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:0100543 | HP:0100543 | Cognitive impairment | 0 | AASS CL E G H | 10157 | 238700 | Hyperlysinemia | 238700 | C0268553 | OMIM | 1 | | 118 | 17366 | 605113 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | ADAMTSL4 CL E G H | 54507 | 1885 | Distal myopathy | | C0751336 | ORPHA | 1 | | 476 | 19706 | 610113 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | ADD3 CL E G H | 120 | 617008 | Cerebral palsy, spastic quadriplegic, 3 | 617008 | C4310767 | OMIM | 1 | | 117 | 245 | 601568 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | AKT1 CL E G H | 207 | 201 | | | | ORPHA | 1 | | 634 | 391 | 164730 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | ALG12 CL E G H | 79087 | 79324 | | | | ORPHA | 1 | | 464 | 19358 | 607144 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | ALG2 CL E G H | 85365 | 79326 | | | | ORPHA | 1 | | 262 | 23159 | 607905 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | ALG9 CL E G H | 79796 | 79328 | | | | ORPHA | 1 | | 236 | 15672 | 606941 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | AP5Z1 CL E G H | 9907 | 306511 | | | | ORPHA | 1 | | 810 | 22197 | 613653 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 288 | 15984 | 606350 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | ATG5 CL E G H | 9474 | 617584 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 | 617584 | C4539808 | OMIM | 1 | | 34 | 589 | 604261 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | ATP13A2 CL E G H | 23400 | 314632 | | | | ORPHA | 1 | | 738 | 30213 | 610513 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | ATR CL E G H | 545 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 2273 | 882 | 601215 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | ATRIP CL E G H | 84126 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 374 | 33499 | 606605 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | AUH CL E G H | 549 | 250950 | 3-Methylglutaconic aciduria type 1 | 250950 | C0342727 | OMIM | 1 | | 197 | 890 | 600529 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | B3GALNT2 CL E G H | 148789 | 588 | | | | ORPHA | 1 | | 462 | 28596 | 610194 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | B3GALNT2 CL E G H | 148789 | 615181 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 615181 | C3554638 | OMIM | 1 | | 462 | 28596 | 610194 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | BBIP1 CL E G H | 92482 | 615995 | Bardet-Biedl syndrome 18 | 615995 | C3806174 | OMIM | 1 | | 78 | 28093 | 613605 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | BBS10 CL E G H | 79738 | 615987 | Bardet-Biedl syndrome 10 | 615987 | C1859568 | OMIM | 1 | | 597 | 26291 | 610148 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | BBS12 CL E G H | 166379 | 615989 | Bardet-Biedl syndrome 12 | 615989 | C1859570 | OMIM | 1 | | 499 | 26648 | 610683 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | BBS5 CL E G H | 129880 | 615983 | Bardet-Biedl syndrome 5 | 615983 | C3892039 | OMIM | 1 | | 227 | 970 | 603650 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | BRAF CL E G H | 673 | 613706 | Noonan syndrome 7 | 613706 | C3150970 | OMIM | 1 | | 948 | 1097 | 164757 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | C12orf65 CL E G H | 91574 | 615035 | Spastic paraplegia 55, autosomal recessive | 615035 | C3539506 | OMIM | 1 | | | 26784 | 613541 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | CACNA1G CL E G H | 8913 | 616795 | Spinocerebellar ataxia 42 | 616795 | C4225205 | OMIM | 1 | | 445 | 1394 | 604065 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | CCDC78 CL E G H | 124093 | 614807 | Myopathy, centronuclear, 4 | 614807 | C3553709 | OMIM | 1 | | 458 | 14153 | 614666 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | CENPE CL E G H | 1062 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 272 | 1856 | 117143 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | CENPJ CL E G H | 55835 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 438 | 17272 | 609279 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | CEP120 CL E G H | 153241 | 617761 | JOUBERT SYNDROME 31 | 617761 | C4540355 | OMIM | 1 | | 305 | 26690 | 613446 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | CEP152 CL E G H | 22995 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 450 | 29298 | 613529 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | CLCF1 CL E G H | 23529 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 33 | 17412 | 607672 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | CLMP CL E G H | 79827 | 2301 | | | | ORPHA | 1 | | 66 | 24039 | 611693 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | COASY CL E G H | 80347 | 397725 | | | | ORPHA | 1 | | 175 | 29932 | 609855 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | COL3A1 CL E G H | 1281 | 286 | Imaizumi Kuroki syndrome | | | ORPHA | 1 | | 2274 | 2201 | 120180 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | COL5A1 CL E G H | 1289 | 286 | Imaizumi Kuroki syndrome | | | ORPHA | 1 | | 2531 | 2209 | 120215 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | CRLF1 CL E G H | 9244 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 80 | 2364 | 604237 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | CTDP1 CL E G H | 9150 | 604168 | Congenital Cataracts, Facial Dysmorphism, and Neuropathy | 604168 | C1858726 | OMIM | 1 | | 383 | 2498 | 604927 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 119 | 2718 | 600811 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | DGUOK CL E G H | 1716 | 617070 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | 617070 | C4310733 | OMIM | 1 | | 167 | 2858 | 601465 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | DMD CL E G H | 1756 | 98896 | | | | ORPHA | 1 | | 7370 | 2928 | 300377 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | DNAJC6 CL E G H | 9829 | 615528 | Parkinson disease 19a, juvenile-onset | 615528 | C3809811 | OMIM | 1 | | 235 | 15469 | 608375 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | DOLK CL E G H | 22845 | 91131 | | | | ORPHA | 1 | | 424 | 23406 | 610746 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | DSTYK CL E G H | 25778 | 270750 | Spastic paraplegia 23 | 270750 | C0796019 | OMIM | 1 | | 102 | 29043 | 612666 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | EPRS CL E G H | 2058 | 617951 | LEUKODYSTROPHY, HYPOMYELINATING, 15 | 617951 | CN244566 | OMIM | 1 | | | 3418 | 138295 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 1196 | 3434 | 126340 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 368 | 3435 | 133510 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | ERCC3 CL E G H | 2071 | 616390 | Trichothiodystrophy 2, photosensitive | 616390 | C4225344 | OMIM | 1 | | 368 | 3435 | 133510 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 602 | 3436 | 133520 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 425 | 3437 | 133530 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | ERF CL E G H | 2077 | 2343 | | | | ORPHA | 1 | | 131 | 3444 | 611888 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | FAS CL E G H | 355 | 3437 | | | | ORPHA | 1 | | 313 | 11920 | 134637 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | FBN1 CL E G H | 2200 | 1885 | Distal myopathy | | C0751336 | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | FGD1 CL E G H | 2245 | 915 | | | | ORPHA | 1 | | 346 | 3663 | 300546 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | FGFR3 CL E G H | 2261 | 93274 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | FKRP CL E G H | 79147 | 588 | | | | ORPHA | 1 | | 787 | 17997 | 606596 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | FKTN CL E G H | 2218 | 588 | | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | FLNA CL E G H | 2316 | 2301 | | | | ORPHA | 1 | | 2538 | 3754 | 300017 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | GBE1 CL E G H | 2632 | 263570 | Polyglucosan body disease, adult | 263570 | C1849722 | OMIM | 1 | | 600 | 4180 | 607839 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | GDF5 CL E G H | 8200 | 968 | | | | ORPHA | 1 | | 175 | 4220 | 601146 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | GJB2 CL E G H | 2706 | 494 | | | | ORPHA | 1 | | 516 | 4284 | 121011 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | GJC2 CL E G H | 57165 | 608804 | Leukodystrophy, hypomyelinating, 2 | 608804 | C1837355 | OMIM | 1 | | 250 | 17494 | 608803 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | GJC2 CL E G H | 57165 | 613206 | Spastic paraplegia 44, autosomal recessive | 613206 | C2750784 | OMIM | 1 | | 250 | 17494 | 608803 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | GLA CL E G H | 2717 | 324 | Slti Salem syndrome | | | ORPHA | 1 | | 1002 | 4296 | 300644 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | GM2A CL E G H | 2760 | 309246 | | | | ORPHA | 1 | | 166 | 4367 | 613109 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | GMPPB CL E G H | 29925 | 588 | | | | ORPHA | 1 | | 273 | 22932 | 615320 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | GNAS CL E G H | 2778 | 103580 | Pseudohypoparathyroidism | 103580 | C0033806 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | GNAS CL E G H | 2778 | 612462 | Pseudohypoparathyroidism type 1C | 612462 | C2932716 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | GNAS CL E G H | 2778 | 612463 | Pseudopseudohypoparathyroidism | 612463 | C0033835 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | GRID2 CL E G H | 2895 | 363432 | | | | ORPHA | 1 | | 158 | 4576 | 602368 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | GRID2 CL E G H | 2895 | 616204 | Spinocerebellar ataxia, autosomal recessive 18 | 616204 | C4015505 | OMIM | 1 | | 158 | 4576 | 602368 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | INSR CL E G H | 3643 | 508 | Acroosteolysis dominant type | | | ORPHA | 1 | | 553 | 6091 | 147670 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | ITGA7 CL E G H | 3679 | 613204 | Muscular dystrophy, congenital, due to integrin alpha-7 deficiency | 613204 | C2750786 | OMIM | 1 | | 718 | 6143 | 600536 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 1134 | 6180 | 147265 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | ITPR1 CL E G H | 3708 | 117360 | Spinocerebellar ataxia 29 | 117360 | C1861732 | OMIM | 1 | | 1134 | 6180 | 147265 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | KATNB1 CL E G H | 10300 | 616212 | Lissencephaly 6, with microcephaly | 616212 | C4015525 | OMIM | 1 | | 188 | 6217 | 602703 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | KCNT1 CL E G H | 57582 | 615005 | Epilepsy, nocturnal frontal lobe, 5 | 615005 | C3554306 | OMIM | 1 | | 1678 | 18865 | 608167 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | KLLN CL E G H | 100144748 | 201 | | | | ORPHA | 1 | | 316 | 37212 | 612105 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | LAGE3 CL E G H | 8270 | 2065 | | | | ORPHA | 1 | | 233 | 26058 | 300060 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | LAMP2 CL E G H | 3920 | 300257 | Danon disease | 300257 | C0878677 | OMIM | 1 | | 759 | 6501 | 309060 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | LARGE1 CL E G H | 9215 | 588 | | | | ORPHA | 1 | | 658 | 6511 | 603590 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | LTBP4 CL E G H | 8425 | 98896 | | | | ORPHA | 1 | | 540 | 6717 | 604710 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | LZTFL1 CL E G H | 54585 | 615994 | Bardet-Biedl syndrome 17 | 615994 | C3714980 | OMIM | 1 | | 110 | 6741 | 606568 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | MAG CL E G H | 4099 | 616680 | Spastic paraplegia 75, autosomal recessive | 616680 | C4225250 | OMIM | 1 | | 171 | 6783 | 159460 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | MAOA CL E G H | 4128 | 3057 | Jorgenson Lenz syndrome | | | ORPHA | 1 | | 259 | 6833 | 309850 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | MARS2 CL E G H | 92935 | 611390 | Ataxia, spastic, 3, autosomal recessive | 611390 | C1969645 | OMIM | 1 | | 130 | 25133 | 609728 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | METTL23 CL E G H | 124512 | 615942 | Mental retardation, autosomal recessive 44 | 615942 | C4014745 | OMIM | 1 | | 56 | 26988 | 615262 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | MPDU1 CL E G H | 9526 | 79323 | | | | ORPHA | 1 | | 105 | 7207 | 604041 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | MT-ND5 CL E G H | 4540 | 551 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | MT-RNR1 CL E G H | 4549 | 551 | | | | ORPHA | 