{
  "url": "https://dantelabs.com/traits/split-hand",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "split-hand",
    "id": "HP:0001171",
    "name": "Split hand",
    "definition": "A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands.",
    "synonyms": [
      "Split-hand",
      "Ectrodactyly of the hand",
      "Hand ectrodactyly"
    ],
    "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": "abnormal-hand-morphology",
        "name": "Abnormal shape of hand",
        "url": "https://dantelabs.com/traits/abnormal-hand-morphology"
      },
      {
        "slug": "ectrodactyly",
        "name": "Cleft hand",
        "url": "https://dantelabs.com/traits/ectrodactyly"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "arsb",
        "symbol": "ARSB",
        "hgnc": "HGNC:714",
        "name": "arylsulfatase B",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arsb"
      },
      {
        "slug": "bscl2",
        "symbol": "BSCL2",
        "hgnc": "HGNC:15832",
        "name": "BSCL2 lipid droplet biogenesis associated, seipin",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/bscl2"
      },
      {
        "slug": "dlx5",
        "symbol": "DLX5",
        "hgnc": "HGNC:2918",
        "name": "distal-less homeobox 5",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/dlx5"
      },
      {
        "slug": "map3k20",
        "symbol": "MAP3K20",
        "hgnc": "HGNC:17797",
        "name": "mitogen-activated protein kinase kinase kinase 20",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/map3k20"
      },
      {
        "slug": "porcn",
        "symbol": "PORCN",
        "hgnc": "HGNC:17652",
        "name": "porcupine O-acyltransferase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/porcn"
      },
      {
        "slug": "bhlha9",
        "symbol": "BHLHA9",
        "hgnc": "HGNC:35126",
        "name": "basic helix-loop-helix family member a9",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bhlha9"
      },
      {
        "slug": "fgfr3",
        "symbol": "FGFR3",
        "hgnc": "HGNC:3690",
        "name": "fibroblast growth factor receptor 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgfr3"
      },
      {
        "slug": "tbx5",
        "symbol": "TBX5",
        "hgnc": "HGNC:11604",
        "name": "T-box transcription factor 5",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbx5"
      },
      {
        "slug": "tp63",
        "symbol": "TP63",
        "hgnc": "HGNC:15979",
        "name": "tumor protein p63",
        "frequency": "very-frequent",
        "diseases": 6,
        "url": "https://dantelabs.com/genes/tp63"
      },
      {
        "slug": "ahsg",
        "symbol": "AHSG",
        "hgnc": "HGNC:349",
        "name": "alpha 2-HS glycoprotein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ahsg"
      },
      {
        "slug": "arhgap31",
        "symbol": "ARHGAP31",
        "hgnc": "HGNC:29216",
        "name": "Rho GTPase activating protein 31",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arhgap31"
      },
      {
        "slug": "cplx1",
        "symbol": "CPLX1",
        "hgnc": "HGNC:2309",
        "name": "complexin 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cplx1"
      },
      {
        "slug": "ctbp1",
        "symbol": "CTBP1",
        "hgnc": "HGNC:2494",
        "name": "C-terminal binding protein 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ctbp1"
      },
      {
        "slug": "dlg5",
        "symbol": "DLG5",
        "hgnc": "HGNC:2904",
        "name": "discs large MAGUK scaffold protein 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dlg5"
      },
      {
        "slug": "dll4",
        "symbol": "DLL4",
        "hgnc": "HGNC:2910",
        "name": "delta like canonical Notch ligand 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dll4"
      },
      {
        "slug": "dock6",
        "symbol": "DOCK6",
        "hgnc": "HGNC:19189",
        "name": "dedicator of cytokinesis 6",
        "frequency": "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": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eogt"
      },
      {
        "slug": "fgfr1",
        "symbol": "FGFR1",
        "hgnc": "HGNC:3688",
        "name": "fibroblast growth factor receptor 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgfr1"
      },
      {
        "slug": "gdap1",
        "symbol": "GDAP1",
        "hgnc": "HGNC:15968",
        "name": "ganglioside induced differentiation associated protein 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/gdap1"
      },
      {
        "slug": "gli3",
        "symbol": "GLI3",
        "hgnc": "HGNC:4319",
        "name": "GLI family zinc finger 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gli3"
      },
      {
        "slug": "itgb6",
        "symbol": "ITGB6",
        "hgnc": "HGNC:6161",
        "name": "integrin subunit beta 6",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/itgb6"
      },
      {
        "slug": "letm1",
        "symbol": "LETM1",
        "hgnc": "HGNC:6556",
        "name": "leucine zipper and EF-hand containing transmembrane protein 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/letm1"
      },
      {
        "slug": "lss",
        "symbol": "LSS",
        "hgnc": "HGNC:6708",
        "name": "lanosterol synthase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lss"
      },
      {
        "slug": "mcm3ap",
        "symbol": "MCM3AP",
        "hgnc": "HGNC:6946",
        "name": "minichromosome maintenance complex component 3 associated protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mcm3ap"
      },
      {
        "slug": "nelfa",
        "symbol": "NELFA",
        "hgnc": "HGNC:12768",
        "name": "negative elongation factor complex member A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nelfa"
      },
      {
        "slug": "notch1",
        "symbol": "NOTCH1",
        "hgnc": "HGNC:7881",
        "name": "notch receptor 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/notch1"
      },
      {
        "slug": "nsd2",
        "symbol": "NSD2",
        "hgnc": "HGNC:12766",
        "name": "nuclear receptor binding SET domain protein 2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/nsd2"
      },
      {
        "slug": "pigg",
        "symbol": "PIGG",
        "hgnc": "HGNC:25985",
        "name": "phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pigg"
      },
      {
        "slug": "rbpj",
        "symbol": "RBPJ",
        "hgnc": "HGNC:5724",
