Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001171 | HP:0001171 | Split hand | 0 | AHSG CL E G H | 197 | 349 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | ARHGAP31 CL E G H | 57514 | 29216 | ORPHA:974 | Adams-Oliver syndrome | HP:0040282 - Frequent | | | 147 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | ARSB CL E G H | 411 | 714 | OMIM:253200 | Mucopolysaccharidosis, type VI | . | | | 120 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | BHLHA9 CL E G H | 727857 | 35126 | ORPHA:3329 | Tibial aplasia-ectrodactyly syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:100998 | Autosomal dominant spastic paraplegia type 17 | HP:0040283 - Occasional | | | 105 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:270685 | Spastic paraplegia 17 | | | | 105 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | BTRC CL E G H | 8945 | 1144 | ORPHA:2440 | Isolated split hand-split foot malformation | HP:0040283 - Occasional | | | 2 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | CDH3 CL E G H | 1001 | 1762 | OMIM:225280 | Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome | . | | | 87 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | CTDP1 CL E G H | 9150 | 2498 | OMIM:604168 | Congenital cataracts, facial dysmorphism, and neuropathy | . | | | 17 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | CTSD CL E G H | 1509 | 2529 | OMIM:610127 | Ceroid lipofuscinosis, neuronal, 10 | | | | 159 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040283 - Occasional | | | 159 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | DLL4 CL E G H | 54567 | 2910 | ORPHA:974 | Adams-Oliver syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | DLX5 CL E G H | 1749 | 2918 | ORPHA:2440 | Isolated split hand-split foot malformation | HP:0040283 - Occasional | | | 3 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | DLX5 CL E G H | 1749 | 2918 | OMIM:183600 | Split-Hand/foot malformation 1 | HP:0040281 - Very frequent | | | 3 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | DLX5 CL E G H | 1749 | 2918 | OMIM:220600 | Split-Hand/foot malformation 1 with sensorineural hearing loss | . | | | 3 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | DLX6 CL E G H | 1750 | 2919 | ORPHA:2440 | Isolated split hand-split foot malformation | HP:0040283 - Occasional | | | | | |
HP:0001171 | HP:0001171 | Split hand | 0 | DOCK6 CL E G H | 57572 | 19189 | ORPHA:974 | Adams-Oliver syndrome | HP:0040282 - Frequent | | | 18 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | EGR2 CL E G H | 1959 | 3239 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | . | | | 58 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | EOGT CL E G H | 285203 | 28526 | ORPHA:974 | Adams-Oliver syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | EPS15L1 CL E G H | 58513 | 24634 | ORPHA:2440 | Isolated split hand-split foot malformation | HP:0040283 - Occasional | | | | | |
HP:0001171 | HP:0001171 | Split hand | 0 | FBXW4 CL E G H | 6468 | 10847 | ORPHA:2440 | Isolated split hand-split foot malformation | HP:0040283 - Occasional | | | 37 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2117 | Hartsfield syndrome | HP:0040282 - Frequent | | | 172 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:1860 | Thanatophoric dysplasia type 1 | HP:0040281 - Very frequent | | | 145 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0001171 | HP:0001171 | Split hand | 0 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | | | | 108 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | GDAP1 CL E G H | 54332 | 15968 | OMIM:607831 | Charcot-Marie-Tooth disease, axonal, type 2K | . | | | 108 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:93322 | Tibial hemimelia | HP:0040282 - Frequent | | | 270 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252600 | Mucolipidosis III alpha/beta | . | | | 240 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | HP:0040284 - Very rare | | | 12 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | . | | | 98 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | HSPB1 CL E G H | 3315 | 5246 | OMIM:606595 | Charcot-Marie-Tooth disease, axonal, type 2F | . | | | 47 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | . | | | 86 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | INF2 CL E G H | 64423 | 23791 | OMIM:614455 | Charcot-Marie-Tooth disease, dominant intermediate E | . | | | 135 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:1300 | Autosomal dominant popliteal pterygium syndrome | HP:0040283 - Occasional | | | 99 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | ITGB6 CL E G H | 3694 | 6161 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | JPH1 CL E G H | 56704 | 14201 | OMIM:607831 | Charcot-Marie-Tooth disease, axonal, type 2K | . | | | 1 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | LSS CL E G H | 4047 | 6708 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | MAP3K20 CL E G H | 51776 | 17797 | OMIM:616890 | Split-Foot malformation with mesoaxial polydactyly | | | | 2 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | MCM3AP CL E G H | 8888 | 6946 | OMIM:618124 | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | | | | 3 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:305450 | Opitz-Kaveggia syndrome | . | | | 228 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | MMP2 CL E G H | 4313 | 7166 | OMIM:259600 | Multicentric osteolysis, nodulosis, and arthropathy | . | | | 64 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | MORC2 CL E G H | 22880 | 23573 | OMIM:616688 | Charcot-Marie-Tooth disease, axonal, type 2Z | HP:0040283 - Occasional | | | 8 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:118200 | Charcot-Marie-Tooth disease, demyelinating, type 1B | . | | | 134 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | . | | | 134 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | NDRG1 CL E G H | 10397 | 7679 | ORPHA:99950 | Charcot-Marie-Tooth disease type 4D | HP:0040283 - Occasional | | | 82 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | NEFL CL E G H | 4747 | 7739 | OMIM:617882 | Charcot-Marie-Tooth disease, dominant intermediate G | . | | | 118 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | | | |
HP:0001171 | HP:0001171 | Split hand | 0 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:974 | Adams-Oliver syndrome | HP:0040282 - Frequent | | | 452 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 118 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:118300 | Charcot-Marie-Tooth disease and deafness | . | | | 79 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:90658 | Charcot-Marie-Tooth disease type 1E | HP:0040283 - Occasional | | | 79 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:118220 | Charcot-Marie-Tooth disease, demyelinating, type 1A | . | | | 79 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | . | | | 79 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | HP:0040281 - Very frequent | | | 20 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | PRX CL E G H | 57716 | 13797 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | . | | | 170 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | RBPJ CL E G H | 3516 | 5724 | ORPHA:974 | Adams-Oliver syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040283 - Occasional | | | 120 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | SBF2 CL E G H | 81846 | 2135 | OMIM:604563 | Charcot-Marie-Tooth disease, type 4B2 | . | | | 180 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | SEM1 CL E G H | 7979 | 10845 | ORPHA:2440 | Isolated split hand-split foot malformation | HP:0040283 - Occasional | | | | | |
HP:0001171 | HP:0001171 | Split hand | 0 | SIGMAR1 CL E G H | 10280 | 8157 | OMIM:605726 | Spinal muscular atrophy, distal, autosomal recessive, 2 | HP:0040283 - Occasional | | | 6 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | SLC52A2 CL E G H | 79581 | 30224 | OMIM:614707 | Brown-Vialetto-Van laere syndrome 2 | . | | | 47 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | SVBP CL E G H | 374969 | 29204 | OMIM:618569 | NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM | | | | | | |
HP:0001171 | HP:0001171 | Split hand | 0 | TBX5 CL E G H | 6910 | 11604 | ORPHA:392 | Holt-Oram syndrome | HP:0040281 - Very frequent | | | 123 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | HP:0040282 - Frequent | | | 31 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:103285 | Adult syndrome | . | | | 140 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | . | | | 140 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:1896 | EEC syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:2440 | Isolated split hand-split foot malformation | HP:0040283 - Occasional | | | 140 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:603543 | Limb-Mammary syndrome | . | | | 140 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:605289 | Split-Hand/foot malformation 4 | . | | | 140 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | WNT10B CL E G H | 7480 | 12775 | ORPHA:2440 | Isolated split hand-split foot malformation | HP:0040283 - Occasional | | | 4 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | WNT10B CL E G H | 7480 | 12775 | OMIM:225300 | SPLIT-HAND/FOOT MALFORMATION 6; SHFM6 | | | | 4 | | |
HP:0001171 | HP:0001171 | Split hand | 0 | WNT7A CL E G H | 7476 | 12786 | OMIM:276820 | Ulna and fibula, absence of, with severe limb deficiency | HP:0040282 - Frequent | | | 13 | | |