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:0001268 | HP:0001268 | Mental deterioration | 0 | ACTB CL E G H | 60 | 79107 | | | | ORPHA | 1 | | 512 | 132 | 102630 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | ADA2 CL E G H | 51816 | 182410 | Idiopathic livedo reticularis with systemic involvement | 182410 | C0282492 | OMIM | 1 | | 533 | 1839 | 607575 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | AP5Z1 CL E G H | 9907 | 613647 | Spastic paraplegia 48, autosomal recessive | 613647 | C3150901 | OMIM | 1 | | 1021 | 22197 | 613653 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | ARSA CL E G H | 410 | 250100 | Metachromatic leukodystrophy | 250100 | C0023522 | OMIM | 1 | | 1140 | 713 | 607574 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | ATP1A2 CL E G H | 477 | 104290 | Alternating hemiplegia of childhood 1 | 104290 | C3549447 | OMIM | 1 | | 1117 | 800 | 182340 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | ATP1A3 CL E G H | 478 | 614820 | Alternating hemiplegia of childhood 2 | 614820 | C3553788 | OMIM | 1 | | 993 | 801 | 182350 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 98 | 10560 | 607640 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 307 | 25443 | 614297 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | CHD2 CL E G H | 1106 | 1942 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | CLN8 CL E G H | 2055 | 1947 | | | | ORPHA | 1 | | 640 | 2079 | 607837 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | CLN8 CL E G H | 2055 | 610003 | Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | 610003 | C1864923 | OMIM | 1 | | 640 | 2079 | 607837 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 281 | 29932 | 609855 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 1 | | 206 | 2309 | 605032 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | CSTB CL E G H | 1476 | 254800 | Unverricht-Lundborg syndrome | 254800 | C0751785 | OMIM | 1 | | 261 | 2482 | 601145 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | CTSD CL E G H | 1509 | 610127 | Ceroid lipofuscinosis neuronal 10 | 610127 | C1864669 | OMIM | 1 | | 669 | 2529 | 116840 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | DCAF17 CL E G H | 80067 | 3464 | | | | ORPHA | 1 | | 366 | 25784 | 612515 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 1572 | 3434 | 126340 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 1645 | 3438 | 609413 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | FA2H CL E G H | 79152 | 171629 | | | | ORPHA | 1 | | 381 | 21197 | 611026 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | FA2H CL E G H | 79152 | 612319 | Spastic paraplegia 35 | 612319 | C3668943 | OMIM | 1 | | 381 | 21197 | 611026 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | GNAS CL E G H | 2778 | 219080 | Cushing's syndrome | 219080 | C1857451 | OMIM | 1 | | 644 | 4392 | 139320 |
HP:0001268 | HP:0001268 | Mental deterioration | 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:0001268 | HP:0001268 | Mental deterioration | 0 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | MFSD8 CL E G H | 256471 | 610951 | Ceroid lipofuscinosis neuronal 7 | 610951 | C1838571 | OMIM | 1 | | 869 | 28486 | 611124 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | NBN CL E G H | 4683 | 647 | | | | ORPHA | 1 | | 3250 | 7652 | 602667 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 1 | | 281 | 7989 | 164790 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | PDE10A CL E G H | 10846 | 616922 | Striatal degeneration, autosomal dominant 2 | 616922 | C4310791 | OMIM | 1 | | 222 | 8772 | 610652 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | PDE11A CL E G H | 50940 | 610475 | Pigmented nodular adrenocortical disease, primary, 2 | 610475 | C1864851 | OMIM | 1 | | 203 | 8773 | 604961 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | PDGFB CL E G H | 5155 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 151 | 8800 | 190040 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | PDGFRB CL E G H | 5159 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 531 | 8804 | 173410 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | PLA2G6 CL E G H | 8398 | 610217 | Neurodegeneration with brain iron accumulation 2b | 610217 | C1857747 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | PRKAR1A CL E G H | 5573 | 610489 | Pigmented nodular adrenocortical disease, primary, 1 | 610489 | C1864846 | OMIM | 1 | | 1131 | 9388 | 188830 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | PRKCG CL E G H | 5582 | 605361 | Spinocerebellar ataxia 14 | 605361 | C1854369 | OMIM | 1 | | 323 | 9402 | 176980 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | PSAP CL E G H | 5660 | 249900 | Sphingolipid activator protein 1 deficiency | 249900 | C0268262 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | SCN1A CL E G H | 6323 | 607208 | Severe myoclonic epilepsy in infancy | 607208 | C0751122 | OMIM | 1 | | 4030 | 10585 | 182389 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | SGPL1 CL E G H | 8879 | 617575 | Nephrotic syndrome type 14 | 617575 | C4539778 | OMIM | 1 | | 218 | 10817 | 603729 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | SLC20A2 CL E G H | 6575 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 337 | 10947 | 158378 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | SLC6A1 CL E G H | 6529 | 1942 | | | | ORPHA | 1 | | 809 | 11042 | 137165 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | SNORD118 CL E G H | 727676 | 614561 | Leukoencephalopathy, brain calcifications, and cysts | 614561 | C3281200 | OMIM | 1 | | 189 | 32952 | 616663 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | SPG11 CL E G H | 80208 | 2822 | Hyperinsulinism, focal | | | ORPHA | 1 | | 2625 | 11226 | 610844 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | SPG11 CL E G H | 80208 | 604360 | Spastic paraplegia 11, autosomal recessive | 604360 | C1858479 | OMIM | 1 | | 2625 | 11226 | 610844 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | SQSTM1 CL E G H | 8878 | 617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 617145 | C4310693 | OMIM | 1 | | 677 | 11280 | 601530 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | TBC1D24 CL E G H | 57465 | 352582 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | TBP CL E G H | 6908 | 98759 | | | | ORPHA | 1 | | 131 | 11588 | 600075 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | TIMM8A CL E G H | 1678 | 304700 | Mohr-Tranebjaerg syndrome | 304700 | C0796074 | OMIM | 1 | | 227 | 11817 | 300356 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | TREX1 CL E G H | 11277 | 247691 | | | | ORPHA | 1 | | 418 | 12269 | 606609 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | UBTF CL E G H | 7343 | 617672 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY | 617672 | C4540086 | OMIM | 1 | | 84 | 12511 | 600673 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | XPA CL E G H | 7507 | 278700 | Xeroderma pigmentosum, type 1 | 278700 | C0268135 | OMIM | 1 | | 321 | 12814 | 611153 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | ACTB CL E G H | 60 | 79107 | | | | ORPHA | 1 | | 512 | 132 | 102630 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | ACTB CL E G H | 60 | 79107 | | | | ORPHA | 1 | | 512 | 132 | 102630 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | ACTB CL E G H | 60 | 79107 | | | | ORPHA | 1 | | 512 | 132 | 102630 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | ACTB CL E G H | 60 | 79107 | | | | ORPHA | 1 | | 512 | 132 | 102630 |
HP:0001268 | HP:0000726 | Dementia | 1 | ACTB CL E G H | 60 | 79107 | | | | ORPHA | 1 | | 512 | 132 | 102630 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | ADA2 CL E G H | 51816 | 182410 | Idiopathic livedo reticularis with systemic involvement | 182410 | C0282492 | OMIM | 1 | | 533 | 1839 | 607575 |
HP:0001268 | HP:0000726 | Dementia | 1 | ADA2 CL E G H | 51816 | 182410 | Idiopathic livedo reticularis with systemic involvement | 182410 | C0282492 | OMIM | 1 | | 533 | 1839 | 607575 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | ADA2 CL E G H | 51816 | 182410 | Idiopathic livedo reticularis with systemic involvement | 182410 | C0282492 | OMIM | 1 | | 533 | 1839 | 607575 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | ADA2 CL E G H | 51816 | 182410 | Idiopathic livedo reticularis with systemic involvement | 182410 | C0282492 | OMIM | 1 | | 533 | 1839 | 607575 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | ADA2 CL E G H | 51816 | 182410 | Idiopathic livedo reticularis with systemic involvement | 182410 | C0282492 | OMIM | 1 | | 533 | 1839 | 607575 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | AP5Z1 CL E G H | 9907 | 613647 | Spastic paraplegia 48, autosomal recessive | 613647 | C3150901 | OMIM | 1 | | 1021 | 22197 | 613653 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | AP5Z1 CL E G H | 9907 | 613647 | Spastic paraplegia 48, autosomal recessive | 613647 | C3150901 | OMIM | 1 | | 1021 | 22197 | 613653 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | AP5Z1 CL E G H | 9907 | 613647 | Spastic paraplegia 48, autosomal recessive | 613647 | C3150901 | OMIM | 1 | | 1021 | 22197 | 613653 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | AP5Z1 CL E G H | 9907 | 613647 | Spastic paraplegia 48, autosomal recessive | 613647 | C3150901 | OMIM | 1 | | 1021 | 22197 | 613653 |
HP:0001268 | HP:0000726 | Dementia | 1 | AP5Z1 CL E G H | 9907 | 613647 | Spastic paraplegia 48, autosomal recessive | 613647 | C3150901 | OMIM | 1 | | 1021 | 22197 | 613653 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | ARSA CL E G H | 410 | 250100 | Metachromatic leukodystrophy | 250100 | C0023522 | OMIM | 1 | | 1140 | 713 | 607574 |
HP:0001268 | HP:0000726 | Dementia | 1 | ARSA CL E G H | 410 | 250100 | Metachromatic leukodystrophy | 250100 | C0023522 | OMIM | 1 | | 1140 | 713 | 607574 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | ARSA CL E G H | 410 | 250100 | Metachromatic leukodystrophy | 250100 | C0023522 | OMIM | 1 | | 1140 | 713 | 607574 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | ARSA CL E G H | 410 | 250100 | Metachromatic leukodystrophy | 250100 | C0023522 | OMIM | 1 | | 1140 | 713 | 607574 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | ARSA CL E G H | 410 | 250100 | Metachromatic leukodystrophy | 250100 | C0023522 | OMIM | 1 | | 1140 | 713 | 607574 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | ATP1A2 CL E G H | 477 | 104290 | Alternating hemiplegia of childhood 1 | 104290 | C3549447 | OMIM | 1 | | 1117 | 800 | 182340 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | ATP1A2 CL E G H | 477 | 104290 | Alternating hemiplegia of childhood 1 | 104290 | C3549447 | OMIM | 1 | | 1117 | 800 | 182340 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | ATP1A2 CL E G H | 477 | 104290 | Alternating hemiplegia of childhood 1 | 104290 | C3549447 | OMIM | 1 | | 1117 | 800 | 182340 |
HP:0001268 | HP:0000726 | Dementia | 1 | ATP1A2 CL E G H | 477 | 104290 | Alternating hemiplegia of childhood 1 | 104290 | C3549447 | OMIM | 1 | | 1117 | 800 | 182340 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | ATP1A2 CL E G H | 477 | 104290 | Alternating hemiplegia of childhood 1 | 104290 | C3549447 | OMIM | 1 | | 1117 | 800 | 182340 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | ATP1A3 CL E G H | 478 | 614820 | Alternating hemiplegia of childhood 2 | 614820 | C3553788 | OMIM | 1 | | 993 | 801 | 182350 |
HP:0001268 | HP:0000726 | Dementia | 1 | ATP1A3 CL E G H | 478 | 614820 | Alternating hemiplegia of childhood 2 | 614820 | C3553788 | OMIM | 1 | | 993 | 801 | 182350 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | ATP1A3 CL E G H | 478 | 614820 | Alternating hemiplegia of childhood 2 | 614820 | C3553788 | OMIM | 1 | | 993 | 801 | 182350 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | ATP1A3 CL E G H | 478 | 614820 | Alternating hemiplegia of childhood 2 | 614820 | C3553788 | OMIM | 1 | | 993 | 801 | 182350 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | ATP1A3 CL E G H | 478 | 614820 | Alternating hemiplegia of childhood 2 | 614820 | C3553788 | OMIM | 1 | | 993 | 801 | 182350 |
HP:0001268 | HP:0000726 | Dementia | 1 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 98 | 10560 | 607640 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 98 | 10560 | 607640 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 98 | 10560 | 607640 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 98 | 10560 | 607640 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 98 | 10560 | 607640 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001268 | HP:0000726 | Dementia | 1 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001268 | HP:0000726 | Dementia | 1 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 307 | 25443 | 614297 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 307 | 25443 | 614297 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 307 | 25443 | 614297 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 307 | 25443 | 614297 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 307 | 25443 | 614297 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001268 | HP:0000726 | Dementia | 1 | CHD2 CL E G H | 1106 | 1942 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | CHD2 CL E G H | 1106 | 1942 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | CHD2 CL E G H | 1106 | 1942 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | CHD2 CL E G H | 1106 | 1942 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001268 | HP:0000726 | Dementia | 1 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | CHD2 CL E G H | 1106 | 1942 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | CLN8 CL E G H | 2055 | 1947 | | | | ORPHA | 1 | | 640 | 2079 | 607837 |
HP:0001268 | HP:0000726 | Dementia | 1 | CLN8 CL E G H | 2055 | 1947 | | | | ORPHA | 1 | | 640 | 2079 | 607837 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | CLN8 CL E G H | 2055 | 1947 | | | | ORPHA | 1 | | 640 | 2079 | 607837 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | CLN8 CL E G H | 2055 | 1947 | | | | ORPHA | 1 | | 640 | 2079 | 607837 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | CLN8 CL E G H | 2055 | 1947 | | | | ORPHA | 1 | | 640 | 2079 | 607837 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | CLN8 CL E G H | 2055 | 610003 | Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | 610003 | C1864923 | OMIM | 1 | | 640 | 2079 | 607837 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | CLN8 CL E G H | 2055 | 610003 | Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | 610003 | C1864923 | OMIM | 1 | | 640 | 2079 | 607837 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | CLN8 CL E G H | 2055 | 610003 | Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | 610003 | C1864923 | OMIM | 1 | | 640 | 2079 | 607837 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | CLN8 CL E G H | 2055 | 610003 | Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | 610003 | C1864923 | OMIM | 1 | | 640 | 2079 | 607837 |
HP:0001268 | HP:0000726 | Dementia | 1 | CLN8 CL E G H | 2055 | 610003 | Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | 610003 | C1864923 | OMIM | 1 | | 640 | 2079 | 607837 |
HP:0001268 | HP:0000726 | Dementia | 1 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 281 | 29932 | 609855 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 281 | 29932 | 609855 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 281 | 29932 | 609855 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 281 | 29932 | 609855 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 281 | 29932 | 609855 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 1 | | 206 | 2309 | 605032 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 1 | | 206 | 2309 | 605032 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 1 | | 206 | 2309 | 605032 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 1 | | 206 | 2309 | 605032 |
HP:0001268 | HP:0000726 | Dementia | 1 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 1 | | 206 | 2309 | 605032 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | CSTB CL E G H | 1476 | 254800 | Unverricht-Lundborg syndrome | 254800 | C0751785 | OMIM | 1 | | 261 | 2482 | 601145 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | CSTB CL E G H | 1476 | 254800 | Unverricht-Lundborg syndrome | 254800 | C0751785 | OMIM | 1 | | 261 | 2482 | 601145 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | CSTB CL E G H | 1476 | 254800 | Unverricht-Lundborg syndrome | 254800 | C0751785 | OMIM | 1 | | 261 | 2482 | 601145 |
HP:0001268 | HP:0000726 | Dementia | 1 | CSTB CL E G H | 1476 | 254800 | Unverricht-Lundborg syndrome | 254800 | C0751785 | OMIM | 1 | | 261 | 2482 | 601145 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | CSTB CL E G H | 1476 | 254800 | Unverricht-Lundborg syndrome | 254800 | C0751785 | OMIM | 1 | | 261 | 2482 | 601145 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0001268 | HP:0000726 | Dementia | 1 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | CTSD CL E G H | 1509 | 610127 | Ceroid lipofuscinosis neuronal 10 | 610127 | C1864669 | OMIM | 1 | | 669 | 2529 | 116840 |
HP:0001268 | HP:0000726 | Dementia | 1 | CTSD CL E G H | 1509 | 610127 | Ceroid lipofuscinosis neuronal 10 | 610127 | C1864669 | OMIM | 1 | | 669 | 2529 | 116840 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | CTSD CL E G H | 1509 | 610127 | Ceroid lipofuscinosis neuronal 10 | 610127 | C1864669 | OMIM | 1 | | 669 | 2529 | 116840 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | CTSD CL E G H | 1509 | 610127 | Ceroid lipofuscinosis neuronal 10 | 610127 | C1864669 | OMIM | 1 | | 669 | 2529 | 116840 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | CTSD CL E G H | 1509 | 610127 | Ceroid lipofuscinosis neuronal 10 | 610127 | C1864669 | OMIM | 1 | | 669 | 2529 | 116840 |
HP:0001268 | HP:0000726 | Dementia | 1 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | DCAF17 CL E G H | 80067 | 3464 | | | | ORPHA | 1 | | 366 | 25784 | 612515 |
HP:0001268 | HP:0000726 | Dementia | 1 | DCAF17 CL E G H | 80067 | 3464 | | | | ORPHA | 1 | | 366 | 25784 | 612515 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | DCAF17 CL E G H | 80067 | 3464 | | | | ORPHA | 1 | | 366 | 25784 | 612515 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | DCAF17 CL E G H | 80067 | 3464 | | | | ORPHA | 1 | | 366 | 25784 | 612515 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | DCAF17 CL E G H | 80067 | 3464 | | | | ORPHA | 1 | | 366 | 25784 | 612515 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001268 | HP:0000726 | Dementia | 1 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 1572 | 3434 | 126340 |
HP:0001268 | HP:0000726 | Dementia | 1 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 1572 | 3434 | 126340 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 1572 | 3434 | 126340 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 1572 | 3434 | 126340 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 1572 | 3434 | 126340 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 1645 | 3438 | 609413 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 1645 | 3438 | 609413 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 1645 | 3438 | 609413 |
HP:0001268 | HP:0000726 | Dementia | 1 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 1645 | 3438 | 609413 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 1645 | 3438 | 609413 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | FA2H CL E G H | 79152 | 171629 | | | | ORPHA | 1 | | 381 | 21197 | 611026 |
