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:0001761 | HP:0001761 | Pes cavus | 0 | AARS CL E G H | 16 | 613287 | Charcot-Marie-Tooth disease, type 2N | 613287 | C2750090 | OMIM | 1 | | | 20 | 601065 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | ABHD12 CL E G H | 26090 | 612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | 612674 | C2675204 | OMIM | 1 | | 430 | 15868 | 613599 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | AIFM1 CL E G H | 9131 | 101078 | | | | ORPHA | 1 | | 487 | 8768 | 300169 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | ALDH18A1 CL E G H | 5832 | 447753 | | | | ORPHA | 1 | | 437 | 9722 | 138250 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 437 | 9722 | 138250 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | ALS2 CL E G H | 57679 | 607225 | Infantile-onset ascending hereditary spastic paralysis | 607225 | C2931441 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | ANO10 CL E G H | 55129 | 284289 | | | | ORPHA | 1 | | 240 | 25519 | 613726 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | ANO10 CL E G H | 55129 | 613728 | Spinocerebellar ataxia, autosomal recessive 10 | 613728 | C3150998 | OMIM | 1 | | 240 | 25519 | 613726 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | ANOS1 CL E G H | 3730 | 308700 | Kallmann syndrome 1 | 308700 | C1563719 | OMIM | 1 | | 426 | 6211 | 300836 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 288 | 15984 | 606350 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | ATL1 CL E G H | 51062 | 613708 | Hereditary sensory neuropathy type 1D | 613708 | C3150972 | OMIM | 1 | | 408 | 11231 | 606439 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | ATL1 CL E G H | 51062 | 182600 | Spastic paraplegia 3 | 182600 | C2931355 | OMIM | 1 | | 408 | 11231 | 606439 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | ATP1A3 CL E G H | 478 | 601338 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss | 601338 | C1832466 | OMIM | 1 | | 790 | 801 | 182350 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | ATP7A CL E G H | 538 | 300489 | Distal spinal muscular atrophy, X-linked 3 | 300489 | C1845359 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | B3GLCT CL E G H | 145173 | 261540 | Peters plus syndrome | 261540 | C0796012 | OMIM | 1 | | 266 | 20207 | 610308 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | B4GALNT1 CL E G H | 2583 | 609195 | Spastic paraplegia 26 | 609195 | C1836632 | OMIM | 1 | | 192 | 4117 | 601873 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | BAG3 CL E G H | 9531 | 612954 | Myofibrillar myopathy, BAG3-related | 612954 | C2751831 | OMIM | 1 | | 856 | 939 | 603883 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | BSCL2 CL E G H | 26580 | 270685 | Spastic paraplegia 17 | 270685 | CN074197 | OMIM | 1 | | 435 | 15832 | 606158 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | C19orf12 CL E G H | 83636 | 320370 | | | | ORPHA | 1 | | 276 | 25443 | 614297 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 276 | 25443 | 614297 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | C19orf12 CL E G H | 83636 | 615043 | Spastic paraplegia 43, autosomal recessive | 615043 | C2680446 | OMIM | 1 | | 276 | 25443 | 614297 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | CAPN1 CL E G H | 823 | 488594 | | | | ORPHA | 1 | | 124 | 1476 | 114220 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | CAV3 CL E G H | 859 | 614321 | Distal myopathy, Tateyama type | 614321 | C3280443 | OMIM | 1 | | 390 | 1529 | 601253 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | CHCHD10 CL E G H | 400916 | 615048 | Spinal muscular atrophy, jokela type | 615048 | C3554398 | OMIM | 1 | | 248 | 15559 | 615903 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | CHMP1A CL E G H | 5119 | 614961 | Pontocerebellar hypoplasia type 8 | 614961 | C3554209 | OMIM | 1 | | 188 | 8740 | 164010 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | COQ8A CL E G H | 56997 | 612016 | Coenzyme Q10 deficiency, primary, 4 | 612016 | C2677589 | OMIM | 1 | | 504 | 16812 | 606980 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | COX6A1 CL E G H | 1337 | 616039 | Charcot-Marie-Tooth disease, recessive intermediate d | 616039 | C4015029 | OMIM | 1 | | 74 | 2277 | 602072 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | CTDP1 CL E G H | 9150 | 604168 | Congenital Cataracts, Facial Dysmorphism, and Neuropathy | 604168 | C1858726 | OMIM | 1 | | 383 | 2498 | 604927 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | CUL4B CL E G H | 8450 | 85293 | | | | ORPHA | 1 | | 347 | 2555 | 300304 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | CUL4B CL E G H | 8450 | 300354 | Syndromic X-linked mental retardation, Cabezas type | 300354 | C1845861 | OMIM | 1 | | 347 | 2555 | 300304 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | CYP7B1 CL E G H | 9420 | 100986 | | | | ORPHA | 1 | | 333 | 2652 | 603711 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | DCAF8 CL E G H | 50717 | 610100 | Giant axonal neuropathy 2, autosomal dominant | 610100 | C1864695 | OMIM | 1 | | 34 | 24891 | 615820 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | DDHD1 CL E G H | 80821 | 101008 | | | | ORPHA | 1 | | 302 | 19714 | 614603 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | DDHD1 CL E G H | 80821 | 609340 | Spastic paraplegia 28, autosomal recessive | 609340 | C1836295 | OMIM | 1 | | 302 | 19714 | 614603 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 1 | | 235 | 15469 | 608375 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | DNM2 CL E G H | 1785 | 606482 | Charcot-Marie-Tooth disease, dominant intermediate B | 606482 | C1847902 | OMIM | 1 | | 885 | 2974 | 602378 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | DYNC1H1 CL E G H | 1778 | 614228 | Charcot-Marie-Tooth disease, axonal, type 2O | 614228 | C3280220 | OMIM | 1 | | 2974 | 2961 | 600112 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | EGR2 CL E G H | 1959 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | ERLIN2 CL E G H | 11160 | 611225 | Spastic paraplegia 18 | 611225 | C2749936 | OMIM | 1 | | 159 | 1356 | 611605 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | EZH2 CL E G H | 2146 | 277590 | Weaver syndrome | 277590 | C0265210 | OMIM | 1 | | 416 | 3527 | 601573 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | FBLN5 CL E G H | 10516 | 608895 | Age-related macular degeneration 3 | 608895 | C1837187 | OMIM | 1 | | 315 | 3602 | 604580 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | FBN1 CL E G H | 2200 | 154700 | Marfan syndrome | 154700 | C0024796 | OMIM | 1 | | 5970 | 3603 | 134797 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | FGD4 CL E G H | 121512 | 609311 | Charcot-Marie-Tooth disease, type 4H | 609311 | C1836336 | OMIM | 1 | | 659 | 19125 | 611104 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | FGF14 CL E G H | 2259 | 98764 | | | | ORPHA | 1 | | 208 | 3671 | 601515 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | FLRT1 CL E G H | 23769 | 320406 | | | | ORPHA | 1 | | 131 | 3760 | 604806 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 1 | | 143 | 3951 | 606829 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | FXN CL E G H | 2395 | 229300 | Friedreich ataxia 1 | 229300 | C1856689 | OMIM | 1 | | 143 | 3951 | 606829 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | GAN CL E G H | 8139 | 643 | | | | ORPHA | 1 | | 661 | 4137 | 605379 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 661 | 4137 | 605379 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | GARS CL E G H | 2617 | 601472 | Charcot-Marie-Tooth disease type 2D | 601472 | C1832274 | OMIM | 1 | | | 4162 | 600287 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | GBA CL E G H | 2629 | 231005 | Gaucher disease type 3C | 231005 | C1856476 | OMIM | 1 | | | 4177 | 606463 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | GBA2 CL E G H | 57704 | 614409 | Spastic paraplegia 46, autosomal recessive | 614409 | C2828721 | OMIM | 1 | | 277 | 18986 | 609471 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | GCH1 CL E G H | 2643 | 98808 | | | | ORPHA | 1 | | 364 | 4193 | 600225 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | GCH1 CL E G H | 2643 | 128230 | Dystonia 5, Dopa-responsive type | 128230 | C1851920 | OMIM | 1 | | 364 | 4193 | 600225 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | GDAP1 CL E G H | 54332 | 607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 607706 | C1843183 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | GDAP1 CL E G H | 54332 | 608340 | Charcot-Marie-Tooth disease, recessive intermediate A | 608340 | C1842197 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | GJB1 CL E G H | 2705 | 101075 | | | | ORPHA | 1 | | 797 | 4283 | 304040 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | GJB1 CL E G H | 2705 | 1175 | CDK4 linked melanoma | | | ORPHA | 1 | | 797 | 4283 | 304040 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | GJB1 CL E G H | 2705 | 302800 | X-linked hereditary motor and sensory neuropathy | 302800 | C0393808 | OMIM | 1 | | 797 | 4283 | 304040 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | GJB2 CL E G H | 2706 | 602540 | Hystrix-like ichthyosis with deafness | 602540 | C1865234 | OMIM | 1 | | 516 | 4284 | 121011 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | GJB2 CL E G H | 2706 | 148210 | Keratitis-ichthyosis-deafness syndrome, autosomal dominant | 148210 | C1835678 | OMIM | 1 | | 516 | 4284 | 121011 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | GJC2 CL E G H | 57165 | 320401 | | | | ORPHA | 1 | | 250 | 17494 | 608803 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | GJC2 CL E G H | 57165 | 613206 | Spastic paraplegia 44, autosomal recessive | 613206 | C2750784 | OMIM | 1 | | 250 | 17494 | 608803 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | GNB4 CL E G H | 59345 | 615185 | Charcot-Marie-Tooth disease, dominant intermediate F | 615185 | C3554654 | OMIM | 1 | | 221 | 20731 | 610863 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | HARS CL E G H | 3035 | 488333 | | | | ORPHA | 1 | | | 4816 | 142810 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | HARS CL E G H | 3035 | 616625 | Charcot-Marie-Tooth disease, axonal, type 2w | 616625 | C4225265 | OMIM | 1 | | | 4816 | 142810 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | HDAC8 CL E G H | 55869 | 3459 | | | | ORPHA | 1 | | 322 | 13315 | 300269 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | HSD17B4 CL E G H | 3295 | 233400 | Perrault syndrome 1 | 233400 | | OMIM | 1 | | 786 | 5213 | 601860 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | HSPB1 CL E G H | 3315 | 606595 | Charcot-Marie-Tooth disease type 2F | 606595 | C1847823 | OMIM | 1 | | 329 | 5246 | 602195 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | HSPB8 CL E G H | 26353 | 608673 | Charcot-Marie-Tooth disease, type 2L | 608673 | C1837552 | OMIM | 1 | | 192 | 30171 | 608014 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | IBA57 CL E G H | 200205 | 468661 | | | | ORPHA | 1 | | 178 | 27302 | 615316 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | IDS CL E G H | 3423 | 309900 | Mucopolysaccharidosis, MPS-II | 309900 | C0026705 | OMIM | 1 | | 768 | 5389 | 300823 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | IDUA CL E G H | 3425 | 607016 | Mucopolysaccharidosis, MPS-I-S | 607016 | C0026708 | OMIM | 1 | | 1313 | 5391 | 252800 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | IFIH1 CL E G H | 64135 | 182250 | Singleton-Merten syndrome 1 | 182250 | C4225427 | OMIM | 1 | | 892 | 18873 | 606951 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | IFRD1 CL E G H | 3475 | 98771 | | | | ORPHA | 1 | | 52 | 5456 | 603502 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | INF2 CL E G H | 64423 | 614455 | Charcot-Marie-Tooth disease, dominant intermediate E | 614455 | C3280845 | OMIM | 1 | | 1150 | 23791 | 610982 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | IQSEC2 CL E G H | 23096 | 217377 | | | | ORPHA | 1 | | 955 | 29059 | 300522 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | KARS CL E G H | 3735 | 613641 | Charcot-Marie-Tooth disease, recessive intermediate B | 613641 | C3150897 | OMIM | 1 | | | 6215 | 601421 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | KIF1B CL E G H | 23095 | 118210 | Charcot-Marie-Tooth disease, type 2A1 | 118210 | C1861678 | OMIM | 1 | | 2041 | 16636 | 605995 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | KIF5A CL E G H | 3798 | 604187 | Spastic paraplegia 10 | 604187 | C1858712 | OMIM | 1 | | 744 | 6323 | 602821 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | KLC2 CL E G H | 64837 | 320406 | | | | ORPHA | 1 | | 61 | 20716 | 611729 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | KLC2 CL E G H | 64837 | 609541 | Spastic paraplegia, optic atrophy, and neuropathy | 609541 | C1836010 | OMIM | 1 | | 61 | 20716 | 611729 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | L1CAM CL E G H | 3897 | 303350 | Spastic paraplegia 1 | 303350 | C0795953 | OMIM | 1 | | 794 | 6470 | 308840 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | LAMP2 CL E G H | 3920 | 300257 | Danon disease | 300257 | C0878677 | OMIM | 1 | | 759 | 6501 | 309060 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | LAS1L CL E G H | 81887 | 3459 | | | | ORPHA | 1 | | 243 | 25726 | 300964 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | LAS1L CL E G H | 81887 | 309585 | Wilson-Turner X-linked mental retardation syndrome | 309585 | C1839736 | OMIM | 1 | | 243 | 25726 | 300964 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | LITAF CL E G H | 9516 | 601098 | Charcot-Marie-Tooth disease, type 1C | 601098 | C0270913 | OMIM | 1 | | 270 | 16841 | 603795 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | LMNA CL E G H | 4000 | 605588 | Charcot-Marie-Tooth disease type 2B1 | 605588 | C1854154 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | LRSAM1 CL E G H | 90678 | 614436 | Charcot-Marie-Tooth disease type 2P | 614436 | C3280797 | OMIM | 1 | | 707 | 25135 | 610933 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | MAFB CL E G H | 9935 | 166300 | Multicentric osteolysis nephropathy | 166300 | C2674705 | OMIM | 1 | | 119 | 6408 | 608968 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | MECP2 CL E G H | 4204 | 300055 | Mental retardation, X-linked, syndromic 13 | 300055 | C1968550 | OMIM | 1 | | 1778 | 6990 | 300005 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | MFN2 CL E G H | 9927 | 99947 | | | | ORPHA | 1 | | 1063 | 16877 | 608507 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | MFN2 CL E G H | 9927 | 617087 | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | 617087 | C4310725 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | MFN2 CL E G H | 9927 | 601152 | Hereditary motor and sensory neuropathy with optic atrophy | 601152 | C0393807 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | MME CL E G H | 4311 | 497764 | | | | ORPHA | 1 | | 422 | 7154 | 120520 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | MME CL E G H | 4311 | 617018 | Spinocerebellar ataxia 43 | 617018 | C4310763 | OMIM | 1 | | 422 | 7154 | 120520 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | MMP2 CL E G H | 4313 | 259600 | Multicentric osteolysis, nodulosis and arthropathy | 259600 | C1850155 | OMIM | 1 | | 271 | 7166 | 120360 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | MORC2 CL E G H | 22880 | 616688 | Charcot-Marie-Tooth disease, axonal, type 2z | 616688 | C4225243 | OMIM | 1 | | 585 | 23573 | 616661 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | MPZ CL E G H | 4359 | 607677 | Charcot-Marie-Tooth disease type 2I | 607677 | C3888087 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | MPZ CL E G H | 4359 | 607736 | Charcot-Marie-Tooth disease type 2J | 607736 | C1843153 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | MPZ CL E G H | 4359 | 118200 | Charcot-Marie-Tooth disease, demyelinating, type 1b | 118200 | C0270912 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | MPZ CL E G H | 4359 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | MPZ CL E G H | 4359 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | MSTO1 CL E G H | 55154 | 502423 | | | | ORPHA | 1 | | 85 | 29678 | 617619 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | MSTO1 CL E G H | 55154 | 617675 | MYOPATHY, MITOCHONDRIAL, AND ATAXIA | 617675 | C4540096 | OMIM | 1 | | 85 | 29678 | 617619 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | MYH7 CL E G H | 4625 | 437572 | | | | ORPHA | 1 | | 3612 | 7577 | 160760 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | MYH7 CL E G H | 4625 | 160500 | Myopathy, distal, 1 | 160500 | CN074249 | OMIM | 1 | | 3612 | 7577 | 160760 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | NEFH CL E G H | 4744 | 616924 | Charcot-Marie-Tooth disease, axonal, type 2CC | 616924 | C4310790 | OMIM | 1 | | 465 | 7737 | 162230 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | NEFL CL E G H | 4747 | 607684 | Charcot-Marie-Tooth disease type 2E | 607684 | C1843225 | OMIM | 1 | | 543 | 7739 | 162280 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | NEFL CL E G H | 4747 | 607734 | Charcot-Marie-Tooth disease, demyelinating, type 1f | 607734 | C1843164 | OMIM | 1 | | 543 | 7739 | 162280 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | NEFL CL E G H | 4747 | 617882 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G | 617882 | CN847583 | OMIM | 1 | | 543 | 7739 | 162280 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | NIPA1 CL E G H | 123606 | 100988 | | | | ORPHA | 1 | | 576 | 17043 | 608145 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | NIPA1 CL E G H | 123606 | 600363 | Spastic paraplegia 6 | 600363 | C1838192 | OMIM | 1 | | 576 | 17043 | 608145 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | PCNA CL E G H | 5111 | 615919 | Ataxia-telangiectasia-like disorder 2 | 615919 | C4014676 | OMIM | 1 | | 41 | 8729 | 176740 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | PDK3 CL E G H | 5165 | 300905 | Charcot-Marie-Tooth disease, X-linked dominant, 6 | 300905 | C3806702 | OMIM | 1 | | 294 | 8811 | 300906 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | PEX5 CL E G H | 5830 | 616716 | Rhizomelic chondrodysplasia punctata type 5 | 616716 | C4225237 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | PEX7 CL E G H | 5191 | 614879 | Peroxisome biogenesis disorder 9B | 614879 | CN159238 | OMIM | 1 | | 441 | 8860 | 601757 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | PEX7 CL E G H | 5191 | 266500 | Phytanic acid storage disease | 266500 | C0034960 | OMIM | 1 | | 441 | 8860 | 601757 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | PHYH CL E G H | 5264 | 266500 | Phytanic acid storage disease | 266500 | C0034960 | OMIM | 1 | | 303 | 8940 | 602026 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | PLEKHG5 CL E G H | 57449 | 615376 | Charcot-Marie-Tooth disease, recessive intermediate c | 615376 | C3809309 | OMIM | 1 | | 934 | 29105 | 611101 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | PLP1 CL E G H | 5354 | 312920 | Spastic paraplegia 2 | 312920 | C1839264 | OMIM | 1 | | 391 | 9086 | 300401 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | PMP2 CL E G H | 5375 | 618279 | 618279 | 618279 | | OMIM | 1 | | 96 | 9117 | 170715 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | PMP22 CL E G H | 5376 | 101081 | | | | ORPHA | 1 | | 453 | 9118 | 601097 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | PMP22 CL E G H | 5376 | 118300 | Charcot-Marie-Tooth disease and deafness | 118300 | C1861669 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | PMP22 CL E G H | 5376 | 118220 | Charcot-Marie-Tooth disease, type IA | 118220 | C0270911 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | PMP22 CL E G H | 5376 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | PMP22 CL E G H | 5376 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 1 | | 134 | 9171 | 602632 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | POLG CL E G H | 5428 | 157640 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 157640 | C1834846 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | PQBP1 CL E G H | 10084 | 309500 | Renpenning syndrome 1 | 309500 | C0796135 | OMIM | 1 | | 269 | 9330 | 300463 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | PRPS1 CL E G H | 5631 | 99014 | | | | ORPHA | 1 | | 360 | 9462 | 311850 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | PRPS1 CL E G H | 5631 | 311070 | Charcot-Marie-Tooth disease, X-linked recessive, type 5 | 311070 | C1839566 | OMIM | 1 | | 360 | 9462 | 311850 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | PRX CL E G H | 57716 | 614895 | Charcot-Marie-Tooth disease, demyelinating, type 4f | 614895 | C3540453 | OMIM | 1 | | 1079 | 13797 | 605725 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | PRX CL E G H | 57716 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 1079 | 13797 | 605725 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | PYROXD1 CL E G H | 79912 | 617258 | Myopathy, myofibrillar, 8 | 617258 | C4310645 | OMIM | 1 | | 443 | 26162 | 617220 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | RAB11B CL E G H | 9230 | 617807 | NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER | 617807 | C4540498 | OMIM | 1 | | 112 | 9761 | 604198 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | RAB7A CL E G H | 7879 | 600882 | Charcot-Marie-Tooth disease, axonal, type 2b | 600882 | C1833219 | OMIM | 1 | | 176 | 9788 | 602298 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | REEP1 CL E G H | 65055 | 101011 | | | | ORPHA | 1 | | 377 | 25786 | 609139 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | REEP1 CL E G H | 65055 | 614751 | Distal hereditary motor neuronopathy type 5B | 614751 | C3553656 | OMIM | 1 | | 377 | 25786 | 609139 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | REEP2 CL E G H | 51308 | 401849 | | | | ORPHA | 1 | | 76 | 17975 | 609347 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | RET CL E G H | 5979 | 162300 | Multiple endocrine neoplasia, type 2b | 162300 | C0025269 | OMIM | 1 | | 2692 | 9967 | 164761 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | RTN2 CL E G H | 6253 | 604805 | Spastic paraplegia 12 | 604805 | C1858106 | OMIM | 1 | | 184 | 10468 | 603183 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | RUSC2 CL E G H | 9853 | 617773 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 | 617773 | C4540424 | OMIM | 1 | | 584 | 23625 | 611053 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | SACS CL E G H | 26278 | 270550 | Spastic ataxia Charlevoix-Saguenay type | 270550 | C1849140 | OMIM | 1 | | 2506 | 10519 | 604490 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | SBF2 CL E G H | 81846 | 604563 | Charcot-Marie-Tooth disease, type 4B2 | 604563 | C1858278 | OMIM | 1 | | 1226 | 2135 | 607697 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | SETX CL E G H | 23064 | 602433 | Amyotrophic lateral sclerosis type 4 | 602433 | C1865409 | OMIM | 1 | | 1290 | 445 | 608465 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | SH3TC2 CL E G H | 79628 | 601596 | Charcot-Marie-Tooth disease, type 4C | 601596 | C1866636 | OMIM | 1 | | 1483 | 29427 | 608206 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | SIGMAR1 CL E G H | 10280 | 605726 | Distal spinal muscular atrophy, autosomal recessive 2 | 605726 | C1854023 | OMIM | 1 | | 206 | 8157 | 601978 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | SLC25A46 CL E G H | 91137 | 616505 | NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB | 616505 | C4225302 | OMIM | 1 | | 325 | 25198 | 610826 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | SLC33A1 CL E G H | 9197 | 612539 | Spastic paraplegia 42, autosomal dominant | 612539 | C2675528 | OMIM | 1 | | 145 | 95 | 603690 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | SLC5A7 CL E G H | 60482 | 158580 | Neuronopathy, distal hereditary motor, type viia | 158580 | C1834703 | OMIM | 1 | | 375 | 14025 | 608761 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | SLC6A8 CL E G H | 6535 | 300352 | Creatine deficiency, X-linked | 300352 | C1845862 | OMIM | 1 | | 903 | 11055 | 300036 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | SOX10 CL E G H | 6663 | 609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | 609136 | C1836727 | OMIM | 1 | | 302 | 11190 | 602229 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | SPART CL E G H | 23111 | 275900 | Troyer syndrome | 275900 | C0393559 | OMIM | 1 | | 274 | 18514 | 607111 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | SPG11 CL E G H | 80208 | 604360 | Spastic paraplegia 11, autosomal recessive | 604360 | C1858479 | OMIM | 1 | | 2165 | 11226 | 610844 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | SPG7 CL E G H | 6687 | 607259 | Spastic paraplegia 7 | 607259 | C1846564 | OMIM | 1 | | 778 | 11237 | 602783 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | SPTLC1 CL E G H | 10558 | 162400 | Neuropathy hereditary sensory and autonomic type 1 | 162400 | C0020071 | OMIM | 1 | | 331 | 11277 | 605712 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 1 | | 1046 | 11503 | 604297 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | SYT2 CL E G H | 127833 | 616040 | Myasthenic syndrome, congenital, 7, presynaptic | 616040 | C4015038 | OMIM | 1 | | 160 | 11510 | 600104 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | TDP1 CL E G H | 55775 | 94124 | | | | ORPHA | 1 | | 208 | 18884 | 607198 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | TDP1 CL E G H | 55775 | 607250 | Spinocerebellar ataxia autosomal recessive with axonal neuropathy | 607250 | C1846574 | OMIM | 1 | | 208 | 18884 | 607198 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | TH CL E G H | 7054 | 101150 | | | | ORPHA | 1 | | 794 | 11782 | 191290 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | TPM3 CL E G H | 7170 | 609284 | Nemaline myopathy 1 | 609284 | C1836448 | OMIM | 1 | | 300 | 12012 | 191030 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | TRIM2 CL E G H | 23321 | 615490 | Charcot-Marie-Tooth disease, axonal, type 2R | 615490 | C3809655 | OMIM | 1 | | 334 | 15974 | 614141 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | TRPV4 CL E G H | 59341 | 606071 | Charcot-Marie-Tooth disease type 2C | 606071 | C2079540 | OMIM | 1 | | 891 | 18083 | 605427 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 1 | | 309 | 12404 | 600415 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | UCHL1 CL E G H | 7345 | 615491 | Spastic paraplegia 79, autosomal recessive | 615491 | C3809665 | OMIM | 1 | | 111 | 12513 | 191342 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | USP9X CL E G H | 8239 | 300968 | Mental retardation, X-linked 99, syndromic, female-restricted | 300968 | C4225416 | OMIM | 1 | | 568 | 12632 | 300072 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | VAMP1 CL E G H | 6843 | 108600 | Ataxia, spastic, 1, autosomal dominant | 108600 | C1970107 | OMIM | 1 | | 118 | 12642 | 185880 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | VCP CL E G H | 7415 | 435387 | | | | ORPHA | 1 | | 473 | 12666 | 601023 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | VCP CL E G H | 7415 | 616687 | Charcot-Marie-Tooth disease, axonal, type 2y | 616687 | C4225244 | OMIM | 1 | | 473 | 12666 | 601023 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | VPS13A CL E G H | 23230 | 200150 | Choreoacanthocytosis | 200150 | C0393576 | OMIM | 1 | | 1735 | 1908 | 605978 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 390 | 23595 | 608877 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | WASHC5 CL E G H | 9897 | 603563 | Spastic paraplegia 8 | 603563 | C1863704 | OMIM | 1 | | 527 | 28984 | 610657 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | WDR73 CL E G H | 84942 | 251300 | Galloway-Mowat syndrome 1 | 251300 | CN031715 | OMIM | 1 | | 138 | 25928 | 616144 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | ZBTB20 CL E G H | 26137 | 259050 | Primrose syndrome | 259050 | C0796121 | OMIM | 1 | | 168 | 13503 | 606025 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | ZFYVE26 CL E G H | 23503 | 270700 | Spastic paraplegia 15 | 270700 | C1849128 | OMIM | 1 | | 1894 | 20761 | 612012 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | AARS CL E G H | 16 | 613287 | Charcot-Marie-Tooth disease, type 2N | 613287 | C2750090 | OMIM | 1 | | | 20 | 601065 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | ABHD12 CL E G H | 26090 | 612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | 612674 | C2675204 | OMIM | 1 | | 430 | 15868 | 613599 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | AIFM1 CL E G H | 9131 | 101078 | | | | ORPHA | 1 | | 487 | 8768 | 300169 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | ALDH18A1 CL E G H | 5832 | 447753 | | | | ORPHA | 1 | | 437 | 9722 | 138250 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 437 | 9722 | 138250 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | ALS2 CL E G H | 57679 | 607225 | Infantile-onset ascending hereditary spastic paralysis | 607225 | C2931441 | OMIM | 1 | | 754 | 443 | 606352 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | ANO10 CL E G H | 55129 | 284289 | | | | ORPHA | 1 | | 240 | 25519 | 613726 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | ANO10 CL E G H | 55129 | 613728 | Spinocerebellar ataxia, autosomal recessive 10 | 613728 | C3150998 | OMIM | 1 | | 240 | 25519 | 613726 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | ANOS1 CL E G H | 3730 | 308700 | Kallmann syndrome 1 | 308700 | C1563719 | OMIM | 1 | | 426 | 6211 | 300836 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 288 | 15984 | 606350 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | ATL1 CL E G H | 51062 | 613708 | Hereditary sensory neuropathy type 1D | 613708 | C3150972 | OMIM | 1 | | 408 | 11231 | 606439 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | ATL1 CL E G H | 51062 | 182600 | Spastic paraplegia 3 | 182600 | C2931355 | OMIM | 1 | | 408 | 11231 | 606439 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | ATP1A3 CL E G H | 478 | 601338 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss | 601338 | C1832466 | OMIM | 1 | | 790 | 801 | 182350 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | ATP7A CL E G H | 538 | 300489 | Distal spinal muscular atrophy, X-linked 3 | 300489 | C1845359 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | B3GLCT CL E G H | 145173 | 261540 | Peters plus syndrome | 261540 | C0796012 | OMIM | 1 | | 266 | 20207 | 610308 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | B4GALNT1 CL E G H | 2583 | 609195 | Spastic paraplegia 26 | 609195 | C1836632 | OMIM | 1 | | 192 | 4117 | 601873 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | BAG3 CL E G H | 9531 | 612954 | Myofibrillar myopathy, BAG3-related | 612954 | C2751831 | OMIM | 1 | | 856 | 939 | 603883 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | BSCL2 CL E G H | 26580 | 270685 | Spastic paraplegia 17 | 270685 | CN074197 | OMIM | 1 | | 435 | 15832 | 606158 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | C19orf12 CL E G H | 83636 | 320370 | | | | ORPHA | 1 | | 276 | 25443 | 614297 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 276 | 25443 | 614297 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | C19orf12 CL E G H | 83636 | 615043 | Spastic paraplegia 43, autosomal recessive | 615043 | C2680446 | OMIM | 1 | | 276 | 25443 | 614297 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | CAPN1 CL E G H | 823 | 488594 | | | | ORPHA | 1 | | 124 | 1476 | 114220 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | CAV3 CL E G H | 859 | 614321 | Distal myopathy, Tateyama type | 614321 | C3280443 | OMIM | 1 | | 390 | 1529 | 601253 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | CHCHD10 CL E G H | 400916 | 615048 | Spinal muscular atrophy, jokela type | 615048 | C3554398 | OMIM | 1 | | 248 | 15559 | 615903 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | CHMP1A CL E G H | 5119 | 614961 | Pontocerebellar hypoplasia type 8 | 614961 | C3554209 | OMIM | 1 | | 188 | 8740 | 164010 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | COQ8A CL E G H | 56997 | 612016 | Coenzyme Q10 deficiency, primary, 4 | 612016 | C2677589 | OMIM | 1 | | 504 | 16812 | 606980 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | COX6A1 CL E G H | 1337 | 616039 | Charcot-Marie-Tooth disease, recessive intermediate d | 616039 | C4015029 | OMIM | 1 | | 74 | 2277 | 602072 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | CTDP1 CL E G H | 9150 | 604168 | Congenital Cataracts, Facial Dysmorphism, and Neuropathy | 604168 | C1858726 | OMIM | 1 | | 383 | 2498 | 604927 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | CUL4B