{
  "url": "https://dantelabs.com/traits/joint-contracture",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "joint-contracture",
    "id": "HP:0034392",
    "name": "Joint contracture",
    "definition": "A limitation in the passive range of motion of a joint resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part.",
    "synonyms": [
      "Contracture"
    ],
    "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-tendon-morphology",
        "name": "Abnormal shape of tendon",
        "url": "https://dantelabs.com/traits/abnormal-tendon-morphology"
      },
      {
        "slug": "abnormality-of-connective-tissue",
        "name": "Abnormality of connective tissue",
        "url": "https://dantelabs.com/traits/abnormality-of-connective-tissue"
      },
      {
        "slug": "abnormality-of-joint-mobility",
        "name": "Abnormality of joint mobility",
        "url": "https://dantelabs.com/traits/abnormality-of-joint-mobility"
      },
      {
        "slug": "abnormal-skeletal-muscle-morphology",
        "name": "Abnormally shaped muscle",
        "url": "https://dantelabs.com/traits/abnormal-skeletal-muscle-morphology"
      }
    ],
    "narrower": [
      {
        "slug": "flexion-contracture",
        "name": "Flexed joint that cannot be straightened",
        "genes": 341,
        "url": "https://dantelabs.com/traits/flexion-contracture"
      },
      {
        "slug": "limb-joint-contracture",
        "name": "Limb contractures",
        "genes": 36,
        "url": "https://dantelabs.com/traits/limb-joint-contracture"
      },
      {
        "slug": "neck-joint-contracture",
        "name": "Restricted neck mobility due to contractures",
        "genes": 4,
        "url": "https://dantelabs.com/traits/neck-joint-contracture"
      }
    ],
    "genes": [
      {
        "slug": "acer3",
        "symbol": "ACER3",
        "hgnc": "HGNC:16066",
        "name": "alkaline ceramidase 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acer3"
      },
      {
        "slug": "acta1",
        "symbol": "ACTA1",
        "hgnc": "HGNC:129",
        "name": "actin alpha 1, skeletal muscle",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acta1"
      },
      {
        "slug": "alg1",
        "symbol": "ALG1",
        "hgnc": "HGNC:18294",
        "name": "ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alg1"
      },
      {
        "slug": "b3galt6",
        "symbol": "B3GALT6",
        "hgnc": "HGNC:17978",
        "name": "beta-1,3-galactosyltransferase 6",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/b3galt6"
      },
      {
        "slug": "brat1",
        "symbol": "BRAT1",
        "hgnc": "HGNC:21701",
        "name": "BRCA1 associated ATM activator 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/brat1"
      },
      {
        "slug": "ercc8",
        "symbol": "ERCC8",
        "hgnc": "HGNC:3439",
        "name": "ERCC excision repair 8, CSA ubiquitin ligase complex subunit",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc8"
      },
      {
        "slug": "erlin2",
        "symbol": "ERLIN2",
        "hgnc": "HGNC:1356",
        "name": "ER lipid raft associated 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/erlin2"
      },
      {
        "slug": "fcsk",
        "symbol": "FCSK",
        "hgnc": "HGNC:29500",
        "name": "fucose kinase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fcsk"
      },
      {
        "slug": "flvcr1",
        "symbol": "FLVCR1",
        "hgnc": "HGNC:24682",
        "name": "FLVCR choline and heme transporter 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/flvcr1"
      },
      {
        "slug": "hspb8",
        "symbol": "HSPB8",
        "hgnc": "HGNC:30171",
        "name": "heat shock protein family B (small) member 8",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hspb8"
      },
      {
        "slug": "kdm2b",
        "symbol": "KDM2B",
        "hgnc": "HGNC:13610",
        "name": "lysine demethylase 2B",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kdm2b"
      },
      {
        "slug": "lias",
        "symbol": "LIAS",
        "hgnc": "HGNC:16429",
        "name": "lipoic acid synthetase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lias"
      },
      {
        "slug": "lmna",
        "symbol": "LMNA",
        "hgnc": "HGNC:6636",
        "name": "lamin A/C",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lmna"
      },
      {
        "slug": "nalcn",
        "symbol": "NALCN",
        "hgnc": "HGNC:19082",
        "name": "sodium leak channel, non-selective",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nalcn"
      },
      {
        "slug": "pold1",
        "symbol": "POLD1",
        "hgnc": "HGNC:9175",
        "name": "DNA polymerase delta 1, catalytic subunit",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pold1"
      },
      {
        "slug": "snupn",
        "symbol": "SNUPN",
        "hgnc": "HGNC:14245",
