{
  "url": "https://dantelabs.com/traits/omphalocele",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "omphalocele",
    "id": "HP:0001539",
    "name": "Omphalocele",
    "definition": "A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord.",
    "synonyms": [
      "Exomphalos",
      "Omphalocoele"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-digestive-system",
        "name": "Abnormality of the digestive system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-digestive-system"
      },
      {
        "slug": "abnormality-of-the-musculoskeletal-system",
        "name": "Abnormality of the musculoskeletal system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-musculoskeletal-system"
      }
    ],
    "broader": [
      {
        "slug": "hernia-of-the-abdominal-wall",
        "name": "Hernia of the abdominal wall",
        "url": "https://dantelabs.com/traits/hernia-of-the-abdominal-wall"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "chuk",
        "symbol": "CHUK",
        "hgnc": "HGNC:1974",
        "name": "component of inhibitor of nuclear factor kappa B kinase complex",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chuk"
      },
      {
        "slug": "gli3",
        "symbol": "GLI3",
        "hgnc": "HGNC:4319",
        "name": "GLI family zinc finger 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gli3"
      },
      {
        "slug": "ripk4",
        "symbol": "RIPK4",
        "hgnc": "HGNC:496",
        "name": "receptor interacting serine/threonine kinase 4",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ripk4"
      },
      {
        "slug": "alg9",
        "symbol": "ALG9",
        "hgnc": "HGNC:15672",
        "name": "ALG9 alpha-1,2-mannosyltransferase",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/alg9"
      },
      {
        "slug": "cep120",
        "symbol": "CEP120",
        "hgnc": "HGNC:26690",
        "name": "centrosomal protein 120",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cep120"
      },
      {
        "slug": "flna",
        "symbol": "FLNA",
        "hgnc": "HGNC:3754",
        "name": "filamin A",
        "frequency": "frequent",
        "diseases": 5,
        "url": "https://dantelabs.com/genes/flna"
      },
      {
        "slug": "flnb",
        "symbol": "FLNB",
        "hgnc": "HGNC:3755",
        "name": "filamin B",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/flnb"
      },
      {
        "slug": "frem1",
        "symbol": "FREM1",
        "hgnc": "HGNC:23399",
        "name": "FRAS1 related extracellular matrix 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/frem1"
      },
      {
        "slug": "gpc3",
        "symbol": "GPC3",
        "hgnc": "HGNC:4451",
        "name": "glypican 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gpc3"
      },
      {
        "slug": "gpc4",
        "symbol": "GPC4",
        "hgnc": "HGNC:4452",
        "name": "glypican 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gpc4"
      },
      {
        "slug": "lrp2",
        "symbol": "LRP2",
        "hgnc": "HGNC:6694",
        "name": "LDL receptor related protein 2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/lrp2"
      },
      {
        "slug": "nxn",
        "symbol": "NXN",
        "hgnc": "HGNC:18008",
        "name": "nucleoredoxin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nxn"
      },
      {
        "slug": "plcb4",
        "symbol": "PLCB4",
        "hgnc": "HGNC:9059",
        "name": "phospholipase C beta 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/plcb4"
      },
      {
        "slug": "ppp2r3c",
        "symbol": "PPP2R3C",
        "hgnc": "HGNC:17485",
        "name": "protein phosphatase 2 regulatory subunit B''gamma",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ppp2r3c"
      },
      {
        "slug": "specc1l",
        "symbol": "SPECC1L",
        "hgnc": "HGNC:29022",
        "name": "sperm antigen with calponin homology and coiled-coil domains 1 like",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/specc1l"
      },
      {
        "slug": "tshb",
        "symbol": "TSHB",
        "hgnc": "HGNC:12372",
        "name": "thyroid stimulating hormone subunit beta",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tshb"
      },
      {
        "slug": "twist2",
        "symbol": "TWIST2",
        "hgnc": "HGNC:20670",
        "name": "twist family bHLH transcription factor 2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/twist2"
      },
      {
        "slug": "actg2",
        "symbol": "ACTG2",