HP:0001268 | HP:0000726 | Dementia | 1 | FA2H CL E G H | 79152 | 171629 | | | | ORPHA | 1 | | 381 | 21197 | 611026 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | FA2H CL E G H | 79152 | 171629 | | | | ORPHA | 1 | | 381 | 21197 | 611026 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | FA2H CL E G H | 79152 | 171629 | | | | ORPHA | 1 | | 381 | 21197 | 611026 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | FA2H CL E G H | 79152 | 171629 | | | | ORPHA | 1 | | 381 | 21197 | 611026 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | FA2H CL E G H | 79152 | 612319 | Spastic paraplegia 35 | 612319 | C3668943 | OMIM | 1 | | 381 | 21197 | 611026 |
HP:0001268 | HP:0000726 | Dementia | 1 | FA2H CL E G H | 79152 | 612319 | Spastic paraplegia 35 | 612319 | C3668943 | OMIM | 1 | | 381 | 21197 | 611026 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | FA2H CL E G H | 79152 | 612319 | Spastic paraplegia 35 | 612319 | C3668943 | OMIM | 1 | | 381 | 21197 | 611026 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | FA2H CL E G H | 79152 | 612319 | Spastic paraplegia 35 | 612319 | C3668943 | OMIM | 1 | | 381 | 21197 | 611026 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | FA2H CL E G H | 79152 | 612319 | Spastic paraplegia 35 | 612319 | C3668943 | OMIM | 1 | | 381 | 21197 | 611026 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001268 | HP:0000726 | Dementia | 1 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | GNAS CL E G H | 2778 | 219080 | Cushing's syndrome | 219080 | C1857451 | OMIM | 1 | | 644 | 4392 | 139320 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | GNAS CL E G H | 2778 | 219080 | Cushing's syndrome | 219080 | C1857451 | OMIM | 1 | | 644 | 4392 | 139320 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | GNAS CL E G H | 2778 | 219080 | Cushing's syndrome | 219080 | C1857451 | OMIM | 1 | | 644 | 4392 | 139320 |
HP:0001268 | HP:0000726 | Dementia | 1 | GNAS CL E G H | 2778 | 219080 | Cushing's syndrome | 219080 | C1857451 | OMIM | 1 | | 644 | 4392 | 139320 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | GNAS CL E G H | 2778 | 219080 | Cushing's syndrome | 219080 | C1857451 | OMIM | 1 | | 644 | 4392 | 139320 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 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:0001268 | HP:0002361 | Psychomotor deterioration | 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:0001268 | HP:0002333 | Motor deterioration | 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:0001268 | HP:0000726 | 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:0001268 | HP:0007086 | Social and occupational deterioration | 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:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001268 | HP:0000726 | Dementia | 1 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | MFSD8 CL E G H | 256471 | 610951 | Ceroid lipofuscinosis neuronal 7 | 610951 | C1838571 | OMIM | 1 | | 869 | 28486 | 611124 |
HP:0001268 | HP:0000726 | Dementia | 1 | MFSD8 CL E G H | 256471 | 610951 | Ceroid lipofuscinosis neuronal 7 | 610951 | C1838571 | OMIM | 1 | | 869 | 28486 | 611124 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | MFSD8 CL E G H | 256471 | 610951 | Ceroid lipofuscinosis neuronal 7 | 610951 | C1838571 | OMIM | 1 | | 869 | 28486 | 611124 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | MFSD8 CL E G H | 256471 | 610951 | Ceroid lipofuscinosis neuronal 7 | 610951 | C1838571 | OMIM | 1 | | 869 | 28486 | 611124 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | MFSD8 CL E G H | 256471 | 610951 | Ceroid lipofuscinosis neuronal 7 | 610951 | C1838571 | OMIM | 1 | | 869 | 28486 | 611124 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0001268 | HP:0000726 | Dementia | 1 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | NBN CL E G H | 4683 | 647 | | | | ORPHA | 1 | | 3250 | 7652 | 602667 |
HP:0001268 | HP:0000726 | Dementia | 1 | NBN CL E G H | 4683 | 647 | | | | ORPHA | 1 | | 3250 | 7652 | 602667 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | NBN CL E G H | 4683 | 647 | | | | ORPHA | 1 | | 3250 | 7652 | 602667 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | NBN CL E G H | 4683 | 647 | | | | ORPHA | 1 | | 3250 | 7652 | 602667 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | NBN CL E G H | 4683 | 647 | | | | ORPHA | 1 | | 3250 | 7652 | 602667 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 1 | | 281 | 7989 | 164790 |
HP:0001268 | HP:0000726 | Dementia | 1 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 1 | | 281 | 7989 | 164790 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 1 | | 281 | 7989 | 164790 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 1 | | 281 | 7989 | 164790 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 1 | | 281 | 7989 | 164790 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | PDE10A CL E G H | 10846 | 616922 | Striatal degeneration, autosomal dominant 2 | 616922 | C4310791 | OMIM | 1 | | 222 | 8772 | 610652 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | PDE10A CL E G H | 10846 | 616922 | Striatal degeneration, autosomal dominant 2 | 616922 | C4310791 | OMIM | 1 | | 222 | 8772 | 610652 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | PDE10A CL E G H | 10846 | 616922 | Striatal degeneration, autosomal dominant 2 | 616922 | C4310791 | OMIM | 1 | | 222 | 8772 | 610652 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | PDE10A CL E G H | 10846 | 616922 | Striatal degeneration, autosomal dominant 2 | 616922 | C4310791 | OMIM | 1 | | 222 | 8772 | 610652 |
HP:0001268 | HP:0000726 | Dementia | 1 | PDE10A CL E G H | 10846 | 616922 | Striatal degeneration, autosomal dominant 2 | 616922 | C4310791 | OMIM | 1 | | 222 | 8772 | 610652 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | PDE11A CL E G H | 50940 | 610475 | Pigmented nodular adrenocortical disease, primary, 2 | 610475 | C1864851 | OMIM | 1 | | 203 | 8773 | 604961 |
HP:0001268 | HP:0000726 | Dementia | 1 | PDE11A CL E G H | 50940 | 610475 | Pigmented nodular adrenocortical disease, primary, 2 | 610475 | C1864851 | OMIM | 1 | | 203 | 8773 | 604961 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | PDE11A CL E G H | 50940 | 610475 | Pigmented nodular adrenocortical disease, primary, 2 | 610475 | C1864851 | OMIM | 1 | | 203 | 8773 | 604961 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | PDE11A CL E G H | 50940 | 610475 | Pigmented nodular adrenocortical disease, primary, 2 | 610475 | C1864851 | OMIM | 1 | | 203 | 8773 | 604961 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | PDE11A CL E G H | 50940 | 610475 | Pigmented nodular adrenocortical disease, primary, 2 | 610475 | C1864851 | OMIM | 1 | | 203 | 8773 | 604961 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | PDGFB CL E G H | 5155 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 151 | 8800 | 190040 |
HP:0001268 | HP:0000726 | Dementia | 1 | PDGFB CL E G H | 5155 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 151 | 8800 | 190040 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | PDGFB CL E G H | 5155 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 151 | 8800 | 190040 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | PDGFB CL E G H | 5155 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 151 | 8800 | 190040 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | PDGFB CL E G H | 5155 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 151 | 8800 | 190040 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | PDGFRB CL E G H | 5159 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 531 | 8804 | 173410 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | PDGFRB CL E G H | 5159 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 531 | 8804 | 173410 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | PDGFRB CL E G H | 5159 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 531 | 8804 | 173410 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | PDGFRB CL E G H | 5159 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 531 | 8804 | 173410 |
HP:0001268 | HP:0000726 | Dementia | 1 | PDGFRB CL E G H | 5159 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 531 | 8804 | 173410 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | PLA2G6 CL E G H | 8398 | 610217 | Neurodegeneration with brain iron accumulation 2b | 610217 | C1857747 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | PLA2G6 CL E G H | 8398 | 610217 | Neurodegeneration with brain iron accumulation 2b | 610217 | C1857747 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | PLA2G6 CL E G H | 8398 | 610217 | Neurodegeneration with brain iron accumulation 2b | 610217 | C1857747 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0001268 | HP:0000726 | Dementia | 1 | PLA2G6 CL E G H | 8398 | 610217 | Neurodegeneration with brain iron accumulation 2b | 610217 | C1857747 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | PLA2G6 CL E G H | 8398 | 610217 | Neurodegeneration with brain iron accumulation 2b | 610217 | C1857747 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | PRKAR1A CL E G H | 5573 | 610489 | Pigmented nodular adrenocortical disease, primary, 1 | 610489 | C1864846 | OMIM | 1 | | 1131 | 9388 | 188830 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | PRKAR1A CL E G H | 5573 | 610489 | Pigmented nodular adrenocortical disease, primary, 1 | 610489 | C1864846 | OMIM | 1 | | 1131 | 9388 | 188830 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | PRKAR1A CL E G H | 5573 | 610489 | Pigmented nodular adrenocortical disease, primary, 1 | 610489 | C1864846 | OMIM | 1 | | 1131 | 9388 | 188830 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | PRKAR1A CL E G H | 5573 | 610489 | Pigmented nodular adrenocortical disease, primary, 1 | 610489 | C1864846 | OMIM | 1 | | 1131 | 9388 | 188830 |
HP:0001268 | HP:0000726 | Dementia | 1 | PRKAR1A CL E G H | 5573 | 610489 | Pigmented nodular adrenocortical disease, primary, 1 | 610489 | C1864846 | OMIM | 1 | | 1131 | 9388 | 188830 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | PRKCG CL E G H | 5582 | 605361 | Spinocerebellar ataxia 14 | 605361 | C1854369 | OMIM | 1 | | 323 | 9402 | 176980 |
HP:0001268 | HP:0000726 | Dementia | 1 | PRKCG CL E G H | 5582 | 605361 | Spinocerebellar ataxia 14 | 605361 | C1854369 | OMIM | 1 | | 323 | 9402 | 176980 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | PRKCG CL E G H | 5582 | 605361 | Spinocerebellar ataxia 14 | 605361 | C1854369 | OMIM | 1 | | 323 | 9402 | 176980 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | PRKCG CL E G H | 5582 | 605361 | Spinocerebellar ataxia 14 | 605361 | C1854369 | OMIM | 1 | | 323 | 9402 | 176980 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | PRKCG CL E G H | 5582 | 605361 | Spinocerebellar ataxia 14 | 605361 | C1854369 | OMIM | 1 | | 323 | 9402 | 176980 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | PSAP CL E G H | 5660 | 249900 | Sphingolipid activator protein 1 deficiency | 249900 | C0268262 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | PSAP CL E G H | 5660 | 249900 | Sphingolipid activator protein 1 deficiency | 249900 | C0268262 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | PSAP CL E G H | 5660 | 249900 | Sphingolipid activator protein 1 deficiency | 249900 | C0268262 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | PSAP CL E G H | 5660 | 249900 | Sphingolipid activator protein 1 deficiency | 249900 | C0268262 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001268 | HP:0000726 | Dementia | 1 | PSAP CL E G H | 5660 | 249900 | Sphingolipid activator protein 1 deficiency | 249900 | C0268262 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001268 | HP:0000726 | Dementia | 1 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | SCN1A CL E G H | 6323 | 607208 | Severe myoclonic epilepsy in infancy | 607208 | C0751122 | OMIM | 1 | | 4030 | 10585 | 182389 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | SCN1A CL E G H | 6323 | 607208 | Severe myoclonic epilepsy in infancy | 607208 | C0751122 | OMIM | 1 | | 4030 | 10585 | 182389 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | SCN1A CL E G H | 6323 | 607208 | Severe myoclonic epilepsy in infancy | 607208 | C0751122 | OMIM | 1 | | 4030 | 10585 | 182389 |
HP:0001268 | HP:0000726 | Dementia | 1 | SCN1A CL E G H | 6323 | 607208 | Severe myoclonic epilepsy in infancy | 607208 | C0751122 | OMIM | 1 | | 4030 | 10585 | 182389 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | SCN1A CL E G H | 6323 | 607208 | Severe myoclonic epilepsy in infancy | 607208 | C0751122 | OMIM | 1 | | 4030 | 10585 | 182389 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | SGPL1 CL E G H | 8879 | 617575 | Nephrotic syndrome type 14 | 617575 | C4539778 | OMIM | 1 | | 218 | 10817 | 603729 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | SGPL1 CL E G H | 8879 | 617575 | Nephrotic syndrome type 14 | 617575 | C4539778 | OMIM | 1 | | 218 | 10817 | 603729 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | SGPL1 CL E G H | 8879 | 617575 | Nephrotic syndrome type 14 | 617575 | C4539778 | OMIM | 1 | | 218 | 10817 | 603729 |
HP:0001268 | HP:0000726 | Dementia | 1 | SGPL1 CL E G H | 8879 | 617575 | Nephrotic syndrome type 14 | 617575 | C4539778 | OMIM | 1 | | 218 | 10817 | 603729 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | SGPL1 CL E G H | 8879 | 617575 | Nephrotic syndrome type 14 | 617575 | C4539778 | OMIM | 1 | | 218 | 10817 | 603729 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | SLC20A2 CL E G H | 6575 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 337 | 10947 | 158378 |
HP:0001268 | HP:0000726 | Dementia | 1 | SLC20A2 CL E G H | 6575 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 337 | 10947 | 158378 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | SLC20A2 CL E G H | 6575 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 337 | 10947 | 158378 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | SLC20A2 CL E G H | 6575 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 337 | 10947 | 158378 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | SLC20A2 CL E G H | 6575 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 337 | 10947 | 158378 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | SLC6A1 CL E G H | 6529 | 1942 | | | | ORPHA | 1 | | 809 | 11042 | 137165 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | SLC6A1 CL E G H | 6529 | 1942 | | | | ORPHA | 1 | | 809 | 11042 | 137165 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | SLC6A1 CL E G H | 6529 | 1942 | | | | ORPHA | 1 | | 809 | 11042 | 137165 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | SLC6A1 CL E G H | 6529 | 1942 | | | | ORPHA | 1 | | 809 | 11042 | 137165 |
HP:0001268 | HP:0000726 | Dementia | 1 | SLC6A1 CL E G H | 6529 | 1942 | | | | ORPHA | 1 | | 809 | 11042 | 137165 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001268 | HP:0000726 | Dementia | 1 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | SNORD118 CL E G H | 727676 | 614561 | Leukoencephalopathy, brain calcifications, and cysts | 614561 | C3281200 | OMIM | 1 | | 189 | 32952 | 616663 |
HP:0001268 | HP:0000726 | Dementia | 1 | SNORD118 CL E G H | 727676 | 614561 | Leukoencephalopathy, brain calcifications, and cysts | 614561 | C3281200 | OMIM | 1 | | 189 | 32952 | 616663 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | SNORD118 CL E G H | 727676 | 614561 | Leukoencephalopathy, brain calcifications, and cysts | 614561 | C3281200 | OMIM | 1 | | 189 | 32952 | 616663 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | SNORD118 CL E G H | 727676 | 614561 | Leukoencephalopathy, brain calcifications, and cysts | 614561 | C3281200 | OMIM | 1 | | 189 | 32952 | 616663 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | SNORD118 CL E G H | 727676 | 614561 | Leukoencephalopathy, brain calcifications, and cysts | 614561 | C3281200 | OMIM | 1 | | 189 | 32952 | 616663 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | SPG11 CL E G H | 80208 | 2822 | Hyperinsulinism, focal | | | ORPHA | 1 | | 2625 | 11226 | 610844 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | SPG11 CL E G H | 80208 | 2822 | Hyperinsulinism, focal | | | ORPHA | 1 | | 2625 | 11226 | 610844 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | SPG11 CL E G H | 80208 | 2822 | Hyperinsulinism, focal | | | ORPHA | 1 | | 2625 | 11226 | 610844 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | SPG11 CL E G H | 80208 | 2822 | Hyperinsulinism, focal | | | ORPHA | 1 | | 2625 | 11226 | 610844 |
HP:0001268 | HP:0000726 | Dementia | 1 | SPG11 CL E G H | 80208 | 2822 | Hyperinsulinism, focal | | | ORPHA | 1 | | 2625 | 11226 | 610844 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | SPG11 CL E G H | 80208 | 604360 | Spastic paraplegia 11, autosomal recessive | 604360 | C1858479 | OMIM | 1 | | 2625 | 11226 | 610844 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | SPG11 CL E G H | 80208 | 604360 | Spastic paraplegia 11, autosomal recessive | 604360 | C1858479 | OMIM | 1 | | 2625 | 11226 | 610844 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | SPG11 CL E G H | 80208 | 604360 | Spastic paraplegia 11, autosomal recessive | 604360 | C1858479 | OMIM | 1 | | 2625 | 11226 | 610844 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | SPG11 CL E G H | 80208 | 604360 | Spastic paraplegia 11, autosomal recessive | 604360 | C1858479 | OMIM | 1 | | 2625 | 11226 | 610844 |
HP:0001268 | HP:0000726 | Dementia | 1 | SPG11 CL E G H | 80208 | 604360 | Spastic paraplegia 11, autosomal recessive | 604360 | C1858479 | OMIM | 1 | | 2625 | 11226 | 610844 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | SQSTM1 CL E G H | 8878 | 617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 617145 | C4310693 | OMIM | 1 | | 677 | 11280 | 601530 |
HP:0001268 | HP:0000726 | Dementia | 1 | SQSTM1 CL E G H | 8878 | 617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 617145 | C4310693 | OMIM | 1 | | 677 | 11280 | 601530 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | SQSTM1 CL E G H | 8878 | 617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 617145 | C4310693 | OMIM | 1 | | 677 | 11280 | 601530 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | SQSTM1 CL E G H | 8878 | 617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 617145 | C4310693 | OMIM | 1 | | 677 | 11280 | 601530 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | SQSTM1 CL E G H | 8878 | 617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 617145 | C4310693 | OMIM | 1 | | 677 | 11280 | 601530 |
HP:0001268 | HP:0000726 | Dementia | 1 | TBC1D24 CL E G H | 57465 | 352582 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | TBC1D24 CL E G H | 57465 | 352582 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | TBC1D24 CL E G H | 57465 | 352582 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | TBC1D24 CL E G H | 57465 | 352582 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | TBC1D24 CL E G H | 57465 | 352582 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | TBP CL E G H | 6908 | 98759 | | | | ORPHA | 1 | | 131 | 11588 | 600075 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | TBP CL E G H | 6908 | 98759 | | | | ORPHA | 1 | | 131 | 11588 | 600075 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | TBP CL E G H | 6908 | 98759 | | | | ORPHA | 1 | | 131 | 11588 | 600075 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | TBP CL E G H | 6908 | 98759 | | | | ORPHA | 1 | | 131 | 11588 | 600075 |
HP:0001268 | HP:0000726 | Dementia | 1 | TBP CL E G H | 6908 | 98759 | | | | ORPHA | 1 | | 131 | 11588 | 600075 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | TIMM8A CL E G H | 1678 | 304700 | Mohr-Tranebjaerg syndrome | 304700 | C0796074 | OMIM | 1 | | 227 | 11817 | 300356 |
