{
  "url": "https://dantelabs.com/traits/phthisis-bulbi",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "phthisis-bulbi",
    "id": "HP:0000667",
    "name": "Phthisis bulbi",
    "definition": "Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease.",
    "synonyms": [],
    "systems": [
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-eye-morphology",
        "name": "Abnormal eye structure",
        "url": "https://dantelabs.com/traits/abnormal-eye-morphology"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "mark3",
        "symbol": "MARK3",
        "hgnc": "HGNC:6897",
        "name": "microtubule affinity regulating kinase 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mark3"
      },
      {
        "slug": "brd4",
        "symbol": "BRD4",
        "hgnc": "HGNC:13575",
        "name": "bromodomain containing 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/brd4"
      },
      {
        "slug": "cdh11",
        "symbol": "CDH11",
        "hgnc": "HGNC:1750",
        "name": "cadherin 11",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdh11"
      },
      {
        "slug": "hdac8",
        "symbol": "HDAC8",
        "hgnc": "HGNC:13315",
        "name": "histone deacetylase 8",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hdac8"
      },
      {
        "slug": "hmx1",
        "symbol": "HMX1",
        "hgnc": "HGNC:5017",
        "name": "H6 family homeobox 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hmx1"
      },
      {
        "slug": "mau2",
        "symbol": "MAU2",
        "hgnc": "HGNC:29140",
        "name": "MAU2 sister chromatid cohesion factor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mau2"
      },
      {
        "slug": "nipbl",
        "symbol": "NIPBL",
        "hgnc": "HGNC:28862",
        "name": "NIPBL cohesin loading factor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nipbl"
      },
      {
        "slug": "rad21",
        "symbol": "RAD21",
        "hgnc": "HGNC:9811",
        "name": "RAD21 cohesin complex component",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rad21"
      },
      {
        "slug": "smc1a",
        "symbol": "SMC1A",
        "hgnc": "HGNC:11111",
        "name": "structural maintenance of chromosomes 1A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smc1a"
      },
      {
        "slug": "smc3",
        "symbol": "SMC3",
        "hgnc": "HGNC:2468",
        "name": "structural maintenance of chromosomes 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smc3"
      },
      {
        "slug": "atoh7",
        "symbol": "ATOH7",
        "hgnc": "HGNC:13907",
        "name": "atonal bHLH transcription factor 7",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/atoh7"
      },
      {
        "slug": "bcor",
        "symbol": "BCOR",
        "hgnc": "HGNC:20893",
        "name": "BCL6 corepressor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bcor"
      },
      {
        "slug": "foxe3",
        "symbol": "FOXE3",
        "hgnc": "HGNC:3808",
        "name": "forkhead box E3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/foxe3"
      },
      {
        "slug": "fzd4",
        "symbol": "FZD4",
        "hgnc": "HGNC:4042",
        "name": "frizzled class receptor 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fzd4"
      },
      {
        "slug": "lim2",
        "symbol": "LIM2",
        "hgnc": "HGNC:6610",
        "name": "lens intrinsic membrane protein 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lim2"
      },
      {
        "slug": "ndp",
        "symbol": "NDP",
        "hgnc": "HGNC:7678",
        "name": "norrin cystine knot growth factor NDP",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndp"
      },
      {
        "slug": "tmem53",
        "symbol": "TMEM53",
        "hgnc": "HGNC:26186",
        "name": "transmembrane protein 53",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem53"
      },
      {
        "slug": "col18a1",
        "symbol": "COL18A1",
        "hgnc": "HGNC:2195",
        "name": "collagen type XVIII alpha 1 chain",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col18a1"
      },
      {
        "slug": "lrp5",
        "symbol": "LRP5",
        "hgnc": "HGNC:6697",
        "name": "LDL receptor related protein 5",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lrp5"
      }
    ]
  }
}