        "name": "snurportin 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/snupn"
      },
      {
        "slug": "sptssa",
        "symbol": "SPTSSA",
        "hgnc": "HGNC:20361",
        "name": "serine palmitoyltransferase small subunit A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sptssa"
      },
      {
        "slug": "tpm2",
        "symbol": "TPM2",
        "hgnc": "HGNC:12011",
        "name": "tropomyosin 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tpm2"
      },
      {
        "slug": "ttn",
        "symbol": "TTN",
        "hgnc": "HGNC:12403",
        "name": "titin",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ttn"
      },
      {
        "slug": "aimp1",
        "symbol": "AIMP1",
        "hgnc": "HGNC:10648",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aimp1"
      },
      {
        "slug": "fam111b",
        "symbol": "FAM111B",
        "hgnc": "HGNC:24200",
        "name": "FAM111 trypsin like peptidase B",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fam111b"
      },
      {
        "slug": "flvcr2",
        "symbol": "FLVCR2",
        "hgnc": "HGNC:20105",
        "name": "FLVCR choline and putative heme transporter 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/flvcr2"
      },
      {
        "slug": "nkx6-2",
        "symbol": "NKX6-2",
        "hgnc": "HGNC:19321",
        "name": "NK6 homeobox 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nkx6-2"
      },
      {
        "slug": "prune1",
        "symbol": "PRUNE1",
        "hgnc": "HGNC:13420",
        "name": "prune exopolyphosphatase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prune1"
      },
      {
        "slug": "wdr45b",
        "symbol": "WDR45B",
        "hgnc": "HGNC:25072",
        "name": "WD repeat domain 45B",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wdr45b"
      },
      {
        "slug": "adamtsl2",
        "symbol": "ADAMTSL2",
        "hgnc": "HGNC:14631",
        "name": "ADAMTS like 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adamtsl2"
      },
      {
        "slug": "atp6v1a",
        "symbol": "ATP6V1A",
        "hgnc": "HGNC:851",
        "name": "ATPase H+ transporting V1 subunit A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp6v1a"
      },
      {
        "slug": "bgn",
        "symbol": "BGN",
        "hgnc": "HGNC:1044",
        "name": "biglycan",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bgn"
      },
      {
        "slug": "bud13",
        "symbol": "BUD13",
        "hgnc": "HGNC:28199",
        "name": "BUD13 spliceosome associated protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bud13"
      },
      {
        "slug": "cog3",
        "symbol": "COG3",
        "hgnc": "HGNC:18619",
        "name": "component of oligomeric golgi complex 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cog3"
      },
      {
        "slug": "col6a3",
        "symbol": "COL6A3",
        "hgnc": "HGNC:2213",
        "name": "collagen type VI alpha 3 chain",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col6a3"
      },
      {
        "slug": "elovl4",
        "symbol": "ELOVL4",
        "hgnc": "HGNC:14415",
        "name": "ELOVL fatty acid elongase 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/elovl4"
      },
      {
        "slug": "fam177a1",
        "symbol": "FAM177A1",
        "hgnc": "HGNC:19829",
        "name": "family with sequence similarity 177 member A1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fam177a1"
      },
      {
        "slug": "fbn1",
        "symbol": "FBN1",
        "hgnc": "HGNC:3603",
        "name": "fibrillin 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbn1"
      },
      {
        "slug": "fut8",
        "symbol": "FUT8",
        "hgnc": "HGNC:4019",
        "name": "fucosyltransferase 8",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fut8"
      },
      {
        "slug": "gfm2",
        "symbol": "GFM2",
        "hgnc": "HGNC:29682",
        "name": "GTP dependent ribosome recycling factor mitochondrial 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gfm2"
      },
      {
        "slug": "hikeshi",
        "symbol": "HIKESHI",
        "hgnc": "HGNC:26938",
        "name": "heat shock protein nuclear import factor hikeshi",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hikeshi"
      },
      {
        "slug": "iba57",
        "symbol": "IBA57",
        "hgnc": "HGNC:27302",
        "name": "iron-sulfur cluster assembly factor IBA57",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/iba57"
      },
      {
        "slug": "klhl7",
        "symbol": "KLHL7",
        "hgnc": "HGNC:15646",
        "name": "kelch like family member 7",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/klhl7"
      },
      {
        "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": "mrps34",
        "symbol": "MRPS34",
        "hgnc": "HGNC:16618",
        "name": "mitochondrial ribosomal protein S34",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mrps34"
      },
      {