HP:0001268 | HP:0000726 | Dementia | 1 | TIMM8A CL E G H | 1678 | 304700 | Mohr-Tranebjaerg syndrome | 304700 | C0796074 | OMIM | 1 | | 227 | 11817 | 300356 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | TIMM8A CL E G H | 1678 | 304700 | Mohr-Tranebjaerg syndrome | 304700 | C0796074 | OMIM | 1 | | 227 | 11817 | 300356 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | TIMM8A CL E G H | 1678 | 304700 | Mohr-Tranebjaerg syndrome | 304700 | C0796074 | OMIM | 1 | | 227 | 11817 | 300356 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | TIMM8A CL E G H | 1678 | 304700 | Mohr-Tranebjaerg syndrome | 304700 | C0796074 | OMIM | 1 | | 227 | 11817 | 300356 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | TREX1 CL E G H | 11277 | 247691 | | | | ORPHA | 1 | | 418 | 12269 | 606609 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | TREX1 CL E G H | 11277 | 247691 | | | | ORPHA | 1 | | 418 | 12269 | 606609 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | TREX1 CL E G H | 11277 | 247691 | | | | ORPHA | 1 | | 418 | 12269 | 606609 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | TREX1 CL E G H | 11277 | 247691 | | | | ORPHA | 1 | | 418 | 12269 | 606609 |
HP:0001268 | HP:0000726 | Dementia | 1 | TREX1 CL E G H | 11277 | 247691 | | | | ORPHA | 1 | | 418 | 12269 | 606609 |
HP:0001268 | HP:0000726 | Dementia | 1 | UBTF CL E G H | 7343 | 617672 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY | 617672 | C4540086 | OMIM | 1 | | 84 | 12511 | 600673 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | UBTF CL E G H | 7343 | 617672 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY | 617672 | C4540086 | OMIM | 1 | | 84 | 12511 | 600673 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | UBTF CL E G H | 7343 | 617672 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY | 617672 | C4540086 | OMIM | 1 | | 84 | 12511 | 600673 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | UBTF CL E G H | 7343 | 617672 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY | 617672 | C4540086 | OMIM | 1 | | 84 | 12511 | 600673 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | UBTF CL E G H | 7343 | 617672 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY | 617672 | C4540086 | OMIM | 1 | | 84 | 12511 | 600673 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | XPA CL E G H | 7507 | 278700 | Xeroderma pigmentosum, type 1 | 278700 | C0268135 | OMIM | 1 | | 321 | 12814 | 611153 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | XPA CL E G H | 7507 | 278700 | Xeroderma pigmentosum, type 1 | 278700 | C0268135 | OMIM | 1 | | 321 | 12814 | 611153 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | XPA CL E G H | 7507 | 278700 | Xeroderma pigmentosum, type 1 | 278700 | C0268135 | OMIM | 1 | | 321 | 12814 | 611153 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | XPA CL E G H | 7507 | 278700 | Xeroderma pigmentosum, type 1 | 278700 | C0268135 | OMIM | 1 | | 321 | 12814 | 611153 |
HP:0001268 | HP:0000726 | Dementia | 1 | XPA CL E G H | 7507 | 278700 | Xeroderma pigmentosum, type 1 | 278700 | C0268135 | OMIM | 1 | | 321 | 12814 | 611153 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | ACTB CL E G H | 60 | 79107 | | | | ORPHA | 1 | | 512 | 132 | 102630 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | ACTB CL E G H | 60 | 79107 | | | | ORPHA | 1 | | 512 | 132 | 102630 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | ACTB CL E G H | 60 | 79107 | | | | ORPHA | 1 | | 512 | 132 | 102630 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | ACTB CL E G H | 60 | 79107 | | | | ORPHA | 1 | | 512 | 132 | 102630 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | ACTB CL E G H | 60 | 79107 | | | | ORPHA | 1 | | 512 | 132 | 102630 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | ACTB CL E G H | 60 | 79107 | | | | ORPHA | 1 | | 512 | 132 | 102630 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | ACTB CL E G H | 60 | 79107 | | | | ORPHA | 1 | | 512 | 132 | 102630 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | ADA2 CL E G H | 51816 | 182410 | Idiopathic livedo reticularis with systemic involvement | 182410 | C0282492 | OMIM | 1 | | 533 | 1839 | 607575 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | ADA2 CL E G H | 51816 | 182410 | Idiopathic livedo reticularis with systemic involvement | 182410 | C0282492 | OMIM | 1 | | 533 | 1839 | 607575 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | ADA2 CL E G H | 51816 | 182410 | Idiopathic livedo reticularis with systemic involvement | 182410 | C0282492 | OMIM | 1 | | 533 | 1839 | 607575 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | ADA2 CL E G H | 51816 | 182410 | Idiopathic livedo reticularis with systemic involvement | 182410 | C0282492 | OMIM | 1 | | 533 | 1839 | 607575 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | ADA2 CL E G H | 51816 | 182410 | Idiopathic livedo reticularis with systemic involvement | 182410 | C0282492 | OMIM | 1 | | 533 | 1839 | 607575 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | ADA2 CL E G H | 51816 | 182410 | Idiopathic livedo reticularis with systemic involvement | 182410 | C0282492 | OMIM | 1 | | 533 | 1839 | 607575 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | ADA2 CL E G H | 51816 | 182410 | Idiopathic livedo reticularis with systemic involvement | 182410 | C0282492 | OMIM | 1 | | 533 | 1839 | 607575 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | AP5Z1 CL E G H | 9907 | 613647 | Spastic paraplegia 48, autosomal recessive | 613647 | C3150901 | OMIM | 1 | | 1021 | 22197 | 613653 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | AP5Z1 CL E G H | 9907 | 613647 | Spastic paraplegia 48, autosomal recessive | 613647 | C3150901 | OMIM | 1 | | 1021 | 22197 | 613653 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | AP5Z1 CL E G H | 9907 | 613647 | Spastic paraplegia 48, autosomal recessive | 613647 | C3150901 | OMIM | 1 | | 1021 | 22197 | 613653 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | AP5Z1 CL E G H | 9907 | 613647 | Spastic paraplegia 48, autosomal recessive | 613647 | C3150901 | OMIM | 1 | | 1021 | 22197 | 613653 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | AP5Z1 CL E G H | 9907 | 613647 | Spastic paraplegia 48, autosomal recessive | 613647 | C3150901 | OMIM | 1 | | 1021 | 22197 | 613653 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | AP5Z1 CL E G H | 9907 | 613647 | Spastic paraplegia 48, autosomal recessive | 613647 | C3150901 | OMIM | 1 | | 1021 | 22197 | 613653 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | AP5Z1 CL E G H | 9907 | 613647 | Spastic paraplegia 48, autosomal recessive | 613647 | C3150901 | OMIM | 1 | | 1021 | 22197 | 613653 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | ARSA CL E G H | 410 | 250100 | Metachromatic leukodystrophy | 250100 | C0023522 | OMIM | 1 | | 1140 | 713 | 607574 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | ARSA CL E G H | 410 | 250100 | Metachromatic leukodystrophy | 250100 | C0023522 | OMIM | 1 | | 1140 | 713 | 607574 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | ARSA CL E G H | 410 | 250100 | Metachromatic leukodystrophy | 250100 | C0023522 | OMIM | 1 | | 1140 | 713 | 607574 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | ARSA CL E G H | 410 | 250100 | Metachromatic leukodystrophy | 250100 | C0023522 | OMIM | 1 | | 1140 | 713 | 607574 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | ARSA CL E G H | 410 | 250100 | Metachromatic leukodystrophy | 250100 | C0023522 | OMIM | 1 | | 1140 | 713 | 607574 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | ARSA CL E G H | 410 | 250100 | Metachromatic leukodystrophy | 250100 | C0023522 | OMIM | 1 | | 1140 | 713 | 607574 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | ARSA CL E G H | 410 | 250100 | Metachromatic leukodystrophy | 250100 | C0023522 | OMIM | 1 | | 1140 | 713 | 607574 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | ATP1A2 CL E G H | 477 | 104290 | Alternating hemiplegia of childhood 1 | 104290 | C3549447 | OMIM | 1 | | 1117 | 800 | 182340 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | ATP1A2 CL E G H | 477 | 104290 | Alternating hemiplegia of childhood 1 | 104290 | C3549447 | OMIM | 1 | | 1117 | 800 | 182340 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | ATP1A2 CL E G H | 477 | 104290 | Alternating hemiplegia of childhood 1 | 104290 | C3549447 | OMIM | 1 | | 1117 | 800 | 182340 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | ATP1A2 CL E G H | 477 | 104290 | Alternating hemiplegia of childhood 1 | 104290 | C3549447 | OMIM | 1 | | 1117 | 800 | 182340 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | ATP1A2 CL E G H | 477 | 104290 | Alternating hemiplegia of childhood 1 | 104290 | C3549447 | OMIM | 1 | | 1117 | 800 | 182340 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | ATP1A2 CL E G H | 477 | 104290 | Alternating hemiplegia of childhood 1 | 104290 | C3549447 | OMIM | 1 | | 1117 | 800 | 182340 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | ATP1A2 CL E G H | 477 | 104290 | Alternating hemiplegia of childhood 1 | 104290 | C3549447 | OMIM | 1 | | 1117 | 800 | 182340 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | ATP1A3 CL E G H | 478 | 614820 | Alternating hemiplegia of childhood 2 | 614820 | C3553788 | OMIM | 1 | | 993 | 801 | 182350 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | ATP1A3 CL E G H | 478 | 614820 | Alternating hemiplegia of childhood 2 | 614820 | C3553788 | OMIM | 1 | | 993 | 801 | 182350 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | ATP1A3 CL E G H | 478 | 614820 | Alternating hemiplegia of childhood 2 | 614820 | C3553788 | OMIM | 1 | | 993 | 801 | 182350 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | ATP1A3 CL E G H | 478 | 614820 | Alternating hemiplegia of childhood 2 | 614820 | C3553788 | OMIM | 1 | | 993 | 801 | 182350 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | ATP1A3 CL E G H | 478 | 614820 | Alternating hemiplegia of childhood 2 | 614820 | C3553788 | OMIM | 1 | | 993 | 801 | 182350 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | ATP1A3 CL E G H | 478 | 614820 | Alternating hemiplegia of childhood 2 | 614820 | C3553788 | OMIM | 1 | | 993 | 801 | 182350 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | ATP1A3 CL E G H | 478 | 614820 | Alternating hemiplegia of childhood 2 | 614820 | C3553788 | OMIM | 1 | | 993 | 801 | 182350 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 98 | 10560 | 607640 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 98 | 10560 | 607640 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 98 | 10560 | 607640 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 98 | 10560 | 607640 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 98 | 10560 | 607640 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 98 | 10560 | 607640 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 98 | 10560 | 607640 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 307 | 25443 | 614297 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 307 | 25443 | 614297 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 307 | 25443 | 614297 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 307 | 25443 | 614297 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 307 | 25443 | 614297 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 307 | 25443 | 614297 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 307 | 25443 | 614297 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | CHD2 CL E G H | 1106 | 1942 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | CHD2 CL E G H | 1106 | 1942 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | CHD2 CL E G H | 1106 | 1942 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | CHD2 CL E G H | 1106 | 1942 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | CHD2 CL E G H | 1106 | 1942 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | CHD2 CL E G H | 1106 | 1942 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | CHD2 CL E G H | 1106 | 1942 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | CLN8 CL E G H | 2055 | 1947 | | | | ORPHA | 1 | | 640 | 2079 | 607837 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | CLN8 CL E G H | 2055 | 1947 | | | | ORPHA | 1 | | 640 | 2079 | 607837 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | CLN8 CL E G H | 2055 | 1947 | | | | ORPHA | 1 | | 640 | 2079 | 607837 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | CLN8 CL E G H | 2055 | 1947 | | | | ORPHA | 1 | | 640 | 2079 | 607837 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | CLN8 CL E G H | 2055 | 1947 | | | | ORPHA | 1 | | 640 | 2079 | 607837 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | CLN8 CL E G H | 2055 | 1947 | | | | ORPHA | 1 | | 640 | 2079 | 607837 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | CLN8 CL E G H | 2055 | 1947 | | | | ORPHA | 1 | | 640 | 2079 | 607837 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | CLN8 CL E G H | 2055 | 610003 | Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | 610003 | C1864923 | OMIM | 1 | | 640 | 2079 | 607837 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | CLN8 CL E G H | 2055 | 610003 | Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | 610003 | C1864923 | OMIM | 1 | | 640 | 2079 | 607837 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | CLN8 CL E G H | 2055 | 610003 | Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | 610003 | C1864923 | OMIM | 1 | | 640 | 2079 | 607837 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | CLN8 CL E G H | 2055 | 610003 | Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | 610003 | C1864923 | OMIM | 1 | | 640 | 2079 | 607837 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | CLN8 CL E G H | 2055 | 610003 | Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | 610003 | C1864923 | OMIM | 1 | | 640 | 2079 | 607837 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | CLN8 CL E G H | 2055 | 610003 | Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | 610003 | C1864923 | OMIM | 1 | | 640 | 2079 | 607837 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | CLN8 CL E G H | 2055 | 610003 | Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | 610003 | C1864923 | OMIM | 1 | | 640 | 2079 | 607837 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 281 | 29932 | 609855 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 281 | 29932 | 609855 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 281 | 29932 | 609855 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 281 | 29932 | 609855 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 281 | 29932 | 609855 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 281 | 29932 | 609855 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 281 | 29932 | 609855 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 1 | | 206 | 2309 | 605032 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 1 | | 206 | 2309 | 605032 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 1 | | 206 | 2309 | 605032 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 1 | | 206 | 2309 | 605032 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 1 | | 206 | 2309 | 605032 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 1 | | 206 | 2309 | 605032 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 1 | | 206 | 2309 | 605032 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | CSTB CL E G H | 1476 | 254800 | Unverricht-Lundborg syndrome | 254800 | C0751785 | OMIM | 1 | | 261 | 2482 | 601145 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | CSTB CL E G H | 1476 | 254800 | Unverricht-Lundborg syndrome | 254800 | C0751785 | OMIM | 1 | | 261 | 2482 | 601145 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | CSTB CL E G H | 1476 | 254800 | Unverricht-Lundborg syndrome | 254800 | C0751785 | OMIM | 1 | | 261 | 2482 | 601145 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | CSTB CL E G H | 1476 | 254800 | Unverricht-Lundborg syndrome | 254800 | C0751785 | OMIM | 1 | | 261 | 2482 | 601145 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | CSTB CL E G H | 1476 | 254800 | Unverricht-Lundborg syndrome | 254800 | C0751785 | OMIM | 1 | | 261 | 2482 | 601145 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | CSTB CL E G H | 1476 | 254800 | Unverricht-Lundborg syndrome | 254800 | C0751785 | OMIM | 1 | | 261 | 2482 | 601145 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | CSTB CL E G H | 1476 | 254800 | Unverricht-Lundborg syndrome | 254800 | C0751785 | OMIM | 1 | | 261 | 2482 | 601145 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | CTSD CL E G H | 1509 | 610127 | Ceroid lipofuscinosis neuronal 10 | 610127 | C1864669 | OMIM | 1 | | 669 | 2529 | 116840 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | CTSD CL E G H | 1509 | 610127 | Ceroid lipofuscinosis neuronal 10 | 610127 | C1864669 | OMIM | 1 | | 669 | 2529 | 116840 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | CTSD CL E G H | 1509 | 610127 | Ceroid lipofuscinosis neuronal 10 | 610127 | C1864669 | OMIM | 1 | | 669 | 2529 | 116840 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | CTSD CL E G H | 1509 | 610127 | Ceroid lipofuscinosis neuronal 10 | 610127 | C1864669 | OMIM | 1 | | 669 | 2529 | 116840 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | CTSD CL E G H | 1509 | 610127 | Ceroid lipofuscinosis neuronal 10 | 610127 | C1864669 | OMIM | 1 | | 669 | 2529 | 116840 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | CTSD CL E G H | 1509 | 610127 | Ceroid lipofuscinosis neuronal 10 | 610127 | C1864669 | OMIM | 1 | | 669 | 2529 | 116840 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | CTSD CL E G H | 1509 | 610127 | Ceroid lipofuscinosis neuronal 10 | 610127 | C1864669 | OMIM | 1 | | 669 | 2529 | 116840 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | DCAF17 CL E G H | 80067 | 3464 | | | | ORPHA | 1 | | 366 | 25784 | 612515 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | DCAF17 CL E G H | 80067 | 3464 | | | | ORPHA | 1 | | 366 | 25784 | 612515 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | DCAF17 CL E G H | 80067 | 3464 | | | | ORPHA | 1 | | 366 | 25784 | 612515 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | DCAF17 CL E G H | 80067 | 3464 | | | | ORPHA | 1 | | 366 | 25784 | 612515 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | DCAF17 CL E G H | 80067 | 3464 | | | | ORPHA | 1 | | 366 | 25784 | 612515 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | DCAF17 CL E G H | 80067 | 3464 | | | | ORPHA | 1 | | 366 | 25784 | 612515 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | DCAF17 CL E G H | 80067 | 3464 | | | | ORPHA | 1 | | 366 | 25784 | 612515 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 1572 | 3434 | 126340 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 1572 | 3434 | 126340 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 1572 | 3434 | 126340 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 1572 | 3434 | 126340 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 1572 | 3434 | 126340 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 1572 | 3434 | 126340 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 1572 | 3434 | 126340 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 1645 | 3438 | 609413 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 1645 | 3438 | 609413 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 1645 | 3438 | 609413 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 1645 | 3438 | 609413 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 