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:0001288 | HP:0001288 | Gait disturbance | 0 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 388 | 119 | 609751 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 435 | 119 | 609751 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 293 | 236 | 600293 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 365 | 236 | 600293 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 346 | 9722 | 138250 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 392 | 9722 | 138250 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ALDH18A1 CL E G H | 5832 | 616586 | Spastic paraplegia 9b, autosomal recessive | 616586 | C4225272 | OMIM | 1 | | 346 | 9722 | 138250 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ALDH18A1 CL E G H | 5832 | 616586 | Spastic paraplegia 9b, autosomal recessive | 616586 | C4225272 | OMIM | 1 | | 392 | 9722 | 138250 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ALS2 CL E G H | 57679 | 300605 | Juvenile amyotrophic lateral sclerosis | | CN239582 | ORPHA | 1 | | 524 | 443 | 606352 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ALS2 CL E G H | 57679 | 300605 | Juvenile amyotrophic lateral sclerosis | | CN239582 | ORPHA | 1 | | 644 | 443 | 606352 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | AP1S2 CL E G H | 8905 | 85329 | | | | ORPHA | 1 | | 216 | 560 | 300629 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | AP1S2 CL E G H | 8905 | 85329 | | | | ORPHA | 1 | | 219 | 560 | 300629 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | AP1S2 CL E G H | 8905 | 85335 | | | | ORPHA | 1 | | 216 | 560 | 300629 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | AP1S2 CL E G H | 8905 | 85335 | | | | ORPHA | 1 | | 219 | 560 | 300629 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | APOPT1 CL E G H | 84334 | 436271 | | | | ORPHA | 1 | | 125 | 20492 | 616003 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | APOPT1 CL E G H | 84334 | 436271 | | | | ORPHA | 1 | | 129 | 20492 | 616003 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | APP CL E G H | 351 | 324708 | | | | ORPHA | 1 | | 320 | 620 | 104760 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | APP CL E G H | 351 | 324708 | | | | ORPHA | 1 | | 364 | 620 | 104760 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | APTX CL E G H | 54840 | 1168 | | | | ORPHA | 1 | | 236 | 15984 | 606350 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | APTX CL E G H | 54840 | 1168 | | | | ORPHA | 1 | | 258 | 15984 | 606350 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | AR CL E G H | 367 | 481 | | | | ORPHA | 1 | | 479 | 644 | 313700 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | AR CL E G H | 367 | 481 | | | | ORPHA | 1 | | 525 | 644 | 313700 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ARL13B CL E G H | 200894 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 184 | 25419 | 608922 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ARL13B CL E G H | 200894 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 222 | 25419 | 608922 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ARL3 CL E G H | 403 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 64 | 694 | 604695 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ARL3 CL E G H | 403 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 90 | 694 | 604695 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ARMC9 CL E G H | 80210 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 251 | 20730 | 617612 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ARMC9 CL E G H | 80210 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 380 | 20730 | 617612 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ARSA CL E G H | 410 | 250100 | Metachromatic leukodystrophy | 250100 | C0023522 | OMIM | 1 | | 732 | 713 | 607574 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ARSA CL E G H | 410 | 250100 | Metachromatic leukodystrophy | 250100 | C0023522 | OMIM | 1 | | 841 | 713 | 607574 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ASAH1 CL E G H | 427 | 2590 | | | | ORPHA | 1 | | 420 | 735 | 613468 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ASAH1 CL E G H | 427 | 2590 | | | | ORPHA | 1 | | 593 | 735 | 613468 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ATAD1 CL E G H | 84896 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 27 | 25903 | 614452 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ATAD1 CL E G H | 84896 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 76 | 25903 | 614452 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ATM CL E G H | 472 | 100 | | | | ORPHA | 1 | | 10320 | 795 | 607585 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ATM CL E G H | 472 | 100 | | | | ORPHA | 1 | | 11382 | 795 | 607585 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 487 | 30213 | 610513 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 609 | 30213 | 610513 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ATP13A2 CL E G H | 23400 | 617225 | Spastic paraplegia 78, autosomal recessive | 617225 | C4310662 | OMIM | 1 | | 487 | 30213 | 610513 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ATP13A2 CL E G H | 23400 | 617225 | Spastic paraplegia 78, autosomal recessive | 617225 | C4310662 | OMIM | 1 | | 609 | 30213 | 610513 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ATP6AP2 CL E G H | 10159 | 300423 | Mental retardation, X-linked, syndromic, Hedera type | 300423 | C1845543 | OMIM | 1 | | 263 | 18305 | 300556 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ATP6AP2 CL E G H | 10159 | 300423 | Mental retardation, X-linked, syndromic, Hedera type | 300423 | C1845543 | OMIM | 1 | | 286 | 18305 | 300556 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ATP8A2 CL E G H | 51761 | 1766 | | | | ORPHA | 1 | | 126 | 13533 | 605870 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ATP8A2 CL E G H | 51761 | 1766 | | | | ORPHA | 1 | | 193 | 13533 | 605870 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | B3GALNT2 CL E G H | 148789 | 588 | | | | ORPHA | 1 | | 343 | 28596 | 610194 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | B3GALNT2 CL E G H | 148789 | 588 | | | | ORPHA | 1 | | 411 | 28596 | 610194 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | B4GALNT1 CL E G H | 2583 | 101006 | | | | ORPHA | 1 | | 148 | 4117 | 601873 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | B4GALNT1 CL E G H | 2583 | 101006 | | | | ORPHA | 1 | | 169 | 4117 | 601873 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | B9D1 CL E G H | 27077 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 196 | 24123 | 614144 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | B9D1 CL E G H | 27077 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 230 | 24123 | 614144 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 240 | 25443 | 614297 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 248 | 25443 | 614297 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | C19orf12 CL E G H | 83636 | 615043 | Spastic paraplegia 43, autosomal recessive | 615043 | C2680446 | OMIM | 1 | | 240 | 25443 | 614297 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | C19orf12 CL E G H | 83636 | 615043 | Spastic paraplegia 43, autosomal recessive | 615043 | C2680446 | OMIM | 1 | | 248 | 25443 | 614297 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | C4A CL E G H | 720 | 117 | | | | ORPHA | 1 | | 33 | 1323 | 120810 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | CA8 CL E G H | 767 | 1766 | | | | ORPHA | 1 | | 77 | 1382 | 114815 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | CA8 CL E G H | 767 | 1766 | | | | ORPHA | 1 | | 83 | 1382 | 114815 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | CACNA1B CL E G H | 774 | 614860 | Dystonia 23 | 614860 | C3538999 | OMIM | 1 | | 351 | 1389 | 601012 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | CACNA1B CL E G H | 774 | 614860 | Dystonia 23 | 614860 | C3538999 | OMIM | 1 | | 392 | 1389 | 601012 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | CASK CL E G H | 8573 | 163937 | | | | ORPHA | 1 | | 583 | 1497 | 300172 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | CASK CL E G H | 8573 | 163937 | | | | ORPHA | 1 | | 633 | 1497 | 300172 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | CC2D2A CL E G H | 57545 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 881 | 29253 | 612013 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | CC2D2A CL E G H | 57545 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 1064 | 29253 | 612013 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | CCN6 CL E G H | 8838 | 1159 | | | | ORPHA | 1 | | 86 | 12771 | 603400 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | CCN6 CL E G H | 8838 | 1159 | | | | ORPHA | 1 | | 87 | 12771 | 603400 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | CCR1 CL E G H | 1230 | 117 | | | | ORPHA | 1 | | 19 | 1602 | 601159 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | CCT5 CL E G H | 22948 | 139578 | | | | ORPHA | 1 | | 293 | 1618 | 610150 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | CCT5 CL E G H | 22948 | 139578 | | | | ORPHA | 1 | | 306 | 1618 | 610150 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | CEP104 CL E G H | 9731 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 354 | 24866 | 616690 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | CEP104 CL E G H | 9731 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 384 | 24866 | 616690 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | CEP120 CL E G H | 153241 | 220493 | | | | ORPHA | 1 | | 210 | 26690 | 613446 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | CEP120 CL E G H | 153241 | 220493 | | | | ORPHA | 1 | | 250 | 26690 | 613446 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | CEP120 CL E G H | 153241 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 210 | 26690 | 613446 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | CEP120 CL E G H | 153241 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 250 | 26690 | 613446 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | CEP41 CL E G H | 95681 | 220493 | | | | ORPHA | 1 | | 297 | 12370 | 610523 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | CEP41 CL E G H | 95681 | 220493 | | | | ORPHA | 1 | | 347 | 12370 | 610523 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | CEP41 CL E G H | 95681 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 297 | 12370 | 610523 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | CEP41 CL E G H | 95681 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 347 | 12370 | 610523 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | CFL2 CL E G H | 1073 | 610687 | Nemaline myopathy 7 | 610687 | C1853154 | OMIM | 1 | | 128 | 1875 | 601443 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | CFL2 CL E G H | 1073 | 610687 | Nemaline myopathy 7 | 610687 | C1853154 | OMIM | 1 | | 139 | 1875 | 601443 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | CHCHD2 CL E G H | 51142 | 616710 | Parkinson disease 22, autosomal dominant | 616710 | C4225238 | OMIM | 1 | | 60 | 21645 | 616244 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | CHCHD2 CL E G H | 51142 | 616710 | Parkinson disease 22, autosomal dominant | 616710 | C4225238 | OMIM | 1 | | 67 | 21645 | 616244 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | CHMP2B CL E G H | 25978 | 600795 | Frontotemporal Dementia, Chromosome 3-Linked | 600795 | C1833296 | OMIM | 1 | | 110 | 24537 | 609512 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | CHMP2B CL E G H | 25978 | 600795 | Frontotemporal Dementia, Chromosome 3-Linked | 600795 | C1833296 | OMIM | 1 | | 130 | 24537 | 609512 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | COL2A1 CL E G H | 1280 | 93346 | | | | ORPHA | 1 | | 1213 | 2200 | 120140 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | COL2A1 CL E G H | 1280 | 93346 | | | | ORPHA | 1 | | 1540 | 2200 | 120140 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | COL2A1 CL E G H | 1280 | 156550 | Kniest dysplasia | 156550 | C0265279 | OMIM | 1 | | 1213 | 2200 | 120140 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | COL2A1 CL E G H | 1280 | 156550 | Kniest dysplasia | 156550 | C0265279 | OMIM | 1 | | 1540 | 2200 | 120140 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | COL9A1 CL E G H | 1297 | 166002 | | | | ORPHA | 1 | | 594 | 2217 | 120210 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | COL9A1 CL E G H | 1297 | 166002 | | | | ORPHA | 1 | | 744 | 2217 | 120210 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | COL9A2 CL E G H | 1298 | 166002 | | | | ORPHA | 1 | | 336 | 2218 | 120260 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | COL9A2 CL E G H | 1298 | 166002 | | | | ORPHA | 1 | | 479 | 2218 | 120260 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | COL9A3 CL E G H | 1299 | 166002 | | | | ORPHA | 1 | | 464 | 2219 | 120270 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | COL9A3 CL E G H | 1299 | 166002 | | | | ORPHA | 1 | | 703 | 2219 | 120270 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | COMP CL E G H | 1311 | 750 | | | | ORPHA | 1 | | 287 | 2227 | 600310 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | COMP CL E G H | 1311 | 750 | | | | ORPHA | 1 | | 375 | 2227 | 600310 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | COMP CL E G H | 1311 | 93308 | | | | ORPHA | 1 | | 287 | 2227 | 600310 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | COMP CL E G H | 1311 | 93308 | | | | ORPHA | 1 | | 375 | 2227 | 600310 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | CPLANE1 CL E G H | 65250 | 2754 | | | | ORPHA | 1 | | 824 | 25801 | 614571 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | CPLANE1 CL E G H | 65250 | 2754 | | | | ORPHA | 1 | | 1239 | 25801 | 614571 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | CPLANE1 CL E G H | 65250 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 824 | 25801 | 614571 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | CPLANE1 CL E G H | 65250 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 1239 | 25801 | 614571 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | CSPP1 CL E G H | 79848 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 476 | 26193 | 611654 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | CSPP1 CL E G H | 79848 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 687 | 26193 | 611654 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | CUX2 CL E G H | 23316 | 618141 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 | 618141 | | OMIM | 1 | | 68 | 19347 | 610648 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | CUX2 CL E G H | 23316 | 618141 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 | 618141 | | OMIM | 1 | | 75 | 19347 | 610648 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | DDRGK1 CL E G H | 65992 | 93352 | | | | ORPHA | 1 | | 43 | 16110 | 616177 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | DDRGK1 CL E G H | 65992 | 93352 | | | | ORPHA | 1 | | 65 | 16110 | 616177 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | DEAF1 CL E G H | 10522 | 819 | | | | ORPHA | 1 | | 179 | 14677 | 602635 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | DEAF1 CL E G H | 10522 | 819 | | | | ORPHA | 1 | | 311 | 14677 | 602635 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | DEAF1 CL E G H | 10522 | 615828 | Mental retardation, autosomal dominant 24 | 615828 | C4014414 | OMIM | 1 | | 179 | 14677 | 602635 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | DEAF1 CL E G H | 10522 | 615828 | Mental retardation, autosomal dominant 24 | 615828 | C4014414 | OMIM | 1 | | 311 | 14677 | 602635 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | DKK1 CL E G H | 22943 | 85193 | | | | ORPHA | 1 | | 24 | 2891 | 605189 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | DNA2 CL E G H | 1763 | 615156 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 | 615156 | C3554599 | OMIM | 1 | | 223 | 2939 | 601810 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | DNA2 CL E G H | 1763 | 615156 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 | 615156 | C3554599 | OMIM | 1 | | 290 | 2939 | 601810 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | DNAJB2 CL E G H | 3300 | 614881 | Spinal muscular atrophy, distal, autosomal recessive, 5 | 614881 | C3553989 | OMIM | 1 | | 190 | 5228 | 604139 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | DNAJB2 CL E G H | 3300 | 614881 | Spinal muscular atrophy, distal, autosomal recessive, 5 | 614881 | C3553989 | OMIM | 1 | | 217 | 5228 | 604139 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | DYNC1H1 CL E G H | 1778 | 614563 | Mental retardation, autosomal dominant 13 | 614563 | C3281202 | OMIM | 1 | | 2023 | 2961 | 600112 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | DYNC1H1 CL E G H | 1778 | 614563 | Mental retardation, autosomal dominant 13 | 614563 | C3281202 | OMIM | 1 | | 2385 | 2961 | 600112 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | EED CL E G H | 8726 | 617561 | Cohen-Gibson syndrome | 617561 | C4479654 | OMIM | 1 | | 80 | 3188 | 605984 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | EED CL E G H | 8726 | 617561 | Cohen-Gibson syndrome | 617561 | C4479654 | OMIM | 1 | | 86 | 3188 | 605984 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | EIF2AK3 CL E G H | 9451 | 1667 | Dandy-Walker malformation with facial hemangioma | | | ORPHA | 1 | | 178 | 3255 | 604032 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | EIF2AK3 CL E G H | 9451 | 1667 | Dandy-Walker malformation with facial hemangioma | | | ORPHA | 1 | | 296 | 3255 | 604032 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | EIF2B1 CL E G H | 1967 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 103 | 3257 | 606686 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | EIF2B1 CL E G H | 1967 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 122 | 3257 | 606686 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | EIF2B2 CL E G H | 8892 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 104 | 3258 | 606454 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | EIF2B2 CL E G H | 8892 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 120 | 3258 | 606454 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | EIF2B3 CL E G H | 8891 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 97 | 3259 | 606273 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | EIF2B3 CL E G H | 8891 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 125 | 3259 | 606273 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | EIF2B4 CL E G H | 8890 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 103 | 3260 | 606687 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | EIF2B4 CL E G H | 8890 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 129 | 3260 | 606687 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | EIF2B5 CL E G H | 8893 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 283 | 3261 | 603945 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | EIF2B5 CL E G H | 8893 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 335 | 3261 | 603945 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ELOVL4 CL E G H | 6785 | 1955 | | | | ORPHA | 1 | | 178 | 14415 | 605512 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ELOVL4 CL E G H | 6785 | 1955 | | | | ORPHA | 1 | | 213 | 14415 | 605512 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ELP1 CL E G H | 8518 | 1764 | | | | ORPHA | 1 | | 1054 | 5959 | 603722 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ELP1 CL E G H | 8518 | 1764 | | | | ORPHA | 1 | | 1181 | 5959 | 603722 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ENTPD1 CL E G H | 953 | 401810 | | | | ORPHA | 1 | | 87 | 3363 | 601752 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ENTPD1 CL E G H | 953 | 401810 | | | | ORPHA | 1 | | 115 | 3363 | 601752 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ENTPD1 CL E G H | 953 | 615683 | Spastic paraplegia 64, autosomal recessive | 615683 | C3810289 | OMIM | 1 | | 87 | 3363 | 601752 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ENTPD1 CL E G H | 953 | 615683 | Spastic paraplegia 64, autosomal recessive | 615683 | C3810289 | OMIM | 1 | | 115 | 3363 | 601752 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | EPM2A CL E G H | 7957 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 287 | 3413 | 607566 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | EPM2A CL E G H | 7957 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 336 | 3413 | 607566 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ERAP1 CL E G H | 51752 | 117 | | | | ORPHA | 1 | | 90 | 18173 | 606832 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ERCC8 CL E G H | 1161 | 216400 | Cockayne syndrome type A | 216400 | C0751039 | OMIM | 1 | | 310 | 3439 | 609412 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ERCC8 CL E G H | 1161 | 216400 | Cockayne syndrome type A | 216400 | C0751039 | OMIM | 1 | | 343 | 3439 | 609412 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ERLIN2 CL E G H | 11160 | 611225 | Spastic paraplegia 18 | 611225 | C2749936 | OMIM | 1 | | 138 | 1356 | 611605 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ERLIN2 CL E G H | 11160 | 611225 | Spastic paraplegia 18 | 611225 | C2749936 | OMIM | 1 | | 147 | 1356 | 611605 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | FAS CL E G H | 355 | 117 | | | | ORPHA | 1 | | 227 | 11920 | 134637 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | FAS CL E G H | 355 | 117 | | | | ORPHA | 1 | | 275 | 11920 | 134637 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | FIG4 CL E G H | 9896 | 611228 | Charcot-Marie-Tooth disease, type 4J | 611228 | C1970011 | OMIM | 1 | | 558 | 16873 | 609390 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | FIG4 CL E G H | 9896 | 611228 | Charcot-Marie-Tooth disease, type 4J | 611228 | C1970011 | OMIM | 1 | | 649 | 16873 | 609390 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | FKBP10 CL E G H | 60681 | 1149 | | | | ORPHA | 1 | | 192 | 18169 | 607063 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | FKBP10 CL E G H | 60681 | 1149 | | | | ORPHA | 1 | | 241 | 18169 | 607063 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | FKRP CL E G H | 79147 | 588 | | | | ORPHA | 1 | | 572 | 17997 | 606596 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | FKRP CL E G H | 79147 | 588 | | | | ORPHA | 1 | | 671 | 17997 | 606596 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | FKTN CL E G H | 2218 | 588 | | | | ORPHA | 1 | | 599 | 3622 | 607440 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | FKTN CL E G H | 2218 | 588 | | | | ORPHA | 1 | | 679 | 3622 | 607440 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | FKTN CL E G H | 2218 | 272 | VACTERL hydrocephaly | | | ORPHA | 1 | | 599 | 3622 | 607440 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | FKTN CL E G H | 2218 | 272 | VACTERL hydrocephaly | | | ORPHA | 1 | | 679 | 3622 | 607440 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | FLII CL E G H | 2314 | 819 | | | | ORPHA | 1 | | 155 | 3750 | 600362 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | FLII CL E G H | 2314 | 819 | | | | ORPHA | 1 | | 158 | 3750 | 600362 