{
  "url": "https://dantelabs.com/traits/limb-undergrowth",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "limb-undergrowth",
    "id": "HP:0009826",
    "name": "Limb undergrowth",
    "definition": "Limb shortening because of underdevelopment of one or more bones of the extremities.",
    "synonyms": [
      "limb shortening",
      "Short limb",
      "Short limbs",
      "Hypoplasia involving bones of the extremities"
    ],
    "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-of-the-extremities",
        "name": "Absent/small extremities",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-extremities"
      }
    ],
    "narrower": [
      {
        "slug": "micromelia",
        "name": "Smaller or shorter than typical limbs",
        "genes": 95,
        "url": "https://dantelabs.com/traits/micromelia"
      },
      {
        "slug": "rhizomelia",
        "name": "Disproportionately short upper portion of limb",
        "genes": 66,
        "url": "https://dantelabs.com/traits/rhizomelia"
      },
      {
        "slug": "mesomelia",
        "name": "Disproportionately short middle portion of limb",
        "genes": 27,
        "url": "https://dantelabs.com/traits/mesomelia"
      },
      {
        "slug": "upper-limb-undergrowth",
        "name": "Upper limb undergrowth",
        "genes": 16,
        "url": "https://dantelabs.com/traits/upper-limb-undergrowth"
      },
      {
        "slug": "lower-limb-undergrowth",
        "name": "Lower limb undergrowth",
        "genes": 4,
        "url": "https://dantelabs.com/traits/lower-limb-undergrowth"
      },
      {
        "slug": "distal-shortening-of-limbs",
        "name": "Short outer part of limbs",
        "genes": 3,
        "url": "https://dantelabs.com/traits/distal-shortening-of-limbs"
      },
      {
        "slug": "hemiatrophy",
        "name": "Asymmetric limb shortening",
        "genes": 2,
        "url": "https://dantelabs.com/traits/hemiatrophy"
      }
    ],
    "genes": [
      {
        "slug": "adamts2",
        "symbol": "ADAMTS2",
        "hgnc": "HGNC:218",
        "name": "ADAM metallopeptidase with thrombospondin type 1 motif 2",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/adamts2"
      },
      {
        "slug": "b9d1",
        "symbol": "B9D1",
        "hgnc": "HGNC:24123",
        "name": "B9 domain containing 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/b9d1"
      },
      {
        "slug": "bmpr1b",
        "symbol": "BMPR1B",
        "hgnc": "HGNC:1077",
        "name": "bone morphogenetic protein receptor type 1B",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bmpr1b"
      },
      {
        "slug": "cilk1",
        "symbol": "CILK1",
        "hgnc": "HGNC:21219",
        "name": "ciliogenesis associated kinase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cilk1"
      },
      {
        "slug": "col1a1",
        "symbol": "COL1A1",
        "hgnc": "HGNC:2197",
        "name": "collagen type I alpha 1 chain",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col1a1"
      },
      {
        "slug": "col1a2",
        "symbol": "COL1A2",
        "hgnc": "HGNC:2198",
        "name": "collagen type I alpha 2 chain",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col1a2"
      },
      {
        "slug": "col2a1",
        "symbol": "COL2A1",
        "hgnc": "HGNC:2200",
        "name": "collagen type II alpha 1 chain",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col2a1"
      },
      {
        "slug": "ddrgk1",
        "symbol": "DDRGK1",
        "hgnc": "HGNC:16110",
        "name": "DDRGK domain containing 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ddrgk1"
      },
      {
        "slug": "eri1",
        "symbol": "ERI1",
        "hgnc": "HGNC:23994",
        "name": "exoribonuclease 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eri1"
      },
      {
        "slug": "flnb",
        "symbol": "FLNB",
        "hgnc": "HGNC:3755",
        "name": "filamin B",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/flnb"
      },
      {
        "slug": "fut8",
        "symbol": "FUT8",
        "hgnc": "HGNC:4019",
        "name": "fucosyltransferase 8",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fut8"
      },
      {
        "slug": "glb1",
        "symbol": "GLB1",
        "hgnc": "HGNC:4298",
        "name": "galactosidase beta 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/glb1"
      },
      {
        "slug": "ift52",
        "symbol": "IFT52",
        "hgnc": "HGNC:15901",
        "name": "intraflagellar transport 52",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ift52"
      },
      {
        "slug": "ihh",
        "symbol": "IHH",
        "hgnc": "HGNC:5956",