CL E G H | 8450 | 85293 | | | | ORPHA | 1 | | 347 | 2555 | 300304 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | CUL4B CL E G H | 8450 | 300354 | Syndromic X-linked mental retardation, Cabezas type | 300354 | C1845861 | OMIM | 1 | | 347 | 2555 | 300304 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | CYP7B1 CL E G H | 9420 | 100986 | | | | ORPHA | 1 | | 333 | 2652 | 603711 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | DCAF8 CL E G H | 50717 | 610100 | Giant axonal neuropathy 2, autosomal dominant | 610100 | C1864695 | OMIM | 1 | | 34 | 24891 | 615820 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | DDHD1 CL E G H | 80821 | 101008 | | | | ORPHA | 1 | | 302 | 19714 | 614603 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | DDHD1 CL E G H | 80821 | 609340 | Spastic paraplegia 28, autosomal recessive | 609340 | C1836295 | OMIM | 1 | | 302 | 19714 | 614603 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 1 | | 235 | 15469 | 608375 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | DNM2 CL E G H | 1785 | 606482 | Charcot-Marie-Tooth disease, dominant intermediate B | 606482 | C1847902 | OMIM | 1 | | 885 | 2974 | 602378 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | DYNC1H1 CL E G H | 1778 | 614228 | Charcot-Marie-Tooth disease, axonal, type 2O | 614228 | C3280220 | OMIM | 1 | | 2974 | 2961 | 600112 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | EGR2 CL E G H | 1959 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | ERLIN2 CL E G H | 11160 | 611225 | Spastic paraplegia 18 | 611225 | C2749936 | OMIM | 1 | | 159 | 1356 | 611605 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | EZH2 CL E G H | 2146 | 277590 | Weaver syndrome | 277590 | C0265210 | OMIM | 1 | | 416 | 3527 | 601573 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | FBLN5 CL E G H | 10516 | 608895 | Age-related macular degeneration 3 | 608895 | C1837187 | OMIM | 1 | | 315 | 3602 | 604580 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | FBN1 CL E G H | 2200 | 154700 | Marfan syndrome | 154700 | C0024796 | OMIM | 1 | | 5970 | 3603 | 134797 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | FGD4 CL E G H | 121512 | 609311 | Charcot-Marie-Tooth disease, type 4H | 609311 | C1836336 | OMIM | 1 | | 659 | 19125 | 611104 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | FGF14 CL E G H | 2259 | 98764 | | | | ORPHA | 1 | | 208 | 3671 | 601515 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | FLRT1 CL E G H | 23769 | 320406 | | | | ORPHA | 1 | | 131 | 3760 | 604806 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 1 | | 143 | 3951 | 606829 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | FXN CL E G H | 2395 | 229300 | Friedreich ataxia 1 | 229300 | C1856689 | OMIM | 1 | | 143 | 3951 | 606829 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | GAN CL E G H | 8139 | 643 | | | | ORPHA | 1 | | 661 | 4137 | 605379 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 661 | 4137 | 605379 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | GARS CL E G H | 2617 | 601472 | Charcot-Marie-Tooth disease type 2D | 601472 | C1832274 | OMIM | 1 | | | 4162 | 600287 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | GBA CL E G H | 2629 | 231005 | Gaucher disease type 3C | 231005 | C1856476 | OMIM | 1 | | | 4177 | 606463 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | GBA2 CL E G H | 57704 | 614409 | Spastic paraplegia 46, autosomal recessive | 614409 | C2828721 | OMIM | 1 | | 277 | 18986 | 609471 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | GCH1 CL E G H | 2643 | 98808 | | | | ORPHA | 1 | | 364 | 4193 | 600225 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | GCH1 CL E G H | 2643 | 128230 | Dystonia 5, Dopa-responsive type | 128230 | C1851920 | OMIM | 1 | | 364 | 4193 | 600225 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | GDAP1 CL E G H | 54332 | 607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 607706 | C1843183 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | GDAP1 CL E G H | 54332 | 608340 | Charcot-Marie-Tooth disease, recessive intermediate A | 608340 | C1842197 | OMIM | 1 | | 477 | 15968 | 606598 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | GJB1 CL E G H | 2705 | 101075 | | | | ORPHA | 1 | | 797 | 4283 | 304040 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | GJB1 CL E G H | 2705 | 1175 | CDK4 linked melanoma | | | ORPHA | 1 | | 797 | 4283 | 304040 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | GJB1 CL E G H | 2705 | 302800 | X-linked hereditary motor and sensory neuropathy | 302800 | C0393808 | OMIM | 1 | | 797 | 4283 | 304040 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | GJB2 CL E G H | 2706 | 602540 | Hystrix-like ichthyosis with deafness | 602540 | C1865234 | OMIM | 1 | | 516 | 4284 | 121011 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | GJB2 CL E G H | 2706 | 148210 | Keratitis-ichthyosis-deafness syndrome, autosomal dominant | 148210 | C1835678 | OMIM | 1 | | 516 | 4284 | 121011 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | GJC2 CL E G H | 57165 | 320401 | | | | ORPHA | 1 | | 250 | 17494 | 608803 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | GJC2 CL E G H | 57165 | 613206 | Spastic paraplegia 44, autosomal recessive | 613206 | C2750784 | OMIM | 1 | | 250 | 17494 | 608803 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | GNB4 CL E G H | 59345 | 615185 | Charcot-Marie-Tooth disease, dominant intermediate F | 615185 | C3554654 | OMIM | 1 | | 221 | 20731 | 610863 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | HARS CL E G H | 3035 | 488333 | | | | ORPHA | 1 | | | 4816 | 142810 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | HARS CL E G H | 3035 | 616625 | Charcot-Marie-Tooth disease, axonal, type 2w | 616625 | C4225265 | OMIM | 1 | | | 4816 | 142810 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | HDAC8 CL E G H | 55869 | 3459 | | | | ORPHA | 1 | | 322 | 13315 | 300269 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | HSD17B4 CL E G H | 3295 | 233400 | Perrault syndrome 1 | 233400 | | OMIM | 1 | | 786 | 5213 | 601860 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | HSPB1 CL E G H | 3315 | 606595 | Charcot-Marie-Tooth disease type 2F | 606595 | C1847823 | OMIM | 1 | | 329 | 5246 | 602195 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | HSPB8 CL E G H | 26353 | 608673 | Charcot-Marie-Tooth disease, type 2L | 608673 | C1837552 | OMIM | 1 | | 192 | 30171 | 608014 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | IBA57 CL E G H | 200205 | 468661 | | | | ORPHA | 1 | | 178 | 27302 | 615316 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | IDS CL E G H | 3423 | 309900 | Mucopolysaccharidosis, MPS-II | 309900 | C0026705 | OMIM | 1 | | 768 | 5389 | 300823 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | IDUA CL E G H | 3425 | 607016 | Mucopolysaccharidosis, MPS-I-S | 607016 | C0026708 | OMIM | 1 | | 1313 | 5391 | 252800 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | IFIH1 CL E G H | 64135 | 182250 | Singleton-Merten syndrome 1 | 182250 | C4225427 | OMIM | 1 | | 892 | 18873 | 606951 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | IFRD1 CL E G H | 3475 | 98771 | | | | ORPHA | 1 | | 52 | 5456 | 603502 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | INF2 CL E G H | 64423 | 614455 | Charcot-Marie-Tooth disease, dominant intermediate E | 614455 | C3280845 | OMIM | 1 | | 1150 | 23791 | 610982 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | IQSEC2 CL E G H | 23096 | 217377 | | | | ORPHA | 1 | | 955 | 29059 | 300522 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | KARS CL E G H | 3735 | 613641 | Charcot-Marie-Tooth disease, recessive intermediate B | 613641 | C3150897 | OMIM | 1 | | | 6215 | 601421 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | KIF1B CL E G H | 23095 | 118210 | Charcot-Marie-Tooth disease, type 2A1 | 118210 | C1861678 | OMIM | 1 | | 2041 | 16636 | 605995 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | KIF5A CL E G H | 3798 | 604187 | Spastic paraplegia 10 | 604187 | C1858712 | OMIM | 1 | | 744 | 6323 | 602821 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | KLC2 CL E G H | 64837 | 320406 | | | | ORPHA | 1 | | 61 | 20716 | 611729 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | KLC2 CL E G H | 64837 | 609541 | Spastic paraplegia, optic atrophy, and neuropathy | 609541 | C1836010 | OMIM | 1 | | 61 | 20716 | 611729 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | L1CAM CL E G H | 3897 | 303350 | Spastic paraplegia 1 | 303350 | C0795953 | OMIM | 1 | | 794 | 6470 | 308840 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | LAMP2 CL E G H | 3920 | 300257 | Danon disease | 300257 | C0878677 | OMIM | 1 | | 759 | 6501 | 309060 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | LAS1L CL E G H | 81887 | 3459 | | | | ORPHA | 1 | | 243 | 25726 | 300964 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | LAS1L CL E G H | 81887 | 309585 | Wilson-Turner X-linked mental retardation syndrome | 309585 | C1839736 | OMIM | 1 | | 243 | 25726 | 300964 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | LITAF CL E G H | 9516 | 601098 | Charcot-Marie-Tooth disease, type 1C | 601098 | C0270913 | OMIM | 1 | | 270 | 16841 | 603795 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | LMNA CL E G H | 4000 | 605588 | Charcot-Marie-Tooth disease type 2B1 | 605588 | C1854154 | OMIM | 1 | | 1622 | 6636 | 150330 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | LRSAM1 CL E G H | 90678 | 614436 | Charcot-Marie-Tooth disease type 2P | 614436 | C3280797 | OMIM | 1 | | 707 | 25135 | 610933 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | MAFB CL E G H | 9935 | 166300 | Multicentric osteolysis nephropathy | 166300 | C2674705 | OMIM | 1 | | 119 | 6408 | 608968 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | MECP2 CL E G H | 4204 | 300055 | Mental retardation, X-linked, syndromic 13 | 300055 | C1968550 | OMIM | 1 | | 1778 | 6990 | 300005 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | MFN2 CL E G H | 9927 | 99947 | | | | ORPHA | 1 | | 1063 | 16877 | 608507 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | MFN2 CL E G H | 9927 | 617087 | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | 617087 | C4310725 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | MFN2 CL E G H | 9927 | 609260 | Charcot-Marie-Tooth disease, type 2A2A | 609260 | C1836485 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | MFN2 CL E G H | 9927 | 601152 | Hereditary motor and sensory neuropathy with optic atrophy | 601152 | C0393807 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | MME CL E G H | 4311 | 497764 | | | | ORPHA | 1 | | 422 | 7154 | 120520 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | MME CL E G H | 4311 | 617018 | Spinocerebellar ataxia 43 | 617018 | C4310763 | OMIM | 1 | | 422 | 7154 | 120520 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | MMP2 