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | FLNA CL E G H | 2316 | 309350 | Melnick-Needles syndrome | 309350 | C0025237 | OMIM | 1 | | 1893 | 3754 | 300017 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | FLNA CL E G H | 2316 | 309350 | Melnick-Needles syndrome | 309350 | C0025237 | OMIM | 1 | | 2130 | 3754 | 300017 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | FRRS1L CL E G H | 23732 | 616981 | Epileptic encephalopathy, early infantile, 37 | 616981 | C4310770 | OMIM | 1 | | 257 | 1362 | 604574 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | FRRS1L CL E G H | 23732 | 616981 | Epileptic encephalopathy, early infantile, 37 | 616981 | C4310770 | OMIM | 1 | | 306 | 1362 | 604574 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | FTL CL E G H | 2512 | 157846 | | | | ORPHA | 1 | | 109 | 3999 | 134790 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | FTL CL E G H | 2512 | 157846 | | | | ORPHA | 1 | | 138 | 3999 | 134790 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | FUS CL E G H | 2521 | 608030 | Amyotrophic lateral sclerosis type 6 | 608030 | C1842675 | OMIM | 1 | | 323 | 4010 | 137070 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | FUS CL E G H | 2521 | 608030 | Amyotrophic lateral sclerosis type 6 | 608030 | C1842675 | OMIM | 1 | | 339 | 4010 | 137070 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | FUS CL E G H | 2521 | 300605 | Juvenile amyotrophic lateral sclerosis | | CN239582 | ORPHA | 1 | | 323 | 4010 | 137070 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | FUS CL E G H | 2521 | 300605 | Juvenile amyotrophic lateral sclerosis | | CN239582 | ORPHA | 1 | | 339 | 4010 | 137070 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | GABBR2 CL E G H | 9568 | 617903 | NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS | 617903 | CN870852 | OMIM | 1 | | 504 | 4507 | 607340 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | GABBR2 CL E G H | 9568 | 617903 | NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS | 617903 | CN870852 | OMIM | 1 | | 557 | 4507 | 607340 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | GABRD CL E G H | 2563 | 1606 | | | | ORPHA | 1 | | 340 | 4084 | 137163 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | GABRD CL E G H | 2563 | 1606 | | | | ORPHA | 1 | | 361 | 4084 | 137163 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | GBA CL E G H | 2629 | 77261 | | | | ORPHA | 1 | | 261 | 4177 | 606463 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | GBA CL E G H | 2629 | 77261 | | | | ORPHA | 1 | | 269 | 4177 | 606463 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | GBE1 CL E G H | 2632 | 206583 | | | | ORPHA | 1 | | 422 | 4180 | 607839 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | GBE1 CL E G H | 2632 | 206583 | | | | ORPHA | 1 | | 505 | 4180 | 607839 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | GBE1 CL E G H | 2632 | 263570 | Polyglucosan body disease, adult | 263570 | C1849722 | OMIM | 1 | | 422 | 4180 | 607839 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | GBE1 CL E G H | 2632 | 263570 | Polyglucosan body disease, adult | 263570 | C1849722 | OMIM | 1 | | 505 | 4180 | 607839 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | GDAP1 CL E G H | 54332 | 99944 | | | | ORPHA | 1 | | 423 | 15968 | 606598 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | GDAP1 CL E G H | 54332 | 99944 | | | | ORPHA | 1 | | 444 | 15968 | 606598 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 1 | | 169 | 4274 | 121014 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 1 | | 191 | 4274 | 121014 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | GLB1 CL E G H | 2720 | 230600 | GM1 gangliosidosis type 2 | 230600 | C0268272 | OMIM | 1 | | 507 | 4298 | 611458 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | GLB1 CL E G H | 2720 | 230600 | GM1 gangliosidosis type 2 | 230600 | C0268272 | OMIM | 1 | | 596 | 4298 | 611458 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | GLRA1 CL E G H | 2741 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 299 | 4326 | 138491 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | GLRA1 CL E G H | 2741 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 342 | 4326 | 138491 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | GLRB CL E G H | 2743 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 157 | 4329 | 138492 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | GLRB CL E G H | 2743 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 239 | 4329 | 138492 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | GLRX5 CL E G H | 51218 | 616859 | Spasticity, childhood-onset, with hyperglycinemia | 616859 | C4225178 | OMIM | 1 | | 60 | 20134 | 609588 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | GLRX5 CL E G H | 51218 | 616859 | Spasticity, childhood-onset, with hyperglycinemia | 616859 | C4225178 | OMIM | 1 | | 68 | 20134 | 609588 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | GMPPB CL E G H | 29925 | 588 | | | | ORPHA | 1 | | 203 | 22932 | 615320 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | GMPPB CL E G H | 29925 | 588 | | | | ORPHA | 1 | | 234 | 22932 | 615320 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | GNE CL E G H | 10020 | 605820 | Nonaka myopathy | 605820 | C1853926 | OMIM | 1 | | 604 | 23657 | 603824 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | GNE CL E G H | 10020 | 605820 | Nonaka myopathy | 605820 | C1853926 | OMIM | 1 | | 682 | 23657 | 603824 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | GPHN CL E G H | 10243 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 276 | 15465 | 603930 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | GPHN CL E G H | 10243 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 374 | 15465 | 603930 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | HLA-B CL E G H | 3106 | 117 | | | | ORPHA | 1 | | 18 | 4932 | 142830 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | HNRNPH2 CL E G H | 3188 | 300986 | Mental retardation, X-linked, syndromic, Bain type | 300986 | C4310814 | OMIM | 1 | | 186 | 5042 | 300610 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | HNRNPH2 CL E G H | 3188 | 300986 | Mental retardation, X-linked, syndromic, Bain type | 300986 | C4310814 | OMIM | 1 | | 191 | 5042 | 300610 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1327 | 5273 | 142461 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1600 | 5273 | 142461 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | HTRA1 CL E G H | 5654 | 616779 | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | 616779 | C4225211 | OMIM | 1 | | 164 | 9476 | 602194 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | HTRA1 CL E G H | 5654 | 616779 | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | 616779 | C4225211 | OMIM | 1 | | 196 | 9476 | 602194 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | HTRA1 CL E G H | 5654 | 600142 | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy | 600142 | C1838577 | OMIM | 1 | | 164 | 9476 | 602194 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | HTRA1 CL E G H | 5654 | 600142 | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy | 600142 | C1838577 | OMIM | 1 | | 196 | 9476 | 602194 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | HYLS1 CL E G H | 219844 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 177 | 26558 | 610693 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | HYLS1 CL E G H | 219844 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 199 | 26558 | 610693 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | IKBKG CL E G H | 8517 | 464 | Achromatopsia incomplete X-linked | | CN036572 | ORPHA | 1 | | 326 | 5961 | 300248 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | IKBKG CL E G H | 8517 | 464 | Achromatopsia incomplete X-linked | | CN036572 | ORPHA | 1 | | 337 | 5961 | 300248 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | IL10 CL E G H | 3586 | 117 | | | | ORPHA | 1 | | 62 | 5962 | 124092 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | IL10 CL E G H | 3586 | 117 | | | | ORPHA | 1 | | 81 | 5962 | 124092 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | IL12A CL E G H | 3592 | 117 | | | | ORPHA | 1 | | 28 | 5969 | 161560 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | IL12A-AS1 CL E G H | 101928376 | 117 | | | | ORPHA | 1 | | 13 | 49094 | 0 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | IL23R CL E G H | 149233 | 117 | | | | ORPHA | 1 | | 57 | 19100 | 607562 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | IL23R CL E G H | 149233 | 117 | | | | ORPHA | 1 | | 106 | 19100 | 607562 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | INPP5E CL E G H | 56623 | 220493 | | | | ORPHA | 1 | | 466 | 21474 | 613037 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | INPP5E CL E G H | 56623 | 220493 | | | | ORPHA | 1 | | 559 | 21474 | 613037 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | INPP5E CL E G H | 56623 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 466 | 21474 | 613037 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | INPP5E CL E G H | 56623 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 559 | 21474 | 613037 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | INPP5E CL E G H | 56623 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 466 | 21474 | 613037 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | INPP5E CL E G H | 56623 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 559 | 21474 | 613037 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | IQSEC2 CL E G H | 23096 | 819 | | | | ORPHA | 1 | | 753 | 29059 | 300522 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | IQSEC2 CL E G H | 23096 | 819 | | | | ORPHA | 1 | | 832 | 29059 | 300522 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | KBTBD13 CL E G H | 390594 | 609273 | Nemaline myopathy 6 | 609273 | C1836472 | OMIM | 1 | | 316 | 37227 | 613727 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | KBTBD13 CL E G H | 390594 | 609273 | Nemaline myopathy 6 | 609273 | C1836472 | OMIM | 1 | | 388 | 37227 | 613727 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | KCNAB2 CL E G H | 8514 | 1606 | | | | ORPHA | 1 | | 88 | 6229 | 601142 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | KCNAB2 CL E G H | 8514 | 1606 | | | | ORPHA | 1 | | 91 | 6229 | 601142 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | KIAA0556 CL E G H | 23247 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | | 29068 | 616650 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | KIAA0586 CL E G H | 9786 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 338 | 19960 | 610178 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | KIAA0586 CL E G H | 9786 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 662 | 19960 | 610178 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | KIAA0753 CL E G H | 9851 | 2754 | | | | ORPHA | 1 | | 122 | 29110 | 617112 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | KIAA0753 CL E G H | 9851 | 2754 | | | | ORPHA | 1 | | 184 | 29110 | 617112 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | KIF7 CL E G H | 374654 | 2754 | | | | ORPHA | 1 | | 540 | 30497 | 611254 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | KIF7 CL E G H | 374654 | 2754 | | | | ORPHA | 1 | | 813 | 30497 | 611254 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | KLRC4 CL E G H | 8302 | 117 | | | | ORPHA | 1 | | 37 | 6377 | 602893 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | L1CAM CL E G H | 3897 | 2466 | | | | ORPHA | 1 | | 645 | 6470 | 308840 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | L1CAM CL E G H | 3897 | 2466 | | | | ORPHA | 1 | | 695 | 6470 | 308840 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | LAMA2 CL E G H | 3908 | 618138 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 | 618138 | | OMIM | 1 | | 2327 | 6482 | 156225 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | LAMA2 CL E G H | 3908 | 618138 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 | 618138 | | OMIM | 1 | | 2739 | 6482 | 156225 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | LAMP2 CL E G H | 3920 | 34587 | | | | ORPHA | 1 | | 672 | 6501 | 309060 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | LAMP2 CL E G H | 3920 | 34587 | | | | ORPHA | 1 | | 726 | 6501 | 309060 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | LARGE1 CL E G H | 9215 | 588 | | | | ORPHA | 1 | | 516 | 6511 | 603590 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | LARGE1 CL E G H | 9215 | 588 | | | | ORPHA | 1 | | 597 | 6511 | 603590 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | LMNA CL E G H | 4000 | 157973 | | | | ORPHA | 1 | | 1347 | 6636 | 150330 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | LMNA CL E G H | 4000 | 157973 | | | | ORPHA | 1 | | 1486 | 6636 | 150330 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | LMNA CL E G H | 4000 | 616516 | Emery-Dreifuss muscular dystrophy 3, autosomal recessive | 616516 | C2750035 | OMIM | 1 | | 1347 | 6636 | 150330 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | LMNA CL E G H | 4000 | 616516 | Emery-Dreifuss muscular dystrophy 3, autosomal recessive | 616516 | C2750035 | OMIM | 1 | | 1486 | 6636 | 150330 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | LMNB1 CL E G H | 4001 | 99027 | | | | ORPHA | 1 | | 129 | 6637 | 150340 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | LMNB1 CL E G H | 4001 | 99027 | | | | ORPHA | 1 | | 151 | 6637 | 150340 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | LYRM7 CL E G H | 90624 | 615838 | Mitochondrial complex III deficiency, nuclear type 8 | 615838 | C4014440 | OMIM | 1 | | 63 | 28072 | 615831 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | LYRM7 CL E G H | 90624 | 615838 | Mitochondrial complex III deficiency, nuclear type 8 | 615838 | C4014440 | OMIM | 1 | | 66 | 28072 | 615831 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | LYST CL E G H | 1130 | 214500 | Chédiak-Higashi syndrome | 214500 | C0007965 | OMIM | 1 | | 1176 | 1968 | 606897 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | LYST CL E G H | 1130 | 214500 | Chédiak-Higashi syndrome | 214500 | C0007965 | OMIM | 1 | | 1518 | 1968 | 606897 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MAFB CL E G H | 9935 | 2774 | Hydrocephalus growth retardation skeletal anomalies | | | ORPHA | 1 | | 105 | 6408 | 608968 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MAFB CL E G H | 9935 | 2774 | Hydrocephalus growth retardation skeletal anomalies | | | ORPHA | 1 | | 112 | 6408 | 608968 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MATN3 CL E G H | 4148 | 93311 | | | | ORPHA | 1 | | 138 | 6909 | 602109 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MATN3 CL E G H | 4148 | 93311 | | | | ORPHA | 1 | | 164 | 6909 | 602109 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MCOLN1 CL E G H | 57192 | 578 | Akesson syndrome | | | ORPHA | 1 | | 418 | 13356 | 605248 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MCOLN1 CL E G H | 57192 | 578 | Akesson syndrome | | | ORPHA | 1 | | 448 | 13356 | 605248 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MECP2 CL E G H | 4204 | 1762 | | | | ORPHA | 1 | | 1603 | 6990 | 300005 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MECP2 CL E G H | 4204 | 1762 | | | | ORPHA | 1 | | 1684 | 6990 | 300005 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MECR CL E G H | 51102 | 617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 617282 | C4310634 | OMIM | 1 | | 60 | 19691 | 608205 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MECR CL E G H | 51102 | 617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 617282 | C4310634 | OMIM | 1 | | 73 | 19691 | 608205 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MEFV CL E G H | 4210 | 117 | | | | ORPHA | 1 | | 737 | 6998 | 608107 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MEFV CL E G H | 4210 | 117 | | | | ORPHA | 1 | | 795 | 6998 | 608107 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MFN2 CL E G H | 9927 | 2398 | Froster Iskenius Waterson syndrome | | | ORPHA | 1 | | 824 | 16877 | 608507 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MFN2 CL E G H | 9927 | 2398 | Froster Iskenius Waterson syndrome | | | ORPHA | 1 | | 944 | 16877 | 608507 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MKS1 CL E G H | 54903 | 220493 | | | | ORPHA | 1 | | 477 | 7121 | 609883 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MKS1 CL E G H | 54903 | 220493 | | | | ORPHA | 1 | | 553 | 7121 | 609883 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MKS1 CL E G H | 54903 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 477 | 7121 | 609883 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MKS1 CL E G H | 54903 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 553 | 7121 | 609883 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MMADHC CL E G H | 27249 | 79283 | | | | ORPHA | 1 | | 175 | 25221 | 611935 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MMADHC CL E G H | 27249 | 79283 | | | | ORPHA | 1 | | 201 | 25221 | 611935 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MMP13 CL E G H | 4322 | 2501 | Glucose-6-phosphate translocase deficiency | | | ORPHA | 1 | | 152 | 7159 | 600108 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MMP13 CL E G H | 4322 | 2501 | Glucose-6-phosphate translocase deficiency | | | ORPHA | 1 | | 188 | 7159 | 600108 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MMP2 CL E G H | 4313 | 259600 | Multicentric osteolysis, nodulosis and arthropathy | 259600 | C1850155 | OMIM | 1 | | 199 | 7166 | 120360 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MMP2 CL E G H | 4313 | 259600 | Multicentric osteolysis, nodulosis and arthropathy | 259600 | C1850155 | OMIM | 1 | | 236 | 7166 | 120360 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MPZ CL E G H | 4359 | 3115 | | | | ORPHA | 1 | | 493 | 7225 | 159440 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MPZ CL E G H | 4359 | 3115 | | | | ORPHA | 1 | | 522 | 7225 | 159440 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MTHFR CL E G H | 4524 | 236250 | Homocysteinemia due to MTHFR deficiency | 236250 | C1856058 | OMIM | 1 | | 412 | 7436 | 607093 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MTHFR CL E G H | 4524 | 236250 | Homocysteinemia due to MTHFR deficiency | 236250 | C1856058 | OMIM | 1 | | 468 | 7436 | 607093 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MTM1 CL E G H | 4534 | 596 | Albright like syndrome | | | ORPHA | 1 | | 610 | 7448 | 300415 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MTM1 CL E G H | 4534 | 596 | Albright like syndrome | | | ORPHA | 1 | | 648 | 7448 | 300415 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MTR CL E G H | 4548 | 250940 | METHYLCOBALAMIN DEFICIENCY, cblG TYPE | 250940 | C1855128 | OMIM | 1 | | 580 | 7468 | 156570 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MTR CL E G H | 4548 | 250940 | METHYLCOBALAMIN DEFICIENCY, cblG TYPE | 250940 | C1855128 | OMIM | 1 | | 664 | 7468 | 156570 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MTRR CL E G H | 4552 | 236270 | Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type | 236270 | C1856057 | OMIM | 1 | | 523 | 7473 | 602568 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MTRR CL E G H | 4552 | 236270 | Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type | 236270 | C1856057 | OMIM | 1 | | 584 | 7473 | 602568 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MYH7 CL E G H | 4625 | 59135 | | | | ORPHA | 1 | | 2960 | 7577 | 160760 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MYH7 CL E G H | 4625 | 59135 | | | | ORPHA | 1 | | 3292 | 7577 | 160760 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MYH7 CL E G H | 4625 | 160500 | Myopathy, distal, 1 | 160500 | CN074249 | OMIM | 1 | | 2960 | 7577 | 160760 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | MYH7 CL E G H | 4625 | 160500 | Myopathy, distal, 1 | 160500 | CN074249 | OMIM | 1 | | 3292 | 7577 | 160760 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | NDRG1 CL E G H | 10397 | 601455 | Charcot-Marie-Tooth disease, type 4D | 601455 | C1832334 | OMIM | 1 | | 500 | 7679 | 605262 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | NDRG1 CL E G H | 10397 | 601455 | Charcot-Marie-Tooth disease, type 4D | 601455 | C1832334 | OMIM | 1 | | 546 | 7679 | 605262 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | NDUFAF6 CL E G H | 137682 | 618239 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 | 618239 | | OMIM | 1 | | 166 | 28625 | 612392 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | NDUFAF6 CL E G H | 137682 | 618239 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 | 618239 | | OMIM | 1 | | 185 | 28625 | 612392 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | NEU1 CL E G H | 4758 | 812 | | | | ORPHA | 1 | | 115 | 7758 | 608272 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | NEU1 CL E G H | 4758 | 812 | | | | ORPHA | 1 | | 134 | 7758 | 608272 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | NHLRC1 CL E G H | 378884 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 247 | 21576 | 608072 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | NHLRC1 CL E G H | 378884 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 289 | 21576 | 608072 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | NIPA1 CL E G H | 123606 | 100988 | | | | ORPHA | 1 | | 526 | 17043 | 608145 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | NIPA1 CL E G H | 123606 | 100988 | | | | ORPHA | 1 | | 557 | 17043 | 608145 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | NKX2-1 CL E G H | 7080 | 118700 | Benign hereditary chorea | 118700 | C0393584 | OMIM | 1 | | 170 | 11825 | 600635 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | NKX2-1 CL E G H | 7080 | 118700 | Benign hereditary chorea | 118700 | C0393584 | OMIM | 1 | | 194 | 11825 | 600635 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | NKX2-1 CL E G H | 7080 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 170 | 11825 | 600635 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | NKX2-1 CL E G H | 7080 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 194 | 11825 | 600635 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | NOTCH3 CL E G H | 4854 | 136 | | | | ORPHA | 1 | | 860 | 7883 | 600276 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | NOTCH3 CL E G H | 4854 | 136 | | | | ORPHA | 1 | | 946 | 7883 | 600276 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | NOTCH3 CL E G H | 4854 | 125310 | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | 125310 | C0751587 | OMIM | 1 | | 860 | 7883 | 600276 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | NOTCH3 CL E G H | 4854 | 125310 | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | 125310 | C0751587 | OMIM | 1 | | 946 | 7883 | 600276 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | NPHP1 CL E G H | 4867 | 220497 | | | | ORPHA | 1 | | 532 | 7905 | 607100 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | NPHP1 CL E G H | 4867 | 220497 | | | | ORPHA | 1 | | 626 | 7905 | 607100 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | OFD1 CL E G H | 8481 | 2754 | | | | ORPHA | 1 | | 647 | 2567 | 300170 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | OFD1 CL