{
  "url": "https://dantelabs.com/traits/abnormal-optic-nerve-morphology",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "abnormal-optic-nerve-morphology",
    "id": "HP:0000587",
    "name": "Optic nerve issue",
    "label": "Abnormal optic nerve morphology",
    "definition": "Abnormality of the optic nerve.",
    "synonyms": [
      "Abnormality of the optic nerve",
      "optic nerve abnormalities"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-fundus-morphology",
        "name": "Abnormal fundus morphology",
        "url": "https://dantelabs.com/traits/abnormal-fundus-morphology"
      }
    ],
    "narrower": [
      {
        "slug": "optic-neuropathy",
        "name": "Damaged optic nerve",
        "genes": 64,
        "url": "https://dantelabs.com/traits/optic-neuropathy"
      },
      {
        "slug": "abnormal-optic-disc-morphology",
        "name": "Abnormal optic disc morphology",
        "genes": 37,
        "url": "https://dantelabs.com/traits/abnormal-optic-disc-morphology"
      },
      {
        "slug": "optic-neuritis",
        "name": "Optic neuritis",
        "genes": 22,
        "url": "https://dantelabs.com/traits/optic-neuritis"
      },
      {
        "slug": "optic-nerve-compression",
        "name": "Optic nerve compression",
        "genes": 16,
        "url": "https://dantelabs.com/traits/optic-nerve-compression"
      },
      {
        "slug": "leber-optic-atrophy",
        "name": "Leber optic atrophy",
        "genes": 13,
        "url": "https://dantelabs.com/traits/leber-optic-atrophy"
      },
      {
        "slug": "optic-nerve-dysplasia",
        "name": "Optic nerve dysplasia",
        "genes": 11,
        "url": "https://dantelabs.com/traits/optic-nerve-dysplasia"
      },
      {
        "slug": "morning-glory-anomaly",
        "name": "Morning glory anomaly",
        "genes": 7,
        "url": "https://dantelabs.com/traits/morning-glory-anomaly"
      },
      {
        "slug": "optic-nerve-misrouting",
        "name": "Optic nerve misrouting",
        "genes": 5,
        "url": "https://dantelabs.com/traits/optic-nerve-misrouting"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-optic-nerve",
        "name": "Absent/small optic nerve",
        "genes": 2,
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-optic-nerve"
      },
      {
        "slug": "abnormal-optic-chiasm-morphology",
        "name": "Abnormal optic chiasm morphology",
        "genes": 1,
        "url": "https://dantelabs.com/traits/abnormal-optic-chiasm-morphology"
      },
      {
        "slug": "marcus-gunn-pupil",
        "name": "Marcus Gunn pupil",
        "genes": 1,
        "url": "https://dantelabs.com/traits/marcus-gunn-pupil"
      },
      {
        "slug": "optic-pit",
        "name": "Optic pit",
        "genes": 1,
        "url": "https://dantelabs.com/traits/optic-pit"
      }
    ],
    "genes": [
      {
        "slug": "b3galnt2",
        "symbol": "B3GALNT2",
        "hgnc": "HGNC:28596",
        "name": "beta-1,3-N-acetylgalactosaminyltransferase 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/b3galnt2"
      },
      {
        "slug": "b4gat1",
        "symbol": "B4GAT1",
        "hgnc": "HGNC:15685",
        "name": "beta-1,4-glucuronyltransferase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/b4gat1"
      },
      {
        "slug": "col4a1",
        "symbol": "COL4A1",
        "hgnc": "HGNC:2202",
        "name": "collagen type IV alpha 1 chain",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col4a1"
      },
      {
        "slug": "crppa",
        "symbol": "CRPPA",
        "hgnc": "HGNC:37276",
        "name": "CDP-L-ribitol pyrophosphorylase A",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/crppa"
      },
      {
        "slug": "dag1",
        "symbol": "DAG1",
        "hgnc": "HGNC:2666",
        "name": "dystroglycan 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dag1"
      },
      {
        "slug": "fancb",
        "symbol": "FANCB",
        "hgnc": "HGNC:3583",
        "name": "FA complementation group B",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancb"
      },
      {
        "slug": "fkrp",
        "symbol": "FKRP",
        "hgnc": "HGNC:17997",
        "name": "fukutin related protein",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fkrp"
      },
      {
        "slug": "fktn",
        "symbol": "FKTN",
        "hgnc": "HGNC:3622",
        "name": "fukutin",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fktn"
      },
      {
        "slug": "ggcx",
        "symbol": "GGCX",
        "hgnc": "HGNC:4247",
        "name": "gamma-glutamyl carboxylase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ggcx"
      },
      {
        "slug": "large1",
        "symbol": "LARGE1",
