{
  "url": "https://dantelabs.com/traits/abnormal-long-bone-morphology",
  "trait": {
    "bundleId": "2026.10.18-8b139e39",
    "release": "2026-09-01",
    "slug": "abnormal-long-bone-morphology",
    "id": "HP:0011314",
    "name": "Abnormal shape of long bone",
    "label": "Abnormal long bone morphology",
    "definition": "An abnormality of size or shape of the long bones.",
    "synonyms": [
      "Abnormality of long bone morphology",
      "Abnormality of the tubular bones"
    ],
    "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": "abnormal-appendicular-skeleton-morphology",
        "name": "Abnormal appendicular skeleton morphology",
        "url": "https://dantelabs.com/traits/abnormal-appendicular-skeleton-morphology"
      }
    ],
    "narrower": [
      {
        "slug": "abnormal-metaphysis-morphology",
        "name": "Abnormality of the wide portion of a long bone",
        "genes": 95,
        "url": "https://dantelabs.com/traits/abnormal-metaphysis-morphology"
      },
      {
        "slug": "abnormal-epiphysis-morphology",
        "name": "Abnormal shape of end part of bone",
        "genes": 90,
        "url": "https://dantelabs.com/traits/abnormal-epiphysis-morphology"
      },
      {
        "slug": "short-long-bone",
        "name": "Short long bone",
        "genes": 78,
        "url": "https://dantelabs.com/traits/short-long-bone"
      },
      {
        "slug": "abnormal-morphology-of-ulna",
        "name": "Abnormal morphology of ulna",
        "genes": 50,
        "url": "https://dantelabs.com/traits/abnormal-morphology-of-ulna"
      },
      {
        "slug": "slender-long-bone",
        "name": "Slender long bone",
        "genes": 47,
        "url": "https://dantelabs.com/traits/slender-long-bone"
      },
      {
        "slug": "abnormal-diaphysis-morphology",
        "name": "Abnormal shape of shaft of long bone",
        "genes": 15,
        "url": "https://dantelabs.com/traits/abnormal-diaphysis-morphology"
      },
      {
        "slug": "thickened-cortex-of-long-bones",
        "name": "Thickened cortex of long bones",
        "genes": 10,
        "url": "https://dantelabs.com/traits/thickened-cortex-of-long-bones"
      },
      {
        "slug": "broad-long-bones",
        "name": "Broad long bones",
        "genes": 9,
        "url": "https://dantelabs.com/traits/broad-long-bones"
      },
      {
        "slug": "abnormal-humerus-morphology",
        "name": "Abnormal humerus morphology",
        "genes": 7,
        "url": "https://dantelabs.com/traits/abnormal-humerus-morphology"
      },
      {
        "slug": "phocomelia",
        "name": "Phocomelia",
        "genes": 7,
        "url": "https://dantelabs.com/traits/phocomelia"
      },
      {
        "slug": "crumpled-long-bones",
        "name": "Crumpled long bones",
        "genes": 6,
        "url": "https://dantelabs.com/traits/crumpled-long-bones"
      },
      {
        "slug": "overtubulated-long-bones",
        "name": "Overtubulated long bones",
        "genes": 6,
        "url": "https://dantelabs.com/traits/overtubulated-long-bones"
      },
      {
        "slug": "pseudoarthrosis",
        "name": "Pseudoarthrosis",
        "genes": 4,
        "url": "https://dantelabs.com/traits/pseudoarthrosis"
      },
      {
        "slug": "increased-density-of-long-bones",
        "name": "Increased density of long bones",
        "genes": 2,
        "url": "https://dantelabs.com/traits/increased-density-of-long-bones"
      },
      {
        "slug": "melorheostosis",
        "name": "Melorheostosis",
        "genes": 2,
        "url": "https://dantelabs.com/traits/melorheostosis"
      },
      {
        "slug": "periosteal-thickening-of-long-tubular-bones",
        "name": "Periosteal thickening of long tubular bones",
        "genes": 2,
        "url": "https://dantelabs.com/traits/periosteal-thickening-of-long-tubular-bones"
      },
      {
        "slug": "protuberances-at-ends-of-long-bones",
        "name": "Protuberances at ends of long bones",
        "genes": 2,
        "url": "https://dantelabs.com/traits/protuberances-at-ends-of-long-bones"
      },
      {
        "slug": "bent-long-bone",
        "name": "Bent long bone",
        "genes": 1,
        "url": "https://dantelabs.com/traits/bent-long-bone"
      },
      {
        "slug": "bowdler-spurs",
        "name": "Bowdler spurs",
        "genes": 1,
        "url": "https://dantelabs.com/traits/bowdler-spurs"
      },
      {
        "slug": "long-bone-fracture",
        "name": "Long-bone fracture",
        "genes": 0,
        "url": "https://dantelabs.com/traits/long-bone-fracture"
      }
    ],
    "genes": [
      {
        "slug": "col11a2",
        "symbol": "COL11A2",
        "hgnc": "HGNC:2187",
        "name": "collagen type XI alpha 2 chain",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col11a2"
      },
      {
        "slug": "lemd3",
        "symbol": "LEMD3",
        "hgnc": "HGNC:28887",
        "name": "LEM domain containing 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lemd3"
      },
      {
        "slug": "tmem67",
        "symbol": "TMEM67",
        "hgnc": "HGNC:28396",
        "name": "transmembrane protein 67",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem67"
      },
      {
        "slug": "gnptab",
        "symbol": "GNPTAB",
        "hgnc": "HGNC:29670",
        "name": "N-acetylglucosamine-1-phosphate transferase subunits alpha and beta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gnptab"
      },
      {
        "slug": "hnrnpa1",
        "symbol": "HNRNPA1",
        "hgnc": "HGNC:5031",
        "name": "heterogeneous nuclear ribonucleoprotein A1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hnrnpa1"
      },
      {
        "slug": "hnrnpa2b1",
        "symbol": "HNRNPA2B1",
        "hgnc": "HGNC:5033",
        "name": "heterogeneous nuclear ribonucleoprotein A2/B1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hnrnpa2b1"
      },
      {
        "slug": "slc35a2",
        "symbol": "SLC35A2",
        "hgnc": "HGNC:11022",
        "name": "solute carrier family 35 member A2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc35a2"
      },
      {
        "slug": "vcp",
        "symbol": "VCP",
        "hgnc": "HGNC:12666",
        "name": "valosin containing protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vcp"
      },
      {
        "slug": "ctns",
        "symbol": "CTNS",
        "hgnc": "HGNC:2518",
        "name": "cystinosin, lysosomal cystine transporter",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ctns"
      }
    ]
  }
}