1645 | 3438 | 609413 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 1645 | 3438 | 609413 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 1645 | 3438 | 609413 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | FA2H CL E G H | 79152 | 171629 | | | | ORPHA | 1 | | 381 | 21197 | 611026 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | FA2H CL E G H | 79152 | 171629 | | | | ORPHA | 1 | | 381 | 21197 | 611026 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | FA2H CL E G H | 79152 | 171629 | | | | ORPHA | 1 | | 381 | 21197 | 611026 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | FA2H CL E G H | 79152 | 171629 | | | | ORPHA | 1 | | 381 | 21197 | 611026 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | FA2H CL E G H | 79152 | 171629 | | | | ORPHA | 1 | | 381 | 21197 | 611026 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | FA2H CL E G H | 79152 | 171629 | | | | ORPHA | 1 | | 381 | 21197 | 611026 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | FA2H CL E G H | 79152 | 171629 | | | | ORPHA | 1 | | 381 | 21197 | 611026 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | FA2H CL E G H | 79152 | 612319 | Spastic paraplegia 35 | 612319 | C3668943 | OMIM | 1 | | 381 | 21197 | 611026 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | FA2H CL E G H | 79152 | 612319 | Spastic paraplegia 35 | 612319 | C3668943 | OMIM | 1 | | 381 | 21197 | 611026 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | FA2H CL E G H | 79152 | 612319 | Spastic paraplegia 35 | 612319 | C3668943 | OMIM | 1 | | 381 | 21197 | 611026 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | FA2H CL E G H | 79152 | 612319 | Spastic paraplegia 35 | 612319 | C3668943 | OMIM | 1 | | 381 | 21197 | 611026 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | FA2H CL E G H | 79152 | 612319 | Spastic paraplegia 35 | 612319 | C3668943 | OMIM | 1 | | 381 | 21197 | 611026 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | FA2H CL E G H | 79152 | 612319 | Spastic paraplegia 35 | 612319 | C3668943 | OMIM | 1 | | 381 | 21197 | 611026 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | FA2H CL E G H | 79152 | 612319 | Spastic paraplegia 35 | 612319 | C3668943 | OMIM | 1 | | 381 | 21197 | 611026 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | GNAS CL E G H | 2778 | 219080 | Cushing's syndrome | 219080 | C1857451 | OMIM | 1 | | 644 | 4392 | 139320 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | GNAS CL E G H | 2778 | 219080 | Cushing's syndrome | 219080 | C1857451 | OMIM | 1 | | 644 | 4392 | 139320 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | GNAS CL E G H | 2778 | 219080 | Cushing's syndrome | 219080 | C1857451 | OMIM | 1 | | 644 | 4392 | 139320 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | GNAS CL E G H | 2778 | 219080 | Cushing's syndrome | 219080 | C1857451 | OMIM | 1 | | 644 | 4392 | 139320 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | GNAS CL E G H | 2778 | 219080 | Cushing's syndrome | 219080 | C1857451 | OMIM | 1 | | 644 | 4392 | 139320 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | GNAS CL E G H | 2778 | 219080 | Cushing's syndrome | 219080 | C1857451 | OMIM | 1 | | 644 | 4392 | 139320 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | GNAS CL E G H | 2778 | 219080 | Cushing's syndrome | 219080 | C1857451 | OMIM | 1 | | 644 | 4392 | 139320 |
HP:0001268 | HP:0002145 | Frontotemporal 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:0001268 | HP:0002439 | Frontolimbic 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:0001268 | HP:0007307 | Rapid neurologic deterioration | 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:0001268 | HP:0000727 | Frontal lobe 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:0001268 | HP:0007123 | Subcortical 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:0001268 | HP:0007272 | Progressive psychomotor deterioration | 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:0001268 | HP:0007064 | Progressive language deterioration | 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:0001268 | HP:0002145 | Frontotemporal dementia | 2 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | MFSD8 CL E G H | 256471 | 610951 | Ceroid lipofuscinosis neuronal 7 | 610951 | C1838571 | OMIM | 1 | | 869 | 28486 | 611124 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | MFSD8 CL E G H | 256471 | 610951 | Ceroid lipofuscinosis neuronal 7 | 610951 | C1838571 | OMIM | 1 | | 869 | 28486 | 611124 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | MFSD8 CL E G H | 256471 | 610951 | Ceroid lipofuscinosis neuronal 7 | 610951 | C1838571 | OMIM | 1 | | 869 | 28486 | 611124 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | MFSD8 CL E G H | 256471 | 610951 | Ceroid lipofuscinosis neuronal 7 | 610951 | C1838571 | OMIM | 1 | | 869 | 28486 | 611124 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | MFSD8 CL E G H | 256471 | 610951 | Ceroid lipofuscinosis neuronal 7 | 610951 | C1838571 | OMIM | 1 | | 869 | 28486 | 611124 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | MFSD8 CL E G H | 256471 | 610951 | Ceroid lipofuscinosis neuronal 7 | 610951 | C1838571 | OMIM | 1 | | 869 | 28486 | 611124 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | MFSD8 CL E G H | 256471 | 610951 | Ceroid lipofuscinosis neuronal 7 | 610951 | C1838571 | OMIM | 1 | | 869 | 28486 | 611124 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | NBN CL E G H | 4683 | 647 | | | | ORPHA | 1 | | 3250 | 7652 | 602667 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | NBN CL E G H | 4683 | 647 | | | | ORPHA | 1 | | 3250 | 7652 | 602667 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | NBN CL E G H | 4683 | 647 | | | | ORPHA | 1 | | 3250 | 7652 | 602667 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | NBN CL E G H | 4683 | 647 | | | | ORPHA | 1 | | 3250 | 7652 | 602667 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | NBN CL E G H | 4683 | 647 | | | | ORPHA | 1 | | 3250 | 7652 | 602667 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | NBN CL E G H | 4683 | 647 | | | | ORPHA | 1 | | 3250 | 7652 | 602667 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | NBN CL E G H | 4683 | 647 | | | | ORPHA | 1 | | 3250 | 7652 | 602667 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 1 | | 281 | 7989 | 164790 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 1 | | 281 | 7989 | 164790 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 1 | | 281 | 7989 | 164790 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 1 | | 281 | 7989 | 164790 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 1 | | 281 | 7989 | 164790 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 1 | | 281 | 7989 | 164790 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 1 | | 281 | 7989 | 164790 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | PDE10A CL E G H | 10846 | 616922 | Striatal degeneration, autosomal dominant 2 | 616922 | C4310791 | OMIM | 1 | | 222 | 8772 | 610652 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | PDE10A CL E G H | 10846 | 616922 | Striatal degeneration, autosomal dominant 2 | 616922 | C4310791 | OMIM | 1 | | 222 | 8772 | 610652 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | PDE10A CL E G H | 10846 | 616922 | Striatal degeneration, autosomal dominant 2 | 616922 | C4310791 | OMIM | 1 | | 222 | 8772 | 610652 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | PDE10A CL E G H | 10846 | 616922 | Striatal degeneration, autosomal dominant 2 | 616922 | C4310791 | OMIM | 1 | | 222 | 8772 | 610652 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | PDE10A CL E G H | 10846 | 616922 | Striatal degeneration, autosomal dominant 2 | 616922 | C4310791 | OMIM | 1 | | 222 | 8772 | 610652 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | PDE10A CL E G H | 10846 | 616922 | Striatal degeneration, autosomal dominant 2 | 616922 | C4310791 | OMIM | 1 | | 222 | 8772 | 610652 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | PDE10A CL E G H | 10846 | 616922 | Striatal degeneration, autosomal dominant 2 | 616922 | C4310791 | OMIM | 1 | | 222 | 8772 | 610652 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | PDE11A CL E G H | 50940 | 610475 | Pigmented nodular adrenocortical disease, primary, 2 | 610475 | C1864851 | OMIM | 1 | | 203 | 8773 | 604961 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | PDE11A CL E G H | 50940 | 610475 | Pigmented nodular adrenocortical disease, primary, 2 | 610475 | C1864851 | OMIM | 1 | | 203 | 8773 | 604961 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | PDE11A CL E G H | 50940 | 610475 | Pigmented nodular adrenocortical disease, primary, 2 | 610475 | C1864851 | OMIM | 1 | | 203 | 8773 | 604961 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | PDE11A CL E G H | 50940 | 610475 | Pigmented nodular adrenocortical disease, primary, 2 | 610475 | C1864851 | OMIM | 1 | | 203 | 8773 | 604961 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | PDE11A CL E G H | 50940 | 610475 | Pigmented nodular adrenocortical disease, primary, 2 | 610475 | C1864851 | OMIM | 1 | | 203 | 8773 | 604961 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | PDE11A CL E G H | 50940 | 610475 | Pigmented nodular adrenocortical disease, primary, 2 | 610475 | C1864851 | OMIM | 1 | | 203 | 8773 | 604961 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | PDE11A CL E G H | 50940 | 610475 | Pigmented nodular adrenocortical disease, primary, 2 | 610475 | C1864851 | OMIM | 1 | | 203 | 8773 | 604961 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | PDGFB CL E G H | 5155 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 151 | 8800 | 190040 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | PDGFB CL E G H | 5155 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 151 | 8800 | 190040 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | PDGFB CL E G H | 5155 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 151 | 8800 | 190040 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | PDGFB CL E G H | 5155 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 151 | 8800 | 190040 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | PDGFB CL E G H | 5155 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 151 | 8800 | 190040 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | PDGFB CL E G H | 5155 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 151 | 8800 | 190040 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | PDGFB CL E G H | 5155 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 151 | 8800 | 190040 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | PDGFRB CL E G H | 5159 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 531 | 8804 | 173410 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | PDGFRB CL E G H | 5159 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 531 | 8804 | 173410 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | PDGFRB CL E G H | 5159 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 531 | 8804 | 173410 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | PDGFRB CL E G H | 5159 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 531 | 8804 | 173410 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | PDGFRB CL E G H | 5159 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 531 | 8804 | 173410 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | PDGFRB CL E G H | 5159 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 531 | 8804 | 173410 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | PDGFRB CL E G H | 5159 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 531 | 8804 | 173410 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | PLA2G6 CL E G H | 8398 | 610217 | Neurodegeneration with brain iron accumulation 2b | 610217 | C1857747 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | PLA2G6 CL E G H | 8398 | 610217 | Neurodegeneration with brain iron accumulation 2b | 610217 | C1857747 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | PLA2G6 CL E G H | 8398 | 610217 | Neurodegeneration with brain iron accumulation 2b | 610217 | C1857747 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | PLA2G6 CL E G H | 8398 | 610217 | Neurodegeneration with brain iron accumulation 2b | 610217 | C1857747 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | PLA2G6 CL E G H | 8398 | 610217 | Neurodegeneration with brain iron accumulation 2b | 610217 | C1857747 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | PLA2G6 CL E G H | 8398 | 610217 | Neurodegeneration with brain iron accumulation 2b | 610217 | C1857747 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | PLA2G6 CL E G H | 8398 | 610217 | Neurodegeneration with brain iron accumulation 2b | 610217 | C1857747 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | PRKAR1A CL E G H | 5573 | 610489 | Pigmented nodular adrenocortical disease, primary, 1 | 610489 | C1864846 | OMIM | 1 | | 1131 | 9388 | 188830 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | PRKAR1A CL E G H | 5573 | 610489 | Pigmented nodular adrenocortical disease, primary, 1 | 610489 | C1864846 | OMIM | 1 | | 1131 | 9388 | 188830 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | PRKAR1A CL E G H | 5573 | 610489 | Pigmented nodular adrenocortical disease, primary, 1 | 610489 | C1864846 | OMIM | 1 | | 1131 | 9388 | 188830 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | PRKAR1A CL E G H | 5573 | 610489 | Pigmented nodular adrenocortical disease, primary, 1 | 610489 | C1864846 | OMIM | 1 | | 1131 | 9388 | 188830 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | PRKAR1A CL E G H | 5573 | 610489 | Pigmented nodular adrenocortical disease, primary, 1 | 610489 | C1864846 | OMIM | 1 | | 1131 | 9388 | 188830 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | PRKAR1A CL E G H | 5573 | 610489 | Pigmented nodular adrenocortical disease, primary, 1 | 610489 | C1864846 | OMIM | 1 | | 1131 | 9388 | 188830 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | PRKAR1A CL E G H | 5573 | 610489 | Pigmented nodular adrenocortical disease, primary, 1 | 610489 | C1864846 | OMIM | 1 | | 1131 | 9388 | 188830 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | PRKCG CL E G H | 5582 | 605361 | Spinocerebellar ataxia 14 | 605361 | C1854369 | OMIM | 1 | | 323 | 9402 | 176980 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | PRKCG CL E G H | 5582 | 605361 | Spinocerebellar ataxia 14 | 605361 | C1854369 | OMIM | 1 | | 323 | 9402 | 176980 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | PRKCG CL E G H | 5582 | 605361 | Spinocerebellar ataxia 14 | 605361 | C1854369 | OMIM | 1 | | 323 | 9402 | 176980 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | PRKCG CL E G H | 5582 | 605361 | Spinocerebellar ataxia 14 | 605361 | C1854369 | OMIM | 1 | | 323 | 9402 | 176980 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | PRKCG CL E G H | 5582 | 605361 | Spinocerebellar ataxia 14 | 605361 | C1854369 | OMIM | 1 | | 323 | 9402 | 176980 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | PRKCG CL E G H | 5582 | 605361 | Spinocerebellar ataxia 14 | 605361 | C1854369 | OMIM | 1 | | 323 | 9402 | 176980 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | PRKCG CL E G H | 5582 | 605361 | Spinocerebellar ataxia 14 | 605361 | C1854369 | OMIM | 1 | | 323 | 9402 | 176980 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | PSAP CL E G H | 5660 | 249900 | Sphingolipid activator protein 1 deficiency | 249900 | C0268262 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | PSAP CL E G H | 5660 | 249900 | Sphingolipid activator protein 1 deficiency | 249900 | C0268262 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | PSAP CL E G H | 5660 | 249900 | Sphingolipid activator protein 1 deficiency | 249900 | C0268262 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | PSAP CL E G H | 5660 | 249900 | Sphingolipid activator protein 1 deficiency | 249900 | C0268262 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | PSAP CL E G H | 5660 | 249900 | Sphingolipid activator protein 1 deficiency | 249900 | C0268262 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | PSAP CL E G H | 5660 | 249900 | Sphingolipid activator protein 1 deficiency | 249900 | C0268262 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | PSAP CL E G H | 5660 | 249900 | Sphingolipid activator protein 1 deficiency | 249900 | C0268262 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | SCN1A CL E G H | 6323 | 607208 | Severe myoclonic epilepsy in infancy | 607208 | C0751122 | OMIM | 1 | | 4030 | 10585 | 182389 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | SCN1A CL E G H | 6323 | 607208 | Severe myoclonic epilepsy in infancy | 607208 | C0751122 | OMIM | 1 | | 4030 | 10585 | 182389 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | SCN1A CL E G H | 6323 | 607208 | Severe myoclonic epilepsy in infancy | 607208 | C0751122 | OMIM | 1 | | 4030 | 10585 | 182389 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | SCN1A CL E G H | 6323 | 607208 | Severe myoclonic epilepsy in infancy | 607208 | C0751122 | OMIM | 1 | | 4030 | 10585 | 182389 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | SCN1A CL E G H | 6323 | 607208 | Severe myoclonic epilepsy in infancy | 607208 | C0751122 | OMIM | 1 | | 4030 | 10585 | 182389 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | SCN1A CL E G H | 6323 | 607208 | Severe myoclonic epilepsy in infancy | 607208 | C0751122 | OMIM | 1 | | 4030 | 10585 | 182389 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | SCN1A CL E G H | 6323 | 607208 | Severe myoclonic epilepsy in infancy | 607208 | C0751122 | OMIM | 1 | | 4030 | 10585 | 182389 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | SGPL1 CL E G H | 8879 | 617575 | Nephrotic syndrome type 14 | 617575 | C4539778 | OMIM | 1 | | 218 | 10817 | 603729 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | SGPL1 CL E G H | 8879 | 617575 | Nephrotic syndrome type 14 | 617575 | C4539778 | OMIM | 1 | | 218 | 10817 | 603729 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | SGPL1 CL E G H | 8879 | 617575 | Nephrotic syndrome type 14 | 617575 | C4539778 | OMIM | 1 | | 218 | 10817 | 603729 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | SGPL1 CL E G H | 8879 | 617575 | Nephrotic syndrome type 14 | 617575 | C4539778 | OMIM | 1 | | 218 | 10817 | 603729 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | SGPL1 CL E G H | 8879 | 617575 | Nephrotic syndrome type 14 | 617575 | C4539778 | OMIM | 1 | | 218 | 10817 | 603729 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | SGPL1 CL E G H | 8879 | 617575 | Nephrotic syndrome type 14 | 617575 | C4539778 | OMIM | 1 | | 218 | 10817 | 603729 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | SGPL1 CL E G H | 8879 | 617575 | Nephrotic syndrome type 14 | 617575 | C4539778 | OMIM | 1 | | 218 | 10817 | 603729 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | SLC20A2 CL E G H | 6575 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 337 | 10947 | 158378 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | SLC20A2 CL E G H | 6575 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 337 | 10947 | 158378 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | SLC20A2 CL E G H | 6575 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 337 | 10947 | 158378 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | SLC20A2 CL E G H | 6575 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 337 | 10947 | 158378 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | SLC20A2 CL E G H | 6575 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 337 | 10947 | 158378 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | SLC20A2 