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:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99886 | Transient neonatal diabetes mellitus | | | | 245 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ABCC9 CL E G H | 10060 | 60 | OMIM:239850 | Hypertrichotic osteochondrodysplasia | | | | 254 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ABCC9 CL E G H | 10060 | 60 | ORPHA:1517 | Hypertrichotic osteochondrodysplasia, Cantu type | | | | 254 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ABCD4 CL E G H | 5826 | 68 | OMIM:614857 | Methylmalonic aciduria and homocystinuria, Cblj type | | | | 53 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ACTA2 CL E G H | 59 | 130 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 94 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ACTG2 CL E G H | 72 | 145 | ORPHA:2604 | Familial visceral myopathy | | | | 23 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ACTG2 CL E G H | 72 | 145 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | | | | 23 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ADAMTS2 CL E G H | 9509 | 218 | ORPHA:1901 | Dermatosparaxis Ehlers-Danlos syndrome | | | | 165 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ADAMTS2 CL E G H | 9509 | 218 | OMIM:225410 | Ehlers-Danlos syndrome, type VII, autosomal recessive | | | | 165 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ADAMTSL2 CL E G H | 9719 | 14631 | ORPHA:1901 | Dermatosparaxis Ehlers-Danlos syndrome | | | | 72 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | | | | 47 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | AEBP1 CL E G H | 165 | 303 | ORPHA:536532 | Classical-like Ehlers-Danlos syndrome type 2 | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | AEBP1 CL E G H | 165 | 303 | OMIM:618000 | Ehlers-Danlos syndrome, classic-like, 2 | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | AGA CL E G H | 175 | 318 | ORPHA:93 | Aspartylglucosaminuria | | | | 76 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | AGPAT2 CL E G H | 10555 | 325 | OMIM:608594 | Lipodystrophy, congenital generalized, type 1 | | | | 85 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 89 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:219150 | Cutis laxa, autosomal recessive, type IIIA | | | | 89 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | | | | 93 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ALG9 CL E G H | 79796 | 15672 | OMIM:263210 | Gillessen-Kaesbach-Nishimura syndrome | | | | 93 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | | | | 34 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | AMH CL E G H | 268 | 464 | ORPHA:2856 | Persistent Müllerian duct syndrome | | | | 9 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | AMH CL E G H | 268 | 464 | OMIM:261550 | Persistent mullerian duct syndrome, types I and II | | | | 9 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | AMHR2 CL E G H | 269 | 465 | ORPHA:2856 | Persistent Müllerian duct syndrome | | | | 8 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | AMHR2 CL E G H | 269 | 465 | OMIM:261550 | Persistent mullerian duct syndrome, types I and II | | | | 8 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ANTXR1 CL E G H | 84168 | 21014 | OMIM:230740 | Gapo syndrome | | | | 8 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ANTXR1 CL E G H | 84168 | 21014 | ORPHA:2067 | GAPO syndrome | | | | 8 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | AP1S2 CL E G H | 8905 | 560 | ORPHA:1568 | X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome | | | | 13 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | | | | 1 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | AR CL E G H | 367 | 644 | OMIM:300068 | Androgen insensitivity syndrome | | | | 125 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | AR CL E G H | 367 | 644 | ORPHA:95706 | Non-syndromic posterior hypospadias | | | | 125 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ARID1A CL E G H | 8289 | 11110 | OMIM:614607 | Coffin-Siris syndrome 2 | | | | 88 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ARPC4 CL E G H | 10093 | 707 | OMIM:620141 | | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ARSB CL E G H | 411 | 714 | OMIM:253200 | Mucopolysaccharidosis, type VI | | | | 120 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 1 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:2508 | Corpus callosum agenesis-abnormal genitalia syndrome | | | | 166 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 166 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ATAD1 CL E G H | 84896 | 25903 | ORPHA:3197 | Hereditary hyperekplexia | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ATAD1 CL E G H | 84896 | 25903 | OMIM:618011 | Hyperekplexia 4 | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ATP1A2 CL E G H | 477 | 800 | OMIM:619602 | FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD | | | | 239 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | | | | 140 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:219200 | Cutis laxa, autosomal recessive, type IIA | | | | 140 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:278250 | Wrinkly skin syndrome | | | | 140 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:2834 | Wrinkly skin syndrome | | | | 140 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ATP6V1A CL E G H | 523 | 851 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | | | | 3 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ATP6V1A CL E G H | 523 | 851 | OMIM:617403 | Cutis laxa, autosomal recessive, type IID | | | | 3 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ATP6V1E1 CL E G H | 529 | 857 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | | | | 2 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:565 | Menkes disease | | | | 192 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:198 | Occipital horn syndrome | | | | 192 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | | | | 169 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | AUTS2 CL E G H | 26053 | 14262 | ORPHA:352490 | Autism spectrum disorder due to AUTS2 deficiency | | | | 61 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | AUTS2 CL E G H | 26053 | 14262 | OMIM:615834 | Mental retardation, autosomal dominant 26 | | | | 61 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 5 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | | | | 36 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | | | | 36 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | BCL11B CL E G H | 64919 | 13222 | OMIM:617237 | Immunodeficiency 49 | | | | 3 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | | | | 101 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | BCR CL E G H | 613 | 1014 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | | | | 5 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | BHLHA9 CL E G H | 727857 | 35126 | ORPHA:3329 | Tibial aplasia-ectrodactyly syndrome | | | | 4 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | BMP1 CL E G H | 649 | 1067 | OMIM:614856 | Osteogenesis imperfecta, type XIII | | | | 49 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | BMPER CL E G H | 168667 | 24154 | OMIM:608022 | DIAPHANOSPONDYLODYSOSTOSIS | | | | 78 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | BRAT1 CL E G H | 221927 | 21701 | OMIM:614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | | | | 20 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | | | | 5769 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | | | | 7642 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | | | | 7 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | | | | 1086 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:269700 | Lipodystrophy, congenital generalized, type 2 | | | | 105 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | C1R CL E G H | 715 | 1246 | OMIM:130080 | Ehlers-Danlos syndrome, periodontal type, 1 | | | | 15 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | C1S CL E G H | 716 | 1247 | OMIM:617174 | Ehlers-Danlos syndrome, periodontal type, 2 | | | | 7 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | CASK CL E G H | 8573 | 1497 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 118 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | CBS CL E G H | 875 | 1550 | OMIM:236200 | Homocystinuria due to cystathionine beta-synthase deficiency | | | | 242 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 247 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | | | | 147 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | | | | 33 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | CD96 CL E G H | 10225 | 16892 | OMIM:211750 | C syndrome | | | | 83 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | CD96 CL E G H | 10225 | 16892 | ORPHA:1308 | C syndrome | | | | 83 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | CDC42 CL E G H | 998 | 1736 | ORPHA:487796 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | | | | 6 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | CDC42 CL E G H | 998 | 1736 | OMIM:616737 | Takenouchi-Kosaki syndrome | | | | 6 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | CDCA7 CL E G H | 83879 | 14628 | ORPHA:2268 | ICF syndrome | | | | 4 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | | | | 2 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 405 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | CDKN1C CL E G H | 1028 | 1786 | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | 114 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | CDKN1C CL E G H | 1028 | 1786 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | | | | 114 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | CEP120 CL E G H | 153241 | 26690 | OMIM:616300 | Short-Rib thoracic dysplasia 13 with or without polydactyly | | | | 7 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | CHAMP1 CL E G H | 283489 | 20311 | OMIM:616579 | Mental retardation, autosomal dominant 40 | | | | 16 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | CHRNG CL E G H | 1146 | 1967 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | | | | 68 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | | | | 68 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | CHST14 CL E G H | 113189 | 24464 | OMIM:601776 | Ehlers-Danlos syndrome, musculocontractural type 1 | | | | 27 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | CHST14 CL E G H | 113189 | 24464 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | | | | 27 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 165 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | CHUK CL E G H | 1147 | 1974 | OMIM:613630 | Fetal encasement syndrome | | | | 3 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | CLCN4 CL E G H | 1183 | 2022 | ORPHA:485350 | CLCN4-related X-linked intellectual disability syndrome | | | | 45 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | CLDN19 CL E G H | 149461 | 2040 | ORPHA:2196 | Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement | | | | 42 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:2021 | Fibrochondrogenesis | | | | 215 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:228520 | Fibrochondrogenesis 1 | | | | 215 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:2021 | Fibrochondrogenesis | | | | 222 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:1899 | Arthrochalasia Ehlers-Danlos syndrome | | | | 373 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 373 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:619115 | COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1 | | | | 373 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:1899 | Arthrochalasia Ehlers-Danlos syndrome | | | | 243 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:230851 | Cardiac-valvular Ehlers-Danlos syndrome | | | | 243 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | COL1A2 CL E G H | 1278 | 2198 | OMIM:225320 | Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form | | | | 243 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:156550 | Kniest dysplasia | | | | 284 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:184250 | Spondyloepimetaphyseal dysplasia, Strudwick type | | | | 284 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | | | | 749 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | | | | 749 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 660 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | COL5A1 CL E G H | 1289 | 2209 | OMIM:130000 | Ehlers-danlos syndrome, type I | | | | 660 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 325 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | COLEC10 CL E G H | 10584 | 2220 | ORPHA:293843 | 3MC syndrome | | | | 3 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | COLEC11 CL E G H | 78989 | 17213 | ORPHA:293843 | 3MC syndrome | | | | 9 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 6 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:618332 | MENKE-HENNEKAM SYNDROME 1; MKHK1 | | | | 291 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | CRKL CL E G H | 1399 | 2363 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | CTCF CL E G H | 10664 | 13723 | ORPHA:363611 | CTCF-related neurodevelopmental disorder | | | | 20 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | CTNND2 CL E G H | 1501 | 2516 | ORPHA:281 | Monosomy 5p | | | | 15 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | CUL4B CL E G H | 8450 | 2555 | ORPHA:85293 | X-linked intellectual disability, Cabezas type | | | | 38 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | CWC27 CL E G H | 10283 | 10664 | ORPHA:166035 | Brachydactyly-short stature-retinitis pigmentosa syndrome | | | | 4 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | DACT1 CL E G H | 51339 | 17748 | ORPHA:63260 | Craniorachischisis | | | | 2 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | DDX6 CL E G H | 1656 | 2747 | OMIM:618653 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | DGCR2 CL E G H | 9993 | 2845 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | DGCR6 CL E G H | 8214 | 2846 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | DGCR8 CL E G H | 54487 | 2847 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | DIS3L2 CL E G H | 129563 | 28648 | ORPHA:2849 | Perlman syndrome | | | | 164 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254534 | Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation | | | | 1 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | | | | 1 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 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:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | DLL3 CL E G H | 10683 | 2909 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | | | | 45 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 3 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:404443 | Tatton-Brown-Rahman syndrome | | | | 44 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | DNMT3A CL E G H | 1788 | 2978 | OMIM:615879 | Tatton-Brown-Rahman syndrome | | | | 44 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | DNMT3B CL E G H | 1789 | 2979 | ORPHA:2268 | ICF syndrome | | | | 79 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | DPH1 CL E G H | 1801 | 3003 | ORPHA:459061 | Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome | | | | 3 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | DSE CL E G H | 29940 | 21144 | OMIM:615539 | Ehlers-Danlos syndrome, musculocontractural type, 2 | | | | 13 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | DSE CL E G H | 29940 | 21144 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | | | | 13 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 121 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:226316 | Genetic transient congenital hypothyroidism | | | | 121 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | DUOXA2 CL E G H | 405753 | 32698 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 11 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | 14 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 14 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:616331 | Robinow syndrome, autosomal dominant 2 | | | | 14 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | 5 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | DVL3 CL E G H | 1857 | 3087 | OMIM:616894 | ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3 | | | | 5 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 304 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | | | | 134 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | EED CL E G H | 8726 | 3188 | OMIM:617561 | Cohen-Gibson syndrome | | | | 4 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | EED CL E G H | 8726 | 3188 | ORPHA:3447 | Weaver syndrome | | | | 4 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | EFEMP2 CL E G H | 30008 | 3219 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | | | | 45 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | EFEMP2 CL E G H | 30008 | 3219 | OMIM:614437 | Cutis laxa, autosomal recessive, type IB | | | | 45 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | EFNB1 CL E G H | 1947 | 3226 | OMIM:304110 | Craniofrontonasal syndrome | | | | 27 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:96147 | Kleefstra syndrome due to 9q34 microdeletion | | | | 223 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | | | | 223 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ELMO2 CL E G H | 63916 | 17233 | OMIM:606893 | Vascular malformation, primary intraosseous | | | | 3 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 172 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ELN CL E G H | 2006 | 3327 | OMIM:123700 | Cutis laxa, autosomal dominant 1 | | | | 172 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 172 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ELOVL4 CL E G H | 6785 | 14415 | OMIM:614457 | Ichthyosis, spastic quadriplegia, and mental retardation | | | | 62 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | EN1 CL E G H | 2019 | 3342 | OMIM:619218 | ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB | | | | 1 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | EOGT CL E G H | 285203 | 28526 | OMIM:615297 | Adams-Oliver syndrome 4 | | | | 4 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | | | | 106 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | | | | 54 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | | | | 158 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ESS2 CL E G H | 8220 | 16817 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | EZH2 CL E G H | 2146 | 3527 | ORPHA:3447 | Weaver syndrome | | | | 81 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | | | | 81 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | | | | 340 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | | | | 58 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:3412 | VACTERL with hydrocephalus | | | | 58 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | | | | 410 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | | | | 147 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | | | | 73 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | | | | 87 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | | | | 73 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | | | | 157 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | | | | 53 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | | | | 107 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FARSB CL E G H | 10056 | 17800 | OMIM:613658 | Rajab interstitial lung disease with brain calcifications | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FBLN5 CL E G H | 10516 | 3602 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 63 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FBLN5 CL E G H | 10516 | 3602 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | | | | 63 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FBLN5 CL E G H | 10516 | 3602 | OMIM:219100 | Cutis laxa, autosomal recessive, type IA | | | | 63 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 1361 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:154700 | Marfan syndrome | | | | 1361 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:2462 | Shprintzen-Goldberg syndrome | | | | 1361 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:608328 | Weill-Marchesani syndrome 2, dominant | | | | 1361 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FBXW11 CL E G H | 23291 | 13607 | OMIM:618914 | NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FGD1 CL E G H | 2245 | 3663 | ORPHA:915 | Aarskog-Scott syndrome | | | | 62 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FGD1 CL E G H | 2245 | 3663 | OMIM:305400 | Aarskog-Scott syndrome | | | | 62 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:3366 | Isolated trigonocephaly | | | | 172 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:166250 | Osteoglophonic dysplasia | | | | 172 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2645 | Osteoglosphonic dysplasia | | | | 172 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:190440 | Trigonocephaly 1 | | | | 172 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1555 | Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome | | | | 175 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FIBP CL E G H | 9158 | 3705 | ORPHA:500095 | Tall stature-intellectual disability-renal anomalies syndrome | | | | 2 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FKBP14 CL E G H | 55033 | 18625 | OMIM:614557 | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | | | | 13 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | | | | 8 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:309350 | Melnick-Needles syndrome | | | | 493 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:2484 | Melnick-Needles syndrome | | | | 493 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:90652 | Otopalatodigital syndrome type 2 | | | | 493 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:311300 | Otopalatodigital syndrome, type I | | | | 493 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:304120 | Otopalatodigital syndrome, type II | | | | 493 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:75497 | X-linked Ehlers-Danlos syndrome | | | | 493 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FLNB CL E G H | 2317 | 3755 | ORPHA:1263 | Boomerang dysplasia | | | | 233 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:272460 | Spondylocarpotarsal synostosis syndrome | | | | 233 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FOXE3 CL E G H | 2301 | 3808 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 23 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FOXF1 CL E G H | 2294 | 3809 | OMIM:265380 | Alveolar capillary dysplasia with misalignment of pulmonary veins | | | | 61 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FRAS1 CL E G H | 80144 | 19185 | ORPHA:2052 | Fraser syndrome | | | | 353 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FREM1 CL E G H | 158326 | 23399 | ORPHA:3366 | Isolated trigonocephaly | | | | 198 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FREM1 CL E G H | 158326 | 23399 | OMIM:248450 | Manitoba oculotrichoanal syndrome | | | | 198 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FREM2 CL E G H | 341640 | 25396 | ORPHA:2052 | Fraser syndrome | | | | 263 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FTO CL E G H | 79068 | 24678 | OMIM:612938 | Growth retardation, developmental delay, coarse facies, and earlydeath | | | | 70 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | | | | 37 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GAD1 CL E G H | 2571 | 4092 | OMIM:619124 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89 | | | | 44 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GALNS CL E G H | 2588 | 4122 | OMIM:253000 | Morquio syndrome A | | | | 123 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GATA6 CL E G H | 2627 | 4174 | OMIM:600001 | Pancreatic agenesis and congenital heart defects | | | | 37 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GATA6 CL E G H | 2627 | 4174 | ORPHA:2255 | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | | | | 37 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GDF1 CL E G H | 2657 | 4214 | OMIM:208530 | Right atrial isomerism (Ivemark) | | | | 28 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GDF11 CL E G H | 10220 | 4216 | OMIM:619122 | VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | | | | 68 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230500 | GM1-gangliosidosis, type I | | | | 120 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:253010 | Mucopolysaccharidosis type IVB (Morquio) | | | | 120 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:36 | Acrocallosal syndrome | | | | 270 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:380 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:175700 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | | | | 270 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GLIS3 CL E G H | 169792 | 28510 | OMIM:610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | | | | 143 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GLRA1 CL E G H | 2741 | 4326 | ORPHA:3197 | Hereditary hyperekplexia | | | | 63 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GLRA1 CL E G H | 2741 | 4326 | OMIM:149400 | Hyperekplexia 1 | | | | 63 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GLRB CL E G H | 2743 | 4329 | ORPHA:3197 | Hereditary hyperekplexia | | | | 46 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GMNN CL E G H | 51053 | 17493 | OMIM:616835 | Meier-Gorlin syndrome 6 | | | | 3 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GNAO1 CL E G H | 2775 | 4389 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 36 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GNE CL E G H | 10020 | 23657 | OMIM:269921 | SIALURIA | | | | 173 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | | | | 240 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | | | | 240 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 8 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | 73 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GPC6 CL E G H | 10082 | 4454 | OMIM:258315 | Omodysplasia 1 | | | | 99 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GPHN CL E G H | 10243 | 15465 | ORPHA:3197 | Hereditary hyperekplexia | | | | 18 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GPHN CL E G H | 10243 | 15465 | OMIM:149400 | Hyperekplexia 1 | | | | 18 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 108 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GRIN2B CL E G H | 2904 | 4586 | OMIM:613970 | Mental retardation, autosomal dominant 6, with or without seizures | | | | 274 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GRIP1 CL E G H | 23426 | 18708 | ORPHA:2052 | Fraser syndrome | | | | 80 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GRM7 CL E G H | 2917 | 4599 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 5 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | | | | 2 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GUSB CL E G H | 2990 | 4696 | ORPHA:584 | Mucopolysaccharidosis type 7 | | | | 54 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | GUSB CL E G H | 2990 | 4696 | OMIM:253220 | Mucopolysaccharidosis, type VII | | | | 54 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | H19 CL E G H | 283120 | 4713 | ORPHA:2128 | Isolated hemihyperplasia | | | | 4 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | H19 CL E G H | 283120 | 4713 | ORPHA:231144 | Silver-Russell syndrome due to 11p15 microduplication | | | | 4 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | H19-ICR CL E G H | 105259599 | | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | H4C3 CL E G H | 8364 | 4787 | OMIM:619758 | TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1 | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | HDAC4 CL E G H | 9759 | 14063 | ORPHA:1001 | 2q37 microdeletion syndrome | | | | 33 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | HELLS CL E G H | 3070 | 4861 | ORPHA:2268 | ICF syndrome | | | | 6 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | HES7 CL E G H | 84667 | 15977 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | | | | 10 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 21 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | HEY2 CL E G H | 23493 | 4881 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | HIC1 CL E G H | 3090 | 4909 | ORPHA:531 | Miller-Dieker syndrome | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 3 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | HIVEP2 CL E G H | 3097 | 4921 | OMIM:616977 | Mental retardation, autosomal dominant 43 | | | | 13 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | HMGA2 CL E G H | 8091 | 5009 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | | | | 2 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:887 | VACTERL/VATER association | | | | 25 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | | | | 345 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | | | | 345 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | HYLS1 CL E G H | 219844 | 26558 | OMIM:236680 | Hydrolethalus syndrome 1 | | | | 31 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | HYMAI CL E G H | 57061 | 5326 | ORPHA:96191 | Paternal uniparental disomy of chromosome 6 | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | HYMAI CL E G H | 57061 | 5326 | ORPHA:99886 | Transient neonatal diabetes mellitus | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | | | | 86 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | | | | 86 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | | | | 86 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | | | | 115 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607015 | Hurler-Scheie syndrome | | | | 115 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | | | | 93 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | IFT80 CL E G H | 57560 | 29262 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 65 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | IFT81 CL E G H | 28981 | 14313 | OMIM:617895 | Short-Rib thoracic dysplasia 19 with or without polydactyly | | | | 2 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | IGF2 CL E G H | 3481 | 5466 | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | 9 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | IGF2 CL E G H | 3481 | 5466 | ORPHA:2128 | Isolated hemihyperplasia | | | | 9 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | IGF2 CL E G H | 3481 | 5466 | ORPHA:231144 | Silver-Russell syndrome due to 11p15 microduplication | | | | 9 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | IGF2 CL E G H | 3481 | 5466 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | | | | 9 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | | | | 52 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 111 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:199302 | Isolated cleft lip | | | | 99 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | IRX5 CL E G H | 10265 | 14361 | OMIM:611174 | Hamamy syndrome | | | | 4 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ISL1 CL E G H | 3670 | 6132 | ORPHA:93930 | Bladder exstrophy | | | | 2 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | IYD CL E G H | 389434 | 21071 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 130 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 2 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 145 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | | | | 13 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99886 | Transient neonatal diabetes mellitus | | | | 127 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | KCNJ8 CL E G H | 3764 | 6269 | ORPHA:1517 | Hypertrichotic osteochondrodysplasia, Cantu type | | | | 23 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | 730 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | KCNQ1OT1 CL E G H | 10984 | 6295 | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | 1 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | KCNQ1OT1 CL E G H | 10984 | 6295 | ORPHA:2128 | Isolated hemihyperplasia | | | | 1 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | KDM3B CL E G H | 51780 | 1337 | OMIM:618846 | DIETS-JONGMANS SYNDROME; DIJOS | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | KDM5B CL E G H | 10765 | 18039 | OMIM:618109 | Mental retardation, autosomal recessive 65 | | | | 2 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:36 | Acrocallosal syndrome | | | | 167 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:607131 | Al-Gazali-Bakalinova syndrome | | | | 167 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | KMT2C CL E G H | 58508 | 13726 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | | | | 99 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | KNSTRN CL E G H | 90417 | 30767 | OMIM:613328 | Roifman-Chitayat syndrome | | | | 1 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | LBR CL E G H | 3930 | 6518 | OMIM:169400 | Pelger-Huet anomaly | | | | 70 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | LDHD CL E G H | 197257 | 19708 | OMIM:245450 | LACTIC ACIDURIA DUE TO D-LACTIC ACID | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | LFNG CL E G H | 3955 | 6560 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | | | | 13 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 51 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 43 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | LMOD1 CL E G H | 25802 | 6647 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | LONP1 CL E G H | 9361 | 9479 | OMIM:600373 | CODAS syndrome | | | | 8 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | LOX CL E G H | 4015 | 6664 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 6 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | LRP2 CL E G H | 4036 | 6694 | OMIM:222448 | Donnai-Barrow syndrome | | | | 289 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | LRP2 CL E G H | 4036 | 6694 | ORPHA:2143 | Donnai-Barrow syndrome | | | | 289 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | LTBP1 CL E G H | 4052 | 6714 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | LTBP1 CL E G H | 4052 | 6714 | OMIM:619451 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | LTBP4 CL E G H | 8425 | 6717 | OMIM:613177 | Cutis laxa, autosomal recessive, type IC | | | | 92 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | | | | 1 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MAF CL E G H | 4094 | 6776 | ORPHA:1272 | Aymé-Gripp syndrome | | | | 21 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MAMLD1 CL E G H | 10046 | 2568 | ORPHA:95706 | Non-syndromic posterior hypospadias | | | | 5 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MAN2B1 CL E G H | 4125 | 6826 | OMIM:248500 | Alpha-mannosidosis | | | | 136 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | | | | 136 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MAPK1 CL E G H | 5594 | 6871 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | | | | 2 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MAPRE2 CL E G H | 10982 | 6891 | ORPHA:2505 | Multiple benign circumferential skin creases on limbs | | | | 4 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MASP1 CL E G H | 5648 | 6901 | ORPHA:293843 | 3MC syndrome | | | | 21 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MASP1 CL E G H | 5648 | 6901 | OMIM:257920 | 3mc syndrome 1 | | | | 21 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MAT2A CL E G H | 4144 | 6904 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 13 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | | | | 22 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | | | | 22 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MDFIC CL E G H | 29969 | 28870 | OMIM:620014 | | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:1762 | Proximal Xq28 duplication syndrome | HP:0040282 - Frequent | | | 950 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MED12 CL E G H | 9968 | 11957 | ORPHA:93932 | FG syndrome type 1 | | | | 228 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:300895 | Ohdo syndrome, X-linked | | | | 228 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:305450 | Opitz-Kaveggia syndrome | | | | 228 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MED13L CL E G H | 23389 | 22962 | ORPHA:369891 | Developmental delay-facial dysmorphism syndrome due to MED13L deficiency | | | | 74 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | | | | 43 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254534 | Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation | | | | 1 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | | | | 1 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 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:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MEGF8 CL E G H | 1954 | 3233 | ORPHA:65759 | Carpenter syndrome | | | | 13 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | | | | 13 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MEIS2 CL E G H | 4212 | 7001 | ORPHA:261190 | 15q14 microdeletion syndrome | | | | 7 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MESP2 CL E G H | 145873 | 29659 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | | | | 45 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MFAP5 CL E G H | 8076 | 29673 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 11 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MID1 CL E G H | 4281 | 7095 | ORPHA:2745 | Opitz GBBB syndrome | | | | 57 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MID1 CL E G H | 4281 | 7095 | OMIM:300000 | Opitz gbbb syndrome, type I | | | | 57 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | | | | 127 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MMP14 CL E G H | 4323 | 7160 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | | | | 2 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MMP2 CL E G H | 4313 | 7166 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | | | | 64 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | | | | 9 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MSX1 CL E G H | 4487 | 7391 | ORPHA:199302 | Isolated cleft lip | | | | 12 