{
  "url": "https://dantelabs.com/traits/abnormal-circulating-cholesterol-concentration",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "abnormal-circulating-cholesterol-concentration",
    "id": "HP:0003107",
    "name": "Abnormality of cholesterol metabolism",
    "label": "Abnormal circulating cholesterol concentration",
    "definition": "Any deviation from the normal concentration of cholesterol in the blood circulation.",
    "synonyms": [
      "Abnormal cholesterol homeostasis"
    ],
    "systems": [
      {
        "slug": "abnormality-of-metabolism-homeostasis",
        "name": "Laboratory abnormality",
        "url": "https://dantelabs.com/traits/abnormality-of-metabolism-homeostasis"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-circulating-lipid-concentration",
        "name": "Abnormal circulating lipid concentration",
        "url": "https://dantelabs.com/traits/abnormal-circulating-lipid-concentration"
      }
    ],
    "narrower": [
      {
        "slug": "hypercholesterolemia",
        "name": "Elevated serum cholesterol",
        "genes": 77,
        "url": "https://dantelabs.com/traits/hypercholesterolemia"
      },
      {
        "slug": "hypocholesterolemia",
        "name": "Decreased circulating cholesterol level",
        "genes": 20,
        "url": "https://dantelabs.com/traits/hypocholesterolemia"
      },
      {
        "slug": "elevated-8-dehydrocholesterol",
        "name": "Elevated 8-dehydrocholesterol",
        "genes": 2,
        "url": "https://dantelabs.com/traits/elevated-8-dehydrocholesterol"
      },
      {
        "slug": "elevated-8-9-cholestenol",
        "name": "Elevated 8(9)-cholestenol",
        "genes": 2,
        "url": "https://dantelabs.com/traits/elevated-8-9-cholestenol"
      },
      {
        "slug": "elevated-circulating-desmosterol-concentration",
        "name": "Elevated circulating desmosterol concentration",
        "genes": 1,
        "url": "https://dantelabs.com/traits/elevated-circulating-desmosterol-concentration"
      },
      {
        "slug": "elevated-circulating-lathosterol-concentration",
        "name": "Elevated circulating lathosterol concentration",
        "genes": 1,
        "url": "https://dantelabs.com/traits/elevated-circulating-lathosterol-concentration"
      },
      {
        "slug": "abnormal-circulating-7-dehydrocholesterol-concentration",
        "name": "Abnormal circulating 7-dehydrocholesterol concentration",
        "genes": 0,
        "url": "https://dantelabs.com/traits/abnormal-circulating-7-dehydrocholesterol-concentration"
      },
      {
        "slug": "abnormal-circulating-lipoprotein-cholesterol-concentration",
        "name": "Abnormal circulating lipoprotein cholesterol concentration",
        "genes": 0,
        "url": "https://dantelabs.com/traits/abnormal-circulating-lipoprotein-cholesterol-concentration"
      }
    ],
    "genes": [
      {
        "slug": "dhcr24",
        "symbol": "DHCR24",
        "hgnc": "HGNC:2859",
        "name": "24-dehydrocholesterol reductase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dhcr24"
      },
      {
        "slug": "cyp11a1",
        "symbol": "CYP11A1",
        "hgnc": "HGNC:2590",
        "name": "cytochrome P450 family 11 subfamily A member 1",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cyp11a1"
      },
      {
        "slug": "htt",
        "symbol": "HTT",
        "hgnc": "HGNC:4851",
        "name": "huntingtin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/htt"
      },
      {
        "slug": "slc2a3",
        "symbol": "SLC2A3",
        "hgnc": "HGNC:11007",
        "name": "solute carrier family 2 member 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc2a3"
      },
      {
        "slug": "cyp27a1",
        "symbol": "CYP27A1",
        "hgnc": "HGNC:2605",
        "name": "cytochrome P450 family 27 subfamily A member 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cyp27a1"
      },
      {
        "slug": "nsdhl",
        "symbol": "NSDHL",
        "hgnc": "HGNC:13398",
        "name": "NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nsdhl"
      }
    ]
  }
}