{
  "url": "https://dantelabs.com/traits/abnormal-thorax-morphology",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "abnormal-thorax-morphology",
    "id": "HP:0000765",
    "name": "Abnormality of the chest",
    "label": "Abnormal thorax morphology",
    "definition": "Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).",
    "synonyms": [
      "Abnormality of the thorax",
      "Structural abnormality of the chest wall"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-musculoskeletal-system",
        "name": "Abnormality of the musculoskeletal system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-musculoskeletal-system"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-axial-skeleton-morphology",
        "name": "Abnormal axial skeleton morphology",
        "url": "https://dantelabs.com/traits/abnormal-axial-skeleton-morphology"
      }
    ],
    "narrower": [
      {
        "slug": "abnormal-sternum-morphology",
        "name": "Abnormality of the sternum",
        "genes": 57,
        "url": "https://dantelabs.com/traits/abnormal-sternum-morphology"
      },
      {
        "slug": "short-thorax",
        "name": "Shorter than typical length between neck and abdomen",
        "genes": 51,
        "url": "https://dantelabs.com/traits/short-thorax"
      },
      {
        "slug": "thoracic-hypoplasia",
        "name": "Small chest",
        "genes": 47,
        "url": "https://dantelabs.com/traits/thoracic-hypoplasia"
      },
      {
        "slug": "abnormal-clavicle-morphology",
        "name": "Abnormal collarbone",
        "genes": 32,
        "url": "https://dantelabs.com/traits/abnormal-clavicle-morphology"
      },
      {
        "slug": "abnormal-shoulder-morphology",
        "name": "Abnormality of the shoulder",
        "genes": 17,
        "url": "https://dantelabs.com/traits/abnormal-shoulder-morphology"
      },
      {
        "slug": "abnormal-rib-cage-morphology",
        "name": "Abnormality of the rib cage",
        "genes": 11,
        "url": "https://dantelabs.com/traits/abnormal-rib-cage-morphology"
      },
      {
        "slug": "abnormal-thoracic-spine-morphology",
        "name": "Abnormal thoracic spine morphology",
        "genes": 2,
        "url": "https://dantelabs.com/traits/abnormal-thoracic-spine-morphology"
      },
      {
        "slug": "abnormal-scapula-morphology",
        "name": "Abnormality of the shoulder blade",
        "genes": 2,
        "url": "https://dantelabs.com/traits/abnormal-scapula-morphology"
      },
      {
        "slug": "aplasia-hypoplasia-involving-bones-of-the-thorax",
        "name": "Absent/small outermost thorax bone",
        "genes": 2,
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-involving-bones-of-the-thorax"
      },
      {
        "slug": "thoracoabdominal-wall-defect",
        "name": "Thoracoabdominal wall defect",
        "genes": 1,
        "url": "https://dantelabs.com/traits/thoracoabdominal-wall-defect"
      }
    ],
    "genes": [
      {
        "slug": "lmna",
        "symbol": "LMNA",
        "hgnc": "HGNC:6636",
        "name": "lamin A/C",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/lmna"
      },
      {
        "slug": "wrn",
        "symbol": "WRN",
        "hgnc": "HGNC:12791",
        "name": "WRN RecQ like helicase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wrn"
      },
      {
        "slug": "abca3",
        "symbol": "ABCA3",
        "hgnc": "HGNC:33",
        "name": "ATP binding cassette subfamily A member 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abca3"
      },
      {
        "slug": "acta1",
        "symbol": "ACTA1",
        "hgnc": "HGNC:129",
        "name": "actin alpha 1, skeletal muscle",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/acta1"
      },
      {
        "slug": "antxr1",
        "symbol": "ANTXR1",
        "hgnc": "HGNC:21014",
        "name": "ANTXR cell adhesion molecule 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/antxr1"
      },
      {
        "slug": "bap1",
        "symbol": "BAP1",
        "hgnc": "HGNC:950",
        "name": "BRCA1 associated deubiquitinase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bap1"
      },
      {
        "slug": "cplx1",
        "symbol": "CPLX1",
        "hgnc": "HGNC:2309",
        "name": "complexin 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cplx1"
      },
      {
        "slug": "ctbp1",
        "symbol": "CTBP1",
        "hgnc": "HGNC:2494",
        "name": "C-terminal binding protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ctbp1"
      },
      {
        "slug": "extl3",
        "symbol": "EXTL3",
        "hgnc": "HGNC:3518",
        "name": "exostosin like glycosyltransferase 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/extl3"
      },
      {
        "slug": "klhl40",
        "symbol": "KLHL40",
        "hgnc": "HGNC:30372",
        "name": "kelch like family member 40",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/klhl40"
      },
      {
        "slug": "klhl41",
        "symbol": "KLHL41",
        "hgnc": "HGNC:16905",
        "name": "kelch like family member 41",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/klhl41"
      },
      {
        "slug": "letm1",
        "symbol": "LETM1",
        "hgnc": "HGNC:6556",
        "name": "leucine zipper and EF-hand containing transmembrane protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/letm1"
      },
      {
        "slug": "lmod3",
        "symbol": "LMOD3",
        "hgnc": "HGNC:6649",
        "name": "leiomodin 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lmod3"
      },
      {
        "slug": "map2k2",
        "symbol": "MAP2K2",
        "hgnc": "HGNC:6842",
        "name": "mitogen-activated protein kinase kinase 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/map2k2"
      },
      {
        "slug": "neb",
        "symbol": "NEB",
        "hgnc": "HGNC:7720",
        "name": "nebulin",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/neb"
      },
      {
        "slug": "nelfa",
