{
  "url": "https://dantelabs.com/traits/short-long-bone",
  "trait": {
    "bundleId": "2026.10.18-e609d43e",
    "release": "2026-09-01",
    "slug": "short-long-bone",
    "id": "HP:0003026",
    "name": "Short long bone",
    "definition": "One or more abnormally short long bone.",
    "synonyms": [
      "Long bone shortening",
      "Short tubular bones",
      "shortened long 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-long-bone-morphology",
        "name": "Abnormal shape of long bone",
        "url": "https://dantelabs.com/traits/abnormal-long-bone-morphology"
      }
    ],
    "narrower": [
      {
        "slug": "short-metacarpal",
        "name": "Shortened long bone of hand",
        "genes": 94,
        "url": "https://dantelabs.com/traits/short-metacarpal"
      },
      {
        "slug": "short-metatarsal",
        "name": "Short long bone of foot",
        "genes": 44,
        "url": "https://dantelabs.com/traits/short-metatarsal"
      },
      {
        "slug": "short-humerus",
        "name": "Short humerus",
        "genes": 36,
        "url": "https://dantelabs.com/traits/short-humerus"
      },
      {
        "slug": "short-femur",
        "name": "Short thighbone",
        "genes": 33,
        "url": "https://dantelabs.com/traits/short-femur"
      },
      {
        "slug": "short-tibia",
        "name": "Short shinbone",
        "genes": 27,
        "url": "https://dantelabs.com/traits/short-tibia"
      },
      {
        "slug": "fibular-hypoplasia",
        "name": "Short calf bone",
        "genes": 23,
        "url": "https://dantelabs.com/traits/fibular-hypoplasia"
      },
      {
        "slug": "forearm-undergrowth",
        "name": "Forearm undergrowth",
        "genes": 5,
        "url": "https://dantelabs.com/traits/forearm-undergrowth"
      },
      {
        "slug": "short-tubular-bones-of-the-hand",
        "name": "Short tubular bones of the hand",
        "genes": 4,
        "url": "https://dantelabs.com/traits/short-tubular-bones-of-the-hand"
      }
    ],
    "genes": [
      {
        "slug": "adamtsl2",
        "symbol": "ADAMTSL2",
        "hgnc": "HGNC:14631",
        "name": "ADAMTS like 2",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/adamtsl2"
      },
      {
        "slug": "alg9",
        "symbol": "ALG9",
        "hgnc": "HGNC:15672",
        "name": "ALG9 alpha-1,2-mannosyltransferase",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/alg9"
      },
      {
        "slug": "c1galt1c1",
        "symbol": "C1GALT1C1",
        "hgnc": "HGNC:24338",
        "name": "C1GALT1 specific chaperone 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/c1galt1c1"
      },
      {
        "slug": "cep120",
        "symbol": "CEP120",
        "hgnc": "HGNC:26690",
        "name": "centrosomal protein 120",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cep120"
      },
      {
        "slug": "col11a2",
        "symbol": "COL11A2",
        "hgnc": "HGNC:2187",
        "name": "collagen type XI alpha 2 chain",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/col11a2"
      },
      {
        "slug": "col2a1",
        "symbol": "COL2A1",
        "hgnc": "HGNC:2200",
        "name": "collagen type II alpha 1 chain",
        "frequency": "obligate",
        "diseases": 9,
        "url": "https://dantelabs.com/genes/col2a1"
      },
      {
        "slug": "creb3l1",
        "symbol": "CREB3L1",
        "hgnc": "HGNC:18856",
        "name": "cAMP responsive element binding protein 3 like 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/creb3l1"
      },
      {
        "slug": "ddr2",
        "symbol": "DDR2",
        "hgnc": "HGNC:2731",
        "name": "discoidin domain receptor tyrosine kinase 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ddr2"
      },
      {
        "slug": "dync2li1",
        "symbol": "DYNC2LI1",
        "hgnc": "HGNC:24595",
        "name": "dynein cytoplasmic 2 light intermediate chain 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dync2li1"
      },
      {
        "slug": "fgfr3",
        "symbol": "FGFR3",
        "hgnc": "HGNC:3690",
        "name": "fibroblast growth factor receptor 3",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/fgfr3"
      },
      {
        "slug": "hspg2",
        "symbol": "HSPG2",
        "hgnc": "HGNC:5273",
        "name": "heparan sulfate proteoglycan 2",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/hspg2"
      },
      {
        "slug": "iars2",
        "symbol": "IARS2",
        "hgnc": "HGNC:29685",