1 | | 1 | 7470 | 180450 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | MT-TF CL E G H | 4558 | 551 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | MT-TH CL E G H | 4564 | 551 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | MT-TK CL E G H | 4566 | 551 | | | | ORPHA | 1 | | | 7489 | 590060 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | MT-TL1 CL E G H | 4567 | 551 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | MT-TP CL E G H | 4571 | 551 | | | | ORPHA | 1 | | | 7494 | 590075 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | MT-TQ CL E G H | 4572 | 551 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | MT-TS1 CL E G H | 4574 | 551 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | MT-TS2 CL E G H | 4575 | 551 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | MTFMT CL E G H | 123263 | 614947 | Combined oxidative phosphorylation deficiency 15 | 614947 | C3554182 | OMIM | 1 | | 181 | 29666 | 611766 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | MTO1 CL E G H | 25821 | 614702 | Combined oxidative phosphorylation deficiency 10 | 614702 | C3553529 | OMIM | 1 | | 441 | 19261 | 614667 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | MTOR CL E G H | 2475 | 607341 | Focal cortical dysplasia type II | 607341 | C1846385 | OMIM | 1 | | 1671 | 3942 | 601231 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | NAGA CL E G H | 4668 | 609242 | Kanzaki disease | 609242 | C1836522 | OMIM | 1 | | 183 | 7631 | 104170 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | NAGS CL E G H | 162417 | 237310 | Hyperammonemia, type III | 237310 | C0268543 | OMIM | 1 | | 345 | 17996 | 608300 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | NFIA CL E G H | 4774 | 613735 | Brain malformations and urinary tract defects | 613735 | C3151036 | OMIM | 1 | | 188 | 7784 | 600727 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | NKX6-2 CL E G H | 84504 | 617560 | SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY | 617560 | C4479653 | OMIM | 1 | | 172 | 19321 | 605955 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | NPHP1 CL E G H | 4867 | 609583 | Joubert syndrome 4 | 609583 | C1846790 | OMIM | 1 | | 653 | 7905 | 607100 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | NUP107 CL E G H | 57122 | 2065 | | | | ORPHA | 1 | | 149 | 29914 | 607617 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | OCRL CL E G H | 4952 | 300555 | Dent disease 2 | 300555 | C1845167 | OMIM | 1 | | 508 | 8108 | 300535 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | OPA3 CL E G H | 80207 | 258501 | 3-Methylglutaconic aciduria type 3 | 258501 | C0574084 | OMIM | 1 | | 448 | 8142 | 606580 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | OSGEP CL E G H | 55644 | 2065 | | | | ORPHA | 1 | | 106 | 18028 | 610107 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | PANK2 CL E G H | 80025 | 216866 | | | | ORPHA | 1 | | 371 | 15894 | 606157 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | PCNT CL E G H | 5116 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 1505 | 16068 | 605925 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | PEX1 CL E G H | 5189 | 912 | | | | ORPHA | 1 | | 1205 | 8850 | 602136 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | PEX10 CL E G H | 5192 | 912 | | | | ORPHA | 1 | | 654 | 8851 | 602859 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | PEX11B CL E G H | 8799 | 912 | | | | ORPHA | 1 | | 350 | 8853 | 603867 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | PEX12 CL E G H | 5193 | 912 | | | | ORPHA | 1 | | 360 | 8854 | 601758 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | PEX13 CL E G H | 5194 | 912 | | | | ORPHA | 1 | | 397 | 8855 | 601789 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | PEX14 CL E G H | 5195 | 912 | | | | ORPHA | 1 | | 374 | 8856 | 601791 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | PEX16 CL E G H | 9409 | 912 | | | | ORPHA | 1 | | 346 | 8857 | 603360 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | PEX16 CL E G H | 9409 | 614877 | Peroxisome biogenesis disorder 8B | 614877 | C3553960 | OMIM | 1 | | 346 | 8857 | 603360 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | PEX19 CL E G H | 5824 | 912 | | | | ORPHA | 1 | | 304 | 9713 | 600279 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | PEX2 CL E G H | 5828 | 912 | | | | ORPHA | 1 | | 366 | 9717 | 170993 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | PEX26 CL E G H | 55670 | 912 | | | | ORPHA | 1 | | 431 | 22965 | 608666 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | PEX3 CL E G H | 8504 | 912 | | | | ORPHA | 1 | | 271 | 8858 | 603164 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | PEX5 CL E G H | 5830 | 912 | | | | ORPHA | 1 | | 689 | 9719 | 600414 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | PEX6 CL E G H | 5190 | 912 | | | | ORPHA | 1 | | 1085 | 8859 | 601498 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | PGM3 CL E G H | 5238 | 615816 | Immunodeficiency 23 | 615816 | C4014371 | OMIM | 1 | | 265 | 8907 | 172100 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | PIK3CA CL E G H | 5290 | 201 | | | | ORPHA | 1 | | 975 | 8975 | 171834 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | PLK4 CL E G H | 10733 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 407 | 11397 | 605031 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | POLG CL E G H | 5428 | 94125 | Recessive mitochondrial ataxia syndrome | | CN206743 | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | POLG CL E G H | 5428 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | POMGNT1 CL E G H | 55624 | 588 | | | | ORPHA | 1 | | 943 | 19139 | 606822 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | POMK CL E G H | 84197 | 616094 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 | 616094 | C4015184 | OMIM | 1 | | 244 | 26267 | 615247 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | POMT1 CL E G H | 10585 | 588 | | | | ORPHA | 1 | | 737 | 9202 | 607423 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | POMT2 CL E G H | 29954 | 588 | | | | ORPHA | 1 | | 766 | 19743 | 607439 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | PORCN CL E G H | 64840 | 2092 | Ehrlichiosis | | | ORPHA | 1 | | 248 | 17652 | 300651 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | PTEN CL E G H | 5728 | 201 | | | | ORPHA | 1 | | 2750 | 9588 | 601728 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | PTPN22 CL E G H | 26191 | 3437 | | | | ORPHA | 1 | | 34 | 9652 | 600716 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | RBBP8 CL E G H | 5932 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 237 | 9891 | 604124 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | RIN2 CL E G H | 54453 | 217335 | | | | ORPHA | 1 | | 301 | 18750 | 610222 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | ROBO3 CL E G H | 64221 | 2744 | | | | ORPHA | 1 | | 234 | 13433 | 608630 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | SCN8A CL E G H | 6334 | 614306 | Cognitive impairment with or without cerebellar ataxia | 614306 | C3280415 | OMIM | 1 | | 1494 | 10596 | 600702 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | SDCCAG8 CL E G H | 10806 | 615993 | Bardet-Biedl syndrome 16 | 615993 | C3889474 | OMIM | 1 | | 492 | 10671 | 613524 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | SDHA CL E G H | 6389 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 2186 | 10680 | 600857 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | SDHAF1 CL E G H | 644096 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 60 | 33867 | 612848 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | SDHB CL E G H | 6390 | 201 | | | | ORPHA | 1 | | 1099 | 10681 | 185470 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | SDHC CL E G H | 6391 | 201 | | | | ORPHA | 1 | | 702 | 10682 | 602413 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | SDHD CL E G H | 6392 | 201 | | | | ORPHA | 1 | | 607 | 10683 | 602690 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | SDHD CL E G H | 6392 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 607 | 10683 | 602690 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | SEC23B CL E G H | 10483 | 201 | | | | ORPHA | 1 | | 259 | 10702 | 610512 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | SEC61A1 CL E G H | 29927 | 617056 | Hyperuricemic nephropathy, familial juvenile, 4 | 617056 | C4310741 | OMIM | 1 | | 138 | 18276 | 609213 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | SLC18A2 CL E G H | 6571 | 352649 | | | | ORPHA | 1 | | 124 | 10935 | 193001 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | SLC18A2 CL E G H | 6571 | 618049 | PARKINSONISM-DYSTONIA, INFANTILE, 2 | 618049 | CN248785 | OMIM | 1 | | 124 | 10935 | 193001 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | SLC2A1 CL E G H | 6513 | 601042 | Dystonia 9 | 601042 | C1832855 | OMIM | 1 | | 827 | 11005 | 138140 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | SLC2A1 CL E G H | 6513 | 612126 | GLUT1 deficiency syndrome 2 | 612126 | C1842534 | OMIM | 1 | | 827 | 11005 | 138140 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | SLC30A9 CL E G H | 10463 | 617595 | Birk-Landau-Perez syndrome | 617595 | C4539828 | OMIM | 1 | | 30 | 1329 | 604604 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | SMC1A CL E G H | 8243 | 300590 | Congenital muscular hypertrophy-cerebral syndrome | 300590 | C1802395 | OMIM | 1 | | 798 | 11111 | 300040 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | SMC3 CL E G H | 9126 | 610759 | Cornelia de Lange syndrome 3 | 610759 | C1853099 | OMIM | 1 | | 358 | 2468 | 606062 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | SOST CL E G H | 50964 | 269500 | Sclerosteosis 1 | 269500 | CN032489 | OMIM | 1 | | 85 | 13771 | 605740 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | SPART CL E G H | 23111 | 101000 | | | | ORPHA | 1 | | 274 | 18514 | 607111 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | SPG11 CL E G H | 80208 | 616668 | Charcot-Marie-Tooth disease, axonal type 2X | 616668 | C4225253 | OMIM | 1 | | 2165 | 11226 | 610844 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | SPR CL E G H | 6697 | 70594 | | | | ORPHA | 1 | | 160 | 11257 | 182125 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | SPTBN2 CL E G H | 6712 | 600224 | Spinocerebellar ataxia 5 | 600224 | C0752123 | OMIM | 1 | | 716 | 11276 | 604985 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | SPTBN2 CL E G H | 6712 | 615386 | Spinocerebellar ataxia, autosomal recessive 14 | 615386 | C3809327 | OMIM | 1 | | 716 | 11276 | 604985 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | TMEM240 CL E G H | 339453 | 98773 | | | | ORPHA | 1 | | 192 | 25186 | 616101 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | TMEM240 CL E G H | 339453 | 607454 | Spinocerebellar ataxia 21 | 607454 | C1843891 | OMIM | 1 | | 192 | 25186 | 616101 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | TP53RK CL E G H | 112858 | 2065 | | | | ORPHA | 1 | | 40 | 16197 | 608679 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | TPRKB CL E G H | 51002 | 2065 | | | | ORPHA | 1 | | 22 | 24259 | 608680 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | TRAIP CL E G H | 10293 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 47 | 30764 | 605958 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | TSC1 CL E G H | 7248 | 607341 | Focal cortical dysplasia type II | 607341 | C1846385 | OMIM | 1 | | 3690 | 12362 | 605284 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | TSC2 CL E G H | 7249 | 607341 | Focal cortical dysplasia type II | 607341 | C1846385 | OMIM | 1 | | 8495 | 12363 | 191092 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | TSFM CL E G H | 10102 | 610505 | Combined oxidative phosphorylation deficiency 3 | 610505 | C1864840 | OMIM | 1 | | 302 | 12367 | 604723 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | TTC19 CL E G H | 54902 | 615157 | Mitochondrial complex III deficiency, nuclear type 2 | 615157 | C3554605 | OMIM | 1 | | 263 | 26006 | 613814 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | TTC37 CL E G H | 9652 | 222470 | Trichohepatoenteric syndrome 1 | 222470 | CN034858 | OMIM | 1 | | | 23639 | 614589 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | TTC8 CL E G H | 123016 | 615985 | Bardet-Biedl syndrome 8 | 615985 | C1859566 | OMIM | 1 | | 320 | 20087 | 608132 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | TWNK CL E G H | 56652 | 607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 | C1843851 | OMIM | 1 | | 308 | 1160 | 606075 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | UBA1 CL E G H | 7317 | 1145 | | | | ORPHA | 1 | | 531 | 12469 | 314370 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | VPS37A CL E G H | 137492 | 614898 | Spastic paraplegia 53, autosomal recessive | 614898 | C3539494 | OMIM | 1 | | 198 | 24928 | 609927 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | WDR4 CL E G H | 10785 | 2065 | | | | ORPHA | 1 | | 147 | 12756 | 605924 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | WDR73 CL E G H | 84942 | 2065 | | | | ORPHA | 1 | | 138 | 25928 | 616144 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 276 | 12814 | 611153 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 669 | 12816 | 613208 |
