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:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | ABCC9 CL E G H | 10060 | 60 | ORPHA:1517 | Hypertrichotic osteochondrodysplasia, Cantu type | | | | 254 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | ACTB CL E G H | 60 | 132 | OMIM:243310 | Baraitser-Winter syndrome 1 | | | | 72 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | ACVR1 CL E G H | 90 | 171 | ORPHA:337 | Fibrodysplasia ossificans progressiva | | | | 49 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | | | | | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 166 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | | | | 5 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | BHLHA9 CL E G H | 727857 | 35126 | OMIM:609432 | Syndactyly, mesoaxial synostotic, with phalangeal reduction | | | | 4 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | BMP2 CL E G H | 650 | 1069 | ORPHA:261295 | 20p12.3 microdeletion syndrome | | | | 13 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:79076 | Juvenile polyposis of infancy | | | | 385 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | BMPR1B CL E G H | 658 | 1077 | ORPHA:2098 | Acromesomelic dysplasia, Grebe type | | | | 90 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | | | | 5769 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | | | | 7642 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | | | | 1086 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | | | | 27 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | CASK CL E G H | 8573 | 1497 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 118 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 405 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:610 | Bethlem myopathy | | | | 65 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | | | | 749 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:610 | Bethlem myopathy | | | | 442 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:610 | Bethlem myopathy | | | | 478 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:610 | Bethlem myopathy | | | | 702 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | CTCF CL E G H | 10664 | 13723 | ORPHA:363611 | CTCF-related neurodevelopmental disorder | | | | 20 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | | | | 2 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 3 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | EFNB1 CL E G H | 1947 | 3226 | ORPHA:1520 | Craniofrontonasal dysplasia | | | | 27 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | EOGT CL E G H | 285203 | 28526 | OMIM:615297 | Adams-Oliver syndrome 4 | | | | 4 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | | | | 158 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | | | | 340 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | | | | 58 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | | | | 410 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | | | | 147 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | | | | 73 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | | | | 87 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | | | | 73 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | | | | 157 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | | | | 53 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | | | | 107 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:101600 | Pfeiffer syndrome | | | | 172 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:93258 | Pfeiffer syndrome type 1 | | | | 172 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:168624 | Familial scaphocephaly syndrome, McGillivray type | | | | 175 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1540 | Jackson-Weiss syndrome | | | | 175 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101600 | Pfeiffer syndrome | | | | 175 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:93258 | Pfeiffer syndrome type 1 | | | | 175 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:93259 | Pfeiffer syndrome type 2 | | | | 175 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:93260 | Pfeiffer syndrome type 3 | | | | 175 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:602849 | Muenke syndrome | | | | 145 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | | | | 8 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251071 | 8p23.1 microdeletion syndrome | | | | 87 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:2098 | Acromesomelic dysplasia, Grebe type | | | | 52 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:380 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:175700 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | GNAO1 CL E G H | 2775 | 4389 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 36 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:2662 | Keipert syndrome | | | | | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 108 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | GRM7 CL E G H | 2917 | 4599 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 5 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | HNRNPH1 CL E G H | 3187 | 5041 | OMIM:620083 | | | | | | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:93387 | Brachydactyly type E | | | | 25 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | HOXD13 CL E G H | 3239 | 5136 | OMIM:113200 | Brachydactyly, type D | | | | 25 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186000 | Synpolydactyly 1 | | | | 25 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | HPGD CL E G H | 3248 | 5154 | ORPHA:1525 | Cranio-osteoarthropathy | | | | 55 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | HPGD CL E G H | 3248 | 5154 | ORPHA:217059 | Isolated congenital digital clubbing | | | | 55 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | HPGD CL E G H | 3248 | 5154 | ORPHA:2796 | Pachydermoperiostosis | | | | 55 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | HYLS1 CL E G H | 219844 | 26558 | OMIM:236680 | Hydrolethalus syndrome 1 | | | | 31 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | | | | 93 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | IHH CL E G H | 3549 | 5956 | OMIM:112500 | Brachydactyly, type A1 | | | | 44 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 145 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | | | | 13 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | KCNJ8 CL E G H | 3764 | 6269 | ORPHA:1517 | Hypertrichotic osteochondrodysplasia, Cantu type | | | | 23 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | KCNN3 CL E G H | 3782 | 6292 | OMIM:618658 | ZIMMERMANN-LABAND SYNDROME 3; ZLS3 | | | | 7 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | KIF1A CL E G H | 547 | 888 | ORPHA:970 | Hereditary sensory and autonomic neuropathy type 2 | | | | 276 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | KIF1A CL E G H | 547 | 888 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | | | | 276 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | LMBR1 CL E G H | 64327 | 13243 | OMIM:174500 | Polydactyly, preaxial II | | | | 106 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:280365 | Autosomal semi-dominant severe lipodystrophic laminopathy | | | | 645 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:2229 | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | | | | 645 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:248370 | Mandibuloacral dysplasia | | | | 645 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | | | | 645 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | | | | 1 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:488232 | Split-foot malformation-mesoaxial polydactyly syndrome | | | | 2 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | | | | 43 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | MTX2 CL E G H | 10651 | 7506 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | | | | | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | | | | 101 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | NEUROD2 CL E G H | 4761 | 7763 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | NOG CL E G H | 9241 | 7866 | ORPHA:140908 | Brachydactyly type B2 | | | | 22 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | NOG CL E G H | 9241 | 7866 | OMIM:611377 | Brachydactyly, type B2 | | | | 22 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | NOG CL E G H | 9241 | 7866 | OMIM:185800 | Symphalangism, proximal, 1A | | | | 22 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:102500 | Hajdu-Cheney syndrome | | | | 138 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | | | | 2 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | | | | 1349 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | PIGF CL E G H | 5281 | 8962 | OMIM:619356 | ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS | | | | | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | PIGL CL E G H | 9487 | 8966 | ORPHA:3474 | CHIME syndrome | | | | 36 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | PIGP CL E G H | 51227 | 3046 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 2 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | PIGQ CL E G H | 9091 | 14135 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 3 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | PNKP CL E G H | 11284 | 9154 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 244 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:79076 | Juvenile polyposis of infancy | | | | 948 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | PTHLH CL E G H | 5744 | 9607 | ORPHA:93387 | Brachydactyly type E | | | | 6 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | | | | 9 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | | | | 391 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | RETREG1 CL E G H | 54463 | 25964 | ORPHA:970 | Hereditary sensory and autonomic neuropathy type 2 | | | | 54 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | RETREG1 CL E G H | 54463 | 25964 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | | | | 54 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | | | | | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | RHBDF2 CL E G H | 79651 | 20788 | ORPHA:2198 | Palmoplantar keratoderma-esophageal carcinoma syndrome | | | | 80 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | RIPK4 CL E G H | 54101 | 496 | ORPHA:1234 | Bartsocas-Papas syndrome | | | | 69 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | | | | 120 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | ROR2 CL E G H | 4920 | 10257 | OMIM:113000 | Brachydactyly, type B1 | | | | 120 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | | | | 124 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | | | | 86 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251019 | 2q32q33 microdeletion syndrome | | | | 34 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 126 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 427 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | SCN9A CL E G H | 6335 | 10597 | ORPHA:970 | Hereditary sensory and autonomic neuropathy type 2 | | | | 318 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | SCN9A CL E G H | 6335 | 10597 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | | | | 318 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | SIK1 CL E G H | 150094 | 11142 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 11 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | SLC25A22 CL E G H | 79751 | 19954 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 166 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | SLCO2A1 CL E G H | 6578 | 10955 | ORPHA:2796 | Pachydermoperiostosis | | | | 13 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | | | | 274 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | SMARCA2 CL E G H | 6595 | 11098 | ORPHA:3051 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | SMO CL E G H | 6608 | 11119 | OMIM:601707 | Curry-Jones syndrome | | | | 22 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | SUMF1 CL E G H | 285362 | 20376 | ORPHA:585 | Multiple sulfatase deficiency | | | | 80 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | | | | 271 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | TBR1 CL E G H | 10716 | 11590 | ORPHA:1617 | 2q24 microdeletion syndrome | | | | 1 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | TLL1 CL E G H | 7092 | 11843 | ORPHA:99106 | Atrial septal defect, ostium primum type | | | | 6 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:605289 | Split-Hand/foot malformation 4 | | | | 140 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | TRIM8 CL E G H | 81603 | 15579 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 1 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606835 | Digital arthropathy-brachydactyly, familial | | | | 214 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:85169 | Familial digital arthropathy-brachydactyly | | | | 214 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | TWIST1 CL E G H | 7291 | 12428 | OMIM:180750 | Robinow-Sorauf syndrome | | | | 18 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | | | | 7 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | | | | 2 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614378 | Cranioectodermal dysplasia 4 | | | | 95 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | WLS CL E G H | 79971 | 30238 | OMIM:619648 | ZAKI SYNDROME; ZKS | | | | | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | WNK1 CL E G H | 65125 | 14540 | ORPHA:970 | Hereditary sensory and autonomic neuropathy type 2 | | | | 199 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | WNK1 CL E G H | 65125 | 14540 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | | | | 199 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | WNT7A CL E G H | 7476 | 12786 | OMIM:276820 | Ulna and fibula, absence of, with severe limb deficiency | | | | 13 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | | | | 125 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:90154 | Mandibuloacral dysplasia with type B lipodystrophy | | | | 83 | | |
HP:0010161 | HP:0010161 | Abnormality of the phalanges of the toes | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:608612 | Mandibuloacral dysplasia with type B lipodystrophy | | | | 83 | | |
HP:0010161 | HP:0100924 | Sclerosis of toe phalanx | 1 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0041240 | Fractured phalanx of pes | 1 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | ABCC9 CL E G H | 10060 | 60 | ORPHA:1517 | Hypertrichotic osteochondrodysplasia, Cantu type | | | | 254 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | ABCC9 CL E G H | 10060 | 60 | ORPHA:1517 | Hypertrichotic osteochondrodysplasia, Cantu type | | | | 254 | | |
HP:0010161 | HP:0010181 | Duplication of phalanx of toe | 1 | ACTB CL E G H | 60 | 132 | OMIM:243310 | Baraitser-Winter syndrome 1 | | | | 72 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | ACTB CL E G H | 60 | 132 | OMIM:243310 | Baraitser-Winter syndrome 1 | | | | 72 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | ACVR1 CL E G H | 90 | 171 | ORPHA:337 | Fibrodysplasia ossificans progressiva | | | | 49 | | |
