{
  "url": "https://dantelabs.com/traits/nemaline-bodies",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "nemaline-bodies",
    "id": "HP:0003798",
    "name": "Nemaline bodies",
    "definition": "Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces.",
    "synonyms": [
      "Nemaline rods"
    ],
    "systems": [
      {
        "slug": "abnormal-cellular-phenotype",
        "name": "Abnormal cellular phenotype",
        "url": "https://dantelabs.com/traits/abnormal-cellular-phenotype"
      },
      {
        "slug": "abnormality-of-the-musculoskeletal-system",
        "name": "Abnormality of the musculoskeletal system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-musculoskeletal-system"
      }
    ],
    "broader": [
      {
        "slug": "muscle-fiber-cytoplasmatic-inclusion-bodies",
        "name": "Muscle fiber cytoplasmatic inclusion bodies",
        "url": "https://dantelabs.com/traits/muscle-fiber-cytoplasmatic-inclusion-bodies"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "acta1",
        "symbol": "ACTA1",
        "hgnc": "HGNC:129",
        "name": "actin alpha 1, skeletal muscle",
        "frequency": "obligate",
        "diseases": 8,
        "url": "https://dantelabs.com/genes/acta1"
      },
      {
        "slug": "ky",
        "symbol": "KY",
        "hgnc": "HGNC:26576",
        "name": "kyphoscoliosis peptidase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ky"
      },
      {
        "slug": "lmod3",
        "symbol": "LMOD3",
        "hgnc": "HGNC:6649",
        "name": "leiomodin 3",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/lmod3"
      },
      {
        "slug": "mypn",
        "symbol": "MYPN",
        "hgnc": "HGNC:23246",
        "name": "myopalladin",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/mypn"
      },
      {
        "slug": "ndufb3",
        "symbol": "NDUFB3",
        "hgnc": "HGNC:7698",
        "name": "NADH:ubiquinone oxidoreductase subunit B3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufb3"
      },
      {
        "slug": "neb",
        "symbol": "NEB",
        "hgnc": "HGNC:7720",
        "name": "nebulin",
        "frequency": "obligate",
        "diseases": 7,
        "url": "https://dantelabs.com/genes/neb"
      },
      {
        "slug": "rfc4",
        "symbol": "RFC4",
        "hgnc": "HGNC:9972",
        "name": "replication factor C subunit 4",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rfc4"
      },
      {
        "slug": "ryr1",
        "symbol": "RYR1",
        "hgnc": "HGNC:10483",
        "name": "ryanodine receptor 1",
        "frequency": "obligate",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/ryr1"
      },
      {
        "slug": "ryr3",
        "symbol": "RYR3",
        "hgnc": "HGNC:10485",
        "name": "ryanodine receptor 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ryr3"
      },
      {
        "slug": "tnnt1",
        "symbol": "TNNT1",
        "hgnc": "HGNC:11948",
        "name": "troponin T1, slow skeletal type",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/tnnt1"
      },
      {
        "slug": "kbtbd13",
        "symbol": "KBTBD13",
        "hgnc": "HGNC:37227",
        "name": "kelch repeat and BTB domain containing 13",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/kbtbd13"
      },
      {
        "slug": "klhl41",
        "symbol": "KLHL41",
        "hgnc": "HGNC:16905",
        "name": "kelch like family member 41",
        "frequency": "very-frequent",
        "diseases": 5,
        "url": "https://dantelabs.com/genes/klhl41"
      },
      {
        "slug": "tpm2",
        "symbol": "TPM2",
        "hgnc": "HGNC:12011",
        "name": "tropomyosin 2",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/tpm2"
      },
      {
        "slug": "tpm3",
        "symbol": "TPM3",
        "hgnc": "HGNC:12012",
        "name": "tropomyosin 3",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/tpm3"
      },
      {
        "slug": "cfl2",
        "symbol": "CFL2",
        "hgnc": "HGNC:1875",
        "name": "cofilin 2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cfl2"
      },
      {
        "slug": "cox11",
        "symbol": "COX11",
        "hgnc": "HGNC:2261",
        "name": "cytochrome c oxidase copper chaperone COX11",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cox11"
      },
      {
        "slug": "klhl40",
        "symbol": "KLHL40",
        "hgnc": "HGNC:30372",
        "name": "kelch like family member 40",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/klhl40"
      },
      {
        "slug": "adss1",
        "symbol": "ADSS1",
        "hgnc": "HGNC:20093",
        "name": "adenylosuccinate synthase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/adss1"
      },
      {
        "slug": "nefl",
        "symbol": "NEFL",
        "hgnc": "HGNC:7739",
        "name": "neurofilament light chain",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nefl"
      },
      {
        "slug": "pyroxd1",
        "symbol": "PYROXD1",
        "hgnc": "HGNC:26162",
        "name": "pyridine nucleotide-disulphide oxidoreductase domain 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pyroxd1"
      },
      {
        "slug": "myo18b",
        "symbol": "MYO18B",
        "hgnc": "HGNC:18150",
        "name": "myosin XVIIIB",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myo18b"
      }
    ]
  }
}