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MTHFR CL E G H | 4524 | 7436 | ORPHA:563609 | Isolated anencephaly | | | | 183 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MTOR CL E G H | 2475 | 3942 | OMIM:616638 | Smith-Kingsmore syndrome | | | | 68 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MYH11 CL E G H | 4629 | 7569 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 418 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MYH11 CL E G H | 4629 | 7569 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | | | | 418 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:193700 | Arthrogryposis, distal, type 2A | | | | 166 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | | | | 166 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MYLK CL E G H | 4638 | 7590 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 326 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | MYLK CL E G H | 4638 | 7590 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | | | | 326 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | NAA10 CL E G H | 8260 | 18704 | ORPHA:276432 | Ogden syndrome | | | | 23 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | NALCN CL E G H | 259232 | 19082 | OMIM:616266 | Congenital contractures of the limbs and face, hypotonia, and developmental delay | | | | 48 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | NAT8L CL E G H | 339983 | 26742 | OMIM:614063 | N-ACETYLASPARTATE DEFICIENCY | | | | 1 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | NDUFA8 CL E G H | 4702 | 7692 | OMIM:619272 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37 | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:199302 | Isolated cleft lip | | | | 4 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | NEK9 CL E G H | 91754 | 18591 | OMIM:617022 | Lethal congenital contracture syndrome 10 | | | | 9 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93400 | Congenital sialidosis type 2 | | | | 43 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93399 | Juvenile sialidosis type 2 | | | | 43 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | NEU1 CL E G H | 4758 | 7758 | OMIM:256550 | Neuraminidase deficiency | | | | 43 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | NEUROD2 CL E G H | 4761 | 7763 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | NFIA CL E G H | 4774 | 7784 | OMIM:613735 | Brain malformations with or without urinary tract defects | | | | 12 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | | | | 40 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | | | | 494 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:95712 | Thyroid ectopia | | | | 90 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:575 | Muckle-Wells syndrome | HP:0040283 - Occasional | | | 217 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | NOTCH1 CL E G H | 4851 | 7881 | OMIM:616028 | Adams-Oliver syndrome 5 | | | | 452 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | | | | 138 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:102500 | Hajdu-Cheney syndrome | | | | 138 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:2789 | Lateral meningocele syndrome | | | | 144 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | NOTCH3 CL E G H | 4854 | 7883 | OMIM:130720 | Lateral meningocele syndrome | | | | 144 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | NPHP3 CL E G H | 27031 | 7907 | OMIM:267010 | MECKEL SYNDROME, TYPE 7; MKS7 | | | | 157 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | | | | 544 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:3447 | Weaver syndrome | | | | 544 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | | | | 34 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | | | | 2 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | NXN CL E G H | 64359 | 18008 | OMIM:618529 | Robinow syndrome, autosomal recessive 2 | | | | 2 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | OCLN CL E G H | 100506658 | 8104 | OMIM:251290 | Band-Like calcification with simplified gyration and polymicrogyria | | | | 23 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | OCRL CL E G H | 4952 | 8108 | OMIM:300555 | Dent disease 2 | | | | 88 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | | | | 88 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ODC1 CL E G H | 4953 | 8109 | ORPHA:544488 | Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome | | | | 1 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:300209 | Simpson-golabi-behmel syndrome, type 2 | | | | 201 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | P3H1 CL E G H | 64175 | 19316 | OMIM:610915 | Osteogenesis imperfecta, type VIII | | | | 43 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PACS1 CL E G H | 55690 | 30032 | ORPHA:329224 | Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome | | | | 24 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:217385 | 17p13.3 microduplication syndrome | | | | 231 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:531 | Miller-Dieker syndrome | | | | 231 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | | | | 1349 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PAX8 CL E G H | 7849 | 8622 | OMIM:218700 | Hypothyroidism, congenital, nongoitrous, 2 | | | | 63 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PAX8 CL E G H | 7849 | 8622 | ORPHA:95712 | Thyroid ectopia | | | | 63 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PHGDH CL E G H | 26227 | 8923 | ORPHA:79351 | 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form | | | | 37 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PI4KA CL E G H | 5297 | 8983 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | | | | 11 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PIEZO2 CL E G H | 63895 | 26270 | ORPHA:1154 | Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome | | | | 77 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:248700 | Marden-Walker syndrome | | | | 77 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | | | | 37 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PIGP CL E G H | 51227 | 3046 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 2 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PIGQ CL E G H | 9091 | 14135 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 3 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PIGQ CL E G H | 9091 | 14135 | OMIM:618548 | MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4 | | | | 3 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PIGY CL E G H | 84992 | 28213 | OMIM:616809 | Hyperphosphatasia with mental retardation syndrome 6 | | | | 2 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PIK3CD CL E G H | 5293 | 8977 | OMIM:613328 | Roifman-Chitayat syndrome | | | | 9 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:269880 | Short syndrome | | | | 43 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:3163 | SHORT syndrome | | | | 43 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PLAG1 CL E G H | 5324 | 9045 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | | | | 3 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:96191 | Paternal uniparental disomy of chromosome 6 | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:99886 | Transient neonatal diabetes mellitus | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PLD1 CL E G H | 5337 | 9067 | OMIM:212093 | Cardiac valvular defect, developmental | | | | 4 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PLOD1 CL E G H | 5351 | 9081 | OMIM:225400 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 | | | | 105 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PLOD1 CL E G H | 5351 | 9081 | ORPHA:1900 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | | | | 105 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PLOD2 CL E G H | 5352 | 9082 | OMIM:609220 | Bruck syndrome 2 | | | | 45 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PNKP CL E G H | 11284 | 9154 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 244 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | | | | 35 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | POLR2A CL E G H | 5430 | 9187 | OMIM:618603 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | POLR3GL CL E G H | 84265 | 28466 | OMIM:619234 | SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | | | | 20 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | | | | 20 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 36 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PPP1R12A CL E G H | 4659 | 7618 | OMIM:618820 | GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PPP2CA CL E G H | 5515 | 9299 | OMIM:618354 | Neurodevelopmental disorder and language delay with or without structural brain abnormalities | | | | 2 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PPP2R1A CL E G H | 5518 | 9302 | ORPHA:457284 | Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome | | | | 13 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PPP2R3C CL E G H | 55012 | 17485 | OMIM:618419 | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PRDM5 CL E G H | 11107 | 9349 | OMIM:614170 | Brittle cornea syndrome 2 | | | | 58 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PRKG1 CL E G H | 5592 | 9414 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 41 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PRKG2 CL E G H | 5593 | 9416 | OMIM:619636 | ACROMESOMELIC DYSPLASIA 4; AMD4 | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 54 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:610828 | Holoprosencephaly 7 | | | | 665 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:77301 | Monosomy 9q22.3 | | | | 665 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PTDSS1 CL E G H | 9791 | 9587 | ORPHA:2658 | Lenz-Majewski hyperostotic dwarfism | | | | 6 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PTDSS1 CL E G H | 9791 | 9587 | OMIM:151050 | Lenz-Majewski hyperostotic dwarfism | | | | 6 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | | | | 19 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PYCR1 CL E G H | 5831 | 9721 | OMIM:612940 | Cutis laxa, autosomal recessive, type IIB | | | | 53 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | PYCR1 CL E G H | 5831 | 9721 | OMIM:614438 | Cutis laxa, autosomal recessive, type IIIB | | | | 53 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | RAB23 CL E G H | 51715 | 14263 | ORPHA:65759 | Carpenter syndrome | | | | 31 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | | | | 135 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | RAC1 CL E G H | 5879 | 9801 | OMIM:617751 | Mental retardation, autosomal dominant 48 | | | | 3 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | RAC1 CL E G H | 5879 | 9801 | ORPHA:500159 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | | | | 3 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | | | | 9 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | | | | 391 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | RIC1 CL E G H | 57589 | 17686 | OMIM:618761 | CATIFA SYNDROME; CATIFA | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | RIN2 CL E G H | 54453 | 18750 | OMIM:613075 | Macs syndrome | | | | 43 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | RIN2 CL E G H | 54453 | 18750 | ORPHA:217335 | RIN2 syndrome | | | | 43 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | RIPPLY2 CL E G H | 134701 | 21390 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | | | | 3 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | RNF13 CL E G H | 11342 | 10057 | OMIM:618379 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73 | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | RNF13 CL E G H | 11342 | 10057 | ORPHA:544503 | RNF13-related severe early-onset epileptic encephalopathy | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | RNF2 CL E G H | 6045 | 10061 | OMIM:619460 | LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | | | | 120 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | | | | 120 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 167 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | RPL10 CL E G H | 6134 | 10298 | ORPHA:459070 | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome | | | | 10 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:303600 | Coffin-Lowry syndrome | | | | 65 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254534 | Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 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:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | | | | 124 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SATB2 CL E G H | 23314 | 21637 | OMIM:612313 | Glass syndrome | | | | 34 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 126 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 427 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SEC31A CL E G H | 22872 | 17052 | OMIM:618651 | HALPERIN-BIRK SYNDROME; HLBKS | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SEMA5A CL E G H | 9037 | 10736 | ORPHA:281 | Monosomy 5p | | | | 6 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SERPINH1 CL E G H | 871 | 1546 | OMIM:613848 | Osteogenesis imperfecta, type X | | | | 52 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SET CL E G H | 6418 | 10760 | OMIM:618106 | Mental retardation, autosomal dominant 58 | | | | 1 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | | | | 143 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | | | | 60 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SGSH CL E G H | 6448 | 10818 | OMIM:252900 | Mucopolysaccharidosis type IIIA | | | | 97 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SH3PXD2B CL E G H | 285590 | 29242 | ORPHA:137834 | Frank-Ter Haar syndrome | | | | 134 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SHANK3 CL E G H | 85358 | 14294 | ORPHA:48652 | Monosomy 22q13.3 | | | | 53 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SHOC2 CL E G H | 8036 | 15454 | OMIM:607721 | Noonan syndrome-like with loose anagen hair 1 | | | | 74 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SHPK CL E G H | 23729 | 1492 | ORPHA:440713 | Isolated sedoheptulokinase deficiency | | | | 2 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SIK1 CL E G H | 150094 | 11142 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 11 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SKI CL E G H | 6497 | 10896 | OMIM:182212 | Shprintzen-Goldberg craniosynostosis syndrome | | | | 150 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:2462 | Shprintzen-Goldberg syndrome | | | | 150 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SLC10A7 CL E G H | 84068 | 23088 | OMIM:618363 | Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SLC25A22 CL E G H | 79751 | 19954 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 166 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SLC25A24 CL E G H | 29957 | 20662 | ORPHA:2095 | Gorlin-Chaudhry-Moss syndrome | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SLC25A24 CL E G H | 29957 | 20662 | ORPHA:2963 | Progeroid syndrome, Petty type | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93298 | Achondrogenesis type 1B | | | | 166 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:600972 | Achondrogenesis, type IB | | | | 166 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SLC2A10 CL E G H | 81031 | 13444 | OMIM:208050 | Arterial tortuosity syndrome | | | | 178 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SLC2A10 CL E G H | 81031 | 13444 | ORPHA:3342 | Arterial tortuosity syndrome | | | | 178 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | | | | 71 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SLC35D1 CL E G H | 23169 | 20800 | OMIM:269250 | Schneckenbecken dysplasia | | | | 9 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:619525 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W | | | | 110 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SLC5A5 CL E G H | 6528 | 11040 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 59 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SLC5A5 CL E G H | 6528 | 11040 | OMIM:274400 | Thyroid hormonogenesis, genetic defect in, 1 | | | | 59 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SLC5A6 CL E G H | 8884 | 11041 | OMIM:619903 | | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SLC6A5 CL E G H | 9152 | 11051 | ORPHA:3197 | Hereditary hyperekplexia | | | | 81 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | | | | 274 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SMAD2 CL E G H | 4087 | 6768 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 7 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SMAD3 CL E G H | 4088 | 6769 | ORPHA:284984 | Aneurysm-osteoarthritis syndrome | | | | 260 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SMAD3 CL E G H | 4088 | 6769 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 260 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SMAD3 CL E G H | 4088 | 6769 | OMIM:613795 | LOEYS-DIETZ SYNDROME 3; LDS3 | | | | 260 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 504 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:2588 | Myhre syndrome | | | | 504 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SMARCB1 CL E G H | 6598 | 11103 | OMIM:614608 | Coffin-Siris syndrome 3 | | | | 87 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SMCHD1 CL E G H | 23347 | 29090 | OMIM:603457 | Bosma arhinia microphthalmia syndrome | | | | 174 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SMCHD1 CL E G H | 23347 | 29090 | ORPHA:2250 | Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome | | | | 174 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SNIP1 CL E G H | 79753 | 30587 | OMIM:614501 | Psychomotor retardation, epilepsy, and craniofacial dysmorphism | | | | 3 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SOX6 CL E G H | 55553 | 16421 | OMIM:618971 | TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS | | | | 1 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SPECC1L CL E G H | 23384 | 29022 | OMIM:145420 | Hypertelorism, Teebi type | | | | 6 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SPECC1L CL E G H | 23384 | 29022 | ORPHA:1519 | SPECC1L-related hypertelorism syndrome | | | | 6 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | STRA6 CL E G H | 64220 | 30650 | OMIM:601186 | Microphthalmia, syndromic 9 | | | | 71 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SUZ12 CL E G H | 23512 | 17101 | OMIM:618786 | IMAGAWA-MATSUMOTO SYNDROME; IMMAS | | | | 1 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | SUZ12 CL E G H | 23512 | 17101 | ORPHA:3447 | Weaver syndrome | | | | 1 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TASP1 CL E G H | 55617 | 15859 | OMIM:618950 | SULEIMAN-EL-HATTAB SYNDROME; SULEHS | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 32 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | | | | 32 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:192430 | Velocardiofacial syndrome | | | | 32 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | | | | 100 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TBX3 CL E G H | 6926 | 11602 | ORPHA:3138 | Ulnar-mammary syndrome | HP:0040283 - Occasional | | | 100 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TENT5A CL E G H | 55603 | 18345 | OMIM:617952 | Osteogenesis imperfecta, type XVIII | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TG CL E G H | 7038 | 11764 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 155 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TGDS CL E G H | 23483 | 20324 | OMIM:616145 | Catel-Manzke syndrome | | | | 6 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TGFB2 CL E G H | 7042 | 11768 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 162 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TGFB2 CL E G H | 7042 | 11768 | OMIM:614816 | LOEYS-DIETZ SYNDROME 4; LDS4 | | | | 162 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TGFB3 CL E G H | 7043 | 11769 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 85 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TGFB3 CL E G H | 7043 | 11769 | OMIM:615582 | LOEYS-DIETZ SYNDROME 5; LDS5 | | | | 85 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TGFBR1 CL E G H | 7046 | 11772 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 239 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | | | | 253 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TGFBR2 CL E G H | 7048 | 11773 | OMIM:610168 | Loeys-Dietz syndrome 2 | | | | 253 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | THRA CL E G H | 7067 | 11796 | OMIM:614450 | Hypothyroidism, congenital, nongoitrous, 6 | | | | 9 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TMEM107 CL E G H | 84314 | 28128 | OMIM:617563 | Orofaciodigital syndrome XVI | | | | 4 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TMEM216 CL E G H | 51259 | 25018 | OMIM:603194 | Meckel syndrome, type 2 | | | | 45 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 166 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TMEM70 CL E G H | 54968 | 26050 | OMIM:614052 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 2 | | | | 63 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TMEM94 CL E G H | 9772 | 28983 | OMIM:618316 | Intellectual developmental disorder with cardiac defects and dysmorphic facies | | | | 1 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TNRC6B CL E G H | 23112 | 29190 | OMIM:619243 | GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TOR1A CL E G H | 1861 | 3098 | OMIM:618947 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5 | | | | 47 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:93930 | Bladder exstrophy | | | | 140 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:199302 | Isolated cleft lip | | | | 140 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TPO CL E G H | 7173 | 12015 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 92 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TRAF7 CL E G H | 84231 | 20456 | OMIM:618164 | Cardiac, facial, and digital anomalies with developmental delay | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TRIM8 CL E G H | 81603 | 15579 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 1 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TRIP11 CL E G H | 9321 | 12305 | ORPHA:93299 | Achondrogenesis type 1A | | | | 133 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | | | | 2 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TSHB CL E G H | 7252 | 12372 | OMIM:275100 | Hypothyroidism, congenital, nongoitrous, 4 | | | | 9 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | | | | 9 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TSHR CL E G H | 7253 | 12373 | ORPHA:90673 | Hypothyroidism due to TSH receptor mutations | | | | 97 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TTC7A CL E G H | 57217 | 19750 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | | | | 26 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TTC7A CL E G H | 57217 | 19750 | OMIM:243150 | Gastrointestinal defects and immunodeficiency syndrome | | | | 26 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TUBB CL E G H | 203068 | 20778 | ORPHA:2505 | Multiple benign circumferential skin creases on limbs | | | | 14 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:920 | Ablepharon macrostomia syndrome | | | | 7 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TWIST2 CL E G H | 117581 | 20670 | OMIM:200110 | Ablepharon-Macrostomia syndrome | | | | 7 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | TXNL4A CL E G H | 10907 | 30551 | OMIM:608572 | Burn-Mckeown syndrome | | | | 19 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | UBA1 CL E G H | 7317 | 12469 | OMIM:301830 | Spinal muscular atrophy, X-linked 2 | | | | 35 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | | | | 2 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | VANGL2 CL E G H | 57216 | 15511 | ORPHA:563609 | Isolated anencephaly | | | | 2 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | | | | 83 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614376 | Short-Rib thoracic dysplasia 5 with or without polydactyly | | | | 95 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | | | | 136 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 136 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | 98 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 98 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | | | | 125 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | | | | 9 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | YWHAE CL E G H | 7531 | 12851 | ORPHA:217385 | 17p13.3 microduplication syndrome | | | | 14 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | YWHAE CL E G H | 7531 | 12851 | ORPHA:531 | Miller-Dieker syndrome | | | | 14 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ZBTB24 CL E G H | 9841 | 21143 | ORPHA:2268 | ICF syndrome | | | | 9 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ZBTB7A CL E G H | 51341 | 18078 | OMIM:619769 | MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH | | | | | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ZEB1 CL E G H | 6935 | 11642 | OMIM:609141 | Corneal dystrophy, posterior polymorphous, 3 | | | | 8 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ZFP57 CL E G H | 346171 | 18791 | ORPHA:99886 | Transient neonatal diabetes mellitus | | | | 30 | | |
HP:0004299 | HP:0004299 | Hernia of the abdominal wall | 0 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | | | | 39 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040282 - Frequent | | | 245 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | ABCC9 CL E G H | 10060 | 60 | OMIM:239850 | Hypertrichotic osteochondrodysplasia | . | | | 254 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | ABCC9 CL E G H | 10060 | 60 | ORPHA:1517 | Hypertrichotic osteochondrodysplasia, Cantu type | HP:0040282 - Frequent | | | 254 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | ABCD4 CL E G H | 5826 | 68 | OMIM:614857 | Methylmalonic aciduria and homocystinuria, Cblj type | . | | | 53 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | ACTA2 CL E G H | 59 | 130 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 94 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | ACTG2 CL E G H | 72 | 145 | ORPHA:2604 | Familial visceral myopathy | HP:0040283 - Occasional | | | 23 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | ACTG2 CL E G H | 72 | 145 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | HP:0040283 - Occasional | | | 23 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | ACTG2 CL E G H | 72 | 145 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | HP:0040283 - Occasional | | | 23 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | ADAMTS2 CL E G H | 9509 | 218 | ORPHA:1901 | Dermatosparaxis Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 165 | | |
HP:0004299 | HP:0100541 | Femoral hernia | 1 | ADAMTS2 CL E G H | 9509 | 218 | ORPHA:1901 | Dermatosparaxis Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 165 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | ADAMTS2 CL E G H | 9509 | 218 | OMIM:225410 | Ehlers-Danlos syndrome, type VII, autosomal recessive | . | | | 165 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | ADAMTS2 CL E G H | 9509 | 218 | OMIM:225410 | Ehlers-Danlos syndrome, type VII, autosomal recessive | . | | | 165 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | ADAMTSL2 CL E G H | 9719 | 14631 | ORPHA:1901 | Dermatosparaxis Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 72 | | |
HP:0004299 | HP:0100541 | Femoral hernia | 1 | ADAMTSL2 CL E G H | 9719 | 14631 | ORPHA:1901 | Dermatosparaxis Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 72 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | HP:0040284 - Very rare | | | 47 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | HP:0040284 - Very rare | | | 47 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | AEBP1 CL E G H | 165 | 303 | ORPHA:536532 | Classical-like Ehlers-Danlos syndrome type 2 | HP:0040283 - Occasional | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | AEBP1 CL E G H | 165 | 303 | ORPHA:536532 | Classical-like Ehlers-Danlos syndrome type 2 | HP:0040282 - Frequent | | | | | |
HP:0004299 | HP:0002933 | Ventral hernia | 1 | AEBP1 CL E G H | 165 | 303 | ORPHA:536532 | Classical-like Ehlers-Danlos syndrome type 2 | HP:0040282 - Frequent | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | AEBP1 CL E G H | 165 | 303 | OMIM:618000 | Ehlers-Danlos syndrome, classic-like, 2 | . | | | | | |
HP:0004299 | HP:0002933 | Ventral hernia | 1 | AEBP1 CL E G H | 165 | 303 | OMIM:618000 | Ehlers-Danlos syndrome, classic-like, 2 | . | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | AEBP1 CL E G H | 165 | 303 | OMIM:618000 | Ehlers-Danlos syndrome, classic-like, 2 | . | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | AGA CL E G H | 175 | 318 | ORPHA:93 | Aspartylglucosaminuria | HP:0040283 - Occasional | | | 76 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | AGA CL E G H | 175 | 318 | ORPHA:93 | Aspartylglucosaminuria | HP:0040281 - Very frequent | | | 76 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | AGPAT2 CL E G H | 10555 | 325 | OMIM:608594 | Lipodystrophy, congenital generalized, type 1 | . | | | 85 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:90348 | Autosomal dominant cutis laxa | HP:0040283 - Occasional | | | 89 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:219150 | Cutis laxa, autosomal recessive, type IIIA | . | | | 89 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:219150 | Cutis laxa, autosomal recessive, type IIIA | . | | | 89 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | HP:0040283 - Occasional | | | 93 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | ALG9 CL E G H | 79796 | 15672 | OMIM:263210 | Gillessen-Kaesbach-Nishimura syndrome | | | | 93 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | HP:0040284 - Very rare | | | 34 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | AMH CL E G H | 268 | 464 | ORPHA:2856 | Persistent Müllerian duct syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | AMH CL E G H | 268 | 464 | OMIM:261550 | Persistent mullerian duct syndrome, types I and II | | | | 9 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | AMHR2 CL E G H | 269 | 465 | ORPHA:2856 | Persistent Müllerian duct syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | AMHR2 CL E G H | 269 | 465 | OMIM:261550 | Persistent mullerian duct syndrome, types I and II | | | | 8 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | ANTXR1 CL E G H | 84168 | 21014 | OMIM:230740 | Gapo syndrome | . | | | 8 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | ANTXR1 CL E G H | 84168 | 21014 | ORPHA:2067 | GAPO syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | AP1S2 CL E G H | 8905 | 560 | ORPHA:1568 | X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | AR CL E G H | 367 | 644 | OMIM:300068 | Androgen insensitivity syndrome | . | | | 125 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | AR CL E G H | 367 | 644 | ORPHA:95706 | Non-syndromic posterior hypospadias | HP:0040283 - Occasional | | | 125 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | ARID1A CL E G H | 8289 | 11110 | OMIM:614607 | Coffin-Siris syndrome 2 | | | | 88 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | . | | | 219 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | . | | | 219 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | ARPC4 CL E G H | 10093 | 707 | OMIM:620141 | | | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | ARSB CL E G H | 411 | 714 | OMIM:253200 | Mucopolysaccharidosis, type VI | . | | | 120 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | ARSB CL E G H | 411 | 714 | OMIM:253200 | Mucopolysaccharidosis, type VI | . | | | 120 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | ARX CL E G H | 170302 | 18060 | ORPHA:2508 | Corpus callosum agenesis-abnormal genitalia syndrome | HP:0040283 - Occasional | | | 166 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | ARX CL E G H | 170302 | 18060 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 166 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | ATAD1 CL E G H | 84896 | 25903 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040282 - Frequent | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | ATAD1 CL E G H | 84896 | 25903 | OMIM:618011 | Hyperekplexia 4 | . | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | ATAD1 CL E G H | 84896 | 25903 | OMIM:618011 | Hyperekplexia 4 | . | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | ATP1A2 CL E G H | 477 | 800 | OMIM:619602 | FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD | | | | 239 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040282 - Frequent | | | 140 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:219200 | Cutis laxa, autosomal recessive, type IIA | . | | | 140 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:278250 | Wrinkly skin syndrome | . | | | 140 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:2834 | Wrinkly skin syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:278250 | Wrinkly skin syndrome | . | | | 140 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:2834 | Wrinkly skin syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | ATP6V1A CL E G H | 523 | 851 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040282 - Frequent | | | 3 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | ATP6V1A CL E G H | 523 | 851 | OMIM:617403 | Cutis laxa, autosomal recessive, type IID | . | | | 3 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | ATP6V1E1 CL E G H | 529 | 857 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040282 - Frequent | | | 2 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | ATP7A CL E G H | 538 | 869 | ORPHA:565 | Menkes disease | HP:0040281 - Very frequent | | | 192 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | ATP7A CL E G H | 538 | 869 | ORPHA:565 | Menkes disease | HP:0040281 - Very frequent | | | 192 | | |
HP:0004299 | HP:0100541 | Femoral hernia | 1 | ATP7A CL E G H | 538 | 869 | ORPHA:198 | Occipital horn syndrome | HP:0040283 - Occasional | | | 192 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | ATP7A CL E G H | 538 | 869 | ORPHA:198 | Occipital horn syndrome | HP:0040283 - Occasional | | | 192 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | . | | | 169 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | AUTS2 CL E G H | 26053 | 14262 | ORPHA:352490 | Autism spectrum disorder due to AUTS2 deficiency | HP:0040283 - Occasional | | | 61 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | AUTS2 CL E G H | 26053 | 14262 | ORPHA:352490 | Autism spectrum disorder due to AUTS2 deficiency | HP:0040283 - Occasional | | | 61 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | AUTS2 CL E G H | 26053 | 14262 | OMIM:615834 | Mental retardation, autosomal dominant 26 | | | | 61 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | AUTS2 CL E G H | 26053 | 14262 | OMIM:615834 | Mental retardation, autosomal dominant 26 | | | | 61 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | HP:0040283 - Occasional | | | 5 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | . | | | 36 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | BCL11B CL E G H | 64919 | 13222 | OMIM:617237 | Immunodeficiency 49 | . | | | 3 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | HP:0040283 - Occasional | | | 101 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | BCR CL E G H | 613 | 1014 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | BHLHA9 CL E G H | 727857 | 35126 | ORPHA:3329 | Tibial aplasia-ectrodactyly syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | BMP1 CL E G H | 649 | 1067 | OMIM:614856 | Osteogenesis imperfecta, type XIII | HP:0040283 - Occasional | | | 49 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | BMPER CL E G H | 168667 | 24154 | OMIM:608022 | DIAPHANOSPONDYLODYSOSTOSIS | . | | | 78 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | BRAT1 CL E G H | 221927 | 21701 | OMIM:614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | . | | | 20 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 5769 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 7642 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1086 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | BSCL2 CL E G H | 26580 | 15832 | OMIM:269700 | Lipodystrophy, congenital generalized, type 2 | . | | | 105 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | C1R CL E G H | 715 | 1246 | OMIM:130080 | Ehlers-Danlos syndrome, periodontal type, 1 | | | | 15 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | C1R CL E G H | 715 | 1246 | OMIM:130080 | Ehlers-Danlos syndrome, periodontal type, 1 | . | | | 15 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | C1S CL E G H | 716 | 1247 | OMIM:617174 | Ehlers-Danlos syndrome, periodontal type, 2 | . | | | 7 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | C1S CL E G H | 716 | 1247 | OMIM:617174 | Ehlers-Danlos syndrome, periodontal type, 2 | . | | | 7 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | CASK CL E G H | 8573 | 1497 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 118 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | CBS CL E G H | 875 | 1550 | OMIM:236200 | Homocystinuria due to cystathionine beta-synthase deficiency | . | | | 242 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 247 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | . | | | 147 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | CD96 CL E G H | 10225 | 16892 | ORPHA:1308 | C syndrome | HP:0040283 - Occasional | | | 83 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | CD96 CL E G H | 10225 | 16892 | OMIM:211750 | C syndrome | . | | | 83 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | CDC42 CL E G H | 998 | 1736 | ORPHA:487796 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | CDC42 CL E G H | 998 | 1736 | OMIM:616737 | Takenouchi-Kosaki syndrome | | | | 6 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | CDCA7 CL E G H | 83879 | 14628 | ORPHA:2268 | ICF syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | HP:0040284 - Very rare | | | 2 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 405 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | CDKN1C CL E G H | 1028 | 1786 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 114 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | CDKN1C CL E G H | 1028 | 1786 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040283 - Occasional | | | 114 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | CEP120 CL E G H | 153241 | 26690 | OMIM:616300 | Short-Rib thoracic dysplasia 13 with or without polydactyly | . | | | 7 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | CHAMP1 CL E G H | 283489 | 20311 | OMIM:616579 | Mental retardation, autosomal dominant 40 | | | | 16 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | . | | | 515 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | . | | | 515 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | CHRNG CL E G H | 1146 | 1967 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | HP:0040282 - Frequent | | | 68 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | CHRNG CL E G H | 1146 | 1967 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | . | | | 68 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | . | | | 68 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | CHST14 CL E G H | 113189 | 24464 | OMIM:601776 | Ehlers-Danlos syndrome, musculocontractural type 1 | . | | | 27 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | CHST14 CL E G H | 113189 | 24464 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040284 - Very rare | | | 27 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | HP:0040283 - Occasional | | | 165 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | CHUK CL E G H | 1147 | 1974 | OMIM:613630 | Fetal encasement syndrome | | | | 3 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | CLCN4 CL E G H | 1183 | 2022 | ORPHA:485350 | CLCN4-related X-linked intellectual disability syndrome | HP:0040284 - Very rare | | | 45 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | CLDN19 CL E G H | 149461 | 2040 | ORPHA:2196 | Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement | HP:0040282 - Frequent | | | 42 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | 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:0004299 | HP:0001537 | Umbilical hernia | 1 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:2021 | Fibrochondrogenesis | HP:0040283 - Occasional | | | 215 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | COL11A1 CL E G H | 1301 | 2186 | OMIM:228520 | Fibrochondrogenesis 1 | . | | | 215 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:2021 | Fibrochondrogenesis | HP:0040283 - Occasional | | | 222 | | |
