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:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | AFF4 CL E G H | 27125 | 17869 | ORPHA:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | HP:0040282 - Frequent | | | 95 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | AIRE CL E G H | 326 | 360 | ORPHA:3453 | Autoimmune polyendocrinopathy type 1 | HP:0040281 - Very frequent | | | 92 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | ARHGAP31 CL E G H | 57514 | 29216 | ORPHA:974 | Adams-Oliver syndrome | | | | 147 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | | | | 88 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | | | | 219 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | | | | 25 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:3473 | Zimmermann-Laband syndrome | | | | 5 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | BMPER CL E G H | 168667 | 24154 | OMIM:608022 | DIAPHANOSPONDYLODYSOSTOSIS | | | | 78 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | BMPR1B CL E G H | 658 | 1077 | ORPHA:93384 | Brachydactyly type C | HP:0040282 - Frequent | | | 90 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 276 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | CASR CL E G H | 846 | 1514 | ORPHA:428 | Autosomal dominant hypocalcemia | HP:0040282 - Frequent | | | 272 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | | | | 33 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | CDKN1C CL E G H | 1028 | 1786 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | | | | 114 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | CENPT CL E G H | 80152 | 25787 | OMIM:618702 | SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA | | | | | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | CLEC7A CL E G H | 64581 | 14558 | ORPHA:1334 | Chronic mucocutaneous candidiasis | HP:0040281 - Very frequent | | | 3 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:2021 | Fibrochondrogenesis | | | | 215 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:228520 | Fibrochondrogenesis 1 | | | | 215 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:2021 | Fibrochondrogenesis | | | | 222 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | COL17A1 CL E G H | 1308 | 2194 | OMIM:619787 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4 | | | | 129 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:251393 | Localized junctional epidermolysis bullosa | | | | 129 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:231568 | Autosomal dominant generalized dystrophic epidermolysis bullosa | | | | 263 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:158673 | Localized dystrophic epidermolysis bullosa, acral form | | | | 263 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:158676 | Localized dystrophic epidermolysis bullosa, nails only | | | | 263 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79410 | Localized dystrophic epidermolysis bullosa, pretibial form | HP:0040282 - Frequent | | | 263 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | CSTB CL E G H | 1476 | 2482 | ORPHA:248 | Autosomal recessive hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 51 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 160 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | CTSC CL E G H | 1075 | 2528 | ORPHA:678 | Papillon-Lefèvre syndrome | HP:0040281 - Very frequent | | | 50 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 65 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | DLL4 CL E G H | 54567 | 2910 | ORPHA:974 | Adams-Oliver syndrome | | | | 9 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | DOCK6 CL E G H | 57572 | 19189 | ORPHA:974 | Adams-Oliver syndrome | | | | 18 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | 14 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | 5 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | EDAR CL E G H | 10913 | 2895 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040282 - Frequent | | | 86 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | EDAR CL E G H | 10913 | 2895 | ORPHA:248 | Autosomal recessive hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 86 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | EDARADD CL E G H | 128178 | 14341 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040282 - Frequent | | | 56 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | EDARADD CL E G H | 128178 | 14341 | ORPHA:248 | Autosomal recessive hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 56 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | EED CL E G H | 8726 | 3188 | ORPHA:3447 | Weaver syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | EFNB1 CL E G H | 1947 | 3226 | ORPHA:1520 | Craniofrontonasal dysplasia | | | | 27 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 172 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | EOGT