{
  "url": "https://dantelabs.com/traits/short-columella",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "short-columella",
    "id": "HP:0002000",
    "name": "Short columella",
    "definition": "Reduced distance from the anterior border of the naris to the subnasale.",
    "synonyms": [
      "Columella, short",
      "Decreased length of columella"
    ],
    "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-columella-morphology",
        "name": "Abnormal columella morphology",
        "url": "https://dantelabs.com/traits/abnormal-columella-morphology"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "asxl3",
        "symbol": "ASXL3",
        "hgnc": "HGNC:29357",
        "name": "ASXL transcriptional regulator 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/asxl3"
      },
      {
        "slug": "chst14",
        "symbol": "CHST14",
        "hgnc": "HGNC:24464",
        "name": "carbohydrate sulfotransferase 14",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chst14"
      },
      {
        "slug": "crebbp",
        "symbol": "CREBBP",
        "hgnc": "HGNC:2348",
        "name": "CREB binding lysine acetyltransferase",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/crebbp"
      },
      {
        "slug": "dnmt3a",
        "symbol": "DNMT3A",
        "hgnc": "HGNC:2978",
        "name": "DNA methyltransferase 3 alpha",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/dnmt3a"
      },
      {
        "slug": "elfn1",
        "symbol": "ELFN1",
        "hgnc": "HGNC:33154",
        "name": "extracellular leucine rich repeat and fibronectin type III domain containing 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/elfn1"
      },
      {
        "slug": "ep300",
        "symbol": "EP300",
        "hgnc": "HGNC:3373",
        "name": "EP300 lysine acetyltransferase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ep300"
      },
      {
        "slug": "nalcn",
        "symbol": "NALCN",
        "hgnc": "HGNC:19082",
        "name": "sodium leak channel, non-selective",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/nalcn"
      },
      {
        "slug": "taf4",
        "symbol": "TAF4",
        "hgnc": "HGNC:11537",
        "name": "TATA-box binding protein associated factor 4",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/taf4"
      },
      {
        "slug": "thoc2",
        "symbol": "THOC2",
        "hgnc": "HGNC:19073",
        "name": "THO complex subunit 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/thoc2"
      },
      {
        "slug": "actb",
        "symbol": "ACTB",
        "hgnc": "HGNC:132",
        "name": "actin beta",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/actb"
      },
      {
        "slug": "actg1",
        "symbol": "ACTG1",
        "hgnc": "HGNC:144",
        "name": "actin gamma 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/actg1"
      },
      {
        "slug": "b3glct",
        "symbol": "B3GLCT",
        "hgnc": "HGNC:20207",
        "name": "beta 3-glucosyltransferase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/b3glct"
      },
      {
        "slug": "kcnh1",
        "symbol": "KCNH1",
        "hgnc": "HGNC:6250",
        "name": "potassium voltage-gated channel subfamily H member 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kcnh1"
      },
      {
        "slug": "kdm6a",
        "symbol": "KDM6A",
        "hgnc": "HGNC:12637",
        "name": "lysine demethylase 6A",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/kdm6a"
      },
      {
        "slug": "kmt2d",
        "symbol": "KMT2D",
        "hgnc": "HGNC:7133",
        "name": "lysine methyltransferase 2D",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kmt2d"
      },
      {
        "slug": "ahdc1",
        "symbol": "AHDC1",
        "hgnc": "HGNC:25230",
        "name": "AT-hook DNA binding motif containing 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ahdc1"
      },
      {
        "slug": "arsl",
        "symbol": "ARSL",
        "hgnc": "HGNC:719",
        "name": "arylsulfatase L",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arsl"
      },
      {
        "slug": "kmt2a",
        "symbol": "KMT2A",
        "hgnc": "HGNC:7132",
        "name": "lysine methyltransferase 2A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kmt2a"
      },
      {
        "slug": "lmbr1",
        "symbol": "LMBR1",
        "hgnc": "HGNC:13243",
        "name": "limb development membrane protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lmbr1"
      },
      {
        "slug": "man2c1",
        "symbol": "MAN2C1",
        "hgnc": "HGNC:6827",
        "name": "mannosidase alpha class 2C member 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/man2c1"
      },
      {
        "slug": "mbd5",
        "symbol": "MBD5",
        "hgnc": "HGNC:20444",
        "name": "methyl-CpG binding domain protein 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mbd5"
      },
      {
        "slug": "nos3",
        "symbol": "NOS3",
        "hgnc": "HGNC:7876",
        "name": "nitric oxide synthase 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nos3"
      },
      {
        "slug": "ppp2r3c",
        "symbol": "PPP2R3C",
        "hgnc": "HGNC:17485",
        "name": "protein phosphatase 2 regulatory subunit B''gamma",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ppp2r3c"
      },
      {
        "slug": "twist1",
        "symbol": "TWIST1",
        "hgnc": "HGNC:12428",
        "name": "twist family bHLH transcription factor 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/twist1"
      },
      {
        "slug": "ctcf",
        "symbol": "CTCF",
        "hgnc": "HGNC:13723",
        "name": "CCCTC-binding factor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ctcf"
      },
      {
        "slug": "filip1",
        "symbol": "FILIP1",
        "hgnc": "HGNC:21015",
        "name": "filamin A interacting protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/filip1"
      },
      {
        "slug": "kctd1",
        "symbol": "KCTD1",
        "hgnc": "HGNC:18249",
        "name": "potassium channel tetramerization domain containing 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kctd1"
      },
      {
        "slug": "mab21l1",
        "symbol": "MAB21L1",
        "hgnc": "HGNC:6757",
        "name": "mab-21 like 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mab21l1"
      },
      {
        "slug": "naa10",
        "symbol": "NAA10",
        "hgnc": "HGNC:18704",
        "name": "N-alpha-acetyltransferase 10, NatA catalytic subunit",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/naa10"
      },
      {
        "slug": "scnm1",
        "symbol": "SCNM1",
        "hgnc": "HGNC:23136",
        "name": "sodium channel modifier 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scnm1"
      },
      {
        "slug": "cntnap2",
        "symbol": "CNTNAP2",
        "hgnc": "HGNC:13830",
        "name": "contactin associated protein 2",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cntnap2"
      },
      {
        "slug": "alx3",
        "symbol": "ALX3",
        "hgnc": "HGNC:449",
        "name": "ALX homeobox 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alx3"
      },
      {
        "slug": "cenpf",
        "symbol": "CENPF",
        "hgnc": "HGNC:1857",
        "name": "centromere protein F",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cenpf"
      },
      {
        "slug": "erf",
        "symbol": "ERF",
        "hgnc": "HGNC:3444",
        "name": "ETS2 repressor factor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/erf"
      },
      {
        "slug": "shh",
        "symbol": "SHH",
        "hgnc": "HGNC:10848",
        "name": "sonic hedgehog signaling molecule",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/shh"
      },
      {
        "slug": "thumpd1",
        "symbol": "THUMPD1",
        "hgnc": "HGNC:23807",
        "name": "THUMP domain 1 NAT10 acetyltransferase adaptor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/thumpd1"
      }
    ]
  }
}