{
  "url": "https://dantelabs.com/traits/platybasia",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "platybasia",
    "id": "HP:0002691",
    "name": "Flattening of the skull base",
    "label": "Platybasia",
    "definition": "A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base.",
    "synonyms": [
      "Increased basal angle of skull base",
      "Obtuse basal angle of skull base"
    ],
    "systems": [
      {
        "slug": "abnormality-of-head-or-neck",
        "name": "Abnormality of head or neck",
        "url": "https://dantelabs.com/traits/abnormality-of-head-or-neck"
      },
      {
        "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-calvaria-morphology",
        "name": "Abnormality of cranium",
        "url": "https://dantelabs.com/traits/abnormal-calvaria-morphology"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "arvcf",
        "symbol": "ARVCF",
        "hgnc": "HGNC:728",
        "name": "ARVCF delta catenin family member",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arvcf"
      },
      {
        "slug": "comt",
        "symbol": "COMT",
        "hgnc": "HGNC:2228",
        "name": "catechol-O-methyltransferase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/comt"
      },
      {
        "slug": "gp1bb",
        "symbol": "GP1BB",
        "hgnc": "HGNC:4440",
        "name": "glycoprotein Ib platelet subunit beta",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gp1bb"
      },
      {
        "slug": "hira",
        "symbol": "HIRA",
        "hgnc": "HGNC:4916",
        "name": "histone cell cycle regulator",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hira"
      },
      {
        "slug": "jmjd1c",
        "symbol": "JMJD1C",
        "hgnc": "HGNC:12313",
        "name": "jumonji domain containing 1C",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/jmjd1c"
      },
      {
        "slug": "rreb1",
        "symbol": "RREB1",
        "hgnc": "HGNC:10449",
        "name": "ras responsive element binding protein 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rreb1"
      },
      {
        "slug": "sec24c",
        "symbol": "SEC24C",
        "hgnc": "HGNC:10705",
        "name": "SEC24 homolog C, COPII component",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sec24c"
      },
      {
        "slug": "tbx1",
        "symbol": "TBX1",
        "hgnc": "HGNC:11592",
        "name": "T-box transcription factor 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbx1"
      },
      {
        "slug": "ufd1",
        "symbol": "UFD1",
        "hgnc": "HGNC:12520",
        "name": "ubiquitin recognition factor in ER associated degradation 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ufd1"
      },
      {
        "slug": "zic1",
        "symbol": "ZIC1",
        "hgnc": "HGNC:12872",
        "name": "Zic family zinc finger 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zic1"
      },
      {
        "slug": "zic4",
        "symbol": "ZIC4",
        "hgnc": "HGNC:20393",
        "name": "Zic family zinc finger 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zic4"
      },
      {
        "slug": "kdm6b",
        "symbol": "KDM6B",
        "hgnc": "HGNC:29012",
        "name": "lysine demethylase 6B",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kdm6b"
      },
      {
        "slug": "lbr",
        "symbol": "LBR",
        "hgnc": "HGNC:6518",
        "name": "lamin B receptor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lbr"
      },
      {
        "slug": "notch2",
        "symbol": "NOTCH2",
        "hgnc": "HGNC:7882",
        "name": "notch receptor 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/notch2"
      },
      {
        "slug": "sik3",
        "symbol": "SIK3",
        "hgnc": "HGNC:29165",
        "name": "SIK family kinase 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sik3"
      },
      {
        "slug": "sh2b1",
        "symbol": "SH2B1",
        "hgnc": "HGNC:30417",
        "name": "SH2B adaptor protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sh2b1"
      },
      {
        "slug": "col1a1",
        "symbol": "COL1A1",
        "hgnc": "HGNC:2197",
        "name": "collagen type I alpha 1 chain",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col1a1"
      },
      {
        "slug": "col1a2",
        "symbol": "COL1A2",
        "hgnc": "HGNC:2198",
        "name": "collagen type I alpha 2 chain",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col1a2"
      },
      {
        "slug": "flnb",
        "symbol": "FLNB",
        "hgnc": "HGNC:3755",
        "name": "filamin B",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/flnb"
      },
      {
        "slug": "notch3",
        "symbol": "NOTCH3",
        "hgnc": "HGNC:7883",
        "name": "notch receptor 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/notch3"
      }
    ]
  }
}