{
  "url": "https://dantelabs.com/traits/emphysema",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "emphysema",
    "id": "HP:0002097",
    "name": "Emphysema",
    "synonyms": [
      "Pulmonary emphysema"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-respiratory-system",
        "name": "Abnormality of the respiratory system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-respiratory-system"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-lung-morphology",
        "name": "Abnormality of lung structure",
        "url": "https://dantelabs.com/traits/abnormal-lung-morphology"
      }
    ],
    "narrower": [
      {
        "slug": "pulmonary-bulla",
        "name": "Pulmonary bulla",
        "genes": 4,
        "url": "https://dantelabs.com/traits/pulmonary-bulla"
      },
      {
        "slug": "pulmonary-bleb",
        "name": "Pulmonary bleb",
        "genes": 3,
        "url": "https://dantelabs.com/traits/pulmonary-bleb"
      },
      {
        "slug": "interstitial-emphysema",
        "name": "Interstitial emphysema",
        "genes": 2,
        "url": "https://dantelabs.com/traits/interstitial-emphysema"
      },
      {
        "slug": "panacinar-emphysema",
        "name": "Panacinar emphysema",
        "genes": 1,
        "url": "https://dantelabs.com/traits/panacinar-emphysema"
      },
      {
        "slug": "paraseptal-emphysema",
        "name": "Paraseptal emphysema",
        "genes": 1,
        "url": "https://dantelabs.com/traits/paraseptal-emphysema"
      }
    ],
    "genes": [
      {
        "slug": "efemp2",
        "symbol": "EFEMP2",
        "hgnc": "HGNC:3219",
        "name": "EGF-like fibulin extracellular matrix protein 2",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/efemp2"
      },
      {
        "slug": "fbln5",
        "symbol": "FBLN5",
        "hgnc": "HGNC:3602",
        "name": "fibulin 5",
        "frequency": "obligate",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/fbln5"
      },
      {
        "slug": "fbn1",
        "symbol": "FBN1",
        "hgnc": "HGNC:3603",
        "name": "fibrillin 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/fbn1"
      },
      {
        "slug": "ltbp4",
        "symbol": "LTBP4",
        "hgnc": "HGNC:6717",
        "name": "latent transforming growth factor beta binding protein 4",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ltbp4"
      },
      {
        "slug": "col3a1",
        "symbol": "COL3A1",
        "hgnc": "HGNC:2201",
        "name": "collagen type III alpha 1 chain",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col3a1"
      },
      {
        "slug": "lmna",
        "symbol": "LMNA",
        "hgnc": "HGNC:6636",
        "name": "lamin A/C",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lmna"
      },
      {
        "slug": "ltbp1",
        "symbol": "LTBP1",
        "hgnc": "HGNC:6714",
        "name": "latent transforming growth factor beta binding protein 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ltbp1"
      },
      {
        "slug": "serpina1",
        "symbol": "SERPINA1",
        "hgnc": "HGNC:8941",
        "name": "serpin family A member 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/serpina1"
      },
      {
        "slug": "cdt1",
        "symbol": "CDT1",
        "hgnc": "HGNC:24576",
        "name": "chromatin licensing and DNA replication factor 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdt1"
      },
      {
        "slug": "eln",
        "symbol": "ELN",
        "hgnc": "HGNC:3327",
        "name": "elastin",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/eln"
      },
      {
        "slug": "gla",
        "symbol": "GLA",
        "hgnc": "HGNC:4296",
        "name": "galactosidase alpha",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gla"
      },
      {
        "slug": "gmnn",
        "symbol": "GMNN",
        "hgnc": "HGNC:17493",
        "name": "geminin DNA replication inhibitor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gmnn"
      },
      {
        "slug": "naf1",
        "symbol": "NAF1",
        "hgnc": "HGNC:25126",
        "name": "nuclear assembly factor 1 ribonucleoprotein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/naf1"
      },
      {
        "slug": "orc1",
        "symbol": "ORC1",
        "hgnc": "HGNC:8487",
        "name": "origin recognition complex subunit 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/orc1"
      },
      {
        "slug": "rhoh",
        "symbol": "RHOH",
        "hgnc": "HGNC:686",
        "name": "ras homolog family member H",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rhoh"
      },
      {
        "slug": "tsc1",
        "symbol": "TSC1",
        "hgnc": "HGNC:12362",
        "name": "TSC complex subunit 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tsc1"
      },
      {
        "slug": "tsc2",
        "symbol": "TSC2",
        "hgnc": "HGNC:12363",
        "name": "TSC complex subunit 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tsc2"
      },
      {
        "slug": "aldh18a1",