        "hgnc": "HGNC:145",
        "name": "actin gamma 2, smooth muscle",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/actg2"
      },
      {
        "slug": "ahdc1",
        "symbol": "AHDC1",
        "hgnc": "HGNC:25230",
        "name": "AT-hook DNA binding motif containing 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ahdc1"
      },
      {
        "slug": "ar",
        "symbol": "AR",
        "hgnc": "HGNC:644",
        "name": "androgen receptor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ar"
      },
      {
        "slug": "bhlha9",
        "symbol": "BHLHA9",
        "hgnc": "HGNC:35126",
        "name": "basic helix-loop-helix family member a9",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bhlha9"
      },
      {
        "slug": "cd96",
        "symbol": "CD96",
        "hgnc": "HGNC:16892",
        "name": "CD96 molecule",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cd96"
      },
      {
        "slug": "col11a1",
        "symbol": "COL11A1",
        "hgnc": "HGNC:2186",
        "name": "collagen type XI alpha 1 chain",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/col11a1"
      },
      {
        "slug": "col11a2",
        "symbol": "COL11A2",
        "hgnc": "HGNC:2187",
        "name": "collagen type XI alpha 2 chain",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col11a2"
      },
      {
        "slug": "dact1",
        "symbol": "DACT1",
        "hgnc": "HGNC:17748",
        "name": "dishevelled binding antagonist of beta catenin 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dact1"
      },
      {
        "slug": "dlk1",
        "symbol": "DLK1",
        "hgnc": "HGNC:2907",
        "name": "delta like non-canonical Notch ligand 1",
        "frequency": "occasional",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/dlk1"
      },
      {
        "slug": "dvl1",
        "symbol": "DVL1",
        "hgnc": "HGNC:3084",
        "name": "dishevelled segment polarity protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dvl1"
      },
      {
        "slug": "dvl3",
        "symbol": "DVL3",
        "hgnc": "HGNC:3087",
        "name": "dishevelled segment polarity protein 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dvl3"
      },
      {
        "slug": "dync2h1",
        "symbol": "DYNC2H1",
        "hgnc": "HGNC:2962",
        "name": "dynein cytoplasmic 2 heavy chain 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dync2h1"
      },
      {
        "slug": "dync2i1",
        "symbol": "DYNC2I1",
        "hgnc": "HGNC:21862",
        "name": "dynein 2 intermediate chain 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dync2i1"
      },
      {
        "slug": "dync2i2",
        "symbol": "DYNC2I2",
        "hgnc": "HGNC:28296",
        "name": "dynein 2 intermediate chain 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dync2i2"
      },
      {
        "slug": "fgfr1",
        "symbol": "FGFR1",
        "hgnc": "HGNC:3688",
        "name": "fibroblast growth factor receptor 1",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/fgfr1"
      },
      {
        "slug": "foxf1",
        "symbol": "FOXF1",
        "hgnc": "HGNC:3809",
        "name": "forkhead box F1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/foxf1"
      },
      {
        "slug": "fras1",
        "symbol": "FRAS1",
        "hgnc": "HGNC:19185",
        "name": "Fraser extracellular matrix complex subunit 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fras1"
      },
      {
        "slug": "frem2",
        "symbol": "FREM2",
        "hgnc": "HGNC:25396",
        "name": "FRAS1 related extracellular matrix 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/frem2"
      },
      {
        "slug": "gad1",
        "symbol": "GAD1",
        "hgnc": "HGNC:4092",
        "name": "glutamate decarboxylase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gad1"
      },
      {
        "slug": "grip1",
        "symbol": "GRIP1",
        "hgnc": "HGNC:18708",
        "name": "glutamate receptor interacting protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/grip1"
      },
      {
        "slug": "hic1",
        "symbol": "HIC1",
        "hgnc": "HGNC:4909",
        "name": "HIC ZBTB transcriptional repressor 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hic1"
      },
      {
        "slug": "hoxd13",
        "symbol": "HOXD13",
        "hgnc": "HGNC:5136",
        "name": "homeobox D13",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hoxd13"
      },
      {
        "slug": "ift80",