CL E G H | 6575 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 337 | 10947 | 158378 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | SLC20A2 CL E G H | 6575 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 337 | 10947 | 158378 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | SLC6A1 CL E G H | 6529 | 1942 | | | | ORPHA | 1 | | 809 | 11042 | 137165 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | SLC6A1 CL E G H | 6529 | 1942 | | | | ORPHA | 1 | | 809 | 11042 | 137165 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | SLC6A1 CL E G H | 6529 | 1942 | | | | ORPHA | 1 | | 809 | 11042 | 137165 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | SLC6A1 CL E G H | 6529 | 1942 | | | | ORPHA | 1 | | 809 | 11042 | 137165 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | SLC6A1 CL E G H | 6529 | 1942 | | | | ORPHA | 1 | | 809 | 11042 | 137165 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | SLC6A1 CL E G H | 6529 | 1942 | | | | ORPHA | 1 | | 809 | 11042 | 137165 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | SLC6A1 CL E G H | 6529 | 1942 | | | | ORPHA | 1 | | 809 | 11042 | 137165 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | SNORD118 CL E G H | 727676 | 614561 | Leukoencephalopathy, brain calcifications, and cysts | 614561 | C3281200 | OMIM | 1 | | 189 | 32952 | 616663 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | SNORD118 CL E G H | 727676 | 614561 | Leukoencephalopathy, brain calcifications, and cysts | 614561 | C3281200 | OMIM | 1 | | 189 | 32952 | 616663 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | SNORD118 CL E G H | 727676 | 614561 | Leukoencephalopathy, brain calcifications, and cysts | 614561 | C3281200 | OMIM | 1 | | 189 | 32952 | 616663 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | SNORD118 CL E G H | 727676 | 614561 | Leukoencephalopathy, brain calcifications, and cysts | 614561 | C3281200 | OMIM | 1 | | 189 | 32952 | 616663 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | SNORD118 CL E G H | 727676 | 614561 | Leukoencephalopathy, brain calcifications, and cysts | 614561 | C3281200 | OMIM | 1 | | 189 | 32952 | 616663 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | SNORD118 CL E G H | 727676 | 614561 | Leukoencephalopathy, brain calcifications, and cysts | 614561 | C3281200 | OMIM | 1 | | 189 | 32952 | 616663 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | SNORD118 CL E G H | 727676 | 614561 | Leukoencephalopathy, brain calcifications, and cysts | 614561 | C3281200 | OMIM | 1 | | 189 | 32952 | 616663 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | SPG11 CL E G H | 80208 | 2822 | Hyperinsulinism, focal | | | ORPHA | 1 | | 2625 | 11226 | 610844 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | SPG11 CL E G H | 80208 | 2822 | Hyperinsulinism, focal | | | ORPHA | 1 | | 2625 | 11226 | 610844 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | SPG11 CL E G H | 80208 | 2822 | Hyperinsulinism, focal | | | ORPHA | 1 | | 2625 | 11226 | 610844 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | SPG11 CL E G H | 80208 | 2822 | Hyperinsulinism, focal | | | ORPHA | 1 | | 2625 | 11226 | 610844 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | SPG11 CL E G H | 80208 | 2822 | Hyperinsulinism, focal | | | ORPHA | 1 | | 2625 | 11226 | 610844 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | SPG11 CL E G H | 80208 | 2822 | Hyperinsulinism, focal | | | ORPHA | 1 | | 2625 | 11226 | 610844 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | SPG11 CL E G H | 80208 | 2822 | Hyperinsulinism, focal | | | ORPHA | 1 | | 2625 | 11226 | 610844 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | SPG11 CL E G H | 80208 | 604360 | Spastic paraplegia 11, autosomal recessive | 604360 | C1858479 | OMIM | 1 | | 2625 | 11226 | 610844 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | SPG11 CL E G H | 80208 | 604360 | Spastic paraplegia 11, autosomal recessive | 604360 | C1858479 | OMIM | 1 | | 2625 | 11226 | 610844 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | SPG11 CL E G H | 80208 | 604360 | Spastic paraplegia 11, autosomal recessive | 604360 | C1858479 | OMIM | 1 | | 2625 | 11226 | 610844 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | SPG11 CL E G H | 80208 | 604360 | Spastic paraplegia 11, autosomal recessive | 604360 | C1858479 | OMIM | 1 | | 2625 | 11226 | 610844 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | SPG11 CL E G H | 80208 | 604360 | Spastic paraplegia 11, autosomal recessive | 604360 | C1858479 | OMIM | 1 | | 2625 | 11226 | 610844 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | SPG11 CL E G H | 80208 | 604360 | Spastic paraplegia 11, autosomal recessive | 604360 | C1858479 | OMIM | 1 | | 2625 | 11226 | 610844 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | SPG11 CL E G H | 80208 | 604360 | Spastic paraplegia 11, autosomal recessive | 604360 | C1858479 | OMIM | 1 | | 2625 | 11226 | 610844 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | SQSTM1 CL E G H | 8878 | 617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 617145 | C4310693 | OMIM | 1 | | 677 | 11280 | 601530 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | SQSTM1 CL E G H | 8878 | 617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 617145 | C4310693 | OMIM | 1 | | 677 | 11280 | 601530 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | SQSTM1 CL E G H | 8878 | 617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 617145 | C4310693 | OMIM | 1 | | 677 | 11280 | 601530 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | SQSTM1 CL E G H | 8878 | 617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 617145 | C4310693 | OMIM | 1 | | 677 | 11280 | 601530 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | SQSTM1 CL E G H | 8878 | 617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 617145 | C4310693 | OMIM | 1 | | 677 | 11280 | 601530 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | SQSTM1 CL E G H | 8878 | 617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 617145 | C4310693 | OMIM | 1 | | 677 | 11280 | 601530 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | SQSTM1 CL E G H | 8878 | 617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 617145 | C4310693 | OMIM | 1 | | 677 | 11280 | 601530 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | TBC1D24 CL E G H | 57465 | 352582 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | TBC1D24 CL E G H | 57465 | 352582 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | TBC1D24 CL E G H | 57465 | 352582 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | TBC1D24 CL E G H | 57465 | 352582 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | TBC1D24 CL E G H | 57465 | 352582 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | TBC1D24 CL E G H | 57465 | 352582 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | TBC1D24 CL E G H | 57465 | 352582 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | TBP CL E G H | 6908 | 98759 | | | | ORPHA | 1 | | 131 | 11588 | 600075 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | TBP CL E G H | 6908 | 98759 | | | | ORPHA | 1 | | 131 | 11588 | 600075 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | TBP CL E G H | 6908 | 98759 | | | | ORPHA | 1 | | 131 | 11588 | 600075 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | TBP CL E G H | 6908 | 98759 | | | | ORPHA | 1 | | 131 | 11588 | 600075 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | TBP CL E G H | 6908 | 98759 | | | | ORPHA | 1 | | 131 | 11588 | 600075 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | TBP CL E G H | 6908 | 98759 | | | | ORPHA | 1 | | 131 | 11588 | 600075 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | TBP CL E G H | 6908 | 98759 | | | | ORPHA | 1 | | 131 | 11588 | 600075 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | TIMM8A CL E G H | 1678 | 304700 | Mohr-Tranebjaerg syndrome | 304700 | C0796074 | OMIM | 1 | | 227 | 11817 | 300356 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | TIMM8A CL E G H | 1678 | 304700 | Mohr-Tranebjaerg syndrome | 304700 | C0796074 | OMIM | 1 | | 227 | 11817 | 300356 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | TIMM8A CL E G H | 1678 | 304700 | Mohr-Tranebjaerg syndrome | 304700 | C0796074 | OMIM | 1 | | 227 | 11817 | 300356 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | TIMM8A CL E G H | 1678 | 304700 | Mohr-Tranebjaerg syndrome | 304700 | C0796074 | OMIM | 1 | | 227 | 11817 | 300356 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | TIMM8A CL E G H | 1678 | 304700 | Mohr-Tranebjaerg syndrome | 304700 | C0796074 | OMIM | 1 | | 227 | 11817 | 300356 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | TIMM8A CL E G H | 1678 | 304700 | Mohr-Tranebjaerg syndrome | 304700 | C0796074 | OMIM | 1 | | 227 | 11817 | 300356 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | TIMM8A CL E G H | 1678 | 304700 | Mohr-Tranebjaerg syndrome | 304700 | C0796074 | OMIM | 1 | | 227 | 11817 | 300356 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | TREX1 CL E G H | 11277 | 247691 | | | | ORPHA | 1 | | 418 | 12269 | 606609 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | TREX1 CL E G H | 11277 | 247691 | | | | ORPHA | 1 | | 418 | 12269 | 606609 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | TREX1 CL E G H | 11277 | 247691 | | | | ORPHA | 1 | | 418 | 12269 | 606609 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | TREX1 CL E G H | 11277 | 247691 | | | | ORPHA | 1 | | 418 | 12269 | 606609 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | TREX1 CL E G H | 11277 | 247691 | | | | ORPHA | 1 | | 418 | 12269 | 606609 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | TREX1 CL E G H | 11277 | 247691 | | | | ORPHA | 1 | | 418 | 12269 | 606609 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | TREX1 CL E G H | 11277 | 247691 | | | | ORPHA | 1 | | 418 | 12269 | 606609 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | UBTF CL E G H | 7343 | 617672 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY | 617672 | C4540086 | OMIM | 1 | | 84 | 12511 | 600673 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | UBTF CL E G H | 7343 | 617672 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY | 617672 | C4540086 | OMIM | 1 | | 84 | 12511 | 600673 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | UBTF CL E G H | 7343 | 617672 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY | 617672 | C4540086 | OMIM | 1 | | 84 | 12511 | 600673 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | UBTF CL E G H | 7343 | 617672 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY | 617672 | C4540086 | OMIM | 1 | | 84 | 12511 | 600673 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | UBTF CL E G H | 7343 | 617672 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY | 617672 | C4540086 | OMIM | 1 | | 84 | 12511 | 600673 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | UBTF CL E G H | 7343 | 617672 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY | 617672 | C4540086 | OMIM | 1 | | 84 | 12511 | 600673 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | UBTF CL E G H | 7343 | 617672 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY | 617672 | C4540086 | OMIM | 1 | | 84 | 12511 | 600673 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | XPA CL E G H | 7507 | 278700 | Xeroderma pigmentosum, type 1 | 278700 | C0268135 | OMIM | 1 | | 321 | 12814 | 611153 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | XPA CL E G H | 7507 | 278700 | Xeroderma pigmentosum, type 1 | 278700 | C0268135 | OMIM | 1 | | 321 | 12814 | 611153 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | XPA CL E G H | 7507 | 278700 | Xeroderma pigmentosum, type 1 | 278700 | C0268135 | OMIM | 1 | | 321 | 12814 | 611153 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | XPA CL E G H | 7507 | 278700 | Xeroderma pigmentosum, type 1 | 278700 | C0268135 | OMIM | 1 | | 321 | 12814 | 611153 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | XPA CL E G H | 7507 | 278700 | Xeroderma pigmentosum, type 1 | 278700 | C0268135 | OMIM | 1 | | 321 | 12814 | 611153 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | XPA CL E G H | 7507 | 278700 | Xeroderma pigmentosum, type 1 | 278700 | C0268135 | OMIM | 1 | | 321 | 12814 | 611153 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | XPA CL E G H | 7507 | 278700 | Xeroderma pigmentosum, type 1 | 278700 | C0268135 | OMIM | 1 | | 321 | 12814 | 611153 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | ACTB CL E G H | 60 | 79107 | | | | ORPHA | 1 | | 512 | 132 | 102630 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | ADA2 CL E G H | 51816 | 182410 | Idiopathic livedo reticularis with systemic involvement | 182410 | C0282492 | OMIM | 1 | | 533 | 1839 | 607575 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | AP5Z1 CL E G H | 9907 | 613647 | Spastic paraplegia 48, autosomal recessive | 613647 | C3150901 | OMIM | 1 | | 1021 | 22197 | 613653 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | ARSA CL E G H | 410 | 250100 | Metachromatic leukodystrophy | 250100 | C0023522 | OMIM | 1 | | 1140 | 713 | 607574 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | ATP1A2 CL E G H | 477 | 104290 | Alternating hemiplegia of childhood 1 | 104290 | C3549447 | OMIM | 1 | | 1117 | 800 | 182340 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | ATP1A3 CL E G H | 478 | 614820 | Alternating hemiplegia of childhood 2 | 614820 | C3553788 | OMIM | 1 | | 993 | 801 | 182350 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 98 | 10560 | 607640 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 510 | 15832 | 606158 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 307 | 25443 | 614297 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | CHD2 CL E G H | 1106 | 1942 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1838 | 1917 | 602119 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | CLN8 CL E G H | 2055 | 1947 | | | | ORPHA | 1 | | 640 | 2079 | 607837 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | CLN8 CL E G H | 2055 | 610003 | Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | 610003 | C1864923 | OMIM | 1 | | 640 | 2079 | 607837 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 1 | | 281 | 29932 | 609855 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | CPLX1 CL E G H | 10815 | 352582 | | | | ORPHA | 1 | | 206 | 2309 | 605032 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | CSTB CL E G H | 1476 | 254800 | Unverricht-Lundborg syndrome | 254800 | C0751785 | OMIM | 1 | | 261 | 2482 | 601145 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 1292 | 26169 | 613129 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | CTSD CL E G H | 1509 | 610127 | Ceroid lipofuscinosis neuronal 10 | 610127 | C1864669 | OMIM | 1 | | 669 | 2529 | 116840 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 227 | 19347 | 610648 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | DCAF17 CL E G H | 80067 | 3464 | | | | ORPHA | 1 | | 366 | 25784 | 612515 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | DNM1 CL E G H | 1759 | 2382 | | | | ORPHA | 1 | | 765 | 2972 | 602377 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 1572 | 3434 | 126340 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 1645 | 3438 | 609413 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | FA2H CL E G H | 79152 | 171629 | | | | ORPHA | 1 | | 381 | 21197 | 611026 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | FA2H CL E G H | 79152 | 612319 | Spastic paraplegia 35 | 612319 | C3668943 | OMIM | 1 | | 381 | 21197 | 611026 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | GABRB3 CL E G H | 2562 | 2382 | | | | ORPHA | 1 | | 838 | 4083 | 137192 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | GNAS CL E G H | 2778 | 219080 | Cushing's syndrome | 219080 | C1857451 | OMIM | 1 | | 644 | 4392 | 139320 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | 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:0001268 | HP:0030219 | Semantic dementia | 3 | MAPK10 CL E G H | 5602 | 2382 | | | | ORPHA | 1 | | 70 | 6872 | 602897 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | MFSD8 CL E G H | 256471 | 610951 | Ceroid lipofuscinosis neuronal 7 | 610951 | C1838571 | OMIM | 1 | | 869 | 28486 | 611124 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | NBN CL E G H | 4683 | 647 | | | | ORPHA | 1 | | 3250 | 7652 | 602667 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | NRAS CL E G H | 4893 | 249400 | Neurocutaneous melanosis | 249400 | C0544862 | OMIM | 1 | | 281 | 7989 | 164790 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | PDE10A CL E G H | 10846 | 616922 | Striatal degeneration, autosomal dominant 2 | 616922 | C4310791 | OMIM | 1 | | 222 | 8772 | 610652 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | PDE11A CL E G H | 50940 | 610475 | Pigmented nodular adrenocortical disease, primary, 2 | 610475 | C1864851 | OMIM | 1 | | 203 | 8773 | 604961 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | PDGFB CL E G H | 5155 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 151 | 8800 | 190040 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | PDGFRB CL E G H | 5159 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 531 | 8804 | 173410 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | PLA2G6 CL E G H | 8398 | 610217 | Neurodegeneration with brain iron accumulation 2b | 610217 | C1857747 | OMIM | 1 | | 775 | 9039 | 603604 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | PRKAR1A CL E G H | 5573 | 610489 | Pigmented nodular adrenocortical disease, primary, 1 | 610489 | C1864846 | OMIM | 1 | | 1131 | 9388 | 188830 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | PRKCG CL E G H | 5582 | 605361 | Spinocerebellar ataxia 14 | 605361 | C1854369 | OMIM | 1 | | 323 | 9402 | 176980 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | PSAP CL E G H | 5660 | 249900 | Sphingolipid activator protein 1 deficiency | 249900 | C0268262 | OMIM | 1 | | 772 | 9498 | 176801 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | SCN1A CL E G H | 6323 | 2382 | | | | ORPHA | 1 | | 4030 | 10585 | 182389 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | SCN1A CL E G H | 6323 | 607208 | Severe myoclonic epilepsy in infancy | 607208 | C0751122 | OMIM | 1 | | 4030 | 10585 | 182389 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | SGPL1 CL E G H | 8879 | 617575 | Nephrotic syndrome type 14 | 617575 | C4539778 | OMIM | 1 | | 218 | 10817 | 603729 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | SLC20A2 CL E G H | 6575 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 337 | 10947 | 158378 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | SLC6A1 CL E G H | 6529 | 1942 | | | | ORPHA | 1 | | 809 | 11042 | 137165 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 193 | 11138 | 163890 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | SNORD118 CL E G H | 727676 | 614561 | Leukoencephalopathy, brain calcifications, and cysts | 614561 | C3281200 | OMIM | 1 | | 189 | 32952 | 616663 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | SPG11 CL E G H | 80208 | 2822 | Hyperinsulinism, focal | | | ORPHA | 1 | | 2625 | 11226 | 610844 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | SPG11 CL E G H | 80208 | 604360 | Spastic paraplegia 11, autosomal recessive | 604360 | C1858479 | OMIM | 1 | | 2625 | 11226 | 610844 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | SQSTM1 CL E G H | 8878 | 617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 617145 | C4310693 | OMIM | 1 | | 677 | 11280 | 601530 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | TBC1D24 