HP:0010161 | HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes | 1 | ACVR1 CL E G H | 90 | 171 | ORPHA:337 | Fibrodysplasia ossificans progressiva | | | | 49 | | |
HP:0010161 | HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes | 1 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0010161 | HP:0010182 | Abnormality of the distal phalanges of the toes | 1 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0010161 | HP:0010342 | Abnormality of the phalanges of the 5th toe | 1 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0010161 | HP:0005035 | Shortening of all phalanges of the toes | 1 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | | | | | | |
HP:0010161 | HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes | 1 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | | | | | | |
HP:0010161 | HP:0010182 | Abnormality of the distal phalanges of the toes | 1 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | | | | | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | ARX CL E G H | 170302 | 18060 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 166 | | |
HP:0010161 | HP:0010324 | Abnormal morphology of phalanx of the 2nd toe | 1 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | | | | 5 | | |
HP:0010161 | HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes | 1 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | | | | 5 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | BHLHA9 CL E G H | 727857 | 35126 | OMIM:609432 | Syndactyly, mesoaxial synostotic, with phalangeal reduction | | | | 4 | | |
HP:0010161 | HP:0010179 | Symphalangism affecting the phalanges of the toes | 1 | BHLHA9 CL E G H | 727857 | 35126 | OMIM:609432 | Syndactyly, mesoaxial synostotic, with phalangeal reduction | | | | 4 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | BMP2 CL E G H | 650 | 1069 | ORPHA:261295 | 20p12.3 microdeletion syndrome | | | | 13 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | BMP2 CL E G H | 650 | 1069 | ORPHA:261295 | 20p12.3 microdeletion syndrome | | | | 13 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | BMPR1A CL E G H | 657 | 1076 | ORPHA:79076 | Juvenile polyposis of infancy | HP:0040283 - Occasional | | | 385 | | |
HP:0010161 | HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes | 1 | BMPR1B CL E G H | 658 | 1077 | ORPHA:2098 | Acromesomelic dysplasia, Grebe type | | | | 90 | | |
HP:0010161 | HP:0100760 | Clubbing of toes | 1 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 5769 | | |
HP:0010161 | HP:0100760 | Clubbing of toes | 1 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 7642 | | |
HP:0010161 | HP:0100760 | Clubbing of toes | 1 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1086 | | |
HP:0010161 | HP:0010181 | Duplication of phalanx of toe | 1 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | | | | 27 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | | | | 27 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | |
HP:0010161 | HP:0010181 | Duplication of phalanx of toe | 1 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | |
HP:0010161 | HP:0010182 | Abnormality of the distal phalanges of the toes | 1 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | CASK CL E G H | 8573 | 1497 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 118 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 405 | | |
HP:0010161 | HP:0010176 | Curved toe phalanx | 1 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:610 | Bethlem myopathy | HP:0040283 - Occasional | | | 65 | | |
HP:0010161 | HP:0010177 | Osteolytic defects of the phalanges of the toes | 1 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | | | | 749 | | |
HP:0010161 | HP:0010176 | Curved toe phalanx | 1 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:610 | Bethlem myopathy | HP:0040283 - Occasional | | | 442 | | |
HP:0010161 | HP:0010176 | Curved toe phalanx | 1 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:610 | Bethlem myopathy | HP:0040283 - Occasional | | | 478 | | |
HP:0010161 | HP:0010176 | Curved toe phalanx | 1 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:610 | Bethlem myopathy | HP:0040283 - Occasional | | | 702 | | |
HP:0010161 | HP:0010181 | Duplication of phalanx of toe | 1 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | CTCF CL E G H | 10664 | 13723 | ORPHA:363611 | CTCF-related neurodevelopmental disorder | | | | 20 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | CTCF CL E G H | 10664 | 13723 | ORPHA:363611 | CTCF-related neurodevelopmental disorder | | | | 20 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | | | | 2 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | | | | 2 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 3 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | EFNB1 CL E G H | 1947 | 3226 | ORPHA:1520 | Craniofrontonasal dysplasia | | | | 27 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | EFNB1 CL E G H | 1947 | 3226 | ORPHA:1520 | Craniofrontonasal dysplasia | | | | 27 | | |
HP:0010161 | HP:0010330 | Abnormality of the phalanges of the 3rd toe | 1 | EOGT CL E G H | 285203 | 28526 | OMIM:615297 | Adams-Oliver syndrome 4 | | | | 4 | | |
HP:0010161 | HP:0010183 | Abnormality of the middle phalanges of the toes | 1 | EOGT CL E G H | 285203 | 28526 | OMIM:615297 | Adams-Oliver syndrome 4 | | | | 4 | | |
HP:0010161 | HP:0010182 | Abnormality of the distal phalanges of the toes | 1 | EOGT CL E G H | 285203 | 28526 | OMIM:615297 | Adams-Oliver syndrome 4 | | | | 4 | | |
HP:0010161 | HP:0010336 | Abnormality of the phalanges of the 4th toe | 1 | EOGT CL E G H | 285203 | 28526 | OMIM:615297 | Adams-Oliver syndrome 4 | | | | 4 | | |
HP:0010161 | HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes | 1 | EOGT CL E G H | 285203 | 28526 | OMIM:615297 | Adams-Oliver syndrome 4 | | | | 4 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0010161 | HP:0010181 | Duplication of phalanx of toe | 1 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0010161 | HP:0100760 | Clubbing of toes | 1 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 158 | | |
HP:0010161 | HP:0100760 | Clubbing of toes | 1 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 340 | | |
HP:0010161 | HP:0100760 | Clubbing of toes | 1 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 58 | | |
HP:0010161 | HP:0100760 | Clubbing of toes | 1 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 410 | | |
HP:0010161 | HP:0100760 | Clubbing of toes | 1 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 147 | | |
HP:0010161 | HP:0100760 | Clubbing of toes | 1 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 73 | | |
HP:0010161 | HP:0100760 | Clubbing of toes | 1 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 87 | | |
HP:0010161 | HP:0100760 | Clubbing of toes | 1 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 73 | | |
HP:0010161 | HP:0100760 | Clubbing of toes | 1 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 157 | | |
HP:0010161 | HP:0100760 | Clubbing of toes | 1 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 53 | | |
HP:0010161 | HP:0100760 | Clubbing of toes | 1 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 107 | | |
HP:0010161 | HP:0010183 | Abnormality of the middle phalanges of the toes | 1 | FGFR1 CL E G H | 2260 | 3688 | OMIM:101600 | Pfeiffer syndrome | | | | 172 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:93258 | Pfeiffer syndrome type 1 | | | | 172 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:93258 | Pfeiffer syndrome type 1 | | | | 172 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:168624 | Familial scaphocephaly syndrome, McGillivray type | | | | 175 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:168624 | Familial scaphocephaly syndrome, McGillivray type | | | | 175 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1540 | Jackson-Weiss syndrome | | | | 175 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1540 | Jackson-Weiss syndrome | | | | 175 | | |
HP:0010161 | HP:0010183 | Abnormality of the middle phalanges of the toes | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101600 | Pfeiffer syndrome | | | | 175 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:93258 | Pfeiffer syndrome type 1 | | | | 175 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:93258 | Pfeiffer syndrome type 1 | | | | 175 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:93259 | Pfeiffer syndrome type 2 | | | | 175 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:93259 | Pfeiffer syndrome type 2 | | | | 175 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:93260 | Pfeiffer syndrome type 3 | | | | 175 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:93260 | Pfeiffer syndrome type 3 | | | | 175 | | |
HP:0010161 | HP:0010183 | Abnormality of the middle phalanges of the toes | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:602849 | Muenke syndrome | | | | 145 | | |
HP:0010161 | HP:0010182 | Abnormality of the distal phalanges of the toes | 1 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0010161 | HP:0005035 | Shortening of all phalanges of the toes | 1 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0010161 | HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes | 1 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0010161 | HP:0010183 | Abnormality of the middle phalanges of the toes | 1 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | | | | 8 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | | | | 8 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251071 | 8p23.1 microdeletion syndrome | | | | 87 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251071 | 8p23.1 microdeletion syndrome | | | | 87 | | |
HP:0010161 | HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes | 1 | GDF5 CL E G H | 8200 | 4220 | ORPHA:2098 | Acromesomelic dysplasia, Grebe type | | | | 52 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:380 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | GLI3 CL E G H | 2737 | 4319 | OMIM:175700 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | GLI3 CL E G H | 2737 | 4319 | OMIM:175700 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:380 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | GNAO1 CL E G H | 2775 | 4389 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 36 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | GPC4 CL E G H | 2239 | 4452 | ORPHA:2662 | Keipert syndrome | | | | | | |
HP:0010161 | HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes | 1 | GPC4 CL E G H | 2239 | 4452 | ORPHA:2662 | Keipert syndrome | | | | | | |
HP:0010161 | HP:0010182 | Abnormality of the distal phalanges of the toes | 1 | GPC4 CL E G H | 2239 | 4452 | ORPHA:2662 | Keipert syndrome | | | | | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | GPC4 CL E G H | 2239 | 4452 | ORPHA:2662 | Keipert syndrome | | | | | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 108 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | GRM7 CL E G H | 2917 | 4599 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 5 | | |
HP:0010161 | HP:0100760 | Clubbing of toes | 1 | HNRNPH1 CL E G H | 3187 | 5041 | OMIM:620083 | | | | | | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:93387 | Brachydactyly type E | | | | 25 | | |
HP:0010161 | HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes | 1 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:93387 | Brachydactyly type E | | | | 25 | | |
HP:0010161 | HP:0010182 | Abnormality of the distal phalanges of the toes | 1 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:93387 | Brachydactyly type E | | | | 25 | | |
HP:0010161 | HP:0010182 | Abnormality of the distal phalanges of the toes | 1 | HOXD13 CL E G H | 3239 | 5136 | OMIM:113200 | Brachydactyly, type D | | | | 25 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | HOXD13 CL E G H | 3239 | 5136 | OMIM:113200 | Brachydactyly, type D | | | | 25 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | HOXD13 CL E G H | 3239 | 5136 | OMIM:113200 | Brachydactyly, type D | | | | 25 | | |
HP:0010161 | HP:0010183 | Abnormality of the middle phalanges of the toes | 1 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186000 | Synpolydactyly 1 | | | | 25 | | |
HP:0010161 | HP:0100760 | Clubbing of toes | 1 | HPGD CL E G H | 3248 | 5154 | ORPHA:1525 | Cranio-osteoarthropathy | HP:0040282 - Frequent | | | 55 | | |
HP:0010161 | HP:0100760 | Clubbing of toes | 1 | HPGD CL E G H | 3248 | 5154 | ORPHA:217059 | Isolated congenital digital clubbing | | | | 55 | | |
HP:0010161 | HP:0100760 | Clubbing of toes | 1 | HPGD CL E G H | 3248 | 5154 | ORPHA:2796 | Pachydermoperiostosis | HP:0040282 - Frequent | | | 55 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0010161 | HP:0010182 | Abnormality of the distal phalanges of the toes | 1 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0010161 | HP:0010181 | Duplication of phalanx of toe | 1 | HYLS1 CL E G H | 219844 | 26558 | OMIM:236680 | Hydrolethalus syndrome 1 | | | | 31 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | HYLS1 CL E G H | 219844 | 26558 | OMIM:236680 | Hydrolethalus syndrome 1 | | | | 31 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | | | | 93 | | |
HP:0010161 | HP:0010183 | Abnormality of the middle phalanges of the toes | 1 | IHH CL E G H | 3549 | 5956 | OMIM:112500 | Brachydactyly, type A1 | | | | 44 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | IHH CL E G H | 3549 | 5956 | OMIM:112500 | Brachydactyly, type A1 | | | | 44 | | |
HP:0010161 | HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes | 1 | IHH CL E G H | 3549 | 5956 | OMIM:112500 | Brachydactyly, type A1 | | | | 44 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 145 | | |
HP:0010161 | HP:0005035 | Shortening of all phalanges of the toes | 1 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | | | | 13 | | |
HP:0010161 | HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes | 1 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | | | | 13 | | |
HP:0010161 | HP:0010182 | Abnormality of the distal phalanges of the toes | 1 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | | | | 13 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | KCNJ8 CL E G H | 3764 | 6269 | ORPHA:1517 | Hypertrichotic osteochondrodysplasia, Cantu type | | | | 23 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | KCNJ8 CL E G H | 3764 | 6269 | ORPHA:1517 | Hypertrichotic osteochondrodysplasia, Cantu type | | | | 23 | | |
HP:0010161 | HP:0010182 | Abnormality of the distal phalanges of the toes | 1 | KCNN3 CL E G H | 3782 | 6292 | OMIM:618658 | ZIMMERMANN-LABAND SYNDROME 3; ZLS3 | | | | 7 | | |
HP:0010161 | HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes | 1 | KCNN3 CL E G H | 3782 | 6292 | OMIM:618658 | ZIMMERMANN-LABAND SYNDROME 3; ZLS3 | | | | 7 | | |