E G H | 8481 | 2754 | | | | ORPHA | 1 | | 723 | 2567 | 300170 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | OPA1 CL E G H | 4976 | 210000 | Abortive cerebellar ataxia | 210000 | C0221061 | OMIM | 1 | | 598 | 8140 | 605290 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | OPA1 CL E G H | 4976 | 210000 | Abortive cerebellar ataxia | 210000 | C0221061 | OMIM | 1 | | 739 | 8140 | 605290 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PABPN1 CL E G H | 8106 | 164300 | Oculopharyngeal muscular dystrophy | 164300 | C0270952 | OMIM | 1 | | 61 | 8565 | 602279 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PANK2 CL E G H | 80025 | 234200 | Pigmentary pallidal degeneration | 234200 | C0018523 | OMIM | 1 | | 263 | 15894 | 606157 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PANK2 CL E G H | 80025 | 234200 | Pigmentary pallidal degeneration | 234200 | C0018523 | OMIM | 1 | | 331 | 15894 | 606157 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PDE6D CL E G H | 5147 | 2754 | | | | ORPHA | 1 | | 41 | 8788 | 602676 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PDE6D CL E G H | 5147 | 2754 | | | | ORPHA | 1 | | 57 | 8788 | 602676 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PDE8B CL E G H | 8622 | 228169 | Autosomal dominant striatal neurodegeneration | | C1836694 | ORPHA | 1 | | 139 | 8794 | 603390 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PDE8B CL E G H | 8622 | 228169 | Autosomal dominant striatal neurodegeneration | | C1836694 | ORPHA | 1 | | 155 | 8794 | 603390 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PDE8B CL E G H | 8622 | 609161 | Striatal degeneration, autosomal dominant 1 | 609161 | C4310808 | OMIM | 1 | | 139 | 8794 | 603390 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PDE8B CL E G H | 8622 | 609161 | Striatal degeneration, autosomal dominant 1 | 609161 | C4310808 | OMIM | 1 | | 155 | 8794 | 603390 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PDGFB CL E G H | 5155 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 93 | 8800 | 190040 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PDGFB CL E G H | 5155 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 95 | 8800 | 190040 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PDGFRB CL E G H | 5159 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 283 | 8804 | 173410 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PDGFRB CL E G H | 5159 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 304 | 8804 | 173410 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PEX6 CL E G H | 5190 | 614863 | Peroxisome biogenesis disorder 4B | 614863 | C3553937 | OMIM | 1 | | 645 | 8859 | 601498 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PEX6 CL E G H | 5190 | 614863 | Peroxisome biogenesis disorder 4B | 614863 | C3553937 | OMIM | 1 | | 855 | 8859 | 601498 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PIBF1 CL E G H | 10464 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 96 | 23352 | 607532 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PIBF1 CL E G H | 10464 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 104 | 23352 | 607532 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PLEKHG4 CL E G H | 25894 | 98765 | | | | ORPHA | 1 | | 40 | 24501 | 609526 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PLEKHG4 CL E G H | 25894 | 98765 | | | | ORPHA | 1 | | 41 | 24501 | 609526 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PLOD1 CL E G H | 5351 | 1900 | | | | ORPHA | 1 | | 585 | 9081 | 153454 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PLOD1 CL E G H | 5351 | 1900 | | | | ORPHA | 1 | | 661 | 9081 | 153454 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PMP22 CL E G H | 5376 | 3115 | | | | ORPHA | 1 | | 390 | 9118 | 601097 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PMP22 CL E G H | 5376 | 3115 | | | | ORPHA | 1 | | 419 | 9118 | 601097 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PMPCA CL E G H | 23203 | 1170 | | | | ORPHA | 1 | | 128 | 18667 | 613036 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PMPCA CL E G H | 23203 | 1170 | | | | ORPHA | 1 | | 134 | 18667 | 613036 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PNPLA6 CL E G H | 10908 | 612020 | Spastic paraplegia 39 | 612020 | C2677586 | OMIM | 1 | | 669 | 16268 | 603197 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PNPLA6 CL E G H | 10908 | 612020 | Spastic paraplegia 39 | 612020 | C2677586 | OMIM | 1 | | 808 | 16268 | 603197 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | POLG CL E G H | 5428 | 94125 | Recessive mitochondrial ataxia syndrome | | CN206743 | ORPHA | 1 | | 1470 | 9179 | 174763 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | POLG CL E G H | 5428 | 94125 | Recessive mitochondrial ataxia syndrome | | CN206743 | ORPHA | 1 | | 1712 | 9179 | 174763 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | POMGNT1 CL E G H | 55624 | 588 | | | | ORPHA | 1 | | 662 | 19139 | 606822 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | POMGNT1 CL E G H | 55624 | 588 | | | | ORPHA | 1 | | 797 | 19139 | 606822 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | POMT1 CL E G H | 10585 | 588 | | | | ORPHA | 1 | | 609 | 9202 | 607423 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | POMT1 CL E G H | 10585 | 588 | | | | ORPHA | 1 | | 686 | 9202 | 607423 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | POMT2 CL E G H | 29954 | 588 | | | | ORPHA | 1 | | 604 | 19743 | 607439 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | POMT2 CL E G H | 29954 | 588 | | | | ORPHA | 1 | | 691 | 19743 | 607439 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PRDM16 CL E G H | 63976 | 1606 | | | | ORPHA | 1 | | 886 | 14000 | 605557 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PRDM16 CL E G H | 63976 | 1606 | | | | ORPHA | 1 | | 986 | 14000 | 605557 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PRDM5 CL E G H | 11107 | 90354 | | | | ORPHA | 1 | | 197 | 9349 | 614161 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PRDM5 CL E G H | 11107 | 90354 | | | | ORPHA | 1 | | 216 | 9349 | 614161 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PRKN CL E G H | 5071 | 600116 | Parkinson disease 2 | 600116 | C1868675 | OMIM | 1 | | 576 | 8607 | 602544 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PRKN CL E G H | 5071 | 600116 | Parkinson disease 2 | 600116 | C1868675 | OMIM | 1 | | 620 | 8607 | 602544 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 141 | 9438 | 603424 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PRKRA CL E G H | 8575 | 612067 | Dystonia 16 | 612067 | C2677567 | OMIM | 1 | | 151 | 9438 | 603424 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PRPS1 CL E G H | 5631 | 311070 | Charcot-Marie-Tooth disease, X-linked recessive, type 5 | 311070 | C1839566 | OMIM | 1 | | 303 | 9462 | 311850 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PRPS1 CL E G H | 5631 | 311070 | Charcot-Marie-Tooth disease, X-linked recessive, type 5 | 311070 | C1839566 | OMIM | 1 | | 321 | 9462 | 311850 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PSEN1 CL E G H | 5663 | 607822 | Alzheimer disease, type 3 | 607822 | C1843013 | OMIM | 1 | | 408 | 9508 | 104311 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | PSEN1 CL E G H | 5663 | 607822 | Alzheimer disease, type 3 | 607822 | C1843013 | OMIM | 1 | | 431 | 9508 | 104311 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | RAI1 CL E G H | 10743 | 819 | | | | ORPHA | 1 | | 515 | 9834 | 607642 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | RAI1 CL E G H | 10743 | 819 | | | | ORPHA | 1 | | 806 | 9834 | 607642 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | RANBP2 CL E G H | 5903 | 88619 | | | | ORPHA | 1 | | 703 | 9848 | 601181 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | RANBP2 CL E G H | 5903 | 88619 | | | | ORPHA | 1 | | 776 | 9848 | 601181 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | RERE CL E G H | 473 | 1606 | | | | ORPHA | 1 | | 229 | 9965 | 605226 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | RERE CL E G H | 473 | 1606 | | | | ORPHA | 1 | | 257 | 9965 | 605226 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | RNF125 CL E G H | 54941 | 616260 | Tenorio syndrome | 616260 | C4015710 | OMIM | 1 | | 76 | 21150 | 610432 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | RNF125 CL E G H | 54941 | 616260 | Tenorio syndrome | 616260 | C4015710 | OMIM | 1 | | 80 | 21150 | 610432 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | RPGRIP1L CL E G H | 23322 | 220497 | | | | ORPHA | 1 | | 794 | 29168 | 610937 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | RPGRIP1L CL E G H | 23322 | 220497 | | | | ORPHA | 1 | | 964 | 29168 | 610937 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | RPGRIP1L CL E G H | 23322 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 794 | 29168 | 610937 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | RPGRIP1L CL E G H | 23322 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 964 | 29168 | 610937 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | RPS6KA3 CL E G H | 6197 | 192 | Karandikar Maria Kamble syndrome | | | ORPHA | 1 | | 383 | 10432 | 300075 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | RPS6KA3 CL E G H | 6197 | 192 | Karandikar Maria Kamble syndrome | | | ORPHA | 1 | | 404 | 10432 | 300075 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | RYR1 CL E G H | 6261 | 424107 | | | | ORPHA | 1 | | 4101 | 10483 | 180901 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | RYR1 CL E G H | 6261 | 424107 | | | | ORPHA | 1 | | 4604 | 10483 | 180901 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | SBF1 CL E G H | 6305 | 615284 | Charcot-Marie-Tooth disease, type 4B3 | 615284 | C3695063 | OMIM | 1 | | 508 | 10542 | 603560 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | SBF1 CL E G H | 6305 | 615284 | Charcot-Marie-Tooth disease, type 4B3 | 615284 | C3695063 | OMIM | 1 | | 825 | 10542 | 603560 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | SCN4A CL E G H | 6329 | 682 | | | | ORPHA | 1 | | 1081 | 10591 | 603967 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | SCN4A CL E G H | 6329 | 682 | | | | ORPHA | 1 | | 1241 | 10591 | 603967 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | SCN4A CL E G H | 6329 | 99734 | | | | ORPHA | 1 | | 1081 | 10591 | 603967 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | SCN4A CL E G H | 6329 | 99734 | | | | ORPHA | 1 | | 1241 | 10591 | 603967 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | SCN4A CL E G H | 6329 | 614198 | Congenital myasthenic syndrome, acetazolamide-responsive | 614198 | C3502630 | OMIM | 1 | | 1081 | 10591 | 603967 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | SCN4A CL E G H | 6329 | 614198 | Congenital myasthenic syndrome, acetazolamide-responsive | 614198 | C3502630 | OMIM | 1 | | 1241 | 10591 | 603967 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | SIGMAR1 CL E G H | 10280 | 300605 | Juvenile amyotrophic lateral sclerosis | | CN239582 | ORPHA | 1 | | 161 | 8157 | 601978 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | SIGMAR1 CL E G H | 10280 | 300605 | Juvenile amyotrophic lateral sclerosis | | CN239582 | ORPHA | 1 | | 179 | 8157 | 601978 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | SKI CL E G H | 6497 | 1606 | | | | ORPHA | 1 | | 629 | 10896 | 164780 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | SKI CL E G H | 6497 | 1606 | | | | ORPHA | 1 | | 686 | 10896 | 164780 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | SLC20A2 CL E G H | 6575 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 220 | 10947 | 158378 