        "name": "recombination signal binding protein for immunoglobulin kappa J region",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rbpj"
      },
      {
        "slug": "tctn3",
        "symbol": "TCTN3",
        "hgnc": "HGNC:24519",
        "name": "tectonic family member 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tctn3"
      },
      {
        "slug": "wnt7a",
        "symbol": "WNT7A",
        "hgnc": "HGNC:12786",
        "name": "Wnt family member 7A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wnt7a"
      },
      {
        "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": "cdh3",
        "symbol": "CDH3",
        "hgnc": "HGNC:1762",
        "name": "cadherin 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdh3"
      },
      {
        "slug": "ctsd",
        "symbol": "CTSD",
        "hgnc": "HGNC:2529",
        "name": "cathepsin D",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ctsd"
      },
      {
        "slug": "dhcr7",
        "symbol": "DHCR7",
        "hgnc": "HGNC:2860",
        "name": "7-dehydrocholesterol reductase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dhcr7"
      },
      {
        "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": "fgfrl1",
        "symbol": "FGFRL1",
        "hgnc": "HGNC:3693",
        "name": "fibroblast growth factor receptor like 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgfrl1"
      },
      {
        "slug": "hnrnpa1",
        "symbol": "HNRNPA1",
        "hgnc": "HGNC:5031",
        "name": "heterogeneous nuclear ribonucleoprotein A1",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/hnrnpa1"
      },
      {
        "slug": "irf6",
        "symbol": "IRF6",
        "hgnc": "HGNC:6121",
        "name": "interferon regulatory factor 6",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/irf6"
      },
      {
        "slug": "lef1",
        "symbol": "LEF1",
        "hgnc": "HGNC:6551",
        "name": "lymphoid enhancer binding factor 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lef1"
      },
      {
        "slug": "morc2",
        "symbol": "MORC2",
        "hgnc": "HGNC:23573",
        "name": "MORC family CW-type zinc finger 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/morc2"
      },
      {
        "slug": "ndrg1",
        "symbol": "NDRG1",
        "hgnc": "HGNC:7679",
        "name": "N-myc downstream regulated 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndrg1"
      },
      {
        "slug": "nxn",
        "symbol": "NXN",
        "hgnc": "HGNC:18008",
        "name": "nucleoredoxin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nxn"
      },
      {
        "slug": "pmp22",
        "symbol": "PMP22",
        "hgnc": "HGNC:9118",
        "name": "peripheral myelin protein 22",
        "frequency": "occasional",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/pmp22"
      },
      {
        "slug": "ror2",
        "symbol": "ROR2",
        "hgnc": "HGNC:10257",
        "name": "ROR family WNT receptor 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ror2"
      },
      {
        "slug": "sem1",
        "symbol": "SEM1",
        "hgnc": "HGNC:10845",
        "name": "SEM1 26S proteasome subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sem1"
      },
      {
        "slug": "svbp",
        "symbol": "SVBP",
        "hgnc": "HGNC:29204",
        "name": "small vasohibin binding protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/svbp"
      },
      {
        "slug": "wnt10b",
        "symbol": "WNT10B",
        "hgnc": "HGNC:12775",
        "name": "Wnt family member 10B",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/wnt10b"
      },
      {
        "slug": "hint1",
        "symbol": "HINT1",
        "hgnc": "HGNC:4912",
        "name": "histidine triad nucleotide binding protein 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hint1"
      },
      {
        "slug": "ctdp1",
        "symbol": "CTDP1",
        "hgnc": "HGNC:2498",
        "name": "CTD phosphatase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ctdp1"
      },
      {
        "slug": "egr2",
        "symbol": "EGR2",
        "hgnc": "HGNC:3239",
        "name": "early growth response 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/egr2"
      },
      {
        "slug": "gnptab",
        "symbol": "GNPTAB",
        "hgnc": "HGNC:29670",
        "name": "N-acetylglucosamine-1-phosphate transferase subunits alpha and beta",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gnptab"
      },
      {
        "slug": "hsd17b4",
        "symbol": "HSD17B4",
        "hgnc": "HGNC:5213",
        "name": "hydroxysteroid 17-beta dehydrogenase 4",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hsd17b4"
      },
      {
        "slug": "ids",
        "symbol": "IDS",
        "hgnc": "HGNC:5389",
        "name": "iduronate 2-sulfatase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ids"
      },
      {
        "slug": "jph1",
        "symbol": "JPH1",
        "hgnc": "HGNC:14201",
        "name": "junctophilin 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/jph1"
      },
      {
        "slug": "med12",
        "symbol": "MED12",
        "hgnc": "HGNC:11957",
        "name": "mediator complex subunit 12",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/med12"
      },
      {
        "slug": "mmp2",
        "symbol": "MMP2",
        "hgnc": "HGNC:7166",
        "name": "matrix metallopeptidase 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mmp2"
      },
      {
        "slug": "mpz",
        "symbol": "MPZ",
        "hgnc": "HGNC:7225",
        "name": "myelin protein zero",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/mpz"
      },
      {
        "slug": "nefl",
        "symbol": "NEFL",
        "hgnc": "HGNC:7739",
        "name": "neurofilament light chain",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nefl"
      },
      {
        "slug": "prx",
        "symbol": "PRX",
        "hgnc": "HGNC:13797",
        "name": "periaxin",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prx"
      },
      {
        "slug": "sbf2",
        "symbol": "SBF2",
        "hgnc": "HGNC:2135",
        "name": "SET binding factor 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sbf2"
      },
      {
        "slug": "slc52a2",
        "symbol": "SLC52A2",
        "hgnc": "HGNC:30224",
        "name": "solute carrier family 52 member 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc52a2"
      }
    ]
  }
}