{
  "url": "https://dantelabs.com/traits/tibial-bowing",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "tibial-bowing",
    "id": "HP:0002982",
    "name": "Bowed shankbone",
    "label": "Tibial bowing",
    "definition": "A bending or abnormal curvature of the tibia.",
    "synonyms": [
      "Bowed shinbone",
      "Bowed tibia",
      "Bowing of the tibia"
    ],
    "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-tibia-morphology",
        "name": "Abnormality of the shankbone",
        "url": "https://dantelabs.com/traits/abnormal-tibia-morphology"
      },
      {
        "slug": "bowing-of-the-legs",
        "name": "Bowed legs",
        "url": "https://dantelabs.com/traits/bowing-of-the-legs"
      }
    ],
    "narrower": [
      {
        "slug": "anterior-tibial-bowing",
        "name": "Anterior tibial bowing",
        "genes": 2,
        "url": "https://dantelabs.com/traits/anterior-tibial-bowing"
      },
      {
        "slug": "distal-tibial-bowing",
        "name": "Distal tibial bowing",
        "genes": 1,
        "url": "https://dantelabs.com/traits/distal-tibial-bowing"
      }
    ],
    "genes": [
      {
        "slug": "col2a1",
        "symbol": "COL2A1",
        "hgnc": "HGNC:2200",
        "name": "collagen type II alpha 1 chain",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/col2a1"
      },
      {
        "slug": "flna",
        "symbol": "FLNA",
        "hgnc": "HGNC:3754",
        "name": "filamin A",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/flna"
      },
      {
        "slug": "phex",
        "symbol": "PHEX",
        "hgnc": "HGNC:8918",
        "name": "phosphate regulating endopeptidase X-linked",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/phex"
      },
      {
        "slug": "serpinh1",
        "symbol": "SERPINH1",
        "hgnc": "HGNC:1546",
        "name": "serpin family H member 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/serpinh1"
      },
      {
        "slug": "slc13a1",
        "symbol": "SLC13A1",
        "hgnc": "HGNC:10916",
        "name": "solute carrier family 13 member 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc13a1"
      },
      {
        "slug": "cyp27b1",
        "symbol": "CYP27B1",
        "hgnc": "HGNC:2606",
        "name": "cytochrome P450 family 27 subfamily B member 1",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cyp27b1"
      },
      {
        "slug": "cyp2r1",
        "symbol": "CYP2R1",
        "hgnc": "HGNC:20580",
        "name": "cytochrome P450 family 2 subfamily R member 1",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cyp2r1"
      },
      {
        "slug": "rmrp",
        "symbol": "RMRP",
        "hgnc": "HGNC:10031",
        "name": "RNA component of mitochondrial RNA processing endoribonuclease",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rmrp"
      },
      {
        "slug": "shox",
        "symbol": "SHOX",
        "hgnc": "HGNC:10853",
        "name": "SHOX homeobox",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/shox"
      },
      {
        "slug": "sox9",
        "symbol": "SOX9",
        "hgnc": "HGNC:11204",
        "name": "SRY-box transcription factor 9",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/sox9"
      },
      {
        "slug": "cilk1",
        "symbol": "CILK1",
        "hgnc": "HGNC:21219",
        "name": "ciliogenesis associated kinase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cilk1"
      },
      {
        "slug": "dmp1",
        "symbol": "DMP1",
        "hgnc": "HGNC:2932",
        "name": "dentin matrix acidic phosphoprotein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dmp1"
      },
      {
        "slug": "enpp1",
        "symbol": "ENPP1",
        "hgnc": "HGNC:3356",
        "name": "ectonucleotide pyrophosphatase/phosphodiesterase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/enpp1"
      },
      {
        "slug": "fgfr3",
        "symbol": "FGFR3",
        "hgnc": "HGNC:3690",
        "name": "fibroblast growth factor receptor 3",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/fgfr3"
      },
      {
        "slug": "mmp13",
        "symbol": "MMP13",
        "hgnc": "HGNC:7159",
        "name": "matrix metallopeptidase 13",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/mmp13"
      },
      {
        "slug": "smoc1",
        "symbol": "SMOC1",
        "hgnc": "HGNC:20318",
        "name": "SPARC related modular calcium binding 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/smoc1"
      },
      {
        "slug": "cltcl1",
        "symbol": "CLTCL1",
        "hgnc": "HGNC:2093",
        "name": "clathrin heavy chain like 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cltcl1"
      },
      {
        "slug": "col11a2",
        "symbol": "COL11A2",
        "hgnc": "HGNC:2187",
        "name": "collagen type XI alpha 2 chain",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col11a2"