HP:0100543 | HP:0100543 | Cognitive impairment | 0 | XRCC4 CL E G H | 7518 | 616541 | Short stature, microcephaly, and endocrine dysfunction | 616541 | C4225288 | OMIM | 1 | | 86 | 12831 | 194363 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | AASS CL E G H | 10157 | 238700 | Hyperlysinemia | 238700 | C0268553 | OMIM | 1 | | 118 | 17366 | 605113 |
HP:0100543 | HP:0033630 | Brain fog | 1 | AASS CL E G H | 10157 | 238700 | Hyperlysinemia | 238700 | C0268553 | OMIM | 1 | | 118 | 17366 | 605113 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | AASS CL E G H | 10157 | 238700 | Hyperlysinemia | 238700 | C0268553 | OMIM | 1 | | 118 | 17366 | 605113 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | AASS CL E G H | 10157 | 238700 | Hyperlysinemia | 238700 | C0268553 | OMIM | 1 | | 118 | 17366 | 605113 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | AASS CL E G H | 10157 | 238700 | Hyperlysinemia | 238700 | C0268553 | OMIM | 1 | | 118 | 17366 | 605113 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | ADAMTSL4 CL E G H | 54507 | 1885 | Distal myopathy | | C0751336 | ORPHA | 1 | | 476 | 19706 | 610113 |
HP:0100543 | HP:0033630 | Brain fog | 1 | ADAMTSL4 CL E G H | 54507 | 1885 | Distal myopathy | | C0751336 | ORPHA | 1 | | 476 | 19706 | 610113 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | ADAMTSL4 CL E G H | 54507 | 1885 | Distal myopathy | | C0751336 | ORPHA | 1 | | 476 | 19706 | 610113 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | ADAMTSL4 CL E G H | 54507 | 1885 | Distal myopathy | | C0751336 | ORPHA | 1 | | 476 | 19706 | 610113 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | ADAMTSL4 CL E G H | 54507 | 1885 | Distal myopathy | | C0751336 | ORPHA | 1 | | 476 | 19706 | 610113 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | ADD3 CL E G H | 120 | 617008 | Cerebral palsy, spastic quadriplegic, 3 | 617008 | C4310767 | OMIM | 1 | | 117 | 245 | 601568 |
HP:0100543 | HP:0033630 | Brain fog | 1 | ADD3 CL E G H | 120 | 617008 | Cerebral palsy, spastic quadriplegic, 3 | 617008 | C4310767 | OMIM | 1 | | 117 | 245 | 601568 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | ADD3 CL E G H | 120 | 617008 | Cerebral palsy, spastic quadriplegic, 3 | 617008 | C4310767 | OMIM | 1 | | 117 | 245 | 601568 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | ADD3 CL E G H | 120 | 617008 | Cerebral palsy, spastic quadriplegic, 3 | 617008 | C4310767 | OMIM | 1 | | 117 | 245 | 601568 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | ADD3 CL E G H | 120 | 617008 | Cerebral palsy, spastic quadriplegic, 3 | 617008 | C4310767 | OMIM | 1 | | 117 | 245 | 601568 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | AKT1 CL E G H | 207 | 201 | | | | ORPHA | 1 | | 634 | 391 | 164730 |
HP:0100543 | HP:0033630 | Brain fog | 1 | AKT1 CL E G H | 207 | 201 | | | | ORPHA | 1 | | 634 | 391 | 164730 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | AKT1 CL E G H | 207 | 201 | | | | ORPHA | 1 | | 634 | 391 | 164730 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | AKT1 CL E G H | 207 | 201 | | | | ORPHA | 1 | | 634 | 391 | 164730 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | AKT1 CL E G H | 207 | 201 | | | | ORPHA | 1 | | 634 | 391 | 164730 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | ALG12 CL E G H | 79087 | 79324 | | | | ORPHA | 1 | | 464 | 19358 | 607144 |
HP:0100543 | HP:0033630 | Brain fog | 1 | ALG12 CL E G H | 79087 | 79324 | | | | ORPHA | 1 | | 464 | 19358 | 607144 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | ALG12 CL E G H | 79087 | 79324 | | | | ORPHA | 1 | | 464 | 19358 | 607144 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | ALG12 CL E G H | 79087 | 79324 | | | | ORPHA | 1 | | 464 | 19358 | 607144 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | ALG12 CL E G H | 79087 | 79324 | | | | ORPHA | 1 | | 464 | 19358 | 607144 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | ALG2 CL E G H | 85365 | 79326 | | | | ORPHA | 1 | | 262 | 23159 | 607905 |
HP:0100543 | HP:0033630 | Brain fog | 1 | ALG2 CL E G H | 85365 | 79326 | | | | ORPHA | 1 | | 262 | 23159 | 607905 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | ALG2 CL E G H | 85365 | 79326 | | | | ORPHA | 1 | | 262 | 23159 | 607905 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | ALG2 CL E G H | 85365 | 79326 | | | | ORPHA | 1 | | 262 | 23159 | 607905 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | ALG2 CL E G H | 85365 | 79326 | | | | ORPHA | 1 | | 262 | 23159 | 607905 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | ALG9 CL E G H | 79796 | 79328 | | | | ORPHA | 1 | | 236 | 15672 | 606941 |
HP:0100543 | HP:0033630 | Brain fog | 1 | ALG9 CL E G H | 79796 | 79328 | | | | ORPHA | 1 | | 236 | 15672 | 606941 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | ALG9 CL E G H | 79796 | 79328 | | | | ORPHA | 1 | | 236 | 15672 | 606941 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | ALG9 CL E G H | 79796 | 79328 | | | | ORPHA | 1 | | 236 | 15672 | 606941 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | ALG9 CL E G H | 79796 | 79328 | | | | ORPHA | 1 | | 236 | 15672 | 606941 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | AP5Z1 CL E G H | 9907 | 306511 | | | | ORPHA | 1 | | 810 | 22197 | 613653 |
HP:0100543 | HP:0033630 | Brain fog | 1 | AP5Z1 CL E G H | 9907 | 306511 | | | | ORPHA | 1 | | 810 | 22197 | 613653 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | AP5Z1 CL E G H | 9907 | 306511 | | | | ORPHA | 1 | | 810 | 22197 | 613653 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | AP5Z1 CL E G H | 9907 | 306511 | | | | ORPHA | 1 | | 810 | 22197 | 613653 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | AP5Z1 CL E G H | 9907 | 306511 | | | | ORPHA | 1 | | 810 | 22197 | 613653 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 288 | 15984 | 606350 |
HP:0100543 | HP:0033630 | Brain fog | 1 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 288 | 15984 | 606350 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 288 | 15984 | 606350 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 288 | 15984 | 606350 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 288 | 15984 | 606350 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | ATG5 CL E G H | 9474 | 617584 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 | 617584 | C4539808 | OMIM | 1 | | 34 | 589 | 604261 |
HP:0100543 | HP:0033630 | Brain fog | 1 | ATG5 CL E G H | 9474 | 617584 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 | 617584 | C4539808 | OMIM | 1 | | 34 | 589 | 604261 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | ATG5 CL E G H | 9474 | 617584 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 | 617584 | C4539808 | OMIM | 1 | | 34 | 589 | 604261 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | ATG5 CL E G H | 9474 | 617584 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 | 617584 | C4539808 | OMIM | 1 | | 34 | 589 | 604261 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | ATG5 CL E G H | 9474 | 617584 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 | 617584 | C4539808 | OMIM | 1 | | 34 | 589 | 604261 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | ATP13A2 CL E G H | 23400 | 314632 | | | | ORPHA | 1 | | 738 | 30213 | 610513 |
HP:0100543 | HP:0033630 | Brain fog | 1 | ATP13A2 CL E G H | 23400 | 314632 | | | | ORPHA | 1 | | 738 | 30213 | 610513 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | ATP13A2 CL E G H | 23400 | 314632 | | | | ORPHA | 1 | | 738 | 30213 | 610513 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | ATP13A2 CL E G H | 23400 | 314632 | | | | ORPHA | 1 | | 738 | 30213 | 610513 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | ATP13A2 CL E G H | 23400 | 314632 | | | | ORPHA | 1 | | 738 | 30213 | 610513 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | ATR CL E G H | 545 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 2273 | 882 | 601215 |
HP:0100543 | HP:0033630 | Brain fog | 1 | ATR CL E G H | 545 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 2273 | 882 | 601215 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | ATR CL E G H | 545 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 2273 | 882 | 601215 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | ATR CL E G H | 545 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 2273 | 882 | 601215 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | ATR CL E G H | 545 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 2273 | 882 | 601215 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | ATRIP CL E G H | 84126 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 374 | 33499 | 606605 |
HP:0100543 | HP:0033630 | Brain fog | 1 | ATRIP CL E G H | 84126 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 374 | 33499 | 606605 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | ATRIP CL E G H | 84126 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 374 | 33499 | 606605 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | ATRIP CL E G H | 84126 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 374 | 33499 | 606605 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | ATRIP CL E G H | 84126 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 374 | 33499 | 606605 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0100543 | HP:0033630 | Brain fog | 1 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | AUH CL E G H | 549 | 250950 | 3-Methylglutaconic aciduria type 1 | 250950 | C0342727 | OMIM | 1 | | 197 | 890 | 600529 |
HP:0100543 | HP:0033630 | Brain fog | 1 | AUH CL E G H | 549 | 250950 | 3-Methylglutaconic aciduria type 1 | 250950 | C0342727 | OMIM | 1 | | 197 | 890 | 600529 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | AUH CL E G H | 549 | 250950 | 3-Methylglutaconic aciduria type 1 | 250950 | C0342727 | OMIM | 1 | | 197 | 890 | 600529 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | AUH CL E G H | 549 | 250950 | 3-Methylglutaconic aciduria type 1 | 250950 | C0342727 | OMIM | 1 | | 197 | 890 | 600529 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | AUH CL E G H | 549 | 250950 | 3-Methylglutaconic aciduria type 1 | 250950 | C0342727 | OMIM | 1 | | 197 | 890 | 600529 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | B3GALNT2 CL E G H | 148789 | 588 | | | | ORPHA | 1 | | 462 | 28596 | 610194 |
HP:0100543 | HP:0033630 | Brain fog | 1 | B3GALNT2 CL E G H | 148789 | 588 | | | | ORPHA | 1 | | 462 | 28596 | 610194 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | B3GALNT2 CL E G H | 148789 | 588 | | | | ORPHA | 1 | | 462 | 28596 | 610194 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | B3GALNT2 CL E G H | 148789 | 588 | | | | ORPHA | 1 | | 462 | 28596 | 610194 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | B3GALNT2 CL E G H | 148789 | 588 | | | | ORPHA | 1 | | 462 | 28596 | 610194 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | B3GALNT2 CL E G H | 148789 | 615181 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 615181 | C3554638 | OMIM | 1 | | 462 | 28596 | 610194 |
HP:0100543 | HP:0033630 | Brain fog | 1 | B3GALNT2 CL E G H | 148789 | 615181 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 615181 | C3554638 | OMIM | 1 | | 462 | 28596 | 610194 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | B3GALNT2 CL E G H | 148789 | 615181 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 615181 | C3554638 | OMIM | 1 | | 462 | 28596 | 610194 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | B3GALNT2 CL E G H | 148789 | 615181 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 615181 | C3554638 | OMIM | 1 | | 462 | 28596 | 610194 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | B3GALNT2 CL E G H | 148789 | 615181 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 615181 | C3554638 | OMIM | 1 | | 462 | 28596 | 610194 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | BBIP1 CL E G H | 92482 | 615995 | Bardet-Biedl syndrome 18 | 615995 | C3806174 | OMIM | 1 | | 78 | 28093 | 613605 |