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | SLC20A2 CL E G H | 6575 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 248 | 10947 | 158378 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | SLC39A14 CL E G H | 23516 | 617013 | Hypermanganesemia with dystonia 2 | 617013 | C4310765 | OMIM | 1 | | 136 | 20858 | 608736 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | SLC39A14 CL E G H | 23516 | 617013 | Hypermanganesemia with dystonia 2 | 617013 | C4310765 | OMIM | 1 | | 151 | 20858 | 608736 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | SLC6A5 CL E G H | 9152 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 223 | 11051 | 604159 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | SLC6A5 CL E G H | 9152 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 404 | 11051 | 604159 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | SLC6A8 CL E G H | 6535 | 300352 | Creatine deficiency, X-linked | 300352 | C1845862 | OMIM | 1 | | 716 | 11055 | 300036 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | SLC6A8 CL E G H | 6535 | 300352 | Creatine deficiency, X-linked | 300352 | C1845862 | OMIM | 1 | | 770 | 11055 | 300036 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | SNORD118 CL E G H | 727676 | 614561 | Leukoencephalopathy, brain calcifications, and cysts | 614561 | C3281200 | OMIM | 1 | | 67 | 32952 | 616663 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | SNORD118 CL E G H | 727676 | 614561 | Leukoencephalopathy, brain calcifications, and cysts | 614561 | C3281200 | OMIM | 1 | | 102 | 32952 | 616663 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | SPG11 CL E G H | 80208 | 2822 | Hyperinsulinism, focal | | | ORPHA | 1 | | 1494 | 11226 | 610844 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | SPG11 CL E G H | 80208 | 2822 | Hyperinsulinism, focal | | | ORPHA | 1 | | 1866 | 11226 | 610844 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | SPG11 CL E G H | 80208 | 300605 | Juvenile amyotrophic lateral sclerosis | | CN239582 | ORPHA | 1 | | 1494 | 11226 | 610844 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | SPG11 CL E G H | 80208 | 300605 | Juvenile amyotrophic lateral sclerosis | | CN239582 | ORPHA | 1 | | 1866 | 11226 | 610844 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | SPG21 CL E G H | 51324 | 248900 | Mast syndrome | 248900 | C1855346 | OMIM | 1 | | 122 | 20373 | 608181 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | SPG21 CL E G H | 51324 | 248900 | Mast syndrome | 248900 | C1855346 | OMIM | 1 | | 140 | 20373 | 608181 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | SPTBN2 CL E G H | 6712 | 98766 | | | | ORPHA | 1 | | 478 | 11276 | 604985 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | SPTBN2 CL E G H | 6712 | 98766 | | | | ORPHA | 1 | | 569 | 11276 | 604985 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | STAT4 CL E G H | 6775 | 117 | | | | ORPHA | 1 | | 62 | 11365 | 600558 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | STAT4 CL E G H | 6775 | 117 | | | | ORPHA | 1 | | 120 | 11365 | 600558 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | SYT2 CL E G H | 127833 | 616040 | Myasthenic syndrome, congenital, 7, presynaptic | 616040 | C4015038 | OMIM | 1 | | 79 | 11510 | 600104 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | SYT2 CL E G H | 127833 | 616040 | Myasthenic syndrome, congenital, 7, presynaptic | 616040 | C4015038 | OMIM | 1 | | 123 | 11510 | 600104 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TANGO2 CL E G H | 128989 | 616878 | TANGO2-Related Metabolic Encephalopathy and Arrhythmias | 616878 | C4225171 | OMIM | 1 | | 480 | 25439 | 616830 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TANGO2 CL E G H | 128989 | 616878 | TANGO2-Related Metabolic Encephalopathy and Arrhythmias | 616878 | C4225171 | OMIM | 1 | | 550 | 25439 | 616830 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TAZ CL E G H | 6901 | 302060 | 3-Methylglutaconic aciduria type 2 | 302060 | C0574083 | OMIM | 1 | | | 11577 | 300394 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TBP CL E G H | 6908 | 98759 | | | | ORPHA | 1 | | 102 | 11588 | 600075 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TBP CL E G H | 6908 | 98759 | | | | ORPHA | 1 | | 106 | 11588 | 600075 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TCTN1 CL E G H | 79600 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 163 | 26113 | 609863 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TCTN1 CL E G H | 79600 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 242 | 26113 | 609863 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TCTN2 CL E G H | 79867 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 281 | 25774 | 613846 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TCTN2 CL E G H | 79867 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 390 | 25774 | 613846 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TCTN2 CL E G H | 79867 | 616654 | Joubert syndrome 24 | 616654 | C4084841 | OMIM | 1 | | 281 | 25774 | 613846 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TCTN2 CL E G H | 79867 | 616654 | Joubert syndrome 24 | 616654 | C4084841 | OMIM | 1 | | 390 | 25774 | 613846 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TCTN3 CL E G H | 26123 | 2754 | | | | ORPHA | 1 | | 148 | 24519 | 613847 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TCTN3 CL E G H | 26123 | 2754 | | | | ORPHA | 1 | | 256 | 24519 | 613847 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TFG CL E G H | 10342 | 604484 | Neuropathy, hereditary motor and sensory, Okinawa type | 604484 | C1858338 | OMIM | 1 | | 237 | 11758 | 602498 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TFG CL E G H | 10342 | 604484 | Neuropathy, hereditary motor and sensory, Okinawa type | 604484 | C1858338 | OMIM | 1 | | 263 | 11758 | 602498 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TLR4 CL E G H | 7099 | 117 | | | | ORPHA | 1 | | 54 | 11850 | 603030 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TLR4 CL E G H | 7099 | 117 | | | | ORPHA | 1 | | 56 | 11850 | 603030 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TMEM216 CL E G H | 51259 | 2754 | | | | ORPHA | 1 | | 151 | 25018 | 613277 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TMEM216 CL E G H | 51259 | 2754 | | | | ORPHA | 1 | | 168 | 25018 | 613277 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TMEM237 CL E G H | 65062 | 220497 | | | | ORPHA | 1 | | 301 | 14432 | 614423 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TMEM237 CL E G H | 65062 | 220497 | | | | ORPHA | 1 | | 359 | 14432 | 614423 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TMEM237 CL E G H | 65062 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 301 | 14432 | 614423 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TMEM237 CL E G H | 65062 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 359 | 14432 | 614423 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TMEM67 CL E G H | 91147 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 402 | 28396 | 609884 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TMEM67 CL E G H | 91147 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 569 | 28396 | 609884 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TMEM67 CL E G H | 91147 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 402 | 28396 | 609884 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TMEM67 CL E G H | 91147 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 569 | 28396 | 609884 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TOR1A CL E G H | 1861 | 256 | Schrander-Stumpel Theunissen Hulsmans syndrome | | | ORPHA | 1 | | 156 | 3098 | 605204 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TOR1A CL E G H | 1861 | 256 | Schrander-Stumpel Theunissen Hulsmans syndrome | | | ORPHA | 1 | | 161 | 3098 | 605204 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TRPV4 CL E G H | 59341 | 93314 | | | | ORPHA | 1 | | 703 | 18083 | 605427 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TRPV4 CL E G H | 59341 | 93314 | | | | ORPHA | 1 | | 781 | 18083 | 605427 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 1 | | 218 | 12404 | 600415 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 1 | | 262 | 12404 | 600415 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TUBB2B CL E G H | 347733 | 1766 | | | | ORPHA | 1 | | 141 | 30829 | 612850 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TUBB2B CL E G H | 347733 | 1766 | | | | ORPHA | 1 | | 151 | 30829 | 612850 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TUBB4A CL E G H | 10382 | 98805 | | | | ORPHA | 1 | | 168 | 20774 | 602662 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TUBB4A CL E G H | 10382 | 98805 | | | | ORPHA | 1 | | 181 | 20774 | 602662 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TWNK CL E G H | 56652 | 609286 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609286 | C1836439 | OMIM | 1 | | 234 | 1160 | 606075 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TWNK CL E G H | 56652 | 609286 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 609286 | C1836439 | OMIM | 1 | | 270 | 1160 | 606075 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TYROBP CL E G H | 7305 | 221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | 221770 | C1857316 | OMIM | 1 | | 52 | 12449 | 604142 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | TYROBP CL E G H | 7305 | 221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | 221770 | C1857316 | OMIM | 1 | | 73 | 12449 | 604142 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | UBA1 CL E G H | 7317 | 1145 | | | | ORPHA | 1 | | 447 | 12469 | 314370 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | UBA1 CL E G H | 7317 | 1145 | | | | ORPHA | 1 | | 482 | 12469 | 314370 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | UBAC2 CL E G H | 337867 | 117 | | | | ORPHA | 1 | | 79 | 20486 | 0 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | UBAC2 CL E G H | 337867 | 117 | | | | ORPHA | 1 | | 82 | 20486 | 0 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | VAMP1 CL E G H | 6843 | 108600 | Ataxia, spastic, 1, autosomal dominant | 108600 | C1970107 | OMIM | 1 | | 83 | 12642 | 185880 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | VAMP1 CL E G H | 6843 | 108600 | Ataxia, spastic, 1, autosomal dominant | 108600 | C1970107 | OMIM | 1 | | 99 | 12642 | 185880 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | VCP CL E G H | 7415 | 167320 | Inclusion body myopathy with early-onset paget disease and frontotemporal dementia | 167320 | C1833662 | OMIM | 1 | | 356 | 12666 | 601023 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | VCP CL E G H | 7415 | 167320 | Inclusion body myopathy with early-onset paget disease and frontotemporal dementia | 167320 | C1833662 | OMIM | 1 | | 395 | 12666 | 601023 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | VDR CL E G H | 7421 | 93160 | | | | ORPHA | 1 | | 239 | 12679 | 601769 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | VDR CL E G H | 7421 | 93160 | | | | ORPHA | 1 | | 256 | 12679 | 601769 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | VHL CL E G H | 7428 | 892 | Billet Bear syndrome | | | ORPHA | 1 | | 1357 | 12687 | 608537 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | VHL CL E G H | 7428 | 892 | Billet Bear syndrome | | | ORPHA | 1 | | 1524 | 12687 | 608537 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | VLDLR CL E G H | 7436 | 1766 | | | | ORPHA | 1 | | 461 | 12698 | 192977 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | VLDLR CL E G H | 7436 | 1766 | | | | ORPHA | 1 | | 477 | 12698 | 192977 