{
  "url": "https://dantelabs.com/traits/aplastic-clavicle",
  "trait": {
    "bundleId": "2026.10.16-c6eea6bf",
    "release": "2026-09-01",
    "slug": "aplastic-clavicle",
    "id": "HP:0006660",
    "name": "Absent collarbone",
    "label": "Aplastic clavicle",
    "definition": "Absence of the clavicles as a developmental defect.",
    "synonyms": [
      "Absent clavicles",
      "Aplastic clavicles"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-musculoskeletal-system",
        "name": "Abnormality of the musculoskeletal system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-musculoskeletal-system"
      }
    ],
    "broader": [
      {
        "slug": "aplasia-hypoplasia-of-the-clavicles",
        "name": "Absent/small collarbone",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-clavicles"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "fig4",
        "symbol": "FIG4",
        "hgnc": "HGNC:16873",
        "name": "FIG4 phosphoinositide 5-phosphatase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fig4"
      },
      {
        "slug": "ptdss1",
        "symbol": "PTDSS1",
        "hgnc": "HGNC:9587",
        "name": "phosphatidylserine synthase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ptdss1"
      },
      {
        "slug": "pth1r",
        "symbol": "PTH1R",
        "hgnc": "HGNC:9608",
        "name": "parathyroid hormone 1 receptor",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pth1r"
      },
      {
        "slug": "rnu12",
        "symbol": "RNU12",
        "hgnc": "HGNC:19380",
        "name": "RNA, U12 small nuclear",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu12"
      },
      {
        "slug": "rnu4atac",
        "symbol": "RNU4ATAC",
        "hgnc": "HGNC:34016",
        "name": "RNA, U4atac small nuclear",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu4atac"
      },
      {
        "slug": "cdc45",
        "symbol": "CDC45",
        "hgnc": "HGNC:1739",
        "name": "cell division cycle 45",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdc45"
      },
      {
        "slug": "cdc6",
        "symbol": "CDC6",
        "hgnc": "HGNC:1744",
        "name": "cell division cycle 6",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdc6"
      },
      {
        "slug": "cdt1",
        "symbol": "CDT1",
        "hgnc": "HGNC:24576",
        "name": "chromatin licensing and DNA replication factor 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdt1"
      },
      {
        "slug": "gmnn",
        "symbol": "GMNN",
        "hgnc": "HGNC:17493",
        "name": "geminin DNA replication inhibitor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gmnn"
      },
      {
        "slug": "orc1",
        "symbol": "ORC1",
        "hgnc": "HGNC:8487",
        "name": "origin recognition complex subunit 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/orc1"
      },
      {
        "slug": "orc4",
        "symbol": "ORC4",
        "hgnc": "HGNC:8490",
        "name": "origin recognition complex subunit 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/orc4"
      },
      {
        "slug": "orc6",
        "symbol": "ORC6",
        "hgnc": "HGNC:17151",
        "name": "origin recognition complex subunit 6",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/orc6"
      },
      {
        "slug": "pigl",
        "symbol": "PIGL",
        "hgnc": "HGNC:8966",
        "name": "phosphatidylinositol glycan anchor biosynthesis class L",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pigl"
      },
      {
        "slug": "runx2",
        "symbol": "RUNX2",
        "hgnc": "HGNC:10472",
        "name": "RUNX family transcription factor 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/runx2"
      },
      {
        "slug": "atp7a",
        "symbol": "ATP7A",
        "hgnc": "HGNC:869",
        "name": "ATPase copper transporting alpha",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp7a"
      },
      {
        "slug": "cbfb",
        "symbol": "CBFB",
        "hgnc": "HGNC:1539",
        "name": "core-binding factor subunit beta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cbfb"
      },
      {
        "slug": "kiaa0586",
        "symbol": "KIAA0586",
        "hgnc": "HGNC:19960",
        "name": "KIAA0586",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kiaa0586"
      },
      {
        "slug": "sall4",
        "symbol": "SALL4",
        "hgnc": "HGNC:15924",
        "name": "spalt like transcription factor 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sall4"
      },
      {
        "slug": "ctsk",
        "symbol": "CTSK",
        "hgnc": "HGNC:2536",
        "name": "cathepsin K",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ctsk"
      }
    ]
  }
}