HP:0100543 | HP:0033630 | Brain fog | 1 | BBIP1 CL E G H | 92482 | 615995 | Bardet-Biedl syndrome 18 | 615995 | C3806174 | OMIM | 1 | | 78 | 28093 | 613605 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | BBIP1 CL E G H | 92482 | 615995 | Bardet-Biedl syndrome 18 | 615995 | C3806174 | OMIM | 1 | | 78 | 28093 | 613605 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | BBIP1 CL E G H | 92482 | 615995 | Bardet-Biedl syndrome 18 | 615995 | C3806174 | OMIM | 1 | | 78 | 28093 | 613605 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | BBIP1 CL E G H | 92482 | 615995 | Bardet-Biedl syndrome 18 | 615995 | C3806174 | OMIM | 1 | | 78 | 28093 | 613605 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | BBS10 CL E G H | 79738 | 615987 | Bardet-Biedl syndrome 10 | 615987 | C1859568 | OMIM | 1 | | 597 | 26291 | 610148 |
HP:0100543 | HP:0033630 | Brain fog | 1 | BBS10 CL E G H | 79738 | 615987 | Bardet-Biedl syndrome 10 | 615987 | C1859568 | OMIM | 1 | | 597 | 26291 | 610148 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | BBS10 CL E G H | 79738 | 615987 | Bardet-Biedl syndrome 10 | 615987 | C1859568 | OMIM | 1 | | 597 | 26291 | 610148 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | BBS10 CL E G H | 79738 | 615987 | Bardet-Biedl syndrome 10 | 615987 | C1859568 | OMIM | 1 | | 597 | 26291 | 610148 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | BBS10 CL E G H | 79738 | 615987 | Bardet-Biedl syndrome 10 | 615987 | C1859568 | OMIM | 1 | | 597 | 26291 | 610148 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | BBS12 CL E G H | 166379 | 615989 | Bardet-Biedl syndrome 12 | 615989 | C1859570 | OMIM | 1 | | 499 | 26648 | 610683 |
HP:0100543 | HP:0033630 | Brain fog | 1 | BBS12 CL E G H | 166379 | 615989 | Bardet-Biedl syndrome 12 | 615989 | C1859570 | OMIM | 1 | | 499 | 26648 | 610683 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | BBS12 CL E G H | 166379 | 615989 | Bardet-Biedl syndrome 12 | 615989 | C1859570 | OMIM | 1 | | 499 | 26648 | 610683 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | BBS12 CL E G H | 166379 | 615989 | Bardet-Biedl syndrome 12 | 615989 | C1859570 | OMIM | 1 | | 499 | 26648 | 610683 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | BBS12 CL E G H | 166379 | 615989 | Bardet-Biedl syndrome 12 | 615989 | C1859570 | OMIM | 1 | | 499 | 26648 | 610683 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | BBS5 CL E G H | 129880 | 615983 | Bardet-Biedl syndrome 5 | 615983 | C3892039 | OMIM | 1 | | 227 | 970 | 603650 |
HP:0100543 | HP:0033630 | Brain fog | 1 | BBS5 CL E G H | 129880 | 615983 | Bardet-Biedl syndrome 5 | 615983 | C3892039 | OMIM | 1 | | 227 | 970 | 603650 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | BBS5 CL E G H | 129880 | 615983 | Bardet-Biedl syndrome 5 | 615983 | C3892039 | OMIM | 1 | | 227 | 970 | 603650 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | BBS5 CL E G H | 129880 | 615983 | Bardet-Biedl syndrome 5 | 615983 | C3892039 | OMIM | 1 | | 227 | 970 | 603650 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | BBS5 CL E G H | 129880 | 615983 | Bardet-Biedl syndrome 5 | 615983 | C3892039 | OMIM | 1 | | 227 | 970 | 603650 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | BRAF CL E G H | 673 | 613706 | Noonan syndrome 7 | 613706 | C3150970 | OMIM | 1 | | 948 | 1097 | 164757 |
HP:0100543 | HP:0033630 | Brain fog | 1 | BRAF CL E G H | 673 | 613706 | Noonan syndrome 7 | 613706 | C3150970 | OMIM | 1 | | 948 | 1097 | 164757 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | BRAF CL E G H | 673 | 613706 | Noonan syndrome 7 | 613706 | C3150970 | OMIM | 1 | | 948 | 1097 | 164757 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | BRAF CL E G H | 673 | 613706 | Noonan syndrome 7 | 613706 | C3150970 | OMIM | 1 | | 948 | 1097 | 164757 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | BRAF CL E G H | 673 | 613706 | Noonan syndrome 7 | 613706 | C3150970 | OMIM | 1 | | 948 | 1097 | 164757 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | C12orf65 CL E G H | 91574 | 615035 | Spastic paraplegia 55, autosomal recessive | 615035 | C3539506 | OMIM | 1 | | | 26784 | 613541 |
HP:0100543 | HP:0033630 | Brain fog | 1 | C12orf65 CL E G H | 91574 | 615035 | Spastic paraplegia 55, autosomal recessive | 615035 | C3539506 | OMIM | 1 | | | 26784 | 613541 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | C12orf65 CL E G H | 91574 | 615035 | Spastic paraplegia 55, autosomal recessive | 615035 | C3539506 | OMIM | 1 | | | 26784 | 613541 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | C12orf65 CL E G H | 91574 | 615035 | Spastic paraplegia 55, autosomal recessive | 615035 | C3539506 | OMIM | 1 | | | 26784 | 613541 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | C12orf65 CL E G H | 91574 | 615035 | Spastic paraplegia 55, autosomal recessive | 615035 | C3539506 | OMIM | 1 | | | 26784 | 613541 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | CACNA1G CL E G H | 8913 | 616795 | Spinocerebellar ataxia 42 | 616795 | C4225205 | OMIM | 1 | | 445 | 1394 | 604065 |
HP:0100543 | HP:0033630 | Brain fog | 1 | CACNA1G CL E G H | 8913 | 616795 | Spinocerebellar ataxia 42 | 616795 | C4225205 | OMIM | 1 | | 445 | 1394 | 604065 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | CACNA1G CL E G H | 8913 | 616795 | Spinocerebellar ataxia 42 | 616795 | C4225205 | OMIM | 1 | | 445 | 1394 | 604065 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | CACNA1G CL E G H | 8913 | 616795 | Spinocerebellar ataxia 42 | 616795 | C4225205 | OMIM | 1 | | 445 | 1394 | 604065 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | CACNA1G CL E G H | 8913 | 616795 | Spinocerebellar ataxia 42 | 616795 | C4225205 | OMIM | 1 | | 445 | 1394 | 604065 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | CCDC78 CL E G H | 124093 | 614807 | Myopathy, centronuclear, 4 | 614807 | C3553709 | OMIM | 1 | | 458 | 14153 | 614666 |
HP:0100543 | HP:0033630 | Brain fog | 1 | CCDC78 CL E G H | 124093 | 614807 | Myopathy, centronuclear, 4 | 614807 | C3553709 | OMIM | 1 | | 458 | 14153 | 614666 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | CCDC78 CL E G H | 124093 | 614807 | Myopathy, centronuclear, 4 | 614807 | C3553709 | OMIM | 1 | | 458 | 14153 | 614666 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | CCDC78 CL E G H | 124093 | 614807 | Myopathy, centronuclear, 4 | 614807 | C3553709 | OMIM | 1 | | 458 | 14153 | 614666 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | CCDC78 CL E G H | 124093 | 614807 | Myopathy, centronuclear, 4 | 614807 | C3553709 | OMIM | 1 | | 458 | 14153 | 614666 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | CENPE CL E G H | 1062 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 272 | 1856 | 117143 |
HP:0100543 | HP:0033630 | Brain fog | 1 | CENPE CL E G H | 1062 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 272 | 1856 | 117143 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | CENPE CL E G H | 1062 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 272 | 1856 | 117143 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | CENPE CL E G H | 1062 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 272 | 1856 | 117143 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | CENPE CL E G H | 1062 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 272 | 1856 | 117143 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | CENPJ CL E G H | 55835 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 438 | 17272 | 609279 |
HP:0100543 | HP:0033630 | Brain fog | 1 | CENPJ CL E G H | 55835 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 438 | 17272 | 609279 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | CENPJ CL E G H | 55835 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 438 | 17272 | 609279 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | CENPJ CL E G H | 55835 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 438 | 17272 | 609279 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | CENPJ CL E G H | 55835 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 438 | 17272 | 609279 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | CEP120 CL E G H | 153241 | 617761 | JOUBERT SYNDROME 31 | 617761 | C4540355 | OMIM | 1 | | 305 | 26690 | 613446 |
HP:0100543 | HP:0033630 | Brain fog | 1 | CEP120 CL E G H | 153241 | 617761 | JOUBERT SYNDROME 31 | 617761 | C4540355 | OMIM | 1 | | 305 | 26690 | 613446 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | CEP120 CL E G H | 153241 | 617761 | JOUBERT SYNDROME 31 | 617761 | C4540355 | OMIM | 1 | | 305 | 26690 | 613446 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | CEP120 CL E G H | 153241 | 617761 | JOUBERT SYNDROME 31 | 617761 | C4540355 | OMIM | 1 | | 305 | 26690 | 613446 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | CEP120 CL E G H | 153241 | 617761 | JOUBERT SYNDROME 31 | 617761 | C4540355 | OMIM | 1 | | 305 | 26690 | 613446 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | CEP152 CL E G H | 22995 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 450 | 29298 | 613529 |
HP:0100543 | HP:0033630 | Brain fog | 1 | CEP152 CL E G H | 22995 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 450 | 29298 | 613529 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | CEP152 CL E G H | 22995 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 450 | 29298 | 613529 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | CEP152 CL E G H | 22995 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 450 | 29298 | 613529 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | CEP152 CL E G H | 22995 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 450 | 29298 | 613529 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | CLCF1 CL E G H | 23529 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 33 | 17412 | 607672 |
HP:0100543 | HP:0033630 | Brain fog | 1 | CLCF1 CL E G H | 23529 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 33 | 17412 | 607672 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | CLCF1 CL E G H | 23529 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 33 | 17412 | 607672 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | CLCF1 CL E G H | 23529 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 33 | 17412 | 607672 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | CLCF1 CL E G H | 23529 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 33 | 17412 | 607672 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | CLMP CL E G H | 79827 | 2301 | | | | ORPHA | 1 | | 66 | 24039 | 611693 |
HP:0100543 | HP:0033630 | Brain fog | 1 | CLMP CL E G H | 79827 | 2301 | | | | ORPHA | 1 | | 66 | 24039 | 611693 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | CLMP CL E G H | 79827 | 2301 | | | | ORPHA | 1 | | 66 | 24039 | 611693 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | CLMP CL E G H | 79827 | 2301 | | | | ORPHA | 1 | | 66 | 24039 | 611693 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | CLMP CL E G H | 79827 | 2301 | | | | ORPHA | 1 | | 66 | 24039 | 611693 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | COASY CL E G H | 80347 | 397725 | | | | ORPHA | 1 | | 175 | 29932 | 609855 |
HP:0100543 | HP:0033630 | Brain fog | 1 | COASY CL E G H | 80347 | 397725 | | | | ORPHA | 1 | | 175 | 29932 | 609855 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | COASY CL E G H | 80347 | 397725 | | | | ORPHA | 1 | | 175 | 29932 | 609855 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | COASY CL E G H | 80347 | 397725 | | | | ORPHA | 1 | | 175 | 29932 | 609855 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | COASY CL E G H | 80347 | 397725 | | | | ORPHA | 1 | | 175 | 29932 | 609855 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | COL3A1 CL E G H | 1281 | 286 | Imaizumi Kuroki syndrome | | | ORPHA | 1 | | 2274 | 2201 | 120180 |
HP:0100543 | HP:0033630 | Brain fog | 1 | COL3A1 CL E G H | 1281 | 286 | Imaizumi Kuroki syndrome | | | ORPHA | 1 | | 2274 | 2201 | 120180 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | COL3A1 CL E G H | 1281 | 286 | Imaizumi Kuroki syndrome | | | ORPHA | 1 | | 2274 | 2201 | 120180 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | COL3A1 CL E G H | 1281 | 286 | Imaizumi Kuroki syndrome | | | ORPHA | 1 | | 2274 | 2201 | 120180 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | COL3A1 CL E G H | 1281 | 286 | Imaizumi Kuroki syndrome | | | ORPHA | 1 | | 2274 | 2201 | 120180 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | COL5A1 CL E G H | 1289 | 286 | Imaizumi Kuroki syndrome | | | ORPHA | 1 | | 2531 | 2209 | 120215 |
