{
  "url": "https://dantelabs.com/traits/vertebral-segmentation-defect",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "vertebral-segmentation-defect",
    "id": "HP:0003422",
    "name": "Vertebral segmentation defect",
    "definition": "An abnormality related to a defect of vertebral separation during development.",
    "synonyms": [
      "Abnormal spinal segmentation"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-musculoskeletal-system",
        "name": "Abnormality of the musculoskeletal system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-musculoskeletal-system"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-vertebral-morphology",
        "name": "Abnormal vertebral morphology",
        "url": "https://dantelabs.com/traits/abnormal-vertebral-morphology"
      }
    ],
    "narrower": [
      {
        "slug": "hemivertebrae",
        "name": "Missing part of vertebrae",
        "genes": 56,
        "url": "https://dantelabs.com/traits/hemivertebrae"
      },
      {
        "slug": "vertebral-fusion",
        "name": "Vertebral fusion",
        "genes": 37,
        "url": "https://dantelabs.com/traits/vertebral-fusion"
      },
      {
        "slug": "cervical-segmentation-defect",
        "name": "Cervical segmentation defect",
        "genes": 1,
        "url": "https://dantelabs.com/traits/cervical-segmentation-defect"
      },
      {
        "slug": "sacral-segmentation-defect",
        "name": "Sacral segmentation defect",
        "genes": 0,
        "url": "https://dantelabs.com/traits/sacral-segmentation-defect"
      }
    ],
    "genes": [
      {
        "slug": "hes7",
        "symbol": "HES7",
        "hgnc": "HGNC:15977",
        "name": "hes family bHLH transcription factor 7",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/hes7"
      },
      {
        "slug": "hnrnpk",
        "symbol": "HNRNPK",
        "hgnc": "HGNC:5044",
        "name": "heterogeneous nuclear ribonucleoprotein K",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/hnrnpk"
      },
      {
        "slug": "kynu",
        "symbol": "KYNU",
        "hgnc": "HGNC:6469",
        "name": "kynureninase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kynu"
      },
      {
        "slug": "lfng",
        "symbol": "LFNG",
        "hgnc": "HGNC:6560",
        "name": "LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/lfng"
      },
      {
        "slug": "col2a1",
        "symbol": "COL2A1",
        "hgnc": "HGNC:2200",
        "name": "collagen type II alpha 1 chain",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col2a1"
      },
      {
        "slug": "dll3",
        "symbol": "DLL3",
        "hgnc": "HGNC:2909",
        "name": "delta like canonical Notch ligand 3",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/dll3"
      },
      {
        "slug": "gpc3",
        "symbol": "GPC3",
        "hgnc": "HGNC:4451",
        "name": "glypican 3",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/gpc3"
      },
      {
        "slug": "gpc4",
        "symbol": "GPC4",
        "hgnc": "HGNC:4452",
        "name": "glypican 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gpc4"
      },
      {
        "slug": "hras",
        "symbol": "HRAS",
        "hgnc": "HGNC:5173",
        "name": "HRas proto-oncogene, GTPase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hras"
      },
      {
        "slug": "kras",
        "symbol": "KRAS",
        "hgnc": "HGNC:6407",
        "name": "KRas proto-oncogene, GTPase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kras"
      },
      {
        "slug": "mesp2",
        "symbol": "MESP2",
        "hgnc": "HGNC:29659",
        "name": "mesoderm posterior bHLH transcription factor 2",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/mesp2"
      },
      {
        "slug": "nras",
        "symbol": "NRAS",
        "hgnc": "HGNC:7989",
        "name": "NRAS proto-oncogene, GTPase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nras"
      },
      {
        "slug": "nxn",
        "symbol": "NXN",
        "hgnc": "HGNC:18008",
        "name": "nucleoredoxin",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nxn"
      },
      {
        "slug": "ripply2",
        "symbol": "RIPPLY2",
        "hgnc": "HGNC:21390",
        "name": "ripply transcriptional repressor 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ripply2"
      },
      {
        "slug": "ror2",
        "symbol": "ROR2",
        "hgnc": "HGNC:10257",
        "name": "ROR family WNT receptor 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ror2"
      },
      {
        "slug": "tbx6",
        "symbol": "TBX6",
        "hgnc": "HGNC:11605",
        "name": "T-box transcription factor 6",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tbx6"
      },
      {
        "slug": "chrng",
        "symbol": "CHRNG",
        "hgnc": "HGNC:1967",
        "name": "cholinergic receptor nicotinic gamma subunit",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chrng"
      },
      {
        "slug": "cog1",
        "symbol": "COG1",
        "hgnc": "HGNC:6545",
        "name": "component of oligomeric golgi complex 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cog1"
      },
      {
        "slug": "fgfr2",
        "symbol": "FGFR2",
        "hgnc": "HGNC:3689",
        "name": "fibroblast growth factor receptor 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgfr2"
      },
      {
        "slug": "hnf1b",
        "symbol": "HNF1B",
        "hgnc": "HGNC:11630",
        "name": "HNF1 homeobox B",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hnf1b"
      },
      {
        "slug": "hoxd13",
        "symbol": "HOXD13",
        "hgnc": "HGNC:5136",
        "name": "homeobox D13",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hoxd13"
      },
      {
        "slug": "myh3",
        "symbol": "MYH3",
        "hgnc": "HGNC:7573",
        "name": "myosin heavy chain 3",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/myh3"
      },
      {
        "slug": "nalcn",
        "symbol": "NALCN",
        "hgnc": "HGNC:19082",
        "name": "sodium leak channel, non-selective",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nalcn"
      },
      {
        "slug": "tmco1",
        "symbol": "TMCO1",
        "hgnc": "HGNC:18188",