CL E G H | 4313 | 259600 | Multicentric osteolysis, nodulosis and arthropathy | 259600 | C1850155 | OMIM | 1 | | 271 | 7166 | 120360 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | MORC2 CL E G H | 22880 | 616688 | Charcot-Marie-Tooth disease, axonal, type 2z | 616688 | C4225243 | OMIM | 1 | | 585 | 23573 | 616661 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | MPZ CL E G H | 4359 | 607677 | Charcot-Marie-Tooth disease type 2I | 607677 | C3888087 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | MPZ CL E G H | 4359 | 607736 | Charcot-Marie-Tooth disease type 2J | 607736 | C1843153 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | MPZ CL E G H | 4359 | 118200 | Charcot-Marie-Tooth disease, demyelinating, type 1b | 118200 | C0270912 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | MPZ CL E G H | 4359 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | MPZ CL E G H | 4359 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | MSTO1 CL E G H | 55154 | 502423 | | | | ORPHA | 1 | | 85 | 29678 | 617619 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | MSTO1 CL E G H | 55154 | 617675 | MYOPATHY, MITOCHONDRIAL, AND ATAXIA | 617675 | C4540096 | OMIM | 1 | | 85 | 29678 | 617619 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | MYH7 CL E G H | 4625 | 437572 | | | | ORPHA | 1 | | 3612 | 7577 | 160760 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | MYH7 CL E G H | 4625 | 160500 | Myopathy, distal, 1 | 160500 | CN074249 | OMIM | 1 | | 3612 | 7577 | 160760 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | NEFH CL E G H | 4744 | 616924 | Charcot-Marie-Tooth disease, axonal, type 2CC | 616924 | C4310790 | OMIM | 1 | | 465 | 7737 | 162230 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | NEFL CL E G H | 4747 | 607684 | Charcot-Marie-Tooth disease type 2E | 607684 | C1843225 | OMIM | 1 | | 543 | 7739 | 162280 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | NEFL CL E G H | 4747 | 607734 | Charcot-Marie-Tooth disease, demyelinating, type 1f | 607734 | C1843164 | OMIM | 1 | | 543 | 7739 | 162280 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | NEFL CL E G H | 4747 | 617882 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G | 617882 | CN847583 | OMIM | 1 | | 543 | 7739 | 162280 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | NIPA1 CL E G H | 123606 | 100988 | | | | ORPHA | 1 | | 576 | 17043 | 608145 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | NIPA1 CL E G H | 123606 | 600363 | Spastic paraplegia 6 | 600363 | C1838192 | OMIM | 1 | | 576 | 17043 | 608145 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | PCNA CL E G H | 5111 | 615919 | Ataxia-telangiectasia-like disorder 2 | 615919 | C4014676 | OMIM | 1 | | 41 | 8729 | 176740 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | PDK3 CL E G H | 5165 | 300905 | Charcot-Marie-Tooth disease, X-linked dominant, 6 | 300905 | C3806702 | OMIM | 1 | | 294 | 8811 | 300906 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | PEX5 CL E G H | 5830 | 616716 | Rhizomelic chondrodysplasia punctata type 5 | 616716 | C4225237 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | PEX7 CL E G H | 5191 | 614879 | Peroxisome biogenesis disorder 9B | 614879 | CN159238 | OMIM | 1 | | 441 | 8860 | 601757 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | PEX7 CL E G H | 5191 | 266500 | Phytanic acid storage disease | 266500 | C0034960 | OMIM | 1 | | 441 | 8860 | 601757 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | PHYH CL E G H | 5264 | 266500 | Phytanic acid storage disease | 266500 | C0034960 | OMIM | 1 | | 303 | 8940 | 602026 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | PLEKHG5 CL E G H | 57449 | 615376 | Charcot-Marie-Tooth disease, recessive intermediate c | 615376 | C3809309 | OMIM | 1 | | 934 | 29105 | 611101 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | PLP1 CL E G H | 5354 | 312920 | Spastic paraplegia 2 | 312920 | C1839264 | OMIM | 1 | | 391 | 9086 | 300401 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | PMP2 CL E G H | 5375 | 618279 | 618279 | 618279 | | OMIM | 1 | | 96 | 9117 | 170715 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | PMP22 CL E G H | 5376 | 101081 | | | | ORPHA | 1 | | 453 | 9118 | 601097 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | PMP22 CL E G H | 5376 | 118300 | Charcot-Marie-Tooth disease and deafness | 118300 | C1861669 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | PMP22 CL E G H | 5376 | 118220 | Charcot-Marie-Tooth disease, type IA | 118220 | C0270911 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | PMP22 CL E G H | 5376 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | PMP22 CL E G H | 5376 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 1 | | 134 | 9171 | 602632 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | POLG CL E G H | 5428 | 157640 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 157640 | C1834846 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | PQBP1 CL E G H | 10084 | 309500 | Renpenning syndrome 1 | 309500 | C0796135 | OMIM | 1 | | 269 | 9330 | 300463 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | PRPS1 CL E G H | 5631 | 99014 | | | | ORPHA | 1 | | 360 | 9462 | 311850 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | PRPS1 CL E G H | 5631 | 311070 | Charcot-Marie-Tooth disease, X-linked recessive, type 5 | 311070 | C1839566 | OMIM | 1 | | 360 | 9462 | 311850 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | PRX CL E G H | 57716 | 614895 | Charcot-Marie-Tooth disease, demyelinating, type 4f | 614895 | C3540453 | OMIM | 1 | | 1079 | 13797 | 605725 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | PRX CL E G H | 57716 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 1079 | 13797 | 605725 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | PYROXD1 CL E G H | 79912 | 617258 | Myopathy, myofibrillar, 8 | 617258 | C4310645 | OMIM | 1 | | 443 | 26162 | 617220 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | RAB11B CL E G H | 9230 | 617807 | NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER | 617807 | C4540498 | OMIM | 1 | | 112 | 9761 | 604198 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | RAB7A CL E G H | 7879 | 600882 | Charcot-Marie-Tooth disease, axonal, type 2b | 600882 | C1833219 | OMIM | 1 | | 176 | 9788 | 602298 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | REEP1 CL E G H | 65055 | 101011 | | | | ORPHA | 1 | | 377 | 25786 | 609139 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | REEP1 CL E G H | 65055 | 614751 | Distal hereditary motor neuronopathy type 5B | 614751 | C3553656 | OMIM | 1 | | 377 | 25786 | 609139 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | REEP2 CL E G H | 51308 | 401849 | | | | ORPHA | 1 | | 76 | 17975 | 609347 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | RET CL E G H | 5979 | 162300 | Multiple endocrine neoplasia, type 2b | 162300 | C0025269 | OMIM | 1 | | 2692 | 9967 | 164761 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | RTN2 CL E G H | 6253 | 604805 | Spastic paraplegia 12 | 604805 | C1858106 | OMIM | 1 | | 184 | 10468 | 603183 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | RUSC2 CL E G H | 9853 | 617773 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 | 617773 | C4540424 | OMIM | 1 | | 584 | 23625 | 611053 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | SACS CL E G H | 26278 | 270550 | Spastic ataxia Charlevoix-Saguenay type | 270550 | C1849140 | OMIM | 1 | | 2506 | 10519 | 604490 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | SBF2 CL E G H | 81846 | 604563 | Charcot-Marie-Tooth disease, type 4B2 | 604563 | C1858278 | OMIM | 1 | | 1226 | 2135 | 607697 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | SETX CL E G H | 23064 | 602433 | Amyotrophic lateral sclerosis type 4 | 602433 | C1865409 | OMIM | 1 | | 1290 | 445 | 608465 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | SH3TC2 CL E G H | 79628 | 601596 | Charcot-Marie-Tooth disease, type 4C | 601596 | C1866636 | OMIM | 1 | | 1483 | 29427 | 608206 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | SIGMAR1 CL E G H | 10280 | 605726 | Distal spinal muscular atrophy, autosomal recessive 2 | 605726 | C1854023 | OMIM | 1 | | 206 | 8157 | 601978 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | SLC25A46 CL E G H | 91137 | 616505 | NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB | 616505 | C4225302 | OMIM | 1 | | 325 | 25198 | 610826 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | SLC33A1 CL E G H | 9197 | 612539 | Spastic paraplegia 42, autosomal dominant | 612539 | C2675528 | OMIM | 1 | | 145 | 95 | 603690 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | SLC5A7 CL E G H | 60482 | 158580 | Neuronopathy, distal hereditary motor, type viia | 158580 | C1834703 | OMIM | 1 | | 375 | 14025 | 608761 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | SLC6A8 CL E G H | 6535 | 300352 | Creatine deficiency, X-linked | 300352 | C1845862 | OMIM | 1 | | 903 | 11055 | 300036 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | SOX10 CL E G H | 6663 | 609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | 609136 | C1836727 | OMIM | 1 | | 302 | 11190 | 602229 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | SPART CL E G H | 23111 | 275900 | Troyer syndrome | 275900 | C0393559 | OMIM | 1 | | 274 | 18514 | 607111 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | SPG11 CL E G H | 80208 | 604360 | Spastic paraplegia 11, autosomal recessive | 604360 | C1858479 | OMIM | 1 | | 2165 | 11226 | 610844 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | SPG7 CL E G H | 6687 | 607259 | Spastic paraplegia 7 | 607259 | C1846564 | OMIM | 1 | | 778 | 11237 | 602783 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | SPTLC1 CL E G H | 10558 | 162400 | Neuropathy hereditary sensory and autonomic type 1 | 162400 | C0020071 | OMIM | 1 | | 331 | 11277 | 605712 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 1 | | 1046 | 11503 | 604297 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | SYT2 CL E G H | 127833 | 616040 | Myasthenic syndrome, congenital, 7, presynaptic | 616040 | C4015038 | OMIM | 1 | | 160 | 11510 | 600104 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | TDP1 CL E G H | 55775 | 94124 | | | | ORPHA | 1 | | 208 | 18884 | 607198 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | TDP1 CL E G H | 55775 | 607250 | Spinocerebellar ataxia autosomal recessive with axonal neuropathy | 607250 | C1846574 | OMIM | 1 | | 208 | 18884 | 607198 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | TH CL E G H | 7054 | 101150 | | | | ORPHA | 1 | | 794 | 11782 | 191290 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | TPM3 CL E G H | 7170 | 609284 | Nemaline myopathy 1 | 609284 | C1836448 | OMIM | 1 | | 300 | 12012 | 191030 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | TRIM2 CL E G H | 23321 | 615490 | Charcot-Marie-Tooth disease, axonal, type 