ORPHA | 0 | | 239 | 2858 | 601465 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | DGUOK CL E G H | 1716 | 329314 | | | | ORPHA | 0 | | 239 | 2858 | 601465 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | DGUOK CL E G H | 1716 | 329314 | | | | ORPHA | 0 | | 239 | 2858 | 601465 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | DNAJC13 CL E G H | 23317 | 411602 | | | | ORPHA | 0 | | 237 | 30343 | 614334 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | DNAJC13 CL E G H | 23317 | 411602 | | | | ORPHA | 0 | | 237 | 30343 | 614334 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | DNAJC13 CL E G H | 23317 | 411602 | | | | ORPHA | 0 | | 237 | 30343 | 614334 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | DNAJC13 CL E G H | 23317 | 411602 | | | | ORPHA | 0 | | 237 | 30343 | 614334 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | EIF4G1 CL E G H | 1981 | 411602 | | | | ORPHA | 0 | | 147 | 3296 | 600495 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | EIF4G1 CL E G H | 1981 | 411602 | | | | ORPHA | 0 | | 147 | 3296 | 600495 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | EIF4G1 CL E G H | 1981 | 411602 | | | | ORPHA | 0 | | 147 | 3296 | 600495 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | EIF4G1 CL E G H | 1981 | 411602 | | | | ORPHA | 0 | | 147 | 3296 | 600495 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | ERCC4 CL E G H | 2072 | 278760 | Xeroderma pigmentosum, group F | 278760 | C0268140 | OMIM | 0 | | 726 | 3436 | 133520 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | ERCC4 CL E G H | 2072 | 278760 | Xeroderma pigmentosum, group F | 278760 | C0268140 | OMIM | 0 | | 726 | 3436 | 133520 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | ERCC4 CL E G H | 2072 | 278760 | Xeroderma pigmentosum, group F | 278760 | C0268140 | OMIM | 0 | | 726 | 3436 | 133520 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | ERCC4 CL E G H | 2072 | 278760 | Xeroderma pigmentosum, group F | 278760 | C0268140 | OMIM | 0 | | 726 | 3436 | 133520 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 0 | | 243 | 13586 | 605648 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 0 | | 243 | 13586 | 605648 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 0 | | 243 | 13586 | 605648 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 0 | | 243 | 13586 | 605648 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | FTL CL E G H | 2512 | 157846 | | | | ORPHA | 0 | | 185 | 3999 | 134790 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | FTL CL E G H | 2512 | 157846 | | | | ORPHA | 0 | | 185 | 3999 | 134790 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | FTL CL E G H | 2512 | 157846 | | | | ORPHA | 0 | | 185 | 3999 | 134790 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | FTL CL E G H | 2512 | 157846 | | | | ORPHA | 0 | | 185 | 3999 | 134790 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | GBA CL E G H | 2629 | 411602 | | | | ORPHA | 0 | | | 4177 | 606463 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | GBA CL E G H | 2629 | 411602 | | | | ORPHA | 0 | | | 4177 | 606463 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | GBA CL E G H | 2629 | 411602 | | | | ORPHA | 0 | | | 4177 | 606463 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | GBA CL E G H | 2629 | 411602 | | | | ORPHA | 0 | | | 4177 | 606463 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | GBA2 CL E G H | 57704 | 320391 | | | | ORPHA | 0 | | 355 | 18986 | 609471 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | GBA2 CL E G H | 57704 | 320391 | | | | ORPHA | 0 | | 355 | 18986 | 609471 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | GBA2 CL E G H | 57704 | 320391 | | | | ORPHA | 0 | | 355 | 18986 | 609471 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | GBA2 CL E G H | 57704 | 320391 | | | | ORPHA | 0 | | 355 | 18986 | 609471 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | GBA2 CL E G H | 57704 | 614409 | Spastic paraplegia 46, autosomal recessive | 614409 | C2828721 | OMIM | 0 | | 355 | 18986 | 609471 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | GBA2 CL E G H | 57704 | 614409 | Spastic paraplegia 46, autosomal recessive | 614409 | C2828721 | OMIM | 0 | | 355 | 18986 | 609471 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | GBA2 CL E G H | 57704 | 614409 | Spastic paraplegia 46, autosomal recessive | 614409 | C2828721 | OMIM | 0 | | 355 | 18986 | 609471 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | GBA2 CL E G H | 