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:0001537 | HP:0001537 | Umbilical hernia | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040282 - Frequent | | | 245 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | ABCC9 CL E G H | 10060 | 60 | OMIM:239850 | Hypertrichotic osteochondrodysplasia | . | | | 254 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | ABCC9 CL E G H | 10060 | 60 | ORPHA:1517 | Hypertrichotic osteochondrodysplasia, Cantu type | HP:0040282 - Frequent | | | 254 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | ACTG2 CL E G H | 72 | 145 | ORPHA:2604 | Familial visceral myopathy | HP:0040283 - Occasional | | | 23 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | ACTG2 CL E G H | 72 | 145 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | HP:0040283 - Occasional | | | 23 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | ADAMTS2 CL E G H | 9509 | 218 | OMIM:225410 | Ehlers-Danlos syndrome, type VII, autosomal recessive | . | | | 165 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | HP:0040284 - Very rare | | | 47 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | AEBP1 CL E G H | 165 | 303 | ORPHA:536532 | Classical-like Ehlers-Danlos syndrome type 2 | HP:0040282 - Frequent | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | AEBP1 CL E G H | 165 | 303 | OMIM:618000 | Ehlers-Danlos syndrome, classic-like, 2 | . | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | AGA CL E G H | 175 | 318 | ORPHA:93 | Aspartylglucosaminuria | HP:0040281 - Very frequent | | | 76 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | AGPAT2 CL E G H | 10555 | 325 | OMIM:608594 | Lipodystrophy, congenital generalized, type 1 | . | | | 85 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:219150 | Cutis laxa, autosomal recessive, type IIIA | . | | | 89 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | ANTXR1 CL E G H | 84168 | 21014 | ORPHA:2067 | GAPO syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | ANTXR1 CL E G H | 84168 | 21014 | OMIM:230740 | Gapo syndrome | . | | | 8 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | . | | | 219 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | ARSB CL E G H | 411 | 714 | OMIM:253200 | Mucopolysaccharidosis, type VI | . | | | 120 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 166 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | ATAD1 CL E G H | 84896 | 25903 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040282 - Frequent | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | ATAD1 CL E G H | 84896 | 25903 | OMIM:618011 | Hyperekplexia 4 | . | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:2834 | Wrinkly skin syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:278250 | Wrinkly skin syndrome | . | | | 140 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:565 | Menkes disease | HP:0040281 - Very frequent | | | 192 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | . | | | 169 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | AUTS2 CL E G H | 26053 | 14262 | ORPHA:352490 | Autism spectrum disorder due to AUTS2 deficiency | HP:0040283 - Occasional | | | 61 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | AUTS2 CL E G H | 26053 | 14262 | OMIM:615834 | Mental retardation, autosomal dominant 26 | | | | 61 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | . | | | 36 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | BCL11B CL E G H | 64919 | 13222 | OMIM:617237 | Immunodeficiency 49 | . | | | 3 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | HP:0040283 - Occasional | | | 101 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | BMP1 CL E G H | 649 | 1067 | OMIM:614856 | Osteogenesis imperfecta, type XIII | HP:0040283 - Occasional | | | 49 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 5769 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 7642 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1086 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:269700 | Lipodystrophy, congenital generalized, type 2 | . | | | 105 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | C1R CL E G H | 715 | 1246 | OMIM:130080 | Ehlers-Danlos syndrome, periodontal type, 1 | | | | 15 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | C1S CL E G H | 716 | 1247 | OMIM:617174 | Ehlers-Danlos syndrome, periodontal type, 2 | . | | | 7 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | CASK CL E G H | 8573 | 1497 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 118 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | . | | | 147 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | CDCA7 CL E G H | 83879 | 14628 | ORPHA:2268 | ICF syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | HP:0040284 - Very rare | | | 2 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 405 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | CHAMP1 CL E G H | 283489 | 20311 | OMIM:616579 | Mental retardation, autosomal dominant 40 | | | | 16 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | . | | | 515 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | CHRNG CL E G H | 1146 | 1967 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | HP:0040282 - Frequent | | | 68 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | . | | | 68 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | CHST14 CL E G H | 113189 | 24464 | OMIM:601776 | Ehlers-Danlos syndrome, musculocontractural type 1 | . | | | 27 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | CLDN19 CL E G H | 149461 | 2040 | ORPHA:2196 | Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement | HP:0040283 - Occasional | | | 42 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 373 