{
  "url": "https://dantelabs.com/traits/preauricular-pit",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "preauricular-pit",
    "id": "HP:0004467",
    "name": "Pit in front of the ear",
    "label": "Preauricular pit",
    "definition": "Small indentation anterior to the insertion of the ear.",
    "synonyms": [
      "Ear pit",
      "Preauricular earpits",
      "Preauricular fistulas",
      "Preauricular pits",
      "Preauricular sinus"
    ],
    "systems": [
      {
        "slug": "abnormality-of-head-or-neck",
        "name": "Abnormality of head or neck",
        "url": "https://dantelabs.com/traits/abnormality-of-head-or-neck"
      },
      {
        "slug": "abnormality-of-the-integument",
        "name": "Abnormality of the integument",
        "url": "https://dantelabs.com/traits/abnormality-of-the-integument"
      }
    ],
    "broader": [
      {
        "slug": "periauricular-skin-pits",
        "name": "Pits around the ear",
        "url": "https://dantelabs.com/traits/periauricular-skin-pits"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "eya1",
        "symbol": "EYA1",
        "hgnc": "HGNC:3519",
        "name": "EYA transcriptional coactivator and phosphatase 1",
        "frequency": "obligate",
        "diseases": 5,
        "url": "https://dantelabs.com/genes/eya1"
      },
      {
        "slug": "fgfr2",
        "symbol": "FGFR2",
        "hgnc": "HGNC:3689",
        "name": "fibroblast growth factor receptor 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgfr2"
      },
      {
        "slug": "h4c9",
        "symbol": "H4C9",
        "hgnc": "HGNC:4793",
        "name": "H4 clustered histone 9",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/h4c9"
      },
      {
        "slug": "pax1",
        "symbol": "PAX1",
        "hgnc": "HGNC:8615",
        "name": "paired box 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pax1"
      },
      {
        "slug": "specc1l",
        "symbol": "SPECC1L",
        "hgnc": "HGNC:29022",
        "name": "sperm antigen with calponin homology and coiled-coil domains 1 like",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/specc1l"
      },
      {
        "slug": "stag2",
        "symbol": "STAG2",
        "hgnc": "HGNC:11355",
        "name": "STAG2 cohesin complex component",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stag2"
      },
      {
        "slug": "med12",
        "symbol": "MED12",
        "hgnc": "HGNC:11957",
        "name": "mediator complex subunit 12",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/med12"
      },
      {
        "slug": "ppp2r3c",
        "symbol": "PPP2R3C",
        "hgnc": "HGNC:17485",
        "name": "protein phosphatase 2 regulatory subunit B''gamma",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ppp2r3c"
      },
      {
        "slug": "six1",
        "symbol": "SIX1",
        "hgnc": "HGNC:10887",
        "name": "SIX homeobox 1",
        "frequency": "very-frequent",
        "diseases": 5,
        "url": "https://dantelabs.com/genes/six1"
      },
      {
        "slug": "six5",
        "symbol": "SIX5",
        "hgnc": "HGNC:10891",
        "name": "SIX homeobox 5",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/six5"
      },
      {
        "slug": "tfap2a",
        "symbol": "TFAP2A",
        "hgnc": "HGNC:11742",
        "name": "transcription factor AP-2 alpha",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tfap2a"
      },
      {
        "slug": "ank1",
        "symbol": "ANK1",
        "hgnc": "HGNC:492",
        "name": "ankyrin 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ank1"
      },
      {
        "slug": "b3glct",
        "symbol": "B3GLCT",
        "hgnc": "HGNC:20207",
        "name": "beta 3-glucosyltransferase",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/b3glct"
      },
      {
        "slug": "cited2",
        "symbol": "CITED2",
        "hgnc": "HGNC:1987",
        "name": "Cbp/p300 interacting transactivator with ED-rich tail 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cited2"
      },
      {
        "slug": "cplx1",
        "symbol": "CPLX1",
        "hgnc": "HGNC:2309",
        "name": "complexin 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cplx1"
      },
      {
        "slug": "ctbp1",
        "symbol": "CTBP1",
        "hgnc": "HGNC:2494",
        "name": "C-terminal binding protein 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ctbp1"
      },
      {
        "slug": "dicer1",
        "symbol": "DICER1",
        "hgnc": "HGNC:17098",
        "name": "dicer 1, ribonuclease III",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dicer1"
      },
      {
        "slug": "fgfrl1",
        "symbol": "FGFRL1",
        "hgnc": "HGNC:3693",
        "name": "fibroblast growth factor receptor like 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgfrl1"
