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:0010301 | HP:0010301 | Spinal dysraphism | 0 | ACTB CL E G H | 60 | 132 | ORPHA:64755 | Becker nevus syndrome | | | | 72 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | | | | 34 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | AMER1 CL E G H | 139285 | 26837 | ORPHA:2780 | Osteopathia striata-cranial sclerosis syndrome | | | | 34 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 1 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | | | | 5 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | | | | 36 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | | | | 13 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | BMS1 CL E G H | 9790 | 23505 | ORPHA:1114 | Aplasia cutis congenita | HP:0040281 - Very frequent | | | 1 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:500 | Noonan syndrome with multiple lentigines | | | | 276 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | | | | 5769 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | | | | 7642 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | | | | 1086 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | | | | 147 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | CCL2 CL E G H | 6347 | 10618 | OMIM:182940 | Neural tube defects, susceptibility to | | | | 3 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | CCNQ CL E G H | 92002 | 28434 | OMIM:300707 | Toe syndactyly, telecanthus, and anogenital and renal malformations | | | | 7 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | | | | 8 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | | | | 35 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | CHRNG CL E G H | 1146 | 1967 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | | | | 68 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | | | | 177 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | COLEC10 CL E G H | 10584 | 2220 | ORPHA:293843 | 3MC syndrome | | | | 3 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | COLEC11 CL E G H | 78989 | 17213 | ORPHA:293843 | 3MC syndrome | | | | 9 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 6 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | CUL7 CL E G H | 9820 | 21024 | OMIM:273750 | 3-M syndrome 1 | | | | 127 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | DACT1 CL E G H | 51339 | 17748 | ORPHA:63260 | Craniorachischisis | HP:0040281 - Very frequent | | | 2 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | DACT1 CL E G H | 51339 | 17748 | OMIM:617466 | Townes-Brocks syndrome 2 | | | | 2 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | DARS1 CL E G H | 1615 | 2678 | OMIM:615281 | HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL | | | | | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | DLL3 CL E G H | 10683 | 2909 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | | | | 45 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | DLL4 CL E G H | 54567 | 2910 | ORPHA:1114 | Aplasia cutis congenita | HP:0040281 - Very frequent | | | 9 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | | | | 158 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | | | | 340 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | | | | 58 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:3412 | VACTERL with hydrocephalus | | | | 58 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | | | | 410 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | | | | 147 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | | | | 73 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | | | | 87 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | | | | 73 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | | | | 157 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | | | | 53 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | | | | 107 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | FIBP CL E G H | 9158 | 3705 | ORPHA:500095 | Tall stature-intellectual disability-renal anomalies syndrome | | | | 2 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | | | | 8 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:1826 | Frontometaphyseal dysplasia | | | | 493 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:150250 | Larsen syndrome | | | | 233 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | FUZ CL E G H | 80199 | 26219 | OMIM:182940 | Neural tube defects, susceptibility to | | | | 3 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | GDF3 CL E G H | 9573 | 4218 | ORPHA:2345 | Isolated Klippel-Feil syndrome | | | | 7 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | GDF6 CL E G H | 392255 | 4221 | ORPHA:2345 | Isolated Klippel-Feil syndrome | | | | 64 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 8 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | HAAO CL E G H | 23498 | 4796 | OMIM:617660 | Vertebral, cardiac, renal, and limb defects syndrome 1 | . | | | 2 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | HES7 CL E G H | 84667 | 15977 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | | | | 10 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | HES7 CL E G H | 84667 | 15977 | OMIM:613686 | Spondylocostal dysostosis 4, autosomal recessive | | | | 10 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 3 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | HMX1 CL E G H | 3166 | 5017 | OMIM:612109 | Oculoauricular syndrome | | | | 2 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:2874 | Phakomatosis pigmentokeratotica | | | | 113 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | | | | 52 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | IRF6 CL E G H | 3664 | 6121 | OMIM:119500 | Popliteal pterygium syndrome | | | | 99 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:1114 | Aplasia cutis congenita | HP:0040281 - Very frequent | | | 124 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 2 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | | | | 283 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | | | | 283 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | | | | 13 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | KIF22 CL E G H | 3835 | 6391 | OMIM:603546 | Spondyloepimetaphyseal dysplasia with joint laxity, type 2 | . | | | 14 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | LFNG CL E G H | 3955 | 6560 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | | | | 13 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:235 | Dubowitz syndrome | | | | 88 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | LMX1B CL E G H | 4010 | 6654 | OMIM:161200 | Nail-Patella syndrome | | | | 165 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | | | | 1 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | | | | 63 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | MAP3K7 CL E G H | 6885 | 6859 | ORPHA:1826 | Frontometaphyseal dysplasia | | | | 11 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | MASP1 CL E G H | 5648 | 6901 | ORPHA:293843 | 3MC syndrome | | | | 21 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | MASP1 CL E G H | 5648 | 6901 | OMIM:257920 | 3mc syndrome 1 | | | | 21 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | MEOX1 CL E G H | 4222 | 7013 | ORPHA:2345 | Isolated Klippel-Feil syndrome | | | | 5 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | MESP2 CL E G H | 145873 | 29659 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | | | | 45 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | MTHFD1 CL E G H | 4522 | 7432 | OMIM:601634 | Neural tube defects, folate-sensitive | . | | | 5 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | MTHFR CL E G H | 4524 | 7436 | OMIM:601634 | Neural tube defects, folate-sensitive | . | | | 183 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | MTR CL E G H | 4548 | 7468 | OMIM:601634 | Neural tube defects, folate-sensitive | . | | | 217 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | MTRR CL E G H | 4552 | 7473 | OMIM:601634 | Neural tube defects, folate-sensitive | . | | | 88 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:193700 | Arthrogryposis, distal, type 2A | | | | 166 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | | | | 166 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | NEK9 CL E G H | 91754 | 18591 | ORPHA:64754 | Nevus comedonicus syndrome | | | | 9 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:162200 | Neurofibromatosis, type I | | | | 1952 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | ORPHA:2289 | Neuronal intranuclear inclusion disease | | | | | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | NSUN2 CL E G H | 54888 | 25994 | ORPHA:235 | Dubowitz syndrome | | | | 84 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | | | | 1349 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | PAX3 CL E G H | 5077 | 8617 | ORPHA:894 | Waardenburg syndrome type 1 | | | | 59 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | PAX3 CL E G H | 5077 | 8617 | OMIM:193500 | Waardenburg syndrome, type 1 | | | | 59 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | PHGDH CL E G H | 26227 | 8923 | OMIM:256520 | Neu-Laxova syndrome | | | | 37 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:612918 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | HP:0040283 - Occasional | | | 162 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:1114 | Aplasia cutis congenita | HP:0040281 - Very frequent | | | 759 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | POLA1 CL E G H | 5422 | 9173 | OMIM:301030 | Van esch-o'driscoll syndrome | | | | 2 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | | | | 20 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | | | | 20 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | PSAT1 CL E G H | 29968 | 19129 | OMIM:616038 | Neu-Laxova syndrome 2 | | | | 27 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:109400 | Basal cell nevus syndrome | | | | 665 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | PTCH2 CL E G H | 8643 | 9586 | OMIM:109400 | Basal cell nevus syndrome | | | | 40 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:151100 | Leopard syndrome 1 | | | | 291 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:500 | Noonan syndrome with multiple lentigines | | | | 291 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | | | | 19 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | | | | 19 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | | | | 9 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | | | | 391 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:500 | Noonan syndrome with multiple lentigines | | | | 212 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | RECQL4 CL E G H | 9401 | 9949 | OMIM:218600 | Baller-Gerold syndrome | | | | 445 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | | | | | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | RIPPLY2 CL E G H | 134701 | 21390 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | | | | 3 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | HP:0040281 - Very frequent | | | 37 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | RORA CL E G H | 6095 | 10258 | OMIM:618060 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA | | | | 1 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | | | | 90 