57704 | 614409 | Spastic paraplegia 46, autosomal recessive | 614409 | C2828721 | OMIM | 0 | | 355 | 18986 | 609471 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | GBE1 CL E G H | 2632 | 206583 | | | | ORPHA | 0 | | 784 | 4180 | 607839 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | GBE1 CL E G H | 2632 | 206583 | | | | ORPHA | 0 | | 784 | 4180 | 607839 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | GBE1 CL E G H | 2632 | 206583 | | | | ORPHA | 0 | | 784 | 4180 | 607839 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | GBE1 CL E G H | 2632 | 206583 | | | | ORPHA | 0 | | 784 | 4180 | 607839 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | GIGYF2 CL E G H | 26058 | 411602 | | | | ORPHA | 0 | | 338 | 11960 | 612003 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | GIGYF2 CL E G H | 26058 | 411602 | | | | ORPHA | 0 | | 338 | 11960 | 612003 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | GIGYF2 CL E G H | 26058 | 411602 | | | | ORPHA | 0 | | 338 | 11960 | 612003 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | GIGYF2 CL E G H | 26058 | 411602 | | | | ORPHA | 0 | | 338 | 11960 | 612003 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | GPIHBP1 CL E G H | 338328 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 0 | | 187 | 24945 | 612757 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | GPIHBP1 CL E G H | 338328 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 0 | | 187 | 24945 | 612757 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | GPIHBP1 CL E G H | 338328 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 0 | | 187 | 24945 | 612757 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | GPIHBP1 CL E G H | 338328 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 0 | | 187 | 24945 | 612757 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | JPH3 CL E G H | 57338 | 98934 | | | | ORPHA | 0 | | 176 | 14203 | 605268 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | JPH3 CL E G H | 57338 | 98934 | | | | ORPHA | 0 | | 176 | 14203 | 605268 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | JPH3 CL E G H | 57338 | 98934 | | | | ORPHA | 0 | | 176 | 14203 | 605268 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | JPH3 CL E G H | 57338 | 98934 | | | | ORPHA | 0 | | 176 | 14203 | 605268 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | KCTD7 CL E G H | 154881 | 263516 | | | | ORPHA | 0 | | 427 | 21957 | 611725 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | KCTD7 CL E G H | 154881 | 263516 | | | | ORPHA | 0 | | 427 | 21957 | 611725 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | KCTD7 CL E G H | 154881 | 263516 | | | | ORPHA | 0 | | 427 | 21957 | 611725 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | KCTD7 CL E G H | 154881 | 263516 | | | | ORPHA | 0 | | 427 | 21957 | 611725 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | LMF1 CL E G H | 64788 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 0 | | 554 | 14154 | 611761 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | LMF1 CL E G H | 64788 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 0 | | 554 | 14154 | 611761 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | LMF1 CL E G H | 64788 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 0 | | 554 | 14154 | 611761 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | LMF1 CL E G H | 64788 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 0 | | 554 | 14154 | 611761 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | LRRK2 CL E G H | 120892 | 411602 | | | | ORPHA | 0 | | 2948 | 18618 | 609007 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | LRRK2 CL E G H | 120892 | 411602 | | | | ORPHA | 0 | | 2948 | 18618 | 609007 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | LRRK2 CL E G H | 120892 | 411602 | | | | ORPHA | 0 | | 2948 | 18618 | 609007 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | LRRK2 CL E G H | 120892 | 411602 | | | | ORPHA | 0 | | 2948 | 18618 | 609007 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | MATR3 CL E G H | 9782 | 600 | | | | ORPHA | 0 | | 450 | 6912 | 164015 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | MATR3 CL E G H | 9782 | 600 | | | | ORPHA | 0 | | 450 | 6912 | 164015 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | MATR3 CL E G H | 9782 | 600 | | | | ORPHA | 0 | | 450 | 6912 | 164015 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | MATR3 CL E G H | 9782 | 600 | | | | ORPHA | 0 | | 450 | 6912 | 164015 