{
  "url": "https://dantelabs.com/traits/multiple-joint-contractures",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "multiple-joint-contractures",
    "id": "HP:0002828",
    "name": "Multiple joint contractures",
    "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": "flexion-contracture",
        "name": "Flexed joint that cannot be straightened",
        "url": "https://dantelabs.com/traits/flexion-contracture"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "bicd2",
        "symbol": "BICD2",
        "hgnc": "HGNC:17208",
        "name": "BICD cargo adaptor 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bicd2"
      },
      {
        "slug": "inpp4a",
        "symbol": "INPP4A",
        "hgnc": "HGNC:6074",
        "name": "inositol polyphosphate-4-phosphatase type I A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/inpp4a"
      },
      {
        "slug": "ky",
        "symbol": "KY",
        "hgnc": "HGNC:26576",
        "name": "kyphoscoliosis peptidase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ky"
      },
      {
        "slug": "tor1a",
        "symbol": "TOR1A",
        "hgnc": "HGNC:3098",
        "name": "torsin family 1 member A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tor1a"
      },
      {
        "slug": "alg14",
        "symbol": "ALG14",
        "hgnc": "HGNC:28287",
        "name": "ALG14 UDP-N-acetylglucosaminyltransferase subunit",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alg14"
      },
      {
        "slug": "b3galt6",
        "symbol": "B3GALT6",
        "hgnc": "HGNC:17978",
        "name": "beta-1,3-galactosyltransferase 6",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/b3galt6"
      },
      {
        "slug": "dok7",
        "symbol": "DOK7",
        "hgnc": "HGNC:26594",
        "name": "docking protein 7",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dok7"
      },
      {
        "slug": "flrt1",
        "symbol": "FLRT1",
        "hgnc": "HGNC:3760",
        "name": "fibronectin leucine rich transmembrane protein 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/flrt1"
      },
      {
        "slug": "gldn",
        "symbol": "GLDN",
        "hgnc": "HGNC:29514",
        "name": "gliomedin",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gldn"
      },
      {
        "slug": "gpkow",
        "symbol": "GPKOW",
        "hgnc": "HGNC:30677",
        "name": "G-patch domain and KOW motifs",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gpkow"
      },
      {
        "slug": "kif21a",
        "symbol": "KIF21A",
        "hgnc": "HGNC:19349",
        "name": "kinesin family member 21A",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kif21a"
      },
      {
        "slug": "klc2",
        "symbol": "KLC2",
        "hgnc": "HGNC:20716",
        "name": "kinesin light chain 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/klc2"
      },
      {
        "slug": "lmna",
        "symbol": "LMNA",
        "hgnc": "HGNC:6636",
        "name": "lamin A/C",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lmna"
      },
      {
        "slug": "magel2",
        "symbol": "MAGEL2",
        "hgnc": "HGNC:6814",
        "name": "MAGE family member L2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/magel2"
      },
      {
        "slug": "musk",
        "symbol": "MUSK",
        "hgnc": "HGNC:7525",
        "name": "muscle associated receptor tyrosine kinase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/musk"
      },
      {
        "slug": "myod1",
        "symbol": "MYOD1",
        "hgnc": "HGNC:7611",
        "name": "myogenic differentiation 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myod1"
      },
      {
        "slug": "nup88",
        "symbol": "NUP88",
        "hgnc": "HGNC:8067",
        "name": "nucleoporin 88",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nup88"
      },
      {
        "slug": "rapsn",
        "symbol": "RAPSN",
        "hgnc": "HGNC:9863",
        "name": "receptor associated protein of the synapse",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rapsn"
      },
      {
        "slug": "slc18a3",
        "symbol": "SLC18A3",
        "hgnc": "HGNC:10936",
        "name": "solute carrier family 18 member A3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc18a3"
      },
      {
        "slug": "tuba1a",
        "symbol": "TUBA1A",
        "hgnc": "HGNC:20766",
        "name": "tubulin alpha 1a",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tuba1a"
      },
      {
        "slug": "zmpste24",
        "symbol": "ZMPSTE24",
        "hgnc": "HGNC:12877",
        "name": "zinc metallopeptidase STE24",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zmpste24"
      },
      {
        "slug": "chrng",
        "symbol": "CHRNG",
        "hgnc": "HGNC:1967",
        "name": "cholinergic receptor nicotinic gamma subunit",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chrng"
      },
      {
        "slug": "col12a1",
        "symbol": "COL12A1",
        "hgnc": "HGNC:2188",
        "name": "collagen type XII alpha 1 chain",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/col12a1"
      },
      {
        "slug": "col6a1",
        "symbol": "COL6A1",