      },
      {
        "slug": "flt4",
        "symbol": "FLT4",
        "hgnc": "HGNC:3767",
        "name": "fms related receptor tyrosine kinase 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/flt4"
      },
      {
        "slug": "gata4",
        "symbol": "GATA4",
        "hgnc": "HGNC:4173",
        "name": "GATA binding protein 4",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/gata4"
      },
      {
        "slug": "gata5",
        "symbol": "GATA5",
        "hgnc": "HGNC:15802",
        "name": "GATA binding protein 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gata5"
      },
      {
        "slug": "gata6",
        "symbol": "GATA6",
        "hgnc": "HGNC:4174",
        "name": "GATA binding protein 6",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/gata6"
      },
      {
        "slug": "gdf1",
        "symbol": "GDF1",
        "hgnc": "HGNC:4214",
        "name": "growth differentiation factor 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gdf1"
      },
      {
        "slug": "gja5",
        "symbol": "GJA5",
        "hgnc": "HGNC:4279",
        "name": "gap junction protein alpha 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gja5"
      },
      {
        "slug": "gsc",
        "symbol": "GSC",
        "hgnc": "HGNC:4612",
        "name": "goosecoid homeobox",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gsc"
      },
      {
        "slug": "hyal2",
        "symbol": "HYAL2",
        "hgnc": "HGNC:5321",
        "name": "hyaluronidase 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hyal2"
      },
      {
        "slug": "jag1",
        "symbol": "JAG1",
        "hgnc": "HGNC:6188",
        "name": "jagged canonical Notch ligand 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/jag1"
      },
      {
        "slug": "kdm6a",
        "symbol": "KDM6A",
        "hgnc": "HGNC:12637",
        "name": "lysine demethylase 6A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kdm6a"
      },
      {
        "slug": "kdr",
        "symbol": "KDR",
        "hgnc": "HGNC:6307",
        "name": "kinase insert domain receptor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kdr"
      },
      {
        "slug": "kmt2d",
        "symbol": "KMT2D",
        "hgnc": "HGNC:7133",
        "name": "lysine methyltransferase 2D",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/kmt2d"
      },
      {
        "slug": "letm1",
        "symbol": "LETM1",
        "hgnc": "HGNC:6556",
        "name": "leucine zipper and EF-hand containing transmembrane protein 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/letm1"
      },
      {
        "slug": "mitf",
        "symbol": "MITF",
        "hgnc": "HGNC:7105",
        "name": "melanocyte inducing transcription factor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mitf"
      },
      {
        "slug": "nelfa",
        "symbol": "NELFA",
        "hgnc": "HGNC:12768",
        "name": "negative elongation factor complex member A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nelfa"
      },
      {
        "slug": "nkx2-5",
        "symbol": "NKX2-5",
        "hgnc": "HGNC:2488",
        "name": "NK2 homeobox 5",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/nkx2-5"
      },
      {
        "slug": "nkx2-6",
        "symbol": "NKX2-6",
        "hgnc": "HGNC:32940",
        "name": "NK2 homeobox 6",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nkx2-6"
      },
      {
        "slug": "nphp3",
        "symbol": "NPHP3",
        "hgnc": "HGNC:7907",
        "name": "nephrocystin 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nphp3"
      },
      {
        "slug": "nsd2",
        "symbol": "NSD2",
        "hgnc": "HGNC:12766",
        "name": "nuclear receptor binding SET domain protein 2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/nsd2"
      },
      {
        "slug": "pigg",
        "symbol": "PIGG",
        "hgnc": "HGNC:25985",
        "name": "phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pigg"
      },
      {
        "slug": "tbx1",
        "symbol": "TBX1",
        "hgnc": "HGNC:11592",
        "name": "T-box transcription factor 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tbx1"
      },
      {
        "slug": "zfpm2",
        "symbol": "ZFPM2",
        "hgnc": "HGNC:16700",
        "name": "zinc finger protein, FOG family member 2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/zfpm2"
      },
      {
        "slug": "brpf1",
        "symbol": "BRPF1",
        "hgnc": "HGNC:14255",
        "name": "bromodomain and PHD finger containing 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/brpf1"
      },
      {
        "slug": "creld1",
        "symbol": "CRELD1",
        "hgnc": "HGNC:14630",
        "name": "CRELD disulfide isomerase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/creld1"
