{
  "url": "https://dantelabs.com/traits/neurofibroma",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "neurofibroma",
    "id": "HP:0001067",
    "name": "Neurofibroma",
    "definition": "A benign peripheral nerve sheath tumor that generally appears as a soft, skin-colored papule or small subcutaneous nodule. Individuals with neurofibromatosis can have numerous neurofibromas.",
    "synonyms": [
      "Neurofibromata",
      "Neurofibromatosis"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-integument",
        "name": "Abnormality of the integument",
        "url": "https://dantelabs.com/traits/abnormality-of-the-integument"
      },
      {
        "slug": "abnormality-of-the-nervous-system",
        "name": "Abnormality of the nervous system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system"
      },
      {
        "slug": "neoplasm",
        "name": "Abnormal tissue mass",
        "url": "https://dantelabs.com/traits/neoplasm"
      }
    ],
    "broader": [
      {
        "slug": "fibroma",
        "name": "Fibroma",
        "url": "https://dantelabs.com/traits/fibroma"
      },
      {
        "slug": "neoplasm-of-the-skin",
        "name": "Skin cancer",
        "url": "https://dantelabs.com/traits/neoplasm-of-the-skin"
      },
      {
        "slug": "neoplasm-of-the-peripheral-nervous-system",
        "name": "Tumor of the peripheral nervous system",
        "url": "https://dantelabs.com/traits/neoplasm-of-the-peripheral-nervous-system"
      }
    ],
    "narrower": [
      {
        "slug": "plexiform-neurofibroma",
        "name": "Plexiform neurofibroma",
        "genes": 2,
        "url": "https://dantelabs.com/traits/plexiform-neurofibroma"
      },
      {
        "slug": "atypical-neurofibromatosis",
        "name": "Atypical neurofibromatosis",
        "genes": 1,
        "url": "https://dantelabs.com/traits/atypical-neurofibromatosis"
      },
      {
        "slug": "multiple-intestinal-neurofibromatosis",
        "name": "Multiple intestinal neurofibromatosis",
        "genes": 1,
        "url": "https://dantelabs.com/traits/multiple-intestinal-neurofibromatosis"
      },
      {
        "slug": "neurofibroma-by-anatomical-location",
        "name": "Neurofibroma by anatomical location",
        "genes": 0,
        "url": "https://dantelabs.com/traits/neurofibroma-by-anatomical-location"
      }
    ],
    "genes": [
      {
        "slug": "nf1",
        "symbol": "NF1",
        "hgnc": "HGNC:7765",
        "name": "neurofibromin 1",
        "frequency": "frequent",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/nf1"
      },
      {
        "slug": "sufu",
        "symbol": "SUFU",
        "hgnc": "HGNC:16466",
        "name": "SUFU negative regulator of hedgehog signaling",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/sufu"
      },
      {
        "slug": "akt1",
        "symbol": "AKT1",
        "hgnc": "HGNC:391",
        "name": "AKT serine/threonine kinase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/akt1"
      },
      {
        "slug": "bap1",
        "symbol": "BAP1",
        "hgnc": "HGNC:950",
        "name": "BRCA1 associated deubiquitinase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bap1"
      },
      {
        "slug": "lrp1",
        "symbol": "LRP1",
        "hgnc": "HGNC:6692",
        "name": "LDL receptor related protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lrp1"
      },
      {
        "slug": "nf2",
        "symbol": "NF2",
        "hgnc": "HGNC:7773",
        "name": "NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/nf2"
      },
      {
        "slug": "pdgfb",
        "symbol": "PDGFB",
        "hgnc": "HGNC:8800",
        "name": "platelet derived growth factor subunit B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdgfb"
      },
      {
        "slug": "pik3ca",
        "symbol": "PIK3CA",
        "hgnc": "HGNC:8975",
        "name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pik3ca"
      },
      {
        "slug": "smarcb1",
        "symbol": "SMARCB1",
        "hgnc": "HGNC:11103",
        "name": "SWI/SNF related BAF chromatin remodeling complex subunit B1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smarcb1"
      },
      {
        "slug": "smarce1",
        "symbol": "SMARCE1",
        "hgnc": "HGNC:11109",
        "name": "SWI/SNF related BAF chromatin remodeling complex subunit E1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smarce1"
      },
      {
        "slug": "smo",
        "symbol": "SMO",
        "hgnc": "HGNC:11119",
        "name": "smoothened, frizzled class receptor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smo"
      },
      {
        "slug": "tert",
        "symbol": "TERT",
        "hgnc": "HGNC:11730",
        "name": "telomerase reverse transcriptase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tert"
      },
      {
        "slug": "traf7",
        "symbol": "TRAF7",
        "hgnc": "HGNC:20456",
        "name": "TNF receptor associated factor 7",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/traf7"
      },
      {
        "slug": "sptbn1",
        "symbol": "SPTBN1",
        "hgnc": "HGNC:11275",
        "name": "spectrin beta, non-erythrocytic 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sptbn1"
      },
      {
        "slug": "kit",
        "symbol": "KIT",
        "hgnc": "HGNC:6342",
        "name": "KIT proto-oncogene, receptor tyrosine kinase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kit"
      },
      {
        "slug": "sdhb",
        "symbol": "SDHB",
        "hgnc": "HGNC:10681",
        "name": "succinate dehydrogenase complex iron sulfur subunit B",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sdhb"
      },
      {
        "slug": "sdhc",
        "symbol": "SDHC",
        "hgnc": "HGNC:10682",
        "name": "succinate dehydrogenase complex subunit C",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sdhc"
      },
      {
        "slug": "spred1",
        "symbol": "SPRED1",
        "hgnc": "HGNC:20249",
        "name": "sprouty related EVH1 domain containing 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/spred1"
      }
    ]
  }
}