HP:0010161 | HP:0010342 | Abnormality of the phalanges of the 5th toe | 1 | KCNN3 CL E G H | 3782 | 6292 | OMIM:618658 | ZIMMERMANN-LABAND SYNDROME 3; ZLS3 | | | | 7 | | |
HP:0010161 | HP:0010324 | Abnormal morphology of phalanx of the 2nd toe | 1 | KCNN3 CL E G H | 3782 | 6292 | OMIM:618658 | ZIMMERMANN-LABAND SYNDROME 3; ZLS3 | | | | 7 | | |
HP:0010161 | HP:0010177 | Osteolytic defects of the phalanges of the toes | 1 | KIF1A CL E G H | 547 | 888 | ORPHA:970 | Hereditary sensory and autonomic neuropathy type 2 | | | | 276 | | |
HP:0010161 | HP:0010177 | Osteolytic defects of the phalanges of the toes | 1 | KIF1A CL E G H | 547 | 888 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | | | | 276 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0010161 | HP:0010181 | Duplication of phalanx of toe | 1 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0010161 | HP:0010181 | Duplication of phalanx of toe | 1 | LMBR1 CL E G H | 64327 | 13243 | OMIM:174500 | Polydactyly, preaxial II | | | | 106 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | LMBR1 CL E G H | 64327 | 13243 | OMIM:174500 | Polydactyly, preaxial II | | | | 106 | | |
HP:0010161 | HP:0010177 | Osteolytic defects of the phalanges of the toes | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:280365 | Autosomal semi-dominant severe lipodystrophic laminopathy | | | | 645 | | |
HP:0010161 | HP:0010182 | Abnormality of the distal phalanges of the toes | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:280365 | Autosomal semi-dominant severe lipodystrophic laminopathy | | | | 645 | | |
HP:0010161 | HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:2229 | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | | | | 645 | | |
HP:0010161 | HP:0010330 | Abnormality of the phalanges of the 3rd toe | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:2229 | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | | | | 645 | | |
HP:0010161 | HP:0010182 | Abnormality of the distal phalanges of the toes | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:248370 | Mandibuloacral dysplasia | | | | 645 | | |
HP:0010161 | HP:0010177 | Osteolytic defects of the phalanges of the toes | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:248370 | Mandibuloacral dysplasia | | | | 645 | | |
HP:0010161 | HP:0010182 | Abnormality of the distal phalanges of the toes | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | | | | 645 | | |
HP:0010161 | HP:0010177 | Osteolytic defects of the phalanges of the toes | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | | | | 645 | | |
HP:0010161 | HP:0100760 | Clubbing of toes | 1 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0010161 | HP:0010330 | Abnormality of the phalanges of the 3rd toe | 1 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:488232 | Split-foot malformation-mesoaxial polydactyly syndrome | | | | 2 | | |
HP:0010161 | HP:0010179 | Symphalangism affecting the phalanges of the toes | 1 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:488232 | Split-foot malformation-mesoaxial polydactyly syndrome | | | | 2 | | |
HP:0010161 | HP:0010184 | Abnormality of toe proximal phalanx | 1 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:488232 | Split-foot malformation-mesoaxial polydactyly syndrome | | | | 2 | | |
HP:0010161 | HP:0010336 | Abnormality of the phalanges of the 4th toe | 1 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:488232 | Split-foot malformation-mesoaxial polydactyly syndrome | | | | 2 | | |
HP:0010161 | HP:0010324 | Abnormal morphology of phalanx of the 2nd toe | 1 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:488232 | Split-foot malformation-mesoaxial polydactyly syndrome | | | | 2 | | |
HP:0010161 | HP:0010180 | Triangular shaped phalanges of the toes | 1 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:488232 | Split-foot malformation-mesoaxial polydactyly syndrome | | | | 2 | | |
HP:0010161 | HP:0010182 | Abnormality of the distal phalanges of the toes | 1 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:488232 | Split-foot malformation-mesoaxial polydactyly syndrome | | | | 2 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:488232 | Split-foot malformation-mesoaxial polydactyly syndrome | | | | 2 | | |
HP:0010161 | HP:0010342 | Abnormality of the phalanges of the 5th toe | 1 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:488232 | Split-foot malformation-mesoaxial polydactyly syndrome | | | | 2 | | |
HP:0010161 | HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes | 1 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:488232 | Split-foot malformation-mesoaxial polydactyly syndrome | | | | 2 | | |
HP:0010161 | HP:0010182 | Abnormality of the distal phalanges of the toes | 1 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | | | | 43 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | | | | 43 | | |
HP:0010161 | HP:0010177 | Osteolytic defects of the phalanges of the toes | 1 | MTX2 CL E G H | 10651 | 7506 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | | | | | | |
HP:0010161 | HP:0010182 | Abnormality of the distal phalanges of the toes | 1 | MTX2 CL E G H | 10651 | 7506 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | | | | | | |
HP:0010161 | HP:0010181 | Duplication of phalanx of toe | 1 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | | | | 101 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | | | | 101 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | NEUROD2 CL E G H | 4761 | 7763 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | | | |
HP:0010161 | HP:0010182 | Abnormality of the distal phalanges of the toes | 1 | NOG CL E G H | 9241 | 7866 | ORPHA:140908 | Brachydactyly type B2 | | | | 22 | | |
HP:0010161 | HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes | 1 | NOG CL E G H | 9241 | 7866 | ORPHA:140908 | Brachydactyly type B2 | | | | 22 | | |
HP:0010161 | HP:0005035 | Shortening of all phalanges of the toes | 1 | NOG CL E G H | 9241 | 7866 | ORPHA:140908 | Brachydactyly type B2 | | | | 22 | | |
HP:0010161 | HP:0010183 | Abnormality of the middle phalanges of the toes | 1 | NOG CL E G H | 9241 | 7866 | OMIM:611377 | Brachydactyly, type B2 | | | | 22 | | |
HP:0010161 | HP:0010182 | Abnormality of the distal phalanges of the toes | 1 | NOG CL E G H | 9241 | 7866 | OMIM:611377 | Brachydactyly, type B2 | | | | 22 | | |
HP:0010161 | HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes | 1 | NOG CL E G H | 9241 | 7866 | OMIM:611377 | Brachydactyly, type B2 | | | | 22 | | |
HP:0010161 | HP:0010342 | Abnormality of the phalanges of the 5th toe | 1 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0010161 | HP:0010330 | Abnormality of the phalanges of the 3rd toe | 1 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0010161 | HP:0010179 | Symphalangism affecting the phalanges of the toes | 1 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0010161 | HP:0010183 | Abnormality of the middle phalanges of the toes | 1 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0010161 | HP:0010336 | Abnormality of the phalanges of the 4th toe | 1 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0010161 | HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes | 1 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0010161 | HP:0010180 | Triangular shaped phalanges of the toes | 1 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0010161 | HP:0010183 | Abnormality of the middle phalanges of the toes | 1 | NOG CL E G H | 9241 | 7866 | OMIM:185800 | Symphalangism, proximal, 1A | | | | 22 | | |
HP:0010161 | HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes | 1 | NOG CL E G H | 9241 | 7866 | OMIM:185800 | Symphalangism, proximal, 1A | | | | 22 | | |
HP:0010161 | HP:0010177 | Osteolytic defects of the phalanges of the toes | 1 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:102500 | Hajdu-Cheney syndrome | | | | 138 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | | | | 2 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | | | | 2 | | |
HP:0010161 | HP:0100760 | Clubbing of toes | 1 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1349 | | |
HP:0010161 | HP:0010182 | Abnormality of the distal phalanges of the toes | 1 | PIGF CL E G H | 5281 | 8962 | OMIM:619356 | ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS | | | | | | |
HP:0010161 | HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes | 1 | PIGF CL E G H | 5281 | 8962 | OMIM:619356 | ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS | | | | | | |
HP:0010161 | HP:0005035 | Shortening of all phalanges of the toes | 1 | PIGF CL E G H | 5281 | 8962 | OMIM:619356 | ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS | | | | | | |
HP:0010161 | HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes | 1 | PIGL CL E G H | 9487 | 8966 | ORPHA:3474 | CHIME syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0010161 | HP:0100760 | Clubbing of toes | 1 | PIGL CL E G H | 9487 | 8966 | ORPHA:3474 | CHIME syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | PIGP CL E G H | 51227 | 3046 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 2 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | PIGQ CL E G H | 9091 | 14135 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 3 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | PNKP CL E G H | 11284 | 9154 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 244 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:79076 | Juvenile polyposis of infancy | HP:0040283 - Occasional | | | 948 | | |
HP:0010161 | HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes | 1 | PTHLH CL E G H | 5744 | 9607 | ORPHA:93387 | Brachydactyly type E | | | | 6 | | |
HP:0010161 | HP:0010182 | Abnormality of the distal phalanges of the toes | 1 | PTHLH CL E G H | 5744 | 9607 | ORPHA:93387 | Brachydactyly type E | | | | 6 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | PTHLH CL E G H | 5744 | 9607 | ORPHA:93387 | Brachydactyly type E | | | | 6 | | |
HP:0010161 | HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes | 1 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0010161 | HP:0010181 | Duplication of phalanx of toe | 1 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0010161 | HP:0010183 | Abnormality of the middle phalanges of the toes | 1 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0010161 | HP:0100760 | Clubbing of toes | 1 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 9 | | |
HP:0010161 | HP:0100760 | Clubbing of toes | 1 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 391 | | |
HP:0010161 | HP:0010177 | Osteolytic defects of the phalanges of the toes | 1 | RETREG1 CL E G H | 54463 | 25964 | ORPHA:970 | Hereditary sensory and autonomic neuropathy type 2 | | | | 54 | | |
HP:0010161 | HP:0010177 | Osteolytic defects of the phalanges of the toes | 1 | RETREG1 CL E G H | 54463 | 25964 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | | | | 54 | | |
HP:0010161 | HP:0100760 | Clubbing of toes | 1 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | | | |
HP:0010161 | HP:0100760 | Clubbing of toes | 1 | RHBDF2 CL E G H | 79651 | 20788 | ORPHA:2198 | Palmoplantar keratoderma-esophageal carcinoma syndrome | HP:0040283 - Occasional | | | 80 | | |
HP:0010161 | HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes | 1 | RIPK4 CL E G H | 54101 | 496 | ORPHA:1234 | Bartsocas-Papas syndrome | | | | 69 | | |
HP:0010161 | HP:0010182 | Abnormality of the distal phalanges of the toes | 1 | RIPK4 CL E G H | 54101 | 496 | ORPHA:1234 | Bartsocas-Papas syndrome | | | | 69 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | | | | 120 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | | | | 120 | | |
HP:0010161 | HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes | 1 | ROR2 CL E G H | 4920 | 10257 | OMIM:113000 | Brachydactyly, type B1 | | | | 120 | | |
HP:0010161 | HP:0010182 | Abnormality of the distal phalanges of the toes | 1 | ROR2 CL E G H | 4920 | 10257 | OMIM:113000 | Brachydactyly, type B1 | | | | 120 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | | | | 124 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | | | | 124 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | | | | 86 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | | | | 86 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251019 | 2q32q33 microdeletion syndrome | | | | 34 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251019 | 2q32q33 microdeletion syndrome | | | | 34 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | SCN1B CL E G H | 6324 | 10586 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 126 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | SCN2A CL E G H | 6326 | 10588 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 427 | | |
HP:0010161 | HP:0010177 | Osteolytic defects of the phalanges of the toes | 1 | SCN9A CL E G H | 6335 | 10597 | ORPHA:970 | Hereditary sensory and autonomic neuropathy type 2 | | | | 318 | | |
HP:0010161 | HP:0010177 | Osteolytic defects of the phalanges of the toes | 1 | SCN9A CL E G H | 6335 | 10597 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | | | | 318 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | SIK1 CL E G H | 150094 | 11142 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 11 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | SLC25A22 CL E G H | 79751 | 19954 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 166 | | |
HP:0010161 | HP:0100760 | Clubbing of toes | 1 | SLCO2A1 CL E G H | 6578 | 10955 | ORPHA:2796 | Pachydermoperiostosis | HP:0040282 - Frequent | | | 13 | | |
HP:0010161 | HP:0100760 | Clubbing of toes | 1 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 274 | | |
HP:0010161 | HP:0100760 | Clubbing of toes | 1 | SMARCA2 CL E G H | 6595 | 11098 | ORPHA:3051 | Nicolaides-Baraitser syndrome | HP:0040282 - Frequent | | | 146 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | SMO CL E G H | 6608 | 11119 | OMIM:601707 | Curry-Jones syndrome | | | | 22 | | |
HP:0010161 | HP:0005035 | Shortening of all phalanges of the toes | 1 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | . | | | 109 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | SUMF1 CL E G H | 285362 | 20376 | ORPHA:585 | Multiple sulfatase deficiency | | | | 80 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | SUMF1 CL E G H | 285362 | 20376 | ORPHA:585 | Multiple sulfatase deficiency | | | | 80 | | |
HP:0010161 | HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes | 1 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | | | | 271 | | |
HP:0010161 | HP:0010324 | Abnormal morphology of phalanx of the 2nd toe | 1 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | | | | 271 | | |
HP:0010161 | HP:0010182 | Abnormality of the distal phalanges of the toes | 1 | TBR1 CL E G H | 10716 | 11590 | ORPHA:1617 | 2q24 microdeletion syndrome | | | | 1 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | TBR1 CL E G H | 10716 | 11590 | ORPHA:1617 | 2q24 microdeletion syndrome | | | | 1 | | |
HP:0010161 | HP:0010175 | Bullet-shaped toe phalanx | 1 | TBR1 CL E G H | 10716 | 11590 | ORPHA:1617 | 2q24 microdeletion syndrome | | | | 1 | | |