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | VPS13A CL E G H | 23230 | 2388 | | | | ORPHA | 1 | | 1246 | 1908 | 605978 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | VPS13A CL E G H | 23230 | 2388 | | | | ORPHA | 1 | | 1374 | 1908 | 605978 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | VPS37A CL E G H | 137492 | 614898 | Spastic paraplegia 53, autosomal recessive | 614898 | C3539494 | OMIM | 1 | | 173 | 24928 | 609927 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | VPS37A CL E G H | 137492 | 614898 | Spastic paraplegia 53, autosomal recessive | 614898 | C3539494 | OMIM | 1 | | 188 | 24928 | 609927 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | WDR81 CL E G H | 124997 | 1766 | | | | ORPHA | 1 | | 248 | 26600 | 614218 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | WDR81 CL E G H | 124997 | 1766 | | | | ORPHA | 1 | | 256 | 26600 | 614218 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | WNT1 CL E G H | 7471 | 85193 | | | | ORPHA | 1 | | 62 | 12774 | 164820 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | WNT1 CL E G H | 7471 | 85193 | | | | ORPHA | 1 | | 95 | 12774 | 164820 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | WNT3A CL E G H | 89780 | 85193 | | | | ORPHA | 1 | | 42 | 15983 | 606359 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | WNT3A CL E G H | 89780 | 85193 | | | | ORPHA | 1 | | 63 | 15983 | 606359 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ZBTB20 CL E G H | 26137 | 3042 | | | | ORPHA | 1 | | 132 | 13503 | 606025 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ZBTB20 CL E G H | 26137 | 3042 | | | | ORPHA | 1 | | 141 | 13503 | 606025 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ZFYVE26 CL E G H | 23503 | 100996 | | | | ORPHA | 1 | | 1264 | 20761 | 612012 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ZFYVE26 CL E G H | 23503 | 100996 | | | | ORPHA | 1 | | 1457 | 20761 | 612012 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ZNF469 CL E G H | 84627 | 90354 | | | | ORPHA | 1 | | 916 | 23216 | 612078 |
HP:0001288 | HP:0001288 | Gait disturbance | 0 | ZNF469 CL E G H | 84627 | 90354 | | | | ORPHA | 1 | | 1190 | 23216 | 612078 |
HP:0001288 | HP:0002064 | Spastic gait | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 388 | 119 | 609751 |
HP:0001288 | HP:0002064 | Spastic gait | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 435 | 119 | 609751 |
HP:0001288 | HP:0002355 | Difficulty walking | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 388 | 119 | 609751 |
HP:0001288 | HP:0002355 | Difficulty walking | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 435 | 119 | 609751 |
HP:0001288 | HP:0009878 | Cerebellar ataxia associated with quadrupedal gait | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 388 | 119 | 609751 |
HP:0001288 | HP:0009878 | Cerebellar ataxia associated with quadrupedal gait | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 435 | 119 | 609751 |
HP:0001288 | HP:0002066 | Gait ataxia | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 388 | 119 | 609751 |
HP:0001288 | HP:0002066 | Gait ataxia | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 435 | 119 | 609751 |
HP:0001288 | HP:0010521 | Gait apraxia | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 388 | 119 | 609751 |
HP:0001288 | HP:0010521 | Gait apraxia | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 435 | 119 | 609751 |
HP:0001288 | HP:0031955 | Antalgic gait | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 388 | 119 | 609751 |
HP:0001288 | HP:0031955 | Antalgic gait | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 435 | 119 | 609751 |
HP:0001288 | HP:0002136 | Broad-based gait | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 388 | 119 | 609751 |
HP:0001288 | HP:0002136 | Broad-based gait | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 435 | 119 | 609751 |
HP:0001288 | HP:0031953 | Cautious gait | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 388 | 119 | 609751 |
HP:0001288 | HP:0031953 | Cautious gait | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 435 | 119 | 609751 |
HP:0001288 | HP:0031847 | Difficulty walking backward | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 388 | 119 | 609751 |
HP:0001288 | HP:0031847 | Difficulty walking backward | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 435 | 119 | 609751 |
HP:0001288 | HP:0031954 | Dystonic gait | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 388 | 119 | 609751 |
HP:0001288 | HP:0031954 | Dystonic gait | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 435 | 119 | 609751 |
HP:0001288 | HP:0002527 | Falls | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 388 | 119 | 609751 |
HP:0001288 | HP:0002527 | Falls | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 435 | 119 | 609751 |
HP:0001288 | HP:0031825 | Freezing of gait | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 388 | 119 | 609751 |
HP:0001288 | HP:0031825 | Freezing of gait | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 435 | 119 | 609751 |
HP:0001288 | HP:0002141 | Gait imbalance | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 388 | 119 | 609751 |
HP:0001288 | HP:0002141 | Gait imbalance | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 435 | 119 | 609751 |
HP:0001288 | HP:0031629 | Impaired tandem gait | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 388 | 119 | 609751 |
HP:0001288 | HP:0031629 | Impaired tandem gait | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 435 | 119 | 609751 |
HP:0001288 | HP:0002540 | Inability to walk | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 388 | 119 | 609751 |
HP:0001288 | HP:0002540 | Inability to walk | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 435 | 119 | 609751 |
HP:0001288 | HP:0031952 | Neurogenic claudication | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 388 | 119 | 609751 |
HP:0001288 | HP:0031952 | Neurogenic claudication | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 435 | 119 | 609751 |
HP:0001288 | HP:0002362 | Shuffling gait | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 388 | 119 | 609751 |
HP:0001288 | HP:0002362 | Shuffling gait | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 435 | 119 | 609751 |
HP:0001288 | HP:0003376 | Steppage gait | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 388 | 119 | 609751 |
HP:0001288 | HP:0003376 | Steppage gait | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 435 | 119 | 609751 |
HP:0001288 | HP:0030051 | Tip-toe gait | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 388 | 119 | 609751 |
HP:0001288 | HP:0030051 | Tip-toe gait | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 435 | 119 | 609751 |
HP:0001288 | HP:0040083 | Toe walking | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 388 | 119 | 609751 |
HP:0001288 | HP:0040083 | Toe walking | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 435 | 119 | 609751 |
HP:0001288 | HP:0002317 | Unsteady gait | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 388 | 119 | 609751 |
HP:0001288 | HP:0002317 | Unsteady gait | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 435 | 119 | 609751 |
HP:0001288 | HP:0002515 | Waddling gait | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 388 | 119 | 609751 |
HP:0001288 | HP:0002515 | Waddling gait | 1 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 435 | 119 | 609751 |
HP:0001288 | HP:0002064 | Spastic gait | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 293 | 236 | 600293 |
HP:0001288 | HP:0002064 | Spastic gait | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 365 | 236 | 600293 |
HP:0001288 | HP:0002355 | Difficulty walking | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 293 | 236 | 600293 |
HP:0001288 | HP:0002355 | Difficulty walking | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 365 | 236 | 600293 |
HP:0001288 | HP:0009878 | Cerebellar ataxia associated with quadrupedal gait | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 293 | 236 | 600293 |
HP:0001288 | HP:0009878 | Cerebellar ataxia associated with quadrupedal gait | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 365 | 236 | 600293 |
HP:0001288 | HP:0002066 | Gait ataxia | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 293 | 236 | 600293 |
HP:0001288 | HP:0002066 | Gait ataxia | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 365 | 236 | 600293 |
HP:0001288 | HP:0010521 | Gait apraxia | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 293 | 236 | 600293 |
HP:0001288 | HP:0010521 | Gait apraxia | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 365 | 236 | 600293 |
HP:0001288 | HP:0031955 | Antalgic gait | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 293 | 236 | 600293 |
HP:0001288 | HP:0031955 | Antalgic gait | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 365 | 236 | 600293 |
HP:0001288 | HP:0002136 | Broad-based gait | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 293 | 236 | 600293 |
HP:0001288 | HP:0002136 | Broad-based gait | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 365 | 236 | 600293 |
HP:0001288 | HP:0031953 | Cautious gait | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 293 | 236 | 600293 |
HP:0001288 | HP:0031953 | Cautious gait | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 365 | 236 | 600293 |
HP:0001288 | HP:0031847 | Difficulty walking backward | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 293 | 236 | 600293 |
HP:0001288 | HP:0031847 | Difficulty walking backward | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 365 | 236 | 600293 |
HP:0001288 | HP:0031954 | Dystonic gait | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 293 | 236 | 600293 |
HP:0001288 | HP:0031954 | Dystonic gait | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 365 | 236 | 600293 |
HP:0001288 | HP:0002527 | Falls | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 293 | 236 | 600293 |
HP:0001288 | HP:0002527 | Falls | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 365 | 236 | 600293 |
HP:0001288 | HP:0031825 | Freezing of gait | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 293 | 236 | 600293 |
HP:0001288 | HP:0031825 | Freezing of gait | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 365 | 236 | 600293 |
HP:0001288 | HP:0002141 | Gait imbalance | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 293 | 236 | 600293 |
HP:0001288 | HP:0002141 | Gait imbalance | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 365 | 236 | 600293 |
HP:0001288 | HP:0031629 | Impaired tandem gait | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 293 | 236 | 600293 |
HP:0001288 | HP:0031629 | Impaired tandem gait | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 365 | 236 | 600293 |
HP:0001288 | HP:0002540 | Inability to walk | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 293 | 236 | 600293 |
HP:0001288 | HP:0002540 | Inability to walk | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 365 | 236 | 600293 |
HP:0001288 | HP:0031952 | Neurogenic claudication | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 293 | 236 | 600293 |
HP:0001288 | HP:0031952 | Neurogenic claudication | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 365 | 236 | 600293 |
HP:0001288 | HP:0002362 | Shuffling gait | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 293 | 236 | 600293 |
HP:0001288 | HP:0002362 | Shuffling gait | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 365 | 236 | 600293 |
HP:0001288 | HP:0003376 | Steppage gait | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 293 | 236 | 600293 |