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | MATR3 CL E G H | 9782 | 606070 | Amyotrophic lateral sclerosis 21 | 606070 | C3807521 | OMIM | 0 | | 450 | 6912 | 164015 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | MATR3 CL E G H | 9782 | 606070 | Amyotrophic lateral sclerosis 21 | 606070 | C3807521 | OMIM | 0 | | 450 | 6912 | 164015 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | MATR3 CL E G H | 9782 | 606070 | Amyotrophic lateral sclerosis 21 | 606070 | C3807521 | OMIM | 0 | | 450 | 6912 | 164015 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | MATR3 CL E G H | 9782 | 606070 | Amyotrophic lateral sclerosis 21 | 606070 | C3807521 | OMIM | 0 | | 450 | 6912 | 164015 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | MT-TE CL E G H | 4556 | 2596 | Hantavirosis | | | ORPHA | 0 | | | 7479 | 590025 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | MT-TE CL E G H | 4556 | 2596 | Hantavirosis | | | ORPHA | 0 | | | 7479 | 590025 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | MT-TE CL E G H | 4556 | 2596 | Hantavirosis | | | ORPHA | 0 | | | 7479 | 590025 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | MT-TE CL E G H | 4556 | 2596 | Hantavirosis | | | ORPHA | 0 | | | 7479 | 590025 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | PDGFRB CL E G H | 5159 | 615007 | Basal ganglia calcification, idiopathic, 4 | 615007 | C3554321 | OMIM | 0 | | 531 | 8804 | 173410 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | PDGFRB CL E G H | 5159 | 615007 | Basal ganglia calcification, idiopathic, 4 | 615007 | C3554321 | OMIM | 0 | | 531 | 8804 | 173410 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | PDGFRB CL E G H | 5159 | 615007 | Basal ganglia calcification, idiopathic, 4 | 615007 | C3554321 | OMIM | 0 | | 531 | 8804 | 173410 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | PDGFRB CL E G H | 5159 | 615007 | Basal ganglia calcification, idiopathic, 4 | 615007 | C3554321 | OMIM | 0 | | 531 | 8804 | 173410 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | PNPLA6 CL E G H | 10908 | 1173 | CDG syndrome type 3 | | | ORPHA | 0 | | 1216 | 16268 | 603197 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | PNPLA6 CL E G H | 10908 | 1173 | CDG syndrome type 3 | | | ORPHA | 0 | | 1216 | 16268 | 603197 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | PNPLA6 CL E G H | 10908 | 1173 | CDG syndrome type 3 | | | ORPHA | 0 | | 1216 | 16268 | 603197 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | PNPLA6 CL E G H | 10908 | 1173 | CDG syndrome type 3 | | | ORPHA | 0 | | 1216 | 16268 | 603197 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 0 | | 2324 | 9179 | 174763 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 0 | | 2324 | 9179 | 174763 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 0 | | 2324 | 9179 | 174763 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 0 | | 2324 | 9179 | 174763 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | PPP2R2B CL E G H | 5521 | 98762 | | | | ORPHA | 0 | | 71 | 9305 | 604325 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | PPP2R2B CL E G H | 5521 | 98762 | | | | ORPHA | 0 | | 71 | 9305 | 604325 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | PPP2R2B CL E G H | 5521 | 98762 | | | | ORPHA | 0 | | 71 | 9305 | 604325 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | PPP2R2B CL E G H | 5521 | 98762 | | | | ORPHA | 0 | | 71 | 9305 | 604325 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | PRICKLE1 CL E G H | 144165 | 308 | | | | ORPHA | 0 | | 570 | 17019 | 608500 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | PRICKLE1 CL E G H | 144165 | 308 | | | | ORPHA | 0 | | 570 | 17019 | 608500 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | PRICKLE1 CL E G H | 144165 | 308 | | | | ORPHA | 0 | | 570 | 17019 | 608500 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | PRICKLE1 CL E G H | 144165 | 308 | | | | ORPHA | 0 | | 570 | 17019 | 608500 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | RAB39B CL E G H | 116442 | 311510 | Parkinsonism, early onset with mental retardation | 311510 | C0796195 | OMIM | 0 | | 320 | 16499 | 300774 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | RAB39B CL E G H | 116442 | 311510 | Parkinsonism, early onset with mental retardation | 311510 | C0796195 | OMIM | 0 | | 320 | 16499 | 300774 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | RAB39B CL E G H | 116442 | 311510 | Parkinsonism, early onset with mental retardation | 311510 | C0796195 | OMIM | 0 | | 320 | 16499 | 300774 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | RAB39B CL E G H | 116442 | 311510 | Parkinsonism, early onset with mental retardation | 311510 | C0796195 | OMIM | 0 | | 320 | 16499 | 300774 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | RNF216 CL E G H | 54476 | 1173 | CDG syndrome type 3 | | | ORPHA | 0 | | 297 | 21698 | 609948 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | RNF216 CL E G H | 54476 | 1173 | CDG syndrome type 3 | | | ORPHA | 0 | | 297 | 21698 | 609948 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | RNF216 CL E G H | 54476 | 1173 | CDG syndrome type 3 | | | ORPHA | 0 | | 297 | 21698 | 609948 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | RNF216 CL E G H | 54476 | 1173 | CDG syndrome type 3 | | | ORPHA | 0 | | 297 | 21698 | 609948 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 0 | | 354 | 17296 | 604712 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 0 | | 354 | 17296 | 604712 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 0 | | 354 | 17296 | 604712 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 0 | | 354 | 17296 | 604712 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | SCARB2 CL E G H | 950 | 308 | | | | ORPHA | 0 | | 474 | 1665 | 602257 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | SCARB2 CL E G H | 950 | 308 | | | | ORPHA | 0 | | 474 | 1665 | 602257 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | SCARB2 CL E G H | 950 | 308 | | | | ORPHA | 0 | | 474 | 1665 | 602257 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | SCARB2 CL E G H | 950 | 308 | | | | ORPHA | 0 | | 474 | 1665 | 602257 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | SDHA CL E G H | 6389 | 3208 | | | | ORPHA | 0 | | 2503 | 10680 | 600857 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | SDHA CL E G H | 6389 | 3208 | | | | ORPHA | 0 | | 2503 | 10680 | 600857 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | SDHA CL E G H | 6389 | 3208 | | | | ORPHA | 0 | | 2503 | 10680 | 600857 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | SDHA CL E G H | 6389 | 3208 | | | | ORPHA | 0 | | 2503 | 10680 | 600857 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | SDHAF1 CL E G H | 644096 | 3208 | | | | ORPHA | 0 | | 77 | 33867 | 612848 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | SDHAF1 CL E G H | 644096 | 3208 | | | | ORPHA | 0 | | 77 | 33867 | 612848 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | SDHAF1 CL E G H | 644096 | 3208 | | | | ORPHA | 0 | | 77 | 33867 | 612848 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | SDHAF1 CL E G H | 644096 | 3208 | | | | ORPHA | 0 | | 77 | 33867 | 612848 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | SDHB CL E G H | 6390 | 3208 | | | | ORPHA | 0 | | 1249 | 10681 | 185470 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | SDHB CL E G H | 6390 | 3208 | | | | ORPHA | 0 | | 1249 | 10681 | 185470 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | SDHB CL E G H | 6390 | 3208 | | | | ORPHA | 0 | | 1249 | 10681 | 185470 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | SDHB CL E G H | 6390 | 3208 | | | | ORPHA | 0 | | 1249 | 10681 | 185470 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | SDHD CL E G H | 6392 | 3208 | | | | ORPHA | 0 | | 686 | 10683 | 602690 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | SDHD CL E G H | 6392 | 3208 | | | | ORPHA | 0 | | 686 | 10683 | 602690 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | SDHD CL E G H | 6392 | 3208 | | | | ORPHA | 0 | | 686 | 10683 | 602690 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | SDHD CL E G H | 6392 | 3208 | | | | ORPHA | 0 | | 686 | 10683 | 602690 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | SNCA CL E G H | 6622 | 411602 | | | | ORPHA | 0 | | 193 | 11138 | 163890 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | SNCA CL E G H | 6622 | 411602 | | | | ORPHA | 0 | | 193 | 11138 | 163890 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 0 | | 193 | 11138 | 163890 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 0 | | 193 | 11138 | 163890 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 0 | | 193 | 11138 | 163890 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | SNCA CL E G H | 6622 | 411602 | | | | ORPHA | 0 | | 193 | 11138 | 163890 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | SNCA CL E G H | 6622 | 411602 | | | | ORPHA | 0 | | 193 | 11138 | 163890 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 