CL E G H | 285203 | 28526 | ORPHA:974 | Adams-Oliver syndrome | | | | 4 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | | | | 106 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | | | | 54 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | EVC CL E G H | 2121 | 3497 | ORPHA:952 | Acrofacial dysostosis, Weyers type | HP:0040281 - Very frequent | | | 209 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | EVC CL E G H | 2121 | 3497 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 209 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | EVC2 CL E G H | 132884 | 19747 | ORPHA:952 | Acrofacial dysostosis, Weyers type | HP:0040281 - Very frequent | | | 137 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | EVC2 CL E G H | 132884 | 19747 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 137 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | EZH2 CL E G H | 2146 | 3527 | ORPHA:3447 | Weaver syndrome | HP:0040281 - Very frequent | | | 81 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123790 | Beare-Stevenson cutis gyrata syndrome | | | | 175 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:93384 | Brachydactyly type C | HP:0040282 - Frequent | | | 52 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | HP:0040282 - Frequent | | | 68 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | GLI1 CL E G H | 2735 | 4317 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | GNA11 CL E G H | 2767 | 4379 | ORPHA:428 | Autosomal dominant hypocalcemia | HP:0040282 - Frequent | | | 16 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | HP:0040282 - Frequent | | | 5 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | | | | 2 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:29207 | Reactive arthritis | | | | 4 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | HMGA2 CL E G H | 8091 | 5009 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | | | | 2 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | HPGD CL E G H | 3248 | 5154 | ORPHA:217059 | Isolated congenital digital clubbing | | | | 55 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | HPGD CL E G H | 3248 | 5154 | ORPHA:2796 | Pachydermoperiostosis | HP:0040282 - Frequent | | | 55 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:3071 | Costello syndrome | HP:0040281 - Very frequent | | | 113 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | HYMAI CL E G H | 57061 | 5326 | ORPHA:96191 | Paternal uniparental disomy of chromosome 6 | | | | | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | IFT122 CL E G H | 55764 | 13556 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 93 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | IFT43 CL E G H | 112752 | 29669 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 11 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | IFT52 CL E G H | 51098 | 15901 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 4 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | IGF2 CL E G H | 3481 | 5466 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | | | | 9 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | HP:0040281 - Very frequent | | | 52 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | IL11RA CL E G H | 3590 | 5967 | OMIM:614188 | Craniosynostosis and dental anomalies | | | | 8 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | IL17F CL E G H | 112744 | 16404 | ORPHA:1334 | Chronic mucocutaneous candidiasis | HP:0040281 - Very frequent | | | 14 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | IL17RA CL E G H | 23765 | 5985 | ORPHA:1334 | Chronic mucocutaneous candidiasis | HP:0040281 - Very frequent | | | 196 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | IL17RC CL E G H | 84818 | 18358 | ORPHA:1334 | Chronic mucocutaneous candidiasis | HP:0040281 - Very frequent | | | 4 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | INPPL1 CL E G H | 3636 | 6080 | ORPHA:3144 | Schneckenbecken dysplasia | HP:0040282 - Frequent | | | 18 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | ITGB4 CL E G H | 3691 | 6158 | OMIM:619816 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A | | | | 124 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:251393 | Localized junctional epidermolysis bullosa | | | | 124 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:420561 | Temple-Baraitser syndrome | | | | 13 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | KCNH1 CL E G H | 3756 | 6250 | OMIM:611816 | Temple-Baraitser syndrome | | | | 13 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:3473 | Zimmermann-Laband syndrome | | | | 13 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | KCNN3 CL E G H | 3782 | 6292 | ORPHA:3473 | Zimmermann-Laband syndrome | | | | 7 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | KCTD1 CL E G H | 284252 | 18249 | ORPHA:2036 | Scalp-ear-nipple syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | KDF1 CL E G H | 126695 | 26624 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040282 - Frequent | | | 1 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | KIF1A CL E G H | 547 | 888 | ORPHA:970 | Hereditary sensory and autonomic neuropathy type 2 | | | | 276 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 196 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | KRT1 CL E G H | 3848 | 6412 | ORPHA:2199 | Epidermolytic palmoplantar keratoderma | HP:0040282 - Frequent | | | 100 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:89838 | Autosomal recessive generalized epidermolysis bullosa simplex | HP:0040282 - Frequent | | | 110 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | KRT16 CL E G H | 3868 | 6423 | ORPHA:2199 | Epidermolytic palmoplantar keratoderma | HP:0040282 - Frequent | | | 27 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | KRT16 CL E G H | 3868 | 6423 | ORPHA:2309 | Pachyonychia congenita | | | | 27 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | KRT17 CL E G H | 3872 | 6427 | ORPHA:2309 | Pachyonychia congenita | | | | 23 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79145 | Dowling-Degos disease | HP:0040283 - Occasional | | | 173 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | KRT6A CL E G H | 3853 | 6443 | ORPHA:2309 | Pachyonychia congenita | | | | 41 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | KRT6B CL E G H | 3854 | 6444 | ORPHA:2309 | Pachyonychia congenita | | | | 4 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | KRT74 CL E G H | 121391 | 28929 | OMIM:614929 | Ectodermal dysplasia 7, Hair/nail type | | | | 5 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | KRT9 CL E G H | 3857 | 6447 | ORPHA:2199 | Epidermolytic palmoplantar keratoderma | HP:0040282 - Frequent | | | 66 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:235 | Dubowitz syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | | | | 645 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | | | | 165 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | LRP4 CL E G H | 4038 | 6696 | ORPHA:3152 | Sclerosteosis | | | | 124 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | MACROH2A1 CL E G H | 9555 | 4740 | ORPHA:1275 | Brachydactyly-elbow wrist dysplasia syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 134 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 178 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | | | | 22 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308800 | Keratosis follicularis spinulosa decalvans, X-linked | | | | 22 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:659 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | HP:0040281 - Very frequent | | | 22 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | | | | 9 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | MSX1 CL E G H | 4487 | 7391 | ORPHA:2228 | Hypodontia-dysplasia of nails syndrome | HP:0040281 - Very frequent | | | 12 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | | | | 4 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 27 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 17 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:974 | Adams-Oliver syndrome | | | | 452 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 12 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:3447 | Weaver syndrome | HP:0040281 - Very frequent | | | 544 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | NSUN2 CL E G H | 54888 | 25994 | ORPHA:235 | Dubowitz syndrome | HP:0040283 - Occasional | | | 84 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | | | | 2 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 26 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | PEPD CL E G H | 5184 | 8840 | ORPHA:742 | Prolidase deficiency | HP:0040282 - Frequent | | | 66 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | PERP CL E G H | 64065 | 17637 | ORPHA:659 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | HP:0040281 - Very frequent | | | | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:3220 | Deafness-enamel hypoplasia-nail defects syndrome | HP:0040281 - Very frequent | | | 169 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:3220 | Deafness-enamel hypoplasia-nail defects syndrome | HP:0040281 - Very frequent | | | 98 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | PIGF CL E G H | 5281 | 8962 | OMIM:619356 | ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS | | | | | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | | | | 37 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | | | | 37 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | PIGO CL E G H | 84720 | 23215 | OMIM:614749 | Hyperphosphatasia with mental retardation syndrome 2 | | | | 84 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | PITX1 CL E G H | 5307 | 