{
  "url": "https://dantelabs.com/traits/upper-limb-phocomelia",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "upper-limb-phocomelia",
    "id": "HP:0009813",
    "name": "Upper limb phocomelia",
    "definition": "Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).",
    "synonyms": [],
    "systems": [
      {
        "slug": "abnormality-of-limbs",
        "name": "Abnormality of limbs",
        "url": "https://dantelabs.com/traits/abnormality-of-limbs"
      },
      {
        "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-involving-bones-of-the-upper-limbs",
        "name": "Absent/small bones of the upper limbs",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-involving-bones-of-the-upper-limbs"
      },
      {
        "slug": "phocomelia",
        "name": "Phocomelia",
        "url": "https://dantelabs.com/traits/phocomelia"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "lmbr1",
        "symbol": "LMBR1",
        "hgnc": "HGNC:13243",
        "name": "limb development membrane protein 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lmbr1"
      },
      {
        "slug": "tbx5",
        "symbol": "TBX5",
        "hgnc": "HGNC:11604",
        "name": "T-box transcription factor 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbx5"
      }
    ]
  }
}