        "hgnc": "HGNC:2211",
        "name": "collagen type VI alpha 1 chain",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col6a1"
      },
      {
        "slug": "col6a2",
        "symbol": "COL6A2",
        "hgnc": "HGNC:2212",
        "name": "collagen type VI alpha 2 chain",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col6a2"
      },
      {
        "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": "dna2",
        "symbol": "DNA2",
        "hgnc": "HGNC:2939",
        "name": "DNA replication helicase/nuclease 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dna2"
      },
      {
        "slug": "exosc9",
        "symbol": "EXOSC9",
        "hgnc": "HGNC:9137",
        "name": "exosome component 9",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/exosc9"
      },
      {
        "slug": "fkrp",
        "symbol": "FKRP",
        "hgnc": "HGNC:17997",
        "name": "fukutin related protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fkrp"
      },
      {
        "slug": "gmppb",
        "symbol": "GMPPB",
        "hgnc": "HGNC:22932",
        "name": "GDP-mannose pyrophosphorylase B",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gmppb"
      },
      {
        "slug": "large1",
        "symbol": "LARGE1",
        "hgnc": "HGNC:6511",
        "name": "LARGE xylosyl- and glucuronyltransferase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/large1"
      },
      {
        "slug": "myh7",
        "symbol": "MYH7",
        "hgnc": "HGNC:7577",
        "name": "myosin heavy chain 7",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myh7"
      },
      {
        "slug": "myot",
        "symbol": "MYOT",
        "hgnc": "HGNC:12399",
        "name": "myotilin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myot"
      },
      {
        "slug": "pigs",
        "symbol": "PIGS",
        "hgnc": "HGNC:14937",
        "name": "phosphatidylinositol glycan anchor biosynthesis class S",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pigs"
      },
      {
        "slug": "pomt1",
        "symbol": "POMT1",
        "hgnc": "HGNC:9202",
        "name": "protein O-mannosyltransferase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomt1"
      },
      {
        "slug": "pomt2",
        "symbol": "POMT2",
        "hgnc": "HGNC:19743",
        "name": "protein O-mannosyltransferase 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomt2"
      },
      {
        "slug": "rbm28",
        "symbol": "RBM28",
        "hgnc": "HGNC:21863",
        "name": "RNA binding motif protein 28",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rbm28"
      },
      {
        "slug": "rfc1",
        "symbol": "RFC1",
        "hgnc": "HGNC:9969",
        "name": "replication factor C subunit 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rfc1"
      },
      {
        "slug": "rttn",
        "symbol": "RTTN",
        "hgnc": "HGNC:18654",
        "name": "rotatin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rttn"
      },
      {
        "slug": "ryr1",
        "symbol": "RYR1",
        "hgnc": "HGNC:10483",
        "name": "ryanodine receptor 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ryr1"
      },
      {
        "slug": "selenon",
        "symbol": "SELENON",
        "hgnc": "HGNC:15999",
        "name": "selenoprotein N",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/selenon"
      },
      {
        "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": "ttn",
        "symbol": "TTN",
        "hgnc": "HGNC:12403",
        "name": "titin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ttn"
      },
      {
        "slug": "vps11",
        "symbol": "VPS11",
        "hgnc": "HGNC:14583",
        "name": "VPS11 core subunit of CORVET and HOPS complexes",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vps11"
      },
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "hgnc": "HGNC:20",
        "name": "alanyl-tRNA synthetase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aars1"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "hgnc": "HGNC:225",
        "name": "adenosine deaminase RNA specific",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adar"
      },
      {
        "slug": "cars1",
        "symbol": "CARS1",
        "hgnc": "HGNC:1493",
        "name": "cysteinyl-tRNA synthetase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cars1"
      },
      {
        "slug": "dbr1",
        "symbol": "DBR1",
        "hgnc": "HGNC:15594",
        "name": "debranching RNA lariats 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dbr1"
      },
      {
        "slug": "ercc2",
        "symbol": "ERCC2",
        "hgnc": "HGNC:3434",
        "name": "ERCC excision repair 2, TFIIH core complex helicase subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc2"
      },
      {
        "slug": "ercc3",
        "symbol": "ERCC3",
        "hgnc": "HGNC:3435",
        "name": "ERCC excision repair 3, TFIIH core complex helicase subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc3"
      },
      {
        "slug": "gtf2e2",
        "symbol": "GTF2E2",
        "hgnc": "HGNC:4651",
