{
  "url": "https://dantelabs.com/traits/thickened-calvaria",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "thickened-calvaria",
    "id": "HP:0002684",
    "name": "Increased thickness of skull cap",
    "label": "Thickened calvaria",
    "definition": "The presence of an abnormally thick calvaria.",
    "synonyms": [
      "Thickened skull cap",
      "Calvarial thickening",
      "Calvarium thickened",
      "Increased calvarial thickness",
      "Increased thickness of calvaria",
      "Increased thickness of calvarium",
      "Increased thickness of cranial vault",
      "Thick calvaria",
      "Thick calvarium",
      "Thickened calvarium",
      "Thickened cranial vault",
      "Thickened cranium",
      "Thickening of the calvaria"
    ],
    "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": "ankh",
        "symbol": "ANKH",
        "hgnc": "HGNC:15492",
        "name": "ANKH inorganic pyrophosphate transport regulator",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ankh"
      },
      {
        "slug": "axin1",
        "symbol": "AXIN1",
        "hgnc": "HGNC:903",
        "name": "axin 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/axin1"
      },
      {
        "slug": "flna",
        "symbol": "FLNA",
        "hgnc": "HGNC:3754",
        "name": "filamin A",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/flna"
      },
      {
        "slug": "lrp4",
        "symbol": "LRP4",
        "hgnc": "HGNC:6696",
        "name": "LDL receptor related protein 4",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lrp4"
      },
      {
        "slug": "nono",
        "symbol": "NONO",
        "hgnc": "HGNC:7871",
        "name": "non-POU domain containing octamer binding",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/nono"
      },
      {
        "slug": "plekhm1",
        "symbol": "PLEKHM1",
        "hgnc": "HGNC:29017",
        "name": "pleckstrin homology and RUN domain containing M1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/plekhm1"
      },
      {
        "slug": "pth1r",
        "symbol": "PTH1R",
        "hgnc": "HGNC:9608",
        "name": "parathyroid hormone 1 receptor",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pth1r"
      },
      {
        "slug": "smad4",
        "symbol": "SMAD4",
        "hgnc": "HGNC:6770",
        "name": "SMAD family member 4",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smad4"
      },
      {
        "slug": "sms",
        "symbol": "SMS",
        "hgnc": "HGNC:11123",
        "name": "spermine synthase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sms"
      },
      {
        "slug": "tmem53",
        "symbol": "TMEM53",
        "hgnc": "HGNC:26186",
        "name": "transmembrane protein 53",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem53"
      },
      {
        "slug": "tmem67",
        "symbol": "TMEM67",
        "hgnc": "HGNC:28396",
        "name": "transmembrane protein 67",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem67"
      },
      {
        "slug": "amer1",
        "symbol": "AMER1",
        "hgnc": "HGNC:26837",
        "name": "APC membrane recruitment protein 1",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/amer1"
      },
      {
        "slug": "cdh11",
        "symbol": "CDH11",
        "hgnc": "HGNC:1750",
        "name": "cadherin 11",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdh11"
      },
      {
        "slug": "ctnnb1",
        "symbol": "CTNNB1",
        "hgnc": "HGNC:2514",
        "name": "catenin beta 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ctnnb1"
      },
      {
        "slug": "ifih1",
        "symbol": "IFIH1",
        "hgnc": "HGNC:18873",
        "name": "interferon induced with helicase C domain 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ifih1"
      },
      {
        "slug": "lrp5",
        "symbol": "LRP5",
        "hgnc": "HGNC:6697",
        "name": "LDL receptor related protein 5",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/lrp5"
      },
      {
        "slug": "ptdss1",
        "symbol": "PTDSS1",
        "hgnc": "HGNC:9587",
        "name": "phosphatidylserine synthase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ptdss1"
      },
      {
        "slug": "aga",
        "symbol": "AGA",
        "hgnc": "HGNC:318",
        "name": "aspartylglucosaminidase",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/aga"
      },
      {
        "slug": "col11a1",
        "symbol": "COL11A1",
        "hgnc": "HGNC:2186",
        "name": "collagen type XI alpha 1 chain",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/col11a1"
      },
      {
        "slug": "dvl1",
        "symbol": "DVL1",