        "symbol": "IFT80",
        "hgnc": "HGNC:29262",
        "name": "intraflagellar transport 80",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ift80"
      },
      {
        "slug": "isl1",
        "symbol": "ISL1",
        "hgnc": "HGNC:6132",
        "name": "ISL LIM homeobox 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/isl1"
      },
      {
        "slug": "lmod1",
        "symbol": "LMOD1",
        "hgnc": "HGNC:6647",
        "name": "leiomodin 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lmod1"
      },
      {
        "slug": "lonp1",
        "symbol": "LONP1",
        "hgnc": "HGNC:9479",
        "name": "lon peptidase 1, mitochondrial",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lonp1"
      },
      {
        "slug": "mamld1",
        "symbol": "MAMLD1",
        "hgnc": "HGNC:2568",
        "name": "mastermind like domain containing 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mamld1"
      },
      {
        "slug": "mbtps2",
        "symbol": "MBTPS2",
        "hgnc": "HGNC:15455",
        "name": "membrane bound transcription factor peptidase, site 2",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/mbtps2"
      },
      {
        "slug": "meg3",
        "symbol": "MEG3",
        "hgnc": "HGNC:14575",
        "name": "maternally expressed 3",
        "frequency": "occasional",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/meg3"
      },
      {
        "slug": "mid1",
        "symbol": "MID1",
        "hgnc": "HGNC:7095",
        "name": "midline 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mid1"
      },
      {
        "slug": "mmp14",
        "symbol": "MMP14",
        "hgnc": "HGNC:7160",
        "name": "matrix metallopeptidase 14",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mmp14"
      },
      {
        "slug": "mmp2",
        "symbol": "MMP2",
        "hgnc": "HGNC:7166",
        "name": "matrix metallopeptidase 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mmp2"
      },
      {
        "slug": "mthfr",
        "symbol": "MTHFR",
        "hgnc": "HGNC:7436",
        "name": "methylenetetrahydrofolate reductase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mthfr"
      },
      {
        "slug": "myh11",
        "symbol": "MYH11",
        "hgnc": "HGNC:7569",
        "name": "myosin heavy chain 11",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myh11"
      },
      {
        "slug": "mylk",
        "symbol": "MYLK",
        "hgnc": "HGNC:7590",
        "name": "myosin light chain kinase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mylk"
      },
      {
        "slug": "nek9",
        "symbol": "NEK9",
        "hgnc": "HGNC:18591",
        "name": "NIMA related kinase 9",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nek9"
      },
      {
        "slug": "pafah1b1",
        "symbol": "PAFAH1B1",
        "hgnc": "HGNC:8574",
        "name": "platelet activating factor acetylhydrolase 1b regulatory subunit 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pafah1b1"
      },
      {
        "slug": "pign",
        "symbol": "PIGN",
        "hgnc": "HGNC:8967",
        "name": "phosphatidylinositol glycan anchor biosynthesis class N",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pign"
      },
      {
        "slug": "porcn",
        "symbol": "PORCN",
        "hgnc": "HGNC:17652",
        "name": "porcupine O-acyltransferase",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/porcn"
      },
      {
        "slug": "ppp1r12a",
        "symbol": "PPP1R12A",
        "hgnc": "HGNC:7618",
        "name": "protein phosphatase 1 regulatory subunit 12A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ppp1r12a"
      },
      {
        "slug": "ptch1",
        "symbol": "PTCH1",
        "hgnc": "HGNC:9585",
        "name": "patched 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ptch1"
      },
      {
        "slug": "rtl1",
        "symbol": "RTL1",
        "hgnc": "HGNC:14665",
        "name": "retrotransposon Gag like 1",
        "frequency": "occasional",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/rtl1"
      },
      {
        "slug": "tbc1d32",
        "symbol": "TBC1D32",
        "hgnc": "HGNC:21485",
        "name": "TBC1 domain family member 32",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbc1d32"
      },
      {
        "slug": "tmem216",
        "symbol": "TMEM216",
        "hgnc": "HGNC:25018",
        "name": "transmembrane protein 216",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem216"
      },
      {
        "slug": "tmem94",