        "name": "Indian hedgehog signaling molecule",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ihh"
      },
      {
        "slug": "plcb3",
        "symbol": "PLCB3",
        "hgnc": "HGNC:9056",
        "name": "phospholipase C beta 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/plcb3"
      },
      {
        "slug": "ripk4",
        "symbol": "RIPK4",
        "hgnc": "HGNC:496",
        "name": "receptor interacting serine/threonine kinase 4",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ripk4"
      },
      {
        "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": "col10a1",
        "symbol": "COL10A1",
        "hgnc": "HGNC:2185",
        "name": "collagen type X alpha 1 chain",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col10a1"
      },
      {
        "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": "matn3",
        "symbol": "MATN3",
        "hgnc": "HGNC:6909",
        "name": "matrilin 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/matn3"
      },
      {
        "slug": "prkaca",
        "symbol": "PRKACA",
        "hgnc": "HGNC:9380",
        "name": "protein kinase cAMP-activated catalytic subunit alpha",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prkaca"
      },
      {
        "slug": "slc26a2",
        "symbol": "SLC26A2",
        "hgnc": "HGNC:10994",
        "name": "solute carrier family 26 member 2",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/slc26a2"
      },
      {
        "slug": "adamtsl2",
        "symbol": "ADAMTSL2",
        "hgnc": "HGNC:14631",
        "name": "ADAMTS like 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adamtsl2"
      },
      {
        "slug": "col11a2",
        "symbol": "COL11A2",
        "hgnc": "HGNC:2187",
        "name": "collagen type XI alpha 2 chain",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col11a2"
      },
      {
        "slug": "col9a1",
        "symbol": "COL9A1",
        "hgnc": "HGNC:2217",
        "name": "collagen type IX alpha 1 chain",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col9a1"
      },
      {
        "slug": "col9a2",
        "symbol": "COL9A2",
        "hgnc": "HGNC:2218",
        "name": "collagen type IX alpha 2 chain",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col9a2"
      },
      {
        "slug": "col9a3",
        "symbol": "COL9A3",
        "hgnc": "HGNC:2219",
        "name": "collagen type IX alpha 3 chain",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col9a3"
      },
      {
        "slug": "comp",
        "symbol": "COMP",
        "hgnc": "HGNC:2227",
        "name": "cartilage oligomeric matrix protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/comp"
      },
      {
        "slug": "dlk1",
        "symbol": "DLK1",
        "hgnc": "HGNC:2907",
        "name": "delta like non-canonical Notch ligand 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dlk1"
      },
      {
        "slug": "extl3",
        "symbol": "EXTL3",
        "hgnc": "HGNC:3518",
        "name": "exostosin like glycosyltransferase 3",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/extl3"
      },
      {
        "slug": "hspg2",
        "symbol": "HSPG2",
        "hgnc": "HGNC:5273",
        "name": "heparan sulfate proteoglycan 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hspg2"
      },
      {
        "slug": "lbr",
        "symbol": "LBR",
        "hgnc": "HGNC:6518",
        "name": "lamin B receptor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lbr"
      },
      {
        "slug": "meg3",
        "symbol": "MEG3",
        "hgnc": "HGNC:14575",
        "name": "maternally expressed 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/meg3"
      },
      {
        "slug": "nin",
        "symbol": "NIN",
        "hgnc": "HGNC:14906",
        "name": "ninein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nin"
      },
      {
        "slug": "pigy",
        "symbol": "PIGY",
        "hgnc": "HGNC:28213",
        "name": "phosphatidylinositol glycan anchor biosynthesis class Y",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pigy"
      },
      {
        "slug": "rtl1",
        "symbol": "RTL1",
        "hgnc": "HGNC:14665",
        "name": "retrotransposon Gag like 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rtl1"
      },
      {
        "slug": "tbck",
        "symbol": "TBCK",
        "hgnc": "HGNC:28261",
        "name": "TBC1 domain containing kinase",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tbck"
      },
      {
        "slug": "tonsl",
        "symbol": "TONSL",
        "hgnc": "HGNC:7801",
        "name": "tonsoku like, DNA repair protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tonsl"