9004 | ORPHA:1275 | Brachydactyly-elbow wrist dysplasia syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | PKP1 CL E G H | 5317 | 9023 | OMIM:604536 | ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME | | | | 107 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | PLAG1 CL E G H | 5324 | 9045 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | | | | 3 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:96191 | Paternal uniparental disomy of chromosome 6 | | | | | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | PLCD1 CL E G H | 5333 | 9060 | ORPHA:2387 | Leukonychia totalis | HP:0040281 - Very frequent | | | 5 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:257 | Epidermolysis bullosa simplex with muscular dystrophy | | | | 759 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | POFUT1 CL E G H | 23509 | 14988 | ORPHA:79145 | Dowling-Degos disease | HP:0040283 - Occasional | | | 2 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | POGLUT1 CL E G H | 56983 | 22954 | ORPHA:79145 | Dowling-Degos disease | HP:0040283 - Occasional | | | 6 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | PPP1CB CL E G H | 5500 | 9282 | ORPHA:2701 | Noonan syndrome-like disorder with loose anagen hair | HP:0040283 - Occasional | | | 9 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | PRKACA CL E G H | 5566 | 9380 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | PRKACB CL E G H | 5567 | 9381 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | PSENEN CL E G H | 55851 | 30100 | ORPHA:79145 | Dowling-Degos disease | HP:0040283 - Occasional | | | 2 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | PTDSS1 CL E G H | 9791 | 9587 | ORPHA:2658 | Lenz-Majewski hyperostotic dwarfism | | | | 6 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | RBPJ CL E G H | 3516 | 5724 | ORPHA:974 | Adams-Oliver syndrome | | | | 3 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | RBPJ CL E G H | 3516 | 5724 | OMIM:614814 | Adams-Oliver syndrome 3 | | | | 3 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | RETREG1 CL E G H | 54463 | 25964 | ORPHA:970 | Hereditary sensory and autonomic neuropathy type 2 | | | | 54 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | | | | 120 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | ROR2 CL E G H | 4920 | 10257 | OMIM:113000 | Brachydactyly, type B1 | | | | 120 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:192 | Coffin-Lowry syndrome | | | | 65 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 77 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | | | | 90 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | SCN9A CL E G H | 6335 | 10597 | ORPHA:970 | Hereditary sensory and autonomic neuropathy type 2 | | | | 318 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | HP:0040283 - Occasional | | | 19 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | SHOC2 CL E G H | 8036 | 15454 | ORPHA:2701 | Noonan syndrome-like disorder with loose anagen hair | HP:0040283 - Occasional | | | 74 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | SHOX CL E G H | 6473 | 10853 | ORPHA:240 | Léri-Weill dyschondrosteosis | | | | 66 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | SLC35D1 CL E G H | 23169 | 20800 | ORPHA:3144 | Schneckenbecken dysplasia | HP:0040282 - Frequent | | | 9 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | SLC39A4 CL E G H | 55630 | 17129 | ORPHA:37 | Acrodermatitis enteropathica | | | | 55 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | SLCO2A1 CL E G H | 6578 | 10955 | ORPHA:2796 | Pachydermoperiostosis | HP:0040282 - Frequent | | | 13 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | | | | 617 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | | | | 87 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | | | | 1 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | | | | 47 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | SOST CL E G H | 50964 | 13771 | ORPHA:3152 | Sclerosteosis | | | | 26 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | | | | 14 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | SOX11 CL E G H | 6664 | 11191 | OMIM:615866 | Mental retardation, autosomal dominant 27 | | | | 14 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:2314 | Autosomal dominant hyper-IgE syndrome | | | | 110 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | SUZ12 CL E G H | 23512 | 17101 | ORPHA:3447 | Weaver syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | | | | 271 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | HP:0040281 - Very frequent | | | 271 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | TBX3 CL E G H | 6926 | 11602 | ORPHA:3138 | Ulnar-mammary syndrome | HP:0040281 - Very frequent | | | 100 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 48 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 238 