        "slug": "ncapg2",
        "symbol": "NCAPG2",
        "hgnc": "HGNC:21904",
        "name": "non-SMC condensin II complex subunit G2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ncapg2"
      },
      {
        "slug": "pgbd5",
        "symbol": "PGBD5",
        "hgnc": "HGNC:19405",
        "name": "piggyBac transposable element derived 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pgbd5"
      },
      {
        "slug": "scarf2",
        "symbol": "SCARF2",
        "hgnc": "HGNC:19869",
        "name": "scavenger receptor class F member 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scarf2"
      },
      {
        "slug": "slc26a2",
        "symbol": "SLC26A2",
        "hgnc": "HGNC:10994",
        "name": "solute carrier family 26 member 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc26a2"
      },
      {
        "slug": "stat4",
        "symbol": "STAT4",
        "hgnc": "HGNC:11365",
        "name": "signal transducer and activator of transcription 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stat4"
      },
      {
        "slug": "stim1",
        "symbol": "STIM1",
        "hgnc": "HGNC:11386",
        "name": "stromal interaction molecule 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stim1"
      },
      {
        "slug": "tbck",
        "symbol": "TBCK",
        "hgnc": "HGNC:28261",
        "name": "TBC1 domain containing kinase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbck"
      },
      {
        "slug": "tor1aip1",
        "symbol": "TOR1AIP1",
        "hgnc": "HGNC:29456",
        "name": "torsin 1A interacting protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tor1aip1"
      },
      {
        "slug": "trip4",
        "symbol": "TRIP4",
        "hgnc": "HGNC:12310",
        "name": "thyroid hormone receptor interactor 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trip4"
      },
      {
        "slug": "atp6v1e1",
        "symbol": "ATP6V1E1",
        "hgnc": "HGNC:857",
        "name": "ATPase H+ transporting V1 subunit E1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp6v1e1"
      },
      {
        "slug": "coasy",
        "symbol": "COASY",
        "hgnc": "HGNC:29932",
        "name": "Coenzyme A synthase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/coasy"
      },
      {
        "slug": "exosc8",
        "symbol": "EXOSC8",
        "hgnc": "HGNC:17035",
        "name": "exosome component 8",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/exosc8"
      },
      {
        "slug": "flnc",
        "symbol": "FLNC",
        "hgnc": "HGNC:3756",
        "name": "filamin C",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/flnc"
      },
      {
        "slug": "gria4",
        "symbol": "GRIA4",
        "hgnc": "HGNC:4574",
        "name": "glutamate ionotropic receptor AMPA type subunit 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gria4"
      },
      {
        "slug": "gsc",
        "symbol": "GSC",
        "hgnc": "HGNC:4612",
        "name": "goosecoid homeobox",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gsc"
      },
      {
        "slug": "nacc1",
        "symbol": "NACC1",
        "hgnc": "HGNC:20967",
        "name": "nucleus accumbens associated 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nacc1"
      },
      {
        "slug": "pcna",
        "symbol": "PCNA",
        "hgnc": "HGNC:8729",
        "name": "proliferating cell nuclear antigen",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pcna"
      },
      {
        "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": "pogz",
        "symbol": "POGZ",
        "hgnc": "HGNC:18801",
        "name": "pogo transposable element derived with ZNF domain",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pogz"
      },
      {
        "slug": "polr1a",
        "symbol": "POLR1A",
        "hgnc": "HGNC:17264",
        "name": "RNA polymerase I subunit A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/polr1a"
      },
      {
        "slug": "pth1r",
        "symbol": "PTH1R",
        "hgnc": "HGNC:9608",
        "name": "parathyroid hormone 1 receptor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pth1r"
      },
      {
        "slug": "tnpo3",
        "symbol": "TNPO3",
        "hgnc": "HGNC:17103",
        "name": "transportin 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tnpo3"
      },
      {
        "slug": "traf7",
        "symbol": "TRAF7",
        "hgnc": "HGNC:20456",
        "name": "TNF receptor associated factor 7",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/traf7"
      },
      {
        "slug": "ddc",
        "symbol": "DDC",
        "hgnc": "HGNC:2719",
        "name": "dopa decarboxylase",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ddc"
      },
      {
        "slug": "gmppb",
        "symbol": "GMPPB",
        "hgnc": "HGNC:22932",
        "name": "GDP-mannose pyrophosphorylase B",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gmppb"
      }
    ]
  }
}