{
  "url": "https://dantelabs.com/traits/arrhinencephaly",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "arrhinencephaly",
    "id": "HP:0002139",
    "name": "Arrhinencephaly",
    "definition": "A defect of development of the brain characterized by congenital absence of the part of the brain that includes the olfactory bulbs, tracts, and other structures associated with the sense of smell.",
    "synonyms": [
      "Arhinencephaly"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-nervous-system",
        "name": "Abnormality of the nervous system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-forebrain-morphology",
        "name": "Abnormal shape of forebrain",
        "url": "https://dantelabs.com/traits/abnormal-forebrain-morphology"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "piga",
        "symbol": "PIGA",
        "hgnc": "HGNC:8957",
        "name": "phosphatidylinositol glycan anchor biosynthesis class A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/piga"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "hgnc": "HGNC:225",
        "name": "adenosine deaminase RNA specific",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adar"
      },
      {
        "slug": "ifih1",
        "symbol": "IFIH1",
        "hgnc": "HGNC:18873",
        "name": "interferon induced with helicase C domain 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ifih1"
      },
      {
        "slug": "lsm11",
        "symbol": "LSM11",
        "hgnc": "HGNC:30860",
        "name": "LSM11, U7 small nuclear RNA associated",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lsm11"
      },
      {
        "slug": "rnaseh2a",
        "symbol": "RNASEH2A",
        "hgnc": "HGNC:18518",
        "name": "ribonuclease H2 subunit A",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnaseh2a"
      },
      {
        "slug": "rnaseh2b",
        "symbol": "RNASEH2B",
        "hgnc": "HGNC:25671",
        "name": "ribonuclease H2 subunit B",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnaseh2b"
      },
      {
        "slug": "rnaseh2c",
        "symbol": "RNASEH2C",
        "hgnc": "HGNC:24116",
        "name": "ribonuclease H2 subunit C",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnaseh2c"
      },
      {
        "slug": "rnu7-1",
        "symbol": "RNU7-1",
        "hgnc": "HGNC:34033",
        "name": "RNA, U7 small nuclear 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu7-1"
      },
      {
        "slug": "samhd1",
        "symbol": "SAMHD1",
        "hgnc": "HGNC:15925",
        "name": "SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/samhd1"
      },
      {
        "slug": "trex1",
        "symbol": "TREX1",
        "hgnc": "HGNC:12269",
        "name": "three prime repair exonuclease 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trex1"
      },
      {
        "slug": "fig4",
        "symbol": "FIG4",
        "hgnc": "HGNC:16873",
        "name": "FIG4 phosphoinositide 5-phosphatase",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/fig4"
      },
      {
        "slug": "kif14",
        "symbol": "KIF14",
        "hgnc": "HGNC:19181",
        "name": "kinesin family member 14",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/kif14"
      },
      {
        "slug": "sf3b4",
        "symbol": "SF3B4",
        "hgnc": "HGNC:10771",
        "name": "splicing factor 3b subunit 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sf3b4"
      },
      {
        "slug": "vac14",
        "symbol": "VAC14",
        "hgnc": "HGNC:25507",
        "name": "VAC14 component of PIKFYVE complex",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vac14"
      },
      {
        "slug": "arvcf",
        "symbol": "ARVCF",
        "hgnc": "HGNC:728",
        "name": "ARVCF delta catenin family member",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arvcf"
      },
      {
        "slug": "chd7",
        "symbol": "CHD7",
        "hgnc": "HGNC:20626",
        "name": "chromodomain helicase DNA binding protein 7",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chd7"
      },
      {
        "slug": "comt",
        "symbol": "COMT",
        "hgnc": "HGNC:2228",
        "name": "catechol-O-methyltransferase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/comt"
      },
      {
        "slug": "cplane1",
        "symbol": "CPLANE1",
        "hgnc": "HGNC:25801",
        "name": "ciliogenesis and planar polarity effector complex subunit 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cplane1"
      },
      {
        "slug": "fancb",
        "symbol": "FANCB",
        "hgnc": "HGNC:3583",
        "name": "FA complementation group B",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancb"
      },
      {
        "slug": "fuz",
        "symbol": "FUZ",
        "hgnc": "HGNC:26219",
        "name": "fuzzy planar cell polarity protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fuz"
      },
      {
        "slug": "gp1bb",
        "symbol": "GP1BB",
        "hgnc": "HGNC:4440",
        "name": "glycoprotein Ib platelet subunit beta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gp1bb"
      },
      {
        "slug": "hira",
        "symbol": "HIRA",
        "hgnc": "HGNC:4916",
        "name": "histone cell cycle regulator",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hira"
      },
      {
        "slug": "hyls1",
        "symbol": "HYLS1",
        "hgnc": "HGNC:26558",
        "name": "HYLS1 centriolar and ciliogenesis associated",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/hyls1"
      },
      {
        "slug": "jmjd1c",
        "symbol": "JMJD1C",
        "hgnc": "HGNC:12313",
        "name": "jumonji domain containing 1C",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/jmjd1c"
      },
      {
        "slug": "kif7",
        "symbol": "KIF7",
        "hgnc": "HGNC:30497",
        "name": "kinesin family member 7",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kif7"
      },
      {
        "slug": "rreb1",
        "symbol": "RREB1",
        "hgnc": "HGNC:10449",
        "name": "ras responsive element binding protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rreb1"
      },
      {
        "slug": "sec24c",
        "symbol": "SEC24C",
        "hgnc": "HGNC:10705",
        "name": "SEC24 homolog C, COPII component",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sec24c"
      },
      {
        "slug": "smoc1",
        "symbol": "SMOC1",
        "hgnc": "HGNC:20318",
        "name": "SPARC related modular calcium binding 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smoc1"
      },
      {
        "slug": "tbx1",
        "symbol": "TBX1",
        "hgnc": "HGNC:11592",
        "name": "T-box transcription factor 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbx1"
      },
      {
        "slug": "tctn3",
        "symbol": "TCTN3",
        "hgnc": "HGNC:24519",
        "name": "tectonic family member 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tctn3"
      },
      {
        "slug": "ufd1",
        "symbol": "UFD1",
        "hgnc": "HGNC:12520",
        "name": "ubiquitin recognition factor in ER associated degradation 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ufd1"
      },
      {
        "slug": "vangl1",
        "symbol": "VANGL1",
        "hgnc": "HGNC:15512",
        "name": "VANGL planar cell polarity protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vangl1"
      },
      {
        "slug": "atp6v1b2",
        "symbol": "ATP6V1B2",
        "hgnc": "HGNC:854",
        "name": "ATPase H+ transporting V1 subunit B2",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp6v1b2"
      },
      {
        "slug": "gli3",
        "symbol": "GLI3",
        "hgnc": "HGNC:4319",
        "name": "GLI family zinc finger 3",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gli3"
      },
      {
        "slug": "tbc1d24",
        "symbol": "TBC1D24",
        "hgnc": "HGNC:29203",
        "name": "TBC1 domain family member 24",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbc1d24"
      }
    ]
  }
}