        "name": "isoleucyl-tRNA synthetase 2, mitochondrial",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/iars2"
      },
      {
        "slug": "inppl1",
        "symbol": "INPPL1",
        "hgnc": "HGNC:6080",
        "name": "inositol polyphosphate phosphatase like 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/inppl1"
      },
      {
        "slug": "kiaa0753",
        "symbol": "KIAA0753",
        "hgnc": "HGNC:29110",
        "name": "KIAA0753",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kiaa0753"
      },
      {
        "slug": "lbr",
        "symbol": "LBR",
        "hgnc": "HGNC:6518",
        "name": "lamin B receptor",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/lbr"
      },
      {
        "slug": "nek9",
        "symbol": "NEK9",
        "hgnc": "HGNC:18591",
        "name": "NIMA related kinase 9",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nek9"
      },
      {
        "slug": "pam16",
        "symbol": "PAM16",
        "hgnc": "HGNC:29679",
        "name": "presequence translocase associated motor 16",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pam16"
      },
      {
        "slug": "pcyt1a",
        "symbol": "PCYT1A",
        "hgnc": "HGNC:8754",
        "name": "phosphate cytidylyltransferase 1A, choline",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pcyt1a"
      },
      {
        "slug": "plcb3",
        "symbol": "PLCB3",
        "hgnc": "HGNC:9056",
        "name": "phospholipase C beta 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/plcb3"
      },
      {
        "slug": "ptbp1",
        "symbol": "PTBP1",
        "hgnc": "HGNC:9583",
        "name": "polypyrimidine tract binding protein 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ptbp1"
      },
      {
        "slug": "rpl13",
        "symbol": "RPL13",
        "hgnc": "HGNC:10303",
        "name": "ribosomal protein L13",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rpl13"
      },
      {
        "slug": "slc35d1",
        "symbol": "SLC35D1",
        "hgnc": "HGNC:20800",
        "name": "solute carrier family 35 member D1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc35d1"
      },
      {
        "slug": "smad4",
        "symbol": "SMAD4",
        "hgnc": "HGNC:6770",
        "name": "SMAD family member 4",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smad4"
      },
      {
        "slug": "tmem67",
        "symbol": "TMEM67",
        "hgnc": "HGNC:28396",
        "name": "transmembrane protein 67",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem67"
      },
      {
        "slug": "ttc21b",
        "symbol": "TTC21B",
        "hgnc": "HGNC:25660",
        "name": "tetratricopeptide repeat domain 21B",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ttc21b"
      },
      {
        "slug": "xylt1",
        "symbol": "XYLT1",
        "hgnc": "HGNC:15516",
        "name": "xylosyltransferase 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/xylt1"
      },
      {
        "slug": "dvl1",
        "symbol": "DVL1",
        "hgnc": "HGNC:3084",
        "name": "dishevelled segment polarity protein 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dvl1"
      },
      {
        "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": "wnt5a",
        "symbol": "WNT5A",
        "hgnc": "HGNC:12784",
        "name": "Wnt family member 5A",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wnt5a"
      },
      {
        "slug": "cog1",
        "symbol": "COG1",
        "hgnc": "HGNC:6545",
        "name": "component of oligomeric golgi complex 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cog1"
      },
      {
        "slug": "col10a1",
        "symbol": "COL10A1",
        "hgnc": "HGNC:2185",
        "name": "collagen type X alpha 1 chain",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col10a1"
      },
      {
        "slug": "comp",
        "symbol": "COMP",
        "hgnc": "HGNC:2227",
        "name": "cartilage oligomeric matrix protein",
        "frequency": "frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/comp"
      },
      {
        "slug": "ddrgk1",
        "symbol": "DDRGK1",
        "hgnc": "HGNC:16110",
        "name": "DDRGK domain containing 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ddrgk1"
      },
      {
        "slug": "dym",
        "symbol": "DYM",
        "hgnc": "HGNC:21317",
        "name": "dymeclin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dym"
      },
      {
        "slug": "fbn1",