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | | | | 86 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | SALL4 CL E G H | 57167 | 15924 | OMIM:607323 | Duane-Radial ray syndrome | | | | 86 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | SLC25A19 CL E G H | 60386 | 14409 | ORPHA:99742 | Amish lethal microcephaly | | | | 36 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | | | | 274 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | SNRPB CL E G H | 6628 | 11153 | ORPHA:1393 | Cerebrocostomandibular syndrome | | | | 6 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:109400 | Basal cell nevus syndrome | | | | 124 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | SUPT16H CL E G H | 11198 | 11465 | OMIM:619480 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC | | | | | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | | | | 271 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 32 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | TBX6 CL E G H | 6911 | 11605 | ORPHA:1797 | Autosomal dominant spondylocostal dysostosis | | | | 19 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | TBXT CL E G H | 6862 | 11515 | OMIM:182940 | Neural tube defects, susceptibility to | | | | | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | TNXB CL E G H | 7148 | 11976 | ORPHA:230839 | Classical-like Ehlers-Danlos syndrome type 1 | | | | 134 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | TRIM36 CL E G H | 55521 | 16280 | OMIM:206500 | ANENCEPHALY; ANPH | | | | 1 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | UBA2 CL E G H | 10054 | 30661 | ORPHA:1114 | Aplasia cutis congenita | HP:0040281 - Very frequent | | | | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | | | | 2 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | VANGL1 CL E G H | 81839 | 15512 | OMIM:182940 | Neural tube defects, susceptibility to | | | | 111 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | VANGL1 CL E G H | 81839 | 15512 | OMIM:600145 | Sacral defect with anterior meningocele | | | | 111 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | VANGL2 CL E G H | 57216 | 15511 | OMIM:182940 | Neural tube defects, susceptibility to | | | | 2 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | WBP11 CL E G H | 51729 | 16461 | OMIM:619227 | VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL | | | | | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | | | | 125 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | ZIC1 CL E G H | 7545 | 12872 | OMIM:616602 | Craniosynostosis 6 | | | | 5 | | |
HP:0010301 | HP:0010301 | Spinal dysraphism | 0 | ZIC1 CL E G H | 7545 | 12872 | OMIM:618736 | STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS | | | | 5 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | ACTB CL E G H | 60 | 132 | ORPHA:64755 | Becker nevus syndrome | | | | 72 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | | | | 34 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | AMER1 CL E G H | 139285 | 26837 | ORPHA:2780 | Osteopathia striata-cranial sclerosis syndrome | | | | 34 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | | | | 5 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | | | | 36 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | | | | 13 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:500 | Noonan syndrome with multiple lentigines | | | | 276 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 5769 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 7642 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1086 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | | | | 147 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | CCL2 CL E G H | 6347 | 10618 | OMIM:182940 | Neural tube defects, susceptibility to | | | | 3 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | CCNQ CL E G H | 92002 | 28434 | OMIM:300707 | Toe syndactyly, telecanthus, and anogenital and renal malformations | | | | 7 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | | | | 8 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | | | | 35 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | CHRNG CL E G H | 1146 | 1967 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | | | | 68 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | | | | 177 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | COLEC10 CL E G H | 10584 | 2220 | ORPHA:293843 | 3MC syndrome | | | | 3 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | COLEC11 CL E G H | 78989 | 17213 | ORPHA:293843 | 3MC syndrome | | | | 9 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | CUL7 CL E G H | 9820 | 21024 | OMIM:273750 | 3-M syndrome 1 | | | | 127 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | DACT1 CL E G H | 51339 | 17748 | ORPHA:63260 | Craniorachischisis | | | | 2 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | DACT1 CL E G H | 51339 | 17748 | OMIM:617466 | Townes-Brocks syndrome 2 | | | | 2 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | DARS1 CL E G H | 1615 | 2678 | OMIM:615281 | HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL | | | | | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | DLL3 CL E G H | 10683 | 2909 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | | | | 45 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 158 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 340 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 58 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | FANCB CL E G H | 2187 | 3583 | ORPHA:3412 | VACTERL with hydrocephalus | HP:0040283 - Occasional | | | 58 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 410 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 147 