{
  "url": "https://dantelabs.com/traits/abnormal-helix-morphology",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "abnormal-helix-morphology",
    "id": "HP:0011039",
    "name": "Abnormal helix morphology",
    "definition": "An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe.",
    "synonyms": [
      "Abnormal helices",
      "Abnormality of the helix",
      "Helix abnormal"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-ear",
        "name": "Abnormality of the ear",
        "url": "https://dantelabs.com/traits/abnormality-of-the-ear"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-pinna-morphology",
        "name": "Abnormally shaped ears",
        "url": "https://dantelabs.com/traits/abnormal-pinna-morphology"
      }
    ],
    "narrower": [
      {
        "slug": "thickened-helices",
        "name": "Thickened helices",
        "genes": 55,
        "url": "https://dantelabs.com/traits/thickened-helices"
      },
      {
        "slug": "posterior-helix-pit",
        "name": "Indentation in back of outer ear",
        "genes": 7,
        "url": "https://dantelabs.com/traits/posterior-helix-pit"
      },
      {
        "slug": "prominent-ear-helix",
        "name": "Prominent ear helix",
        "genes": 7,
        "url": "https://dantelabs.com/traits/prominent-ear-helix"
      },
      {
        "slug": "hypoplastic-helices",
        "name": "Hypoplastic helices",
        "genes": 6,
        "url": "https://dantelabs.com/traits/hypoplastic-helices"
      },
      {
        "slug": "darwin-tubercle-of-helix",
        "name": "Darwin tubercle of helix",
        "genes": 4,
        "url": "https://dantelabs.com/traits/darwin-tubercle-of-helix"
      },
      {
        "slug": "thin-ear-helix",
        "name": "Thin ear helix",
        "genes": 4,
        "url": "https://dantelabs.com/traits/thin-ear-helix"
      },
      {
        "slug": "abnormality-of-the-crus-of-the-helix",
        "name": "Abnormality of the crus of the helix",
        "genes": 3,
        "url": "https://dantelabs.com/traits/abnormality-of-the-crus-of-the-helix"
      },
      {
        "slug": "cleft-helix",
        "name": "Cleft helix",
        "genes": 3,
        "url": "https://dantelabs.com/traits/cleft-helix"
      },
      {
        "slug": "abnormally-folded-helix",
        "name": "Abnormally folded helix",
        "genes": 2,
        "url": "https://dantelabs.com/traits/abnormally-folded-helix"
      },
      {
        "slug": "abnormal-incisura-morphology",
        "name": "Abnormal incisura morphology",
        "genes": 1,
        "url": "https://dantelabs.com/traits/abnormal-incisura-morphology"
      },
      {
        "slug": "long-hairs-growing-from-helix-of-pinna",
        "name": "Ear hair",
        "genes": 1,
        "url": "https://dantelabs.com/traits/long-hairs-growing-from-helix-of-pinna"
      },
      {
        "slug": "squared-superior-portion-of-helix",
        "name": "Squared superior portion of helix",
        "genes": 1,
        "url": "https://dantelabs.com/traits/squared-superior-portion-of-helix"
      }
    ],
    "genes": [
      {
        "slug": "map2k2",
        "symbol": "MAP2K2",
        "hgnc": "HGNC:6842",
        "name": "mitogen-activated protein kinase kinase 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/map2k2"
      },
      {
        "slug": "nf1",
        "symbol": "NF1",
        "hgnc": "HGNC:7765",
        "name": "neurofibromin 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nf1"
      },
      {
        "slug": "tcf4",
        "symbol": "TCF4",
        "hgnc": "HGNC:11634",
        "name": "transcription factor 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tcf4"
      },
      {
        "slug": "abca12",
        "symbol": "ABCA12",
        "hgnc": "HGNC:14637",
        "name": "ATP binding cassette subfamily A member 12",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abca12"
      },
      {
        "slug": "alox12b",
        "symbol": "ALOX12B",
        "hgnc": "HGNC:430",
        "name": "arachidonate 12-lipoxygenase, 12R type",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alox12b"
      },
      {
        "slug": "aloxe3",
        "symbol": "ALOXE3",
        "hgnc": "HGNC:13743",