HP:0010161 | HP:0100760 | Clubbing of toes | 1 | TLL1 CL E G H | 7092 | 11843 | ORPHA:99106 | Atrial septal defect, ostium primum type | HP:0040283 - Occasional | | | 6 | | |
HP:0010161 | HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:605289 | Split-Hand/foot malformation 4 | | | | 140 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | TRIM8 CL E G H | 81603 | 15579 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 1 | | |
HP:0010161 | HP:0010183 | Abnormality of the middle phalanges of the toes | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606835 | Digital arthropathy-brachydactyly, familial | | | | 214 | | |
HP:0010161 | HP:0010182 | Abnormality of the distal phalanges of the toes | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606835 | Digital arthropathy-brachydactyly, familial | | | | 214 | | |
HP:0010161 | HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606835 | Digital arthropathy-brachydactyly, familial | | | | 214 | | |
HP:0010161 | HP:0005035 | Shortening of all phalanges of the toes | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606835 | Digital arthropathy-brachydactyly, familial | | | | 214 | | |
HP:0010161 | HP:0005035 | Shortening of all phalanges of the toes | 1 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:85169 | Familial digital arthropathy-brachydactyly | | | | 214 | | |
HP:0010161 | HP:0010183 | Abnormality of the middle phalanges of the toes | 1 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:85169 | Familial digital arthropathy-brachydactyly | | | | 214 | | |
HP:0010161 | HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes | 1 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:85169 | Familial digital arthropathy-brachydactyly | | | | 214 | | |
HP:0010161 | HP:0010182 | Abnormality of the distal phalanges of the toes | 1 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:85169 | Familial digital arthropathy-brachydactyly | | | | 214 | | |
HP:0010161 | HP:0010181 | Duplication of phalanx of toe | 1 | TWIST1 CL E G H | 7291 | 12428 | OMIM:180750 | Robinow-Sorauf syndrome | | | | 18 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | TWIST1 CL E G H | 7291 | 12428 | OMIM:180750 | Robinow-Sorauf syndrome | | | | 18 | | |
HP:0010161 | HP:0100760 | Clubbing of toes | 1 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | HP:0040283 - Occasional | | | 7 | | |
HP:0010161 | HP:0100760 | Clubbing of toes | 1 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 2 | | |
HP:0010161 | HP:0010182 | Abnormality of the distal phalanges of the toes | 1 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0010161 | HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes | 1 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0010161 | HP:0010057 | Abnormal hallux phalanx morphology | 1 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0010161 | HP:0005035 | Shortening of all phalanges of the toes | 1 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0010161 | HP:0010183 | Abnormality of the middle phalanges of the toes | 1 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0010161 | HP:0010174 | Broad phalanx of the toes | 1 | WDR19 CL E G H | 57728 | 18340 | OMIM:614378 | Cranioectodermal dysplasia 4 | . | | | 95 | | |
HP:0010161 | HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes | 1 | WLS CL E G H | 79971 | 30238 | OMIM:619648 | ZAKI SYNDROME; ZKS | | | | | | |
HP:0010161 | HP:0010177 | Osteolytic defects of the phalanges of the toes | 1 | WNK1 CL E G H | 65125 | 14540 | ORPHA:970 | Hereditary sensory and autonomic neuropathy type 2 | | | | 199 | | |
HP:0010161 | HP:0010177 | Osteolytic defects of the phalanges of the toes | 1 | WNK1 CL E G H | 65125 | 14540 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | | | | 199 | | |
HP:0010161 | HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes | 1 | WNT7A CL E G H | 7476 | 12786 | OMIM:276820 | Ulna and fibula, absence of, with severe limb deficiency | | | | 13 | | |
HP:0010161 | HP:0100760 | Clubbing of toes | 1 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 125 | | |
HP:0010161 | HP:0010182 | Abnormality of the distal phalanges of the toes | 1 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:608612 | Mandibuloacral dysplasia with type B lipodystrophy | | | | 83 | | |
HP:0010161 | HP:0010177 | Osteolytic defects of the phalanges of the toes | 1 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:608612 | Mandibuloacral dysplasia with type B lipodystrophy | | | | 83 | | |
HP:0010161 | HP:0010177 | Osteolytic defects of the phalanges of the toes | 1 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:90154 | Mandibuloacral dysplasia with type B lipodystrophy | | | | 83 | | |
HP:0010161 | HP:0010182 | Abnormality of the distal phalanges of the toes | 1 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:90154 | Mandibuloacral dysplasia with type B lipodystrophy | | | | 83 | | |
HP:0010161 | HP:0010386 | Curved 5th toe phalanx | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010210 | Triangular shaped proximal phalanges of the toes | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010368 | Abnormality of the distal phalanx of the 3rd toe | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010196 | Bullet-shaped middle toe phalanx | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010065 | Triangular shaped phalanges of the hallux | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0041180 | Fractured distal phalanx of pedal digit 1 | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010352 | Patchy sclerosis of 2nd toe phalanx | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010376 | Patchy sclerosis of 4th toe phalanx | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010203 | Aplasia/hypoplasia of proximal toe phalanx | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100929 | Sclerosis of 5th toe phalanx | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010361 | Bullet-shaped 3rd toe phalanx | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010209 | Symphalangism affecting the proximal phalanges of the toes | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100948 | Sclerosis of distal toe phalanx | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010385 | Bullet-shaped 5th toe phalanx | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010367 | Duplication of phalanx of the 3rd toe | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010195 | Broad middle phalanges of the toes | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0041175 | Fractured middle phalanx of pes | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010394 | Abnormal morphology of the proximal phalanx of the 5th toe | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010351 | Osteolytic defects of the phalanges of the 2nd toe | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0041187 | Fractured proximal phalanx of pedal digit 1 | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010375 | Osteolytic defects of the phalanges of the 4th toe | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010201 | Triangular shaped middle phalanges of the toes | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100928 | Sclerosis of 4th toe phalanx | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010360 | Broad phalanges of the 3rd toe | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100947 | Sclerosis of middle toe phalanx | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010384 | Broad phalanges of the 5th toe | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010365 | Symphalangism affecting the phalanges of the 3rd toe | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010192 | Triangular shaped distal phalanges of the toes | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010063 | Patchy sclerosis of hallux phalanx | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0011928 | Short proximal phalanx of toe | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010391 | Duplication of the phalanges of the 5th toe | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010350 | Curved 2nd toe phalanx | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010374 | Curved 4th toe phalanx | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010200 | Symphalangism affecting the middle phalanges of the toes | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100927 | Sclerosis of 3rd toe phalanx | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010357 | Abnormality of the middle phalanx of the 2nd toe | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100946 | Sclerosis of proximal toe phalanx | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010382 | Abnormal morphology of the proximal phalanx of the 4th toe | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010207 | Osteolytic defect of the proximal toe phalanx | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010191 | Symphalangism affecting the distal phalanges of the toes | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010062 | Osteolytic defects of the phalanges of the hallux | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010349 | Bullet-shaped 2nd toe phalanx | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010373 | Bullet-shaped 4th toe phalanx | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100926 | Sclerosis of 2nd toe phalanx | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010355 | Duplication of the phalanges of the 2nd toe | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010380 | Abnormality of the distal phalanx of the 4th toe | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010206 | Curved proximal toe phalanx | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010364 | Patchy sclerosis of 3rd toe phalanx | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010061 | Curved hallux phalanx | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010388 | Patchy sclerosis of 5th toe phalanx | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010348 | Broad phalanges of the 2nd toe | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0041181 | Fractured distal phalanx of pedal digit 3 | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010372 | Broad phalanges of the 4th toe | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010198 | Osteolytic defects of the middle phalanges of the toes | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010354 | Triangular shaped phalanges of the 2nd toe | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010379 | Duplication of phalanx of the 4th toe | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010205 | Bullet-shaped proximal toe phalanx | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010188 | Curved distal toe phalanx | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0001859 | Distal foot symphalangism | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010363 | Osteolytic defects of the phalanges of the 3rd toe | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010387 | Osteolytic defects of the phalanges of the 5th toe | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010211 | Duplication of proximal phalanx of toe | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010370 | Abnormal morphology of the proximal phalanx of the 3rd toe | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010197 | Curved middle toe phalanx | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010204 | Broad proximal phalanx of toe | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010178 | Patchy sclerosis of toe phalanx | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100930 | Sclerosis of hallux phalanx | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010362 | Curved 3rd toe phalanx | 2 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010059 | Broad hallux phalanx | 2 | ABCC9 CL E G H | 10060 | 60 | ORPHA:1517 | Hypertrichotic osteochondrodysplasia, Cantu type | HP:0040282 - Frequent | | | 254 | | |
HP:0010161 | HP:0010066 | Duplication of phalanx of hallux | 2 | ACTB CL E G H | 60 | 132 | OMIM:243310 | Baraitser-Winter syndrome 1 | HP:0040283 - Occasional | | | 72 | | |
HP:0010161 | HP:0010058 | Aplasia/Hypoplasia of the phalanges of the hallux | 2 | ACVR1 CL E G H | 90 | 171 | ORPHA:337 | Fibrodysplasia ossificans progressiva | HP:0040282 - Frequent | | | 49 | | |
HP:0010161 | HP:0010185 | Aplasia/Hypoplasia of the distal phalanges of the toes | 2 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | . | | | 219 | | |
HP:0010161 | HP:0010746 | Hypoplasia of the phalanges of the toes | 2 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0010161 | HP:0010383 | Aplasia/Hypoplasia of the phalanges of the 5th toe | 2 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0010161 | HP:0010392 | Abnormality of the distal phalanx of the 5th toe | 2 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0010161 | HP:0010185 | Aplasia/Hypoplasia of the distal phalanges of the toes | 2 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | | | | | | |
HP:0010161 | HP:0001857 | Short distal phalanx of toe | 2 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | HP:0040282 - Frequent | | | | | |
HP:0010161 | HP:0010347 | Aplasia/Hypoplasia of the phalanges of the 2nd toe | 2 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0010161 | HP:0010064 | Symphalangism affecting the phalanges of the hallux | 2 | BHLHA9 CL E G H | 727857 | 35126 | OMIM:609432 | Syndactyly, mesoaxial synostotic, with phalangeal reduction | . | | | 4 | | |
HP:0010161 | HP:0010059 | Broad hallux phalanx | 2 | BMP2 CL E G H | 650 | 1069 | ORPHA:261295 | 20p12.3 microdeletion syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0010161 | HP:0010745 | Aplasia of the phalanges of the toes | 2 | BMPR1B CL E G H | 658 | 1077 | ORPHA:2098 | Acromesomelic dysplasia, Grebe type | | | | 90 | | |
HP:0010161 | HP:0010066 | Duplication of phalanx of hallux | 2 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | HP:0040282 - Frequent | | | 27 | | |
HP:0010161 | HP:0010053 | Abnormality of the distal phalanx of the hallux | 2 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | |
HP:0010161 | HP:0010193 | Duplication of distal phalanx of toe | 2 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | |
HP:0010161 | HP:0010066 | Duplication of phalanx of hallux | 2 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | |
HP:0010161 | HP:0001842 | Foot acroosteolysis | 2 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | . | | | 749 | | |
HP:0010161 | HP:0010059 | Broad hallux phalanx | 2 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0010161 | HP:0010066 | Duplication of phalanx of hallux | 2 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0010161 | HP:0010059 | Broad hallux phalanx | 2 | CTCF CL E G H | 10664 | 13723 | ORPHA:363611 | CTCF-related neurodevelopmental disorder | HP:0040282 - Frequent | | | 20 | | |
HP:0010161 | HP:0010059 | Broad hallux phalanx | 2 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0010161 | HP:0010059 | Broad hallux phalanx | 2 | EFNB1 CL E G H | 1947 | 3226 | ORPHA:1520 | Craniofrontonasal dysplasia | HP:0040282 - Frequent | | | 27 | | |