        "symbol": "TMEM94",
        "hgnc": "HGNC:28983",
        "name": "transmembrane protein 94",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem94"
      },
      {
        "slug": "tp63",
        "symbol": "TP63",
        "hgnc": "HGNC:15979",
        "name": "tumor protein p63",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tp63"
      },
      {
        "slug": "ttc7a",
        "symbol": "TTC7A",
        "hgnc": "HGNC:19750",
        "name": "tetratricopeptide repeat domain 7A",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ttc7a"
      },
      {
        "slug": "vangl2",
        "symbol": "VANGL2",
        "hgnc": "HGNC:15511",
        "name": "VANGL planar cell polarity protein 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vangl2"
      },
      {
        "slug": "wdr35",
        "symbol": "WDR35",
        "hgnc": "HGNC:29250",
        "name": "WD repeat domain 35",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wdr35"
      },
      {
        "slug": "ywhae",
        "symbol": "YWHAE",
        "hgnc": "HGNC:12851",
        "name": "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ywhae"
      },
      {
        "slug": "zic3",
        "symbol": "ZIC3",
        "hgnc": "HGNC:12874",
        "name": "Zic family zinc finger 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zic3"
      },
      {
        "slug": "amer1",
        "symbol": "AMER1",
        "hgnc": "HGNC:26837",
        "name": "APC membrane recruitment protein 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/amer1"
      },
      {
        "slug": "chd7",
        "symbol": "CHD7",
        "hgnc": "HGNC:20626",
        "name": "chromodomain helicase DNA binding protein 7",
        "frequency": "very-rare",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/chd7"
      },
      {
        "slug": "pi4ka",
        "symbol": "PI4KA",
        "hgnc": "HGNC:8983",
        "name": "phosphatidylinositol 4-kinase alpha",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pi4ka"
      },
      {
        "slug": "sema3e",
        "symbol": "SEMA3E",
        "hgnc": "HGNC:10727",
        "name": "semaphorin 3E",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sema3e"
      },
      {
        "slug": "trrap",
        "symbol": "TRRAP",
        "hgnc": "HGNC:12347",
        "name": "transformation/transcription domain associated protein",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trrap"
      },
      {
        "slug": "cdkn1c",
        "symbol": "CDKN1C",
        "hgnc": "HGNC:1786",
        "name": "cyclin dependent kinase inhibitor 1C",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdkn1c"
      },
      {
        "slug": "hyls1",
        "symbol": "HYLS1",
        "hgnc": "HGNC:26558",
        "name": "HYLS1 centriolar and ciliogenesis associated",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hyls1"
      },
      {
        "slug": "ift81",
        "symbol": "IFT81",
        "hgnc": "HGNC:14313",
        "name": "intraflagellar transport 81",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ift81"
      },
      {
        "slug": "igf2",
        "symbol": "IGF2",
        "hgnc": "HGNC:5466",
        "name": "insulin like growth factor 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/igf2"
      },
      {
        "slug": "kcnq1",
        "symbol": "KCNQ1",
        "hgnc": "HGNC:6294",
        "name": "potassium voltage-gated channel subfamily Q member 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnq1"
      },
      {
        "slug": "kcnq1ot1",
        "symbol": "KCNQ1OT1",
        "hgnc": "HGNC:6295",
        "name": "KCNQ1 opposite strand/antisense transcript 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnq1ot1"
      },
      {
        "slug": "mks1",
        "symbol": "MKS1",
        "hgnc": "HGNC:7121",
        "name": "MKS transition zone complex subunit 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mks1"
      },
      {
        "slug": "nfix",
        "symbol": "NFIX",
        "hgnc": "HGNC:7788",
        "name": "nuclear factor I X",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nfix"
      },
      {
        "slug": "rab23",
        "symbol": "RAB23",
        "hgnc": "HGNC:14263",
        "name": "RAB23, member RAS oncogene family",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rab23"
      },
      {
        "slug": "thra",
        "symbol": "THRA",
        "hgnc": "HGNC:11796",
        "name": "thyroid hormone receptor alpha",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/thra"
      }
    ]
  }
}