HP:0001288 | HP:0003376 | Steppage gait | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 365 | 236 | 600293 |
HP:0001288 | HP:0030051 | Tip-toe gait | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 293 | 236 | 600293 |
HP:0001288 | HP:0030051 | Tip-toe gait | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 365 | 236 | 600293 |
HP:0001288 | HP:0040083 | Toe walking | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 293 | 236 | 600293 |
HP:0001288 | HP:0040083 | Toe walking | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 365 | 236 | 600293 |
HP:0001288 | HP:0002317 | Unsteady gait | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 293 | 236 | 600293 |
HP:0001288 | HP:0002317 | Unsteady gait | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 365 | 236 | 600293 |
HP:0001288 | HP:0002515 | Waddling gait | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 293 | 236 | 600293 |
HP:0001288 | HP:0002515 | Waddling gait | 1 | ADCY5 CL E G H | 111 | 1429 | Collins Sakati syndrome | | | ORPHA | 1 | | 365 | 236 | 600293 |
HP:0001288 | HP:0002064 | Spastic gait | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0002064 | Spastic gait | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0002355 | Difficulty walking | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0002355 | Difficulty walking | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0009878 | Cerebellar ataxia associated with quadrupedal gait | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0009878 | Cerebellar ataxia associated with quadrupedal gait | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0002066 | Gait ataxia | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0002066 | Gait ataxia | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0010521 | Gait apraxia | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0010521 | Gait apraxia | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0031955 | Antalgic gait | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0031955 | Antalgic gait | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0002136 | Broad-based gait | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0002136 | Broad-based gait | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0031953 | Cautious gait | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0031953 | Cautious gait | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0031847 | Difficulty walking backward | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0031847 | Difficulty walking backward | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0031954 | Dystonic gait | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0031954 | Dystonic gait | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0002527 | Falls | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0002527 | Falls | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0031825 | Freezing of gait | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0031825 | Freezing of gait | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0002141 | Gait imbalance | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0002141 | Gait imbalance | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0031629 | Impaired tandem gait | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0031629 | Impaired tandem gait | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0002540 | Inability to walk | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0002540 | Inability to walk | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0031952 | Neurogenic claudication | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0031952 | Neurogenic claudication | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0002362 | Shuffling gait | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0002362 | Shuffling gait | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0003376 | Steppage gait | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0003376 | Steppage gait | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0030051 | Tip-toe gait | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0030051 | Tip-toe gait | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0040083 | Toe walking | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0040083 | Toe walking | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0002317 | Unsteady gait | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0002317 | Unsteady gait | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0002515 | Waddling gait | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0002515 | Waddling gait | 1 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0002064 | Spastic gait | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0002064 | Spastic gait | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0002355 | Difficulty walking | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0002355 | Difficulty walking | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0009878 | Cerebellar ataxia associated with quadrupedal gait | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0009878 | Cerebellar ataxia associated with quadrupedal gait | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0002066 | Gait ataxia | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0002066 | Gait ataxia | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0010521 | Gait apraxia | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0010521 | Gait apraxia | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0031955 | Antalgic gait | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0031955 | Antalgic gait | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0002136 | Broad-based gait | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0002136 | Broad-based gait | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0031953 | Cautious gait | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0031953 | Cautious gait | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0031847 | Difficulty walking backward | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0031847 | Difficulty walking backward | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0031954 | Dystonic gait | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0031954 | Dystonic gait | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0002527 | Falls | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0002527 | Falls | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0031825 | Freezing of gait | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0031825 | Freezing of gait | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0002141 | Gait imbalance | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0002141 | Gait imbalance | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0031629 | Impaired tandem gait | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0031629 | Impaired tandem gait | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0002540 | Inability to walk | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0002540 | Inability to walk | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0031952 | Neurogenic claudication | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0031952 | Neurogenic claudication | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0002362 | Shuffling gait | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0002362 | Shuffling gait | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0003376 | Steppage gait | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0003376 | Steppage gait | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0030051 | Tip-toe gait | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0030051 | Tip-toe gait | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0040083 | Toe walking | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0040083 | Toe walking | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0002317 | Unsteady gait | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0002317 | Unsteady gait | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0002515 | Waddling gait | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001288 | HP:0002515 | Waddling gait | 1 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001288 | HP:0002064 | Spastic gait | 1 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 346 | 9722 | 138250 |
HP:0001288 | HP:0002064 | Spastic gait | 1 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 392 | 9722 | 138250 |
HP:0001288 | HP:0002355 | Difficulty walking | 1 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 346 | 9722 | 138250 |
HP:0001288 | HP:0002355 | Difficulty walking | 1 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 392 | 9722 | 138250 |
HP:0001288 | HP:0009878 | Cerebellar ataxia associated with quadrupedal gait | 1 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 346 | 9722 | 138250 |
HP:0001288 | HP:0009878 | Cerebellar ataxia associated with quadrupedal gait | 1 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 392 | 9722 | 138250 |
HP:0001288 | HP:0002066 | Gait ataxia | 1 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 346 | 9722 | 138250 |
HP:0001288 | HP:0002066 | Gait ataxia | 1 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 392 | 9722 | 138250 |
HP:0001288 | HP:0010521 | Gait apraxia | 1 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 346 | 9722 | 138250 |
HP:0001288 | HP:0010521 | Gait apraxia | 1 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 392 | 9722 | 138250 |
HP:0001288 | HP:0031955 | Antalgic gait | 1 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 346 | 9722 | 138250 |
HP:0001288 | HP:0031955 | Antalgic gait | 1 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 392 | 9722 | 138250 |
HP:0001288 | HP:0002136 | Broad-based gait | 1 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 346 | 9722 | 138250 |
HP:0001288 | HP:0002136 | Broad-based gait | 1 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 392 | 9722 | 138250 |
HP:0001288 | HP:0031953 | Cautious gait | 1 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 346 | 9722 | 138250 |
HP:0001288 | HP:0031953 | Cautious gait | 1 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 392 | 9722 | 138250 |
HP:0001288 | HP:0031847 | Difficulty walking backward | 1 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 346 | 9722 | 138250 |
HP:0001288 | HP:0031847 | Difficulty walking backward | 1 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 392 | 9722 | 138250 |
HP:0001288 | HP:0031954 | Dystonic gait | 1 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 346 | 9722 | 138250 |
HP:0001288 | HP:0031954 | Dystonic gait | 1 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 392 | 9722 | 138250 |
HP:0001288 | HP:0002527 | Falls | 1 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 346 | 9722 | 138250 |
HP:0001288 | HP:0002527 | Falls | 1 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 392 | 9722 | 138250 |
HP:0001288 | HP:0031825 | Freezing of gait | 1 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 346 | 9722 | 138250 |
HP:0001288 | HP:0031825 | Freezing of gait | 1 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 392 | 9722 | 138250 |
HP:0001288 | HP:0002141 | Gait imbalance | 1 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 346 | 9722 | 138250 |
HP:0001288 | HP:0002141 | Gait imbalance | 1 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 392 | 9722 | 138250 |
HP:0001288 | HP:0031629 | Impaired tandem gait | 1 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 346 | 9722 | 138250 |
HP:0001288 | HP:0031629 | Impaired tandem gait | 1 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 392 | 9722 | |