        "name": "general transcription factor IIE subunit 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gtf2e2"
      },
      {
        "slug": "gtf2h5",
        "symbol": "GTF2H5",
        "hgnc": "HGNC:21157",
        "name": "general transcription factor IIH subunit 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gtf2h5"
      },
      {
        "slug": "iars2",
        "symbol": "IARS2",
        "hgnc": "HGNC:29685",
        "name": "isoleucyl-tRNA synthetase 2, mitochondrial",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/iars2"
      },
      {
        "slug": "idh1",
        "symbol": "IDH1",
        "hgnc": "HGNC:5382",
        "name": "isocitrate dehydrogenase (NADP(+)) 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/idh1"
      },
      {
        "slug": "ifih1",
        "symbol": "IFIH1",
        "hgnc": "HGNC:18873",
        "name": "interferon induced with helicase C domain 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ifih1"
      },
      {
        "slug": "lsm11",
        "symbol": "LSM11",
        "hgnc": "HGNC:30860",
        "name": "LSM11, U7 small nuclear RNA associated",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lsm11"
      },
      {
        "slug": "mplkip",
        "symbol": "MPLKIP",
        "hgnc": "HGNC:16002",
        "name": "M-phase specific PLK1 interacting protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mplkip"
      },
      {
        "slug": "nsdhl",
        "symbol": "NSDHL",
        "hgnc": "HGNC:13398",
        "name": "NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nsdhl"
      },
      {
        "slug": "pmm2",
        "symbol": "PMM2",
        "hgnc": "HGNC:9115",
        "name": "phosphomannomutase 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pmm2"
      },
      {
        "slug": "rnaseh2a",
        "symbol": "RNASEH2A",
        "hgnc": "HGNC:18518",
        "name": "ribonuclease H2 subunit A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnaseh2a"
      },
      {
        "slug": "rnaseh2b",
        "symbol": "RNASEH2B",
        "hgnc": "HGNC:25671",
        "name": "ribonuclease H2 subunit B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnaseh2b"
      },
      {
        "slug": "rnaseh2c",
        "symbol": "RNASEH2C",
        "hgnc": "HGNC:24116",
        "name": "ribonuclease H2 subunit C",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnaseh2c"
      },
      {
        "slug": "rnf113a",
        "symbol": "RNF113A",
        "hgnc": "HGNC:12974",
        "name": "ring finger protein 113A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnf113a"
      },
      {
        "slug": "rnu7-1",
        "symbol": "RNU7-1",
        "hgnc": "HGNC:34033",
        "name": "RNA, U7 small nuclear 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu7-1"
      },
      {
        "slug": "samhd1",
        "symbol": "SAMHD1",
        "hgnc": "HGNC:15925",
        "name": "SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/samhd1"
      },
      {
        "slug": "slc1a4",
        "symbol": "SLC1A4",
        "hgnc": "HGNC:10942",
        "name": "solute carrier family 1 member 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc1a4"
      },
      {
        "slug": "tars1",
        "symbol": "TARS1",
        "hgnc": "HGNC:11572",
        "name": "threonyl-tRNA synthetase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tars1"
      },
      {
        "slug": "tgm1",
        "symbol": "TGM1",
        "hgnc": "HGNC:11777",
        "name": "transglutaminase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tgm1"
      },
      {
        "slug": "trex1",
        "symbol": "TREX1",
        "hgnc": "HGNC:12269",
        "name": "three prime repair exonuclease 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trex1"
      },
      {
        "slug": "trip4",
        "symbol": "TRIP4",
        "hgnc": "HGNC:12310",
        "name": "thyroid hormone receptor interactor 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trip4"
      },
      {
        "slug": "flna",
        "symbol": "FLNA",
        "hgnc": "HGNC:3754",
        "name": "filamin A",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/flna"
      },
      {
        "slug": "med12",
        "symbol": "MED12",
        "hgnc": "HGNC:11957",
        "name": "mediator complex subunit 12",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/med12"
      },
      {
        "slug": "mybpc1",
        "symbol": "MYBPC1",
        "hgnc": "HGNC:7549",
        "name": "myosin binding protein C1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mybpc1"
      },
      {
        "slug": "nde1",
        "symbol": "NDE1",
        "hgnc": "HGNC:17619",
        "name": "nudE neurodevelopment protein 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nde1"
      },
      {
        "slug": "pip5k1c",
        "symbol": "PIP5K1C",
        "hgnc": "HGNC:8996",
        "name": "phosphatidylinositol-4-phosphate 5-kinase type 1 gamma",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pip5k1c"
      },
      {
        "slug": "uba1",
        "symbol": "UBA1",
        "hgnc": "HGNC:12469",
        "name": "ubiquitin like modifier activating enzyme 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/uba1"
      }
    ]
  }
}