{
  "url": "https://dantelabs.com/traits/mandibular-aplasia",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "mandibular-aplasia",
    "id": "HP:0009939",
    "name": "Absence of lower jaw bones",
    "label": "Mandibular aplasia",
    "definition": "Absence of the mandible.",
    "synonyms": [
      "Failure of development of lower jaw",
      "Missing lower jaw",
      "Absence of lower jaw",
      "Absence of lower jaw bone",
      "Absence of mandible",
      "Absent mandible",
      "Agenesis of the mandible",
      "Aplasia of the lower jaw bone",
      "Failure of development of mandible"
    ],
    "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": "aplasia-hypoplasia-of-the-mandible",
        "name": "Aplasia/Hypoplasia of the mandible",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-mandible"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "prrx1",
        "symbol": "PRRX1",
        "hgnc": "HGNC:9142",
        "name": "paired related homeobox 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/prrx1"
      },
      {
        "slug": "cdc45",
        "symbol": "CDC45",
        "hgnc": "HGNC:1739",
        "name": "cell division cycle 45",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdc45"
      },
      {
        "slug": "cdc6",
        "symbol": "CDC6",
        "hgnc": "HGNC:1744",
        "name": "cell division cycle 6",
        "frequency": "very-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": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdt1"
      },
      {
        "slug": "gmnn",
        "symbol": "GMNN",
        "hgnc": "HGNC:17493",
        "name": "geminin DNA replication inhibitor",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gmnn"
      },
      {
        "slug": "orc1",
        "symbol": "ORC1",
        "hgnc": "HGNC:8487",
        "name": "origin recognition complex subunit 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/orc1"
      },
      {
        "slug": "orc4",
        "symbol": "ORC4",
        "hgnc": "HGNC:8490",
        "name": "origin recognition complex subunit 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/orc4"
      },
      {
        "slug": "orc6",
        "symbol": "ORC6",
        "hgnc": "HGNC:17151",
        "name": "origin recognition complex subunit 6",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/orc6"
      },
      {
        "slug": "otx2",
        "symbol": "OTX2",
        "hgnc": "HGNC:8522",
        "name": "orthodenticle homeobox 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/otx2"
      },
      {
        "slug": "cox7b",
        "symbol": "COX7B",
        "hgnc": "HGNC:2291",
        "name": "cytochrome c oxidase subunit 7B",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cox7b"
      },
      {
        "slug": "fam20c",
        "symbol": "FAM20C",
        "hgnc": "HGNC:22140",
        "name": "FAM20C golgi associated secretory pathway kinase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fam20c"
      },
      {
        "slug": "hccs",
        "symbol": "HCCS",
        "hgnc": "HGNC:4837",
        "name": "holocytochrome c synthase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hccs"
      },
      {
        "slug": "ndufb11",
        "symbol": "NDUFB11",
        "hgnc": "HGNC:20372",
        "name": "NADH:ubiquinone oxidoreductase subunit B11",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufb11"
      }
    ]
  }
}