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 73 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 87 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 73 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 157 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 53 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 107 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | FIBP CL E G H | 9158 | 3705 | ORPHA:500095 | Tall stature-intellectual disability-renal anomalies syndrome | | | | 2 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | FLNA CL E G H | 2316 | 3754 | ORPHA:1826 | Frontometaphyseal dysplasia | | | | 493 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | FLNB CL E G H | 2317 | 3755 | OMIM:150250 | Larsen syndrome | | | | 233 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | FUZ CL E G H | 80199 | 26219 | OMIM:182940 | Neural tube defects, susceptibility to | | | | 3 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | GDF3 CL E G H | 9573 | 4218 | ORPHA:2345 | Isolated Klippel-Feil syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | GDF6 CL E G H | 392255 | 4221 | ORPHA:2345 | Isolated Klippel-Feil syndrome | HP:0040283 - Occasional | | | 64 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | HES7 CL E G H | 84667 | 15977 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | | | | 10 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | HES7 CL E G H | 84667 | 15977 | OMIM:613686 | Spondylocostal dysostosis 4, autosomal recessive | | | | 10 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | HMX1 CL E G H | 3166 | 5017 | OMIM:612109 | Oculoauricular syndrome | | | | 2 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | HRAS CL E G H | 3265 | 5173 | ORPHA:2874 | Phakomatosis pigmentokeratotica | | | | 113 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | | | | 52 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | IRF6 CL E G H | 3664 | 6121 | OMIM:119500 | Popliteal pterygium syndrome | | | | 99 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040283 - Occasional | | | 283 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040283 - Occasional | | | 283 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | | | | 13 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | LFNG CL E G H | 3955 | 6560 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | | | | 13 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | LIG4 CL E G H | 3981 | 6601 | ORPHA:235 | Dubowitz syndrome | | | | 88 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | LMX1B CL E G H | 4010 | 6654 | OMIM:161200 | Nail-Patella syndrome | . | | | 165 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | | | | 63 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | MAP3K7 CL E G H | 6885 | 6859 | ORPHA:1826 | Frontometaphyseal dysplasia | | | | 11 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | MASP1 CL E G H | 5648 | 6901 | ORPHA:293843 | 3MC syndrome | | | | 21 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | MASP1 CL E G H | 5648 | 6901 | OMIM:257920 | 3mc syndrome 1 | | | | 21 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | MEOX1 CL E G H | 4222 | 7013 | ORPHA:2345 | Isolated Klippel-Feil syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | MESP2 CL E G H | 145873 | 29659 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | | | | 45 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | MYH3 CL E G H | 4621 | 7573 | OMIM:193700 | Arthrogryposis, distal, type 2A | | | | 166 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | | | | 166 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | NEK9 CL E G H | 91754 | 18591 | ORPHA:64754 | Nevus comedonicus syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | NF1 CL E G H | 4763 | 7765 | OMIM:162200 | Neurofibromatosis, type I | | | | 1952 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | NOTCH2NLC CL E G H | 100996717 | 53924 | ORPHA:2289 | Neuronal intranuclear inclusion disease | | | | | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | NSUN2 CL E G H | 54888 | 25994 | ORPHA:235 | Dubowitz syndrome | | | | 84 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1349 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | PAX3 CL E G H | 5077 | 8617 | ORPHA:894 | Waardenburg syndrome type 1 | HP:0040283 - Occasional | | | 59 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | PAX3 CL E G H | 5077 | 8617 | OMIM:193500 | Waardenburg syndrome, type 1 | . | | | 59 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | PHGDH CL E G H | 26227 | 8923 | OMIM:256520 | Neu-Laxova syndrome | . | | | 37 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | POLA1 CL E G H | 5422 | 9173 | OMIM:301030 | Van esch-o'driscoll syndrome | | | | 2 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | | | | 20 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | HP:0040282 - Frequent | | | 20 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | PSAT1 CL E G H | 29968 | 19129 | OMIM:616038 | Neu-Laxova syndrome 2 | | | | 27 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | PTCH1 CL E G H | 5727 | 9585 | OMIM:109400 | Basal cell nevus syndrome | | | | 665 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | PTCH2 CL E G H | 8643 | 9586 | OMIM:109400 | Basal cell nevus syndrome | | | | 40 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | PTPN11 CL E G H | 5781 | 9644 | OMIM:151100 | Leopard syndrome 1 | | | | 291 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:500 | Noonan syndrome with multiple lentigines | | | | 291 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | | | | 19 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 9 