2R | 615490 | C3809655 | OMIM | 1 | | 334 | 15974 | 614141 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | TRPV4 CL E G H | 59341 | 606071 | Charcot-Marie-Tooth disease type 2C | 606071 | C2079540 | OMIM | 1 | | 891 | 18083 | 605427 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | TTPA CL E G H | 7274 | 96 | | | | ORPHA | 1 | | 309 | 12404 | 600415 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | UCHL1 CL E G H | 7345 | 615491 | Spastic paraplegia 79, autosomal recessive | 615491 | C3809665 | OMIM | 1 | | 111 | 12513 | 191342 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | USP9X CL E G H | 8239 | 300968 | Mental retardation, X-linked 99, syndromic, female-restricted | 300968 | C4225416 | OMIM | 1 | | 568 | 12632 | 300072 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | VAMP1 CL E G H | 6843 | 108600 | Ataxia, spastic, 1, autosomal dominant | 108600 | C1970107 | OMIM | 1 | | 118 | 12642 | 185880 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | VCP CL E G H | 7415 | 435387 | | | | ORPHA | 1 | | 473 | 12666 | 601023 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | VCP CL E G H | 7415 | 616687 | Charcot-Marie-Tooth disease, axonal, type 2y | 616687 | C4225244 | OMIM | 1 | | 473 | 12666 | 601023 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | VPS13A CL E G H | 23230 | 200150 | Choreoacanthocytosis | 200150 | C0393576 | OMIM | 1 | | 1735 | 1908 | 605978 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 390 | 23595 | 608877 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | WASHC5 CL E G H | 9897 | 603563 | Spastic paraplegia 8 | 603563 | C1863704 | OMIM | 1 | | 527 | 28984 | 610657 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | WDR73 CL E G H | 84942 | 251300 | Galloway-Mowat syndrome 1 | 251300 | CN031715 | OMIM | 1 | | 138 | 25928 | 616144 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | ZBTB20 CL E G H | 26137 | 259050 | Primrose syndrome | 259050 | C0796121 | OMIM | 1 | | 168 | 13503 | 606025 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | ZFYVE26 CL E G H | 23503 | 270700 | Spastic paraplegia 15 | 270700 | C1849128 | OMIM | 1 | | 1894 | 20761 | 612012 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001761 | HP:0001761 | Pes cavus | 0 | AAAS CL E G H | 8086 | 869 | | | | ORPHA | 0 | | 187 | 13666 | 605378 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | ACTA1 CL E G H | 58 | 171439 | | | | ORPHA | 0 | | 392 | 129 | 102610 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | AGRN CL E G H | 375790 | 98914 | | | | ORPHA | 0 | | 1782 | 329 | 103320 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | ANOS1 CL E G H | 3730 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 426 | 6211 | 300836 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | ATP13A2 CL E G H | 23400 | 617225 | Spastic paraplegia 78, autosomal recessive | 617225 | C4310662 | OMIM | 0 | | 738 | 30213 | 610513 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | ATP1A3 CL E G H | 478 | 1171 | | | | ORPHA | 0 | | 790 | 801 | 182350 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | ATP6V1B2 CL E G H | 526 | 3473 | Meningoencephalocele | | | ORPHA | 0 | | 129 | 854 | 606939 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | B4GALNT1 CL E G H | 2583 | 101006 | | | | ORPHA | 0 | | 192 | 4117 | 601873 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | BIN1 CL E G H | 274 | 169186 | | | | ORPHA | 0 | | 552 | 1052 | 601248 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | BIN1 CL E G H | 274 | 255200 | Autosomal recessive centronuclear myopathy | 255200 | C0410204 | OMIM | 0 | | 552 | 1052 | 601248 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | BSCL2 CL E G H | 26580 | 139536 | | | | ORPHA | 0 | | 435 | 15832 | 606158 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | BSCL2 CL E G H | 26580 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 0 | | 435 | 15832 | 606158 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | CAPN1 CL E G H | 823 | 616907 | Spastic paraplegia 76, autosomal recessive | 616907 | C4310800 | OMIM | 0 | | 124 | 1476 | 114220 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | CCDC141 CL E G H | 285025 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 179 | 26821 | 616031 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | CHAT CL E G H | 1103 | 98914 | | | | ORPHA | 0 | | 771 | 1912 | 118490 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | CHD7 CL E G H | 55636 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 2318 | 20626 | 608892 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 0 | | 175 | 29932 | 609855 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | COL13A1 CL E G H | 1305 | 98914 | | | | ORPHA | 0 | | 397 | 2190 | 120350 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | COL13A1 CL E G H | 1305 | 616720 | Myasthenic syndrome, congenital, 19 | 616720 | C4225235 | OMIM | 0 | | 397 | 2190 | 120350 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | CYP7B1 CL E G H | 9420 | 270800 | Spastic paraplegia 5A | 270800 | C1849115 | OMIM | 0 | | 333 | 2652 | 603711 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | DCC CL E G H | 1630 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 175 | 2701 | 120470 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | DHH CL E G H | 50846 | 168563 | | | | ORPHA | 0 | | 88 | 2865 | 605423 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | DNAJB2 CL E G H | 3300 | 614881 | Spinal muscular atrophy, distal, autosomal recessive, 5 | 614881 | C3553989 | OMIM | 0 | | 253 | 5228 | 604139 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | DUSP6 CL E G H | 1848 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 51 | 3072 | 602748 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | EED CL E G H | 8726 | 3447 | | | | ORPHA | 0 | | 97 | 3188 | 605984 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | ERCC5 CL E G H | 2073 | 278780 | Xeroderma pigmentosum, group G | 278780 | C0268141 | OMIM | 0 | | 425 | 3437 | 133530 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | EZH2 CL E G H | 2146 | 3447 | | | | ORPHA | 0 | | 416 | 3527 | 601573 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | FBXO38 CL E G H | 81545 | 615575 | Distal hereditary motor neuronopathy 2D | 615575 | C3711384 | OMIM | 0 | | 461 | 28844 | 608533 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | FEZF1 CL E G H | 389549 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 77 | 22788 | 613301 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | FGF14 CL E G H | 2259 | 609307 | Spinocerebellar ataxia 27 | 609307 | C1836383 | OMIM | 0 | | 208 | 3671 | 601515 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | FGF17 CL E G H | 8822 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 100 | 3673 | 603725 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | FGF8 CL E G H | 2253 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 77 | 3686 | 600483 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | FGFR1 CL E G H | 2260 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 688 | 3688 | 136350 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | FLRT3 CL E G H | 23767 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 54 | 3762 | 604808 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | GARS CL E G H | 2617 | 139536 | | | | ORPHA | 0 | | | 4162 | 600287 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | GARS CL E G H | 2617 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 0 | | | 4162 | 600287 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | GBA2 CL E G H | 57704 | 320391 | | | | ORPHA | 0 | | 277 | 18986 | 609471 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | GBA2 CL E G H | 57704 | 352641 | | | | ORPHA | 0 | | 277 | 18986 | 609471 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | GMPPA CL E G H | 29926 | 869 | | | | ORPHA | 0 | | 118 | 22923 | 615495 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | GTF2E2 CL E G H | 2961 | 616943 | Trichothiodystrophy 6, nonphotosensitive | 616943 | C4310785 | OMIM | 0 | | 141 | 4651 | 189964 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | HADHA CL E G H | 3030 | 746 | Apert like polydactyly syndrome | | | ORPHA | 0 | | 630 | 4801 | 600890 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | HADHB CL E G H | 3032 | 746 | Apert like polydactyly syndrome | | | ORPHA | 0 | | 263 | 4803 | 143450 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | HESX1 CL E G H | 8820 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 76 | 4877 | 601802 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | HINT1 CL E G H | 3094 | 324442 | | | | ORPHA | 0 | | 130 | 4912 | 601314 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | HS6ST1 CL E G H | 9394 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 85 | 5201 | 604846 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | HSPD1 CL E G H | 3329 | 100994 | | | | ORPHA | 0 | | 207 | 5261 | 118190 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | IL17RD CL E G H | 54756 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 110 | 17616 | 606807 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | KBTBD13 CL E G H | 390594 | 171439 | | | | ORPHA | 0 | | 431 | 37227 | 613727 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | KCNH1 CL E G H | 3756 | 3473 | Meningoencephalocele | | | ORPHA | 0 | | 413 | 6250 | 603305 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | KISS1R CL E G H | 84634 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 119 | 4510 | 604161 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | KLHL41 CL E G H | 10324 | 171439 | | | | ORPHA | 0 | | 220 | 16905 | 607701 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | LBR CL E G H | 3930 | 169400 | Pelger-Huët anomaly | 169400 | C0030779 | OMIM | 0 | | 285 | 6518 | 600024 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | MRE11 CL E G H | 4361 | 251347 | | | | ORPHA | 0 | | 1729 | 7230 | 600814 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | MYO9A CL E G H | 4649 | 98914 | | | | ORPHA | 0 | | 172 | 7608 | 604875 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | MYPN CL E G H | 84665 | 171439 | | | | ORPHA | 0 | | 1263 | 23246 | 608517 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | MYPN CL E G H | 84665 | 617336 | Nemaline myopathy 11, autosomal recessive | 617336 | C4479186 | OMIM | 0 | | 1263 | 23246 | 608517 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | NEB CL E G H | 4703 | 171439 | | | | ORPHA | 0 | | 6444 | 7720 | 161650 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | NLRP3 CL E G H | 114548 | 575 | Aicardi Goutieres syndrome | | C0393591 | ORPHA | 0 | | 752 | 16400 | 606416 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | NSD1 CL E G H | 64324 | 3447 | | | | ORPHA | 0 | | 1390 | 14234 | 606681 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | NSMF CL E G H | 26012 