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | HP:0040283 - Occasional | | | 3 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | TFAP2A CL E G H | 7020 | 11742 | ORPHA:1297 | Branchio-oculo-facial syndrome | | | | 12 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | | | | 12 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 60 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:268130 | Revesz syndrome | | | | 60 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:978 | ADULT syndrome | | | | 140 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | TRAF3IP2 CL E G H | 10758 | 1343 | ORPHA:1334 | Chronic mucocutaneous candidiasis | HP:0040281 - Very frequent | | | 4 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | TRAF6 CL E G H | 7189 | 12036 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040282 - Frequent | | | | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | TRPV3 CL E G H | 162514 | 18084 | ORPHA:659 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | HP:0040281 - Very frequent | | | 151 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | TWIST2 CL E G H | 117581 | 20670 | OMIM:200110 | Ablepharon-Macrostomia syndrome | | | | 7 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 1 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 8 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | | | | 83 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | WDR19 CL E G H | 57728 | 18340 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 95 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 136 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | WNK1 CL E G H | 65125 | 14540 | ORPHA:970 | Hereditary sensory and autonomic neuropathy type 2 | | | | 199 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | WNT10A CL E G H | 80326 | 13829 | ORPHA:248 | Autosomal recessive hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 71 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | WNT10A CL E G H | 80326 | 13829 | OMIM:257980 | Odontoonychodermal dysplasia | | | | 71 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | WNT10A CL E G H | 80326 | 13829 | OMIM:150400 | Tooth agenesis, selective, 4 | | | | 71 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | 98 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 40 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | | | | 17 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | | | | 83 | | |
HP:0001231 | HP:0001231 | Abnormal fingernail morphology | 0 | ZNF462 CL E G H | 58499 | 21684 | OMIM:618619 | WEISS-KRUSZKA SYNDROME; WSKA | | | | 4 | | |
HP:0001231 | HP:0033976 | Volar fingernail | 1 | CL E G H | | | | | | | | | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | ARHGAP31 CL E G H | 57514 | 29216 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 147 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | | | | 88 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | | | | 219 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | | | | 25 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | BMPER CL E G H | 168667 | 24154 | OMIM:608022 | DIAPHANOSPONDYLODYSOSTOSIS | . | | | 78 | | |
HP:0001231 | HP:0008391 | Dystrophic fingernails | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 276 | | |
HP:0001231 | HP:0008391 | Dystrophic fingernails | 1 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | CDKN1C CL E G H | 1028 | 1786 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040283 - Occasional | | | 114 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | CENPT CL E G H | 80152 | 25787 | OMIM:618702 | SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA | | | | | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:2021 | Fibrochondrogenesis | HP:0040282 - Frequent | | | 215 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | COL11A1 CL E G H | 1301 | 2186 | OMIM:228520 | Fibrochondrogenesis 1 | . | | | 215 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:2021 | Fibrochondrogenesis | HP:0040282 - Frequent | | | 222 | | |
HP:0001231 | HP:0008391 | Dystrophic fingernails | 1 | COL17A1 CL E G H | 1308 | 2194 | OMIM:619787 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4 | | | | 129 | | |
HP:0001231 | HP:0008391 | Dystrophic fingernails | 1 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:251393 | Localized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 129 | | |
HP:0001231 | HP:0008391 | Dystrophic fingernails | 1 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:231568 | Autosomal dominant generalized dystrophic epidermolysis bullosa | HP:0040283 - Occasional | | | 263 | | |
HP:0001231 | HP:0008391 | Dystrophic fingernails | 1 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:158673 | Localized dystrophic epidermolysis bullosa, acral form | HP:0040282 - Frequent | | | 263 | | |