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:156550 | Kniest dysplasia | . | | | 284 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 749 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 660 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | COL5A1 CL E G H | 1289 | 2209 | OMIM:130000 | Ehlers-danlos syndrome, type I | . | | | 660 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 325 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | COLEC10 CL E G H | 10584 | 2220 | ORPHA:293843 | 3MC syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | COLEC11 CL E G H | 78989 | 17213 | ORPHA:293843 | 3MC syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:618332 | MENKE-HENNEKAM SYNDROME 1; MKHK1 | | | | 291 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | DGCR2 CL E G H | 9993 | 2845 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | DGCR6 CL E G H | 8214 | 2846 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | DGCR8 CL E G H | 54487 | 2847 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254534 | Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation | HP:0040283 - Occasional | | | 1 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040282 - Frequent | | | 1 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | DLL3 CL E G H | 10683 | 2909 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 45 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 3 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | DNMT3A CL E G H | 1788 | 2978 | OMIM:615879 | Tatton-Brown-Rahman syndrome | HP:0040283 - Occasional | | | 44 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:404443 | Tatton-Brown-Rahman syndrome | HP:0040284 - Very rare | | | 44 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | DNMT3B CL E G H | 1789 | 2979 | ORPHA:2268 | ICF syndrome | HP:0040283 - Occasional | | | 79 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040282 - Frequent | | | 121 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:226316 | Genetic transient congenital hypothyroidism | HP:0040283 - Occasional | | | 121 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | DUOXA2 CL E G H | 405753 | 32698 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040282 - Frequent | | | 11 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | . | | | 14 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:616331 | Robinow syndrome, autosomal dominant 2 | HP:0040283 - Occasional | | | 14 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | EED CL E G H | 8726 | 3188 | OMIM:617561 | Cohen-Gibson syndrome | | | | 4 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | EFNB1 CL E G H | 1947 | 3226 | OMIM:304110 | Craniofrontonasal syndrome | . | | | 27 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | HP:0040284 - Very rare | | | 223 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | ELMO2 CL E G H | 63916 | 17233 | OMIM:606893 | Vascular malformation, primary intraosseous | . | | | 3 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 172 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | EN1 CL E G H | 2019 | 3342 | OMIM:619218 | ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB | | | | 1 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | EOGT CL E G H | 285203 | 28526 | OMIM:615297 | Adams-Oliver syndrome 4 | HP:0040283 - Occasional | | | 4 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 158 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | ESS2 CL E G H | 8220 | 16817 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | . | | | 81 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 340 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 58 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 410 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 147 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 73 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 87 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 73 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 157 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 53 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 107 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | FBLN5 CL E G H | 10516 | 3602 | OMIM:219100 | Cutis laxa, autosomal recessive, type IA | . | | | 63 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040282 - Frequent | | | 1361 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:608328 | Weill-Marchesani syndrome 2, dominant | | | | 1361 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | FBXW11 CL E G H | 23291 | 13607 | OMIM:618914 | NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED | | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | FGD1 CL E G H | 2245 | 3663 | ORPHA:915 | Aarskog-Scott syndrome | HP:0040281 - Very frequent | | | 62 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1555 | Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | FKBP14 CL E G H | 55033 | 18625 | OMIM:614557 | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | HP:0040283 - Occasional | | | 13 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:75497 | X-linked Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 493 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | FRAS1 CL E G H | 80144 | 19185 | ORPHA:2052 | Fraser syndrome | HP:0040283 - Occasional | | | 353 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | FREM2 CL E G H | 341640 | 25396 | ORPHA:2052 | Fraser syndrome | HP:0040283 - Occasional | | | 263 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | FTO CL E G H | 79068 | 24678 | OMIM:612938 | Growth retardation, developmental delay, coarse facies, and earlydeath | . | | | 70 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | GATA6 CL E G H | 2627 | 4174 | OMIM:600001 | Pancreatic agenesis and congenital heart defects | | | | 37 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | GATA6 CL E G H | 2627 | 4174 | ORPHA:2255 | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | HP:0040284 - Very rare | | | 37 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | HP:0040283 - Occasional | | | 68 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:380 | Greig cephalopolysyndactyly syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:175700 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | GLIS3 CL E G H | 169792 | 28510 | OMIM:610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | HP:0040283 - Occasional | | | 143 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | GLRA1 CL E G H | 2741 | 4326 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040282 - Frequent | | | 63 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | GLRA1 CL E G H | 2741 | 4326 | OMIM:149400 | Hyperekplexia 1 | . | | | 63 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | GLRB CL E G H | 2743 | 4329 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040282 - Frequent | | | 46 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | GMNN CL E G H | 51053 | 17493 | OMIM:616835 | Meier-Gorlin syndrome 6 | | | | 3 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | GNAO1 CL E G H | 2775 | 4389 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 36 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | HP:0040281 - Very frequent | | | 240 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040282 - Frequent | | | 73 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040282 - Frequent | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | GPC6 CL E G H | 10082 | 4454 | OMIM:258315 | Omodysplasia 1 | . | | | 99 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | GPHN CL E G H | 10243 | 15465 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040282 - Frequent | | | 18 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | GPHN CL E G H | 10243 | 15465 | OMIM:149400 | Hyperekplexia 1 | . | | | 18 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 108 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | GRIP1 CL E G H | 23426 | 18708 | ORPHA:2052 | Fraser syndrome | HP:0040283 - Occasional | | | 80 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | GRM7 CL E G H | 2917 | 4599 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 5 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | GUSB CL E G H | 2990 | 4696 | ORPHA:584 | Mucopolysaccharidosis type 7 | HP:0040281 - Very frequent | | | 54 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | GUSB CL E G H | 2990 | 4696 | OMIM:253220 | Mucopolysaccharidosis, type VII | . | | | 54 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | H19 CL E G H | 283120 | 4713 | ORPHA:231144 | Silver-Russell syndrome due to 11p15 microduplication | HP:0040283 - Occasional | | | 4 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | H4C3 CL E G H | 8364 | 4787 | OMIM:619758 | TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1 | | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | HDAC4 CL E G H | 9759 | 14063 | ORPHA:1001 | 2q37 microdeletion syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | HELLS CL E G H | 3070 | 4861 | ORPHA:2268 | ICF syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | HES7 CL E G H | 84667 | 15977 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 10 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 21 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | HIVEP2 CL E G H | 3097 | 4921 | OMIM:616977 | Mental retardation, autosomal dominant 43 | | | | 13 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | HP:0040283 - Occasional | | | 345 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | . | | | 345 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | HYMAI CL E G H | 57061 | 5326 | ORPHA:96191 | Paternal uniparental disomy of chromosome 6 | HP:0040281 - Very frequent | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | HYMAI CL E G H | 57061 | 5326 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040282 - Frequent | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | HP:0040282 - Frequent | | | 86 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | HP:0040282 - Frequent | | | 86 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | . | | | 86 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | . | | | 115 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607015 | Hurler-Scheie syndrome | . | | | 115 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | IGF2 CL E G H | 3481 | 5466 | ORPHA:231144 | Silver-Russell syndrome due to 11p15 microduplication | HP:0040283 - Occasional | | | 9 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | HP:0040283 - Occasional | | | 52 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:199302 | Isolated cleft lip | HP:0040284 - Very rare | | | 99 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | ISL1 CL E G H | 3670 | 6132 | ORPHA:93930 | Bladder exstrophy | HP:0040281 - Very frequent | | | 2 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | IYD CL E G H | 389434 | 21071 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040282 - Frequent | | | 130 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 145 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | . | | | 13 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040282 - Frequent | | | 127 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | KCNJ8 CL E G H | 3764 | 6269 | ORPHA:1517 | Hypertrichotic osteochondrodysplasia, Cantu type | HP:0040282 - Frequent | | | 23 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | KDM3B CL E G H | 51780 | 1337 | OMIM:618846 | DIETS-JONGMANS SYNDROME; DIJOS | | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | KMT2C CL E G H | 58508 | 13726 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | HP:0040284 - Very rare | | | 99 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 1 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | KNSTRN CL E G H | 90417 | 30767 | OMIM:613328 | Roifman-Chitayat syndrome | . | | | 1 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | LBR CL E G H | 3930 | 6518 | OMIM:169400 | Pelger-Huet anomaly | | | | 70 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | LFNG CL E G H | 3955 | 6560 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 13 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 51 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 43 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | LMOD1 CL E G H | 25802 | 6647 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | HP:0040283 - Occasional | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | LRP2 CL E G H | 4036 | 6694 | OMIM:222448 | Donnai-Barrow syndrome | | | | 289 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | LRP2 CL E G H | 4036 | 6694 | ORPHA:2143 | Donnai-Barrow syndrome | HP:0040282 - Frequent | | | 289 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | LTBP4 CL E G H | 8425 | 6717 | OMIM:613177 | Cutis laxa, autosomal recessive, type IC | . | | | 92 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | HP:0040283 - Occasional | | | 136 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | MAPRE2 CL E G H | 10982 | 6891 | ORPHA:2505 | Multiple benign circumferential skin creases on limbs | HP:0040283 - Occasional | | | 4 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | MASP1 CL E G H | 5648 | 6901 | ORPHA:293843 | 3MC syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | . | | | 22 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | MED12 CL E G H | 9968 | 11957 | ORPHA:93932 | FG syndrome type 1 | HP:0040283 - Occasional | | | 228 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:305450 | Opitz-Kaveggia syndrome | . | | | 228 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | MED13L CL E G H | 23389 | 22962 | ORPHA:369891 | Developmental delay-facial dysmorphism syndrome due to MED13L deficiency | HP:0040283 - Occasional | | | 74 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254534 | Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation | HP:0040283 - Occasional | | | 1 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040282 - Frequent | | | 1 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | MEGF8 CL E G H | 1954 | 3233 | ORPHA:65759 | Carpenter syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | HP:0040283 - Occasional | | | 13 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | MESP2 CL E G H | 145873 | 29659 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 45 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | MID1 CL E G H | 4281 | 7095 | ORPHA:2745 | Opitz GBBB syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | MID1 CL E G H | 4281 | 7095 | OMIM:300000 | Opitz gbbb syndrome, type I | | | | 57 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | MSX1 CL E G H | 4487 | 7391 | ORPHA:199302 | Isolated cleft lip | HP:0040284 - Very rare | | | 12 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | MTOR CL E G H | 2475 | 3942 | OMIM:616638 | Smith-Kingsmore syndrome | . | | | 68 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | MYH11 CL E G H | 4629 | 7569 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | HP:0040283 - Occasional | | | 418 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | HP:0040282 - Frequent | | | 166 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | MYLK CL E G H | 4638 | 7590 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | HP:0040283 - Occasional | | | 326 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | NALCN CL E G H | 259232 | 19082 | OMIM:616266 | Congenital contractures of the limbs and face, hypotonia, and developmental delay | . | | | 48 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:199302 | Isolated cleft lip | HP:0040284 - Very rare | | | 4 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93400 | Congenital sialidosis type 2 | HP:0040283 - Occasional | | | 43 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93399 | Juvenile sialidosis type 2 | HP:0040283 - Occasional | | | 43 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | NEUROD2 CL E G H | 4761 | 7763 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | . | | | 40 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:95712 | Thyroid ectopia | HP:0040281 - Very frequent | | | 90 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | NOTCH1 CL E G H | 4851 | 7881 | OMIM:616028 | Adams-Oliver syndrome 5 | HP:0040283 - Occasional | | | 452 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:102500 | Hajdu-Cheney syndrome | . | | | 138 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:2789 | Lateral meningocele syndrome | HP:0040282 - Frequent | | | 144 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | NOTCH3 CL E G H | 4854 | 7883 | OMIM:130720 | Lateral meningocele syndrome | . | | | 144 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 544 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | . | | | 34 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | OCLN CL E G H | 100506658 | 8104 | OMIM:251290 | Band-Like calcification with simplified gyration and polymicrogyria | | | | 23 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | OCRL CL E G H | 4952 | 8108 | OMIM:300555 | Dent disease 2 | HP:0040283 - Occasional | | | 88 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040283 - Occasional | | | 88 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | PACS1 CL E G H | 55690 | 30032 | ORPHA:329224 | Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome | HP:0040283 - Occasional | | | 24 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1349 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | PAX8 CL E G H | 7849 | 8622 | OMIM:218700 | Hypothyroidism, congenital, nongoitrous, 2 | . | | | 63 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | PAX8 CL E G H | 7849 | 8622 | ORPHA:95712 | Thyroid ectopia | HP:0040281 - Very frequent | | | 63 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | PHGDH CL E G H | 26227 | 8923 | ORPHA:79351 | 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form | HP:0040283 - Occasional | | | 37 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | PIGP CL E G H | 51227 | 3046 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 2 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | PIGQ CL E G H | 9091 | 14135 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 3 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 9 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | PIK3CD CL E G H | 5293 | 8977 | OMIM:613328 | Roifman-Chitayat syndrome | . | | | 9 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:96191 | Paternal uniparental disomy of chromosome 6 | HP:0040281 - Very frequent | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040282 - Frequent | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | PLOD1 CL E G H | 5351 | 9081 | ORPHA:1900 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | HP:0040283 - Occasional | | | 105 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | PNKP CL E G H | 11284 | 9154 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 244 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | POLR3GL CL E G H | 84265 | 28466 | OMIM:619234 | SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM | | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | HP:0040283 - Occasional | | | 20 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 36 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | PPP2CA CL E G H | 5515 | 9299 | OMIM:618354 | Neurodevelopmental disorder and language delay with or without structural brain abnormalities | . | | | 2 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | PRDM5 CL E G H | 11107 | 9349 | OMIM:614170 | Brittle cornea syndrome 2 | HP:0040283 - Occasional | | | 58 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | PRKG2 CL E G H | 5593 | 9416 | OMIM:619636 | ACROMESOMELIC DYSPLASIA 4; AMD4 | | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 54 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:77301 | Monosomy 9q22.3 | HP:0040281 - Very frequent | | | 665 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | RAB23 CL E G H | 51715 | 14263 | ORPHA:65759 | Carpenter syndrome | HP:0040283 - Occasional | | | 31 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | RAC1 CL E G H | 5879 | 9801 | OMIM:617751 | Mental retardation, autosomal dominant 48 | | | | 3 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | RAC1 CL E G H | 5879 | 9801 | ORPHA:500159 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | HP:0040283 - Occasional | | | 3 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 9 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 391 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | RIN2 CL E G H | 54453 | 18750 | OMIM:613075 | Macs syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | RIN2 CL E G H | 54453 | 18750 | ORPHA:217335 | RIN2 syndrome | HP:0040282 - Frequent | | | 43 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | RIPPLY2 CL E G H | 134701 | 21390 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 3 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | RNF2 CL E G H | 6045 | 10061 | OMIM:619460 | LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM | | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040282 - Frequent | | | 120 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | . | | | 120 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254534 | Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation | HP:0040283 - Occasional | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040282 - Frequent | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | . | | | 124 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 126 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 427 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | SEC31A CL E G H | 22872 | 17052 | OMIM:618651 | HALPERIN-BIRK SYNDROME; HLBKS | | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040283 - Occasional | | | 143 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 60 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | SGSH CL E G H | 6448 | 10818 | OMIM:252900 | Mucopolysaccharidosis type IIIA | | | | 97 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | SH3PXD2B CL E G H | 285590 | 29242 | ORPHA:137834 | Frank-Ter Haar syndrome | HP:0040283 - Occasional | | | 134 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | SHANK3 CL E G H | 85358 | 14294 | ORPHA:48652 | Monosomy 22q13.3 | HP:0040283 - Occasional | | | 53 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | SIK1 CL E G H | 150094 | 11142 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 11 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | SKI CL E G H | 6497 | 10896 | OMIM:182212 | Shprintzen-Goldberg craniosynostosis syndrome | | | | 150 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | SLC25A22 CL E G H | 79751 | 19954 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 166 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | SLC25A24 CL E G H | 