{
  "url": "https://dantelabs.com/traits/absent-hand",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "absent-hand",
    "id": "HP:0004050",
    "name": "Absent hand",
    "definition": "The total absence of the hand, with no bony elements distal to the radius or ulna.",
    "synonyms": [
      "Acheiria"
    ],
    "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-hand",
        "name": "Absent/small hand bones",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-involving-bones-of-the-hand"
      },
      {
        "slug": "transverse-terminal-upper-limb-defect",
        "name": "Transverse terminal upper limb defect",
        "url": "https://dantelabs.com/traits/transverse-terminal-upper-limb-defect"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "arhgap31",
        "symbol": "ARHGAP31",
        "hgnc": "HGNC:29216",
        "name": "Rho GTPase activating protein 31",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arhgap31"
      },
      {
        "slug": "dll4",
        "symbol": "DLL4",
        "hgnc": "HGNC:2910",
        "name": "delta like canonical Notch ligand 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dll4"
      },
      {
        "slug": "dock6",
        "symbol": "DOCK6",
        "hgnc": "HGNC:19189",
        "name": "dedicator of cytokinesis 6",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dock6"
      },
      {
        "slug": "eogt",
        "symbol": "EOGT",
        "hgnc": "HGNC:28526",
        "name": "EGF domain specific O-linked N-acetylglucosamine transferase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eogt"
      },
      {
        "slug": "lmbr1",
        "symbol": "LMBR1",
        "hgnc": "HGNC:13243",
        "name": "limb development membrane protein 1",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/lmbr1"
      },
      {
        "slug": "notch1",
        "symbol": "NOTCH1",
        "hgnc": "HGNC:7881",
        "name": "notch receptor 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/notch1"
      },
      {
        "slug": "rbpj",
        "symbol": "RBPJ",
        "hgnc": "HGNC:5724",
        "name": "recombination signal binding protein for immunoglobulin kappa J region",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rbpj"
      },
      {
        "slug": "btrc",
        "symbol": "BTRC",
        "hgnc": "HGNC:1144",
        "name": "beta-transducin repeat containing E3 ubiquitin protein ligase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/btrc"
      },
      {
        "slug": "dlx5",
        "symbol": "DLX5",
        "hgnc": "HGNC:2918",
        "name": "distal-less homeobox 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dlx5"
      },
      {
        "slug": "dlx6",
        "symbol": "DLX6",
        "hgnc": "HGNC:2919",
        "name": "distal-less homeobox 6",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dlx6"
      },
      {
        "slug": "eps15l1",
        "symbol": "EPS15L1",
        "hgnc": "HGNC:24634",
        "name": "epidermal growth factor receptor pathway substrate 15 like 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eps15l1"
      },
      {
        "slug": "fbxw4",
        "symbol": "FBXW4",
        "hgnc": "HGNC:10847",
        "name": "F-box and WD repeat domain containing 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbxw4"
      },
      {
        "slug": "plxnd1",
        "symbol": "PLXND1",
        "hgnc": "HGNC:9107",
        "name": "plexin D1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/plxnd1"
      },
      {
        "slug": "rev3l",
        "symbol": "REV3L",
        "hgnc": "HGNC:9968",
        "name": "REV3 like, DNA directed polymerase zeta catalytic subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rev3l"
      },
      {
        "slug": "sem1",
        "symbol": "SEM1",
        "hgnc": "HGNC:10845",
        "name": "SEM1 26S proteasome subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sem1"
      },
      {
        "slug": "tbx3",
        "symbol": "TBX3",
        "hgnc": "HGNC:11602",
        "name": "T-box transcription factor 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbx3"
      },
      {
        "slug": "tp63",
        "symbol": "TP63",
        "hgnc": "HGNC:15979",
        "name": "tumor protein p63",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tp63"
      },
      {
        "slug": "wnt10b",
        "symbol": "WNT10B",
        "hgnc": "HGNC:12775",
        "name": "Wnt family member 10B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wnt10b"
      }
    ]
  }
}