HP:0001231 | HP:0008391 | Dystrophic fingernails | 1 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:158676 | Localized dystrophic epidermolysis bullosa, nails only | HP:0040282 - Frequent | | | 263 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | DLL4 CL E G H | 54567 | 2910 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | DOCK6 CL E G H | 57572 | 19189 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 18 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0001231 | HP:0100798 | Fingernail dysplasia | 1 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0001231 | HP:0008402 | Ridged fingernail | 1 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0001231 | HP:0100798 | Fingernail dysplasia | 1 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0001231 | HP:0008402 | Ridged fingernail | 1 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0001231 | HP:0008402 | Ridged fingernail | 1 | EFNB1 CL E G H | 1947 | 3226 | ORPHA:1520 | Craniofrontonasal dysplasia | HP:0040281 - Very frequent | | | 27 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | EOGT CL E G H | 285203 | 28526 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0001231 | HP:0008391 | Dystrophic fingernails | 1 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0001231 | HP:0008391 | Dystrophic fingernails | 1 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123790 | Beare-Stevenson cutis gyrata syndrome | | | | 175 | | |
HP:0001231 | HP:0008402 | Ridged fingernail | 1 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | | | |
HP:0001231 | HP:0100798 | Fingernail dysplasia | 1 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | | | |
HP:0001231 | HP:0008391 | Dystrophic fingernails | 1 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0001231 | HP:0008391 | Dystrophic fingernails | 1 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0001231 | HP:0008391 | Dystrophic fingernails | 1 | HLA-B CL E G H | 3106 | 4932 | ORPHA:29207 | Reactive arthritis | HP:0040281 - Very frequent | | | 4 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | HMGA2 CL E G H | 8091 | 5009 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040283 - Occasional | | | 2 | | |
HP:0001231 | HP:0008391 | Dystrophic fingernails | 1 | HPGD CL E G H | 3248 | 5154 | ORPHA:217059 | Isolated congenital digital clubbing | | | | 55 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | HYMAI CL E G H | 57061 | 5326 | ORPHA:96191 | Paternal uniparental disomy of chromosome 6 | HP:0040281 - Very frequent | | | | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | IGF2 CL E G H | 3481 | 5466 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040283 - Occasional | | | 9 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | HP:0040281 - Very frequent | | | 52 | | |
HP:0001231 | HP:0008402 | Ridged fingernail | 1 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | HP:0040283 - Occasional | | | 52 | | |
HP:0001231 | HP:0100798 | Fingernail dysplasia | 1 | IL11RA CL E G H | 3590 | 5967 | OMIM:614188 | Craniosynostosis and dental anomalies | HP:0040283 - Occasional | | | 8 | | |
HP:0001231 | HP:0040039 | Onycholysis of fingernails | 1 | ITGB4 CL E G H | 3691 | 6158 | OMIM:619816 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A | | | | 124 | | |
HP:0001231 | HP:0008391 | Dystrophic fingernails | 1 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:251393 | Localized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 124 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:420561 | Temple-Baraitser syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | KCNH1 CL E G H | 3756 | 6250 | OMIM:611816 | Temple-Baraitser syndrome | | | | 13 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | KCNN3 CL E G H | 3782 | 6292 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0001231 | HP:0008391 | Dystrophic fingernails | 1 | KIF1A CL E G H | 547 | 888 | ORPHA:970 | Hereditary sensory and autonomic neuropathy type 2 | HP:0040281 - Very frequent | | | 276 | | |
HP:0001231 | HP:0008391 | Dystrophic fingernails | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 196 | | |
HP:0001231 | HP:0100798 | Fingernail dysplasia | 1 | KRT16 CL E G H | 3868 | 6423 | ORPHA:2309 | Pachyonychia congenita | HP:0040282 - Frequent | | | 27 | | |
HP:0001231 | HP:0100798 | Fingernail dysplasia | 1 | KRT17 CL E G H | 3872 | 6427 | ORPHA:2309 | Pachyonychia congenita | HP:0040282 - Frequent | | | 23 | | |
HP:0001231 | HP:0100798 | Fingernail dysplasia | 1 | KRT6A CL E G H | 3853 | 6443 | ORPHA:2309 | Pachyonychia congenita | HP:0040282 - Frequent | | | 41 | | |
HP:0001231 | HP:0100798 | Fingernail dysplasia | 1 | KRT6B CL E G H | 3854 | 6444 | ORPHA:2309 | Pachyonychia congenita | HP:0040282 - Frequent | | | 4 | | |
HP:0001231 | HP:0008391 | Dystrophic fingernails | 1 | KRT74 CL E G H | 121391 | 28929 | OMIM:614929 | Ectodermal dysplasia 7, Hair/nail type | . | | | 5 | | |