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 145 | 29843 | 608137 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | NSUN2 CL E G H | 54888 | 611091 | Mental retardation, autosomal recessive 5 | 611091 | C1970199 | OMIM | 0 | | 443 | 25994 | 610916 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | OPA3 CL E G H | 80207 | 67036 | | | | ORPHA | 0 | | 448 | 8142 | 606580 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | PEX10 CL E G H | 5192 | 247815 | | | | ORPHA | 0 | | 654 | 8851 | 602859 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | PEX10 CL E G H | 5192 | 614871 | Peroxisome biogenesis disorder 6B | 614871 | C3553948 | OMIM | 0 | | 654 | 8851 | 602859 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | PEX2 CL E G H | 5828 | 614867 | Peroxisome biogenesis disorder 5B | 614867 | C3542026 | OMIM | 0 | | 366 | 9717 | 170993 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | PEX7 CL E G H | 5191 | 773 | | | | ORPHA | 0 | | 441 | 8860 | 601757 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | PHYH CL E G H | 5264 | 773 | | | | ORPHA | 0 | | 303 | 8940 | 602026 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | PIGN CL E G H | 23556 | 280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | | CN228166 | ORPHA | 0 | | 857 | 8967 | 606097 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | PMP22 CL E G H | 5376 | 640 | | | | ORPHA | 0 | | 453 | 9118 | 601097 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | PMPCA CL E G H | 23203 | 213200 | Spinocerebellar ataxia, autosomal recessive 2 | 213200 | C1859298 | OMIM | 0 | | 140 | 18667 | 613036 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | PROK2 CL E G H | 60675 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 55 | 18455 | 607002 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | PROKR2 CL E G H | 128674 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 132 | 15836 | 607123 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | REEP1 CL E G H | 65055 | 139536 | | | | ORPHA | 0 | | 377 | 25786 | 609139 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | REEP1 CL E G H | 65055 | 610250 | Spastic paraplegia 31, autosomal dominant | 610250 | C1853247 | OMIM | 0 | | 377 | 25786 | 609139 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | REEP2 CL E G H | 51308 | 615625 | Spastic paraplegia 72, autosomal recessive | 615625 | C3810160 | OMIM | 0 | | 76 | 17975 | 609347 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | RYR1 CL E G H | 6261 | 169186 | | | | ORPHA | 0 | | 5062 | 10483 | 180901 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | SEMA3A CL E G H | 10371 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 169 | 10723 | 603961 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | SETX CL E G H | 23064 | 357043 | | | | ORPHA | 0 | | 1290 | 445 | 608465 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | SETX CL E G H | 23064 | 606002 | Spinocerebellar ataxia autosomal recessive 1 | 606002 | C1853761 | OMIM | 0 | | 1290 | 445 | 608465 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | SIN3A CL E G H | 25942 | 94065 | | | | ORPHA | 0 | | 218 | 19353 | 607776 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | SLC18A3 CL E G H | 6572 | 98914 | | | | ORPHA | 0 | | 215 | 10936 | 600336 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | SLC25A1 CL E G H | 6576 | 98914 | | | | ORPHA | 0 | | 505 | 10979 | 190315 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | SLC5A7 CL E G H | 60482 | 98914 | | | | ORPHA | 0 | | 375 | 14025 | 608761 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | SNAP25 CL E G H | 6616 | 98914 | | | | ORPHA | 0 | | 191 | 11132 | 600322 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | SOX10 CL E G H | 6663 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 302 | 11190 | 602229 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | SPART CL E G H | 23111 | 101000 | | | | ORPHA | 0 | | 274 | 18514 | 607111 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | SPAST CL E G H | 6683 | 100985 | | | | ORPHA | 0 | | 1014 | 11233 | 604277 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | SPEG CL E G H | 10290 | 169186 | | | | ORPHA | 0 | | 907 | 16901 | 615950 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | SPG11 CL E G H | 80208 | 616668 | Charcot-Marie-Tooth disease, axonal type 2X | 616668 | C4225253 | OMIM | 0 | | 2165 | 11226 | 610844 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | SPG7 CL E G H | 6687 | 99013 | | | | ORPHA | 0 | | 778 | 11237 | 602783 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | SPRY4 CL E G H | 81848 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 45 | 15533 | 607984 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | SUZ12 CL E G H | 23512 | 3447 | | | | ORPHA | 0 | | 103 | 17101 | 606245 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | SYT2 CL E G H | 127833 | 98914 | | | | ORPHA | 0 | | 160 | 11510 | 600104 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | TACR3 CL E G H | 6870 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 111 | 11528 | 162332 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | TPM2 CL E G H | 7169 | 171439 | | | | ORPHA | 0 | | 280 | 12011 | 190990 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | TPM3 CL E G H | 7170 | 171439 | | | | ORPHA | 0 | | 300 | 12012 | 191030 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | TRAPPC11 CL E G H | 60684 | 869 | | | | ORPHA | 0 | | 774 | 25751 | 614138 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | TTN CL E G H | 7273 | 169186 | | | | ORPHA | 0 | | 22859 | 12403 | 188840 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | TWNK CL E G H | 56652 | 616138 | Perrault syndrome 5 | 616138 | C4015307 | OMIM | 0 | | 308 | 1160 | 606075 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | VAMP1 CL E G H | 6843 | 98914 | | | | ORPHA | 0 | | 118 | 12642 | 185880 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | VAMP1 CL E G H | 6843 | 251282 | | | | ORPHA | 0 | | 118 | 12642 | 185880 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | WDR11 CL E G H | 55717 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 293 | 13831 | 606417 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | XRCC4 CL E G H | 7518 | 616541 | Short stature, microcephaly, and endocrine dysfunction | 616541 | C4225288 | OMIM | 0 | | 86 | 12831 | 194363 |
HP:0001761 | HP:0001761 | Pes cavus | 0 | ZFYVE26 CL E G H | 23503 | 100996 | | | | ORPHA | 0 | | 1894 | 20761 | 612012 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | AAAS CL E G H | 8086 | 869 | | | | ORPHA | 0 | | 187 | 13666 | 605378 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | ACTA1 CL E G H | 58 | 171439 | | | | ORPHA | 0 | | 392 | 129 | 102610 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | AGRN CL E G H | 375790 | 98914 | | | | ORPHA | 0 | | 1782 | 329 | 103320 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | ANOS1 CL E G H | 3730 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 426 | 6211 | 300836 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | ATP13A2 CL E G H | 23400 | 617225 | Spastic paraplegia 78, autosomal recessive | 617225 | C4310662 | OMIM | 0 | | 738 | 30213 | 610513 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | ATP1A3 CL E G H | 478 | 1171 | | | | ORPHA | 0 | | 790 | 801 | 182350 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | ATP6V1B2 CL E G H | 526 | 3473 | Meningoencephalocele | | | ORPHA | 0 | | 129 | 854 | 606939 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | B4GALNT1 CL E G H | 2583 | 101006 | | | | ORPHA | 0 | | 192 | 4117 | 601873 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | BIN1 CL E G H | 274 | 169186 | | | | ORPHA | 0 | | 552 | 1052 | 601248 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | BIN1 CL E G H | 274 | 255200 | Autosomal recessive centronuclear myopathy | 255200 | C0410204 | OMIM | 0 | | 552 | 1052 | 601248 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | BSCL2 CL E G H | 26580 | 139536 | | | | ORPHA | 0 | | 435 | 15832 | 606158 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | BSCL2 CL E G H | 26580 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 0 | | 435 | 15832 | 606158 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | CAPN1 CL E G H | 823 | 616907 | Spastic paraplegia 76, autosomal recessive | 616907 | C4310800 | OMIM | 0 | | 124 | 1476 | 114220 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | CCDC141 CL E G H | 285025 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 179 | 26821 | 616031 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | CHAT CL E G H | 1103 | 98914 | | | | ORPHA | 0 | | 771 | 1912 | 118490 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | CHD7 CL E G H | 55636 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 2318 | 20626 | 608892 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | COASY CL E G H | 80347 | 615643 | Neurodegeneration with brain iron accumulation 6 | 615643 | C3810230 | OMIM | 0 | | 175 | 29932 | 609855 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | COL13A1 CL E G H | 1305 | 98914 | | | | ORPHA | 0 | | 397 | 2190 | 120350 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | COL13A1 CL E G H | 1305 | 616720 | Myasthenic syndrome, congenital, 19 | 616720 | C4225235 | OMIM | 0 | | 397 | 2190 | 120350 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | CYP7B1 CL E G H | 9420 | 270800 | Spastic paraplegia 5A | 270800 | C1849115 | OMIM | 0 | | 333 | 2652 | 603711 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | DCC CL E G H | 1630 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 175 | 2701 | 120470 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | DHH CL E G H | 50846 | 168563 | | | | ORPHA | 0 | | 88 | 2865 | 605423 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | DNAJB2 CL E G H | 3300 | 614881 | Spinal muscular atrophy, distal, autosomal recessive, 5 | 614881 | C3553989 | OMIM | 0 | | 253 | 5228 | 604139 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | DUSP6 CL E G H | 1848 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 51 | 3072 | 602748 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | EED CL E G H | 8726 | 3447 | | | | ORPHA | 0 | | 97 | 3188 | 605984 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | ERCC5 CL E G H | 2073 | 278780 | Xeroderma pigmentosum, group G | 278780 | C0268141 | OMIM | 0 | | 425 | 3437 | 133530 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | EZH2 CL E G H | 2146 | 3447 | | | | ORPHA | 0 | | 416 | 3527 | 601573 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | FBXO38 CL E G H | 81545 | 615575 | Distal hereditary motor neuronopathy 2D | 615575 | C3711384 | OMIM | 0 | | 461 | 28844 | 608533 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | FEZF1 CL E G H | 389549 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 77 | 22788 | 613301 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | FGF14 