{
  "url": "https://dantelabs.com/traits/dural-ectasia",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "dural-ectasia",
    "id": "HP:0100775",
    "name": "Dural ectasia",
    "definition": "A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level.",
    "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": "abnormal-spinal-meningeal-morphology",
        "name": "Abnormal spinal meningeal morphology",
        "url": "https://dantelabs.com/traits/abnormal-spinal-meningeal-morphology"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "efemp1",
        "symbol": "EFEMP1",
        "hgnc": "HGNC:3218",
        "name": "EGF-like fibulin extracellular matrix protein 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/efemp1"
      },
      {
        "slug": "fbn1",
        "symbol": "FBN1",
        "hgnc": "HGNC:3603",
        "name": "fibrillin 1",
        "frequency": "obligate",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/fbn1"
      },
      {
        "slug": "tgfbr1",
        "symbol": "TGFBR1",
        "hgnc": "HGNC:11772",
        "name": "transforming growth factor beta receptor 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tgfbr1"
      },
      {
        "slug": "notch3",
        "symbol": "NOTCH3",
        "hgnc": "HGNC:7883",
        "name": "notch receptor 3",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/notch3"
      },
      {
        "slug": "mfap5",
        "symbol": "MFAP5",
        "hgnc": "HGNC:29673",
        "name": "microfibril associated protein 5",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/mfap5"
      },
      {
        "slug": "smad3",
        "symbol": "SMAD3",
        "hgnc": "HGNC:6769",
        "name": "SMAD family member 3",
        "frequency": "frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/smad3"
      },
      {
        "slug": "tgfb2",
        "symbol": "TGFB2",
        "hgnc": "HGNC:11768",
        "name": "transforming growth factor beta 2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tgfb2"
      },
      {
        "slug": "tgfbr2",
        "symbol": "TGFBR2",
        "hgnc": "HGNC:11773",
        "name": "transforming growth factor beta receptor 2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tgfbr2"
      },
      {
        "slug": "acta2",
        "symbol": "ACTA2",
        "hgnc": "HGNC:130",
        "name": "actin alpha 2, smooth muscle",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acta2"
      },
      {
        "slug": "efemp2",
        "symbol": "EFEMP2",
        "hgnc": "HGNC:3219",
        "name": "EGF-like fibulin extracellular matrix protein 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/efemp2"
      },
      {
        "slug": "eln",
        "symbol": "ELN",
        "hgnc": "HGNC:3327",
        "name": "elastin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eln"
      },
      {
        "slug": "foxe3",
        "symbol": "FOXE3",
        "hgnc": "HGNC:3808",
        "name": "forkhead box E3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/foxe3"
      },
      {
        "slug": "hey2",
        "symbol": "HEY2",
        "hgnc": "HGNC:4881",
        "name": "hes related family bHLH transcription factor with YRPW motif 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hey2"
      },
      {
        "slug": "lox",
        "symbol": "LOX",
        "hgnc": "HGNC:6664",
        "name": "lysyl oxidase",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/lox"
      },
      {
        "slug": "mat2a",
        "symbol": "MAT2A",
        "hgnc": "HGNC:6904",
        "name": "methionine adenosyltransferase 2A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mat2a"
      },
      {
        "slug": "myh11",
        "symbol": "MYH11",
        "hgnc": "HGNC:7569",
        "name": "myosin heavy chain 11",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myh11"
      },
      {
        "slug": "mylk",
        "symbol": "MYLK",
        "hgnc": "HGNC:7590",
        "name": "myosin light chain kinase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mylk"
      },
      {
        "slug": "prkg1",
        "symbol": "PRKG1",
        "hgnc": "HGNC:9414",
        "name": "protein kinase cGMP-dependent 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prkg1"
      },
      {
        "slug": "rasa1",
        "symbol": "RASA1",
        "hgnc": "HGNC:9871",
        "name": "RAS p21 protein activator 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rasa1"
      },
      {
        "slug": "rnu5b-1",
        "symbol": "RNU5B-1",
        "hgnc": "HGNC:10212",
        "name": "RNA, U5B small nuclear 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu5b-1"
      },
      {
        "slug": "smad2",
        "symbol": "SMAD2",
        "hgnc": "HGNC:6768",
        "name": "SMAD family member 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smad2"
      },
      {
        "slug": "smad4",
        "symbol": "SMAD4",
        "hgnc": "HGNC:6770",
        "name": "SMAD family member 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smad4"
      },
      {
        "slug": "tgfb3",
        "symbol": "TGFB3",
        "hgnc": "HGNC:11769",
        "name": "transforming growth factor beta 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tgfb3"
      },
      {
        "slug": "thsd4",
        "symbol": "THSD4",
        "hgnc": "HGNC:25835",
        "name": "thrombospondin type 1 domain containing 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/thsd4"
      },
      {
        "slug": "nf1",
        "symbol": "NF1",
        "hgnc": "HGNC:7765",
        "name": "neurofibromin 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nf1"
      }
    ]
  }
}