HP:0001231 | HP:0008391 | Dystrophic fingernails | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040282 - Frequent | | | 645 | | |
HP:0001231 | HP:0100798 | Fingernail dysplasia | 1 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | HP:0040282 - Frequent | | | 165 | | |
HP:0001231 | HP:0100798 | Fingernail dysplasia | 1 | LRP4 CL E G H | 4038 | 6696 | ORPHA:3152 | Sclerosteosis | HP:0040281 - Very frequent | | | 124 | | |
HP:0001231 | HP:0008391 | Dystrophic fingernails | 1 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0001231 | HP:0008391 | Dystrophic fingernails | 1 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 178 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040282 - Frequent | | | 22 | | |
HP:0001231 | HP:0012742 | Thin fingernail | 1 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040282 - Frequent | | | 22 | | |
HP:0001231 | HP:0008391 | Dystrophic fingernails | 1 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308800 | Keratosis follicularis spinulosa decalvans, X-linked | . | | | 22 | | |
HP:0001231 | HP:0008391 | Dystrophic fingernails | 1 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0001231 | HP:0008402 | Ridged fingernail | 1 | MSX1 CL E G H | 4487 | 7391 | ORPHA:2228 | Hypodontia-dysplasia of nails syndrome | HP:0040281 - Very frequent | | | 12 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | MSX1 CL E G H | 4487 | 7391 | ORPHA:2228 | Hypodontia-dysplasia of nails syndrome | HP:0040281 - Very frequent | | | 12 | | |
HP:0001231 | HP:0008391 | Dystrophic fingernails | 1 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 452 | | |
HP:0001231 | HP:0100798 | Fingernail dysplasia | 1 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | PIGF CL E G H | 5281 | 8962 | OMIM:619356 | ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS | | | | | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | PIGO CL E G H | 84720 | 23215 | OMIM:614749 | Hyperphosphatasia with mental retardation syndrome 2 | | | | 84 | | |
HP:0001231 | HP:0008391 | Dystrophic fingernails | 1 | PKP1 CL E G H | 5317 | 9023 | OMIM:604536 | ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME | | | | 107 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | PLAG1 CL E G H | 5324 | 9045 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040283 - Occasional | | | 3 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:96191 | Paternal uniparental disomy of chromosome 6 | HP:0040281 - Very frequent | | | | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | PLEC CL E G H | 5339 | 9069 | ORPHA:257 | Epidermolysis bullosa simplex with muscular dystrophy | HP:0040281 - Very frequent | | | 759 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | PTDSS1 CL E G H | 9791 | 9587 | ORPHA:2658 | Lenz-Majewski hyperostotic dwarfism | HP:0040283 - Occasional | | | 6 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | RBPJ CL E G H | 3516 | 5724 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | RBPJ CL E G H | 3516 | 5724 | OMIM:614814 | Adams-Oliver syndrome 3 | | | | 3 | | |
HP:0001231 | HP:0008391 | Dystrophic fingernails | 1 | RETREG1 CL E G H | 54463 | 25964 | ORPHA:970 | Hereditary sensory and autonomic neuropathy type 2 | HP:0040281 - Very frequent | | | 54 | | |
HP:0001231 | HP:0008391 | Dystrophic fingernails | 1 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0001231 | HP:0100798 | Fingernail dysplasia | 1 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040282 - Frequent | | | 120 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | ROR2 CL E G H | 4920 | 10257 | OMIM:113000 | Brachydactyly, type B1 | | | | 120 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:192 | Coffin-Lowry syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0001231 | HP:0008391 | Dystrophic fingernails | 1 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | HP:0040283 - Occasional | | | 90 | | |
HP:0001231 | HP:0008391 | Dystrophic fingernails | 1 | SCN9A CL E G H | 6335 | 10597 | ORPHA:970 | Hereditary sensory and autonomic neuropathy type 2 | HP:0040281 - Very frequent | | | 318 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | SHOX CL E G H | 6473 | 10853 | ORPHA:240 | Léri-Weill dyschondrosteosis | HP:0040281 - Very frequent | | | 66 | | |
HP:0001231 | HP:0008402 | Ridged fingernail | 1 | SLC39A4 CL E G H | 55630 | 17129 | ORPHA:37 | Acrodermatitis enteropathica | HP:0040282 - Frequent | | | 55 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | | | | 617 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | | | | 87 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | | | | 1 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | | | | 47 | | |