29957 | 20662 | ORPHA:2095 | Gorlin-Chaudhry-Moss syndrome | HP:0040282 - Frequent | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | SLC25A24 CL E G H | 29957 | 20662 | ORPHA:2963 | Progeroid syndrome, Petty type | HP:0040281 - Very frequent | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93298 | Achondrogenesis type 1B | HP:0040282 - Frequent | | | 166 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:600972 | Achondrogenesis, type IB | . | | | 166 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | SLC2A10 CL E G H | 81031 | 13444 | OMIM:208050 | Arterial tortuosity syndrome | . | | | 178 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | HP:0040283 - Occasional | | | 71 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | SLC35D1 CL E G H | 23169 | 20800 | OMIM:269250 | Schneckenbecken dysplasia | | | | 9 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | SLC5A5 CL E G H | 6528 | 11040 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040282 - Frequent | | | 59 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | SLC5A5 CL E G H | 6528 | 11040 | OMIM:274400 | Thyroid hormonogenesis, genetic defect in, 1 | . | | | 59 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | SLC6A5 CL E G H | 9152 | 11051 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040282 - Frequent | | | 81 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 274 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | SMAD3 CL E G H | 4088 | 6769 | ORPHA:284984 | Aneurysm-osteoarthritis syndrome | HP:0040282 - Frequent | | | 260 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | SMAD3 CL E G H | 4088 | 6769 | OMIM:613795 | LOEYS-DIETZ SYNDROME 3; LDS3 | | | | 260 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | SNIP1 CL E G H | 79753 | 30587 | OMIM:614501 | Psychomotor retardation, epilepsy, and craniofacial dysmorphism | . | | | 3 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | SOX6 CL E G H | 55553 | 16421 | OMIM:618971 | TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS | | | | 1 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | SPECC1L CL E G H | 23384 | 29022 | ORPHA:1519 | SPECC1L-related hypertelorism syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | SUZ12 CL E G H | 23512 | 17101 | OMIM:618786 | IMAGAWA-MATSUMOTO SYNDROME; IMMAS | | | | 1 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | . | | | 32 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:192430 | Velocardiofacial syndrome | | | | 32 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | TENT5A CL E G H | 55603 | 18345 | OMIM:617952 | Osteogenesis imperfecta, type XVIII | | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | TG CL E G H | 7038 | 11764 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040282 - Frequent | | | 155 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | TGDS CL E G H | 23483 | 20324 | OMIM:616145 | Catel-Manzke syndrome | . | | | 6 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | TGFBR2 CL E G H | 7048 | 11773 | OMIM:610168 | Loeys-Dietz syndrome 2 | HP:0040283 - Occasional | | | 253 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | TMEM70 CL E G H | 54968 | 26050 | OMIM:614052 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 2 | . | | | 63 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | TOR1A CL E G H | 1861 | 3098 | OMIM:618947 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5 | | | | 47 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:93930 | Bladder exstrophy | HP:0040281 - Very frequent | | | 140 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:199302 | Isolated cleft lip | HP:0040284 - Very rare | | | 140 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | TPO CL E G H | 7173 | 12015 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040282 - Frequent | | | 92 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | TRAF7 CL E G H | 84231 | 20456 | OMIM:618164 | Cardiac, facial, and digital anomalies with developmental delay | . | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | TRIM8 CL E G H | 81603 | 15579 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 1 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | TRIP11 CL E G H | 9321 | 12305 | ORPHA:93299 | Achondrogenesis type 1A | HP:0040282 - Frequent | | | 133 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | . | | | 2 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | TSHB CL E G H | 7252 | 12372 | OMIM:275100 | Hypothyroidism, congenital, nongoitrous, 4 | . | | | 9 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | HP:0040282 - Frequent | | | 9 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | TSHR CL E G H | 7253 | 12373 | ORPHA:90673 | Hypothyroidism due to TSH receptor mutations | HP:0040283 - Occasional | | | 97 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | TUBB CL E G H | 203068 | 20778 | ORPHA:2505 | Multiple benign circumferential skin creases on limbs | HP:0040283 - Occasional | | | 14 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:920 | Ablepharon macrostomia syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 2 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 98 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | . | | | 98 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 125 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | ZBTB24 CL E G H | 9841 | 21143 | ORPHA:2268 | ICF syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | ZBTB7A CL E G H | 51341 | 18078 | OMIM:619769 | MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH | | | | | | |
HP:0001537 | HP:0001537 | Umbilical hernia | 0 | ZFP57 CL E G H | 346171 | 18791 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040282 - Frequent | | | 30 | | |