{
  "url": "https://dantelabs.com/traits/abnormal-joint-morphology",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "abnormal-joint-morphology",
    "id": "HP:0001367",
    "name": "Abnormal shape of joints",
    "label": "Abnormal joint morphology",
    "definition": "An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.",
    "synonyms": [
      "Abnormality of the joints",
      "Anomaly of the joints",
      "Joint disease"
    ],
    "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-skeletal-morphology",
        "name": "Abnormally shaped skeletal",
        "url": "https://dantelabs.com/traits/abnormal-skeletal-morphology"
      }
    ],
    "narrower": [
      {
        "slug": "arthritis",
        "name": "Arthritis",
        "genes": 173,
        "url": "https://dantelabs.com/traits/arthritis"
      },
      {
        "slug": "joint-dislocation",
        "name": "Joint dislocation",
        "genes": 76,
        "url": "https://dantelabs.com/traits/joint-dislocation"
      },
      {
        "slug": "joint-swelling",
        "name": "Joint swelling",
        "genes": 53,
        "url": "https://dantelabs.com/traits/joint-swelling"
      },
      {
        "slug": "pterygium",
        "name": "Pterygium",
        "genes": 37,
        "url": "https://dantelabs.com/traits/pterygium"
      },
      {
        "slug": "synostosis-of-joints",
        "name": "Fusion of joints",
        "genes": 25,
        "url": "https://dantelabs.com/traits/synostosis-of-joints"
      },
      {
        "slug": "chondrocalcinosis",
        "name": "Calcium deposits in joints",
        "genes": 22,
        "url": "https://dantelabs.com/traits/chondrocalcinosis"
      },
      {
        "slug": "arthropathy",
        "name": "Disease of the joints",
        "genes": 22,
        "url": "https://dantelabs.com/traits/arthropathy"
      },
      {
        "slug": "joint-hemorrhage",
        "name": "Bleeding within a joint",
        "genes": 18,
        "url": "https://dantelabs.com/traits/joint-hemorrhage"
      },
      {
        "slug": "enlarged-joints",
        "name": "Enlarged joints",
        "genes": 10,
        "url": "https://dantelabs.com/traits/enlarged-joints"
      },
      {
        "slug": "joint-subluxation",
        "name": "Joint subluxation",
        "genes": 10,
        "url": "https://dantelabs.com/traits/joint-subluxation"
      },
      {
        "slug": "abnormal-sacroiliac-joint-morphology",
        "name": "Abnormal sacroiliac joint morphology",
        "genes": 5,
        "url": "https://dantelabs.com/traits/abnormal-sacroiliac-joint-morphology"
      },
      {
        "slug": "osteochondrosis",
        "name": "Osteochondrosis",
        "genes": 5,
        "url": "https://dantelabs.com/traits/osteochondrosis"
      },
      {
        "slug": "abnormality-of-lower-limb-joint",
        "name": "Abnormality of lower limb joint",
        "genes": 2,
        "url": "https://dantelabs.com/traits/abnormality-of-lower-limb-joint"
      },
      {
        "slug": "periarticular-soft-tissue-mass",
        "name": "Periarticular soft-tissue mass",
        "genes": 1,
        "url": "https://dantelabs.com/traits/periarticular-soft-tissue-mass"
      },
      {
        "slug": "progressive-joint-destruction",
        "name": "Progressive joint destruction",
        "genes": 1,
        "url": "https://dantelabs.com/traits/progressive-joint-destruction"
      },
      {
        "slug": "abnormal-synovial-bursa-morphology",
        "name": "Abnormal synovial bursa morphology",
        "genes": 0,
        "url": "https://dantelabs.com/traits/abnormal-synovial-bursa-morphology"
      },
      {
        "slug": "abnormal-synovial-membrane-morphology",
        "name": "Abnormal synovial membrane morphology",
        "genes": 0,
        "url": "https://dantelabs.com/traits/abnormal-synovial-membrane-morphology"
      },
      {
        "slug": "abnormality-of-upper-limb-joint",
        "name": "Abnormality of upper limb joint",
        "genes": 0,
        "url": "https://dantelabs.com/traits/abnormality-of-upper-limb-joint"
      }
    ],
    "genes": [
      {
        "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": "col11a2",
        "symbol": "COL11A2",
        "hgnc": "HGNC:2187",
        "name": "collagen type XI alpha 2 chain",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col11a2"
      },
      {
        "slug": "col2a1",
        "symbol": "COL2A1",
        "hgnc": "HGNC:2200",
        "name": "collagen type II alpha 1 chain",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col2a1"
      },
      {
        "slug": "tctn3",
        "symbol": "TCTN3",
        "hgnc": "HGNC:24519",
        "name": "tectonic family member 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tctn3"
      },
      {
        "slug": "idh1",
        "symbol": "IDH1",
        "hgnc": "HGNC:5382",
        "name": "isocitrate dehydrogenase (NADP(+)) 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/idh1"
      },
      {
        "slug": "nlrp3",
        "symbol": "NLRP3",
        "hgnc": "HGNC:16400",
        "name": "NLR family pyrin domain containing 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nlrp3"
      },
      {
        "slug": "dnajc21",
        "symbol": "DNAJC21",
        "hgnc": "HGNC:27030",
        "name": "DnaJ heat shock protein family (Hsp40) member C21",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnajc21"
      },
      {
        "slug": "efl1",
        "symbol": "EFL1",
        "hgnc": "HGNC:25789",
        "name": "elongation factor like GTPase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/efl1"
      },
      {
        "slug": "sbds",
        "symbol": "SBDS",
        "hgnc": "HGNC:19440",
        "name": "SBDS ribosome maturation factor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sbds"
      },
      {
        "slug": "emg1",
        "symbol": "EMG1",
        "hgnc": "HGNC:16912",
        "name": "EMG1 N1-specific pseudouridine methyltransferase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/emg1"
      },
      {
        "slug": "ghr",
        "symbol": "GHR",
        "hgnc": "HGNC:4263",
        "name": "growth hormone receptor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ghr"
      },
      {
        "slug": "ptpn11",
        "symbol": "PTPN11",
        "hgnc": "HGNC:9644",
        "name": "protein tyrosine phosphatase non-receptor type 11",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ptpn11"
      }
    ]
  }
}