{
  "url": "https://dantelabs.com/traits/spinal-dysraphism",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "spinal-dysraphism",
    "id": "HP:0010301",
    "name": "Spinal dysraphism",
    "definition": "A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.",
    "synonyms": [
      "Incomplete closure of the vertebral arch"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-nervous-system",
        "name": "Abnormality of the nervous system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-spinal-cord-morphology",
        "name": "Abnormality of the spinal cord",
        "url": "https://dantelabs.com/traits/abnormal-spinal-cord-morphology"
      },
      {
        "slug": "neural-tube-defect",
        "name": "Neural tube defect",
        "url": "https://dantelabs.com/traits/neural-tube-defect"
      }
    ],
    "narrower": [
      {
        "slug": "spina-bifida",
        "name": "Split spine",
        "genes": 60,
        "url": "https://dantelabs.com/traits/spina-bifida"
      },
      {
        "slug": "myeloschisis",
        "name": "Myeloschisis",
        "genes": 1,
        "url": "https://dantelabs.com/traits/myeloschisis"
      }
    ],
    "genes": [
      {
        "slug": "bms1",
        "symbol": "BMS1",
        "hgnc": "HGNC:23505",
        "name": "BMS1 ribosome biogenesis factor",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bms1"
      },
      {
        "slug": "dact1",
        "symbol": "DACT1",
        "hgnc": "HGNC:17748",
        "name": "dishevelled binding antagonist of beta catenin 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dact1"
      },
      {
        "slug": "dll4",
        "symbol": "DLL4",
        "hgnc": "HGNC:2910",
        "name": "delta like canonical Notch ligand 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dll4"
      },
      {
        "slug": "itgb4",
        "symbol": "ITGB4",
        "hgnc": "HGNC:6158",
        "name": "integrin subunit beta 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/itgb4"
      },
      {
        "slug": "plec",
        "symbol": "PLEC",
        "hgnc": "HGNC:9069",
        "name": "plectin",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/plec"
      },
      {
        "slug": "rmrp",
        "symbol": "RMRP",
        "hgnc": "HGNC:10031",
        "name": "RNA component of mitochondrial RNA processing endoribonuclease",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rmrp"
      },
      {
        "slug": "uba2",
        "symbol": "UBA2",
        "hgnc": "HGNC:30661",
        "name": "ubiquitin like modifier activating enzyme 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/uba2"
      },
      {
        "slug": "haao",
        "symbol": "HAAO",
        "hgnc": "HGNC:4796",
        "name": "3-hydroxyanthranilate 3,4-dioxygenase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/haao"
      },
      {
        "slug": "dlk1",
        "symbol": "DLK1",
        "hgnc": "HGNC:2907",
        "name": "delta like non-canonical Notch ligand 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dlk1"
      },
      {
        "slug": "meg3",
        "symbol": "MEG3",
        "hgnc": "HGNC:14575",
        "name": "maternally expressed 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/meg3"
      },
      {
        "slug": "pik3ca",
        "symbol": "PIK3CA",
        "hgnc": "HGNC:8975",
        "name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pik3ca"
      },
      {
        "slug": "rtl1",
        "symbol": "RTL1",
        "hgnc": "HGNC:14665",
        "name": "retrotransposon Gag like 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rtl1"
      },
      {
        "slug": "sox9",
        "symbol": "SOX9",
        "hgnc": "HGNC:11204",
        "name": "SRY-box transcription factor 9",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sox9"
      },
      {
        "slug": "kif22",
        "symbol": "KIF22",
        "hgnc": "HGNC:6391",
        "name": "kinesin family member 22",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kif22"
      },
      {
        "slug": "mthfd1",
        "symbol": "MTHFD1",
        "hgnc": "HGNC:7432",
        "name": "methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mthfd1"
      },
      {
        "slug": "mthfr",
        "symbol": "MTHFR",
        "hgnc": "HGNC:7436",
        "name": "methylenetetrahydrofolate reductase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mthfr"
      },
      {
        "slug": "mtr",
        "symbol": "MTR",
        "hgnc": "HGNC:7468",
        "name": "5-methyltetrahydrofolate-homocysteine methyltransferase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mtr"
      },
      {
        "slug": "mtrr",
        "symbol": "MTRR",
        "hgnc": "HGNC:7473",
        "name": "5-methyltetrahydrofolate-homocysteine methyltransferase reductase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mtrr"
      }
    ]
  }
}