HP:0010161 | HP:0010745 | Aplasia of the phalanges of the toes | 2 | EOGT CL E G H | 285203 | 28526 | OMIM:615297 | Adams-Oliver syndrome 4 | | | | 4 | | |
HP:0010161 | HP:0010381 | Abnormality of the middle phalanx of the 4th toe | 2 | EOGT CL E G H | 285203 | 28526 | OMIM:615297 | Adams-Oliver syndrome 4 | | | | 4 | | |
HP:0010161 | HP:0010359 | Aplasia/Hypoplasia of the phalanges of the 3rd toe | 2 | EOGT CL E G H | 285203 | 28526 | OMIM:615297 | Adams-Oliver syndrome 4 | | | | 4 | | |
HP:0010161 | HP:0010194 | Aplasia/Hypoplasia of the middle phalanges of the toes | 2 | EOGT CL E G H | 285203 | 28526 | OMIM:615297 | Adams-Oliver syndrome 4 | | | | 4 | | |
HP:0010161 | HP:0010371 | Aplasia/Hypoplasia of the phalanges of the 4th toe | 2 | EOGT CL E G H | 285203 | 28526 | OMIM:615297 | Adams-Oliver syndrome 4 | | | | 4 | | |
HP:0010161 | HP:0010185 | Aplasia/Hypoplasia of the distal phalanges of the toes | 2 | EOGT CL E G H | 285203 | 28526 | OMIM:615297 | Adams-Oliver syndrome 4 | | | | 4 | | |
HP:0010161 | HP:0010369 | Abnormality of the middle phalanx of the 3rd toe | 2 | EOGT CL E G H | 285203 | 28526 | OMIM:615297 | Adams-Oliver syndrome 4 | | | | 4 | | |
HP:0010161 | HP:0010066 | Duplication of phalanx of hallux | 2 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0010161 | HP:0010059 | Broad hallux phalanx | 2 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0010161 | HP:0003795 | Short middle phalanx of toe | 2 | FGFR1 CL E G H | 2260 | 3688 | OMIM:101600 | Pfeiffer syndrome | . | | | 172 | | |
HP:0010161 | HP:0010059 | Broad hallux phalanx | 2 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:93258 | Pfeiffer syndrome type 1 | HP:0040281 - Very frequent | | | 172 | | |
HP:0010161 | HP:0010059 | Broad hallux phalanx | 2 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:168624 | Familial scaphocephaly syndrome, McGillivray type | HP:0040283 - Occasional | | | 175 | | |
HP:0010161 | HP:0010059 | Broad hallux phalanx | 2 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1540 | Jackson-Weiss syndrome | HP:0040281 - Very frequent | | | 175 | | |
HP:0010161 | HP:0003795 | Short middle phalanx of toe | 2 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101600 | Pfeiffer syndrome | . | | | 175 | | |
HP:0010161 | HP:0010059 | Broad hallux phalanx | 2 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:93258 | Pfeiffer syndrome type 1 | HP:0040281 - Very frequent | | | 175 | | |
HP:0010161 | HP:0010059 | Broad hallux phalanx | 2 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:93259 | Pfeiffer syndrome type 2 | HP:0040281 - Very frequent | | | 175 | | |
HP:0010161 | HP:0010059 | Broad hallux phalanx | 2 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:93260 | Pfeiffer syndrome type 3 | HP:0040281 - Very frequent | | | 175 | | |
HP:0010161 | HP:0003795 | Short middle phalanx of toe | 2 | FGFR3 CL E G H | 2261 | 3690 | OMIM:602849 | Muenke syndrome | . | | | 145 | | |
HP:0010161 | HP:0010185 | Aplasia/Hypoplasia of the distal phalanges of the toes | 2 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0010161 | HP:0010052 | Abnormal morphology of the proximal phalanx of the hallux | 2 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0010161 | HP:0010053 | Abnormality of the distal phalanx of the hallux | 2 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0010161 | HP:0001857 | Short distal phalanx of toe | 2 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0010161 | HP:0010746 | Hypoplasia of the phalanges of the toes | 2 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0010161 | HP:0010745 | Aplasia of the phalanges of the toes | 2 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0010161 | HP:0010194 | Aplasia/Hypoplasia of the middle phalanges of the toes | 2 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0010161 | HP:0010058 | Aplasia/Hypoplasia of the phalanges of the hallux | 2 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0010161 | HP:0010059 | Broad hallux phalanx | 2 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0010161 | HP:0010059 | Broad hallux phalanx | 2 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251071 | 8p23.1 microdeletion syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0010161 | HP:0010745 | Aplasia of the phalanges of the toes | 2 | GDF5 CL E G H | 8200 | 4220 | ORPHA:2098 | Acromesomelic dysplasia, Grebe type | | | | 52 | | |
HP:0010161 | HP:0010059 | Broad hallux phalanx | 2 | GLI3 CL E G H | 2737 | 4319 | OMIM:175700 | Greig cephalopolysyndactyly syndrome | HP:0040282 - Frequent | | | 270 | | |
HP:0010161 | HP:0010059 | Broad hallux phalanx | 2 | GLI3 CL E G H | 2737 | 4319 | ORPHA:380 | Greig cephalopolysyndactyly syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0010161 | HP:0010185 | Aplasia/Hypoplasia of the distal phalanges of the toes | 2 | GPC4 CL E G H | 2239 | 4452 | ORPHA:2662 | Keipert syndrome | HP:0040281 - Very frequent | | | | | |
HP:0010161 | HP:0010059 | Broad hallux phalanx | 2 | GPC4 CL E G H | 2239 | 4452 | ORPHA:2662 | Keipert syndrome | HP:0040281 - Very frequent | | | | | |
HP:0010161 | HP:0010058 | Aplasia/Hypoplasia of the phalanges of the hallux | 2 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:93387 | Brachydactyly type E | | | | 25 | | |
HP:0010161 | HP:0010053 | Abnormality of the distal phalanx of the hallux | 2 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:93387 | Brachydactyly type E | | | | 25 | | |
HP:0010161 | HP:0010185 | Aplasia/Hypoplasia of the distal phalanges of the toes | 2 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:93387 | Brachydactyly type E | | | | 25 | | |
HP:0010161 | HP:0010186 | Broad distal phalanx of the toes | 2 | HOXD13 CL E G H | 3239 | 5136 | OMIM:113200 | Brachydactyly, type D | | | | 25 | | |
HP:0010161 | HP:0010053 | Abnormality of the distal phalanx of the hallux | 2 | HOXD13 CL E G H | 3239 | 5136 | OMIM:113200 | Brachydactyly, type D | | | | 25 | | |
HP:0010161 | HP:0010059 | Broad hallux phalanx | 2 | HOXD13 CL E G H | 3239 | 5136 | OMIM:113200 | Brachydactyly, type D | | | | 25 | | |
HP:0010161 | HP:0003795 | Short middle phalanx of toe | 2 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186000 | Synpolydactyly 1 | | | | 25 | | |
HP:0010161 | HP:0010186 | Broad distal phalanx of the toes | 2 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0010161 | HP:0010066 | Duplication of phalanx of hallux | 2 | HYLS1 CL E G H | 219844 | 26558 | OMIM:236680 | Hydrolethalus syndrome 1 | | | | 31 | | |
HP:0010161 | HP:0032612 | Triphalangeal hallux | 2 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | | | | 93 | | |
HP:0010161 | HP:0010746 | Hypoplasia of the phalanges of the toes | 2 | IHH CL E G H | 3549 | 5956 | OMIM:112500 | Brachydactyly, type A1 | | | | 44 | | |
HP:0010161 | HP:0010058 | Aplasia/Hypoplasia of the phalanges of the hallux | 2 | IHH CL E G H | 3549 | 5956 | OMIM:112500 | Brachydactyly, type A1 | | | | 44 | | |
HP:0010161 | HP:0010052 | Abnormal morphology of the proximal phalanx of the hallux | 2 | IHH CL E G H | 3549 | 5956 | OMIM:112500 | Brachydactyly, type A1 | | | | 44 | | |
HP:0010161 | HP:0010194 | Aplasia/Hypoplasia of the middle phalanges of the toes | 2 | IHH CL E G H | 3549 | 5956 | OMIM:112500 | Brachydactyly, type A1 | | | | 44 | | |
HP:0010161 | HP:0001857 | Short distal phalanx of toe | 2 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | . | | | 13 | | |
HP:0010161 | HP:0010185 | Aplasia/Hypoplasia of the distal phalanges of the toes | 2 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | | | | 13 | | |
HP:0010161 | HP:0010059 | Broad hallux phalanx | 2 | KCNJ8 CL E G H | 3764 | 6269 | ORPHA:1517 | Hypertrichotic osteochondrodysplasia, Cantu type | HP:0040282 - Frequent | | | 23 | | |
HP:0010161 | HP:0010356 | Abnormality of the distal phalanx of the 2nd toe | 2 | KCNN3 CL E G H | 3782 | 6292 | OMIM:618658 | ZIMMERMANN-LABAND SYNDROME 3; ZLS3 | | | | 7 | | |
HP:0010161 | HP:0010392 | Abnormality of the distal phalanx of the 5th toe | 2 | KCNN3 CL E G H | 3782 | 6292 | OMIM:618658 | ZIMMERMANN-LABAND SYNDROME 3; ZLS3 | | | | 7 | | |
HP:0010161 | HP:0010185 | Aplasia/Hypoplasia of the distal phalanges of the toes | 2 | KCNN3 CL E G H | 3782 | 6292 | OMIM:618658 | ZIMMERMANN-LABAND SYNDROME 3; ZLS3 | | | | 7 | | |
HP:0010161 | HP:0010347 | Aplasia/Hypoplasia of the phalanges of the 2nd toe | 2 | KCNN3 CL E G H | 3782 | 6292 | OMIM:618658 | ZIMMERMANN-LABAND SYNDROME 3; ZLS3 | | | | 7 | | |
HP:0010161 | HP:0010745 | Aplasia of the phalanges of the toes | 2 | KCNN3 CL E G H | 3782 | 6292 | OMIM:618658 | ZIMMERMANN-LABAND SYNDROME 3; ZLS3 | | | | 7 | | |
HP:0010161 | HP:0010383 | Aplasia/Hypoplasia of the phalanges of the 5th toe | 2 | KCNN3 CL E G H | 3782 | 6292 | OMIM:618658 | ZIMMERMANN-LABAND SYNDROME 3; ZLS3 | | | | 7 | | |
HP:0010161 | HP:0001842 | Foot acroosteolysis | 2 | KIF1A CL E G H | 547 | 888 | ORPHA:970 | Hereditary sensory and autonomic neuropathy type 2 | HP:0040281 - Very frequent | | | 276 | | |
HP:0010161 | HP:0001842 | Foot acroosteolysis | 2 | KIF1A CL E G H | 547 | 888 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 276 | | |
HP:0010161 | HP:0010066 | Duplication of phalanx of hallux | 2 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0010161 | HP:0010066 | Duplication of phalanx of hallux | 2 | LMBR1 CL E G H | 64327 | 13243 | OMIM:174500 | Polydactyly, preaxial II | HP:0040282 - Frequent | | | 106 | | |
HP:0010161 | HP:0001842 | Foot acroosteolysis | 2 | LMNA CL E G H | 4000 | 6636 | ORPHA:280365 | Autosomal semi-dominant severe lipodystrophic laminopathy | | | | 645 | | |
HP:0010161 | HP:0010189 | Osteolytic defects of the distal phalanges of the toes | 2 | LMNA CL E G H | 4000 | 6636 | ORPHA:280365 | Autosomal semi-dominant severe lipodystrophic laminopathy | | | | 645 | | |
HP:0010161 | HP:0010745 | Aplasia of the phalanges of the toes | 2 | LMNA CL E G H | 4000 | 6636 | ORPHA:2229 | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | | | | 645 | | |
HP:0010161 | HP:0010359 | Aplasia/Hypoplasia of the phalanges of the 3rd toe | 2 | LMNA CL E G H | 4000 | 6636 | ORPHA:2229 | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | | | | 645 | | |
HP:0010161 | HP:0001842 | Foot acroosteolysis | 2 | LMNA CL E G H | 4000 | 6636 | OMIM:248370 | Mandibuloacral dysplasia | | | | 645 | | |
HP:0010161 | HP:0010189 | Osteolytic defects of the distal phalanges of the toes | 2 | LMNA CL E G H | 4000 | 6636 | OMIM:248370 | Mandibuloacral dysplasia | | | | 645 | | |
HP:0010161 | HP:0001842 | Foot acroosteolysis | 2 | LMNA CL E G H | 4000 | 6636 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | | | | 645 | | |
HP:0010161 | HP:0010189 | Osteolytic defects of the distal phalanges of the toes | 2 | LMNA CL E G H | 4000 | 6636 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | | | | 645 | | |
HP:0010161 | HP:0010185 | Aplasia/Hypoplasia of the distal phalanges of the toes | 2 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:488232 | Split-foot malformation-mesoaxial polydactyly syndrome | | | | 2 | | |
HP:0010161 | HP:0010353 | Second toe symphalangism | 2 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:488232 | Split-foot malformation-mesoaxial polydactyly syndrome | | | | 2 | | |
HP:0010161 | HP:0010359 | Aplasia/Hypoplasia of the phalanges of the 3rd toe | 2 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:488232 | Split-foot malformation-mesoaxial polydactyly syndrome | | | | 2 | | |
HP:0010161 | HP:0010378 | Triangular shaped phalanges of the 4th toe | 2 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:488232 | Split-foot malformation-mesoaxial polydactyly syndrome | | | | 2 | | |
HP:0010161 | HP:0010347 | Aplasia/Hypoplasia of the phalanges of the 2nd toe | 2 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:488232 | Split-foot malformation-mesoaxial polydactyly syndrome | | | | 2 | | |
HP:0010161 | HP:0010383 | Aplasia/Hypoplasia of the phalanges of the 5th toe | 2 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:488232 | Split-foot malformation-mesoaxial polydactyly syndrome | | | | 2 | | |
HP:0010161 | HP:0010371 | Aplasia/Hypoplasia of the phalanges of the 4th toe | 2 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:488232 | Split-foot malformation-mesoaxial polydactyly syndrome | | | | 2 | | |
HP:0010161 | HP:0010058 | Aplasia/Hypoplasia of the phalanges of the hallux | 2 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:488232 | Split-foot malformation-mesoaxial polydactyly syndrome | | | | 2 | | |
HP:0010161 | HP:0010358 | Abnormal morphology of the proximal phalanx of the 2nd toe | 2 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:488232 | Split-foot malformation-mesoaxial polydactyly syndrome | | | | 2 | | |
HP:0010161 | HP:0010356 | Abnormality of the distal phalanx of the 2nd toe | 2 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:488232 | Split-foot malformation-mesoaxial polydactyly syndrome | | | | 2 | | |
HP:0010161 | HP:0010053 | Abnormality of the distal phalanx of the hallux | 2 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:488232 | Split-foot malformation-mesoaxial polydactyly syndrome | | | | 2 | | |
HP:0010161 | HP:0010186 | Broad distal phalanx of the toes | 2 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0010161 | HP:0010189 | Osteolytic defects of the distal phalanges of the toes | 2 | MTX2 CL E G H | 10651 | 7506 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | | | | | | |
HP:0010161 | HP:0001842 | Foot acroosteolysis | 2 | MTX2 CL E G H | 10651 | 7506 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | | | | | | |
HP:0010161 | HP:0010066 | Duplication of phalanx of hallux | 2 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | | | | 101 | | |
HP:0010161 | HP:0010185 | Aplasia/Hypoplasia of the distal phalanges of the toes | 2 | NOG CL E G H | 9241 | 7866 | ORPHA:140908 | Brachydactyly type B2 | | | | 22 | | |
HP:0010161 | HP:0001857 | Short distal phalanx of toe | 2 | NOG CL E G H | 9241 | 7866 | ORPHA:140908 | Brachydactyly type B2 | HP:0040281 - Very frequent | | | 22 | | |
HP:0010161 | HP:0010194 | Aplasia/Hypoplasia of the middle phalanges of the toes | 2 | NOG CL E G H | 9241 | 7866 | OMIM:611377 | Brachydactyly, type B2 | | | | 22 | | |
HP:0010161 | HP:0010185 | Aplasia/Hypoplasia of the distal phalanges of the toes | 2 | NOG CL E G H | 9241 | 7866 | OMIM:611377 | Brachydactyly, type B2 | | | | 22 | | |