        "name": "arachidonate epidermal lipoxygenase 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aloxe3"
      },
      {
        "slug": "asprv1",
        "symbol": "ASPRV1",
        "hgnc": "HGNC:26321",
        "name": "aspartic peptidase retroviral like 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/asprv1"
      },
      {
        "slug": "cyp4f22",
        "symbol": "CYP4F22",
        "hgnc": "HGNC:26820",
        "name": "cytochrome P450 family 4 subfamily F member 22",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cyp4f22"
      },
      {
        "slug": "gpc3",
        "symbol": "GPC3",
        "hgnc": "HGNC:4451",
        "name": "glypican 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gpc3"
      },
      {
        "slug": "gpc4",
        "symbol": "GPC4",
        "hgnc": "HGNC:4452",
        "name": "glypican 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gpc4"
      },
      {
        "slug": "lipn",
        "symbol": "LIPN",
        "hgnc": "HGNC:23452",
        "name": "lipase family member N",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lipn"
      },
      {
        "slug": "mark2",
        "symbol": "MARK2",
        "hgnc": "HGNC:3332",
        "name": "microtubule affinity regulating kinase 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mark2"
      },
      {
        "slug": "nipal4",
        "symbol": "NIPAL4",
        "hgnc": "HGNC:28018",
        "name": "NIPA like domain containing 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nipal4"
      },
      {
        "slug": "porcn",
        "symbol": "PORCN",
        "hgnc": "HGNC:17652",
        "name": "porcupine O-acyltransferase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/porcn"
      },
      {
        "slug": "sdr9c7",
        "symbol": "SDR9C7",
        "hgnc": "HGNC:29958",
        "name": "short chain dehydrogenase/reductase family 9C member 7",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sdr9c7"
      },
      {
        "slug": "setbp1",
        "symbol": "SETBP1",
        "hgnc": "HGNC:15573",
        "name": "SET binding protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/setbp1"
      },
      {
        "slug": "specc1l",
        "symbol": "SPECC1L",
        "hgnc": "HGNC:29022",
        "name": "sperm antigen with calponin homology and coiled-coil domains 1 like",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/specc1l"
      },
      {
        "slug": "sult2b1",
        "symbol": "SULT2B1",
        "hgnc": "HGNC:11459",
        "name": "sulfotransferase family 2B member 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sult2b1"
      },
      {
        "slug": "tgm1",
        "symbol": "TGM1",
        "hgnc": "HGNC:11777",
        "name": "transglutaminase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tgm1"
      },
      {
        "slug": "dsp",
        "symbol": "DSP",
        "hgnc": "HGNC:3052",
        "name": "desmoplakin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dsp"
      },
      {
        "slug": "jup",
        "symbol": "JUP",
        "hgnc": "HGNC:6207",
        "name": "junction plakoglobin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/jup"
      },
      {
        "slug": "ndp",
        "symbol": "NDP",
        "hgnc": "HGNC:7678",
        "name": "norrin cystine knot growth factor NDP",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndp"
      },
      {
        "slug": "nr2f1",
        "symbol": "NR2F1",
        "hgnc": "HGNC:7975",
        "name": "nuclear receptor subfamily 2 group F member 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nr2f1"
      },
      {
        "slug": "pex1",
        "symbol": "PEX1",
        "hgnc": "HGNC:8850",
        "name": "peroxisomal biogenesis factor 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex1"
      },
      {
        "slug": "pex2",
        "symbol": "PEX2",
        "hgnc": "HGNC:9717",
        "name": "peroxisomal biogenesis factor 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex2"
      },
      {
        "slug": "pex5",
        "symbol": "PEX5",
        "hgnc": "HGNC:9719",
        "name": "peroxisomal biogenesis factor 5",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex5"
      }
    ]
  }
}