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 391 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | RAF1 CL E G H | 5894 | 9829 | ORPHA:500 | Noonan syndrome with multiple lentigines | | | | 212 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | . | | | 10 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | RECQL4 CL E G H | 9401 | 9949 | OMIM:218600 | Baller-Gerold syndrome | | | | 445 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | RIPPLY2 CL E G H | 134701 | 21390 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | | | | 3 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | RORA CL E G H | 6095 | 10258 | OMIM:618060 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA | | | | 1 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | | | | 90 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | | | | 86 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | SALL4 CL E G H | 57167 | 15924 | OMIM:607323 | Duane-Radial ray syndrome | | | | 86 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | SLC25A19 CL E G H | 60386 | 14409 | ORPHA:99742 | Amish lethal microcephaly | HP:0040282 - Frequent | | | 36 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 274 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | SNRPB CL E G H | 6628 | 11153 | ORPHA:1393 | Cerebrocostomandibular syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | SUFU CL E G H | 51684 | 16466 | OMIM:109400 | Basal cell nevus syndrome | | | | 124 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | SUPT16H CL E G H | 11198 | 11465 | OMIM:619480 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC | | | | | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | | | | 271 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | TBX6 CL E G H | 6911 | 11605 | ORPHA:1797 | Autosomal dominant spondylocostal dysostosis | | | | 19 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | TBXT CL E G H | 6862 | 11515 | OMIM:182940 | Neural tube defects, susceptibility to | | | | | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | TNXB CL E G H | 7148 | 11976 | ORPHA:230839 | Classical-like Ehlers-Danlos syndrome type 1 | | | | 134 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | TRIM36 CL E G H | 55521 | 16280 | OMIM:206500 | ANENCEPHALY; ANPH | | | | 1 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 2 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | VANGL1 CL E G H | 81839 | 15512 | OMIM:182940 | Neural tube defects, susceptibility to | | | | 111 | | |
HP:0010301 | HP:0030708 | Myeloschisis | 1 | VANGL1 CL E G H | 81839 | 15512 | OMIM:600145 | Sacral defect with anterior meningocele | | | | 111 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | VANGL2 CL E G H | 57216 | 15511 | OMIM:182940 | Neural tube defects, susceptibility to | | | | 2 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | WBP11 CL E G H | 51729 | 16461 | OMIM:619227 | VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL | | | | | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 125 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | ZIC1 CL E G H | 7545 | 12872 | OMIM:616602 | Craniosynostosis 6 | | | | 5 | | |
HP:0010301 | HP:0002414 | Spina bifida | 1 | ZIC1 CL E G H | 7545 | 12872 | OMIM:618736 | STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS | | | | 5 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | ACTB CL E G H | 60 | 132 | ORPHA:64755 | Becker nevus syndrome | HP:0040283 - Occasional | | | 72 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | . | | | 34 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | AMER1 CL E G H | 139285 | 26837 | ORPHA:2780 | Osteopathia striata-cranial sclerosis syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | . | | | 219 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | HP:0040284 - Very rare | | | 5 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | . | | | 13 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | BRAF CL E G H | 673 | 1097 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040283 - Occasional | | | 276 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | . | | | 147 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | CCL2 CL E G H | 6347 | 10618 | OMIM:182940 | Neural tube defects, susceptibility to | . | | | 3 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | CCNQ CL E G H | 92002 | 28434 | OMIM:300707 | Toe syndactyly, telecanthus, and anogenital and renal malformations | . | | | 7 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | | | | 8 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | CHRNG CL E G H | 1146 | 1967 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | | | | 177 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | COLEC10 CL E G H | 10584 | 2220 | ORPHA:293843 | 3MC syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | COLEC11 CL E G H | 78989 | 17213 | ORPHA:293843 | 3MC syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | CUL7 CL E G H | 9820 | 21024 | OMIM:273750 | 3-M syndrome 1 | . | | | 127 | | |