HP:0004299 | HP:0100541 | Femoral hernia | 1 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:1899 | Arthrochalasia Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 373 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:1899 | Arthrochalasia Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 373 | | |
HP:0004299 | HP:0004872 | Incisional hernia | 1 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 373 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 373 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 373 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | COL1A1 CL E G H | 1277 | 2197 | OMIM:619115 | COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1 | | | | 373 | | |
HP:0004299 | HP:0100541 | Femoral hernia | 1 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:1899 | Arthrochalasia Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 243 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:1899 | Arthrochalasia Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 243 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:230851 | Cardiac-valvular Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 243 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | COL1A2 CL E G H | 1278 | 2198 | OMIM:225320 | Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form | . | | | 243 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:156550 | Kniest dysplasia | . | | | 284 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:156550 | Kniest dysplasia | . | | | 284 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:184250 | Spondyloepimetaphyseal dysplasia, Strudwick type | . | | | 284 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | | | | 749 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 749 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 749 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 660 | | |
HP:0004299 | HP:0004872 | Incisional hernia | 1 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 660 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 660 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | COL5A1 CL E G H | 1289 | 2209 | OMIM:130000 | Ehlers-danlos syndrome, type I | | | | 660 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | COL5A1 CL E G H | 1289 | 2209 | OMIM:130000 | Ehlers-danlos syndrome, type I | . | | | 660 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 325 | | |
HP:0004299 | HP:0004872 | Incisional hernia | 1 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 325 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 325 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | COLEC10 CL E G H | 10584 | 2220 | ORPHA:293843 | 3MC syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | COLEC11 CL E G H | 78989 | 17213 | ORPHA:293843 | 3MC syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | CREBBP CL E G H | 1387 | 2348 | OMIM:618332 | MENKE-HENNEKAM SYNDROME 1; MKHK1 | | | | 291 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | CREBBP CL E G H | 1387 | 2348 | OMIM:618332 | MENKE-HENNEKAM SYNDROME 1; MKHK1 | | | | 291 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | CRKL CL E G H | 1399 | 2363 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | CTCF CL E G H | 10664 | 13723 | ORPHA:363611 | CTCF-related neurodevelopmental disorder | HP:0040283 - Occasional | | | 20 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | CTNND2 CL E G H | 1501 | 2516 | ORPHA:281 | Monosomy 5p | HP:0040283 - Occasional | | | 15 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | CUL4B CL E G H | 8450 | 2555 | ORPHA:85293 | X-linked intellectual disability, Cabezas type | HP:0040281 - Very frequent | | | 38 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | CWC27 CL E G H | 10283 | 10664 | ORPHA:166035 | Brachydactyly-short stature-retinitis pigmentosa syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | DACT1 CL E G H | 51339 | 17748 | ORPHA:63260 | Craniorachischisis | HP:0040283 - Occasional | | | 2 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | DDX6 CL E G H | 1656 | 2747 | OMIM:618653 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF | | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | DGCR2 CL E G H | 9993 | 2845 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | DGCR2 CL E G H | 9993 | 2845 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | DGCR6 CL E G H | 8214 | 2846 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | DGCR6 CL E G H | 8214 | 2846 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | DGCR8 CL E G H | 54487 | 2847 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | DGCR8 CL E G H | 54487 | 2847 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | DIS3L2 CL E G H | 129563 | 28648 | ORPHA:2849 | Perlman syndrome | HP:0040283 - Occasional | | | 164 | | |
HP:0004299 | HP:0100541 | Femoral hernia | 1 | DIS3L2 CL E G H | 129563 | 28648 | ORPHA:2849 | Perlman syndrome | HP:0040283 - Occasional | | | 164 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254534 | Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation | HP:0040283 - Occasional | | | 1 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254534 | Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation | HP:0040283 - Occasional | | | 1 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040282 - Frequent | | | 1 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040282 - Frequent | | | 1 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | 1 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | 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:0004299 | HP:0001537 | Umbilical hernia | 1 | DLL3 CL E G H | 10683 | 2909 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 45 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | DLL3 CL E G H | 10683 | 2909 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 45 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 3 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:404443 | Tatton-Brown-Rahman syndrome | HP:0040284 - Very rare | | | 44 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | DNMT3A CL E G H | 1788 | 2978 | OMIM:615879 | Tatton-Brown-Rahman syndrome | HP:0040283 - Occasional | | | 44 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | DNMT3B CL E G H | 1789 | 2979 | ORPHA:2268 | ICF syndrome | HP:0040283 - Occasional | | | 79 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | DPH1 CL E G H | 1801 | 3003 | ORPHA:459061 | Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | DSE CL E G H | 29940 | 21144 | OMIM:615539 | Ehlers-Danlos syndrome, musculocontractural type, 2 | . | | | 13 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | DSE CL E G H | 29940 | 21144 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040284 - Very rare | | | 13 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040282 - Frequent | | | 121 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:226316 | Genetic transient congenital hypothyroidism | HP:0040283 - Occasional | | | 121 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | DUOXA2 CL E G H | 405753 | 32698 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040282 - Frequent | | | 11 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0004299 | HP:0100541 | Femoral hernia | 1 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | . | | | 14 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | . | | | 14 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | DVL1 CL E G H | 1855 | 3084 | OMIM:616331 | Robinow syndrome, autosomal dominant 2 | HP:0040283 - Occasional | | | 14 | | |
HP:0004299 | HP:0100541 | Femoral hernia | 1 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | DVL3 CL E G H | 1857 | 3087 | OMIM:616894 | ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3 | | | | 5 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040283 - Occasional | | | 304 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040283 - Occasional | | | | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040283 - Occasional | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | HP:0040283 - Occasional | | | 134 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | EED CL E G H | 8726 | 3188 | OMIM:617561 | Cohen-Gibson syndrome | | | | 4 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | EED CL E G H | 8726 | 3188 | ORPHA:3447 | Weaver syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | EFEMP2 CL E G H | 30008 | 3219 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | HP:0040282 - Frequent | | | 45 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | EFEMP2 CL E G H | 30008 | 3219 | OMIM:614437 | Cutis laxa, autosomal recessive, type IB | . | | | 45 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | EFNB1 CL E G H | 1947 | 3226 | OMIM:304110 | Craniofrontonasal syndrome | . | | | 27 | | |
HP:0004299 | HP:0100541 | Femoral hernia | 1 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:96147 | Kleefstra syndrome due to 9q34 microdeletion | HP:0040283 - Occasional | | | 223 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:96147 | Kleefstra syndrome due to 9q34 microdeletion | HP:0040283 - Occasional | | | 223 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | HP:0040283 - Occasional | | | 223 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | HP:0040284 - Very rare | | | 223 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | ELMO2 CL E G H | 63916 | 17233 | OMIM:606893 | Vascular malformation, primary intraosseous | . | | | 3 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:90348 | Autosomal dominant cutis laxa | HP:0040283 - Occasional | | | 172 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | ELN CL E G H | 2006 | 3327 | OMIM:123700 | Cutis laxa, autosomal dominant 1 | . | | | 172 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 172 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 172 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 172 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | ELOVL4 CL E G H | 6785 | 14415 | OMIM:614457 | Ichthyosis, spastic quadriplegia, and mental retardation | . | | | 62 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | EN1 CL E G H | 2019 | 3342 | OMIM:619218 | ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB | | | | 1 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | EOGT CL E G H | 285203 | 28526 | OMIM:615297 | Adams-Oliver syndrome 4 | HP:0040283 - Occasional | | | 4 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 158 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | ESS2 CL E G H | 8220 | 16817 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | ESS2 CL E G H | 8220 | 16817 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | . | | | 81 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | . | | | 81 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | EZH2 CL E G H | 2146 | 3527 | ORPHA:3447 | Weaver syndrome | HP:0040282 - Frequent | | | 81 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 340 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 58 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | FANCB CL E G H | 2187 | 3583 | ORPHA:3412 | VACTERL with hydrocephalus | HP:0040283 - Occasional | | | 58 | | |
HP:0004299 | HP:0100541 | Femoral hernia | 1 | FANCB CL E G H | 2187 | 3583 | ORPHA:3412 | VACTERL with hydrocephalus | HP:0040283 - Occasional | | | 58 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 410 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 147 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 73 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 87 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 73 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 157 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 53 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 107 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | FARSB CL E G H | 10056 | 17800 | OMIM:613658 | Rajab interstitial lung disease with brain calcifications | | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | FBLN5 CL E G H | 10516 | 3602 | ORPHA:90348 | Autosomal dominant cutis laxa | HP:0040283 - Occasional | | | 63 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | FBLN5 CL E G H | 10516 | 3602 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | HP:0040282 - Frequent | | | 63 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | FBLN5 CL E G H | 10516 | 3602 | OMIM:219100 | Cutis laxa, autosomal recessive, type IA | . | | | 63 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | FBLN5 CL E G H | 10516 | 3602 | OMIM:219100 | Cutis laxa, autosomal recessive, type IA | . | | | 63 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | FBN1 CL E G H | 2200 | 3603 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 1361 | | |
HP:0004299 | HP:0004872 | Incisional hernia | 1 | FBN1 CL E G H | 2200 | 3603 | OMIM:154700 | Marfan syndrome | . | | | 1361 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | FBN1 CL E G H | 2200 | 3603 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040282 - Frequent | | | 1361 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | FBN1 CL E G H | 2200 | 3603 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040282 - Frequent | | | 1361 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | FBN1 CL E G H | 2200 | 3603 | OMIM:608328 | Weill-Marchesani syndrome 2, dominant | | | | 1361 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | FBXW11 CL E G H | 23291 | 13607 | OMIM:618914 | NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED | | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | FBXW11 CL E G H | 23291 | 13607 | OMIM:618914 | NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED | | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | FGD1 CL E G H | 2245 | 3663 | OMIM:305400 | Aarskog-Scott syndrome | | | | 62 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | FGD1 CL E G H | 2245 | 3663 | ORPHA:915 | Aarskog-Scott syndrome | HP:0040281 - Very frequent | | | 62 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | FGD1 CL E G H | 2245 | 3663 | ORPHA:915 | Aarskog-Scott syndrome | HP:0040282 - Frequent | | | 62 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:3366 | Isolated trigonocephaly | HP:0040283 - Occasional | | | 172 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | FGFR1 CL E G H | 2260 | 3688 | OMIM:166250 | Osteoglophonic dysplasia | . | | | 172 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2645 | Osteoglosphonic dysplasia | HP:0040283 - Occasional | | | 172 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | FGFR1 CL E G H | 2260 | 3688 | OMIM:190440 | Trigonocephaly 1 | . | | | 172 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1555 | Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | FIBP CL E G H | 9158 | 3705 | ORPHA:500095 | Tall stature-intellectual disability-renal anomalies syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | FKBP14 CL E G H | 55033 | 18625 | OMIM:614557 | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | HP:0040283 - Occasional | | | 13 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | FKBP14 CL E G H | 55033 | 18625 | OMIM:614557 | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | HP:0040283 - Occasional | | | 13 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | FLNA CL E G H | 2316 | 3754 | ORPHA:2484 | Melnick-Needles syndrome | HP:0040283 - Occasional | | | 493 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:309350 | Melnick-Needles syndrome | . | | | 493 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | FLNA CL E G H | 2316 | 3754 | ORPHA:90652 | Otopalatodigital syndrome type 2 | HP:0040282 - Frequent | | | 493 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:311300 | Otopalatodigital syndrome, type I | . | | | 493 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:304120 | Otopalatodigital syndrome, type II | . | | | 493 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | FLNA CL E G H | 2316 | 3754 | ORPHA:75497 | X-linked Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 493 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | FLNA CL E G H | 2316 | 3754 | ORPHA:75497 | X-linked Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 493 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | FLNB CL E G H | 2317 | 3755 | ORPHA:1263 | Boomerang dysplasia | HP:0040282 - Frequent | | | 233 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | FLNB CL E G H | 2317 | 3755 | OMIM:272460 | Spondylocarpotarsal synostosis syndrome | . | | | 233 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | FOXE3 CL E G H | 2301 | 3808 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 23 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | FOXF1 CL E G H | 2294 | 3809 | OMIM:265380 | Alveolar capillary dysplasia with misalignment of pulmonary veins | | | | 61 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | FRAS1 CL E G H | 80144 | 19185 | ORPHA:2052 | Fraser syndrome | HP:0040283 - Occasional | | | 353 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | FRAS1 CL E G H | 80144 | 19185 | ORPHA:2052 | Fraser syndrome | HP:0040283 - Occasional | | | 353 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | FREM1 CL E G H | 158326 | 23399 | ORPHA:3366 | Isolated trigonocephaly | HP:0040283 - Occasional | | | 198 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | FREM1 CL E G H | 158326 | 23399 | OMIM:248450 | Manitoba oculotrichoanal syndrome | . | | | 198 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | FREM2 CL E G H | 341640 | 25396 | ORPHA:2052 | Fraser syndrome | HP:0040283 - Occasional | | | 263 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | FREM2 CL E G H | 341640 | 25396 | ORPHA:2052 | Fraser syndrome | HP:0040283 - Occasional | | | 263 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | FTO CL E G H | 79068 | 24678 | OMIM:612938 | Growth retardation, developmental delay, coarse facies, and earlydeath | . | | | 70 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | | | |
