{
  "url": "https://dantelabs.com/traits/spina-bifida",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "spina-bifida",
    "id": "HP:0002414",
    "name": "Split spine",
    "label": "Spina bifida",
    "definition": "Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.",
    "synonyms": [],
    "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": "spinal-dysraphism",
        "name": "Spinal dysraphism",
        "url": "https://dantelabs.com/traits/spinal-dysraphism"
      }
    ],
    "narrower": [
      {
        "slug": "spina-bifida-occulta",
        "name": "Spina bifida occulta",
        "genes": 82,
        "url": "https://dantelabs.com/traits/spina-bifida-occulta"
      },
      {
        "slug": "cervical-spina-bifida",
        "name": "Cervical spina bifida",
        "genes": 2,
        "url": "https://dantelabs.com/traits/cervical-spina-bifida"
      }
    ],
    "genes": [
      {
        "slug": "crebbp",
        "symbol": "CREBBP",
        "hgnc": "HGNC:2348",
        "name": "CREB binding lysine acetyltransferase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/crebbp"
      },
      {
        "slug": "efemp2",
        "symbol": "EFEMP2",
        "hgnc": "HGNC:3219",
        "name": "EGF-like fibulin extracellular matrix protein 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/efemp2"
      },
      {
        "slug": "ep300",
        "symbol": "EP300",
        "hgnc": "HGNC:3373",
        "name": "EP300 lysine acetyltransferase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ep300"
      },
      {
        "slug": "flna",
        "symbol": "FLNA",
        "hgnc": "HGNC:3754",
        "name": "filamin A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/flna"
      },
      {
        "slug": "nr6a1",
        "symbol": "NR6A1",
        "hgnc": "HGNC:7985",
        "name": "nuclear receptor subfamily 6 group A member 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nr6a1"
      },
      {
        "slug": "trim36",
        "symbol": "TRIM36",
        "hgnc": "HGNC:16280",
        "name": "tripartite motif containing 36",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trim36"
      },
      {
        "slug": "nf1",
        "symbol": "NF1",
        "hgnc": "HGNC:7765",
        "name": "neurofibromin 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nf1"
      },
      {
        "slug": "slc25a19",
        "symbol": "SLC25A19",
        "hgnc": "HGNC:14409",
        "name": "solute carrier family 25 member 19",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc25a19"
      },
      {
        "slug": "arvcf",
        "symbol": "ARVCF",
        "hgnc": "HGNC:728",
        "name": "ARVCF delta catenin family member",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arvcf"
      },
      {
        "slug": "brca1",
        "symbol": "BRCA1",
        "hgnc": "HGNC:1100",
        "name": "BRCA1 DNA repair associated",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/brca1"
      },
      {
        "slug": "brca2",
        "symbol": "BRCA2",
        "hgnc": "HGNC:1101",
        "name": "BRCA2 DNA repair associated",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/brca2"
      },
      {
        "slug": "brip1",
        "symbol": "BRIP1",
        "hgnc": "HGNC:20473",
        "name": "BRCA1 interacting DNA helicase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/brip1"
      },
      {
        "slug": "comt",
        "symbol": "COMT",
        "hgnc": "HGNC:2228",
        "name": "catechol-O-methyltransferase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/comt"
      },
      {
        "slug": "ercc4",
        "symbol": "ERCC4",
        "hgnc": "HGNC:3436",
        "name": "ERCC excision repair 4, endonuclease catalytic subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc4"
      },
      {
        "slug": "faap100",
        "symbol": "FAAP100",
        "hgnc": "HGNC:26171",
        "name": "FA core complex associated protein 100",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/faap100"
      },
      {
        "slug": "fanca",
        "symbol": "FANCA",
        "hgnc": "HGNC:3582",
        "name": "FA complementation group A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fanca"
      },
      {
        "slug": "fancb",
        "symbol": "FANCB",
        "hgnc": "HGNC:3583",
        "name": "FA complementation group B",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/fancb"
