{
  "url": "https://dantelabs.com/traits/rhizomelia",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "rhizomelia",
    "id": "HP:0008905",
    "name": "Disproportionately short upper portion of limb",
    "label": "Rhizomelia",
    "definition": "Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).",
    "synonyms": [
      "Rhizomelic limb shortening",
      "Rhizomelic short limbs",
      "Rhizomelic short stature",
      "Rhizomelic shortening",
      "Short stature, rhizomelic",
      "Symmetrical rhizomelic limb shortening"
    ],
    "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"
      },
      {
        "slug": "growth-abnormality",
        "name": "Growth abnormality",
        "url": "https://dantelabs.com/traits/growth-abnormality"
      }
    ],
    "broader": [
      {
        "slug": "disproportionate-short-limb-short-stature",
        "name": "Disproportionate short-limb short stature",
        "url": "https://dantelabs.com/traits/disproportionate-short-limb-short-stature"
      },
      {
        "slug": "limb-undergrowth",
        "name": "Limb undergrowth",
        "url": "https://dantelabs.com/traits/limb-undergrowth"
      }
    ],
    "narrower": [
      {
        "slug": "rhizomelic-arm-shortening",
        "name": "Rhizomelic arm shortening",
        "genes": 11,
        "url": "https://dantelabs.com/traits/rhizomelic-arm-shortening"
      },
      {
        "slug": "rhizomelic-leg-shortening",
        "name": "Rhizomelic leg shortening",
        "genes": 3,
        "url": "https://dantelabs.com/traits/rhizomelic-leg-shortening"
      },
      {
        "slug": "mesomelic-rhizomelic-limb-shortening",
        "name": "Mesomelic/rhizomelic limb shortening",
        "genes": 2,
        "url": "https://dantelabs.com/traits/mesomelic-rhizomelic-limb-shortening"
      }
    ],
    "genes": [
      {
        "slug": "acan",
        "symbol": "ACAN",
        "hgnc": "HGNC:319",
        "name": "aggrecan",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/acan"
      },
      {
        "slug": "cfap410",
        "symbol": "CFAP410",
        "hgnc": "HGNC:1260",
        "name": "cilia and flagella associated protein 410",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cfap410"
      },
      {
        "slug": "cilk1",
        "symbol": "CILK1",
        "hgnc": "HGNC:21219",
        "name": "ciliogenesis associated kinase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cilk1"
      },
      {
        "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": "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": "crtap",
        "symbol": "CRTAP",
        "hgnc": "HGNC:2379",
        "name": "cartilage associated protein",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/crtap"
      },
      {
        "slug": "dym",
        "symbol": "DYM",
        "hgnc": "HGNC:21317",
        "name": "dymeclin",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/dym"
      },
      {
        "slug": "fgfr3",
        "symbol": "FGFR3",
        "hgnc": "HGNC:3690",
        "name": "fibroblast growth factor receptor 3",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/fgfr3"
      },
      {
        "slug": "gnpat",
        "symbol": "GNPAT",
        "hgnc": "HGNC:4416",
        "name": "glyceronephosphate O-acyltransferase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gnpat"
      },
      {
        "slug": "gnpnat1",
        "symbol": "GNPNAT1",
        "hgnc": "HGNC:19980",
        "name": "glucosamine-phosphate N-acetyltransferase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gnpnat1"
      },
      {
        "slug": "gsc",
        "symbol": "GSC",
        "hgnc": "HGNC:4612",
        "name": "goosecoid homeobox",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gsc"
      },
      {
        "slug": "ift122",
        "symbol": "IFT122",
        "hgnc": "HGNC:13556",
        "name": "intraflagellar transport 122",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ift122"
      },
      {
        "slug": "ift140",
        "symbol": "IFT140",
        "hgnc": "HGNC:29077",
        "name": "intraflagellar transport 140",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ift140"
      },
      {
        "slug": "ift43",
        "symbol": "IFT43",
        "hgnc": "HGNC:29669",
        "name": "intraflagellar transport 43",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ift43"
      },
      {
        "slug": "lbr",
        "symbol": "LBR",
        "hgnc": "HGNC:6518",
        "name": "lamin B receptor",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/lbr"
      },
      {
        "slug": "mbtps2",
        "symbol": "MBTPS2",
        "hgnc": "HGNC:15455",
        "name": "membrane bound transcription factor peptidase, site 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mbtps2"
      },
      {
        "slug": "pkdcc",
        "symbol": "PKDCC",
        "hgnc": "HGNC:25123",
        "name": "protein kinase domain containing, cytoplasmic",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pkdcc"