CL E G H | 57465 | 352582 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | TBP CL E G H | 6908 | 98759 | | | | ORPHA | 1 | | 131 | 11588 | 600075 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | TIMM8A CL E G H | 1678 | 304700 | Mohr-Tranebjaerg syndrome | 304700 | C0796074 | OMIM | 1 | | 227 | 11817 | 300356 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | TREX1 CL E G H | 11277 | 247691 | | | | ORPHA | 1 | | 418 | 12269 | 606609 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | UBTF CL E G H | 7343 | 617672 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY | 617672 | C4540086 | OMIM | 1 | | 84 | 12511 | 600673 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | XPA CL E G H | 7507 | 278700 | Xeroderma pigmentosum, type 1 | 278700 | C0268135 | OMIM | 1 | | 321 | 12814 | 611153 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 690 | 567 | 602166 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 0 | | 331 | 15984 | 606350 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 89 | 29561 | 611647 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 229 | 851 | 607027 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | ATXN7 CL E G H | 6314 | 164500 | Spinocerebellar ataxia 7 | 164500 | C0752125 | OMIM | 0 | | 98 | 10560 | 607640 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 3248 | 1388 | 601011 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 0 | | 645 | 2092 | 118955 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 0 | | 306 | 19701 | 300724 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | COL18A1 CL E G H | 80781 | 267750 | Knobloch syndrome 1 | 267750 | C1849409 | OMIM | 0 | | 2717 | 2195 | 120328 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 0 | | 668 | 13760 | 606323 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 0 | | 434 | 20603 | 608172 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 0 | | 765 | 2972 | 602377 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 0 | | 1196 | 2976 | 126375 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 0 | | 575 | 3192 | 602959 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 0 | | 259 | 3668 | 601513 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 0 | | 494 | 4082 | 600232 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 0 | | 823 | 4588 | 602717 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | GRN CL E G H | 2896 | 614706 | Ceroid lipofuscinosis, neuronal, 11 | 614706 | C3539123 | OMIM | 0 | | 594 | 4601 | 138945 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 0 | | 796 | 4845 | 602780 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 0 | | 401 | 6220 | 176262 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 0 | | 635 | 6231 | 600397 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | KCNC1 CL E G H | 3746 | 616187 | Epilepsy, progressive myoclonic 7 | 616187 | C4015420 | OMIM | 0 | | 391 | 6233 | 176258 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 0 | | 1222 | 16877 | 608507 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 0 | | 221 | 24539 | 611623 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 0 | | 509 | 8032 | 600456 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 0 | | 326 | 21042 | 610463 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 0 | | 351 | 9314 | 114105 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | PRDM8 CL E G H | 56978 | 324290 | | | | ORPHA | 0 | | 439 | 13993 | 616639 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 0 | | 1420 | 10590 | 182391 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 0 | | 1799 | 10596 | 600702 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 0 | | 685 | 23089 | 608305 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 0 | | 359 | 10940 | 600300 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 0 | | 1017 | 11444 | 602926 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 0 | | 1335 | 11497 | 603384 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | SYNJ1 CL E G H | 8867 | 615530 | Parkinson disease 20, early-onset | 615530 | C3809824 | OMIM | 0 | | 1315 | 11503 | 604297 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 0 | | 2862 | 29040 | 615463 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 0 | | 208 | 29947 | 608112 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 0 | | 389 | 12404 | 600415 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 0 | | 223 | 23230 | 610552 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 0 | | 828 | 23594 | 608879 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 0 | | 1102 | 12799 | 605131 |
HP:0001268 | HP:0001268 | Mental deterioration | 0 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 0 | | 189 | 12852 | 605356 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0001268 | HP:0000726 | Dementia | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 690 | 567 | 602166 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 690 | 567 | 602166 |
HP:0001268 | HP:0000726 | Dementia | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 690 | 567 | 602166 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 690 | 567 | 602166 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 690 | 567 | 602166 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 0 | | 331 | 15984 | 606350 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 0 | | 331 | 15984 | 606350 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 0 | | 331 | 15984 | 606350 |
HP:0001268 | HP:0000726 | Dementia | 1 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 0 | | 331 | 15984 | 606350 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 0 | | 331 | 15984 | 606350 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 89 | 29561 | 611647 |
HP:0001268 | HP:0000726 | Dementia | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 89 | 29561 | 611647 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 89 | 29561 | 611647 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 89 | 29561 | 611647 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 89 | 29561 | 611647 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 229 | 851 | 607027 |
HP:0001268 | HP:0000726 | Dementia | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 229 | 851 | 607027 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 229 | 851 | 607027 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 229 | 851 | 607027 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 229 | 851 | 607027 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | ATXN7 CL E G H | 6314 | 164500 | Spinocerebellar ataxia 7 | 164500 | C0752125 | OMIM | 0 | | 98 | 10560 | 607640 |
HP:0001268 | HP:0000726 | Dementia | 1 | ATXN7 CL E G H | 6314 | 164500 | Spinocerebellar ataxia 7 | 164500 | C0752125 | OMIM | 0 | | 98 | 10560 | 607640 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | ATXN7 CL E G H | 6314 | 164500 | Spinocerebellar ataxia 7 | 164500 | C0752125 | OMIM | 0 | | 98 | 10560 | 607640 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | ATXN7 CL E G H | 6314 | 164500 | Spinocerebellar ataxia 7 | 164500 | C0752125 | OMIM | 0 | | 98 | 10560 | 607640 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | ATXN7 CL E G H | 6314 | 164500 | Spinocerebellar ataxia 7 | 164500 | C0752125 | OMIM | 0 | | 98 | 10560 | 607640 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 3248 | 1388 | 601011 |
HP:0001268 | HP:0000726 | Dementia | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 3248 | 1388 | 601011 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 3248 | 1388 | 601011 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 3248 | 1388 | 601011 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 3248 | 1388 | 601011 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 0 | | 645 | 2092 | 118955 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 0 | | 645 | 2092 | 118955 |
HP:0001268 | HP:0000726 | Dementia | 1 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 0 | | 645 | 2092 | 118955 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 0 | | 645 | 2092 | 118955 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 0 | | 645 | 2092 | 118955 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 0 | | 306 | 19701 | 300724 |
HP:0001268 | HP:0000726 | Dementia | 1 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 0 | | 306 | 19701 | 300724 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 0 | | 306 | 19701 | 300724 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 0 | | 306 | 19701 | 300724 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 0 | | 306 | 19701 | 300724 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | COL18A1 CL E G H | 80781 | 267750 | Knobloch syndrome 1 | 267750 | C1849409 | OMIM | 0 | | 2717 | 2195 | 120328 |
HP:0001268 | HP:0000726 | Dementia | 1 | COL18A1 CL E G H | 80781 | 267750 | Knobloch syndrome 1 | 267750 | C1849409 | OMIM | 0 | | 2717 | 2195 | 120328 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | COL18A1 CL E G H | 80781 | 267750 | Knobloch syndrome 1 | 267750 | C1849409 | OMIM | 0 | | 2717 | 2195 | 120328 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | COL18A1 CL E G H | 80781 | 267750 | Knobloch syndrome 1 | 267750 | C1849409 | OMIM | 0 | | 2717 | 2195 | 120328 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | COL18A1 CL E G H | 80781 | 267750 | Knobloch syndrome 1 | 267750 | C1849409 | OMIM | 0 | | 2717 | 2195 | 120328 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 0 | | 668 | 13760 | 606323 |
HP:0001268 | HP:0000726 | Dementia | 1 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 0 | | 668 | 13760 | 606323 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 0 | | 668 | 13760 | 606323 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 0 | | 668 | 13760 | 606323 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 0 | | 668 | 13760 | 606323 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 0 | | 434 | 20603 | 608172 |
HP:0001268 | HP:0000726 | Dementia | 1 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 0 | | 434 | 20603 | 608172 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 0 | | 434 | 20603 | 608172 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 0 | | 434 | 20603 | 608172 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 0 | | 434 | 20603 | 608172 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 0 | | 765 | 2972 | 602377 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 0 | | 765 | 2972 | 602377 |
HP:0001268 | HP:0000726 | Dementia | 1 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 0 | | 765 | 2972 | 602377 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 0 | | 765 | 2972 | 602377 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 0 | | 765 | 2972 | 602377 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 0 | | 1196 | 2976 | 126375 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 0 | | 1196 | 2976 | 126375 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 0 | | 1196 | 2976 | 126375 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 0 | | 1196 | 2976 | 126375 |
HP:0001268 | HP:0000726 | Dementia | 1 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 0 | | 1196 | 2976 | 126375 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 0 | | 575 | 3192 | 602959 |
HP:0001268 | HP:0000726 | Dementia | 1 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 0 | | 575 | 3192 | 602959 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 0 | | 575 | 3192 | 602959 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 0 | | 575 | 3192 | 602959 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 0 | | 575 | 3192 | 602959 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 0 | | 259 | 3668 | 601513 |
HP:0001268 | HP:0000726 | Dementia | 1 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 0 | | 259 | 3668 | 601513 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 0 | | 259 | 3668 | 601513 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 0 | | 259 | 3668 | 601513 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 0 | | 259 | 3668 | 601513 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 0 | | 494 | 4082 | 600232 |
HP:0001268 | HP:0000726 | Dementia | 1 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 0 | | 494 | 4082 | 600232 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 0 | | 494 | 4082 | 600232 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 0 | | 494 | 4082 | 600232 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 0 | | 494 | 4082 | 600232 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 0 | | 823 | 4588 | 602717 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 0 | | 823 | 4588 | 602717 |
HP:0001268 | HP:0000726 | Dementia | 1 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 0 | | 823 | 4588 | 602717 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 0 | | 823 | 4588 | 602717 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 0 | | 823 | 4588 | 602717 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | GRN CL E G H | 2896 | 614706 | Ceroid lipofuscinosis, neuronal, 11 | 614706 | C3539123 | OMIM | 0 | | 594 | 4601 | 138945 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | GRN CL E G H | 2896 | 614706 | Ceroid lipofuscinosis, neuronal, 11 | 614706 | C3539123 | OMIM | 0 | | 594 | 4601 | 138945 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | GRN CL E G H | 2896 | 614706 | Ceroid lipofuscinosis, neuronal, 11 | 614706 | C3539123 | OMIM | 0 | | 594 | 4601 | 138945 |
HP:0001268 | HP:0000726 | Dementia | 1 | GRN CL E G H | 2896 | 614706 | Ceroid lipofuscinosis, neuronal, 11 | 614706 | C3539123 | OMIM | 0 | | 594 | 4601 | 138945 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | GRN CL E G H | 2896 | 614706 | Ceroid lipofuscinosis, neuronal, 11 | 614706 | C3539123 | OMIM | 0 | | 594 | 4601 | 138945 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 0 | | 796 | 4845 | 602780 |
HP:0001268 | HP:0000726 | Dementia | 1 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 0 | | 796 | 4845 | 602780 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 0 | | 796 | 4845 | 602780 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 0 | | 796 | 4845 | 602780 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 0 | | 796 | 4845 | 602780 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 0 | | 401 | 6220 | 176262 |
HP:0001268 | HP:0000726 | Dementia | 1 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 0 | | 401 | 6220 | 176262 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 0 | | 401 | 6220 | 176262 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 0 | | 401 | 6220 | 176262 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 0 | | 401 | 6220 | 176262 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 0 | | 635 | 6231 | 600397 |
HP:0001268 | HP:0000726 | Dementia | 1 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 0 | | 635 | 6231 | 600397 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 0 | | 635 | 6231 | 600397 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 0 | | 635 | 6231 | 600397 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 0 | | 635 | 6231 | 600397 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | KCNC1 CL E G H | 3746 | 616187 | Epilepsy, progressive myoclonic 7 | 616187 | C4015420 | OMIM | 0 | | 391 | 6233 | 176258 |
HP:0001268 | HP:0000726 | Dementia | 1 | KCNC1 CL E G H | 3746 | 616187 | Epilepsy, progressive myoclonic 7 | 616187 | C4015420 | OMIM | 0 | | 391 | 6233 | 176258 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | KCNC1 CL E G H | 3746 | 616187 | Epilepsy, progressive myoclonic 7 | 616187 | C4015420 | OMIM | 0 | | 391 | 6233 | 176258 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | KCNC1 CL E G H | 3746 | 616187 | Epilepsy, progressive myoclonic 7 | 616187 | C4015420 | OMIM | 0 | | 391 | 6233 | 176258 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | KCNC1 CL E G H | 3746 | 616187 | Epilepsy, progressive myoclonic 7 | 616187 | C4015420 | OMIM | 0 | | 391 | 6233 | 176258 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 0 | | 1222 | 16877 | 608507 |
HP:0001268 | HP:0000726 | Dementia | 1 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 0 | | 1222 | 16877 | 608507 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 0 | | 1222 | 16877 | 608507 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 0 | | 1222 | 16877 | 608507 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 0 | | 1222 | 16877 | 608507 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 0 | | 221 | 24539 | 611623 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 0 | | 221 | 24539 | 611623 |
HP:0001268 | HP:0000726 | Dementia | 1 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 0 | | 221 | 24539 | 611623 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 0 | | 221 | 24539 | 611623 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 0 | | 221 | 24539 | 611623 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 0 | | 509 | 8032 | 600456 |
HP:0001268 | HP:0000726 | Dementia | 1 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 0 | | 509 | 8032 | 600456 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 0 | | 509 | 8032 | 600456 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 0 | | 509 | 8032 | 600456 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 0 | | 509 | 8032 | 600456 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 0 | | 326 | 21042 | 610463 |
HP:0001268 | HP:0000726 | Dementia | 1 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 0 | | 326 | 21042 | 610463 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 0 | | 326 | 21042 | 610463 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 0 | | 326 | 21042 | 610463 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 0 | | 326 | 21042 | 610463 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 0 | | 351 | 9314 | 114105 |
HP:0001268 | HP:0000726 | Dementia | 1 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 0 | | 351 | 9314 | 114105 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 0 | | 351 | 9314 | 114105 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 0 | | 351 | 9314 | 114105 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 0 | | 351 | 9314 | 114105 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | PRDM8 CL E G H | 56978 | 324290 | | | | ORPHA | 0 | | 439 | 13993 | 616639 |
HP:0001268 | HP:0000726 | Dementia | 1 | PRDM8 CL E G H | 56978 | 324290 | | | | ORPHA | 0 | | 439 | 13993 | 616639 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | PRDM8 CL E G H | 56978 | 324290 | | | | ORPHA | 0 | | 439 | 13993 | 616639 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | PRDM8 CL E G H | 56978 | 324290 | | | | ORPHA | 0 | | 439 | 13993 | 616639 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | PRDM8 CL E G H | 56978 | 324290 | | | | ORPHA | 0 | | 439 | 13993 | 616639 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 0 | | 1420 | 10590 | 182391 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 0 | | 1420 | 10590 | 182391 |
HP:0001268 | HP:0000726 | Dementia | 1 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 0 | | 1420 | 10590 | 182391 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 0 | | 1420 | 10590 | 182391 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 0 | | 1420 | 10590 | 182391 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 0 | | 1799 | 10596 | 600702 |