HP:0004299 | HP:0100541 | Femoral hernia | 1 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | | | | 37 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | GAD1 CL E G H | 2571 | 4092 | OMIM:619124 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89 | | | | 44 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | GALNS CL E G H | 2588 | 4122 | OMIM:253000 | Morquio syndrome A | . | | | 123 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | GATA6 CL E G H | 2627 | 4174 | OMIM:600001 | Pancreatic agenesis and congenital heart defects | | | | 37 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | GATA6 CL E G H | 2627 | 4174 | OMIM:600001 | Pancreatic agenesis and congenital heart defects | HP:0040283 - Occasional | | | 37 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | GATA6 CL E G H | 2627 | 4174 | ORPHA:2255 | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | HP:0040284 - Very rare | | | 37 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | GDF1 CL E G H | 2657 | 4214 | OMIM:208530 | Right atrial isomerism (Ivemark) | | | | 28 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | GDF11 CL E G H | 10220 | 4216 | OMIM:619122 | VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO | | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | HP:0040283 - Occasional | | | 68 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | GLB1 CL E G H | 2720 | 4298 | OMIM:230500 | GM1-gangliosidosis, type I | . | | | 120 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | GLB1 CL E G H | 2720 | 4298 | OMIM:253010 | Mucopolysaccharidosis type IVB (Morquio) | . | | | 120 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:36 | Acrocallosal syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | GLI3 CL E G H | 2737 | 4319 | OMIM:175700 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:380 | Greig cephalopolysyndactyly syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | GLI3 CL E G H | 2737 | 4319 | OMIM:175700 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | GLIS3 CL E G H | 169792 | 28510 | OMIM:610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | HP:0040283 - Occasional | | | 143 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | GLRA1 CL E G H | 2741 | 4326 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040282 - Frequent | | | 63 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | GLRA1 CL E G H | 2741 | 4326 | OMIM:149400 | Hyperekplexia 1 | . | | | 63 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | GLRA1 CL E G H | 2741 | 4326 | OMIM:149400 | Hyperekplexia 1 | . | | | 63 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | GLRB CL E G H | 2743 | 4329 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040282 - Frequent | | | 46 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | GMNN CL E G H | 51053 | 17493 | OMIM:616835 | Meier-Gorlin syndrome 6 | | | | 3 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | GNAO1 CL E G H | 2775 | 4389 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 36 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | GNE CL E G H | 10020 | 23657 | OMIM:269921 | SIALURIA | . | | | 173 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | HP:0040281 - Very frequent | | | 240 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | HP:0040283 - Occasional | | | 240 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040282 - Frequent | | | 73 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040282 - Frequent | | | 73 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040282 - Frequent | | | 73 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040282 - Frequent | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040282 - Frequent | | | | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040282 - Frequent | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | GPC6 CL E G H | 10082 | 4454 | OMIM:258315 | Omodysplasia 1 | . | | | 99 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | GPHN CL E G H | 10243 | 15465 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040282 - Frequent | | | 18 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | GPHN CL E G H | 10243 | 15465 | OMIM:149400 | Hyperekplexia 1 | . | | | 18 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | GPHN CL E G H | 10243 | 15465 | OMIM:149400 | Hyperekplexia 1 | . | | | 18 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 108 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | GRIN2B CL E G H | 2904 | 4586 | OMIM:613970 | Mental retardation, autosomal dominant 6, with or without seizures | | | | 274 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | GRIP1 CL E G H | 23426 | 18708 | ORPHA:2052 | Fraser syndrome | HP:0040283 - Occasional | | | 80 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | GRIP1 CL E G H | 23426 | 18708 | ORPHA:2052 | Fraser syndrome | HP:0040283 - Occasional | | | 80 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | GRM7 CL E G H | 2917 | 4599 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 5 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | GUSB CL E G H | 2990 | 4696 | ORPHA:584 | Mucopolysaccharidosis type 7 | HP:0040281 - Very frequent | | | 54 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | GUSB CL E G H | 2990 | 4696 | ORPHA:584 | Mucopolysaccharidosis type 7 | HP:0040281 - Very frequent | | | 54 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | GUSB CL E G H | 2990 | 4696 | OMIM:253220 | Mucopolysaccharidosis, type VII | . | | | 54 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | H19 CL E G H | 283120 | 4713 | ORPHA:2128 | Isolated hemihyperplasia | HP:0040283 - Occasional | | | 4 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | H19 CL E G H | 283120 | 4713 | ORPHA:231144 | Silver-Russell syndrome due to 11p15 microduplication | HP:0040283 - Occasional | | | 4 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | H19-ICR CL E G H | 105259599 | | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | H4C3 CL E G H | 8364 | 4787 | OMIM:619758 | TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1 | | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | HDAC4 CL E G H | 9759 | 14063 | ORPHA:1001 | 2q37 microdeletion syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | HELLS CL E G H | 3070 | 4861 | ORPHA:2268 | ICF syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | HES7 CL E G H | 84667 | 15977 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 10 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | HES7 CL E G H | 84667 | 15977 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 10 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | 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:0004299 | HP:0000023 | Inguinal hernia | 1 | HEY2 CL E G H | 23493 | 4881 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | HIC1 CL E G H | 3090 | 4909 | ORPHA:531 | Miller-Dieker syndrome | HP:0040283 - Occasional | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | HIVEP2 CL E G H | 3097 | 4921 | OMIM:616977 | Mental retardation, autosomal dominant 43 | | | | 13 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | HMGA2 CL E G H | 8091 | 5009 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040283 - Occasional | | | 2 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:887 | VACTERL/VATER association | HP:0040283 - Occasional | | | 25 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | HP:0040283 - Occasional | | | 345 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | HP:0040283 - Occasional | | | 345 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | . | | | 345 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | . | | | 345 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | HYLS1 CL E G H | 219844 | 26558 | OMIM:236680 | Hydrolethalus syndrome 1 | . | | | 31 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | HYMAI CL E G H | 57061 | 5326 | ORPHA:96191 | Paternal uniparental disomy of chromosome 6 | HP:0040281 - Very frequent | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | HYMAI CL E G H | 57061 | 5326 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040282 - Frequent | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | HP:0040282 - Frequent | | | 86 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | HP:0040282 - Frequent | | | 86 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | HP:0040282 - Frequent | | | 86 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | HP:0040282 - Frequent | | | 86 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | . | | | 86 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | . | | | 86 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | . | | | 115 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | . | | | 115 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | IDUA CL E G H | 3425 | 5391 | OMIM:607015 | Hurler-Scheie syndrome | . | | | 115 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | IDUA CL E G H | 3425 | 5391 | OMIM:607015 | Hurler-Scheie syndrome | | | | 115 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | | | | 93 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | IFT80 CL E G H | 57560 | 29262 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040283 - Occasional | | | 65 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | IFT81 CL E G H | 28981 | 14313 | OMIM:617895 | Short-Rib thoracic dysplasia 19 with or without polydactyly | . | | | 2 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | IGF2 CL E G H | 3481 | 5466 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 9 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | IGF2 CL E G H | 3481 | 5466 | ORPHA:2128 | Isolated hemihyperplasia | HP:0040283 - Occasional | | | 9 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | IGF2 CL E G H | 3481 | 5466 | ORPHA:231144 | Silver-Russell syndrome due to 11p15 microduplication | HP:0040283 - Occasional | | | 9 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | IGF2 CL E G H | 3481 | 5466 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040283 - Occasional | | | 9 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | HP:0040283 - Occasional | | | 52 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 111 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | IRF6 CL E G H | 3664 | 6121 | ORPHA:199302 | Isolated cleft lip | HP:0040284 - Very rare | | | 99 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | IRX5 CL E G H | 10265 | 14361 | OMIM:611174 | Hamamy syndrome | . | | | 4 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | ISL1 CL E G H | 3670 | 6132 | ORPHA:93930 | Bladder exstrophy | HP:0040281 - Very frequent | | | 2 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | ISL1 CL E G H | 3670 | 6132 | ORPHA:93930 | Bladder exstrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | ISL1 CL E G H | 3670 | 6132 | ORPHA:93930 | Bladder exstrophy | HP:0040282 - Frequent | | | 2 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | IYD CL E G H | 389434 | 21071 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040282 - Frequent | | | 130 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 145 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | . | | | 13 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040282 - Frequent | | | 127 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | KCNJ8 CL E G H | 3764 | 6269 | ORPHA:1517 | Hypertrichotic osteochondrodysplasia, Cantu type | HP:0040282 - Frequent | | | 23 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 730 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | KCNQ1OT1 CL E G H | 10984 | 6295 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 1 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | KCNQ1OT1 CL E G H | 10984 | 6295 | ORPHA:2128 | Isolated hemihyperplasia | HP:0040283 - Occasional | | | 1 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | KDM3B CL E G H | 51780 | 1337 | OMIM:618846 | DIETS-JONGMANS SYNDROME; DIJOS | | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | KDM3B CL E G H | 51780 | 1337 | OMIM:618846 | DIETS-JONGMANS SYNDROME; DIJOS | | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | KDM5B CL E G H | 10765 | 18039 | OMIM:618109 | Mental retardation, autosomal recessive 65 | . | | | 2 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | KIF7 CL E G H | 374654 | 30497 | ORPHA:36 | Acrocallosal syndrome | HP:0040283 - Occasional | | | 167 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | KIF7 CL E G H | 374654 | 30497 | OMIM:607131 | Al-Gazali-Bakalinova syndrome | . | | | 167 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | KMT2C CL E G H | 58508 | 13726 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | HP:0040283 - Occasional | | | 99 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | KMT2C CL E G H | 58508 | 13726 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | HP:0040284 - Very rare | | | 99 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 1 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | KNSTRN CL E G H | 90417 | 30767 | OMIM:613328 | Roifman-Chitayat syndrome | . | | | 1 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | LBR CL E G H | 3930 | 6518 | OMIM:169400 | Pelger-Huet anomaly | | | | 70 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | LDHD CL E G H | 197257 | 19708 | OMIM:245450 | LACTIC ACIDURIA DUE TO D-LACTIC ACID | . | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | LFNG CL E G H | 3955 | 6560 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 13 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | LFNG CL E G H | 3955 | 6560 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 13 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | 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:0004299 | HP:0001537 | Umbilical hernia | 1 | 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:0004299 | HP:0001537 | Umbilical hernia | 1 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | LMOD1 CL E G H | 25802 | 6647 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | HP:0040283 - Occasional | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | LMOD1 CL E G H | 25802 | 6647 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | HP:0040283 - Occasional | | | | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | LONP1 CL E G H | 9361 | 9479 | OMIM:600373 | CODAS syndrome | | | | 8 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | LOX CL E G H | 4015 | 6664 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 6 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | LRP2 CL E G H | 4036 | 6694 | OMIM:222448 | Donnai-Barrow syndrome | | | | 289 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | LRP2 CL E G H | 4036 | 6694 | ORPHA:2143 | Donnai-Barrow syndrome | HP:0040282 - Frequent | | | 289 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | LRP2 CL E G H | 4036 | 6694 | OMIM:222448 | Donnai-Barrow syndrome | | | | 289 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | LRP2 CL E G H | 4036 | 6694 | ORPHA:2143 | Donnai-Barrow syndrome | HP:0040282 - Frequent | | | 289 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | LTBP1 CL E G H | 4052 | 6714 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | HP:0040282 - Frequent | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | LTBP1 CL E G H | 4052 | 6714 | OMIM:619451 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E | | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | LTBP4 CL E G H | 8425 | 6717 | OMIM:613177 | Cutis laxa, autosomal recessive, type IC | . | | | 92 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | LTBP4 CL E G H | 8425 | 6717 | OMIM:613177 | Cutis laxa, autosomal recessive, type IC | . | | | 92 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | MAF CL E G H | 4094 | 6776 | ORPHA:1272 | Aymé-Gripp syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | MAMLD1 CL E G H | 10046 | 2568 | ORPHA:95706 | Non-syndromic posterior hypospadias | HP:0040283 - Occasional | | | 5 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | MAN2B1 CL E G H | 4125 | 6826 | OMIM:248500 | Alpha-mannosidosis | . | | | 136 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | HP:0040283 - Occasional | | | 136 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | MAPK1 CL E G H | 5594 | 6871 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | MAPRE2 CL E G H | 10982 | 6891 | ORPHA:2505 | Multiple benign circumferential skin creases on limbs | HP:0040283 - Occasional | | | 4 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | MAPRE2 CL E G H | 10982 | 6891 | ORPHA:2505 | Multiple benign circumferential skin creases on limbs | HP:0040283 - Occasional | | | 4 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | MASP1 CL E G H | 5648 | 6901 | ORPHA:293843 | 3MC syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | MASP1 CL E G H | 5648 | 6901 | OMIM:257920 | 3mc syndrome 1 | . | | | 21 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | MAT2A CL E G H | 4144 | 6904 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 13 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | . | | | 22 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | . | | | 22 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | MDFIC CL E G H | 29969 | 28870 | OMIM:620014 | | | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | MED12 CL E G H | 9968 | 11957 | ORPHA:93932 | FG syndrome type 1 | HP:0040283 - Occasional | | | 228 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | MED12 CL E G H | 9968 | 11957 | ORPHA:93932 | FG syndrome type 1 | HP:0040282 - Frequent | | | 228 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | MED12 CL E G H | 9968 | 11957 | OMIM:300895 | Ohdo syndrome, X-linked | | | | 228 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | MED12 CL E G H | 9968 | 11957 | OMIM:305450 | Opitz-Kaveggia syndrome | . | | | 228 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | MED12 CL E G H | 9968 | 11957 | OMIM:305450 | Opitz-Kaveggia syndrome | . | | | 228 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | MED13L CL E G H | 23389 | 22962 | ORPHA:369891 | Developmental delay-facial