HP:0100543 | HP:0033630 | Brain fog | 1 | COL5A1 CL E G H | 1289 | 286 | Imaizumi Kuroki syndrome | | | ORPHA | 1 | | 2531 | 2209 | 120215 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | COL5A1 CL E G H | 1289 | 286 | Imaizumi Kuroki syndrome | | | ORPHA | 1 | | 2531 | 2209 | 120215 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | COL5A1 CL E G H | 1289 | 286 | Imaizumi Kuroki syndrome | | | ORPHA | 1 | | 2531 | 2209 | 120215 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | COL5A1 CL E G H | 1289 | 286 | Imaizumi Kuroki syndrome | | | ORPHA | 1 | | 2531 | 2209 | 120215 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | CRLF1 CL E G H | 9244 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 80 | 2364 | 604237 |
HP:0100543 | HP:0033630 | Brain fog | 1 | CRLF1 CL E G H | 9244 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 80 | 2364 | 604237 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | CRLF1 CL E G H | 9244 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 80 | 2364 | 604237 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | CRLF1 CL E G H | 9244 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 80 | 2364 | 604237 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | CRLF1 CL E G H | 9244 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 80 | 2364 | 604237 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | CTDP1 CL E G H | 9150 | 604168 | Congenital Cataracts, Facial Dysmorphism, and Neuropathy | 604168 | C1858726 | OMIM | 1 | | 383 | 2498 | 604927 |
HP:0100543 | HP:0033630 | Brain fog | 1 | CTDP1 CL E G H | 9150 | 604168 | Congenital Cataracts, Facial Dysmorphism, and Neuropathy | 604168 | C1858726 | OMIM | 1 | | 383 | 2498 | 604927 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | CTDP1 CL E G H | 9150 | 604168 | Congenital Cataracts, Facial Dysmorphism, and Neuropathy | 604168 | C1858726 | OMIM | 1 | | 383 | 2498 | 604927 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | CTDP1 CL E G H | 9150 | 604168 | Congenital Cataracts, Facial Dysmorphism, and Neuropathy | 604168 | C1858726 | OMIM | 1 | | 383 | 2498 | 604927 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | CTDP1 CL E G H | 9150 | 604168 | Congenital Cataracts, Facial Dysmorphism, and Neuropathy | 604168 | C1858726 | OMIM | 1 | | 383 | 2498 | 604927 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 119 | 2718 | 600811 |
HP:0100543 | HP:0033630 | Brain fog | 1 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 119 | 2718 | 600811 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 119 | 2718 | 600811 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 119 | 2718 | 600811 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 119 | 2718 | 600811 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | DGUOK CL E G H | 1716 | 617070 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | 617070 | C4310733 | OMIM | 1 | | 167 | 2858 | 601465 |
HP:0100543 | HP:0033630 | Brain fog | 1 | DGUOK CL E G H | 1716 | 617070 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | 617070 | C4310733 | OMIM | 1 | | 167 | 2858 | 601465 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | DGUOK CL E G H | 1716 | 617070 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | 617070 | C4310733 | OMIM | 1 | | 167 | 2858 | 601465 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | DGUOK CL E G H | 1716 | 617070 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | 617070 | C4310733 | OMIM | 1 | | 167 | 2858 | 601465 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | DGUOK CL E G H | 1716 | 617070 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | 617070 | C4310733 | OMIM | 1 | | 167 | 2858 | 601465 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | DMD CL E G H | 1756 | 98896 | | | | ORPHA | 1 | | 7370 | 2928 | 300377 |
HP:0100543 | HP:0033630 | Brain fog | 1 | DMD CL E G H | 1756 | 98896 | | | | ORPHA | 1 | | 7370 | 2928 | 300377 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | DMD CL E G H | 1756 | 98896 | | | | ORPHA | 1 | | 7370 | 2928 | 300377 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | DMD CL E G H | 1756 | 98896 | | | | ORPHA | 1 | | 7370 | 2928 | 300377 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | DMD CL E G H | 1756 | 98896 | | | | ORPHA | 1 | | 7370 | 2928 | 300377 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | DNAJC6 CL E G H | 9829 | 615528 | Parkinson disease 19a, juvenile-onset | 615528 | C3809811 | OMIM | 1 | | 235 | 15469 | 608375 |
HP:0100543 | HP:0033630 | Brain fog | 1 | DNAJC6 CL E G H | 9829 | 615528 | Parkinson disease 19a, juvenile-onset | 615528 | C3809811 | OMIM | 1 | | 235 | 15469 | 608375 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | DNAJC6 CL E G H | 9829 | 615528 | Parkinson disease 19a, juvenile-onset | 615528 | C3809811 | OMIM | 1 | | 235 | 15469 | 608375 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | DNAJC6 CL E G H | 9829 | 615528 | Parkinson disease 19a, juvenile-onset | 615528 | C3809811 | OMIM | 1 | | 235 | 15469 | 608375 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | DNAJC6 CL E G H | 9829 | 615528 | Parkinson disease 19a, juvenile-onset | 615528 | C3809811 | OMIM | 1 | | 235 | 15469 | 608375 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | DOLK CL E G H | 22845 | 91131 | | | | ORPHA | 1 | | 424 | 23406 | 610746 |
HP:0100543 | HP:0033630 | Brain fog | 1 | DOLK CL E G H | 22845 | 91131 | | | | ORPHA | 1 | | 424 | 23406 | 610746 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | DOLK CL E G H | 22845 | 91131 | | | | ORPHA | 1 | | 424 | 23406 | 610746 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | DOLK CL E G H | 22845 | 91131 | | | | ORPHA | 1 | | 424 | 23406 | 610746 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | DOLK CL E G H | 22845 | 91131 | | | | ORPHA | 1 | | 424 | 23406 | 610746 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | DSTYK CL E G H | 25778 | 270750 | Spastic paraplegia 23 | 270750 | C0796019 | OMIM | 1 | | 102 | 29043 | 612666 |
HP:0100543 | HP:0033630 | Brain fog | 1 | DSTYK CL E G H | 25778 | 270750 | Spastic paraplegia 23 | 270750 | C0796019 | OMIM | 1 | | 102 | 29043 | 612666 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | DSTYK CL E G H | 25778 | 270750 | Spastic paraplegia 23 | 270750 | C0796019 | OMIM | 1 | | 102 | 29043 | 612666 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | DSTYK CL E G H | 25778 | 270750 | Spastic paraplegia 23 | 270750 | C0796019 | OMIM | 1 | | 102 | 29043 | 612666 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | DSTYK CL E G H | 25778 | 270750 | Spastic paraplegia 23 | 270750 | C0796019 | OMIM | 1 | | 102 | 29043 | 612666 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | EPRS CL E G H | 2058 | 617951 | LEUKODYSTROPHY, HYPOMYELINATING, 15 | 617951 | CN244566 | OMIM | 1 | | | 3418 | 138295 |
HP:0100543 | HP:0033630 | Brain fog | 1 | EPRS CL E G H | 2058 | 617951 | LEUKODYSTROPHY, HYPOMYELINATING, 15 | 617951 | CN244566 | OMIM | 1 | | | 3418 | 138295 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | EPRS CL E G H | 2058 | 617951 | LEUKODYSTROPHY, HYPOMYELINATING, 15 | 617951 | CN244566 | OMIM | 1 | | | 3418 | 138295 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | EPRS CL E G H | 2058 | 617951 | LEUKODYSTROPHY, HYPOMYELINATING, 15 | 617951 | CN244566 | OMIM | 1 | | | 3418 | 138295 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | EPRS CL E G H | 2058 | 617951 | LEUKODYSTROPHY, HYPOMYELINATING, 15 | 617951 | CN244566 | OMIM | 1 | | | 3418 | 138295 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 1196 | 3434 | 126340 |
HP:0100543 | HP:0033630 | Brain fog | 1 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 1196 | 3434 | 126340 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 1196 | 3434 | 126340 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 1196 | 3434 | 126340 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 1196 | 3434 | 126340 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 368 | 3435 | 133510 |
HP:0100543 | HP:0033630 | Brain fog | 1 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 368 | 3435 | 133510 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 368 | 3435 | 133510 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 368 | 3435 | 133510 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 368 | 3435 | 133510 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | ERCC3 CL E G H | 2071 | 616390 | Trichothiodystrophy 2, photosensitive | 616390 | C4225344 | OMIM | 1 | | 368 | 3435 | 133510 |
HP:0100543 | HP:0033630 | Brain fog | 1 | ERCC3 CL E G H | 2071 | 616390 | Trichothiodystrophy 2, photosensitive | 616390 | C4225344 | OMIM | 1 | | 368 | 3435 | 133510 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | ERCC3 CL E G H | 2071 | 616390 | Trichothiodystrophy 2, photosensitive | 616390 | C4225344 | OMIM | 1 | | 368 | 3435 | 133510 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | ERCC3 CL E G H | 2071 | 616390 | Trichothiodystrophy 2, photosensitive | 616390 | C4225344 | OMIM | 1 | | 368 | 3435 | 133510 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | ERCC3 CL E G H | 2071 | 616390 | Trichothiodystrophy 2, photosensitive | 616390 | C4225344 | OMIM | 1 | | 368 | 3435 | 133510 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 602 | 3436 | 133520 |
HP:0100543 | HP:0033630 | Brain fog | 1 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 602 | 3436 | 133520 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 602 | 3436 | 133520 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 602 | 3436 | 133520 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 602 | 3436 | 133520 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 425 | 3437 | 133530 |
HP:0100543 | HP:0033630 | Brain fog | 1 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 425 | 3437 | 133530 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 425 | 3437 | 133530 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 425 | 3437 | 133530 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 1 | | 425 | 3437 | 133530 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | ERF CL E G H | 2077 | 2343 | | | | ORPHA | 1 | | 131 | 3444 | 611888 |
HP:0100543 | HP:0033630 | Brain fog | 1 | ERF CL E G H | 2077 | 2343 | | | | ORPHA | 1 | | 131 | 3444 | 611888 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | ERF CL E G H | 2077 | 2343 | | | | ORPHA | 1 | | 131 | 3444 | 611888 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | ERF CL E G H | 2077 | 2343 | | | | ORPHA | 1 | | 131 | 3444 | 611888 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | ERF CL E G H | 2077 | 2343 | | | | ORPHA | 1 | | 131 | 3444 | 611888 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | FAS CL E G H | 355 | 3437 | | | | ORPHA | 1 | | 313 | 11920 | 134637 |
HP:0100543 | HP:0033630 | Brain fog | 1 | FAS CL E G H | 355 | 3437 | | | | ORPHA | 1 | | 313 | 11920 | 134637 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | FAS CL E G H | 355 | 3437 | | | | ORPHA | 1 | | 313 | 11920 | 134637 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | FAS CL E G H | 355 | 3437 | | | | ORPHA | 1 | | 313 | 11920 | 134637 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | FAS CL E G H | 355 | 3437 | | | | ORPHA | 1 | | 313 | 11920 | 134637 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | FBN1 CL E G H | 2200 | 1885 | Distal myopathy | | C0751336 | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0100543 | HP:0033630 | Brain fog | 1 | FBN1 CL E G H | 2200 | 1885 | Distal myopathy | | C0751336 | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | FBN1 CL E G H | 2200 | 1885 | Distal myopathy | | C0751336 | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | FBN1 CL E G H | 2200 | 1885 | Distal myopathy | | C0751336 | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | FBN1 CL E G H | 2200 | 1885 | Distal myopathy | | C0751336 | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | FGD1 CL E G H | 2245 | 915 | | | | ORPHA | 1 | | 346 | 3663 | 300546 |
HP:0100543 | HP:0033630 | Brain fog | 1 | FGD1 CL E G H | 2245 | 915 | | | | ORPHA | 1 | | 346 | 3663 | 300546 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | FGD1 CL E G H | 2245 | 915 | | | | ORPHA | 1 | | 346 | 3663 | 300546 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | FGD1 CL E G H | 2245 | 915 | | | | ORPHA | 1 | | 346 | 3663 | 300546 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | FGD1 CL E G H | 2245 | 915 | | | | ORPHA | 1 | | 346 | 3663 | 300546 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | FGFR3 CL E G H | 2261 | 93274 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0100543 | HP:0033630 | Brain fog | 1 | FGFR3 CL E G H | 2261 | 93274 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | FGFR3 CL E G H | 2261 | 93274 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | FGFR3 CL E G H | 2261 | 93274 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | FGFR3 CL E G H | 2261 | 93274 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | FKRP CL E G H | 79147 | 588 | | | | ORPHA | 1 | | 787 | 17997 | 606596 |