      },
      {
        "slug": "fancc",
        "symbol": "FANCC",
        "hgnc": "HGNC:3584",
        "name": "FA complementation group C",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancc"
      },
      {
        "slug": "fancd2",
        "symbol": "FANCD2",
        "hgnc": "HGNC:3585",
        "name": "FA complementation group D2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancd2"
      },
      {
        "slug": "fance",
        "symbol": "FANCE",
        "hgnc": "HGNC:3586",
        "name": "FA complementation group E",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fance"
      },
      {
        "slug": "fancf",
        "symbol": "FANCF",
        "hgnc": "HGNC:3587",
        "name": "FA complementation group F",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancf"
      },
      {
        "slug": "fancg",
        "symbol": "FANCG",
        "hgnc": "HGNC:3588",
        "name": "FA complementation group G",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancg"
      },
      {
        "slug": "fanci",
        "symbol": "FANCI",
        "hgnc": "HGNC:25568",
        "name": "FA complementation group I",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fanci"
      },
      {
        "slug": "fancl",
        "symbol": "FANCL",
        "hgnc": "HGNC:20748",
        "name": "FA complementation group L",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancl"
      },
      {
        "slug": "fancm",
        "symbol": "FANCM",
        "hgnc": "HGNC:23168",
        "name": "FA complementation group M",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancm"
      },
      {
        "slug": "fli1",
        "symbol": "FLI1",
        "hgnc": "HGNC:3749",
        "name": "Fli-1 proto-oncogene, ETS transcription factor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fli1"
      },
      {
        "slug": "gdf3",
        "symbol": "GDF3",
        "hgnc": "HGNC:4218",
        "name": "growth differentiation factor 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gdf3"
      },
      {
        "slug": "gdf6",
        "symbol": "GDF6",
        "hgnc": "HGNC:4221",
        "name": "growth differentiation factor 6",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gdf6"
      },
      {
        "slug": "gp1bb",
        "symbol": "GP1BB",
        "hgnc": "HGNC:4440",
        "name": "glycoprotein Ib platelet subunit beta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gp1bb"
      },
      {
        "slug": "hira",
        "symbol": "HIRA",
        "hgnc": "HGNC:4916",
        "name": "histone cell cycle regulator",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hira"
      },
      {
        "slug": "jmjd1c",
        "symbol": "JMJD1C",
        "hgnc": "HGNC:12313",
        "name": "jumonji domain containing 1C",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/jmjd1c"
      },
      {
        "slug": "mad2l2",
        "symbol": "MAD2L2",
        "hgnc": "HGNC:6764",
        "name": "mitotic arrest deficient 2 like 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mad2l2"
      },
      {
        "slug": "meox1",
        "symbol": "MEOX1",
        "hgnc": "HGNC:7013",
        "name": "mesenchyme homeobox 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/meox1"
      },
      {
        "slug": "nek9",
        "symbol": "NEK9",
        "hgnc": "HGNC:18591",
        "name": "NIMA related kinase 9",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nek9"
      },
      {
        "slug": "palb2",
        "symbol": "PALB2",
        "hgnc": "HGNC:26144",
        "name": "partner and localizer of BRCA2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/palb2"
      },
      {
        "slug": "pax3",
        "symbol": "PAX3",
        "hgnc": "HGNC:8617",
        "name": "paired box 3",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pax3"
      },
      {
        "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": "psat1",
        "symbol": "PSAT1",
        "hgnc": "HGNC:19129",
        "name": "phosphoserine aminotransferase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/psat1"
      },
      {
        "slug": "psmd12",
        "symbol": "PSMD12",
        "hgnc": "HGNC:9557",
        "name": "proteasome 26S subunit, non-ATPase 12",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/psmd12"
      },
      {
