{
  "url": "https://dantelabs.com/traits/xanthomatosis",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "xanthomatosis",
    "id": "HP:0000991",
    "name": "Yellow bumps of fatty deposits on skin",
    "label": "Xanthomatosis",
    "definition": "The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.",
    "synonyms": [
      "Xanthomata"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-integument",
        "name": "Abnormality of the integument",
        "url": "https://dantelabs.com/traits/abnormality-of-the-integument"
      }
    ],
    "broader": [
      {
        "slug": "localized-skin-lesion",
        "name": "Localized skin lesion",
        "url": "https://dantelabs.com/traits/localized-skin-lesion"
      }
    ],
    "narrower": [
      {
        "slug": "xanthelasma",
        "name": "Fatty deposits in skin around the eyes",
        "genes": 27,
        "url": "https://dantelabs.com/traits/xanthelasma"
      },
      {
        "slug": "tendon-xanthomatosis",
        "name": "Tendon xanthomatosis",
        "genes": 14,
        "url": "https://dantelabs.com/traits/tendon-xanthomatosis"
      },
      {
        "slug": "eruptive-xanthomas",
        "name": "Eruptive xanthomas",
        "genes": 4,
        "url": "https://dantelabs.com/traits/eruptive-xanthomas"
      },
      {
        "slug": "tuberous-xanthoma",
        "name": "Tuberous xanthoma",
        "genes": 4,
        "url": "https://dantelabs.com/traits/tuberous-xanthoma"
      },
      {
        "slug": "atheroeruptive-xanthoma",
        "name": "Atheroeruptive xanthoma",
        "genes": 1,
        "url": "https://dantelabs.com/traits/atheroeruptive-xanthoma"
      },
      {
        "slug": "verruciform-xanthoma",
        "name": "Verruciform xanthoma",
        "genes": 1,
        "url": "https://dantelabs.com/traits/verruciform-xanthoma"
      },
      {
        "slug": "xanthomas-of-the-palmar-creases",
        "name": "Xanthomas of the palmar creases",
        "genes": 1,
        "url": "https://dantelabs.com/traits/xanthomas-of-the-palmar-creases"
      }
    ],
    "genes": [
      {
        "slug": "cyp27a1",
        "symbol": "CYP27A1",
        "hgnc": "HGNC:2605",
        "name": "cytochrome P450 family 27 subfamily A member 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cyp27a1"
      },
      {
        "slug": "lmna",
        "symbol": "LMNA",
        "hgnc": "HGNC:6636",
        "name": "lamin A/C",
        "frequency": "obligate",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/lmna"
      },
      {
        "slug": "fgfr1",
        "symbol": "FGFR1",
        "hgnc": "HGNC:3688",
        "name": "fibroblast growth factor receptor 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgfr1"
      },
      {
        "slug": "kras",
        "symbol": "KRAS",
        "hgnc": "HGNC:6407",
        "name": "KRas proto-oncogene, GTPase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kras"
      },
      {
        "slug": "pparg",
        "symbol": "PPARG",
        "hgnc": "HGNC:9236",
        "name": "peroxisome proliferator activated receptor gamma",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pparg"
      },
      {
        "slug": "abca1",
        "symbol": "ABCA1",
        "hgnc": "HGNC:29",
        "name": "ATP binding cassette subfamily A member 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abca1"
      },
      {
        "slug": "abcg5",
        "symbol": "ABCG5",
        "hgnc": "HGNC:13886",
        "name": "ATP binding cassette subfamily G member 5",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/abcg5"
      },
      {
        "slug": "abcg8",
        "symbol": "ABCG8",
        "hgnc": "HGNC:13887",
        "name": "ATP binding cassette subfamily G member 8",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/abcg8"
      },
      {
        "slug": "apoa1",
        "symbol": "APOA1",
        "hgnc": "HGNC:600",
        "name": "apolipoprotein A1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/apoa1"
      },
      {
        "slug": "apob",
        "symbol": "APOB",
        "hgnc": "HGNC:603",
        "name": "apolipoprotein B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/apob"
      },
      {
        "slug": "ldlr",
        "symbol": "LDLR",
        "hgnc": "HGNC:6547",
        "name": "low density lipoprotein receptor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ldlr"
      },
      {
        "slug": "ldlrap1",
        "symbol": "LDLRAP1",
        "hgnc": "HGNC:18640",
        "name": "low density lipoprotein receptor adaptor protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ldlrap1"
      },
      {
        "slug": "pcsk9",
        "symbol": "PCSK9",
        "hgnc": "HGNC:20001",
        "name": "proprotein convertase subtilisin/kexin type 9",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pcsk9"
      },
      {
        "slug": "apoe",
        "symbol": "APOE",
        "hgnc": "HGNC:613",
        "name": "apolipoprotein E",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/apoe"
      },
      {
        "slug": "g6pc1",
        "symbol": "G6PC1",
        "hgnc": "HGNC:4056",
        "name": "glucose-6-phosphatase catalytic subunit 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/g6pc1"
      },
      {
        "slug": "notch3",
        "symbol": "NOTCH3",
        "hgnc": "HGNC:7883",
        "name": "notch receptor 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/notch3"
      },
      {
        "slug": "slc37a4",
        "symbol": "SLC37A4",
        "hgnc": "HGNC:4061",
        "name": "solute carrier family 37 member 4",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/slc37a4"
      },
      {
        "slug": "smpd1",
        "symbol": "SMPD1",
        "hgnc": "HGNC:11120",
        "name": "sphingomyelin phosphodiesterase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smpd1"
      }
    ]
  }
}