HP:0100543 | HP:0033630 | Brain fog | 1 | FKRP CL E G H | 79147 | 588 | | | | ORPHA | 1 | | 787 | 17997 | 606596 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | FKRP CL E G H | 79147 | 588 | | | | ORPHA | 1 | | 787 | 17997 | 606596 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | FKRP CL E G H | 79147 | 588 | | | | ORPHA | 1 | | 787 | 17997 | 606596 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | FKRP CL E G H | 79147 | 588 | | | | ORPHA | 1 | | 787 | 17997 | 606596 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | FKTN CL E G H | 2218 | 588 | | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0100543 | HP:0033630 | Brain fog | 1 | FKTN CL E G H | 2218 | 588 | | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | FKTN CL E G H | 2218 | 588 | | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | FKTN CL E G H | 2218 | 588 | | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | FKTN CL E G H | 2218 | 588 | | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | FLNA CL E G H | 2316 | 2301 | | | | ORPHA | 1 | | 2538 | 3754 | 300017 |
HP:0100543 | HP:0033630 | Brain fog | 1 | FLNA CL E G H | 2316 | 2301 | | | | ORPHA | 1 | | 2538 | 3754 | 300017 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | FLNA CL E G H | 2316 | 2301 | | | | ORPHA | 1 | | 2538 | 3754 | 300017 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | FLNA CL E G H | 2316 | 2301 | | | | ORPHA | 1 | | 2538 | 3754 | 300017 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | FLNA CL E G H | 2316 | 2301 | | | | ORPHA | 1 | | 2538 | 3754 | 300017 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | GBE1 CL E G H | 2632 | 263570 | Polyglucosan body disease, adult | 263570 | C1849722 | OMIM | 1 | | 600 | 4180 | 607839 |
HP:0100543 | HP:0033630 | Brain fog | 1 | GBE1 CL E G H | 2632 | 263570 | Polyglucosan body disease, adult | 263570 | C1849722 | OMIM | 1 | | 600 | 4180 | 607839 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | GBE1 CL E G H | 2632 | 263570 | Polyglucosan body disease, adult | 263570 | C1849722 | OMIM | 1 | | 600 | 4180 | 607839 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | GBE1 CL E G H | 2632 | 263570 | Polyglucosan body disease, adult | 263570 | C1849722 | OMIM | 1 | | 600 | 4180 | 607839 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | GBE1 CL E G H | 2632 | 263570 | Polyglucosan body disease, adult | 263570 | C1849722 | OMIM | 1 | | 600 | 4180 | 607839 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | GDF5 CL E G H | 8200 | 968 | | | | ORPHA | 1 | | 175 | 4220 | 601146 |
HP:0100543 | HP:0033630 | Brain fog | 1 | GDF5 CL E G H | 8200 | 968 | | | | ORPHA | 1 | | 175 | 4220 | 601146 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | GDF5 CL E G H | 8200 | 968 | | | | ORPHA | 1 | | 175 | 4220 | 601146 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | GDF5 CL E G H | 8200 | 968 | | | | ORPHA | 1 | | 175 | 4220 | 601146 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | GDF5 CL E G H | 8200 | 968 | | | | ORPHA | 1 | | 175 | 4220 | 601146 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | GJB2 CL E G H | 2706 | 494 | | | | ORPHA | 1 | | 516 | 4284 | 121011 |
HP:0100543 | HP:0033630 | Brain fog | 1 | GJB2 CL E G H | 2706 | 494 | | | | ORPHA | 1 | | 516 | 4284 | 121011 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | GJB2 CL E G H | 2706 | 494 | | | | ORPHA | 1 | | 516 | 4284 | 121011 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | GJB2 CL E G H | 2706 | 494 | | | | ORPHA | 1 | | 516 | 4284 | 121011 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | GJB2 CL E G H | 2706 | 494 | | | | ORPHA | 1 | | 516 | 4284 | 121011 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | GJC2 CL E G H | 57165 | 608804 | Leukodystrophy, hypomyelinating, 2 | 608804 | C1837355 | OMIM | 1 | | 250 | 17494 | 608803 |
HP:0100543 | HP:0033630 | Brain fog | 1 | GJC2 CL E G H | 57165 | 608804 | Leukodystrophy, hypomyelinating, 2 | 608804 | C1837355 | OMIM | 1 | | 250 | 17494 | 608803 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | GJC2 CL E G H | 57165 | 608804 | Leukodystrophy, hypomyelinating, 2 | 608804 | C1837355 | OMIM | 1 | | 250 | 17494 | 608803 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | GJC2 CL E G H | 57165 | 608804 | Leukodystrophy, hypomyelinating, 2 | 608804 | C1837355 | OMIM | 1 | | 250 | 17494 | 608803 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | GJC2 CL E G H | 57165 | 608804 | Leukodystrophy, hypomyelinating, 2 | 608804 | C1837355 | OMIM | 1 | | 250 | 17494 | 608803 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | GJC2 CL E G H | 57165 | 613206 | Spastic paraplegia 44, autosomal recessive | 613206 | C2750784 | OMIM | 1 | | 250 | 17494 | 608803 |
HP:0100543 | HP:0033630 | Brain fog | 1 | GJC2 CL E G H | 57165 | 613206 | Spastic paraplegia 44, autosomal recessive | 613206 | C2750784 | OMIM | 1 | | 250 | 17494 | 608803 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | GJC2 CL E G H | 57165 | 613206 | Spastic paraplegia 44, autosomal recessive | 613206 | C2750784 | OMIM | 1 | | 250 | 17494 | 608803 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | GJC2 CL E G H | 57165 | 613206 | Spastic paraplegia 44, autosomal recessive | 613206 | C2750784 | OMIM | 1 | | 250 | 17494 | 608803 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | GJC2 CL E G H | 57165 | 613206 | Spastic paraplegia 44, autosomal recessive | 613206 | C2750784 | OMIM | 1 | | 250 | 17494 | 608803 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | GLA CL E G H | 2717 | 324 | Slti Salem syndrome | | | ORPHA | 1 | | 1002 | 4296 | 300644 |
HP:0100543 | HP:0033630 | Brain fog | 1 | GLA CL E G H | 2717 | 324 | Slti Salem syndrome | | | ORPHA | 1 | | 1002 | 4296 | 300644 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | GLA CL E G H | 2717 | 324 | Slti Salem syndrome | | | ORPHA | 1 | | 1002 | 4296 | 300644 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | GLA CL E G H | 2717 | 324 | Slti Salem syndrome | | | ORPHA | 1 | | 1002 | 4296 | 300644 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | GLA CL E G H | 2717 | 324 | Slti Salem syndrome | | | ORPHA | 1 | | 1002 | 4296 | 300644 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | GM2A CL E G H | 2760 | 309246 | | | | ORPHA | 1 | | 166 | 4367 | 613109 |
HP:0100543 | HP:0033630 | Brain fog | 1 | GM2A CL E G H | 2760 | 309246 | | | | ORPHA | 1 | | 166 | 4367 | 613109 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | GM2A CL E G H | 2760 | 309246 | | | | ORPHA | 1 | | 166 | 4367 | 613109 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | GM2A CL E G H | 2760 | 309246 | | | | ORPHA | 1 | | 166 | 4367 | 613109 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | GM2A CL E G H | 2760 | 309246 | | | | ORPHA | 1 | | 166 | 4367 | 613109 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | GMPPB CL E G H | 29925 | 588 | | | | ORPHA | 1 | | 273 | 22932 | 615320 |
HP:0100543 | HP:0033630 | Brain fog | 1 | GMPPB CL E G H | 29925 | 588 | | | | ORPHA | 1 | | 273 | 22932 | 615320 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | GMPPB CL E G H | 29925 | 588 | | | | ORPHA | 1 | | 273 | 22932 | 615320 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | GMPPB CL E G H | 29925 | 588 | | | | ORPHA | 1 | | 273 | 22932 | 615320 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | GMPPB CL E G H | 29925 | 588 | | | | ORPHA | 1 | | 273 | 22932 | 615320 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | GNAS CL E G H | 2778 | 103580 | Pseudohypoparathyroidism | 103580 | C0033806 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0100543 | HP:0033630 | Brain fog | 1 | GNAS CL E G H | 2778 | 103580 | Pseudohypoparathyroidism | 103580 | C0033806 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | GNAS CL E G H | 2778 | 103580 | Pseudohypoparathyroidism | 103580 | C0033806 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | GNAS CL E G H | 2778 | 103580 | Pseudohypoparathyroidism | 103580 | C0033806 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | GNAS CL E G H | 2778 | 103580 | Pseudohypoparathyroidism | 103580 | C0033806 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | GNAS CL E G H | 2778 | 612462 | Pseudohypoparathyroidism type 1C | 612462 | C2932716 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0100543 | HP:0033630 | Brain fog | 1 | GNAS CL E G H | 2778 | 612462 | Pseudohypoparathyroidism type 1C | 612462 | C2932716 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | GNAS CL E G H | 2778 | 612462 | Pseudohypoparathyroidism type 1C | 612462 | C2932716 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | GNAS CL E G H | 2778 | 612462 | Pseudohypoparathyroidism type 1C | 612462 | C2932716 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | GNAS CL E G H | 2778 | 612462 | Pseudohypoparathyroidism type 1C | 612462 | C2932716 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | GNAS CL E G H | 2778 | 612463 | Pseudopseudohypoparathyroidism | 612463 | C0033835 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0100543 | HP:0033630 | Brain fog | 1 | GNAS CL E G H | 2778 | 612463 | Pseudopseudohypoparathyroidism | 612463 | C0033835 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | GNAS CL E G H | 2778 | 612463 | Pseudopseudohypoparathyroidism | 612463 | C0033835 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | GNAS CL E G H | 2778 | 612463 | Pseudopseudohypoparathyroidism | 612463 | C0033835 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | GNAS CL E G H | 2778 | 612463 | Pseudopseudohypoparathyroidism | 612463 | C0033835 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | GRID2 CL E G H | 2895 | 363432 | | | | ORPHA | 1 | | 158 | 4576 | 602368 |
HP:0100543 | HP:0033630 | Brain fog | 1 | GRID2 CL E G H | 2895 | 363432 | | | | ORPHA | 1 | | 158 | 4576 | 602368 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | GRID2 CL E G H | 2895 | 363432 | | | | ORPHA | 1 | | 158 | 4576 | 602368 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | GRID2 CL E G H | 2895 | 363432 | | | | ORPHA | 1 | | 158 | 4576 | 602368 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | GRID2 CL E G H | 2895 | 363432 | | | | ORPHA | 1 | | 158 | 4576 | 602368 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | GRID2 CL E G H | 2895 | 616204 | Spinocerebellar ataxia, autosomal recessive 18 | 616204 | C4015505 | OMIM | 1 | | 158 | 4576 | 602368 |
HP:0100543 | HP:0033630 | Brain fog | 1 | GRID2 CL E G H | 2895 | 616204 | Spinocerebellar ataxia, autosomal recessive 18 | 616204 | C4015505 | OMIM | 1 | | 158 | 4576 | 602368 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | GRID2 CL E G H | 2895 | 616204 | Spinocerebellar ataxia, autosomal recessive 18 | 616204 | C4015505 | OMIM | 1 | | 158 | 4576 | 602368 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | GRID2 CL E G H | 2895 | 616204 | Spinocerebellar ataxia, autosomal recessive 18 | 616204 | C4015505 | OMIM | 1 | | 158 | 4576 | 602368 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | GRID2 CL E G H | 2895 | 616204 | Spinocerebellar ataxia, autosomal recessive 18 | 616204 | C4015505 | OMIM | 1 | | 158 | 4576 | 602368 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0100543 | HP:0033630 | Brain fog | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 178 | 27302 | 615316 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | INSR CL E G H | 3643 | 508 | Acroosteolysis dominant type | | | ORPHA | 1 | | 553 | 6091 | 147670 |
HP:0100543 | HP:0033630 | Brain fog | 1 | INSR CL E G H | 3643 | 508 | Acroosteolysis dominant type | | | ORPHA | 1 | | 553 | 6091 | 147670 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | INSR CL E G H | 3643 | 508 | Acroosteolysis dominant type | | | ORPHA | 1 | | 553 | 6091 | 147670 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | INSR CL E G H | 3643 | 508 | Acroosteolysis dominant type | | | ORPHA | 1 | | 553 | 6091 | 147670 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | INSR CL E G H | 3643 | 508 | Acroosteolysis dominant type | | | ORPHA | 1 | | 553 | 6091 | 147670 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | ITGA7 CL E G H | 3679 | 613204 | Muscular dystrophy, congenital, due to integrin alpha-7 deficiency | 613204 | C2750786 | OMIM | 1 | | 718 | 6143 | 600536 |