      },
      {
        "slug": "poc1a",
        "symbol": "POC1A",
        "hgnc": "HGNC:24488",
        "name": "POC1 centriolar protein A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/poc1a"
      },
      {
        "slug": "prkg2",
        "symbol": "PRKG2",
        "hgnc": "HGNC:9416",
        "name": "protein kinase cGMP-dependent 2",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/prkg2"
      },
      {
        "slug": "ptbp1",
        "symbol": "PTBP1",
        "hgnc": "HGNC:9583",
        "name": "polypyrimidine tract binding protein 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ptbp1"
      },
      {
        "slug": "rmrp",
        "symbol": "RMRP",
        "hgnc": "HGNC:10031",
        "name": "RNA component of mitochondrial RNA processing endoribonuclease",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/rmrp"
      },
      {
        "slug": "serpinh1",
        "symbol": "SERPINH1",
        "hgnc": "HGNC:1546",
        "name": "serpin family H member 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/serpinh1"
      },
      {
        "slug": "sik3",
        "symbol": "SIK3",
        "hgnc": "HGNC:29165",
        "name": "SIK family kinase 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sik3"
      },
      {
        "slug": "tbc1d32",
        "symbol": "TBC1D32",
        "hgnc": "HGNC:21485",
        "name": "TBC1 domain family member 32",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbc1d32"
      },
      {
        "slug": "wdr19",
        "symbol": "WDR19",
        "hgnc": "HGNC:18340",
        "name": "WD repeat domain 19",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/wdr19"
      },
      {
        "slug": "wdr35",
        "symbol": "WDR35",
        "hgnc": "HGNC:29250",
        "name": "WD repeat domain 35",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/wdr35"
      },
      {
        "slug": "chst3",
        "symbol": "CHST3",
        "hgnc": "HGNC:1971",
        "name": "carbohydrate sulfotransferase 3",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/chst3"
      },
      {
        "slug": "col11a1",
        "symbol": "COL11A1",
        "hgnc": "HGNC:2186",
        "name": "collagen type XI alpha 1 chain",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/col11a1"
      },
      {
        "slug": "fzd2",
        "symbol": "FZD2",
        "hgnc": "HGNC:4040",
        "name": "frizzled class receptor 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fzd2"
      },
      {
        "slug": "gpc6",
        "symbol": "GPC6",
        "hgnc": "HGNC:4454",
        "name": "glypican 6",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/gpc6"
      },
      {
        "slug": "hdac6",
        "symbol": "HDAC6",
        "hgnc": "HGNC:14064",
        "name": "histone deacetylase 6",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/hdac6"
      },
      {
        "slug": "ift52",
        "symbol": "IFT52",
        "hgnc": "HGNC:15901",
        "name": "intraflagellar transport 52",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ift52"
      },
      {
        "slug": "pcyt1a",
        "symbol": "PCYT1A",
        "hgnc": "HGNC:8754",
        "name": "phosphate cytidylyltransferase 1A, choline",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pcyt1a"
      },
      {
        "slug": "pth1r",
        "symbol": "PTH1R",
        "hgnc": "HGNC:9608",
        "name": "parathyroid hormone 1 receptor",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pth1r"
      },
      {
        "slug": "arcn1",
        "symbol": "ARCN1",
        "hgnc": "HGNC:649",
        "name": "archain 1 coat protein complex I subunit delta",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arcn1"
      },
      {
        "slug": "cep57",
        "symbol": "CEP57",
        "hgnc": "HGNC:30794",
        "name": "centrosomal protein 57",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cep57"
      },
      {
        "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": "dhcr24",
        "symbol": "DHCR24",
        "hgnc": "HGNC:2859",
        "name": "24-dehydrocholesterol reductase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dhcr24"
      },
      {
        "slug": "ebp",
        "symbol": "EBP",
        "hgnc": "HGNC:3133",
        "name": "EBP cholestenol delta-isomerase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ebp"
      },
      {
        "slug": "fgfr1",
        "symbol": "FGFR1",
        "hgnc": "HGNC:3688",
        "name": "fibroblast growth factor receptor 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/fgfr1"
      },
      {
        "slug": "flnb",
        "symbol": "FLNB",
        "hgnc": "HGNC:3755",
        "name": "filamin B",
        "frequency": "frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/flnb"
      },
      {
        "slug": "gdf5",
        "symbol": "GDF5",
        "hgnc": "HGNC:4220",
