{
  "url": "https://dantelabs.com/traits/syringomyelia",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "syringomyelia",
    "id": "HP:0003396",
    "name": "Fluid-filled cyst in spinal cord",
    "label": "Syringomyelia",
    "definition": "Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord.",
    "synonyms": [
      "Syrinx"
    ],
    "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-cord-lesion",
        "name": "Spinal cord lesion",
        "url": "https://dantelabs.com/traits/spinal-cord-lesion"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "alpk3",
        "symbol": "ALPK3",
        "hgnc": "HGNC:17574",
        "name": "alpha kinase 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alpk3"
      },
      {
        "slug": "arhgap19",
        "symbol": "ARHGAP19",
        "hgnc": "HGNC:23724",
        "name": "Rho GTPase activating protein 19",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arhgap19"
      },
      {
        "slug": "kdm1a",
        "symbol": "KDM1A",
        "hgnc": "HGNC:29079",
        "name": "lysine demethylase 1A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kdm1a"
      },
      {
        "slug": "lrrc7",
        "symbol": "LRRC7",
        "hgnc": "HGNC:18531",
        "name": "leucine rich repeat containing 7",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lrrc7"
      },
      {
        "slug": "polr1a",
        "symbol": "POLR1A",
        "hgnc": "HGNC:17264",
        "name": "RNA polymerase I subunit A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/polr1a"
      },
      {
        "slug": "tm2d3",
        "symbol": "TM2D3",
        "hgnc": "HGNC:24128",
        "name": "TM2 domain containing 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tm2d3"
      },
      {
        "slug": "clp1",
        "symbol": "CLP1",
        "hgnc": "HGNC:16999",
        "name": "cleavage factor polyribonucleotide kinase subunit 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/clp1"
      },
      {
        "slug": "ddhd2",
        "symbol": "DDHD2",
        "hgnc": "HGNC:29106",
        "name": "DDHD domain containing 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ddhd2"
      },
      {
        "slug": "dkk1",
        "symbol": "DKK1",
        "hgnc": "HGNC:2891",
        "name": "dickkopf Wnt signaling pathway inhibitor 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dkk1"
      },
      {
        "slug": "fbln1",
        "symbol": "FBLN1",
        "hgnc": "HGNC:3600",
        "name": "fibulin 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbln1"
      },
      {
        "slug": "hnrnpk",
        "symbol": "HNRNPK",
        "hgnc": "HGNC:5044",
        "name": "heterogeneous nuclear ribonucleoprotein K",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hnrnpk"
      },
      {
        "slug": "il11ra",
        "symbol": "IL11RA",
        "hgnc": "HGNC:5967",
        "name": "interleukin 11 receptor subunit alpha",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/il11ra"
      },
      {
        "slug": "notch3",
        "symbol": "NOTCH3",
        "hgnc": "HGNC:7883",
        "name": "notch receptor 3",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/notch3"
      },
      {
        "slug": "sparc",
        "symbol": "SPARC",
        "hgnc": "HGNC:11219",
        "name": "secreted protein acidic and cysteine rich",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sparc"
      },
      {
        "slug": "abca1",
        "symbol": "ABCA1",
        "hgnc": "HGNC:29",
        "name": "ATP binding cassette subfamily A member 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abca1"
      },
      {
        "slug": "acy1",
        "symbol": "ACY1",
        "hgnc": "HGNC:177",
        "name": "aminoacylase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acy1"
      },
      {
        "slug": "ccnq",
        "symbol": "CCNQ",
        "hgnc": "HGNC:28434",
        "name": "cyclin Q",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ccnq"
      },
      {
        "slug": "cog4",
        "symbol": "COG4",
        "hgnc": "HGNC:18620",
        "name": "component of oligomeric golgi complex 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cog4"
      },
      {
        "slug": "ctnnb1",
        "symbol": "CTNNB1",
        "hgnc": "HGNC:2514",
        "name": "catenin beta 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ctnnb1"
      },
      {
        "slug": "fbxo11",
        "symbol": "FBXO11",
        "hgnc": "HGNC:13590",
        "name": "F-box protein 11",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbxo11"
      },
      {
        "slug": "fem1b",
        "symbol": "FEM1B",
        "hgnc": "HGNC:3649",
        "name": "fem-1 homolog B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fem1b"
      },
      {
        "slug": "foxf1",
        "symbol": "FOXF1",
        "hgnc": "HGNC:3809",
        "name": "forkhead box F1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/foxf1"
      },
      {
        "slug": "hmga2",
        "symbol": "HMGA2",
        "hgnc": "HGNC:5009",
        "name": "high mobility group AT-hook 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hmga2"
      },
      {
        "slug": "lemd3",
        "symbol": "LEMD3",
        "hgnc": "HGNC:28887",
        "name": "LEM domain containing 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lemd3"
      },
      {
        "slug": "mau2",
        "symbol": "MAU2",
        "hgnc": "HGNC:29140",
        "name": "MAU2 sister chromatid cohesion factor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mau2"
      },
      {
        "slug": "notch2",
        "symbol": "NOTCH2",
        "hgnc": "HGNC:7882",
        "name": "notch receptor 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/notch2"
      },
      {
        "slug": "nras",
        "symbol": "NRAS",
        "hgnc": "HGNC:7989",
        "name": "NRAS proto-oncogene, GTPase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nras"
      },
      {
        "slug": "rai1",
        "symbol": "RAI1",
        "hgnc": "HGNC:9834",
        "name": "retinoic acid induced 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rai1"
      },
      {
        "slug": "crebbp",
        "symbol": "CREBBP",
        "hgnc": "HGNC:2348",
        "name": "CREB binding lysine acetyltransferase",
        "frequency": "very-rare",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/crebbp"
      },
      {
        "slug": "ep300",
        "symbol": "EP300",
        "hgnc": "HGNC:3373",
        "name": "EP300 lysine acetyltransferase",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ep300"
      },
      {
        "slug": "ext1",
        "symbol": "EXT1",
        "hgnc": "HGNC:3512",
        "name": "exostosin glycosyltransferase 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ext1"
      },
      {
        "slug": "ext2",
        "symbol": "EXT2",
        "hgnc": "HGNC:3513",
        "name": "exostosin glycosyltransferase 2",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ext2"
      },
      {
        "slug": "rbm8a",
        "symbol": "RBM8A",
        "hgnc": "HGNC:9905",
        "name": "RNA binding motif protein 8A",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rbm8a"
      },
      {
        "slug": "sh2b1",
        "symbol": "SH2B1",
        "hgnc": "HGNC:30417",
        "name": "SH2B adaptor protein 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sh2b1"
      },
      {
        "slug": "tbx6",
        "symbol": "TBX6",
        "hgnc": "HGNC:11605",
        "name": "T-box transcription factor 6",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbx6"
      },
      {
        "slug": "ddr2",
        "symbol": "DDR2",
        "hgnc": "HGNC:2731",
        "name": "discoidin domain receptor tyrosine kinase 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ddr2"
      },
      {
        "slug": "nfia",
        "symbol": "NFIA",
        "hgnc": "HGNC:7784",
        "name": "nuclear factor I A",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nfia"
      },
      {
        "slug": "runx2",
        "symbol": "RUNX2",
        "hgnc": "HGNC:10472",
        "name": "RUNX family transcription factor 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/runx2"
      },
      {
        "slug": "setd2",
        "symbol": "SETD2",
        "hgnc": "HGNC:18420",
        "name": "SET domain containing 2, histone lysine methyltransferase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/setd2"
      }
    ]
  }
}