        "symbol": "FBN1",
        "hgnc": "HGNC:3603",
        "name": "fibrillin 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/fbn1"
      },
      {
        "slug": "fn1",
        "symbol": "FN1",
        "hgnc": "HGNC:3778",
        "name": "fibronectin 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fn1"
      },
      {
        "slug": "ltbp3",
        "symbol": "LTBP3",
        "hgnc": "HGNC:6716",
        "name": "latent transforming growth factor beta binding protein 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ltbp3"
      },
      {
        "slug": "porcn",
        "symbol": "PORCN",
        "hgnc": "HGNC:17652",
        "name": "porcupine O-acyltransferase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/porcn"
      },
      {
        "slug": "rspry1",
        "symbol": "RSPRY1",
        "hgnc": "HGNC:29420",
        "name": "ring finger and SPRY domain containing 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rspry1"
      },
      {
        "slug": "scube3",
        "symbol": "SCUBE3",
        "hgnc": "HGNC:13655",
        "name": "signal peptide, CUB domain and EGF like domain containing 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scube3"
      },
      {
        "slug": "slc35b2",
        "symbol": "SLC35B2",
        "hgnc": "HGNC:16872",
        "name": "solute carrier family 35 member B2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc35b2"
      },
      {
        "slug": "smoc1",
        "symbol": "SMOC1",
        "hgnc": "HGNC:20318",
        "name": "SPARC related modular calcium binding 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smoc1"
      },
      {
        "slug": "zic3",
        "symbol": "ZIC3",
        "hgnc": "HGNC:12874",
        "name": "Zic family zinc finger 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zic3"
      },
      {
        "slug": "alg12",
        "symbol": "ALG12",
        "hgnc": "HGNC:19358",
        "name": "ALG12 alpha-1,6-mannosyltransferase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alg12"
      },
      {
        "slug": "bpnt2",
        "symbol": "BPNT2",
        "hgnc": "HGNC:26019",
        "name": "3'(2'), 5'-bisphosphate nucleotidase 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bpnt2"
      },
      {
        "slug": "ext1",
        "symbol": "EXT1",
        "hgnc": "HGNC:3512",
        "name": "exostosin glycosyltransferase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ext1"
      },
      {
        "slug": "ext2",
        "symbol": "EXT2",
        "hgnc": "HGNC:3513",
        "name": "exostosin glycosyltransferase 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ext2"
      },
      {
        "slug": "flnb",
        "symbol": "FLNB",
        "hgnc": "HGNC:3755",
        "name": "filamin B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/flnb"
      },
      {
        "slug": "glb1",
        "symbol": "GLB1",
        "hgnc": "HGNC:4298",
        "name": "galactosidase beta 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/glb1"
      },
      {
        "slug": "il6st",
        "symbol": "IL6ST",
        "hgnc": "HGNC:6021",
        "name": "interleukin 6 cytokine family signal transducer",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/il6st"
      },
      {
        "slug": "tbc1d32",
        "symbol": "TBC1D32",
        "hgnc": "HGNC:21485",
        "name": "TBC1 domain family member 32",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbc1d32"
      },
      {
        "slug": "tonsl",
        "symbol": "TONSL",
        "hgnc": "HGNC:7801",
        "name": "tonsoku like, DNA repair protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tonsl"
      },
      {
        "slug": "trpv6",
        "symbol": "TRPV6",
        "hgnc": "HGNC:14006",
        "name": "transient receptor potential cation channel subfamily V member 6",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trpv6"
      },
      {
        "slug": "b3galt6",
        "symbol": "B3GALT6",
        "hgnc": "HGNC:17978",
        "name": "beta-1,3-galactosyltransferase 6",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/b3galt6"
      },
      {
        "slug": "bgn",
        "symbol": "BGN",
        "hgnc": "HGNC:1044",
        "name": "biglycan",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bgn"
      },
      {
        "slug": "col11a1",
        "symbol": "COL11A1",
        "hgnc": "HGNC:2186",
        "name": "collagen type XI alpha 1 chain",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col11a1"
      },
      {