HP:0100543 | HP:0033630 | Brain fog | 1 | ITGA7 CL E G H | 3679 | 613204 | Muscular dystrophy, congenital, due to integrin alpha-7 deficiency | 613204 | C2750786 | OMIM | 1 | | 718 | 6143 | 600536 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | ITGA7 CL E G H | 3679 | 613204 | Muscular dystrophy, congenital, due to integrin alpha-7 deficiency | 613204 | C2750786 | OMIM | 1 | | 718 | 6143 | 600536 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | ITGA7 CL E G H | 3679 | 613204 | Muscular dystrophy, congenital, due to integrin alpha-7 deficiency | 613204 | C2750786 | OMIM | 1 | | 718 | 6143 | 600536 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | ITGA7 CL E G H | 3679 | 613204 | Muscular dystrophy, congenital, due to integrin alpha-7 deficiency | 613204 | C2750786 | OMIM | 1 | | 718 | 6143 | 600536 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 1134 | 6180 | 147265 |
HP:0100543 | HP:0033630 | Brain fog | 1 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 1134 | 6180 | 147265 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 1134 | 6180 | 147265 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 1134 | 6180 | 147265 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 1134 | 6180 | 147265 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | ITPR1 CL E G H | 3708 | 117360 | Spinocerebellar ataxia 29 | 117360 | C1861732 | OMIM | 1 | | 1134 | 6180 | 147265 |
HP:0100543 | HP:0033630 | Brain fog | 1 | ITPR1 CL E G H | 3708 | 117360 | Spinocerebellar ataxia 29 | 117360 | C1861732 | OMIM | 1 | | 1134 | 6180 | 147265 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | ITPR1 CL E G H | 3708 | 117360 | Spinocerebellar ataxia 29 | 117360 | C1861732 | OMIM | 1 | | 1134 | 6180 | 147265 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | ITPR1 CL E G H | 3708 | 117360 | Spinocerebellar ataxia 29 | 117360 | C1861732 | OMIM | 1 | | 1134 | 6180 | 147265 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | ITPR1 CL E G H | 3708 | 117360 | Spinocerebellar ataxia 29 | 117360 | C1861732 | OMIM | 1 | | 1134 | 6180 | 147265 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | KATNB1 CL E G H | 10300 | 616212 | Lissencephaly 6, with microcephaly | 616212 | C4015525 | OMIM | 1 | | 188 | 6217 | 602703 |
HP:0100543 | HP:0033630 | Brain fog | 1 | KATNB1 CL E G H | 10300 | 616212 | Lissencephaly 6, with microcephaly | 616212 | C4015525 | OMIM | 1 | | 188 | 6217 | 602703 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | KATNB1 CL E G H | 10300 | 616212 | Lissencephaly 6, with microcephaly | 616212 | C4015525 | OMIM | 1 | | 188 | 6217 | 602703 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | KATNB1 CL E G H | 10300 | 616212 | Lissencephaly 6, with microcephaly | 616212 | C4015525 | OMIM | 1 | | 188 | 6217 | 602703 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | KATNB1 CL E G H | 10300 | 616212 | Lissencephaly 6, with microcephaly | 616212 | C4015525 | OMIM | 1 | | 188 | 6217 | 602703 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | KCNT1 CL E G H | 57582 | 615005 | Epilepsy, nocturnal frontal lobe, 5 | 615005 | C3554306 | OMIM | 1 | | 1678 | 18865 | 608167 |
HP:0100543 | HP:0033630 | Brain fog | 1 | KCNT1 CL E G H | 57582 | 615005 | Epilepsy, nocturnal frontal lobe, 5 | 615005 | C3554306 | OMIM | 1 | | 1678 | 18865 | 608167 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | KCNT1 CL E G H | 57582 | 615005 | Epilepsy, nocturnal frontal lobe, 5 | 615005 | C3554306 | OMIM | 1 | | 1678 | 18865 | 608167 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | KCNT1 CL E G H | 57582 | 615005 | Epilepsy, nocturnal frontal lobe, 5 | 615005 | C3554306 | OMIM | 1 | | 1678 | 18865 | 608167 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | KCNT1 CL E G H | 57582 | 615005 | Epilepsy, nocturnal frontal lobe, 5 | 615005 | C3554306 | OMIM | 1 | | 1678 | 18865 | 608167 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | KLLN CL E G H | 100144748 | 201 | | | | ORPHA | 1 | | 316 | 37212 | 612105 |
HP:0100543 | HP:0033630 | Brain fog | 1 | KLLN CL E G H | 100144748 | 201 | | | | ORPHA | 1 | | 316 | 37212 | 612105 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | KLLN CL E G H | 100144748 | 201 | | | | ORPHA | 1 | | 316 | 37212 | 612105 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | KLLN CL E G H | 100144748 | 201 | | | | ORPHA | 1 | | 316 | 37212 | 612105 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | KLLN CL E G H | 100144748 | 201 | | | | ORPHA | 1 | | 316 | 37212 | 612105 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | LAGE3 CL E G H | 8270 | 2065 | | | | ORPHA | 1 | | 233 | 26058 | 300060 |
HP:0100543 | HP:0033630 | Brain fog | 1 | LAGE3 CL E G H | 8270 | 2065 | | | | ORPHA | 1 | | 233 | 26058 | 300060 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | LAGE3 CL E G H | 8270 | 2065 | | | | ORPHA | 1 | | 233 | 26058 | 300060 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | LAGE3 CL E G H | 8270 | 2065 | | | | ORPHA | 1 | | 233 | 26058 | 300060 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | LAGE3 CL E G H | 8270 | 2065 | | | | ORPHA | 1 | | 233 | 26058 | 300060 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | LAMP2 CL E G H | 3920 | 300257 | Danon disease | 300257 | C0878677 | OMIM | 1 | | 759 | 6501 | 309060 |
HP:0100543 | HP:0033630 | Brain fog | 1 | LAMP2 CL E G H | 3920 | 300257 | Danon disease | 300257 | C0878677 | OMIM | 1 | | 759 | 6501 | 309060 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | LAMP2 CL E G H | 3920 | 300257 | Danon disease | 300257 | C0878677 | OMIM | 1 | | 759 | 6501 | 309060 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | LAMP2 CL E G H | 3920 | 300257 | Danon disease | 300257 | C0878677 | OMIM | 1 | | 759 | 6501 | 309060 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | LAMP2 CL E G H | 3920 | 300257 | Danon disease | 300257 | C0878677 | OMIM | 1 | | 759 | 6501 | 309060 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | LARGE1 CL E G H | 9215 | 588 | | | | ORPHA | 1 | | 658 | 6511 | 603590 |
HP:0100543 | HP:0033630 | Brain fog | 1 | LARGE1 CL E G H | 9215 | 588 | | | | ORPHA | 1 | | 658 | 6511 | 603590 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | LARGE1 CL E G H | 9215 | 588 | | | | ORPHA | 1 | | 658 | 6511 | 603590 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | LARGE1 CL E G H | 9215 | 588 | | | | ORPHA | 1 | | 658 | 6511 | 603590 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | LARGE1 CL E G H | 9215 | 588 | | | | ORPHA | 1 | | 658 | 6511 | 603590 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | LTBP4 CL E G H | 8425 | 98896 | | | | ORPHA | 1 | | 540 | 6717 | 604710 |
HP:0100543 | HP:0033630 | Brain fog | 1 | LTBP4 CL E G H | 8425 | 98896 | | | | ORPHA | 1 | | 540 | 6717 | 604710 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | LTBP4 CL E G H | 8425 | 98896 | | | | ORPHA | 1 | | 540 | 6717 | 604710 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | LTBP4 CL E G H | 8425 | 98896 | | | | ORPHA | 1 | | 540 | 6717 | 604710 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | LTBP4 CL E G H | 8425 | 98896 | | | | ORPHA | 1 | | 540 | 6717 | 604710 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | LZTFL1 CL E G H | 54585 | 615994 | Bardet-Biedl syndrome 17 | 615994 | C3714980 | OMIM | 1 | | 110 | 6741 | 606568 |
HP:0100543 | HP:0033630 | Brain fog | 1 | LZTFL1 CL E G H | 54585 | 615994 | Bardet-Biedl syndrome 17 | 615994 | C3714980 | OMIM | 1 | | 110 | 6741 | 606568 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | LZTFL1 CL E G H | 54585 | 615994 | Bardet-Biedl syndrome 17 | 615994 | C3714980 | OMIM | 1 | | 110 | 6741 | 606568 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | LZTFL1 CL E G H | 54585 | 615994 | Bardet-Biedl syndrome 17 | 615994 | C3714980 | OMIM | 1 | | 110 | 6741 | 606568 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | LZTFL1 CL E G H | 54585 | 615994 | Bardet-Biedl syndrome 17 | 615994 | C3714980 | OMIM | 1 | | 110 | 6741 | 606568 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | MAG CL E G H | 4099 | 616680 | Spastic paraplegia 75, autosomal recessive | 616680 | C4225250 | OMIM | 1 | | 171 | 6783 | 159460 |
HP:0100543 | HP:0033630 | Brain fog | 1 | MAG CL E G H | 4099 | 616680 | Spastic paraplegia 75, autosomal recessive | 616680 | C4225250 | OMIM | 1 | | 171 | 6783 | 159460 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | MAG CL E G H | 4099 | 616680 | Spastic paraplegia 75, autosomal recessive | 616680 | C4225250 | OMIM | 1 | | 171 | 6783 | 159460 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | MAG CL E G H | 4099 | 616680 | Spastic paraplegia 75, autosomal recessive | 616680 | C4225250 | OMIM | 1 | | 171 | 6783 | 159460 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | MAG CL E G H | 4099 | 616680 | Spastic paraplegia 75, autosomal recessive | 616680 | C4225250 | OMIM | 1 | | 171 | 6783 | 159460 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | MAOA CL E G H | 4128 | 3057 | Jorgenson Lenz syndrome | | | ORPHA | 1 | | 259 | 6833 | 309850 |
HP:0100543 | HP:0033630 | Brain fog | 1 | MAOA CL E G H | 4128 | 3057 | Jorgenson Lenz syndrome | | | ORPHA | 1 | | 259 | 6833 | 309850 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | MAOA CL E G H | 4128 | 3057 | Jorgenson Lenz syndrome | | | ORPHA | 1 | | 259 | 6833 | 309850 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | MAOA CL E G H | 4128 | 3057 | Jorgenson Lenz syndrome | | | ORPHA | 1 | | 259 | 6833 | 309850 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | MAOA CL E G H | 4128 | 3057 | Jorgenson Lenz syndrome | | | ORPHA | 1 | | 259 | 6833 | 309850 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | MARS2 CL E G H | 92935 | 611390 | Ataxia, spastic, 3, autosomal recessive | 611390 | C1969645 | OMIM | 1 | | 130 | 25133 | 609728 |
HP:0100543 | HP:0033630 | Brain fog | 1 | MARS2 CL E G H | 92935 | 611390 | Ataxia, spastic, 3, autosomal recessive | 611390 | C1969645 | OMIM | 1 | | 130 | 25133 | 609728 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | MARS2 CL E G H | 92935 | 611390 | Ataxia, spastic, 3, autosomal recessive | 611390 | C1969645 | OMIM | 1 | | 130 | 25133 | 609728 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | MARS2 CL E G H | 92935 | 611390 | Ataxia, spastic, 3, autosomal recessive | 611390 | C1969645 | OMIM | 1 | | 130 | 25133 | 609728 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | MARS2 CL E G H | 92935 | 611390 | Ataxia, spastic, 3, autosomal recessive | 611390 | C1969645 | OMIM | 1 | | 130 | 25133 | 609728 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | METTL23 CL E G H | 124512 | 615942 | Mental retardation, autosomal recessive 44 | 615942 | C4014745 | OMIM | 1 | | 56 | 26988 | 615262 |
HP:0100543 | HP:0033630 | Brain fog | 1 | METTL23 CL E G H | 124512 | 615942 | Mental retardation, autosomal recessive 44 | 615942 | C4014745 | OMIM | 1 | | 56 | 26988 | 615262 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | METTL23 CL E G H | 124512 | 615942 | Mental retardation, autosomal recessive 44 | 615942 | C4014745 | OMIM | 1 | | 56 | 26988 | 615262 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | METTL23 CL E G H | 124512 | 615942 | Mental retardation, autosomal recessive 44 | 615942 | C4014745 | OMIM | 1 | | 56 | 26988 | 615262 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | METTL23 CL E G H | 124512 | 615942 | Mental retardation, autosomal recessive 44 | 615942 | C4014745 | OMIM | 1 | | 56 | 26988 | 615262 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | MPDU1 CL E G H | 9526 | 79323 | | | | ORPHA | 1 | | 105 | 7207 | 604041 |
HP:0100543 | HP:0033630 | Brain fog | 1 | MPDU1 CL E G H | 9526 | 79323 | | | | ORPHA | 1 | | 105 | 7207 | 604041 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | MPDU1 CL E G H | 9526 | 79323 | | | | ORPHA | 1 | | 105 | 7207 | 604041 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | MPDU1 CL E G H | 9526 | 79323 | | | | ORPHA | 1 | | 105 | 7207 | 604041 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | MPDU1 CL E G H | 9526 | 79323 | | | | ORPHA | 1 | | 105 | 7207 | 604041 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | MT-ND5 CL E G H | 4540 | 551 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0100543 | HP:0033630 | Brain fog | 1 | MT-ND5 CL E G H | 4540 | 551 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | MT-ND5 CL E G H | 4540 | 551 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | MT-ND5 CL E G H | 4540 | 551 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | MT-ND5 CL E G H | 4540 | 551 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | MT-RNR1 CL E G H | 4549 | 551 | | | | ORPHA | 1 | | 1 | 7470 | 180450 |