        "name": "transmembrane and coiled-coil domains 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmco1"
      },
      {
        "slug": "tnni2",
        "symbol": "TNNI2",
        "hgnc": "HGNC:11946",
        "name": "troponin I2, fast skeletal type",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tnni2"
      },
      {
        "slug": "tnnt3",
        "symbol": "TNNT3",
        "hgnc": "HGNC:11950",
        "name": "troponin T3, fast skeletal type",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tnnt3"
      },
      {
        "slug": "tpm2",
        "symbol": "TPM2",
        "hgnc": "HGNC:12011",
        "name": "tropomyosin 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tpm2"
      },
      {
        "slug": "wnt4",
        "symbol": "WNT4",
        "hgnc": "HGNC:12783",
        "name": "Wnt family member 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wnt4"
      },
      {
        "slug": "baz1b",
        "symbol": "BAZ1B",
        "hgnc": "HGNC:961",
        "name": "bromodomain adjacent to zinc finger domain 1B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/baz1b"
      },
      {
        "slug": "bud23",
        "symbol": "BUD23",
        "hgnc": "HGNC:16405",
        "name": "BUD23 rRNA methyltransferase and ribosome maturation factor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bud23"
      },
      {
        "slug": "cdc45",
        "symbol": "CDC45",
        "hgnc": "HGNC:1739",
        "name": "cell division cycle 45",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdc45"
      },
      {
        "slug": "chrm3",
        "symbol": "CHRM3",
        "hgnc": "HGNC:1952",
        "name": "cholinergic receptor muscarinic 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chrm3"
      },
      {
        "slug": "clip2",
        "symbol": "CLIP2",
        "hgnc": "HGNC:2586",
        "name": "CAP-Gly domain containing linker protein 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/clip2"
      },
      {
        "slug": "dnajc30",
        "symbol": "DNAJC30",
        "hgnc": "HGNC:16410",
        "name": "DnaJ heat shock protein family (Hsp40) member C30",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnajc30"
      },
      {
        "slug": "eif4h",
        "symbol": "EIF4H",
        "hgnc": "HGNC:12741",
        "name": "eukaryotic translation initiation factor 4H",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eif4h"
      },
      {
        "slug": "eln",
        "symbol": "ELN",
        "hgnc": "HGNC:3327",
        "name": "elastin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eln"
      },
      {
        "slug": "fkbp6",
        "symbol": "FKBP6",
        "hgnc": "HGNC:3722",
        "name": "FKBP prolyl isomerase family member 6 (inactive)",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fkbp6"
      },
      {
        "slug": "flnb",
        "symbol": "FLNB",
        "hgnc": "HGNC:3755",
        "name": "filamin B",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/flnb"
      },
      {
        "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": "grip1",
        "symbol": "GRIP1",
        "hgnc": "HGNC:18708",
        "name": "glutamate receptor interacting protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/grip1"
      },
      {
        "slug": "gtf2i",
        "symbol": "GTF2I",
        "hgnc": "HGNC:4659",
        "name": "general transcription factor IIi",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gtf2i"
      },
      {
        "slug": "gtf2ird1",
        "symbol": "GTF2IRD1",
        "hgnc": "HGNC:4661",
        "name": "GTF2I repeat domain containing 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gtf2ird1"
      },
      {
        "slug": "gtf2ird2",
        "symbol": "GTF2IRD2",
        "hgnc": "HGNC:30775",
        "name": "GTF2I repeat domain containing 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gtf2ird2"
      },
      {
        "slug": "limk1",
        "symbol": "LIMK1",
        "hgnc": "HGNC:6613",
        "name": "LIM domain kinase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/limk1"
      },
      {
        "slug": "mettl27",
        "symbol": "METTL27",
        "hgnc": "HGNC:19068",
        "name": "methyltransferase like 27",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mettl27"
      },
      {
        "slug": "ncf1",
        "symbol": "NCF1",
        "hgnc": "HGNC:7660",
        "name": "neutrophil cytosolic factor 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ncf1"
      },
      {
        "slug": "rfc2",
        "symbol": "RFC2",
        "hgnc": "HGNC:9970",
        "name": "replication factor C subunit 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rfc2"
      },
      {
        "slug": "sall4",
        "symbol": "SALL4",
        "hgnc": "HGNC:15924",
        "name": "spalt like transcription factor 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sall4"
      },
      {
        "slug": "stx1a",
        "symbol": "STX1A",
        "hgnc": "HGNC:11433",
        "name": "syntaxin 1A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stx1a"
      },
      {
        "slug": "tbl2",
        "symbol": "TBL2",
        "hgnc": "HGNC:11586",
        "name": "transducin beta like 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbl2"
      },
      {
        "slug": "tmem270",
        "symbol": "TMEM270",
        "hgnc": "HGNC:23018",
        "name": "transmembrane protein 270",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem270"
      },
      {
        "slug": "vps37d",
        "symbol": "VPS37D",
        "hgnc": "HGNC:18287",
        "name": "VPS37D subunit of ESCRT-I",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vps37d"
      },
      {
        "slug": "mid1",
        "symbol": "MID1",
        "hgnc": "HGNC:7095",
        "name": "midline 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mid1"
      },
      {
        "slug": "bmper",
        "symbol": "BMPER",
        "hgnc": "HGNC:24154",
        "name": "BMP binding endothelial regulator",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bmper"
      },
      {
        "slug": "nadsyn1",
        "symbol": "NADSYN1",
        "hgnc": "HGNC:29832",
        "name": "NAD synthetase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nadsyn1"
      }
    ]
  }
}