        "symbol": "NELFA",
        "hgnc": "HGNC:12768",
        "name": "negative elongation factor complex member A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nelfa"
      },
      {
        "slug": "nf1",
        "symbol": "NF1",
        "hgnc": "HGNC:7765",
        "name": "neurofibromin 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nf1"
      },
      {
        "slug": "notch3",
        "symbol": "NOTCH3",
        "hgnc": "HGNC:7883",
        "name": "notch receptor 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/notch3"
      },
      {
        "slug": "nsd2",
        "symbol": "NSD2",
        "hgnc": "HGNC:12766",
        "name": "nuclear receptor binding SET domain protein 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nsd2"
      },
      {
        "slug": "pdgfrb",
        "symbol": "PDGFRB",
        "hgnc": "HGNC:8804",
        "name": "platelet derived growth factor receptor beta",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdgfrb"
      },
      {
        "slug": "pigg",
        "symbol": "PIGG",
        "hgnc": "HGNC:25985",
        "name": "phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pigg"
      },
      {
        "slug": "sftpb",
        "symbol": "SFTPB",
        "hgnc": "HGNC:10801",
        "name": "surfactant protein B",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sftpb"
      },
      {
        "slug": "sftpc",
        "symbol": "SFTPC",
        "hgnc": "HGNC:10802",
        "name": "surfactant protein C",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sftpc"
      },
      {
        "slug": "slc9a6",
        "symbol": "SLC9A6",
        "hgnc": "HGNC:11079",
        "name": "solute carrier family 9 member A6",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc9a6"
      },
      {
        "slug": "tpm3",
        "symbol": "TPM3",
        "hgnc": "HGNC:12012",
        "name": "tropomyosin 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tpm3"
      },
      {
        "slug": "vdr",
        "symbol": "VDR",
        "hgnc": "HGNC:12679",
        "name": "vitamin D receptor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vdr"
      },
      {
        "slug": "abcc6",
        "symbol": "ABCC6",
        "hgnc": "HGNC:57",
        "name": "ATP binding cassette subfamily C member 6",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abcc6"
      },
      {
        "slug": "arvcf",
        "symbol": "ARVCF",
        "hgnc": "HGNC:728",
        "name": "ARVCF delta catenin family member",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/arvcf"
      },
      {
        "slug": "comt",
        "symbol": "COMT",
        "hgnc": "HGNC:2228",
        "name": "catechol-O-methyltransferase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/comt"
      },
      {
        "slug": "enpp1",
        "symbol": "ENPP1",
        "hgnc": "HGNC:3356",
        "name": "ectonucleotide pyrophosphatase/phosphodiesterase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/enpp1"
      },
      {
        "slug": "gdap1",
        "symbol": "GDAP1",
        "hgnc": "HGNC:15968",
        "name": "ganglioside induced differentiation associated protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gdap1"
      },
      {
        "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": "jmjd1c",
        "symbol": "JMJD1C",
        "hgnc": "HGNC:12313",
        "name": "jumonji domain containing 1C",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/jmjd1c"
      },
      {
        "slug": "maf",
        "symbol": "MAF",
        "hgnc": "HGNC:6776",
        "name": "MAF bZIP transcription factor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/maf"
      },
      {
        "slug": "mysm1",
        "symbol": "MYSM1",
        "hgnc": "HGNC:29401",
        "name": "Myb like, SWIRM and MPN domains 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mysm1"
      },
      {
        "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": "setbp1",
        "symbol": "SETBP1",
        "hgnc": "HGNC:15573",
        "name": "SET binding protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/setbp1"
      },
      {
        "slug": "sim1",
        "symbol": "SIM1",
        "hgnc": "HGNC:10882",
        "name": "SIM bHLH transcription factor 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sim1"
      },
      {
        "slug": "tbx1",
        "symbol": "TBX1",
        "hgnc": "HGNC:11592",
        "name": "T-box transcription factor 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbx1"
      },
      {
        "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": "zmpste24",
        "symbol": "ZMPSTE24",
        "hgnc": "HGNC:12877",
        "name": "zinc metallopeptidase STE24",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zmpste24"
      },
      {
        "slug": "cyp21a2",
        "symbol": "CYP21A2",
        "hgnc": "HGNC:2600",
        "name": "cytochrome P450 family 21 subfamily A member 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cyp21a2"
      },
      {
        "slug": "ebp",
        "symbol": "EBP",
        "hgnc": "HGNC:3133",
        "name": "EBP cholestenol delta-isomerase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ebp"
      },
      {
        "slug": "gja1",
        "symbol": "GJA1",
        "hgnc": "HGNC:4274",
        "name": "gap junction protein alpha 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gja1"
      },
      {
        "slug": "gle1",
        "symbol": "GLE1",
        "hgnc": "HGNC:4315",
        "name": "GLE1 RNA export mediator",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gle1"
      },
      {
        "slug": "sfrp4",
        "symbol": "SFRP4",
        "hgnc": "HGNC:10778",
        "name": "secreted frizzled related protein 4",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sfrp4"
      },
      {
        "slug": "slc17a5",
        "symbol": "SLC17A5",
        "hgnc": "HGNC:10933",
        "name": "solute carrier family 17 member 5",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc17a5"
      }
    ]
  }
}