        "hgnc": "HGNC:3084",
        "name": "dishevelled segment polarity protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dvl1"
      },
      {
        "slug": "gnas",
        "symbol": "GNAS",
        "hgnc": "HGNC:4392",
        "name": "GNAS complex locus",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/gnas"
      },
      {
        "slug": "notch3",
        "symbol": "NOTCH3",
        "hgnc": "HGNC:7883",
        "name": "notch receptor 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/notch3"
      },
      {
        "slug": "polr3a",
        "symbol": "POLR3A",
        "hgnc": "HGNC:30074",
        "name": "RNA polymerase III subunit A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/polr3a"
      },
      {
        "slug": "ap1s2",
        "symbol": "AP1S2",
        "hgnc": "HGNC:560",
        "name": "adaptor related protein complex 1 subunit sigma 2",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ap1s2"
      },
      {
        "slug": "ca2",
        "symbol": "CA2",
        "hgnc": "HGNC:1373",
        "name": "carbonic anhydrase 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ca2"
      },
      {
        "slug": "glb1",
        "symbol": "GLB1",
        "hgnc": "HGNC:4298",
        "name": "galactosidase beta 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/glb1"
      },
      {
        "slug": "man2b1",
        "symbol": "MAN2B1",
        "hgnc": "HGNC:6826",
        "name": "mannosidase alpha class 2B member 1",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/man2b1"
      },
      {
        "slug": "pde4d",
        "symbol": "PDE4D",
        "hgnc": "HGNC:8783",
        "name": "phosphodiesterase 4D",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pde4d"
      },
      {
        "slug": "snx14",
        "symbol": "SNX14",
        "hgnc": "HGNC:14977",
        "name": "sorting nexin 14",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/snx14"
      },
      {
        "slug": "acbd6",
        "symbol": "ACBD6",
        "hgnc": "HGNC:23339",
        "name": "acyl-CoA binding domain containing 6",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acbd6"
      },
      {
        "slug": "dym",
        "symbol": "DYM",
        "hgnc": "HGNC:21317",
        "name": "dymeclin",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dym"
      },
      {
        "slug": "ercc6",
        "symbol": "ERCC6",
        "hgnc": "HGNC:3438",
        "name": "ERCC excision repair 6, chromatin remodeling factor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc6"
      },
      {
        "slug": "ercc8",
        "symbol": "ERCC8",
        "hgnc": "HGNC:3439",
        "name": "ERCC excision repair 8, CSA ubiquitin ligase complex subunit",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc8"
      },
      {
        "slug": "gnptab",
        "symbol": "GNPTAB",
        "hgnc": "HGNC:29670",
        "name": "N-acetylglucosamine-1-phosphate transferase subunits alpha and beta",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gnptab"
      },
      {
        "slug": "hpgd",
        "symbol": "HPGD",
        "hgnc": "HGNC:5154",
        "name": "15-hydroxyprostaglandin dehydrogenase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hpgd"
      },
      {
        "slug": "phf6",
        "symbol": "PHF6",
        "hgnc": "HGNC:18145",
        "name": "PHD finger protein 6",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/phf6"
      },
      {
        "slug": "rps6ka3",
        "symbol": "RPS6KA3",
        "hgnc": "HGNC:10432",
        "name": "ribosomal protein S6 kinase A3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rps6ka3"
      },
      {
        "slug": "runx2",
        "symbol": "RUNX2",
        "hgnc": "HGNC:10472",
        "name": "RUNX family transcription factor 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/runx2"
      },
      {
        "slug": "sfrp4",
        "symbol": "SFRP4",
        "hgnc": "HGNC:10778",
        "name": "secreted frizzled related protein 4",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sfrp4"
      },
      {
        "slug": "sgms2",
        "symbol": "SGMS2",
        "hgnc": "HGNC:28395",
        "name": "sphingomyelin synthase 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sgms2"
      },
      {
        "slug": "slc17a5",
        "symbol": "SLC17A5",
        "hgnc": "HGNC:10933",
        "name": "solute carrier family 17 member 5",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc17a5"
      },
      {
        "slug": "tnfrsf11b",
        "symbol": "TNFRSF11B",
        "hgnc": "HGNC:11909",
        "name": "TNF receptor superfamily member 11b",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tnfrsf11b"
      }
    ]
  }
}