HP:0001268 | HP:0000726 | Dementia | 1 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 0 | | 1799 | 10596 | 600702 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 0 | | 1799 | 10596 | 600702 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 0 | | 1799 | 10596 | 600702 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 0 | | 1799 | 10596 | 600702 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 0 | | 685 | 23089 | 608305 |
HP:0001268 | HP:0000726 | Dementia | 1 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 0 | | 685 | 23089 | 608305 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 0 | | 685 | 23089 | 608305 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 0 | | 685 | 23089 | 608305 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 0 | | 685 | 23089 | 608305 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 0 | | 359 | 10940 | 600300 |
HP:0001268 | HP:0000726 | Dementia | 1 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 0 | | 359 | 10940 | 600300 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 0 | | 359 | 10940 | 600300 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 0 | | 359 | 10940 | 600300 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 0 | | 359 | 10940 | 600300 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 0 | | 1017 | 11444 | 602926 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 0 | | 1017 | 11444 | 602926 |
HP:0001268 | HP:0000726 | Dementia | 1 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 0 | | 1017 | 11444 | 602926 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 0 | | 1017 | 11444 | 602926 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 0 | | 1017 | 11444 | 602926 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 0 | | 1335 | 11497 | 603384 |
HP:0001268 | HP:0000726 | Dementia | 1 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 0 | | 1335 | 11497 | 603384 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 0 | | 1335 | 11497 | 603384 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 0 | | 1335 | 11497 | 603384 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 0 | | 1335 | 11497 | 603384 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001268 | HP:0000726 | Dementia | 1 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | SYNJ1 CL E G H | 8867 | 615530 | Parkinson disease 20, early-onset | 615530 | C3809824 | OMIM | 0 | | 1315 | 11503 | 604297 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | SYNJ1 CL E G H | 8867 | 615530 | Parkinson disease 20, early-onset | 615530 | C3809824 | OMIM | 0 | | 1315 | 11503 | 604297 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | SYNJ1 CL E G H | 8867 | 615530 | Parkinson disease 20, early-onset | 615530 | C3809824 | OMIM | 0 | | 1315 | 11503 | 604297 |
HP:0001268 | HP:0000726 | Dementia | 1 | SYNJ1 CL E G H | 8867 | 615530 | Parkinson disease 20, early-onset | 615530 | C3809824 | OMIM | 0 | | 1315 | 11503 | 604297 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | SYNJ1 CL E G H | 8867 | 615530 | Parkinson disease 20, early-onset | 615530 | C3809824 | OMIM | 0 | | 1315 | 11503 | 604297 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 0 | | 2862 | 29040 | 615463 |
HP:0001268 | HP:0000726 | Dementia | 1 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 0 | | 2862 | 29040 | 615463 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 0 | | 2862 | 29040 | 615463 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 0 | | 2862 | 29040 | 615463 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 0 | | 2862 | 29040 | 615463 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 0 | | 208 | 29947 | 608112 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 0 | | 208 | 29947 | 608112 |
HP:0001268 | HP:0000726 | Dementia | 1 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 0 | | 208 | 29947 | 608112 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 0 | | 208 | 29947 | 608112 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 0 | | 208 | 29947 | 608112 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 0 | | 389 | 12404 | 600415 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 0 | | 389 | 12404 | 600415 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 0 | | 389 | 12404 | 600415 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 0 | | 389 | 12404 | 600415 |
HP:0001268 | HP:0000726 | Dementia | 1 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 0 | | 389 | 12404 | 600415 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 0 | | 223 | 23230 | 610552 |
HP:0001268 | HP:0000726 | Dementia | 1 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 0 | | 223 | 23230 | 610552 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 0 | | 223 | 23230 | 610552 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 0 | | 223 | 23230 | 610552 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 0 | | 223 | 23230 | 610552 |
HP:0001268 | HP:0000726 | Dementia | 1 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 0 | | 828 | 23594 | 608879 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 0 | | 828 | 23594 | 608879 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 0 | | 828 | 23594 | 608879 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 0 | | 828 | 23594 | 608879 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 0 | | 828 | 23594 | 608879 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 0 | | 1102 | 12799 | 605131 |
HP:0001268 | HP:0000726 | Dementia | 1 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 0 | | 1102 | 12799 | 605131 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 0 | | 1102 | 12799 | 605131 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 0 | | 1102 | 12799 | 605131 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 0 | | 1102 | 12799 | 605131 |
HP:0001268 | HP:0007086 | Social and occupational deterioration | 1 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 0 | | 189 | 12852 | 605356 |
HP:0001268 | HP:0000726 | Dementia | 1 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 0 | | 189 | 12852 | 605356 |
HP:0001268 | HP:0002344 | Progressive neurologic deterioration | 1 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 0 | | 189 | 12852 | 605356 |
HP:0001268 | HP:0002361 | Psychomotor deterioration | 1 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 0 | | 189 | 12852 | 605356 |
HP:0001268 | HP:0002333 | Motor deterioration | 1 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 0 | | 189 | 12852 | 605356 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 690 | 567 | 602166 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 690 | 567 | 602166 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 690 | 567 | 602166 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 690 | 567 | 602166 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 690 | 567 | 602166 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 690 | 567 | 602166 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 690 | 567 | 602166 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 0 | | 331 | 15984 | 606350 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 0 | | 331 | 15984 | 606350 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 0 | | 331 | 15984 | 606350 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 0 | | 331 | 15984 | 606350 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 0 | | 331 | 15984 | 606350 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 0 | | 331 | 15984 | 606350 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 0 | | 331 | 15984 | 606350 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 89 | 29561 | 611647 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 89 | 29561 | 611647 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 89 | 29561 | 611647 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 89 | 29561 | 611647 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 89 | 29561 | 611647 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 89 | 29561 | 611647 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 89 | 29561 | 611647 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 229 | 851 | 607027 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 229 | 851 | 607027 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 229 | 851 | 607027 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 229 | 851 | 607027 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 229 | 851 | 607027 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 229 | 851 | 607027 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 229 | 851 | 607027 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | ATXN7 CL E G H | 6314 | 164500 | Spinocerebellar ataxia 7 | 164500 | C0752125 | OMIM | 0 | | 98 | 10560 | 607640 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | ATXN7 CL E G H | 6314 | 164500 | Spinocerebellar ataxia 7 | 164500 | C0752125 | OMIM | 0 | | 98 | 10560 | 607640 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | ATXN7 CL E G H | 6314 | 164500 | Spinocerebellar ataxia 7 | 164500 | C0752125 | OMIM | 0 | | 98 | 10560 | 607640 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | ATXN7 CL E G H | 6314 | 164500 | Spinocerebellar ataxia 7 | 164500 | C0752125 | OMIM | 0 | | 98 | 10560 | 607640 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | ATXN7 CL E G H | 6314 | 164500 | Spinocerebellar ataxia 7 | 164500 | C0752125 | OMIM | 0 | | 98 | 10560 | 607640 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | ATXN7 CL E G H | 6314 | 164500 | Spinocerebellar ataxia 7 | 164500 | C0752125 | OMIM | 0 | | 98 | 10560 | 607640 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | ATXN7 CL E G H | 6314 | 164500 | Spinocerebellar ataxia 7 | 164500 | C0752125 | OMIM | 0 | | 98 | 10560 | 607640 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 3248 | 1388 | 601011 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 3248 | 1388 | 601011 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 3248 | 1388 | 601011 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 3248 | 1388 | 601011 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 3248 | 1388 | 601011 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 3248 | 1388 | 601011 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 3248 | 1388 | 601011 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 0 | | 645 | 2092 | 118955 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 0 | | 645 | 2092 | 118955 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 0 | | 645 | 2092 | 118955 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 0 | | 645 | 2092 | 118955 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 0 | | 645 | 2092 | 118955 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 0 | | 645 | 2092 | 118955 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 0 | | 645 | 2092 | 118955 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 0 | | 306 | 19701 | 300724 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 0 | | 306 | 19701 | 300724 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 0 | | 306 | 19701 | 300724 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 0 | | 306 | 19701 | 300724 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 0 | | 306 | 19701 | 300724 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 0 | | 306 | 19701 | 300724 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 0 | | 306 | 19701 | 300724 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | COL18A1 CL E G H | 80781 | 267750 | Knobloch syndrome 1 | 267750 | C1849409 | OMIM | 0 | | 2717 | 2195 | 120328 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | COL18A1 CL E G H | 80781 | 267750 | Knobloch syndrome 1 | 267750 | C1849409 | OMIM | 0 | | 2717 | 2195 | 120328 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | COL18A1 CL E G H | 80781 | 267750 | Knobloch syndrome 1 | 267750 | C1849409 | OMIM | 0 | | 2717 | 2195 | 120328 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | COL18A1 CL E G H | 80781 | 267750 | Knobloch syndrome 1 | 267750 | C1849409 | OMIM | 0 | | 2717 | 2195 | 120328 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | COL18A1 CL E G H | 80781 | 267750 | Knobloch syndrome 1 | 267750 | C1849409 | OMIM | 0 | | 2717 | 2195 | 120328 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | COL18A1 CL E G H | 80781 | 267750 | Knobloch syndrome 1 | 267750 | C1849409 | OMIM | 0 | | 2717 | 2195 | 120328 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | COL18A1 CL E G H | 80781 | 267750 | Knobloch syndrome 1 | 267750 | C1849409 | OMIM | 0 | | 2717 | 2195 | 120328 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 0 | | 668 | 13760 | 606323 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 0 | | 668 | 13760 | 606323 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 0 | | 668 | 13760 | 606323 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 0 | | 668 | 13760 | 606323 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 0 | | 668 | 13760 | 606323 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 0 | | 668 | 13760 | 606323 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 0 | | 668 | 13760 | 606323 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 0 | | 434 | 20603 | 608172 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 0 | | 434 | 20603 | 608172 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 0 | | 434 | 20603 | 608172 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 0 | | 434 | 20603 | 608172 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 0 | | 434 | 20603 | 608172 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 0 | | 434 | 20603 | 608172 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 0 | | 434 | 20603 | 608172 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 0 | | 765 | 2972 | 602377 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 0 | | 765 | 2972 | 602377 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 0 | | 765 | 2972 | 602377 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 0 | | 765 | 2972 | 602377 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 0 | | 765 | 2972 | 602377 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 0 | | 765 | 2972 | 602377 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 0 | | 765 | 2972 | 602377 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 0 | | 1196 | 2976 | 126375 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 0 | | 1196 | 2976 | 126375 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 0 | | 1196 | 2976 | 126375 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 0 | | 1196 | 2976 | 126375 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 0 | | 1196 | 2976 | 126375 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 0 | | 1196 | 2976 | 126375 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 0 | | 1196 | 2976 | 126375 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 0 | | 575 | 3192 | 602959 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 0 | | 575 | 3192 | 602959 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 0 | | 575 | 3192 | 602959 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 0 | | 575 | 3192 | 602959 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 0 | | 575 | 3192 | 602959 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 0 | | 575 | 3192 | 602959 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 0 | | 575 | 3192 | 602959 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 0 | | 259 | 3668 | 601513 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 0 | | 259 | 3668 | 601513 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 0 | | 259 | 3668 | 601513 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 0 | | 259 | 3668 | 601513 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 0 | | 259 | 3668 | 601513 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 0 | | 259 | 3668 | 601513 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 0 | | 259 | 3668 | 601513 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 0 | | 494 | 4082 | 600232 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 0 | | 494 | 4082 | 600232 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 0 | | 494 | 4082 | 600232 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 0 | | 494 | 4082 | 600232 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 0 | | 494 | 4082 | 600232 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 0 | | 494 | 4082 | 600232 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 0 | | 494 | 4082 | 600232 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 0 | | 823 | 4588 | 602717 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 0 | | 823 | 4588 | 602717 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 0 | | 823 | 4588 | 602717 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 0 | | 823 | 4588 | 602717 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 0 | | 823 | 4588 | 602717 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 0 | | 823 | 4588 | 602717 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 0 | | 823 | 4588 | 602717 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | GRN CL E G H | 2896 | 614706 | Ceroid lipofuscinosis, neuronal, 11 | 614706 | C3539123 | OMIM | 0 | | 594 | 4601 | 138945 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | GRN CL E G H | 2896 | 614706 | Ceroid lipofuscinosis, neuronal, 11 | 614706 | C3539123 | OMIM | 0 | | 594 | 4601 | 138945 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | GRN CL E G H | 2896 | 614706 | Ceroid lipofuscinosis, neuronal, 11 | 614706 | C3539123 | OMIM | 0 | | 594 | 4601 | 138945 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | GRN CL E G H | 2896 | 614706 | Ceroid lipofuscinosis, neuronal, 11 | 614706 | C3539123 | OMIM | 0 | | 594 | 4601 | 138945 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | GRN CL E G H | 2896 | 614706 | Ceroid lipofuscinosis, neuronal, 11 | 614706 | C3539123 | OMIM | 0 | | 594 | 4601 | 138945 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | GRN CL E G H | 2896 | 614706 | Ceroid lipofuscinosis, neuronal, 11 | 614706 | C3539123 | OMIM | 0 | | 594 | 4601 | 138945 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | GRN CL E G H | 2896 | 614706 | Ceroid lipofuscinosis, neuronal, 11 | 614706 | C3539123 | OMIM | 0 | | 594 | 4601 | 138945 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 0 | | 796 | 4845 | 602780 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 0 | | 796 | 4845 | 602780 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 0 | | 796 | 4845 | 602780 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 0 | | 796 | 4845 | 602780 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 0 | | 796 | 4845 | 602780 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 0 | | 796 | 4845 | 602780 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 0 | | 796 | 4845 | 602780 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 0 | | 401 | 6220 | 176262 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 0 | | 401 | 6220 | 176262 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 0 | | 401 | 6220 | 176262 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 0 | | 401 | 6220 | 176262 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 0 | | 401 | 6220 | 176262 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 0 | | 401 | 6220 | 176262 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 0 | | 401 | 6220 | 176262 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 0 | | 635 | 6231 | 600397 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 0 | | 635 | 6231 | 600397 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 0 | | 635 | 6231 | 600397 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 0 | | 635 | 6231 | 600397 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 