0 | | 193 | 11138 | 163890 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | TUBB4A CL E G H | 10382 | 98805 | | | | ORPHA | 0 | | 272 | 20774 | 602662 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | TUBB4A CL E G H | 10382 | 98805 | | | | ORPHA | 0 | | 272 | 20774 | 602662 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | TUBB4A CL E G H | 10382 | 98805 | | | | ORPHA | 0 | | 272 | 20774 | 602662 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | TUBB4A CL E G H | 10382 | 98805 | | | | ORPHA | 0 | | 272 | 20774 | 602662 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 0 | | 895 | 3148 | 131222 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 0 | | 895 | 3148 | 131222 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 0 | | 895 | 3148 | 131222 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 0 | | 895 | 3148 | 131222 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | VPS13A CL E G H | 23230 | 200150 | Choreoacanthocytosis | 200150 | C0393576 | OMIM | 0 | | 2362 | 1908 | 605978 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | VPS13A CL E G H | 23230 | 200150 | Choreoacanthocytosis | 200150 | C0393576 | OMIM | 0 | | 2362 | 1908 | 605978 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | VPS13A CL E G H | 23230 | 200150 | Choreoacanthocytosis | 200150 | C0393576 | OMIM | 0 | | 2362 | 1908 | 605978 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | VPS13A CL E G H | 23230 | 200150 | Choreoacanthocytosis | 200150 | C0393576 | OMIM | 0 | | 2362 | 1908 | 605978 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | VPS35 CL E G H | 55737 | 411602 | | | | ORPHA | 0 | | 228 | 13487 | 601501 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | VPS35 CL E G H | 55737 | 411602 | | | | ORPHA | 0 | | 228 | 13487 | 601501 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | VPS35 CL E G H | 55737 | 411602 | | | | ORPHA | 0 | | 228 | 13487 | 601501 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | VPS35 CL E G H | 55737 | 411602 | | | | ORPHA | 0 | | 228 | 13487 | 601501 |
HP:0000726 | HP:0002439 | Frontolimbic dementia | 1 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 0 | | 1634 | 12762 | 606201 |
HP:0000726 | HP:0007123 | Subcortical dementia | 1 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 0 | | 1634 | 12762 | 606201 |
HP:0000726 | HP:0000727 | Frontal lobe dementia | 1 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 0 | | 1634 | 12762 | 606201 |
HP:0000726 | HP:0002145 | Frontotemporal dementia | 1 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 0 | | 1634 | 12762 | 606201 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | ALDH18A1 CL E G H | 5832 | 447753 | | | | ORPHA | 0 | | 586 | 9722 | 138250 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | ALDH18A1 CL E G H | 5832 | 447757 | | | | ORPHA | 0 | | 586 | 9722 | 138250 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | ATN1 CL E G H | 1822 | 125370 | Dentatorubral pallidoluysian atrophy | 125370 | C0751781 | OMIM | 0 | | 213 | 3033 | 607462 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | ATP13A2 CL E G H | 23400 | 513436 | | | | ORPHA | 0 | | 974 | 30213 | 610513 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | ATP13A2 CL E G H | 23400 | 617225 | Spastic paraplegia 78, autosomal recessive | 617225 | C4310662 | OMIM | 0 | | 974 | 30213 | 610513 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 0 | | 71 | 24212 | 611507 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | CSTB CL E G H | 1476 | 308 | | | | ORPHA | 0 | | 261 | 2482 | 601145 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | DCTN1 CL E G H | 1639 | 178509 | | | | ORPHA | 0 | | 1084 | 2711 | 601143 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | DGUOK CL E G H | 1716 | 329314 | | | | ORPHA | 0 | | 239 | 2858 | 601465 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | DNAJC13 CL E G H | 23317 | 411602 | | | | ORPHA | 0 | | 237 | 30343 | 614334 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | EIF4G1 CL E G H | 1981 | 411602 | | | | ORPHA | 0 | | 147 | 3296 | 600495 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | ERCC4 CL E G H | 2072 | 278760 | Xeroderma pigmentosum, group F | 278760 | C0268140 | OMIM | 0 | | 726 | 3436 | 133520 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 0 | | 243 | 13586 | 605648 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | FTL CL E G H | 2512 | 157846 | | | | ORPHA | 0 | | 185 | 3999 | 134790 