HP:0010301 | HP:0005857 | Cervical spina bifida | 2 | DACT1 CL E G H | 51339 | 17748 | ORPHA:63260 | Craniorachischisis | HP:0040281 - Very frequent | | | 2 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | DACT1 CL E G H | 51339 | 17748 | OMIM:617466 | Townes-Brocks syndrome 2 | . | | | 2 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | DARS1 CL E G H | 1615 | 2678 | OMIM:615281 | HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL | | | | | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | DLL3 CL E G H | 10683 | 2909 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 45 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 172 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | FIBP CL E G H | 9158 | 3705 | ORPHA:500095 | Tall stature-intellectual disability-renal anomalies syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | FLNA CL E G H | 2316 | 3754 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040283 - Occasional | | | 493 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | FLNB CL E G H | 2317 | 3755 | OMIM:150250 | Larsen syndrome | . | | | 233 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | FUZ CL E G H | 80199 | 26219 | OMIM:182940 | Neural tube defects, susceptibility to | . | | | 3 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | HES7 CL E G H | 84667 | 15977 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 10 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | HES7 CL E G H | 84667 | 15977 | OMIM:613686 | Spondylocostal dysostosis 4, autosomal recessive | . | | | 10 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | HMX1 CL E G H | 3166 | 5017 | OMIM:612109 | Oculoauricular syndrome | | | | 2 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | HP:0040283 - Occasional | | | 52 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | IRF6 CL E G H | 3664 | 6121 | OMIM:119500 | Popliteal pterygium syndrome | . | | | 99 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | . | | | 13 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | LFNG CL E G H | 3955 | 6560 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 13 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | LIG4 CL E G H | 3981 | 6601 | ORPHA:235 | Dubowitz syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | MAP3K7 CL E G H | 6885 | 6859 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040283 - Occasional | | | 11 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | MASP1 CL E G H | 5648 | 6901 | ORPHA:293843 | 3MC syndrome | HP:0040282 - Frequent | | | 21 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | MASP1 CL E G H | 5648 | 6901 | OMIM:257920 | 3mc syndrome 1 | . | | | 21 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | MESP2 CL E G H | 145873 | 29659 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 45 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | MYH3 CL E G H | 4621 | 7573 | OMIM:193700 | Arthrogryposis, distal, type 2A | . | | | 166 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | HP:0040283 - Occasional | | | 166 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | NEK9 CL E G H | 91754 | 18591 | ORPHA:64754 | Nevus comedonicus syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | NOTCH2NLC CL E G H | 100996717 | 53924 | ORPHA:2289 | Neuronal intranuclear inclusion disease | HP:0040282 - Frequent | | | | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | NSUN2 CL E G H | 54888 | 25994 | ORPHA:235 | Dubowitz syndrome | HP:0040283 - Occasional | | | 84 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | POLA1 CL E G H | 5422 | 9173 | OMIM:301030 | Van esch-o'driscoll syndrome | . | | | 2 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | PTPN11 CL E G H | 5781 | 9644 | OMIM:151100 | Leopard syndrome 1 | . | | | 291 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040283 - Occasional | | | 291 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | . | | | 31 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | RAF1 CL E G H | 5894 | 9829 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040283 - Occasional | | | 212 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | RECQL4 CL E G H | 9401 | 9949 | OMIM:218600 | Baller-Gerold syndrome | . | | | 445 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | RIPPLY2 CL E G H | 134701 | 21390 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 3 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | RORA CL E G H | 6095 | 10258 | OMIM:618060 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA | | | | 1 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | HP:0040282 - Frequent | | | 90 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | SALL4 CL E G H | 57167 | 15924 | OMIM:607323 | Duane-Radial ray syndrome | . | | | 86 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | HP:0040284 - Very rare | | | 271 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | TBX6 CL E G H | 6911 | 11605 | ORPHA:1797 | Autosomal dominant spondylocostal dysostosis | HP:0040283 - Occasional | | | 19 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | TBXT CL E G H | 6862 | 11515 | OMIM:182940 | Neural tube defects, susceptibility to | . | | | | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | TNXB CL E G H | 7148 | 11976 | ORPHA:230839 | Classical-like Ehlers-Danlos syndrome type 1 | HP:0040283 - Occasional | | | 134 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | VANGL1 CL E G H | 81839 | 15512 | OMIM:182940 | Neural tube defects, susceptibility to | . | | | 111 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | VANGL2 CL E G H | 57216 | 15511 | OMIM:182940 | Neural tube defects, susceptibility to | . | | | 2 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | WBP11 CL E G H | 51729 | 16461 | OMIM:619227 | VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL | | | | | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | ZIC1 CL E G H | 7545 | 12872 | OMIM:616602 | Craniosynostosis 6 | HP:0040283 - Occasional | | | 5 | | |
HP:0010301 | HP:0003298 | Spina bifida occulta | 2 | ZIC1 CL E G H | 7545 | 12872 | OMIM:618736 | STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS | | | | 5 | | |
HP:0010301 | HP:0004614 | Spina bifida occulta at S1 | 3 | CL E G H | | | | | | | | | | |
HP:0010301 | HP:0004601 | Spina bifida occulta at L5 | 3 | CL E G H | | | | | | | | | | |