        "slug": "dync2h1",
        "symbol": "DYNC2H1",
        "hgnc": "HGNC:2962",
        "name": "dynein cytoplasmic 2 heavy chain 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dync2h1"
      },
      {
        "slug": "dync2i1",
        "symbol": "DYNC2I1",
        "hgnc": "HGNC:21862",
        "name": "dynein 2 intermediate chain 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dync2i1"
      },
      {
        "slug": "dync2i2",
        "symbol": "DYNC2I2",
        "hgnc": "HGNC:28296",
        "name": "dynein 2 intermediate chain 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dync2i2"
      },
      {
        "slug": "evc",
        "symbol": "EVC",
        "hgnc": "HGNC:3497",
        "name": "EvC ciliary complex subunit 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/evc"
      },
      {
        "slug": "evc2",
        "symbol": "EVC2",
        "hgnc": "HGNC:19747",
        "name": "EvC ciliary complex subunit 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/evc2"
      },
      {
        "slug": "ghr",
        "symbol": "GHR",
        "hgnc": "HGNC:4263",
        "name": "growth hormone receptor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ghr"
      },
      {
        "slug": "gnptab",
        "symbol": "GNPTAB",
        "hgnc": "HGNC:29670",
        "name": "N-acetylglucosamine-1-phosphate transferase subunits alpha and beta",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/gnptab"
      },
      {
        "slug": "gpx4",
        "symbol": "GPX4",
        "hgnc": "HGNC:4556",
        "name": "glutathione peroxidase 4",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gpx4"
      },
      {
        "slug": "ift172",
        "symbol": "IFT172",
        "hgnc": "HGNC:30391",
        "name": "intraflagellar transport 172",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ift172"
      },
      {
        "slug": "intu",
        "symbol": "INTU",
        "hgnc": "HGNC:29239",
        "name": "inturned planar cell polarity protein",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/intu"
      },
      {
        "slug": "lifr",
        "symbol": "LIFR",
        "hgnc": "HGNC:6597",
        "name": "LIF receptor subunit alpha",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lifr"
      },
      {
        "slug": "matn3",
        "symbol": "MATN3",
        "hgnc": "HGNC:6909",
        "name": "matrilin 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/matn3"
      },
      {
        "slug": "nadsyn1",
        "symbol": "NADSYN1",
        "hgnc": "HGNC:29832",
        "name": "NAD synthetase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nadsyn1"
      },
      {
        "slug": "nek1",
        "symbol": "NEK1",
        "hgnc": "HGNC:7744",
        "name": "NIMA related kinase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nek1"
      },
      {
        "slug": "pth1r",
        "symbol": "PTH1R",
        "hgnc": "HGNC:9608",
        "name": "parathyroid hormone 1 receptor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pth1r"
      },
      {
        "slug": "rmrp",
        "symbol": "RMRP",
        "hgnc": "HGNC:10031",
        "name": "RNA component of mitochondrial RNA processing endoribonuclease",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rmrp"
      },
      {
        "slug": "ror2",
        "symbol": "ROR2",
        "hgnc": "HGNC:10257",
        "name": "ROR family WNT receptor 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ror2"
      },
      {
        "slug": "sh3pxd2b",
        "symbol": "SH3PXD2B",
        "hgnc": "HGNC:29242",
        "name": "SH3 and PX domains 2B",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sh3pxd2b"
      },
      {
        "slug": "slc10a7",
        "symbol": "SLC10A7",
        "hgnc": "HGNC:23088",
        "name": "solute carrier family 10 member 7",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc10a7"
      },
      {
        "slug": "slc26a2",
        "symbol": "SLC26A2",
        "hgnc": "HGNC:10994",
        "name": "solute carrier family 26 member 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc26a2"
      },
      {
        "slug": "trip11",
        "symbol": "TRIP11",
        "hgnc": "HGNC:12305",
        "name": "thyroid hormone receptor interactor 11",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trip11"
      },
      {
        "slug": "wdr35",
        "symbol": "WDR35",
        "hgnc": "HGNC:29250",
        "name": "WD repeat domain 35",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wdr35"
      }
    ]
  }
}