dysmorphism syndrome due to MED13L deficiency | HP:0040283 - Occasional | | | 74 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254534 | Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation | HP:0040283 - Occasional | | | 1 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254534 | Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation | HP:0040283 - Occasional | | | 1 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040282 - Frequent | | | 1 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040282 - Frequent | | | 1 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | 1 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | 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:0004299 | HP:0001537 | Umbilical hernia | 1 | MEGF8 CL E G H | 1954 | 3233 | ORPHA:65759 | Carpenter syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | HP:0040283 - Occasional | | | 13 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | MEIS2 CL E G H | 4212 | 7001 | ORPHA:261190 | 15q14 microdeletion syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | MESP2 CL E G H | 145873 | 29659 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 45 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | MESP2 CL E G H | 145873 | 29659 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 45 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | MFAP5 CL E G H | 8076 | 29673 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 11 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | MID1 CL E G H | 4281 | 7095 | ORPHA:2745 | Opitz GBBB syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | MID1 CL E G H | 4281 | 7095 | ORPHA:2745 | Opitz GBBB syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | MID1 CL E G H | 4281 | 7095 | ORPHA:2745 | Opitz GBBB syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | MID1 CL E G H | 4281 | 7095 | OMIM:300000 | Opitz gbbb syndrome, type I | | | | 57 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | MID1 CL E G H | 4281 | 7095 | OMIM:300000 | Opitz gbbb syndrome, type I | | | | 57 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | . | | | 127 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | MMP14 CL E G H | 4323 | 7160 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | HP:0040283 - Occasional | | | 2 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | MMP2 CL E G H | 4313 | 7166 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | HP:0040283 - Occasional | | | 64 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | MSX1 CL E G H | 4487 | 7391 | ORPHA:199302 | Isolated cleft lip | HP:0040284 - Very rare | | | 12 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | MTHFR CL E G H | 4524 | 7436 | ORPHA:563609 | Isolated anencephaly | HP:0040283 - Occasional | | | 183 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | MTOR CL E G H | 2475 | 3942 | OMIM:616638 | Smith-Kingsmore syndrome | . | | | 68 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | MYH11 CL E G H | 4629 | 7569 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 418 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | MYH11 CL E G H | 4629 | 7569 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | HP:0040283 - Occasional | | | 418 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | MYH11 CL E G H | 4629 | 7569 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | HP:0040283 - Occasional | | | 418 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | MYH3 CL E G H | 4621 | 7573 | OMIM:193700 | Arthrogryposis, distal, type 2A | . | | | 166 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | HP:0040283 - Occasional | | | 166 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | HP:0040282 - Frequent | | | 166 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | MYLK CL E G H | 4638 | 7590 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 326 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | MYLK CL E G H | 4638 | 7590 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | HP:0040283 - Occasional | | | 326 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | MYLK CL E G H | 4638 | 7590 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | HP:0040283 - Occasional | | | 326 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | NAA10 CL E G H | 8260 | 18704 | ORPHA:276432 | Ogden syndrome | HP:0040283 - Occasional | | | 23 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | . | | | 23 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | NALCN CL E G H | 259232 | 19082 | OMIM:616266 | Congenital contractures of the limbs and face, hypotonia, and developmental delay | . | | | 48 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | NALCN CL E G H | 259232 | 19082 | OMIM:616266 | Congenital contractures of the limbs and face, hypotonia, and developmental delay | . | | | 48 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | NAT8L CL E G H | 339983 | 26742 | OMIM:614063 | N-ACETYLASPARTATE DEFICIENCY | . | | | 1 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | NDUFA8 CL E G H | 4702 | 7692 | OMIM:619272 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37 | | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:199302 | Isolated cleft lip | HP:0040284 - Very rare | | | 4 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | NEK9 CL E G H | 91754 | 18591 | OMIM:617022 | Lethal congenital contracture syndrome 10 | . | | | 9 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93400 | Congenital sialidosis type 2 | HP:0040283 - Occasional | | | 43 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93400 | Congenital sialidosis type 2 | HP:0040283 - Occasional | | | 43 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93399 | Juvenile sialidosis type 2 | HP:0040283 - Occasional | | | 43 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93399 | Juvenile sialidosis type 2 | HP:0040283 - Occasional | | | 43 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | NEU1 CL E G H | 4758 | 7758 | OMIM:256550 | Neuraminidase deficiency | . | | | 43 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | NEUROD2 CL E G H | 4761 | 7763 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | NFIA CL E G H | 4774 | 7784 | OMIM:613735 | Brain malformations with or without urinary tract defects | . | | | 12 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | . | | | 40 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | . | | | 40 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | . | | | 494 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:95712 | Thyroid ectopia | HP:0040281 - Very frequent | | | 90 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | NOTCH1 CL E G H | 4851 | 7881 | OMIM:616028 | Adams-Oliver syndrome 5 | HP:0040283 - Occasional | | | 452 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | NOTCH1 CL E G H | 4851 | 7881 | OMIM:616028 | Adams-Oliver syndrome 5 | HP:0040283 - Occasional | | | 452 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:102500 | Hajdu-Cheney syndrome | . | | | 138 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:102500 | Hajdu-Cheney syndrome | . | | | 138 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | NOTCH3 CL E G H | 4854 | 7883 | OMIM:130720 | Lateral meningocele syndrome | . | | | 144 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:2789 | Lateral meningocele syndrome | HP:0040282 - Frequent | | | 144 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:2789 | Lateral meningocele syndrome | HP:0040282 - Frequent | | | 144 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | NOTCH3 CL E G H | 4854 | 7883 | OMIM:130720 | Lateral meningocele syndrome | . | | | 144 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | NPHP3 CL E G H | 27031 | 7907 | OMIM:267010 | MECKEL SYNDROME, TYPE 7; MKS7 | | | | 157 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 544 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 544 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | NSD1 CL E G H | 64324 | 14234 | ORPHA:3447 | Weaver syndrome | HP:0040282 - Frequent | | | 544 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | . | | | 34 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | NXN CL E G H | 64359 | 18008 | OMIM:618529 | Robinow syndrome, autosomal recessive 2 | . | | | 2 | | |
HP:0004299 | HP:0002933 | Ventral hernia | 1 | NXN CL E G H | 64359 | 18008 | OMIM:618529 | Robinow syndrome, autosomal recessive 2 | . | | | 2 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | OCLN CL E G H | 100506658 | 8104 | OMIM:251290 | Band-Like calcification with simplified gyration and polymicrogyria | | | | 23 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | OCRL CL E G H | 4952 | 8108 | OMIM:300555 | Dent disease 2 | HP:0040283 - Occasional | | | 88 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040283 - Occasional | | | 88 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040283 - Occasional | | | 88 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | ODC1 CL E G H | 4953 | 8109 | ORPHA:544488 | Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | OFD1 CL E G H | 8481 | 2567 | OMIM:300209 | Simpson-golabi-behmel syndrome, type 2 | . | | | 201 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | P3H1 CL E G H | 64175 | 19316 | OMIM:610915 | Osteogenesis imperfecta, type VIII | . | | | 43 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | PACS1 CL E G H | 55690 | 30032 | ORPHA:329224 | Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome | HP:0040283 - Occasional | | | 24 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | PACS1 CL E G H | 55690 | 30032 | ORPHA:329224 | Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome | HP:0040283 - Occasional | | | 24 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:217385 | 17p13.3 microduplication syndrome | HP:0040283 - Occasional | | | 231 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:531 | Miller-Dieker syndrome | HP:0040283 - Occasional | | | 231 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1349 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | PAX8 CL E G H | 7849 | 8622 | OMIM:218700 | Hypothyroidism, congenital, nongoitrous, 2 | . | | | 63 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | PAX8 CL E G H | 7849 | 8622 | ORPHA:95712 | Thyroid ectopia | HP:0040281 - Very frequent | | | 63 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | PHGDH CL E G H | 26227 | 8923 | ORPHA:79351 | 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form | HP:0040283 - Occasional | | | 37 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | PHGDH CL E G H | 26227 | 8923 | ORPHA:79351 | 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form | HP:0040283 - Occasional | | | 37 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | PI4KA CL E G H | 5297 | 8983 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | HP:0040284 - Very rare | | | 11 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | PIEZO2 CL E G H | 63895 | 26270 | ORPHA:1154 | Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome | HP:0040282 - Frequent | | | 77 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:248700 | Marden-Walker syndrome | . | | | 77 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | PIGP CL E G H | 51227 | 3046 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 2 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | PIGQ CL E G H | 9091 | 14135 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 3 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | PIGQ CL E G H | 9091 | 14135 | OMIM:618548 | MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4 | | | | 3 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | PIGY CL E G H | 84992 | 28213 | OMIM:616809 | Hyperphosphatasia with mental retardation syndrome 6 | | | | 2 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 9 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | PIK3CD CL E G H | 5293 | 8977 | OMIM:613328 | Roifman-Chitayat syndrome | . | | | 9 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:3163 | SHORT syndrome | HP:0040281 - Very frequent | | | 43 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:269880 | Short syndrome | . | | | 43 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | PLAG1 CL E G H | 5324 | 9045 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040283 - Occasional | | | 3 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:96191 | Paternal uniparental disomy of chromosome 6 | HP:0040281 - Very frequent | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040282 - Frequent | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | PLD1 CL E G H | 5337 | 9067 | OMIM:212093 | Cardiac valvular defect, developmental | . | | | 4 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | PLOD1 CL E G H | 5351 | 9081 | OMIM:225400 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 | . | | | 105 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | PLOD1 CL E G H | 5351 | 9081 | ORPHA:1900 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | HP:0040283 - Occasional | | | 105 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | PLOD1 CL E G H | 5351 | 9081 | ORPHA:1900 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | HP:0040283 - Occasional | | | 105 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | PLOD2 CL E G H | 5352 | 9082 | OMIM:609220 | Bruck syndrome 2 | . | | | 45 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | PNKP CL E G H | 11284 | 9154 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 244 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | HP:0040284 - Very rare | | | 35 | | |
HP:0004299 | HP:0002933 | Ventral hernia | 1 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | HP:0040284 - Very rare | | | 35 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | POLR2A CL E G H | 5430 | 9187 | OMIM:618603 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB | | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | POLR3GL CL E G H | 84265 | 28466 | OMIM:619234 | SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM | | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | HP:0040283 - Occasional | | | 20 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | HP:0040283 - Occasional | | | 20 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | HP:0040283 - Occasional | | | 20 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | 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:0004299 | HP:0001539 | Omphalocele | 1 | PPP1R12A CL E G H | 4659 | 7618 | OMIM:618820 | GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS | | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | PPP2CA CL E G H | 5515 | 9299 | OMIM:618354 | Neurodevelopmental disorder and language delay with or without structural brain abnormalities | . | | | 2 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | PPP2CA CL E G H | 5515 | 9299 | OMIM:618354 | Neurodevelopmental disorder and language delay with or without structural brain abnormalities | . | | | 2 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | PPP2R1A CL E G H | 5518 | 9302 | ORPHA:457284 | Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | PPP2R3C CL E G H | 55012 | 17485 | OMIM:618419 | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | HP:0040284 - Very rare | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | PRDM5 CL E G H | 11107 | 9349 | OMIM:614170 | Brittle cornea syndrome 2 | HP:0040283 - Occasional | | | 58 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | PRDM5 CL E G H | 11107 | 9349 | OMIM:614170 | Brittle cornea syndrome 2 | HP:0040283 - Occasional | | | 58 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | PRKG1 CL E G H | 5592 | 9414 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 41 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | PRKG2 CL E G H | 5593 | 9416 | OMIM:619636 | ACROMESOMELIC DYSPLASIA 4; AMD4 | | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | 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:0004299 | HP:0001537 | Umbilical hernia | 1 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | PTCH1 CL E G H | 5727 | 9585 | OMIM:610828 | Holoprosencephaly 7 | | | | 665 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:77301 | Monosomy 9q22.3 | HP:0040281 - Very frequent | | | 665 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | PTDSS1 CL E G H | 9791 | 9587 | ORPHA:2658 | Lenz-Majewski hyperostotic dwarfism | HP:0040282 - Frequent | | | 6 | | |
HP:0004299 | HP:0100541 | Femoral hernia | 1 | PTDSS1 CL E G H | 9791 | 9587 | ORPHA:2658 | Lenz-Majewski hyperostotic dwarfism | HP:0040282 - Frequent | | | 6 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | PTDSS1 CL E G H | 9791 | 9587 | OMIM:151050 | Lenz-Majewski hyperostotic dwarfism | . | | | 6 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | PYCR1 CL E G H | 5831 | 9721 | OMIM:612940 | Cutis laxa, autosomal recessive, type IIB | | | | 53 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | PYCR1 CL E G H | 5831 | 9721 | OMIM:614438 | Cutis laxa, autosomal recessive, type IIIB | . | | | 53 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | RAB23 CL E G H | 51715 | 14263 | ORPHA:65759 | Carpenter syndrome | HP:0040283 - Occasional | | | 31 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | | | | 135 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | RAC1 CL E G H | 5879 | 9801 | OMIM:617751 | Mental retardation, autosomal dominant 48 | | | | 3 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | 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:0004299 | HP:0001537 | Umbilical hernia | 1 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 9 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 391 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | RIC1 CL E G H | 57589 | 17686 | OMIM:618761 | CATIFA SYNDROME; CATIFA | | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | RIN2 CL E G H | 54453 | 18750 | OMIM:613075 | Macs syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | RIN2 CL E G H | 54453 | 18750 | ORPHA:217335 | RIN2 syndrome | HP:0040282 - Frequent | | | 43 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | RIPPLY2 CL E G H | 134701 | 21390 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 3 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | RIPPLY2 CL E G H | 134701 | 21390 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 3 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | RNF13 CL E G H | 11342 | 10057 | OMIM:618379 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73 | | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | RNF13 CL E G H | 11342 | 10057 | ORPHA:544503 | RNF13-related severe early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | RNF2 CL E G H | 6045 | 10061 | OMIM:619460 | LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM | | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040282 - Frequent | | | 120 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040283 - Occasional | | | 120 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | . | | | 120 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | . | | | 120 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 167 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | RPL10 CL E G H | 6134 | 10298 | ORPHA:459070 | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:303600 | Coffin-Lowry