0 | | 635 | 6231 | 600397 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 0 | | 635 | 6231 | 600397 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 0 | | 635 | 6231 | 600397 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | KCNC1 CL E G H | 3746 | 616187 | Epilepsy, progressive myoclonic 7 | 616187 | C4015420 | OMIM | 0 | | 391 | 6233 | 176258 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | KCNC1 CL E G H | 3746 | 616187 | Epilepsy, progressive myoclonic 7 | 616187 | C4015420 | OMIM | 0 | | 391 | 6233 | 176258 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | KCNC1 CL E G H | 3746 | 616187 | Epilepsy, progressive myoclonic 7 | 616187 | C4015420 | OMIM | 0 | | 391 | 6233 | 176258 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | KCNC1 CL E G H | 3746 | 616187 | Epilepsy, progressive myoclonic 7 | 616187 | C4015420 | OMIM | 0 | | 391 | 6233 | 176258 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | KCNC1 CL E G H | 3746 | 616187 | Epilepsy, progressive myoclonic 7 | 616187 | C4015420 | OMIM | 0 | | 391 | 6233 | 176258 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | KCNC1 CL E G H | 3746 | 616187 | Epilepsy, progressive myoclonic 7 | 616187 | C4015420 | OMIM | 0 | | 391 | 6233 | 176258 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | KCNC1 CL E G H | 3746 | 616187 | Epilepsy, progressive myoclonic 7 | 616187 | C4015420 | OMIM | 0 | | 391 | 6233 | 176258 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 0 | | 1222 | 16877 | 608507 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 0 | | 1222 | 16877 | 608507 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 0 | | 1222 | 16877 | 608507 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 0 | | 1222 | 16877 | 608507 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 0 | | 1222 | 16877 | 608507 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 0 | | 1222 | 16877 | 608507 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 0 | | 1222 | 16877 | 608507 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 0 | | 221 | 24539 | 611623 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 0 | | 221 | 24539 | 611623 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 0 | | 221 | 24539 | 611623 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 0 | | 221 | 24539 | 611623 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 0 | | 221 | 24539 | 611623 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 0 | | 221 | 24539 | 611623 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 0 | | 221 | 24539 | 611623 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 0 | | 509 | 8032 | 600456 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 0 | | 509 | 8032 | 600456 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 0 | | 509 | 8032 | 600456 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 0 | | 509 | 8032 | 600456 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 0 | | 509 | 8032 | 600456 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 0 | | 509 | 8032 | 600456 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 0 | | 509 | 8032 | 600456 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 0 | | 326 | 21042 | 610463 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 0 | | 326 | 21042 | 610463 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 0 | | 326 | 21042 | 610463 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 0 | | 326 | 21042 | 610463 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 0 | | 326 | 21042 | 610463 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 0 | | 326 | 21042 | 610463 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 0 | | 326 | 21042 | 610463 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 0 | | 351 | 9314 | 114105 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 0 | | 351 | 9314 | 114105 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 0 | | 351 | 9314 | 114105 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 0 | | 351 | 9314 | 114105 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 0 | | 351 | 9314 | 114105 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 0 | | 351 | 9314 | 114105 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 0 | | 351 | 9314 | 114105 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | PRDM8 CL E G H | 56978 | 324290 | | | | ORPHA | 0 | | 439 | 13993 | 616639 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | PRDM8 CL E G H | 56978 | 324290 | | | | ORPHA | 0 | | 439 | 13993 | 616639 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | PRDM8 CL E G H | 56978 | 324290 | | | | ORPHA | 0 | | 439 | 13993 | 616639 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | PRDM8 CL E G H | 56978 | 324290 | | | | ORPHA | 0 | | 439 | 13993 | 616639 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | PRDM8 CL E G H | 56978 | 324290 | | | | ORPHA | 0 | | 439 | 13993 | 616639 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | PRDM8 CL E G H | 56978 | 324290 | | | | ORPHA | 0 | | 439 | 13993 | 616639 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | PRDM8 CL E G H | 56978 | 324290 | | | | ORPHA | 0 | | 439 | 13993 | 616639 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 0 | | 1420 | 10590 | 182391 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 0 | | 1420 | 10590 | 182391 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 0 | | 1420 | 10590 | 182391 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 0 | | 1420 | 10590 | 182391 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 0 | | 1420 | 10590 | 182391 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 0 | | 1420 | 10590 | 182391 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 0 | | 1420 | 10590 | 182391 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 0 | | 1799 | 10596 | 600702 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 0 | | 1799 | 10596 | 600702 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 0 | | 1799 | 10596 | 600702 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 0 | | 1799 | 10596 | 600702 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 0 | | 1799 | 10596 | 600702 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 0 | | 1799 | 10596 | 600702 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 0 | | 1799 | 10596 | 600702 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 0 | | 685 | 23089 | 608305 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 0 | | 685 | 23089 | 608305 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 0 | | 685 | 23089 | 608305 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 0 | | 685 | 23089 | 608305 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 0 | | 685 | 23089 | 608305 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 0 | | 685 | 23089 | 608305 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 0 | | 685 | 23089 | 608305 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 0 | | 359 | 10940 | 600300 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 0 | | 359 | 10940 | 600300 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 0 | | 359 | 10940 | 600300 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 0 | | 359 | 10940 | 600300 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 0 | | 359 | 10940 | 600300 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 0 | | 359 | 10940 | 600300 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 0 | | 359 | 10940 | 600300 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 0 | | 1017 | 11444 | 602926 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 0 | | 1017 | 11444 | 602926 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 0 | | 1017 | 11444 | 602926 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 0 | | 1017 | 11444 | 602926 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 0 | | 1017 | 11444 | 602926 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 0 | | 1017 | 11444 | 602926 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 0 | | 1017 | 11444 | 602926 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 0 | | 1335 | 11497 | 603384 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 0 | | 1335 | 11497 | 603384 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 0 | | 1335 | 11497 | 603384 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 0 | | 1335 | 11497 | 603384 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 0 | | 1335 | 11497 | 603384 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 0 | | 1335 | 11497 | 603384 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 0 | | 1335 | 11497 | 603384 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | SYNJ1 CL E G H | 8867 | 615530 | Parkinson disease 20, early-onset | 615530 | C3809824 | OMIM | 0 | | 1315 | 11503 | 604297 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | SYNJ1 CL E G H | 8867 | 615530 | Parkinson disease 20, early-onset | 615530 | C3809824 | OMIM | 0 | | 1315 | 11503 | 604297 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | SYNJ1 CL E G H | 8867 | 615530 | Parkinson disease 20, early-onset | 615530 | C3809824 | OMIM | 0 | | 1315 | 11503 | 604297 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | SYNJ1 CL E G H | 8867 | 615530 | Parkinson disease 20, early-onset | 615530 | C3809824 | OMIM | 0 | | 1315 | 11503 | 604297 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | SYNJ1 CL E G H | 8867 | 615530 | Parkinson disease 20, early-onset | 615530 | C3809824 | OMIM | 0 | | 1315 | 11503 | 604297 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | SYNJ1 CL E G H | 8867 | 615530 | Parkinson disease 20, early-onset | 615530 | C3809824 | OMIM | 0 | | 1315 | 11503 | 604297 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | SYNJ1 CL E G H | 8867 | 615530 | Parkinson disease 20, early-onset | 615530 | C3809824 | OMIM | 0 | | 1315 | 11503 | 604297 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 0 | | 2862 | 29040 | 615463 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 0 | | 2862 | 29040 | 615463 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 0 | | 2862 | 29040 | 615463 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 0 | | 2862 | 29040 | 615463 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 0 | | 2862 | 29040 | 615463 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 0 | | 2862 | 29040 | 615463 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 0 | | 2862 | 29040 | 615463 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 0 | | 208 | 29947 | 608112 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 0 | | 208 | 29947 | 608112 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 0 | | 208 | 29947 | 608112 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 0 | | 208 | 29947 | 608112 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 0 | | 208 | 29947 | 608112 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 0 | | 208 | 29947 | 608112 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 0 | | 208 | 29947 | 608112 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 0 | | 389 | 12404 | 600415 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 0 | | 389 | 12404 | 600415 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 0 | | 389 | 12404 | 600415 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 0 | | 389 | 12404 | 600415 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 0 | | 389 | 12404 | 600415 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 0 | | 389 | 12404 | 600415 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 0 | | 389 | 12404 | 600415 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 0 | | 223 | 23230 | 610552 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 0 | | 223 | 23230 | 610552 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 0 | | 223 | 23230 | 610552 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 0 | | 223 | 23230 | 610552 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 0 | | 223 | 23230 | 610552 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 0 | | 223 | 23230 | 610552 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 0 | | 223 | 23230 | 610552 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 0 | | 828 | 23594 | 608879 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 0 | | 828 | 23594 | 608879 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 0 | | 828 | 23594 | 608879 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 0 | | 828 | 23594 | 608879 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 0 | | 828 | 23594 | 608879 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 0 | | 828 | 23594 | 608879 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 0 | | 828 | 23594 | 608879 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 0 | | 1102 | 12799 | 605131 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 0 | | 1102 | 12799 | 605131 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 0 | | 1102 | 12799 | 605131 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 0 | | 1102 | 12799 | 605131 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 0 | | 1102 | 12799 | 605131 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 0 | | 1102 | 12799 | 605131 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 0 | | 1102 | 12799 | 605131 |
HP:0001268 | HP:0007064 | Progressive language deterioration | 2 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 0 | | 189 | 12852 | 605356 |
HP:0001268 | HP:0002145 | Frontotemporal dementia | 2 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 0 | | 189 | 12852 | 605356 |
HP:0001268 | HP:0002439 | Frontolimbic dementia | 2 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 0 | | 189 | 12852 | 605356 |
HP:0001268 | HP:0007307 | Rapid neurologic deterioration | 2 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 0 | | 189 | 12852 | 605356 |
HP:0001268 | HP:0000727 | Frontal lobe dementia | 2 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 0 | | 189 | 12852 | 605356 |
HP:0001268 | HP:0007123 | Subcortical dementia | 2 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 0 | | 189 | 12852 | 605356 |
HP:0001268 | HP:0007272 | Progressive psychomotor deterioration | 2 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 0 | | 189 | 12852 | 605356 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 0 | | | 20 | 601065 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 0 | | 690 | 567 | 602166 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 0 | | 331 | 15984 | 606350 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 0 | | 89 | 29561 | 611647 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 0 | | 229 | 851 | 607027 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | ATXN7 CL E G H | 6314 | 164500 | Spinocerebellar ataxia 7 | 164500 | C0752125 | OMIM | 0 | | 98 | 10560 | 607640 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 0 | | 3248 | 1388 | 601011 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 0 | | 645 | 2092 | 118955 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 0 | | 306 | 19701 | 300724 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | COL18A1 CL E G H | 80781 | 267750 | Knobloch syndrome 1 | 267750 | C1849409 | OMIM | 0 | | 2717 | 2195 | 120328 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 0 | | 668 | 13760 | 606323 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 0 | | 434 | 20603 | 608172 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | DNM1 CL E G H | 1759 | 442835 | | | | ORPHA | 0 | | 765 | 2972 | 602377 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | DNMT1 CL E G H | 1786 | 314404 | | | | ORPHA | 0 | | 1196 | 2976 | 126375 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | EEF1A2 CL E G H | 1917 | 442835 | | | | ORPHA | 0 | | 575 | 3192 | 602959 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | FGF12 CL E G H | 2257 | 442835 | | | | ORPHA | 0 | | 259 | 3668 | 601513 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | GABRB2 CL E G H | 2561 | 442835 | | | | ORPHA | 0 | | 494 | 4082 | 600232 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | GRIN2D CL E G H | 2906 | 442835 | | | | ORPHA | 0 | | 823 | 4588 | 602717 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | GRN CL E G H | 2896 | 614706 | Ceroid lipofuscinosis, neuronal, 11 | 614706 | C3539123 | OMIM | 0 | | 594 | 4601 | 138945 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | HCN1 CL E G H | 348980 | 442835 | | | | ORPHA | 0 | | 796 | 4845 | 602780 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | KCNA2 CL E G H | 3737 | 442835 | | | | ORPHA | 0 | | 401 | 6220 | 176262 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | KCNB1 CL E G H | 3745 | 442835 | | | | ORPHA | 0 | | 635 | 6231 | 600397 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | KCNC1 CL E G H | 3746 | 616187 | Epilepsy, progressive myoclonic 7 | 616187 | C4015420 | OMIM | 0 | | 391 | 6233 | 176258 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 0 | | 1222 | 16877 | 608507 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | NECAP1 CL E G H | 25977 | 442835 | | | | ORPHA | 0 | | 221 | 24539 | 611623 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | NTRK2 CL E G H | 4915 | 442835 | | | | ORPHA | 0 | | 509 | 8032 | 600456 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | NUS1 CL E G H | 116150 | 442835 | | | | ORPHA | 0 | | 326 | 21042 | 610463 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | PPP3CA CL E G H | 5530 | 442835 | | | | ORPHA | 0 | | 351 | 9314 | 114105 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | PRDM8 CL E G H | 56978 | 324290 | | | | ORPHA | 0 | | 439 | 13993 | 616639 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | SCN3A CL E G H | 6328 | 442835 | | | | ORPHA | 0 | | 1420 | 10590 | 182391 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | SCN8A CL E G H | 6334 | 442835 | | | | ORPHA | 0 | | 1799 | 10596 | 600702 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | SLC13A5 CL E G H | 284111 | 442835 | | | | ORPHA | 0 | | 685 | 23089 | 608305 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | SLC1A2 CL E G H | 6506 | 442835 | | | | ORPHA | 0 | | 359 | 10940 | 600300 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | STXBP1 CL E G H | 6812 | 442835 | | | | ORPHA | 0 | | 1017 | 11444 | 602926 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | SYNGAP1 CL E G H | 8831 | 442835 | | | | ORPHA | 0 | | 1335 | 11497 | 603384 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | SYNJ1 CL E G H | 8867 | 442835 | | | | ORPHA | 0 | | 1315 | 11503 | 604297 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | SYNJ1 CL E G H | 8867 | 615530 | Parkinson disease 20, early-onset | 615530 | C3809824 | OMIM | 0 | | 1315 | 11503 | 604297 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | SZT2 CL E G H | 23334 | 442835 | | | | ORPHA | 0 | | 2862 | 29040 | 615463 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | TRAK1 CL E G H | 22906 | 442835 | | | | ORPHA | 0 | | 208 | 29947 | 608112 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 0 | | 389 | 12404 | 600415 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | UBA5 CL E G H | 79876 | 442835 | | | | ORPHA | 0 | | 223 | 23230 | 610552 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | VPS13C CL E G H | 54832 | 616840 | Parkinson disease 23, autosomal recessive early-onset | 616840 | C4225186 | OMIM | 0 | | 828 | 23594 | 608879 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | WWOX CL E G H | 51741 | 442835 | | | | ORPHA | 0 | | 1102 | 12799 | 605131 |
HP:0001268 | HP:0030219 | Semantic dementia | 3 | YWHAG CL E G H | 7532 | 442835 | | | | ORPHA | 0 | | 189 | 12852 | 605356 |