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | GBA CL E G H | 2629 | 411602 | | | | ORPHA | 0 | | | 4177 | 606463 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | GBA2 CL E G H | 57704 | 320391 | | | | ORPHA | 0 | | 355 | 18986 | 609471 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | GBA2 CL E G H | 57704 | 614409 | Spastic paraplegia 46, autosomal recessive | 614409 | C2828721 | OMIM | 0 | | 355 | 18986 | 609471 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | GBE1 CL E G H | 2632 | 206583 | | | | ORPHA | 0 | | 784 | 4180 | 607839 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | GIGYF2 CL E G H | 26058 | 411602 | | | | ORPHA | 0 | | 338 | 11960 | 612003 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | GPIHBP1 CL E G H | 338328 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 0 | | 187 | 24945 | 612757 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | JPH3 CL E G H | 57338 | 98934 | | | | ORPHA | 0 | | 176 | 14203 | 605268 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | KCTD7 CL E G H | 154881 | 263516 | | | | ORPHA | 0 | | 427 | 21957 | 611725 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | LMF1 CL E G H | 64788 | 444490 | Familial chylomicronemia syndrome | | CN231410 | ORPHA | 0 | | 554 | 14154 | 611761 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | LRRK2 CL E G H | 120892 | 411602 | | | | ORPHA | 0 | | 2948 | 18618 | 609007 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | MATR3 CL E G H | 9782 | 600 | | | | ORPHA | 0 | | 450 | 6912 | 164015 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | MATR3 CL E G H | 9782 | 606070 | Amyotrophic lateral sclerosis 21 | 606070 | C3807521 | OMIM | 0 | | 450 | 6912 | 164015 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | MT-TE CL E G H | 4556 | 2596 | Hantavirosis | | | ORPHA | 0 | | | 7479 | 590025 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | PDGFRB CL E G H | 5159 | 615007 | Basal ganglia calcification, idiopathic, 4 | 615007 | C3554321 | OMIM | 0 | | 531 | 8804 | 173410 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | PNPLA6 CL E G H | 10908 | 1173 | CDG syndrome type 3 | | | ORPHA | 0 | | 1216 | 16268 | 603197 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 0 | | 2324 | 9179 | 174763 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | PPP2R2B CL E G H | 5521 | 98762 | | | | ORPHA | 0 | | 71 | 9305 | 604325 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | PRICKLE1 CL E G H | 144165 | 308 | | | | ORPHA | 0 | | 570 | 17019 | 608500 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | RAB39B CL E G H | 116442 | 311510 | Parkinsonism, early onset with mental retardation | 311510 | C0796195 | OMIM | 0 | | 320 | 16499 | 300774 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | RNF216 CL E G H | 54476 | 1173 | CDG syndrome type 3 | | | ORPHA | 0 | | 297 | 21698 | 609948 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 0 | | 354 | 17296 | 604712 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | SCARB2 CL E G H | 950 | 308 | | | | ORPHA | 0 | | 474 | 1665 | 602257 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | SDHA CL E G H | 6389 | 3208 | | | | ORPHA | 0 | | 2503 | 10680 | 600857 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | SDHAF1 CL E G H | 644096 | 3208 | | | | ORPHA | 0 | | 77 | 33867 | 612848 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | SDHB CL E G H | 6390 | 3208 | | | | ORPHA | 0 | | 1249 | 10681 | 185470 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | SDHD CL E G H | 6392 | 3208 | | | | ORPHA | 0 | | 686 | 10683 | 602690 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | SNCA CL E G H | 6622 | 411602 | | | | ORPHA | 0 | | 193 | 11138 | 163890 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 0 | | 193 | 11138 | 163890 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | TUBB4A CL E G H | 10382 | 98805 | | | | ORPHA | 0 | | 272 | 20774 | 602662 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | TYMP CL E G H | 1890 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 0 | | 895 | 3148 | 131222 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | VPS13A CL E G H | 23230 | 200150 | Choreoacanthocytosis | 200150 | C0393576 | OMIM | 0 | | 2362 | 1908 | 605978 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | VPS35 CL E G H | 55737 | 411602 | | | | ORPHA | 0 | | 228 | 13487 | 601501 |
HP:0000726 | HP:0030219 | Semantic dementia | 2 | WFS1 CL E G H | 7466 | 3463 | | | | ORPHA | 0 | | 1634 | 12762 | 606201 |