syndrome | . | | | 65 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254534 | Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation | HP:0040283 - Occasional | | | | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254534 | Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation | HP:0040283 - Occasional | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040282 - Frequent | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040282 - Frequent | | | | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | . | | | 124 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | SATB2 CL E G H | 23314 | 21637 | OMIM:612313 | Glass syndrome | . | | | 34 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | SCN1B CL E G H | 6324 | 10586 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 126 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | SCN2A CL E G H | 6326 | 10588 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 427 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | SEC31A CL E G H | 22872 | 17052 | OMIM:618651 | HALPERIN-BIRK SYNDROME; HLBKS | | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | SEC31A CL E G H | 22872 | 17052 | OMIM:618651 | HALPERIN-BIRK SYNDROME; HLBKS | | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | SEMA5A CL E G H | 9037 | 10736 | ORPHA:281 | Monosomy 5p | HP:0040283 - Occasional | | | 6 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | SERPINH1 CL E G H | 871 | 1546 | OMIM:613848 | Osteogenesis imperfecta, type X | . | | | 52 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | SET CL E G H | 6418 | 10760 | OMIM:618106 | Mental retardation, autosomal dominant 58 | | | | 1 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040284 - Very rare | | | 143 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040283 - Occasional | | | 143 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 60 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | HP:0040284 - Very rare | | | 60 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | SGSH CL E G H | 6448 | 10818 | OMIM:252900 | Mucopolysaccharidosis type IIIA | | | | 97 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | SGSH CL E G H | 6448 | 10818 | OMIM:252900 | Mucopolysaccharidosis type IIIA | | | | 97 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | SH3PXD2B CL E G H | 285590 | 29242 | ORPHA:137834 | Frank-Ter Haar syndrome | HP:0040283 - Occasional | | | 134 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | SH3PXD2B CL E G H | 285590 | 29242 | ORPHA:137834 | Frank-Ter Haar syndrome | HP:0040283 - Occasional | | | 134 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | SHANK3 CL E G H | 85358 | 14294 | ORPHA:48652 | Monosomy 22q13.3 | HP:0040283 - Occasional | | | 53 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | SHOC2 CL E G H | 8036 | 15454 | OMIM:607721 | Noonan syndrome-like with loose anagen hair 1 | | | | 74 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | SHPK CL E G H | 23729 | 1492 | ORPHA:440713 | Isolated sedoheptulokinase deficiency | HP:0040282 - Frequent | | | 2 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | SIK1 CL E G H | 150094 | 11142 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 11 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | SKI CL E G H | 6497 | 10896 | OMIM:182212 | Shprintzen-Goldberg craniosynostosis syndrome | | | | 150 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | SKI CL E G H | 6497 | 10896 | OMIM:182212 | Shprintzen-Goldberg craniosynostosis syndrome | | | | 150 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | SKI CL E G H | 6497 | 10896 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | SKI CL E G H | 6497 | 10896 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | HP:0040284 - Very rare | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | HP:0040284 - Very rare | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | SLC10A7 CL E G H | 84068 | 23088 | OMIM:618363 | Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis | HP:0040284 - Very rare | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | SLC25A22 CL E G H | 79751 | 19954 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 166 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | SLC25A24 CL E G H | 29957 | 20662 | ORPHA:2095 | Gorlin-Chaudhry-Moss syndrome | HP:0040282 - Frequent | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | SLC25A24 CL E G H | 29957 | 20662 | ORPHA:2963 | Progeroid syndrome, Petty type | HP:0040281 - Very frequent | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93298 | Achondrogenesis type 1B | HP:0040282 - Frequent | | | 166 | | |
HP:0004299 | HP:0100541 | Femoral hernia | 1 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93298 | Achondrogenesis type 1B | HP:0040282 - Frequent | | | 166 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:600972 | Achondrogenesis, type IB | . | | | 166 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:600972 | Achondrogenesis, type IB | . | | | 166 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | SLC2A10 CL E G H | 81031 | 13444 | OMIM:208050 | Arterial tortuosity syndrome | . | | | 178 | | |
HP:0004299 | HP:0100541 | Femoral hernia | 1 | SLC2A10 CL E G H | 81031 | 13444 | ORPHA:3342 | Arterial tortuosity syndrome | HP:0040282 - Frequent | | | 178 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | SLC2A10 CL E G H | 81031 | 13444 | OMIM:208050 | Arterial tortuosity syndrome | . | | | 178 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | SLC2A10 CL E G H | 81031 | 13444 | ORPHA:3342 | Arterial tortuosity syndrome | HP:0040282 - Frequent | | | 178 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | HP:0040283 - Occasional | | | 71 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | SLC35D1 CL E G H | 23169 | 20800 | OMIM:269250 | Schneckenbecken dysplasia | | | | 9 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:619525 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W | | | | 110 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | SLC5A5 CL E G H | 6528 | 11040 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040282 - Frequent | | | 59 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | SLC5A5 CL E G H | 6528 | 11040 | OMIM:274400 | Thyroid hormonogenesis, genetic defect in, 1 | . | | | 59 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | SLC5A6 CL E G H | 8884 | 11041 | OMIM:619903 | | | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | SLC6A5 CL E G H | 9152 | 11051 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040282 - Frequent | | | 81 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 274 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | SMAD2 CL E G H | 4087 | 6768 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 7 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | SMAD3 CL E G H | 4088 | 6769 | ORPHA:284984 | Aneurysm-osteoarthritis syndrome | HP:0040282 - Frequent | | | 260 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | SMAD3 CL E G H | 4088 | 6769 | ORPHA:284984 | Aneurysm-osteoarthritis syndrome | HP:0040282 - Frequent | | | 260 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | SMAD3 CL E G H | 4088 | 6769 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 260 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | SMAD3 CL E G H | 4088 | 6769 | OMIM:613795 | LOEYS-DIETZ SYNDROME 3; LDS3 | | | | 260 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | SMAD3 CL E G H | 4088 | 6769 | OMIM:613795 | LOEYS-DIETZ SYNDROME 3; LDS3 | | | | 260 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 504 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:2588 | Myhre syndrome | HP:0040283 - Occasional | | | 504 | | |
HP:0004299 | HP:0100541 | Femoral hernia | 1 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:2588 | Myhre syndrome | HP:0040283 - Occasional | | | 504 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | SMARCB1 CL E G H | 6598 | 11103 | OMIM:614608 | Coffin-Siris syndrome 3 | | | | 87 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | SMCHD1 CL E G H | 23347 | 29090 | OMIM:603457 | Bosma arhinia microphthalmia syndrome | HP:0040283 - Occasional | | | 174 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | SMCHD1 CL E G H | 23347 | 29090 | ORPHA:2250 | Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome | HP:0040281 - Very frequent | | | 174 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | SNIP1 CL E G H | 79753 | 30587 | OMIM:614501 | Psychomotor retardation, epilepsy, and craniofacial dysmorphism | . | | | 3 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | SOX6 CL E G H | 55553 | 16421 | OMIM:618971 | TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS | | | | 1 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | SPECC1L CL E G H | 23384 | 29022 | OMIM:145420 | Hypertelorism, Teebi type | . | | | 6 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | SPECC1L CL E G H | 23384 | 29022 | ORPHA:1519 | SPECC1L-related hypertelorism syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | SPECC1L CL E G H | 23384 | 29022 | ORPHA:1519 | SPECC1L-related hypertelorism syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | STRA6 CL E G H | 64220 | 30650 | OMIM:601186 | Microphthalmia, syndromic 9 | . | | | 71 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | SUZ12 CL E G H | 23512 | 17101 | OMIM:618786 | IMAGAWA-MATSUMOTO SYNDROME; IMMAS | | | | 1 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | SUZ12 CL E G H | 23512 | 17101 | ORPHA:3447 | Weaver syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | TASP1 CL E G H | 55617 | 15859 | OMIM:618950 | SULEIMAN-EL-HATTAB SYNDROME; SULEHS | | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | . | | | 32 | | |
HP:0004299 | HP:0100541 | Femoral hernia | 1 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | . | | | 32 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | . | | | 32 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | TBX1 CL E G H | 6899 | 11592 | OMIM:192430 | Velocardiofacial syndrome | | | | 32 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | TBX1 CL E G H | 6899 | 11592 | OMIM:192430 | Velocardiofacial syndrome | | | | 32 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | . | | | 100 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | TENT5A CL E G H | 55603 | 18345 | OMIM:617952 | Osteogenesis imperfecta, type XVIII | | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | TG CL E G H | 7038 | 11764 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040282 - Frequent | | | 155 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | TGDS CL E G H | 23483 | 20324 | OMIM:616145 | Catel-Manzke syndrome | . | | | 6 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | TGDS CL E G H | 23483 | 20324 | OMIM:616145 | Catel-Manzke syndrome | . | | | 6 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | TGFB2 CL E G H | 7042 | 11768 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 162 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | TGFB2 CL E G H | 7042 | 11768 | OMIM:614816 | LOEYS-DIETZ SYNDROME 4; LDS4 | | | | 162 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | TGFB3 CL E G H | 7043 | 11769 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 85 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | TGFB3 CL E G H | 7043 | 11769 | OMIM:615582 | LOEYS-DIETZ SYNDROME 5; LDS5 | | | | 85 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | TGFBR1 CL E G H | 7046 | 11772 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 239 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 253 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | TGFBR2 CL E G H | 7048 | 11773 | OMIM:610168 | Loeys-Dietz syndrome 2 | HP:0040283 - Occasional | | | 253 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | TGFBR2 CL E G H | 7048 | 11773 | OMIM:610168 | Loeys-Dietz syndrome 2 | HP:0040283 - Occasional | | | 253 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | THRA CL E G H | 7067 | 11796 | OMIM:614450 | Hypothyroidism, congenital, nongoitrous, 6 | . | | | 9 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | . | | | 6 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | TMEM107 CL E G H | 84314 | 28128 | OMIM:617563 | Orofaciodigital syndrome XVI | . | | | 4 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | TMEM216 CL E G H | 51259 | 25018 | OMIM:603194 | Meckel syndrome, type 2 | | | | 45 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040283 - Occasional | | | 166 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | TMEM70 CL E G H | 54968 | 26050 | OMIM:614052 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 2 | . | | | 63 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | TMEM70 CL E G H | 54968 | 26050 | OMIM:614052 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 2 | . | | | 63 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | TMEM94 CL E G H | 9772 | 28983 | OMIM:618316 | Intellectual developmental disorder with cardiac defects and dysmorphic facies | | | | 1 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | TNRC6B CL E G H | 23112 | 29190 | OMIM:619243 | GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA | | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | TOR1A CL E G H | 1861 | 3098 | OMIM:618947 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5 | | | | 47 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | TOR1A CL E G H | 1861 | 3098 | OMIM:618947 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5 | | | | 47 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | TP63 CL E G H | 8626 | 15979 | ORPHA:93930 | Bladder exstrophy | HP:0040281 - Very frequent | | | 140 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | TP63 CL E G H | 8626 | 15979 | ORPHA:93930 | Bladder exstrophy | HP:0040282 - Frequent | | | 140 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | TP63 CL E G H | 8626 | 15979 | ORPHA:93930 | Bladder exstrophy | HP:0040283 - Occasional | | | 140 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | TP63 CL E G H | 8626 | 15979 | ORPHA:199302 | Isolated cleft lip | HP:0040284 - Very rare | | | 140 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | TPO CL E G H | 7173 | 12015 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040282 - Frequent | | | 92 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | TRAF7 CL E G H | 84231 | 20456 | OMIM:618164 | Cardiac, facial, and digital anomalies with developmental delay | . | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | TRIM8 CL E G H | 81603 | 15579 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 1 | | |
HP:0004299 | HP:0100541 | Femoral hernia | 1 | TRIP11 CL E G H | 9321 | 12305 | ORPHA:93299 | Achondrogenesis type 1A | HP:0040282 - Frequent | | | 133 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | TRIP11 CL E G H | 9321 | 12305 | ORPHA:93299 | Achondrogenesis type 1A | HP:0040282 - Frequent | | | 133 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | | | | 2 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | . | | | 2 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | . | | | 2 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | TSHB CL E G H | 7252 | 12372 | OMIM:275100 | Hypothyroidism, congenital, nongoitrous, 4 | . | | | 9 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | TSHB CL E G H | 7252 | 12372 | OMIM:275100 | Hypothyroidism, congenital, nongoitrous, 4 | . | | | 9 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | HP:0040282 - Frequent | | | 9 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | TSHR CL E G H | 7253 | 12373 | ORPHA:90673 | Hypothyroidism due to TSH receptor mutations | HP:0040283 - Occasional | | | 97 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | TTC7A CL E G H | 57217 | 19750 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | HP:0040284 - Very rare | | | 26 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | TTC7A CL E G H | 57217 | 19750 | OMIM:243150 | Gastrointestinal defects and immunodeficiency syndrome | HP:0040283 - Occasional | | | 26 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | TUBB CL E G H | 203068 | 20778 | ORPHA:2505 | Multiple benign circumferential skin creases on limbs | HP:0040283 - Occasional | | | 14 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | TUBB CL E G H | 203068 | 20778 | ORPHA:2505 | Multiple benign circumferential skin creases on limbs | HP:0040283 - Occasional | | | 14 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:920 | Ablepharon macrostomia syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:920 | Ablepharon macrostomia syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0004299 | HP:0002933 | Ventral hernia | 1 | TWIST2 CL E G H | 117581 | 20670 | OMIM:200110 | Ablepharon-Macrostomia syndrome | . | | | 7 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | TWIST2 CL E G H | 117581 | 20670 | OMIM:200110 | Ablepharon-Macrostomia syndrome | | | | 7 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | TXNL4A CL E G H | 10907 | 30551 | OMIM:608572 | Burn-Mckeown syndrome | | | | 19 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | UBA1 CL E G H | 7317 | 12469 | OMIM:301830 | Spinal muscular atrophy, X-linked 2 | . | | | 35 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 2 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | VANGL2 CL E G H | 57216 | 15511 | ORPHA:563609 | Isolated anencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | HP:0040283 - Occasional | | | 83 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | WDR19 CL E G H | 57728 | 18340 | OMIM:614376 | Short-Rib thoracic dysplasia 5 with or without polydactyly | . | | | 95 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | . | | | 136 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | WDR35 CL E G H | 57539 | 29250 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040283 - Occasional | | | 136 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 98 | | |
HP:0004299 | HP:0100541 | Femoral hernia | 1 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 98 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 98 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | . | | | 98 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | . | | | 98 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 125 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | . | | | 9 | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | YWHAE CL E G H | 7531 | 12851 | ORPHA:217385 | 17p13.3 microduplication syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | YWHAE CL E G H | 7531 | 12851 | ORPHA:531 | Miller-Dieker syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | ZBTB24 CL E G H | 9841 | 21143 | ORPHA:2268 | ICF syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | ZBTB7A CL E G H | 51341 | 18078 | OMIM:619769 | MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH | | | | | | |
HP:0004299 | HP:0000023 | Inguinal hernia | 1 | ZEB1 CL E G H | 6935 | 11642 | OMIM:609141 | Corneal dystrophy, posterior polymorphous, 3 | | | | 8 | | |
HP:0004299 | HP:0001537 | Umbilical hernia | 1 | ZFP57 CL E G H | 346171 | 18791 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040282 - Frequent | | | 30 | | |
HP:0004299 | HP:0001539 | Omphalocele | 1 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | | | | 39 | | |