HP:0100543 | HP:0033630 | Brain fog | 1 | MT-RNR1 CL E G H | 4549 | 551 | | | | ORPHA | 1 | | 1 | 7470 | 180450 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | MT-RNR1 CL E G H | 4549 | 551 | | | | ORPHA | 1 | | 1 | 7470 | 180450 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | MT-RNR1 CL E G H | 4549 | 551 | | | | ORPHA | 1 | | 1 | 7470 | 180450 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | MT-RNR1 CL E G H | 4549 | 551 | | | | ORPHA | 1 | | 1 | 7470 | 180450 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | MT-TF CL E G H | 4558 | 551 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0100543 | HP:0033630 | Brain fog | 1 | MT-TF CL E G H | 4558 | 551 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | MT-TF CL E G H | 4558 | 551 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | MT-TF CL E G H | 4558 | 551 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | MT-TF CL E G H | 4558 | 551 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | MT-TH CL E G H | 4564 | 551 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0100543 | HP:0033630 | Brain fog | 1 | MT-TH CL E G H | 4564 | 551 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | MT-TH CL E G H | 4564 | 551 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | MT-TH CL E G H | 4564 | 551 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | MT-TH CL E G H | 4564 | 551 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | MT-TK CL E G H | 4566 | 551 | | | | ORPHA | 1 | | | 7489 | 590060 |
HP:0100543 | HP:0033630 | Brain fog | 1 | MT-TK CL E G H | 4566 | 551 | | | | ORPHA | 1 | | | 7489 | 590060 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | MT-TK CL E G H | 4566 | 551 | | | | ORPHA | 1 | | | 7489 | 590060 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | MT-TK CL E G H | 4566 | 551 | | | | ORPHA | 1 | | | 7489 | 590060 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | MT-TK CL E G H | 4566 | 551 | | | | ORPHA | 1 | | | 7489 | 590060 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | MT-TL1 CL E G H | 4567 | 551 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0100543 | HP:0033630 | Brain fog | 1 | MT-TL1 CL E G H | 4567 | 551 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | MT-TL1 CL E G H | 4567 | 551 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | MT-TL1 CL E G H | 4567 | 551 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | MT-TL1 CL E G H | 4567 | 551 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | MT-TP CL E G H | 4571 | 551 | | | | ORPHA | 1 | | | 7494 | 590075 |
HP:0100543 | HP:0033630 | Brain fog | 1 | MT-TP CL E G H | 4571 | 551 | | | | ORPHA | 1 | | | 7494 | 590075 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | MT-TP CL E G H | 4571 | 551 | | | | ORPHA | 1 | | | 7494 | 590075 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | MT-TP CL E G H | 4571 | 551 | | | | ORPHA | 1 | | | 7494 | 590075 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | MT-TP CL E G H | 4571 | 551 | | | | ORPHA | 1 | | | 7494 | 590075 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | MT-TQ CL E G H | 4572 | 551 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0100543 | HP:0033630 | Brain fog | 1 | MT-TQ CL E G H | 4572 | 551 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | MT-TQ CL E G H | 4572 | 551 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | MT-TQ CL E G H | 4572 | 551 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | MT-TQ CL E G H | 4572 | 551 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | MT-TS1 CL E G H | 4574 | 551 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0100543 | HP:0033630 | Brain fog | 1 | MT-TS1 CL E G H | 4574 | 551 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | MT-TS1 CL E G H | 4574 | 551 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | MT-TS1 CL E G H | 4574 | 551 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | MT-TS1 CL E G H | 4574 | 551 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | MT-TS2 CL E G H | 4575 | 551 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0100543 | HP:0033630 | Brain fog | 1 | MT-TS2 CL E G H | 4575 | 551 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | MT-TS2 CL E G H | 4575 | 551 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | MT-TS2 CL E G H | 4575 | 551 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | MT-TS2 CL E G H | 4575 | 551 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | MTFMT CL E G H | 123263 | 614947 | Combined oxidative phosphorylation deficiency 15 | 614947 | C3554182 | OMIM | 1 | | 181 | 29666 | 611766 |
HP:0100543 | HP:0033630 | Brain fog | 1 | MTFMT CL E G H | 123263 | 614947 | Combined oxidative phosphorylation deficiency 15 | 614947 | C3554182 | OMIM | 1 | | 181 | 29666 | 611766 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | MTFMT CL E G H | 123263 | 614947 | Combined oxidative phosphorylation deficiency 15 | 614947 | C3554182 | OMIM | 1 | | 181 | 29666 | 611766 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | MTFMT CL E G H | 123263 | 614947 | Combined oxidative phosphorylation deficiency 15 | 614947 | C3554182 | OMIM | 1 | | 181 | 29666 | 611766 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | MTFMT CL E G H | 123263 | 614947 | Combined oxidative phosphorylation deficiency 15 | 614947 | C3554182 | OMIM | 1 | | 181 | 29666 | 611766 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | MTO1 CL E G H | 25821 | 614702 | Combined oxidative phosphorylation deficiency 10 | 614702 | C3553529 | OMIM | 1 | | 441 | 19261 | 614667 |
HP:0100543 | HP:0033630 | Brain fog | 1 | MTO1 CL E G H | 25821 | 614702 | Combined oxidative phosphorylation deficiency 10 | 614702 | C3553529 | OMIM | 1 | | 441 | 19261 | 614667 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | MTO1 CL E G H | 25821 | 614702 | Combined oxidative phosphorylation deficiency 10 | 614702 | C3553529 | OMIM | 1 | | 441 | 19261 | 614667 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | MTO1 CL E G H | 25821 | 614702 | Combined oxidative phosphorylation deficiency 10 | 614702 | C3553529 | OMIM | 1 | | 441 | 19261 | 614667 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | MTO1 CL E G H | 25821 | 614702 | Combined oxidative phosphorylation deficiency 10 | 614702 | C3553529 | OMIM | 1 | | 441 | 19261 | 614667 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | MTOR CL E G H | 2475 | 607341 | Focal cortical dysplasia type II | 607341 | C1846385 | OMIM | 1 | | 1671 | 3942 | 601231 |
HP:0100543 | HP:0033630 | Brain fog | 1 | MTOR CL E G H | 2475 | 607341 | Focal cortical dysplasia type II | 607341 | C1846385 | OMIM | 1 | | 1671 | 3942 | 601231 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | MTOR CL E G H | 2475 | 607341 | Focal cortical dysplasia type II | 607341 | C1846385 | OMIM | 1 | | 1671 | 3942 | 601231 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | MTOR CL E G H | 2475 | 607341 | Focal cortical dysplasia type II | 607341 | C1846385 | OMIM | 1 | | 1671 | 3942 | 601231 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | MTOR CL E G H | 2475 | 607341 | Focal cortical dysplasia type II | 607341 | C1846385 | OMIM | 1 | | 1671 | 3942 | 601231 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | NAGA CL E G H | 4668 | 609242 | Kanzaki disease | 609242 | C1836522 | OMIM | 1 | | 183 | 7631 | 104170 |
HP:0100543 | HP:0033630 | Brain fog | 1 | NAGA CL E G H | 4668 | 609242 | Kanzaki disease | 609242 | C1836522 | OMIM | 1 | | 183 | 7631 | 104170 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | NAGA CL E G H | 4668 | 609242 | Kanzaki disease | 609242 | C1836522 | OMIM | 1 | | 183 | 7631 | 104170 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | NAGA CL E G H | 4668 | 609242 | Kanzaki disease | 609242 | C1836522 | OMIM | 1 | | 183 | 7631 | 104170 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | NAGA CL E G H | 4668 | 609242 | Kanzaki disease | 609242 | C1836522 | OMIM | 1 | | 183 | 7631 | 104170 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | NAGS CL E G H | 162417 | 237310 | Hyperammonemia, type III | 237310 | C0268543 | OMIM | 1 | | 345 | 17996 | 608300 |
HP:0100543 | HP:0033630 | Brain fog | 1 | NAGS CL E G H | 162417 | 237310 | Hyperammonemia, type III | 237310 | C0268543 | OMIM | 1 | | 345 | 17996 | 608300 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | NAGS CL E G H | 162417 | 237310 | Hyperammonemia, type III | 237310 | C0268543 | OMIM | 1 | | 345 | 17996 | 608300 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | NAGS CL E G H | 162417 | 237310 | Hyperammonemia, type III | 237310 | C0268543 | OMIM | 1 | | 345 | 17996 | 608300 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | NAGS CL E G H | 162417 | 237310 | Hyperammonemia, type III | 237310 | C0268543 | OMIM | 1 | | 345 | 17996 | 608300 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | NFIA CL E G H | 4774 | 613735 | Brain malformations and urinary tract defects | 613735 | C3151036 | OMIM | 1 | | 188 | 7784 | 600727 |
HP:0100543 | HP:0033630 | Brain fog | 1 | NFIA CL E G H | 4774 | 613735 | Brain malformations and urinary tract defects | 613735 | C3151036 | OMIM | 1 | | 188 | 7784 | 600727 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | NFIA CL E G H | 4774 | 613735 | Brain malformations and urinary tract defects | 613735 | C3151036 | OMIM | 1 | | 188 | 7784 | 600727 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | NFIA CL E G H | 4774 | 613735 | Brain malformations and urinary tract defects | 613735 | C3151036 | OMIM | 1 | | 188 | 7784 | 600727 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | NFIA CL E G H | 4774 | 613735 | Brain malformations and urinary tract defects | 613735 | C3151036 | OMIM | 1 | | 188 | 7784 | 600727 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | NKX6-2 CL E G H | 84504 | 617560 | SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY | 617560 | C4479653 | OMIM | 1 | | 172 | 19321 | 605955 |
HP:0100543 | HP:0033630 | Brain fog | 1 | NKX6-2 CL E G H | 84504 | 617560 | SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY | 617560 | C4479653 | OMIM | 1 | | 172 | 19321 | 605955 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | NKX6-2 CL E G H | 84504 | 617560 | SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY | 617560 | C4479653 | OMIM | 1 | | 172 | 19321 | 605955 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | NKX6-2 CL E G H | 84504 | 617560 | SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY | 617560 | C4479653 | OMIM | 1 | | 172 | 19321 | 605955 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | NKX6-2 CL E G H | 84504 | 617560 | SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY | 617560 | C4479653 | OMIM | 1 | | 172 | 19321 | 605955 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | NPHP1 CL E G H | 4867 | 609583 | Joubert syndrome 4 | 609583 | C1846790 | OMIM | 1 | | 653 | 7905 | 607100 |
HP:0100543 | HP:0033630 | Brain fog | 1 | NPHP1 CL E G H | 4867 | 609583 | Joubert syndrome 4 | 609583 | C1846790 | OMIM | 1 | | 653 | 7905 | 607100 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | NPHP1 CL E G H | 4867 | 609583 | Joubert syndrome 4 | 609583 | C1846790 | OMIM | 1 | | 653 | 7905 | 607100 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | NPHP1 CL E G H | 4867 | 609583 | Joubert syndrome 4 | 609583 | C1846790 | OMIM | 1 | | 653 | 7905 | 607100 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | NPHP1 CL E G H | 4867 | 609583 | Joubert syndrome 4 | 609583 | C1846790 | OMIM | 1 | | 653 | 7905 | 607100 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | NUP107 CL E G H | 57122 | 2065 | | | | ORPHA | 1 | | 149 | 29914 | 607617 |
HP:0100543 | HP:0033630 | Brain fog | 1 | NUP107 CL E G H | 57122 | 2065 | | | | ORPHA | 1 | | 149 | 29914 | 607617 |
HP:0100543 | HP:0002354 | Memory impairment | 1 | NUP107 CL E G H | 57122 | 2065 | | | | ORPHA | 1 | | 149 | 29914 | 607617 |
HP:0100543 | HP:0001268 | Mental deterioration | 1 | NUP107 CL E G H | 57122 | 2065 | | | | ORPHA | 1 | | 149 | 29914 | 607617 |
HP:0100543 | HP:0033844 | Tachyphrenia | 1 | NUP107 CL E G H | 57122 | 2065 | | | | ORPHA | 1 | | 149 | 29914 | 607617 |
HP:0100543 | HP:0031843 | Bradyphrenia | 1 | OCRL CL E G H | 4952 | 300555 | Dent disease 2 | 300555 | C1845167 | OMIM | 1 | | 508 | 8108 | 300535 |
HP:0100543 | HP:0033630 | |