HP:0010161 | HP:0010366 | Triangular shaped phalanges of the 3rd toe | 2 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0010161 | HP:0010390 | Triangular shaped phalanges of the 5th toe | 2 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0010161 | HP:0010746 | Hypoplasia of the phalanges of the toes | 2 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0010161 | HP:0010389 | Symphalangism affecting the phalanges of the 5th toe | 2 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0010161 | HP:0010377 | Symphalangism affecting the phalanges of the 4th toe | 2 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0010161 | HP:0010194 | Aplasia/Hypoplasia of the middle phalanges of the toes | 2 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0010161 | HP:0010383 | Aplasia/Hypoplasia of the phalanges of the 5th toe | 2 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0010161 | HP:0010393 | Abnormality of the middle phalanx of the 5th toe | 2 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0010161 | HP:0100237 | Proximal foot symphalangism | 2 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0010161 | HP:0010194 | Aplasia/Hypoplasia of the middle phalanges of the toes | 2 | NOG CL E G H | 9241 | 7866 | OMIM:185800 | Symphalangism, proximal, 1A | HP:0040283 - Occasional | | | 22 | | |
HP:0010161 | HP:0001842 | Foot acroosteolysis | 2 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:102500 | Hajdu-Cheney syndrome | . | | | 138 | | |
HP:0010161 | HP:0010059 | Broad hallux phalanx | 2 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0010161 | HP:0001857 | Short distal phalanx of toe | 2 | PIGF CL E G H | 5281 | 8962 | OMIM:619356 | ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS | | | | | | |
HP:0010161 | HP:0010185 | Aplasia/Hypoplasia of the distal phalanges of the toes | 2 | PIGF CL E G H | 5281 | 8962 | OMIM:619356 | ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS | | | | | | |
HP:0010161 | HP:0010185 | Aplasia/Hypoplasia of the distal phalanges of the toes | 2 | PTHLH CL E G H | 5744 | 9607 | ORPHA:93387 | Brachydactyly type E | | | | 6 | | |
HP:0010161 | HP:0010058 | Aplasia/Hypoplasia of the phalanges of the hallux | 2 | PTHLH CL E G H | 5744 | 9607 | ORPHA:93387 | Brachydactyly type E | | | | 6 | | |
HP:0010161 | HP:0010053 | Abnormality of the distal phalanx of the hallux | 2 | PTHLH CL E G H | 5744 | 9607 | ORPHA:93387 | Brachydactyly type E | | | | 6 | | |
HP:0010161 | HP:0010052 | Abnormal morphology of the proximal phalanx of the hallux | 2 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0010161 | HP:0010202 | Duplication of middle phalanx of toe | 2 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0010161 | HP:0010194 | Aplasia/Hypoplasia of the middle phalanges of the toes | 2 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0010161 | HP:0010066 | Duplication of phalanx of hallux | 2 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0010161 | HP:0001842 | Foot acroosteolysis | 2 | RETREG1 CL E G H | 54463 | 25964 | ORPHA:970 | Hereditary sensory and autonomic neuropathy type 2 | HP:0040281 - Very frequent | | | 54 | | |
HP:0010161 | HP:0001842 | Foot acroosteolysis | 2 | RETREG1 CL E G H | 54463 | 25964 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 54 | | |
HP:0010161 | HP:0010185 | Aplasia/Hypoplasia of the distal phalanges of the toes | 2 | RIPK4 CL E G H | 54101 | 496 | ORPHA:1234 | Bartsocas-Papas syndrome | HP:0040281 - Very frequent | | | 69 | | |
HP:0010161 | HP:0010059 | Broad hallux phalanx | 2 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040282 - Frequent | | | 120 | | |
HP:0010161 | HP:0010185 | Aplasia/Hypoplasia of the distal phalanges of the toes | 2 | ROR2 CL E G H | 4920 | 10257 | OMIM:113000 | Brachydactyly, type B1 | | | | 120 | | |
HP:0010161 | HP:0010059 | Broad hallux phalanx | 2 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | HP:0040283 - Occasional | | | 124 | | |
HP:0010161 | HP:0010059 | Broad hallux phalanx | 2 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | HP:0040282 - Frequent | | | 86 | | |
HP:0010161 | HP:0010059 | Broad hallux phalanx | 2 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251019 | 2q32q33 microdeletion syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0010161 | HP:0001842 | Foot acroosteolysis | 2 | SCN9A CL E G H | 6335 | 10597 | ORPHA:970 | Hereditary sensory and autonomic neuropathy type 2 | HP:0040281 - Very frequent | | | 318 | | |
HP:0010161 | HP:0001842 | Foot acroosteolysis | 2 | SCN9A CL E G H | 6335 | 10597 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 318 | | |
HP:0010161 | HP:0032612 | Triphalangeal hallux | 2 | SMO CL E G H | 6608 | 11119 | OMIM:601707 | Curry-Jones syndrome | | | | 22 | | |
HP:0010161 | HP:0010059 | Broad hallux phalanx | 2 | SUMF1 CL E G H | 285362 | 20376 | ORPHA:585 | Multiple sulfatase deficiency | HP:0040282 - Frequent | | | 80 | | |
HP:0010161 | HP:0010347 | Aplasia/Hypoplasia of the phalanges of the 2nd toe | 2 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | HP:0040282 - Frequent | | | 271 | | |
HP:0010161 | HP:0010053 | Abnormality of the distal phalanx of the hallux | 2 | TBR1 CL E G H | 10716 | 11590 | ORPHA:1617 | 2q24 microdeletion syndrome | | | | 1 | | |
HP:0010161 | HP:0010060 | Bullet-shaped hallux phalanx | 2 | TBR1 CL E G H | 10716 | 11590 | ORPHA:1617 | 2q24 microdeletion syndrome | | | | 1 | | |
HP:0010161 | HP:0010187 | Bullet-shaped distal toe phalanx | 2 | TBR1 CL E G H | 10716 | 11590 | ORPHA:1617 | 2q24 microdeletion syndrome | | | | 1 | | |
HP:0010161 | HP:0001857 | Short distal phalanx of toe | 2 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606835 | Digital arthropathy-brachydactyly, familial | . | | | 214 | | |
HP:0010161 | HP:0003795 | Short middle phalanx of toe | 2 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606835 | Digital arthropathy-brachydactyly, familial | . | | | 214 | | |
HP:0010161 | HP:0010185 | Aplasia/Hypoplasia of the distal phalanges of the toes | 2 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606835 | Digital arthropathy-brachydactyly, familial | | | | 214 | | |
HP:0010161 | HP:0003795 | Short middle phalanx of toe | 2 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:85169 | Familial digital arthropathy-brachydactyly | | | | 214 | | |
HP:0010161 | HP:0010185 | Aplasia/Hypoplasia of the distal phalanges of the toes | 2 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:85169 | Familial digital arthropathy-brachydactyly | | | | 214 | | |
HP:0010161 | HP:0001857 | Short distal phalanx of toe | 2 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:85169 | Familial digital arthropathy-brachydactyly | | | | 214 | | |
HP:0010161 | HP:0010066 | Duplication of phalanx of hallux | 2 | TWIST1 CL E G H | 7291 | 12428 | OMIM:180750 | Robinow-Sorauf syndrome | . | | | 18 | | |
HP:0010161 | HP:0010194 | Aplasia/Hypoplasia of the middle phalanges of the toes | 2 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0010161 | HP:0010058 | Aplasia/Hypoplasia of the phalanges of the hallux | 2 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0010161 | HP:0010052 | Abnormal morphology of the proximal phalanx of the hallux | 2 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0010161 | HP:0010053 | Abnormality of the distal phalanx of the hallux | 2 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0010161 | HP:0010185 | Aplasia/Hypoplasia of the distal phalanges of the toes | 2 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0010161 | HP:0010746 | Hypoplasia of the phalanges of the toes | 2 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0010161 | HP:0010745 | Aplasia of the phalanges of the toes | 2 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0010161 | HP:0001857 | Short distal phalanx of toe | 2 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0010161 | HP:0010746 | Hypoplasia of the phalanges of the toes | 2 | WLS CL E G H | 79971 | 30238 | OMIM:619648 | ZAKI SYNDROME; ZKS | | | | | | |
HP:0010161 | HP:0001842 | Foot acroosteolysis | 2 | WNK1 CL E G H | 65125 | 14540 | ORPHA:970 | Hereditary sensory and autonomic neuropathy type 2 | HP:0040281 - Very frequent | | | 199 | | |
HP:0010161 | HP:0001842 | Foot acroosteolysis | 2 | WNK1 CL E G H | 65125 | 14540 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 199 | | |
HP:0010161 | HP:0010189 | Osteolytic defects of the distal phalanges of the toes | 2 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:608612 | Mandibuloacral dysplasia with type B lipodystrophy | | | | 83 | | |
HP:0010161 | HP:0010189 | Osteolytic defects of the distal phalanges of the toes | 2 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:90154 | Mandibuloacral dysplasia with type B lipodystrophy | | | | 83 | | |
HP:0010161 | HP:0001842 | Foot acroosteolysis | 2 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:608612 | Mandibuloacral dysplasia with type B lipodystrophy | | | | 83 | | |
HP:0010161 | HP:0001842 | Foot acroosteolysis | 2 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:90154 | Mandibuloacral dysplasia with type B lipodystrophy | | | | 83 | | |
HP:0010161 | HP:0100460 | Osteolytic defects of the distal phalanx of the 5th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010087 | Bullet-shaped proximal phalanx of the hallux | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100446 | Curved proximal phalanx of the 3rd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100376 | Aplasia/hypoplasia of the proximal phalanx of the 4th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0200113 | Aphalangy of hands and feet | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010408 | Osteolytic defects of the middle phalanx of the 2nd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100936 | Sclerosis of the middle phalanx of the 3rd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100470 | Symphalangism affecting the middle phalanx of the 3rd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100433 | Broad distal phalanx of the 5th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100401 | Duplication of the middle phalanx of the 3rd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010395 | Aplasia/hypoplasia of the proximal phalanx of the 2nd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100489 | Proximal/middle symphalangism of 2nd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010092 | Triangular shaped proximal phalanx of the hallux | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100439 | Bullet-shaped proximal phalanx of the 5th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0041187 | Fractured proximal phalanx of pedal digit 1 | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010414 | Broad distal phalanx of the 2nd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100942 | Sclerosis of the distal phalanx of the 5th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100478 | Symphalangism affecting the distal phalanx of the 5th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100453 | Osteolytic defects of the middle phalanx of the 4th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010080 | Osteolytic defects of the distal phalanx of the hallux | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100426 | Broad middle phalanx of the 4th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100485 | Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100459 | Osteolytic defects of the distal phalanx of the 4th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010086 | Broad proximal phalanx of the hallux | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100445 | Curved middle phalanx of the 5th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100375 | Aplasia/hypoplasia of the proximal phalanx of the 3rd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010419 | Symphalangism affecting the distal phalanx of the 2nd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010407 | Curved middle phalanx of the 2nd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100935 | Sclerosis of the middle phalanx of the 2nd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010063 | Patchy sclerosis of hallux phalanx | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100432 | Broad distal phalanx of the 4th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100400 | Duplication of the distal phalanx of the 5th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100463 | Patchy sclerosis of the middle phalanx of the 5th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010091 | Symphalangism affecting the proximal phalanx of the hallux | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100406 | Duplication of the proximal phalanx of the 5th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010412 | Duplication of the middle phalanx of the 2nd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100941 | Sclerosis of the distal phalanx of the 4th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100452 | Osteolytic defects of the middle phalanx of the 3rd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010079 | Curved distal phalanx of the hallux | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100438 | Bullet-shaped proximal phalanx of the 4th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100425 | Broad middle phalanx of the 3rd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010431 | Short phalanx of the 2nd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010400 | Patchy sclerosis of the proximal phalanx of the 2nd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100466 | Patchy sclerosis of the proximal phalanx of the 5th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010208 | Patchy sclerosis of proximal toe phalanx | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100458 | Osteolytic defects of the distal phalanx of the 3rd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010083 | Triangular shaped distal phalanx of the hallux | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100444 | Curved middle phalanx of the 4th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100370 | Aplasia/Hypoplasia of the distal phalanx of the 4th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100934 | Sclerosis of the proximal phalanx of the 5th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100469 | Patchy sclerosis of the distal phalanx of the 5th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100431 | Broad distal phalanx of the 3rd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100399 | Duplication of the distal phalanx of the 4th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010406 | Bullet-shaped middle phalanx of the 2nd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100488 | Synostosis of the proximal phalanx of the hallux with the 1st metatarsal | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100405 | Duplication of the proximal phalanx of the 4th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0041186 | Fractured middle phalanx of pedal digit 3 | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010411 | Triangular shaped middle phalanx of the 2nd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100940 | Sclerosis of the distal phalanx of the 3rd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100477 | Symphalangism affecting the distal phalanx of the 4th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100451 | Curved distal phalanx of the 5th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010074 | Triangular shaped 1st metatarsal | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100437 | Bullet-shaped proximal phalanx of the 3rd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010429 | Complete duplication of the phalanges of the 2nd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010399 | Osteolytic defects of the proximal phalanx of the 2nd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100457 | Osteolytic defects of the proximal phalanx of the 5th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100443 | Curved middle phalanx of the 3rd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100369 | Aplasia/Hypoplasia of the distal phalanx of the 3rd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010418 | Patchy sclerosis of the distal phalanx of the 2nd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100484 | Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100933 | Sclerosis of the proximal phalanx of the 4th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010364 | Patchy sclerosis of 3rd toe phalanx | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100430 | Broad proximal phalanx of the 5th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100398 | Duplication of the distal phalanx of the 3rd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010405 | Broad middle phalanx of the 2nd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010388 | Patchy sclerosis of 5th toe phalanx | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100487 | Triangular shaped distal phalanx of the 5th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100462 | Patchy sclerosis of the middle phalanx of the 4th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010090 | Patchy sclerosis of the proximal phalanx of the hallux | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0041181 | Fractured distal phalanx of pedal digit 3 | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010410 | Symphalangism affecting the middle phalanx of the 2nd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100939 | Sclerosis of the distal phalanx of the 2nd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010199 | Patchy sclerosis of middle toe phalanx | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100450 | Curved distal phalanx of the 4th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100436 | Bullet-shaped middle phalanx of the 5th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100404 | Duplication of the proximal phalanx of the 3rd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010428 | Partial duplication of phalanx of the 2nd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010398 | Curved proximal phalanx of the 2nd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100465 | Patchy sclerosis of the proximal phalanx of the 4th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100456 | Osteolytic defects of the proximal phalanx of the 4th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010082 | Symphalangism affecting the distal phalanx of the hallux | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100442 | Bullet-shaped distal phalanx of the 5th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100367 | Short phalanx of the 4th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010417 | Osteolytic defects of the distal phalanx of the 2nd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100945 | Sclerosis of the 1st metatarsal | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100468 | Patchy sclerosis of the distal phalanx of the 4th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010190 | Patchy sclerosis of distal toe phalanx | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100429 | Broad proximal phalanx of the 4th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010404 | Aplasia/Hypoplasia of the middle phalanx of the 2nd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100932 | Sclerosis of the proximal phalanx of the 3rd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010089 | Osteolytic defects of the proximal phalanx of the hallux | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010421 | Duplication of the distal phalanx of the 2nd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100938 | Sclerosis of the middle phalanx of the 5th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100476 | Symphalangism affecting the distal phalanx of the 3rd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100449 | Curved distal phalanx of the 3rd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010072 | Patchy sclerosis of the 1st metatarsal | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100435 | Bullet-shaped middle phalanx of the 4th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100403 | Duplication of the middle phalanx of the 5th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100388 | Aplasia of the proximal phalanges of the toes | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010397 | Bullet-shaped proximal phalanx of the 2nd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100441 | Bullet-shaped distal phalanx of the 4th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100366 | Short phalanx of the 3rd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010416 | Curved distal phalanx of the 2nd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100944 | Sclerosis of the distal phalanx of the hallux | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100480 | Proximal/middle symphalangism of 3rd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100455 | Osteolytic defects of the proximal phalanx of the 3rd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100428 | Broad proximal phalanx of the 3rd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010403 | Duplication of the proximal phalanx of the 2nd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100931 | Sclerosis of the proximal phalanx of the 2nd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100486 | Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100461 | Patchy sclerosis of the middle phalanx of the 3rd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010088 | Curved proximal phalanx of the hallux | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100447 | Curved proximal phalanx of the 4th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100377 | Aplasia/hypoplasia of the proximal phalanx of the 5th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010420 | Triangular shaped distal phalanx of the 2nd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0041180 | Fractured distal phalanx of pedal digit 1 | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010409 | Patchy sclerosis of the middle phalanx of the 2nd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100937 | Sclerosis of the middle phalanx of the 4th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100473 | Symphalangism affecting the proximal phalanx of the 3rd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100448 | Curved proximal phalanx of the 5th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010071 | Osteolytic defects of the 1st metatarsal | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100434 | Bullet-shaped middle phalanx of the 3rd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100402 | Duplication of the middle phalanx of the 4th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010396 | Broad proximal phalanx of the 2nd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010352 | Patchy sclerosis of 2nd toe phalanx | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100464 | Patchy sclerosis of the proximal phalanx of the 3rd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100440 | Bullet-shaped distal phalanx of the 3rd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010415 | Bullet-shaped distal phalanx of the 2nd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100943 | Sclerosis of the proximal phalanx of the hallux | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010376 | Patchy sclerosis of 4th toe phalanx | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100454 | Osteolytic defects of the middle phalanx of the 5th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010081 | Patchy sclerosis of the distal phalanx of the hallux | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100427 | Broad middle phalanx of the 5th toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010402 | Triangular shaped proximal phalanx of the 2nd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100467 | Patchy sclerosis of the distal phalanx of the 3rd toe | 3 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100371 | Aplasia/Hypoplasia of the distal phalanx of the 5th toe | 3 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0010161 | HP:0100368 | Short phalanx of the 5th toe | 3 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0010161 | HP:0001857 | Short distal phalanx of toe | 3 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | HP:0040282 - Frequent | | | | | |
HP:0010161 | HP:0100387 | Aplasia of the middle phalanges of the toes | 3 | BMPR1B CL E G H | 658 | 1077 | ORPHA:2098 | Acromesomelic dysplasia, Grebe type | HP:0040281 - Very frequent | | | 90 | | |
HP:0010161 | HP:0010101 | Partial duplication of the phalanges of the hallux | 3 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | |
HP:0010161 | HP:0010084 | Duplication of the distal phalanx of the hallux | 3 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | |
HP:0010161 | HP:0100372 | Aplasia/Hypoplasia of the middle phalanx of the 3rd toe | 3 | EOGT CL E G H | 285203 | 28526 | OMIM:615297 | Adams-Oliver syndrome 4 | | | | 4 | | |
HP:0010161 | HP:0100362 | Aplasia of the phalanges of the 3rd toe | 3 | EOGT CL E G H | 285203 | 28526 | OMIM:615297 | Adams-Oliver syndrome 4 | | | | 4 | | |
HP:0010161 | HP:0100373 | Aplasia/Hypoplasia of the middle phalanx of the 4th toe | 3 | EOGT CL E G H | 285203 | 28526 | OMIM:615297 | Adams-Oliver syndrome 4 | | | | 4 | | |
HP:0010161 | HP:0100387 | Aplasia of the middle phalanges of the toes | 3 | EOGT CL E G H | 285203 | 28526 | OMIM:615297 | Adams-Oliver syndrome 4 | | | | 4 | | |
HP:0010161 | HP:0100363 | Aplasia of the phalanges of the 4th toe | 3 | EOGT CL E G H | 285203 | 28526 | OMIM:615297 | Adams-Oliver syndrome 4 | | | | 4 | | |
HP:0010161 | HP:0010645 | Aplasia of the distal phalanges of the toes | 3 | EOGT CL E G H | 285203 | 28526 | OMIM:615297 | Adams-Oliver syndrome 4 | | | | 4 | | |
HP:0010161 | HP:0001857 | Short distal phalanx of toe | 3 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0010161 | HP:0010645 | Aplasia of the distal phalanges of the toes | 3 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0010161 | HP:0005793 | Shortening of all distal phalanges of the toes | 3 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0010161 | HP:0010111 | Short phalanx of hallux | 3 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0010161 | HP:0010085 | Aplasia/Hypoplasia of the proximal phalanx of the hallux | 3 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0010161 | HP:0010076 | Aplasia/Hypoplasia of the distal phalanx of the hallux | 3 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0010161 | HP:0010110 | Aplasia of the phalanges of the hallux | 3 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0010161 | HP:0100387 | Aplasia of the middle phalanges of the toes | 3 | GDF5 CL E G H | 8200 | 4220 | ORPHA:2098 | Acromesomelic dysplasia, Grebe type | HP:0040281 - Very frequent | | | 52 | | |
HP:0010161 | HP:0010076 | Aplasia/Hypoplasia of the distal phalanx of the hallux | 3 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:93387 | Brachydactyly type E | HP:0040283 - Occasional | | | 25 | | |
HP:0010161 | HP:0010077 | Broad distal phalanx of the hallux | 3 | HOXD13 CL E G H | 3239 | 5136 | OMIM:113200 | Brachydactyly, type D | . | | | 25 | | |
HP:0010161 | HP:0008083 | 2nd-5th toe middle phalangeal hypoplasia | 3 | HOXD13 CL E G H | 3239 | 5136 | OMIM:186000 | Synpolydactyly 1 | . | | | 25 | | |
HP:0010161 | HP:0010111 | Short phalanx of hallux | 3 | IHH CL E G H | 3549 | 5956 | OMIM:112500 | Brachydactyly, type A1 | | | | 44 | | |
HP:0010161 | HP:0010085 | Aplasia/Hypoplasia of the proximal phalanx of the hallux | 3 | IHH CL E G H | 3549 | 5956 | OMIM:112500 | Brachydactyly, type A1 | | | | 44 | | |
HP:0010161 | HP:0001857 | Short distal phalanx of toe | 3 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | . | | | 13 | | |
HP:0010161 | HP:0010430 | Aplasia of the phalanges of the 2nd toe | 3 | KCNN3 CL E G H | 3782 | 6292 | OMIM:618658 | ZIMMERMANN-LABAND SYNDROME 3; ZLS3 | | | | 7 | | |
HP:0010161 | HP:0100364 | Aplasia of the phalanges of the 5th toe | 3 | KCNN3 CL E G H | 3782 | 6292 | OMIM:618658 | ZIMMERMANN-LABAND SYNDROME 3; ZLS3 | | | | 7 | | |
HP:0010161 | HP:0010413 | Aplasia/Hypoplasia of the distal phalanx of the 2nd toe | 3 | KCNN3 CL E G H | 3782 | 6292 | OMIM:618658 | ZIMMERMANN-LABAND SYNDROME 3; ZLS3 | | | | 7 | | |
HP:0010161 | HP:0010645 | Aplasia of the distal phalanges of the toes | 3 | KCNN3 CL E G H | 3782 | 6292 | OMIM:618658 | ZIMMERMANN-LABAND SYNDROME 3; ZLS3 | | | | 7 | | |
HP:0010161 | HP:0100371 | Aplasia/Hypoplasia of the distal phalanx of the 5th toe | 3 | KCNN3 CL E G H | 3782 | 6292 | OMIM:618658 | ZIMMERMANN-LABAND SYNDROME 3; ZLS3 | | | | 7 | | |
HP:0010161 | HP:0001870 | Acroosteolysis of distal phalanges (feet) | 3 | LMNA CL E G H | 4000 | 6636 | ORPHA:280365 | Autosomal semi-dominant severe lipodystrophic laminopathy | HP:0040282 - Frequent | | | 645 | | |
HP:0010161 | HP:0100362 | Aplasia of the phalanges of the 3rd toe | 3 | LMNA CL E G H | 4000 | 6636 | ORPHA:2229 | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0010161 | HP:0001870 | Acroosteolysis of distal phalanges (feet) | 3 | LMNA CL E G H | 4000 | 6636 | OMIM:248370 | Mandibuloacral dysplasia | . | | | 645 | | |
HP:0010161 | HP:0001870 | Acroosteolysis of distal phalanges (feet) | 3 | LMNA CL E G H | 4000 | 6636 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | HP:0040281 - Very frequent | | | 645 | | |
HP:0010161 | HP:0010413 | Aplasia/Hypoplasia of the distal phalanx of the 2nd toe | 3 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:488232 | Split-foot malformation-mesoaxial polydactyly syndrome | | | | 2 | | |
HP:0010161 | HP:0010401 | Symphalangism affecting the proximal phalanx of the 2nd toe | 3 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:488232 | Split-foot malformation-mesoaxial polydactyly syndrome | | | | 2 | | |
HP:0010161 | HP:0100483 | Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal | 3 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:488232 | Split-foot malformation-mesoaxial polydactyly syndrome | | | | 2 | | |
HP:0010161 | HP:0010076 | Aplasia/Hypoplasia of the distal phalanx of the hallux | 3 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:488232 | Split-foot malformation-mesoaxial polydactyly syndrome | | | | 2 | | |
HP:0010161 | HP:0001870 | Acroosteolysis of distal phalanges (feet) | 3 | MTX2 CL E G H | 10651 | 7506 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | HP:0040281 - Very frequent | | | | | |