CL E G H | 2259 | 609307 | Spinocerebellar ataxia 27 | 609307 | C1836383 | OMIM | 0 | | 208 | 3671 | 601515 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | FGF17 CL E G H | 8822 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 100 | 3673 | 603725 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | FGF8 CL E G H | 2253 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 77 | 3686 | 600483 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | FGFR1 CL E G H | 2260 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 688 | 3688 | 136350 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | FLRT3 CL E G H | 23767 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 54 | 3762 | 604808 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | GARS CL E G H | 2617 | 139536 | | | | ORPHA | 0 | | | 4162 | 600287 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | GARS CL E G H | 2617 | 600794 | Distal hereditary motor neuronopathy type 5 | 600794 | C1833308 | OMIM | 0 | | | 4162 | 600287 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | GBA2 CL E G H | 57704 | 352641 | | | | ORPHA | 0 | | 277 | 18986 | 609471 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | GBA2 CL E G H | 57704 | 320391 | | | | ORPHA | 0 | | 277 | 18986 | 609471 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | GMPPA CL E G H | 29926 | 869 | | | | ORPHA | 0 | | 118 | 22923 | 615495 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | GTF2E2 CL E G H | 2961 | 616943 | Trichothiodystrophy 6, nonphotosensitive | 616943 | C4310785 | OMIM | 0 | | 141 | 4651 | 189964 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | HADHA CL E G H | 3030 | 746 | Apert like polydactyly syndrome | | | ORPHA | 0 | | 630 | 4801 | 600890 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | HADHB CL E G H | 3032 | 746 | Apert like polydactyly syndrome | | | ORPHA | 0 | | 263 | 4803 | 143450 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | HESX1 CL E G H | 8820 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 76 | 4877 | 601802 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | HINT1 CL E G H | 3094 | 324442 | | | | ORPHA | 0 | | 130 | 4912 | 601314 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | HS6ST1 CL E G H | 9394 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 85 | 5201 | 604846 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | HSPD1 CL E G H | 3329 | 100994 | | | | ORPHA | 0 | | 207 | 5261 | 118190 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | IL17RD CL E G H | 54756 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 110 | 17616 | 606807 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | KBTBD13 CL E G H | 390594 | 171439 | | | | ORPHA | 0 | | 431 | 37227 | 613727 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | KCNH1 CL E G H | 3756 | 3473 | Meningoencephalocele | | | ORPHA | 0 | | 413 | 6250 | 603305 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | KISS1R CL E G H | 84634 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 119 | 4510 | 604161 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | KLHL41 CL E G H | 10324 | 171439 | | | | ORPHA | 0 | | 220 | 16905 | 607701 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | LBR CL E G H | 3930 | 169400 | Pelger-Huët anomaly | 169400 | C0030779 | OMIM | 0 | | 285 | 6518 | 600024 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | MRE11 CL E G H | 4361 | 251347 | | | | ORPHA | 0 | | 1729 | 7230 | 600814 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | MYO9A CL E G H | 4649 | 98914 | | | | ORPHA | 0 | | 172 | 7608 | 604875 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | MYPN CL E G H | 84665 | 171439 | | | | ORPHA | 0 | | 1263 | 23246 | 608517 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | MYPN CL E G H | 84665 | 617336 | Nemaline myopathy 11, autosomal recessive | 617336 | C4479186 | OMIM | 0 | | 1263 | 23246 | 608517 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | NEB CL E G H | 4703 | 171439 | | | | ORPHA | 0 | | 6444 | 7720 | 161650 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | NLRP3 CL E G H | 114548 | 575 | Aicardi Goutieres syndrome | | C0393591 | ORPHA | 0 | | 752 | 16400 | 606416 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | NSD1 CL E G H | 64324 | 3447 | | | | ORPHA | 0 | | 1390 | 14234 | 606681 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | NSMF CL E G H | 26012 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 145 | 29843 | 608137 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | NSUN2 CL E G H | 54888 | 611091 | Mental retardation, autosomal recessive 5 | 611091 | C1970199 | OMIM | 0 | | 443 | 25994 | 610916 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | OPA3 CL E G H | 80207 | 67036 | | | | ORPHA | 0 | | 448 | 8142 | 606580 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | PEX10 CL E G H | 5192 | 247815 | | | | ORPHA | 0 | | 654 | 8851 | 602859 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | PEX10 CL E G H | 5192 | 614871 | Peroxisome biogenesis disorder 6B | 614871 | C3553948 | OMIM | 0 | | 654 | 8851 | 602859 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | PEX2 CL E G H | 5828 | 614867 | Peroxisome biogenesis disorder 5B | 614867 | C3542026 | OMIM | 0 | | 366 | 9717 | 170993 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | PEX7 CL E G H | 5191 | 773 | | | | ORPHA | 0 | | 441 | 8860 | 601757 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | PHYH CL E G H | 5264 | 773 | | | | ORPHA | 0 | | 303 | 8940 | 602026 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | PIGN CL E G H | 23556 | 280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | | CN228166 | ORPHA | 0 | | 857 | 8967 | 606097 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | PMP22 CL E G H | 5376 | 640 | | | | ORPHA | 0 | | 453 | 9118 | 601097 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | PMPCA CL E G H | 23203 | 213200 | Spinocerebellar ataxia, autosomal recessive 2 | 213200 | C1859298 | OMIM | 0 | | 140 | 18667 | 613036 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | PROK2 CL E G H | 60675 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 55 | 18455 | 607002 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | PROKR2 CL E G H | 128674 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 132 | 15836 | 607123 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | REEP1 CL E G H | 65055 | 139536 | | | | ORPHA | 0 | | 377 | 25786 | 609139 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | REEP1 CL E G H | 65055 | 610250 | Spastic paraplegia 31, autosomal dominant | 610250 | C1853247 | OMIM | 0 | | 377 | 25786 | 609139 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | REEP2 CL E G H | 51308 | 615625 | Spastic paraplegia 72, autosomal recessive | 615625 | C3810160 | OMIM | 0 | | 76 | 17975 | 609347 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | RYR1 CL E G H | 6261 | 169186 | | | | ORPHA | 0 | | 5062 | 10483 | 180901 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | SEMA3A CL E G H | 10371 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 169 | 10723 | 603961 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | SETX CL E G H | 23064 | 357043 | | | | ORPHA | 0 | | 1290 | 445 | 608465 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | SETX CL E G H | 23064 | 606002 | Spinocerebellar ataxia autosomal recessive 1 | 606002 | C1853761 | OMIM | 0 | | 1290 | 445 | 608465 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | SIN3A CL E G H | 25942 | 94065 | | | | ORPHA | 0 | | 218 | 19353 | 607776 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | SLC18A3 CL E G H | 6572 | 98914 | | | | ORPHA | 0 | | 215 | 10936 | 600336 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | SLC25A1 CL E G H | 6576 | 98914 | | | | ORPHA | 0 | | 505 | 10979 | 190315 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | SLC5A7 CL E G H | 60482 | 98914 | | | | ORPHA | 0 | | 375 | 14025 | 608761 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | SNAP25 CL E G H | 6616 | 98914 | | | | ORPHA | 0 | | 191 | 11132 | 600322 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | SOX10 CL E G H | 6663 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 302 | 11190 | 602229 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | SPART CL E G H | 23111 | 101000 | | | | ORPHA | 0 | | 274 | 18514 | 607111 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | SPAST CL E G H | 6683 | 100985 | | | | ORPHA | 0 | | 1014 | 11233 | 604277 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | SPEG CL E G H | 10290 | 169186 | | | | ORPHA | 0 | | 907 | 16901 | 615950 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | SPG11 CL E G H | 80208 | 616668 | Charcot-Marie-Tooth disease, axonal type 2X | 616668 | C4225253 | OMIM | 0 | | 2165 | 11226 | 610844 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | SPG7 CL E G H | 6687 | 99013 | | | | ORPHA | 0 | | 778 | 11237 | 602783 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | SPRY4 CL E G H | 81848 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 45 | 15533 | 607984 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | SUZ12 CL E G H | 23512 | 3447 | | | | ORPHA | 0 | | 103 | 17101 | 606245 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | SYT2 CL E G H | 127833 | 98914 | | | | ORPHA | 0 | | 160 | 11510 | 600104 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | TACR3 CL E G H | 6870 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 111 | 11528 | 162332 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | TPM2 CL E G H | 7169 | 171439 | | | | ORPHA | 0 | | 280 | 12011 | 190990 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | TPM3 CL E G H | 7170 | 171439 | | | | ORPHA | 0 | | 300 | 12012 | 191030 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | TRAPPC11 CL E G H | 60684 | 869 | | | | ORPHA | 0 | | 774 | 25751 | 614138 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | TTN CL E G H | 7273 | 169186 | | | | ORPHA | 0 | | 22859 | 12403 | 188840 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | TWNK CL E G H | 56652 | 616138 | Perrault syndrome 5 | 616138 | C4015307 | OMIM | 0 | | 308 | 1160 | 606075 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | VAMP1 CL E G H | 6843 | 251282 | | | | ORPHA | 0 | | 118 | 12642 | 185880 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | VAMP1 CL E G H | 6843 | 98914 | | | | ORPHA | 0 | | 118 | 12642 | 185880 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | WDR11 CL E G H | 55717 | 478 | Acral dysostosis dyserythropoiesis syndrome | | | ORPHA | 0 | | 293 | 13831 | 606417 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | XRCC4 CL E G H | 7518 | 616541 | Short stature, microcephaly, and endocrine dysfunction | 616541 | C4225288 | OMIM | 0 | | 86 | 12831 | 194363 |
HP:0001761 | HP:0008075 | Progressive pes cavus | 1 | ZFYVE26 CL E G H | 23503 | 100996 | | | | ORPHA | 0 | | 1894 | 20761 | 612012 |