        "hgnc": "HGNC:6511",
        "name": "LARGE xylosyl- and glucuronyltransferase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/large1"
      },
      {
        "slug": "pomgnt1",
        "symbol": "POMGNT1",
        "hgnc": "HGNC:19139",
        "name": "protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomgnt1"
      },
      {
        "slug": "pomgnt2",
        "symbol": "POMGNT2",
        "hgnc": "HGNC:25902",
        "name": "protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomgnt2"
      },
      {
        "slug": "pomk",
        "symbol": "POMK",
        "hgnc": "HGNC:26267",
        "name": "protein O-mannose kinase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomk"
      },
      {
        "slug": "pomt1",
        "symbol": "POMT1",
        "hgnc": "HGNC:9202",
        "name": "protein O-mannosyltransferase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomt1"
      },
      {
        "slug": "pomt2",
        "symbol": "POMT2",
        "hgnc": "HGNC:19743",
        "name": "protein O-mannosyltransferase 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pomt2"
      },
      {
        "slug": "rxylt1",
        "symbol": "RXYLT1",
        "hgnc": "HGNC:13530",
        "name": "ribitol xylosyltransferase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rxylt1"
      },
      {
        "slug": "ube3b",
        "symbol": "UBE3B",
        "hgnc": "HGNC:13478",
        "name": "ubiquitin protein ligase E3B",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ube3b"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "hgnc": "HGNC:8768",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aifm1"
      },
      {
        "slug": "cyp1b1",
        "symbol": "CYP1B1",
        "hgnc": "HGNC:2597",
        "name": "cytochrome P450 family 1 subfamily B member 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cyp1b1"
      },
      {
        "slug": "efemp1",
        "symbol": "EFEMP1",
        "hgnc": "HGNC:3218",
        "name": "EGF-like fibulin extracellular matrix protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/efemp1"
      },
      {
        "slug": "gata2",
        "symbol": "GATA2",
        "hgnc": "HGNC:4171",
        "name": "GATA binding protein 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gata2"
      },
      {
        "slug": "iars2",
        "symbol": "IARS2",
        "hgnc": "HGNC:29685",
        "name": "isoleucyl-tRNA synthetase 2, mitochondrial",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/iars2"
      },
      {
        "slug": "myoc",
        "symbol": "MYOC",
        "hgnc": "HGNC:7610",
        "name": "myocilin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myoc"
      },
      {
        "slug": "tyr",
        "symbol": "TYR",
        "hgnc": "HGNC:12442",
        "name": "tyrosinase",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tyr"
      },
      {
        "slug": "ap1s2",
        "symbol": "AP1S2",
        "hgnc": "HGNC:560",
        "name": "adaptor related protein complex 1 subunit sigma 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ap1s2"
      },
      {
        "slug": "hnrnpk",
        "symbol": "HNRNPK",
        "hgnc": "HGNC:5044",
        "name": "heterogeneous nuclear ribonucleoprotein K",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/hnrnpk"
      },
      {
        "slug": "kif11",
        "symbol": "KIF11",
        "hgnc": "HGNC:6388",
        "name": "kinesin family member 11",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kif11"
      },
      {
        "slug": "myo5a",
        "symbol": "MYO5A",
        "hgnc": "HGNC:7602",
        "name": "myosin VA",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myo5a"
      },
      {
        "slug": "nf2",
        "symbol": "NF2",
        "hgnc": "HGNC:7773",
        "name": "NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nf2"
      },
      {
        "slug": "nod2",
        "symbol": "NOD2",
        "hgnc": "HGNC:5331",
        "name": "nucleotide binding oligomerization domain containing 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nod2"
      },
      {
        "slug": "pten",
        "symbol": "PTEN",
        "hgnc": "HGNC:9588",
        "name": "phosphatase and tensin homolog",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pten"
      },
      {
        "slug": "sh3tc2",
        "symbol": "SH3TC2",
        "hgnc": "HGNC:29427",
        "name": "SH3 domain and tetratricopeptide repeats 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sh3tc2"
      },
      {
        "slug": "asxl1",
        "symbol": "ASXL1",
        "hgnc": "HGNC:18318",
        "name": "ASXL transcriptional regulator 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/asxl1"
      }
    ]
  }
}