      },
      {
        "slug": "ednra",
        "symbol": "EDNRA",
        "hgnc": "HGNC:3179",
        "name": "endothelin receptor type A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ednra"
      },
      {
        "slug": "fbxo11",
        "symbol": "FBXO11",
        "hgnc": "HGNC:13590",
        "name": "F-box protein 11",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fbxo11"
      },
      {
        "slug": "flna",
        "symbol": "FLNA",
        "hgnc": "HGNC:3754",
        "name": "filamin A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/flna"
      },
      {
        "slug": "fryl",
        "symbol": "FRYL",
        "hgnc": "HGNC:29127",
        "name": "FRY like transcription coactivator",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fryl"
      },
      {
        "slug": "hk1",
        "symbol": "HK1",
        "hgnc": "HGNC:4922",
        "name": "hexokinase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hk1"
      },
      {
        "slug": "hnrnpk",
        "symbol": "HNRNPK",
        "hgnc": "HGNC:5044",
        "name": "heterogeneous nuclear ribonucleoprotein K",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/hnrnpk"
      },
      {
        "slug": "kat6a",
        "symbol": "KAT6A",
        "hgnc": "HGNC:13013",
        "name": "lysine acetyltransferase 6A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kat6a"
      },
      {
        "slug": "med16",
        "symbol": "MED16",
        "hgnc": "HGNC:17556",
        "name": "mediator complex subunit 16",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/med16"
      },
      {
        "slug": "mid1",
        "symbol": "MID1",
        "hgnc": "HGNC:7095",
        "name": "midline 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mid1"
      },
      {
        "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": "ppp1cb",
        "symbol": "PPP1CB",
        "hgnc": "HGNC:9282",
        "name": "protein phosphatase 1 catalytic subunit beta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ppp1cb"
      },
      {
        "slug": "rere",
        "symbol": "RERE",
        "hgnc": "HGNC:9965",
        "name": "arginine-glutamic acid dipeptide repeats",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rere"
      },
      {
        "slug": "sephs1",
        "symbol": "SEPHS1",
        "hgnc": "HGNC:19685",
        "name": "selenophosphate synthetase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sephs1"
      },
      {
        "slug": "setd5",
        "symbol": "SETD5",
        "hgnc": "HGNC:25566",
        "name": "SET domain containing 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/setd5"
      },
      {
        "slug": "trpm3",
        "symbol": "TRPM3",
        "hgnc": "HGNC:17992",
        "name": "transient receptor potential cation channel subfamily M member 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trpm3"
      },
      {
        "slug": "ube2a",
        "symbol": "UBE2A",
        "hgnc": "HGNC:12472",
        "name": "ubiquitin conjugating enzyme E2 A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ube2a"
      },
      {
        "slug": "wbp11",
        "symbol": "WBP11",
        "hgnc": "HGNC:16461",
        "name": "WW domain binding protein 11",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wbp11"
      },
      {
        "slug": "xylt2",
        "symbol": "XYLT2",
        "hgnc": "HGNC:15517",
        "name": "xylosyltransferase 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/xylt2"
      },
      {
        "slug": "znf462",
        "symbol": "ZNF462",
        "hgnc": "HGNC:21684",
        "name": "zinc finger protein 462",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/znf462"
      },
      {
        "slug": "eif2ak3",
        "symbol": "EIF2AK3",
        "hgnc": "HGNC:3255",
        "name": "eukaryotic translation initiation factor 2 alpha kinase 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/eif2ak3"
      },
      {
        "slug": "gpc3",
        "symbol": "GPC3",
        "hgnc": "HGNC:4451",
        "name": "glypican 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gpc3"
      },
      {
        "slug": "kcnj2",
        "symbol": "KCNJ2",
        "hgnc": "HGNC:6263",
        "name": "potassium inwardly rectifying channel subfamily J member 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnj2"
      },
      {
        "slug": "rab23",
        "symbol": "RAB23",
        "hgnc": "HGNC:14263",
        "name": "RAB23, member RAS oncogene family",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rab23"
      },
      {
        "slug": "sall1",
        "symbol": "SALL1",
        "hgnc": "HGNC:10524",
        "name": "spalt like transcription factor 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sall1"
      }
    ]
  }
}