{
  "url": "https://dantelabs.com/traits/multiple-enchondromatosis",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "multiple-enchondromatosis",
    "id": "HP:0005701",
    "name": "Multiple enchondromatosis",
    "synonyms": [],
    "systems": [
      {
        "slug": "abnormality-of-the-musculoskeletal-system",
        "name": "Abnormality of the musculoskeletal system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-musculoskeletal-system"
      },
      {
        "slug": "neoplasm",
        "name": "Abnormal tissue mass",
        "url": "https://dantelabs.com/traits/neoplasm"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-cartilage-morphology",
        "name": "Abnormal shape of cartilage",
        "url": "https://dantelabs.com/traits/abnormal-cartilage-morphology"
      },
      {
        "slug": "enchondroma",
        "name": "Enchondroma",
        "url": "https://dantelabs.com/traits/enchondroma"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "mad1l1",
        "symbol": "MAD1L1",
        "hgnc": "HGNC:6762",
        "name": "mitotic arrest deficient 1 like 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mad1l1"
      },
      {
        "slug": "ptpn11",
        "symbol": "PTPN11",
        "hgnc": "HGNC:9644",
        "name": "protein tyrosine phosphatase non-receptor type 11",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ptpn11"
      },
      {
        "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": "idh1",
        "symbol": "IDH1",
        "hgnc": "HGNC:5382",
        "name": "isocitrate dehydrogenase (NADP(+)) 1",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/idh1"
      },
      {
        "slug": "idh2",
        "symbol": "IDH2",
        "hgnc": "HGNC:5383",
        "name": "isocitrate dehydrogenase (NADP(+)) 2",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/idh2"
      },
      {
        "slug": "pth1r",
        "symbol": "PTH1R",
        "hgnc": "HGNC:9608",
        "name": "parathyroid hormone 1 receptor",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pth1r"
      },
      {
        "slug": "polr1b",
        "symbol": "POLR1B",
        "hgnc": "HGNC:20454",
        "name": "RNA polymerase I subunit B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/polr1b"
      },
      {
        "slug": "polr1c",
        "symbol": "POLR1C",
        "hgnc": "HGNC:20194",
        "name": "RNA polymerase I and III subunit C",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/polr1c"
      },
      {
        "slug": "polr1d",
        "symbol": "POLR1D",
        "hgnc": "HGNC:20422",
        "name": "RNA polymerase I and III subunit D",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/polr1d"
      },
      {
        "slug": "tcof1",
        "symbol": "TCOF1",
        "hgnc": "HGNC:11654",
        "name": "treacle ribosome biogenesis factor 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tcof1"
      }
    ]
  }
}