{
  "url": "https://dantelabs.com/traits/epispadias",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "epispadias",
    "id": "HP:0000039",
    "name": "Epispadias",
    "definition": "Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias.",
    "synonyms": [],
    "systems": [
      {
        "slug": "abnormality-of-the-genitourinary-system",
        "name": "Abnormality of the genitourinary system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-genitourinary-system"
      }
    ],
    "broader": [
      {
        "slug": "displacement-of-the-urethral-meatus",
        "name": "Displacement of the urethral meatus",
        "url": "https://dantelabs.com/traits/displacement-of-the-urethral-meatus"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "top2b",
        "symbol": "TOP2B",
        "hgnc": "HGNC:11990",
        "name": "DNA topoisomerase II beta",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/top2b"
      },
      {
        "slug": "isl1",
        "symbol": "ISL1",
        "hgnc": "HGNC:6132",
        "name": "ISL LIM homeobox 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/isl1"
      },
      {
        "slug": "tp63",
        "symbol": "TP63",
        "hgnc": "HGNC:15979",
        "name": "tumor protein p63",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tp63"
      },
      {
        "slug": "c2cd3",
        "symbol": "C2CD3",
        "hgnc": "HGNC:24564",
        "name": "C2 domain containing 3 centriole elongation regulator",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/c2cd3"
      },
      {
        "slug": "dync2li1",
        "symbol": "DYNC2LI1",
        "hgnc": "HGNC:24595",
        "name": "dynein cytoplasmic 2 light intermediate chain 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dync2li1"
      },
      {
        "slug": "evc",
        "symbol": "EVC",
        "hgnc": "HGNC:3497",
        "name": "EvC ciliary complex subunit 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/evc"
      },
      {
        "slug": "evc2",
        "symbol": "EVC2",
        "hgnc": "HGNC:19747",
        "name": "EvC ciliary complex subunit 2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/evc2"
      },
      {
        "slug": "gli1",
        "symbol": "GLI1",
        "hgnc": "HGNC:4317",
        "name": "GLI family zinc finger 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gli1"
      },
      {
        "slug": "prkaca",
        "symbol": "PRKACA",
        "hgnc": "HGNC:9380",
        "name": "protein kinase cAMP-activated catalytic subunit alpha",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prkaca"
      },
      {
        "slug": "prkacb",
        "symbol": "PRKACB",
        "hgnc": "HGNC:9381",
        "name": "protein kinase cAMP-activated catalytic subunit beta",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prkacb"
      },
      {
        "slug": "ptdss1",
        "symbol": "PTDSS1",
        "hgnc": "HGNC:9587",
        "name": "phosphatidylserine synthase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ptdss1"
      },
      {
        "slug": "ankrd11",
        "symbol": "ANKRD11",
        "hgnc": "HGNC:21316",
        "name": "ankyrin repeat domain 11",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ankrd11"
      },
      {
        "slug": "cdc45",
        "symbol": "CDC45",
        "hgnc": "HGNC:1739",
        "name": "cell division cycle 45",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdc45"
      },
      {
        "slug": "cdc6",
        "symbol": "CDC6",
        "hgnc": "HGNC:1744",
        "name": "cell division cycle 6",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdc6"
      },
      {
        "slug": "cdt1",
        "symbol": "CDT1",
        "hgnc": "HGNC:24576",
        "name": "chromatin licensing and DNA replication factor 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdt1"
      },
      {
        "slug": "cox7b",
        "symbol": "COX7B",
        "hgnc": "HGNC:2291",
        "name": "cytochrome c oxidase subunit 7B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cox7b"
      },
      {
        "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": "fzd2",
        "symbol": "FZD2",
        "hgnc": "HGNC:4040",
        "name": "frizzled class receptor 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fzd2"
      },
      {
        "slug": "gmnn",
        "symbol": "GMNN",
        "hgnc": "HGNC:17493",
        "name": "geminin DNA replication inhibitor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gmnn"
      },
      {
        "slug": "hccs",
        "symbol": "HCCS",
        "hgnc": "HGNC:4837",
        "name": "holocytochrome c synthase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hccs"
      },
      {
        "slug": "kras",
        "symbol": "KRAS",
        "hgnc": "HGNC:6407",
        "name": "KRas proto-oncogene, GTPase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kras"
      },
      {
        "slug": "ndufb11",
        "symbol": "NDUFB11",
        "hgnc": "HGNC:20372",
        "name": "NADH:ubiquinone oxidoreductase subunit B11",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufb11"
      },
      {
        "slug": "orc1",
        "symbol": "ORC1",
        "hgnc": "HGNC:8487",
        "name": "origin recognition complex subunit 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/orc1"
      },
      {
        "slug": "orc4",
        "symbol": "ORC4",
        "hgnc": "HGNC:8490",
        "name": "origin recognition complex subunit 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/orc4"
      },
      {
        "slug": "orc6",
        "symbol": "ORC6",
        "hgnc": "HGNC:17151",
        "name": "origin recognition complex subunit 6",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/orc6"
      },
      {
        "slug": "piezo2",
        "symbol": "PIEZO2",
        "hgnc": "HGNC:26270",
        "name": "piezo type mechanosensitive ion channel component 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/piezo2"
      },
      {
        "slug": "smad4",
        "symbol": "SMAD4",
        "hgnc": "HGNC:6770",
        "name": "SMAD family member 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smad4"
      },
      {
        "slug": "sry",
        "symbol": "SRY",
        "hgnc": "HGNC:11311",
        "name": "sex determining region Y",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sry"
      },
      {
        "slug": "wnt5a",
        "symbol": "WNT5A",
        "hgnc": "HGNC:12784",
        "name": "Wnt family member 5A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wnt5a"
      }
    ]
  }
}