HP:0001231 | HP:0100798 | Fingernail dysplasia | 1 | SOST CL E G H | 50964 | 13771 | ORPHA:3152 | Sclerosteosis | HP:0040281 - Very frequent | | | 26 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | | | | 14 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | SOX11 CL E G H | 6664 | 11191 | OMIM:615866 | Mental retardation, autosomal dominant 27 | | | | 14 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0001231 | HP:0008391 | Dystrophic fingernails | 1 | STAT3 CL E G H | 6774 | 11364 | ORPHA:2314 | Autosomal dominant hyper-IgE syndrome | HP:0040282 - Frequent | | | 110 | | |
HP:0001231 | HP:0008391 | Dystrophic fingernails | 1 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | | | | 271 | | |
HP:0001231 | HP:0100798 | Fingernail dysplasia | 1 | TFAP2A CL E G H | 7020 | 11742 | ORPHA:1297 | Branchio-oculo-facial syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | . | | | 12 | | |
HP:0001231 | HP:0008402 | Ridged fingernail | 1 | TINF2 CL E G H | 26277 | 11824 | OMIM:268130 | Revesz syndrome | . | | | 60 | | |
HP:0001231 | HP:0100798 | Fingernail dysplasia | 1 | TP63 CL E G H | 8626 | 15979 | ORPHA:978 | ADULT syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | TWIST2 CL E G H | 117581 | 20670 | OMIM:200110 | Ablepharon-Macrostomia syndrome | | | | 7 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | HP:0040283 - Occasional | | | 83 | | |
HP:0001231 | HP:0008391 | Dystrophic fingernails | 1 | WNK1 CL E G H | 65125 | 14540 | ORPHA:970 | Hereditary sensory and autonomic neuropathy type 2 | HP:0040281 - Very frequent | | | 199 | | |
HP:0001231 | HP:0008391 | Dystrophic fingernails | 1 | WNT10A CL E G H | 80326 | 13829 | OMIM:257980 | Odontoonychodermal dysplasia | . | | | 71 | | |
HP:0001231 | HP:0008391 | Dystrophic fingernails | 1 | WNT10A CL E G H | 80326 | 13829 | OMIM:150400 | Tooth agenesis, selective, 4 | | | | 71 | | |
HP:0001231 | HP:0100798 | Fingernail dysplasia | 1 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 98 | | |
HP:0001231 | HP:0008402 | Ridged fingernail | 1 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 98 | | |
HP:0001231 | HP:0008391 | Dystrophic fingernails | 1 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | . | | | 17 | | |
HP:0001231 | HP:0008391 | Dystrophic fingernails | 1 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040282 - Frequent | | | 83 | | |
HP:0001231 | HP:0001804 | Hypoplastic fingernail | 1 | ZNF462 CL E G H | 58499 | 21684 | OMIM:618619 | WEISS-KRUSZKA SYNDROME; WSKA | | | | 4 | | |
HP:0001231 | HP:0008398 | Hypoplastic fifth fingernail | 2 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0001231 | HP:0008398 | Hypoplastic fifth fingernail | 2 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 219 | | |
HP:0001231 | HP:0008398 | Hypoplastic fifth fingernail | 2 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | . | | | 219 | | |
HP:0001231 | HP:0008398 | Hypoplastic fifth fingernail | 2 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0001231 | HP:0008398 | Hypoplastic fifth fingernail | 2 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | | | |
HP:0001231 | HP:0008400 | Onycholysis of distal fingernails | 2 | ITGB4 CL E G H | 3691 | 6158 | OMIM:619816 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A | | | | 124 | | |
HP:0001231 | HP:0012553 | Hypoplastic thumbnail | 2 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:420561 | Temple-Baraitser syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0001231 | HP:0012553 | Hypoplastic thumbnail | 2 | KCNH1 CL E G H | 3756 | 6250 | OMIM:611816 | Temple-Baraitser syndrome | . | | | 13 | | |
HP:0001231 | HP:0008398 | Hypoplastic fifth fingernail | 2 | PIGF CL E G H | 5281 | 8962 | OMIM:619356 | ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS | | | | | | |
HP:0001231 | HP:0012553 | Hypoplastic thumbnail | 2 | PIGF CL E G H | 5281 | 8962 | OMIM:619356 | ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS | | | | | | |
HP:0001231 | HP:0008398 | Hypoplastic fifth fingernail | 2 | RBPJ CL E G H | 3516 | 5724 | OMIM:614814 | Adams-Oliver syndrome 3 | | | | 3 | | |
HP:0001231 | HP:0008398 | Hypoplastic fifth fingernail | 2 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 617 | | |
HP:0001231 | HP:0008398 | Hypoplastic fifth fingernail | 2 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 87 | | |
HP:0001231 | HP:0008398 | Hypoplastic fifth fingernail | 2 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001231 | HP:0008398 | Hypoplastic fifth fingernail | 2 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | | | |
HP:0001231 | HP:0008398 | Hypoplastic fifth fingernail | 2 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 47 | | |
HP:0001231 | HP:0008398 | Hypoplastic fifth fingernail | 2 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0001231 | HP:0008398 | Hypoplastic fifth fingernail | 2 | SOX11 CL E G H | 6664 | 11191 | OMIM:615866 | Mental retardation, autosomal dominant 27 | | | | 14 | | |
HP:0001231 | HP:0008398 | Hypoplastic fifth fingernail | 2 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040282 - Frequent | | | | | |