        "slug": "puf60",
        "symbol": "PUF60",
        "hgnc": "HGNC:17042",
        "name": "poly(U) binding splicing factor 60",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/puf60"
      },
      {
        "slug": "rad51",
        "symbol": "RAD51",
        "hgnc": "HGNC:9817",
        "name": "RAD51 recombinase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rad51"
      },
      {
        "slug": "rad51c",
        "symbol": "RAD51C",
        "hgnc": "HGNC:9820",
        "name": "RAD51 paralog C",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rad51c"
      },
      {
        "slug": "rfwd3",
        "symbol": "RFWD3",
        "hgnc": "HGNC:25539",
        "name": "ring finger and WD repeat domain 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rfwd3"
      },
      {
        "slug": "rreb1",
        "symbol": "RREB1",
        "hgnc": "HGNC:10449",
        "name": "ras responsive element binding protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rreb1"
      },
      {
        "slug": "sec24c",
        "symbol": "SEC24C",
        "hgnc": "HGNC:10705",
        "name": "SEC24 homolog C, COPII component",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sec24c"
      },
      {
        "slug": "slx4",
        "symbol": "SLX4",
        "hgnc": "HGNC:23845",
        "name": "SLX4 structure-specific endonuclease subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slx4"
      },
      {
        "slug": "snrpb",
        "symbol": "SNRPB",
        "hgnc": "HGNC:11153",
        "name": "small nuclear ribonucleoprotein polypeptides B and B1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/snrpb"
      },
      {
        "slug": "sox9",
        "symbol": "SOX9",
        "hgnc": "HGNC:11204",
        "name": "SRY-box transcription factor 9",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sox9"
      },
      {
        "slug": "supt16h",
        "symbol": "SUPT16H",
        "hgnc": "HGNC:11465",
        "name": "SPT16 homolog, facilitates chromatin remodeling subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/supt16h"
      },
      {
        "slug": "tbx1",
        "symbol": "TBX1",
        "hgnc": "HGNC:11592",
        "name": "T-box transcription factor 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbx1"
      },
      {
        "slug": "ube2t",
        "symbol": "UBE2T",
        "hgnc": "HGNC:25009",
        "name": "ubiquitin conjugating enzyme E2 T",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ube2t"
      },
      {
        "slug": "ufd1",
        "symbol": "UFD1",
        "hgnc": "HGNC:12520",
        "name": "ubiquitin recognition factor in ER associated degradation 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ufd1"
      },
      {
        "slug": "xrcc2",
        "symbol": "XRCC2",
        "hgnc": "HGNC:12829",
        "name": "X-ray repair cross complementing 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/xrcc2"
      },
      {
        "slug": "hras",
        "symbol": "HRAS",
        "hgnc": "HGNC:5173",
        "name": "HRas proto-oncogene, GTPase",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hras"
      },
      {
        "slug": "porcn",
        "symbol": "PORCN",
        "hgnc": "HGNC:17652",
        "name": "porcupine O-acyltransferase",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/porcn"
      },
      {
        "slug": "srrm2",
        "symbol": "SRRM2",
        "hgnc": "HGNC:16639",
        "name": "serine/arginine repetitive matrix 2",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/srrm2"
      },
      {
        "slug": "lmx1b",
        "symbol": "LMX1B",
        "hgnc": "HGNC:6654",
        "name": "LIM homeobox transcription factor 1 beta",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lmx1b"
      },
      {
        "slug": "phgdh",
        "symbol": "PHGDH",
        "hgnc": "HGNC:8923",
        "name": "phosphoglycerate dehydrogenase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/phgdh"
      },
      {
        "slug": "ptch1",
        "symbol": "PTCH1",
        "hgnc": "HGNC:9585",
        "name": "patched 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ptch1"
      },
      {
        "slug": "rbm8a",
        "symbol": "RBM8A",
        "hgnc": "HGNC:9905",
        "name": "RNA binding motif protein 8A",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rbm8a"
      }
    ]
  }
}