      },
      {
        "slug": "acp5",
        "symbol": "ACP5",
        "hgnc": "HGNC:124",
        "name": "acid phosphatase 5, tartrate resistant",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acp5"
      },
      {
        "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": "cltcl1",
        "symbol": "CLTCL1",
        "hgnc": "HGNC:2093",
        "name": "clathrin heavy chain like 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cltcl1"
      },
      {
        "slug": "dpm1",
        "symbol": "DPM1",
        "hgnc": "HGNC:3005",
        "name": "dolichyl-phosphate mannosyltransferase subunit 1, catalytic",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dpm1"
      },
      {
        "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": "gad1",
        "symbol": "GAD1",
        "hgnc": "HGNC:4092",
        "name": "glutamate decarboxylase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gad1"
      },
      {
        "slug": "lonp1",
        "symbol": "LONP1",
        "hgnc": "HGNC:9479",
        "name": "lon peptidase 1, mitochondrial",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lonp1"
      },
      {
        "slug": "nek1",
        "symbol": "NEK1",
        "hgnc": "HGNC:7744",
        "name": "NIMA related kinase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nek1"
      },
      {
        "slug": "pdha1",
        "symbol": "PDHA1",
        "hgnc": "HGNC:8806",
        "name": "pyruvate dehydrogenase E1 subunit alpha 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdha1"
      },
      {
        "slug": "prkacb",
        "symbol": "PRKACB",
        "hgnc": "HGNC:9381",
        "name": "protein kinase cAMP-activated catalytic subunit beta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prkacb"
      },
      {
        "slug": "slc35c1",
        "symbol": "SLC35C1",
        "hgnc": "HGNC:20197",
        "name": "solute carrier family 35 member C1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc35c1"
      },
      {
        "slug": "slc39a8",
        "symbol": "SLC39A8",
        "hgnc": "HGNC:20862",
        "name": "solute carrier family 39 member 8",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc39a8"
      },
      {
        "slug": "fras1",
        "symbol": "FRAS1",
        "hgnc": "HGNC:19185",
        "name": "Fraser extracellular matrix complex subunit 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fras1"
      },
      {
        "slug": "frem2",
        "symbol": "FREM2",
        "hgnc": "HGNC:25396",
        "name": "FRAS1 related extracellular matrix 2",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/frem2"
      },
      {
        "slug": "grip1",
        "symbol": "GRIP1",
        "hgnc": "HGNC:18708",
        "name": "glutamate receptor interacting protein 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/grip1"
      },
      {
        "slug": "cd96",
        "symbol": "CD96",
        "hgnc": "HGNC:16892",
        "name": "CD96 molecule",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cd96"
      },
      {
        "slug": "fgfr1",
        "symbol": "FGFR1",
        "hgnc": "HGNC:3688",
        "name": "fibroblast growth factor receptor 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgfr1"
      },
      {
        "slug": "ghr",
        "symbol": "GHR",
        "hgnc": "HGNC:4263",
        "name": "growth hormone receptor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ghr"
      },
      {
        "slug": "gnas",
        "symbol": "GNAS",
        "hgnc": "HGNC:4392",
        "name": "GNAS complex locus",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gnas"
      },
      {
        "slug": "ltbp3",
        "symbol": "LTBP3",
        "hgnc": "HGNC:6716",
        "name": "latent transforming growth factor beta binding protein 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ltbp3"
      },
      {
        "slug": "phgdh",
        "symbol": "PHGDH",
        "hgnc": "HGNC:8923",
        "name": "phosphoglycerate dehydrogenase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/phgdh"
      },
      {
        "slug": "rnu4atac",
        "symbol": "RNU4ATAC",
        "hgnc": "HGNC:34016",
        "name": "RNA, U4atac small nuclear",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu4atac"
      },
      {
        "slug": "tapt1",
        "symbol": "TAPT1",
        "hgnc": "HGNC:26887",
        "name": "transmembrane anterior posterior transformation 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tapt1"
      },
      {
        "slug": "xrcc4",
        "symbol": "XRCC4",
        "hgnc": "HGNC:12831",
        "name": "X-ray repair cross complementing 4",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/xrcc4"
      }
    ]
  }
}