{
  "url": "https://dantelabs.com/traits/abnormal-cheek-morphology",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "abnormal-cheek-morphology",
    "id": "HP:0004426",
    "name": "Abnormality of the cheek",
    "label": "Abnormal cheek morphology",
    "definition": "An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. \"Buccal\" means relating to the cheek. The cheek is part of the midface",
    "synonyms": [
      "Abnormality of the cheeks",
      "Anomaly of the cheeks",
      "Deformity of the cheeks",
      "Malformation of the cheeks"
    ],
    "systems": [
      {
        "slug": "abnormality-of-head-or-neck",
        "name": "Abnormality of head or neck",
        "url": "https://dantelabs.com/traits/abnormality-of-head-or-neck"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-midface-morphology",
        "name": "Abnormality of the midface",
        "url": "https://dantelabs.com/traits/abnormal-midface-morphology"
      }
    ],
    "narrower": [
      {
        "slug": "full-cheeks",
        "name": "Full cheeks",
        "genes": 164,
        "url": "https://dantelabs.com/traits/full-cheeks"
      },
      {
        "slug": "premature-sagging-cheeks",
        "name": "Premature sagging cheeks",
        "genes": 6,
        "url": "https://dantelabs.com/traits/premature-sagging-cheeks"
      },
      {
        "slug": "sunken-cheeks",
        "name": "Sunken cheeks",
        "genes": 5,
        "url": "https://dantelabs.com/traits/sunken-cheeks"
      },
      {
        "slug": "abnormal-buccal-mucosa-morphology",
        "name": "Abnormality of cheek mucosa",
        "genes": 1,
        "url": "https://dantelabs.com/traits/abnormal-buccal-mucosa-morphology"
      },
      {
        "slug": "abnormal-periauricular-region-morphology",
        "name": "Abnormality of the region around the ear",
        "genes": 0,
        "url": "https://dantelabs.com/traits/abnormal-periauricular-region-morphology"
      }
    ],
    "genes": [
      {
        "slug": "atp6v0a2",
        "symbol": "ATP6V0A2",
        "hgnc": "HGNC:18481",
        "name": "ATPase H+ transporting V0 subunit a2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp6v0a2"
      },
      {
        "slug": "cyp26c1",
        "symbol": "CYP26C1",
        "hgnc": "HGNC:20577",
        "name": "cytochrome P450 family 26 subfamily C member 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cyp26c1"
      },
      {
        "slug": "lrp1",
        "symbol": "LRP1",
        "hgnc": "HGNC:6692",
        "name": "LDL receptor related protein 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lrp1"
      },
      {
        "slug": "efemp2",
        "symbol": "EFEMP2",
        "hgnc": "HGNC:3219",
        "name": "EGF-like fibulin extracellular matrix protein 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/efemp2"
      },
      {
        "slug": "fbln5",
        "symbol": "FBLN5",
        "hgnc": "HGNC:3602",
        "name": "fibulin 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbln5"
      },
      {
        "slug": "kat6b",
        "symbol": "KAT6B",
        "hgnc": "HGNC:17582",
        "name": "lysine acetyltransferase 6B",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kat6b"
      },
      {
        "slug": "ltbp1",
        "symbol": "LTBP1",
        "hgnc": "HGNC:6714",
        "name": "latent transforming growth factor beta binding protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ltbp1"
      }
    ]
  }
}