HP:0010161 | HP:0010100 | Complete duplication of hallux phalanx | 3 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | HP:0040282 - Frequent | | | 101 | | |
HP:0010161 | HP:0001857 | Short distal phalanx of toe | 3 | NOG CL E G H | 9241 | 7866 | ORPHA:140908 | Brachydactyly type B2 | HP:0040281 - Very frequent | | | 22 | | |
HP:0010161 | HP:0100481 | Proximal/middle symphalangism of 4th toe | 3 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0010161 | HP:0100374 | Aplasia/Hypoplasia of the middle phalanx of the 5th toe | 3 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0010161 | HP:0100474 | Symphalangism affecting the proximal phalanx of the 4th toe | 3 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0010161 | HP:0100475 | Symphalangism affecting the proximal phalanx of the 5th toe | 3 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0010161 | HP:0100482 | Proximal/middle symphalangism of 5th toe | 3 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0010161 | HP:0100472 | Symphalangism affecting the middle phalanx of the 5th toe | 3 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0010161 | HP:0100471 | Symphalangism affecting the middle phalanx of the 4th toe | 3 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0010161 | HP:0100368 | Short phalanx of the 5th toe | 3 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0010161 | HP:0001857 | Short distal phalanx of toe | 3 | PIGF CL E G H | 5281 | 8962 | OMIM:619356 | ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS | | | | | | |
HP:0010161 | HP:0010076 | Aplasia/Hypoplasia of the distal phalanx of the hallux | 3 | PTHLH CL E G H | 5744 | 9607 | ORPHA:93387 | Brachydactyly type E | HP:0040283 - Occasional | | | 6 | | |
HP:0010161 | HP:0010093 | Duplication of the proximal phalanx of the hallux | 3 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0010161 | HP:0010078 | Bullet-shaped distal phalanx of the hallux | 3 | TBR1 CL E G H | 10716 | 11590 | ORPHA:1617 | 2q24 microdeletion syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0010161 | HP:0001857 | Short distal phalanx of toe | 3 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606835 | Digital arthropathy-brachydactyly, familial | . | | | 214 | | |
HP:0010161 | HP:0005793 | Shortening of all distal phalanges of the toes | 3 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:85169 | Familial digital arthropathy-brachydactyly | HP:0040281 - Very frequent | | | 214 | | |
HP:0010161 | HP:0001857 | Short distal phalanx of toe | 3 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:85169 | Familial digital arthropathy-brachydactyly | | | | 214 | | |
HP:0010161 | HP:0006239 | Shortening of all middle phalanges of the toes | 3 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:85169 | Familial digital arthropathy-brachydactyly | HP:0040281 - Very frequent | | | 214 | | |
HP:0010161 | HP:0010076 | Aplasia/Hypoplasia of the distal phalanx of the hallux | 3 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0010161 | HP:0010110 | Aplasia of the phalanges of the hallux | 3 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0010161 | HP:0010111 | Short phalanx of hallux | 3 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0010161 | HP:0010645 | Aplasia of the distal phalanges of the toes | 3 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0010161 | HP:0005793 | Shortening of all distal phalanges of the toes | 3 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0010161 | HP:0001857 | Short distal phalanx of toe | 3 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0010161 | HP:0010085 | Aplasia/Hypoplasia of the proximal phalanx of the hallux | 3 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0010161 | HP:0001870 | Acroosteolysis of distal phalanges (feet) | 3 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:608612 | Mandibuloacral dysplasia with type B lipodystrophy | . | | | 83 | | |
HP:0010161 | HP:0001870 | Acroosteolysis of distal phalanges (feet) | 3 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:90154 | Mandibuloacral dysplasia with type B lipodystrophy | HP:0040281 - Very frequent | | | 83 | | |
HP:0010161 | HP:0100485 | Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100414 | Complete duplication of the proximal phalanx of the 4th toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010419 | Symphalangism affecting the distal phalanx of the 2nd toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100385 | Aplasia of the proximal phalanx of the 4th toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010425 | Partial duplication of the distal phalanx of the 2nd toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100463 | Patchy sclerosis of the middle phalanx of the 5th toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100420 | Partial duplication of the middle phalanx of the 4th toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100407 | Complete duplication of the distal phalanx of the 3rd toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100393 | Short middle phalanx of the 4th toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010433 | Short distal phalanx of the 2nd toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010400 | Patchy sclerosis of the proximal phalanx of the 2nd toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100466 | Patchy sclerosis of the proximal phalanx of the 5th toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010106 | Aplasia of the proximal phalanx of the hallux | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100413 | Complete duplication of the proximal phalanx of the 3rd toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100469 | Patchy sclerosis of the distal phalanx of the 5th toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100384 | Absent proximal phalanx of the 3rd toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010424 | Complete duplication of the distal phalanx of the 2nd toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100488 | Synostosis of the proximal phalanx of the hallux with the 1st metatarsal | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100419 | Partial duplication of the middle phalanx of the 3rd toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100477 | Symphalangism affecting the distal phalanx of the 4th toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100392 | Short middle phalanx of the 3rd toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010103 | Short distal phalanx of hallux | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100412 | Complete duplication of the middle phalanx of the 5th toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010418 | Patchy sclerosis of the distal phalanx of the 2nd toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100484 | Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010423 | Partial duplication of the proximal phalanx of the 2nd toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100462 | Patchy sclerosis of the middle phalanx of the 4th toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010090 | Patchy sclerosis of the proximal phalanx of the hallux | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100418 | Partial duplication of the distal phalanx of the 5th toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100383 | Aplasia of the middle phalanx of the 5th toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100424 | Partial duplication of the proximal phalanx of the 5th toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100390 | Short distal phalanx of the 4th toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100465 | Patchy sclerosis of the proximal phalanx of the 4th toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010099 | Partial duplication of the 1st metatarsal | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010082 | Symphalangism affecting the distal phalanx of the hallux | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100411 | Complete duplication of the middle phalanx of the 4th toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100468 | Patchy sclerosis of the distal phalanx of the 4th toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010437 | Short proximal phalanx of the 2nd toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010422 | Complete duplication of the proximal phalanx of the 2nd toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100417 | Partial duplication of the distal phalanx of the 4th toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100379 | Aplasia of the distal phalanx of the 4th toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100476 | Symphalangism affecting the distal phalanx of the 3rd toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010072 | Patchy sclerosis of the 1st metatarsal | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100423 | Partial duplication of the proximal phalanx of the 4th toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100389 | Short distal phalanx of the 3rd toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010096 | Complete duplication of the distal phalanx of the hallux | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100410 | Complete duplication of the middle phalanx of the 3rd toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100480 | Proximal/middle symphalangism of 3rd toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100397 | Short proximal phalanx of the 5th toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010436 | Aplasia of the proximal phalanx of the 2nd toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100486 | Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100461 | Patchy sclerosis of the middle phalanx of the 3rd toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100416 | Partial duplication of the distal phalanx of the 3rd toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100378 | Absent distal phalanx of the 3rd toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010409 | Patchy sclerosis of the middle phalanx of the 2nd toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100422 | Partial duplication of the proximal phalanx of the 3rd toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010427 | Partial duplication of the middle phalanx of the 2nd toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100464 | Patchy sclerosis of the proximal phalanx of the 3rd toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010095 | Partial duplication of the proximal phalanx of the hallux | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010081 | Patchy sclerosis of the distal phalanx of the hallux | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100409 | Complete duplication of the distal phalanx of the 5th toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100467 | Patchy sclerosis of the distal phalanx of the 3rd toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100396 | Short proximal phalanx of the 4th toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010435 | Short middle phalanx of the 2nd toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100415 | Complete duplication of the proximal phalanx of the 5th toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100386 | Aplasia of the proximal phalanx of the 5th toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010426 | Complete duplication of the middle phalanx of the 2nd toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100489 | Proximal/middle symphalangism of 2nd toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010094 | Complete duplication of the proximal phalanx of the hallux | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100421 | Partial duplication of the middle phalanx of the 5th toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100408 | Complete duplication of the distal phalanx of the 4th toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100478 | Symphalangism affecting the distal phalanx of the 5th toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100395 | Short proximal phalanx of the 3rd toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0010434 | Aplasia of the middle phalanx of the 2nd toe | 4 | CL E G H | | | | | | | | | | |
HP:0010161 | HP:0100391 | Short distal phalanx of the 5th toe | 4 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | . | | | 219 | | |
HP:0010161 | HP:0010097 | Partial duplication of the distal phalanx of the hallux | 4 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | . | | | 85 | | |
HP:0010161 | HP:0100382 | Aplasia of the middle phalanx of the 4th toe | 4 | EOGT CL E G H | 285203 | 28526 | OMIM:615297 | Adams-Oliver syndrome 4 | | | | 4 | | |
HP:0010161 | HP:0100381 | Absent middle phalanx of the 3rd toe | 4 | EOGT CL E G H | 285203 | 28526 | OMIM:615297 | Adams-Oliver syndrome 4 | | | | 4 | | |
HP:0010161 | HP:0005793 | Shortening of all distal phalanges of the toes | 4 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0010161 | HP:0010107 | Short proximal phalanx of hallux | 4 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040281 - Very frequent | | | 111 | | |
HP:0010161 | HP:0010102 | Aplasia of the distal phalanx of the hallux | 4 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040281 - Very frequent | | | 111 | | |
HP:0010161 | HP:0010107 | Short proximal phalanx of hallux | 4 | IHH CL E G H | 3549 | 5956 | OMIM:112500 | Brachydactyly, type A1 | | | | 44 | | |
HP:0010161 | HP:0100380 | Aplasia of the distal phalanx of the 5th toe | 4 | KCNN3 CL E G H | 3782 | 6292 | OMIM:618658 | ZIMMERMANN-LABAND SYNDROME 3; ZLS3 | | | | 7 | | |
HP:0010161 | HP:0010432 | Absent distal phalanx of the 2nd toe | 4 | KCNN3 CL E G H | 3782 | 6292 | OMIM:618658 | ZIMMERMANN-LABAND SYNDROME 3; ZLS3 | | | | 7 | | |
HP:0010161 | HP:0100483 | Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal | 4 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:488232 | Split-foot malformation-mesoaxial polydactyly syndrome | | | | 2 | | |
HP:0010161 | HP:0100482 | Proximal/middle symphalangism of 5th toe | 4 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0010161 | HP:0100394 | Short middle phalanx of the 5th toe | 4 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0010161 | HP:0100481 | Proximal/middle symphalangism of 4th toe | 4 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0010161 | HP:0005793 | Shortening of all distal phalanges of the toes | 4 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:85169 | Familial digital arthropathy-brachydactyly | HP:0040281 - Very frequent | | | 214 | | |
HP:0010161 | HP:0010107 | Short proximal phalanx of hallux | 4 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0010161 | HP:0005793 | Shortening of all distal phalanges of the toes | 4 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0010161 | HP:0010102 | Aplasia of the distal phalanx of the hallux | 4 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040281 - Very frequent | | | 6 | | |