{
  "url": "https://dantelabs.com/traits/irregular-epiphyses",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "irregular-epiphyses",
    "id": "HP:0010582",
    "name": "Irregular end part of long bone",
    "label": "Irregular epiphyses",
    "definition": "An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance.",
    "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": "abnormal-epiphysis-morphology",
        "name": "Abnormal shape of end part of bone",
        "url": "https://dantelabs.com/traits/abnormal-epiphysis-morphology"
      }
    ],
    "narrower": [
      {
        "slug": "irregular-femoral-epiphysis",
        "name": "Irregular thighbone end part",
        "genes": 6,
        "url": "https://dantelabs.com/traits/irregular-femoral-epiphysis"
      },
      {
        "slug": "fragmented-irregular-epiphyses",
        "name": "Fragmented, irregular end part of bone",
        "genes": 1,
        "url": "https://dantelabs.com/traits/fragmented-irregular-epiphyses"
      },
      {
        "slug": "irregular-proximal-tibial-epiphyses",
        "name": "Irregular innermost shankbone end part",
        "genes": 1,
        "url": "https://dantelabs.com/traits/irregular-proximal-tibial-epiphyses"
      },
      {
        "slug": "irregular-epiphyses-of-the-upper-limbs",
        "name": "Irregular end part of upper limb bones",
        "genes": 0,
        "url": "https://dantelabs.com/traits/irregular-epiphyses-of-the-upper-limbs"
      }
    ],
    "genes": [
      {
        "slug": "comp",
        "symbol": "COMP",
        "hgnc": "HGNC:2227",
        "name": "cartilage oligomeric matrix protein",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/comp"
      },
      {
        "slug": "nmnat1",
        "symbol": "NMNAT1",
        "hgnc": "HGNC:17877",
        "name": "nicotinamide nucleotide adenylyltransferase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nmnat1"
      },
      {
        "slug": "sik3",
        "symbol": "SIK3",
        "hgnc": "HGNC:29165",
        "name": "SIK family kinase 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sik3"
      },
      {
        "slug": "chst3",
        "symbol": "CHST3",
        "hgnc": "HGNC:1971",
        "name": "carbohydrate sulfotransferase 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chst3"
      },
      {
        "slug": "rnu4atac",
        "symbol": "RNU4ATAC",
        "hgnc": "HGNC:34016",
        "name": "RNA, U4atac small nuclear",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/rnu4atac"
      },
      {
        "slug": "col2a1",
        "symbol": "COL2A1",
        "hgnc": "HGNC:2200",
        "name": "collagen type II alpha 1 chain",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col2a1"
      },
      {
        "slug": "acan",
        "symbol": "ACAN",
        "hgnc": "HGNC:319",
        "name": "aggrecan",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acan"
      },
      {
        "slug": "col9a1",
        "symbol": "COL9A1",
        "hgnc": "HGNC:2217",
        "name": "collagen type IX alpha 1 chain",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col9a1"
      },
      {
        "slug": "col9a2",
        "symbol": "COL9A2",
        "hgnc": "HGNC:2218",
        "name": "collagen type IX alpha 2 chain",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col9a2"
      },
      {
        "slug": "col9a3",
        "symbol": "COL9A3",
        "hgnc": "HGNC:2219",
        "name": "collagen type IX alpha 3 chain",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col9a3"
      },
      {
        "slug": "dym",
        "symbol": "DYM",
        "hgnc": "HGNC:21317",
        "name": "dymeclin",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dym"
      },
      {
        "slug": "kif22",
        "symbol": "KIF22",
        "hgnc": "HGNC:6391",
        "name": "kinesin family member 22",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kif22"
      },
      {
        "slug": "matn3",
        "symbol": "MATN3",
        "hgnc": "HGNC:6909",
        "name": "matrilin 3",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/matn3"
      },
      {
        "slug": "nans",
        "symbol": "NANS",
        "hgnc": "HGNC:19237",
        "name": "N-acetylneuraminate synthase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nans"
      },
      {
        "slug": "slc26a2",
        "symbol": "SLC26A2",
        "hgnc": "HGNC:10994",
        "name": "solute carrier family 26 member 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc26a2"
      },
      {
        "slug": "trappc2",
        "symbol": "TRAPPC2",
        "hgnc": "HGNC:23068",
        "name": "trafficking protein particle complex subunit 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trappc2"
      },
      {
        "slug": "trip11",
        "symbol": "TRIP11",
        "hgnc": "HGNC:12305",
        "name": "thyroid hormone receptor interactor 11",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trip11"
      }
    ]
  }
}