      },
      {
        "slug": "cplane1",
        "symbol": "CPLANE1",
        "hgnc": "HGNC:25801",
        "name": "ciliogenesis and planar polarity effector complex subunit 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cplane1"
      },
      {
        "slug": "dlk1",
        "symbol": "DLK1",
        "hgnc": "HGNC:2907",
        "name": "delta like non-canonical Notch ligand 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dlk1"
      },
      {
        "slug": "dym",
        "symbol": "DYM",
        "hgnc": "HGNC:21317",
        "name": "dymeclin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dym"
      },
      {
        "slug": "fibp",
        "symbol": "FIBP",
        "hgnc": "HGNC:3705",
        "name": "FGF1 intracellular binding protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fibp"
      },
      {
        "slug": "fn1",
        "symbol": "FN1",
        "hgnc": "HGNC:3778",
        "name": "fibronectin 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fn1"
      },
      {
        "slug": "lrp5",
        "symbol": "LRP5",
        "hgnc": "HGNC:6697",
        "name": "LDL receptor related protein 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lrp5"
      },
      {
        "slug": "meg3",
        "symbol": "MEG3",
        "hgnc": "HGNC:14575",
        "name": "maternally expressed 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/meg3"
      },
      {
        "slug": "pdgfrb",
        "symbol": "PDGFRB",
        "hgnc": "HGNC:8804",
        "name": "platelet derived growth factor receptor beta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdgfrb"
      },
      {
        "slug": "rtl1",
        "symbol": "RTL1",
        "hgnc": "HGNC:14665",
        "name": "retrotransposon Gag like 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rtl1"
      },
      {
        "slug": "satb2",
        "symbol": "SATB2",
        "hgnc": "HGNC:21637",
        "name": "SATB homeobox 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/satb2"
      },
      {
        "slug": "setbp1",
        "symbol": "SETBP1",
        "hgnc": "HGNC:15573",
        "name": "SET binding protein 1",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/setbp1"
      },
      {
        "slug": "ccn2",
        "symbol": "CCN2",
        "hgnc": "HGNC:2500",
        "name": "cellular communication network factor 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ccn2"
      },
      {
        "slug": "chst3",
        "symbol": "CHST3",
        "hgnc": "HGNC:1971",
        "name": "carbohydrate sulfotransferase 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chst3"
      },
      {
        "slug": "clcn5",
        "symbol": "CLCN5",
        "hgnc": "HGNC:2023",
        "name": "Cl-/H+ antiporter 5",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/clcn5"
      },
      {
        "slug": "col1a1",
        "symbol": "COL1A1",
        "hgnc": "HGNC:2197",
        "name": "collagen type I alpha 1 chain",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/col1a1"
      },
      {
        "slug": "col1a2",
        "symbol": "COL1A2",
        "hgnc": "HGNC:2198",
        "name": "collagen type I alpha 2 chain",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/col1a2"
      },
      {
        "slug": "flnb",
        "symbol": "FLNB",
        "hgnc": "HGNC:3755",
        "name": "filamin B",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/flnb"
      },
      {
        "slug": "gorab",
        "symbol": "GORAB",
        "hgnc": "HGNC:25676",
        "name": "golgin, RAB6 interacting",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gorab"
      },
      {
        "slug": "lifr",
        "symbol": "LIFR",
        "hgnc": "HGNC:6597",
        "name": "LIF receptor subunit alpha",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lifr"
      },
      {
        "slug": "p3h1",
        "symbol": "P3H1",
        "hgnc": "HGNC:19316",
        "name": "prolyl 3-hydroxylase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/p3h1"
      },
      {
        "slug": "pcnt",
        "symbol": "PCNT",
        "hgnc": "HGNC:16068",
        "name": "pericentrin",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pcnt"
      },
      {
        "slug": "pcyt1a",
        "symbol": "PCYT1A",
        "hgnc": "HGNC:8754",
        "name": "phosphate cytidylyltransferase 1A, choline",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pcyt1a"
      },
      {
        "slug": "slc34a3",
        "symbol": "SLC34A3",
        "hgnc": "HGNC:20305",
        "name": "solute carrier family 34 member 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc34a3"
      },
      {
        "slug": "vdr",
        "symbol": "VDR",
        "hgnc": "HGNC:12679",
        "name": "vitamin D receptor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vdr"
      }
    ]
  }
}