{
  "url": "https://dantelabs.com/traits/limb-joint-contracture",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "limb-joint-contracture",
    "id": "HP:0003121",
    "name": "Limb contractures",
    "label": "Limb joint contracture",
    "definition": "A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs.",
    "synonyms": [],
    "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": "joint-contracture",
        "name": "Joint contracture",
        "url": "https://dantelabs.com/traits/joint-contracture"
      }
    ],
    "narrower": [
      {
        "slug": "lower-limb-joint-contracture",
        "name": "Lower-limb joint contracture",
        "genes": 24,
        "url": "https://dantelabs.com/traits/lower-limb-joint-contracture"
      },
      {
        "slug": "upper-limb-joint-contracture",
        "name": "Upper-limb joint contracture",
        "genes": 14,
        "url": "https://dantelabs.com/traits/upper-limb-joint-contracture"
      }
    ],
    "genes": [
      {
        "slug": "camlg",
        "symbol": "CAMLG",
        "hgnc": "HGNC:1471",
        "name": "calcium modulating ligand",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/camlg"
      },
      {
        "slug": "elfn1",
        "symbol": "ELFN1",
        "hgnc": "HGNC:33154",
        "name": "extracellular leucine rich repeat and fibronectin type III domain containing 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/elfn1"
      },
      {
        "slug": "grin1",
        "symbol": "GRIN1",
        "hgnc": "HGNC:4584",
        "name": "glutamate ionotropic receptor NMDA type subunit 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/grin1"
      },
      {
        "slug": "med11",
        "symbol": "MED11",
        "hgnc": "HGNC:32687",
        "name": "mediator complex subunit 11",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/med11"
      },
      {
        "slug": "piga",
        "symbol": "PIGA",
        "hgnc": "HGNC:8957",
        "name": "phosphatidylinositol glycan anchor biosynthesis class A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/piga"
      },
      {
        "slug": "zmpste24",
        "symbol": "ZMPSTE24",
        "hgnc": "HGNC:12877",
        "name": "zinc metallopeptidase STE24",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zmpste24"
      },
      {
        "slug": "erlin2",
        "symbol": "ERLIN2",
        "hgnc": "HGNC:1356",
        "name": "ER lipid raft associated 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/erlin2"
      },
      {
        "slug": "rbm28",
        "symbol": "RBM28",
        "hgnc": "HGNC:21863",
        "name": "RNA binding motif protein 28",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rbm28"
      },
      {
        "slug": "abca12",
        "symbol": "ABCA12",
        "hgnc": "HGNC:14637",
        "name": "ATP binding cassette subfamily A member 12",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abca12"
      },
      {
        "slug": "alox12b",
        "symbol": "ALOX12B",
        "hgnc": "HGNC:430",
        "name": "arachidonate 12-lipoxygenase, 12R type",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alox12b"
      },
      {
        "slug": "aloxe3",
        "symbol": "ALOXE3",
        "hgnc": "HGNC:13743",
        "name": "arachidonate epidermal lipoxygenase 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aloxe3"
      },
      {
        "slug": "als2",
        "symbol": "ALS2",
        "hgnc": "HGNC:443",
        "name": "alsin Rho guanine nucleotide exchange factor ALS2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/als2"
      },
      {
        "slug": "asprv1",
        "symbol": "ASPRV1",
        "hgnc": "HGNC:26321",
        "name": "aspartic peptidase retroviral like 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/asprv1"
      },
      {
        "slug": "cyp4f22",
        "symbol": "CYP4F22",
        "hgnc": "HGNC:26820",
        "name": "cytochrome P450 family 4 subfamily F member 22",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cyp4f22"
      },
      {
        "slug": "lipn",
        "symbol": "LIPN",
        "hgnc": "HGNC:23452",
        "name": "lipase family member N",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lipn"
      },
      {
        "slug": "nipal4",
        "symbol": "NIPAL4",
        "hgnc": "HGNC:28018",
        "name": "NIPA like domain containing 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nipal4"
      },
      {
        "slug": "otud6b",
        "symbol": "OTUD6B",
        "hgnc": "HGNC:24281",
        "name": "OTU deubiquitinase 6B",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/otud6b"
      },
      {
        "slug": "scn4a",
        "symbol": "SCN4A",
        "hgnc": "HGNC:10591",
        "name": "sodium voltage-gated channel alpha subunit 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scn4a"
      },
      {
        "slug": "sdr9c7",
        "symbol": "SDR9C7",
        "hgnc": "HGNC:29958",
        "name": "short chain dehydrogenase/reductase family 9C member 7",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sdr9c7"
      },
      {
        "slug": "slc39a14",
        "symbol": "SLC39A14",
        "hgnc": "HGNC:20858",
        "name": "solute carrier family 39 member 14",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc39a14"
      },
      {
        "slug": "snupn",
        "symbol": "SNUPN",
        "hgnc": "HGNC:14245",
        "name": "snurportin 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/snupn"
      },
      {
        "slug": "sult2b1",
        "symbol": "SULT2B1",
        "hgnc": "HGNC:11459",
        "name": "sulfotransferase family 2B member 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sult2b1"
      },
      {
        "slug": "tgm1",
        "symbol": "TGM1",
        "hgnc": "HGNC:11777",
        "name": "transglutaminase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tgm1"
      },
      {
        "slug": "f8",
        "symbol": "F8",
        "hgnc": "HGNC:3546",
        "name": "coagulation factor VIII",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/f8"
      },
      {
        "slug": "hexb",
        "symbol": "HEXB",
        "hgnc": "HGNC:4879",
        "name": "hexosaminidase subunit beta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hexb"
      },
      {
        "slug": "mecr",
        "symbol": "MECR",
        "hgnc": "HGNC:19691",
        "name": "mitochondrial trans-2-enoyl-CoA reductase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mecr"
      },
      {
        "slug": "ngly1",
        "symbol": "NGLY1",
        "hgnc": "HGNC:17646",
        "name": "N-glycanase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ngly1"
      },
      {
        "slug": "psat1",
        "symbol": "PSAT1",
        "hgnc": "HGNC:19129",
        "name": "phosphoserine aminotransferase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/psat1"
      },
      {
        "slug": "slc35a2",
        "symbol": "SLC35A2",
        "hgnc": "HGNC:11022",
        "name": "solute carrier family 35 member A2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc35a2"
      },
      {
        "slug": "trpv4",
        "symbol": "TRPV4",
        "hgnc": "HGNC:18083",
        "name": "transient receptor potential cation channel subfamily V member 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trpv4"
      },
      {
        "slug": "col17a1",
        "symbol": "COL17A1",
        "hgnc": "HGNC:2194",
        "name": "collagen type XVII alpha 1 chain",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col17a1"
      },
      {
        "slug": "itgb4",
        "symbol": "ITGB4",
        "hgnc": "HGNC:6158",
        "name": "integrin subunit beta 4",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/itgb4"
      },
      {
        "slug": "arx",
        "symbol": "ARX",
        "hgnc": "HGNC:18060",
        "name": "aristaless related homeobox",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arx"
      },
      {
        "slug": "cntnap1",
        "symbol": "CNTNAP1",
        "hgnc": "HGNC:8011",
        "name": "contactin associated protein 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cntnap1"
      },
      {
        "slug": "sepsecs",
        "symbol": "SEPSECS",
        "hgnc": "HGNC:30605",
        "name": "Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sepsecs"
      },
      {
        "slug": "tpm3",
        "symbol": "TPM3",
        "hgnc": "HGNC:12012",
        "name": "tropomyosin 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tpm3"
      }
    ]
  }
}