        "name": "growth differentiation factor 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gdf5"
      },
      {
        "slug": "kynu",
        "symbol": "KYNU",
        "hgnc": "HGNC:6469",
        "name": "kynureninase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kynu"
      },
      {
        "slug": "mab21l2",
        "symbol": "MAB21L2",
        "hgnc": "HGNC:6758",
        "name": "mab-21 like 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mab21l2"
      },
      {
        "slug": "slc26a2",
        "symbol": "SLC26A2",
        "hgnc": "HGNC:10994",
        "name": "solute carrier family 26 member 2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/slc26a2"
      },
      {
        "slug": "tonsl",
        "symbol": "TONSL",
        "hgnc": "HGNC:7801",
        "name": "tonsoku like, DNA repair protein",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tonsl"
      },
      {
        "slug": "alg9",
        "symbol": "ALG9",
        "hgnc": "HGNC:15672",
        "name": "ALG9 alpha-1,2-mannosyltransferase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alg9"
      },
      {
        "slug": "b3gat3",
        "symbol": "B3GAT3",
        "hgnc": "HGNC:923",
        "name": "beta-1,3-glucuronyltransferase 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/b3gat3"
      },
      {
        "slug": "b3glct",
        "symbol": "B3GLCT",
        "hgnc": "HGNC:20207",
        "name": "beta 3-glucosyltransferase",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/b3glct"
      },
      {
        "slug": "clpb",
        "symbol": "CLPB",
        "hgnc": "HGNC:30664",
        "name": "ClpB family mitochondrial disaggregase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/clpb"
      },
      {
        "slug": "ctsk",
        "symbol": "CTSK",
        "hgnc": "HGNC:2536",
        "name": "cathepsin K",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ctsk"
      },
      {
        "slug": "dhcr7",
        "symbol": "DHCR7",
        "hgnc": "HGNC:2860",
        "name": "7-dehydrocholesterol reductase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dhcr7"
      },
      {
        "slug": "kmt2a",
        "symbol": "KMT2A",
        "hgnc": "HGNC:7132",
        "name": "lysine methyltransferase 2A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kmt2a"
      },
      {
        "slug": "agps",
        "symbol": "AGPS",
        "hgnc": "HGNC:327",
        "name": "alkylglycerone phosphate synthase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/agps"
      },
      {
        "slug": "alg12",
        "symbol": "ALG12",
        "hgnc": "HGNC:19358",
        "name": "ALG12 alpha-1,6-mannosyltransferase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alg12"
      },
      {
        "slug": "cep120",
        "symbol": "CEP120",
        "hgnc": "HGNC:26690",
        "name": "centrosomal protein 120",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cep120"
      },
      {
        "slug": "dvl1",
        "symbol": "DVL1",
        "hgnc": "HGNC:3084",
        "name": "dishevelled segment polarity protein 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dvl1"
      },
      {
        "slug": "gpx4",
        "symbol": "GPX4",
        "hgnc": "HGNC:4556",
        "name": "glutathione peroxidase 4",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gpx4"
      },
      {
        "slug": "ift80",
        "symbol": "IFT80",
        "hgnc": "HGNC:29262",
        "name": "intraflagellar transport 80",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ift80"
      },
      {
        "slug": "inppl1",
        "symbol": "INPPL1",
        "hgnc": "HGNC:6080",
        "name": "inositol polyphosphate phosphatase like 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/inppl1"
      },
      {
        "slug": "mmp13",
        "symbol": "MMP13",
        "hgnc": "HGNC:7159",
        "name": "matrix metallopeptidase 13",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mmp13"
      },
      {
        "slug": "mtor",
        "symbol": "MTOR",
        "hgnc": "HGNC:3942",
        "name": "mechanistic target of rapamycin kinase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mtor"
      },
      {
        "slug": "mysm1",
        "symbol": "MYSM1",
        "hgnc": "HGNC:29401",
        "name": "Myb like, SWIRM and MPN domains 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mysm1"
      },
      {
        "slug": "pex7",
        "symbol": "PEX7",
        "hgnc": "HGNC:8860",
        "name": "peroxisomal biogenesis factor 7",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex7"
      },
      {
        "slug": "tbx15",
        "symbol": "TBX15",
        "hgnc": "HGNC:11594",
        "name": "T-box transcription factor 15",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbx15"
      },
      {
        "slug": "wnt5a",
        "symbol": "WNT5A",
        "hgnc": "HGNC:12784",
        "name": "Wnt family member 5A",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wnt5a"
      }
    ]
  }
}