        "symbol": "ALDH18A1",
        "hgnc": "HGNC:9722",
        "name": "aldehyde dehydrogenase 18 family member A1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aldh18a1"
      },
      {
        "slug": "btnl2",
        "symbol": "BTNL2",
        "hgnc": "HGNC:1142",
        "name": "butyrophilin like 2",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/btnl2"
      },
      {
        "slug": "cftr",
        "symbol": "CFTR",
        "hgnc": "HGNC:1884",
        "name": "CF transmembrane conductance regulator",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cftr"
      },
      {
        "slug": "dnase1l3",
        "symbol": "DNASE1L3",
        "hgnc": "HGNC:2959",
        "name": "deoxyribonuclease 1L3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnase1l3"
      },
      {
        "slug": "dync2li1",
        "symbol": "DYNC2LI1",
        "hgnc": "HGNC:24595",
        "name": "dynein cytoplasmic 2 light intermediate chain 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dync2li1"
      },
      {
        "slug": "evc",
        "symbol": "EVC",
        "hgnc": "HGNC:3497",
        "name": "EvC ciliary complex subunit 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/evc"
      },
      {
        "slug": "evc2",
        "symbol": "EVC2",
        "hgnc": "HGNC:19747",
        "name": "EvC ciliary complex subunit 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/evc2"
      },
      {
        "slug": "gli1",
        "symbol": "GLI1",
        "hgnc": "HGNC:4317",
        "name": "GLI family zinc finger 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gli1"
      },
      {
        "slug": "hla-drb1",
        "symbol": "HLA-DRB1",
        "hgnc": "HGNC:4948",
        "name": "major histocompatibility complex, class II, DR beta 1",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/hla-drb1"
      },
      {
        "slug": "ipo8",
        "symbol": "IPO8",
        "hgnc": "HGNC:9853",
        "name": "importin 8",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ipo8"
      },
      {
        "slug": "ndufaf6",
        "symbol": "NDUFAF6",
        "hgnc": "HGNC:28625",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 6",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufaf6"
      },
      {
        "slug": "prkaca",
        "symbol": "PRKACA",
        "hgnc": "HGNC:9380",
        "name": "protein kinase cAMP-activated catalytic subunit alpha",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prkaca"
      },
      {
        "slug": "prkacb",
        "symbol": "PRKACB",
        "hgnc": "HGNC:9381",
        "name": "protein kinase cAMP-activated catalytic subunit beta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prkacb"
      },
      {
        "slug": "scnn1a",
        "symbol": "SCNN1A",
        "hgnc": "HGNC:10599",
        "name": "sodium channel epithelial 1 subunit alpha",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scnn1a"
      },
      {
        "slug": "scnn1b",
        "symbol": "SCNN1B",
        "hgnc": "HGNC:10600",
        "name": "sodium channel epithelial 1 subunit beta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scnn1b"
      },
      {
        "slug": "scnn1g",
        "symbol": "SCNN1G",
        "hgnc": "HGNC:10602",
        "name": "sodium channel epithelial 1 subunit gamma",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scnn1g"
      },
      {
        "slug": "son",
        "symbol": "SON",
        "hgnc": "HGNC:11183",
        "name": "SON DNA and RNA binding protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/son"
      },
      {
        "slug": "spink5",
        "symbol": "SPINK5",
        "hgnc": "HGNC:15464",
        "name": "serine peptidase inhibitor Kazal type 5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/spink5"
      },
      {
        "slug": "tgfb2",
        "symbol": "TGFB2",
        "hgnc": "HGNC:11768",
        "name": "transforming growth factor beta 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tgfb2"
      },
      {
        "slug": "atp6v0a2",
        "symbol": "ATP6V0A2",
        "hgnc": "HGNC:18481",
        "name": "ATPase H+ transporting V0 subunit a2",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/atp6v0a2"
      },
      {
        "slug": "atp6v1a",
        "symbol": "ATP6V1A",
        "hgnc": "HGNC:851",
        "name": "ATPase H+ transporting V1 subunit A",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp6v1a"
      },
      {
        "slug": "atp6v1e1",
        "symbol": "ATP6V1E1",
        "hgnc": "HGNC:857",
        "name": "ATPase H+ transporting V1 subunit E1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp6v1e1"
      },
      {
        "slug": "farsb",
        "symbol": "FARSB",
        "hgnc": "HGNC:17800",
        "name": "phenylalanyl-tRNA synthetase subunit beta",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/farsb"
      },
      {
        "slug": "foxn1",
        "symbol": "FOXN1",
        "hgnc": "HGNC:12765",
        "name": "forkhead box N1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/foxn1"
      },
      {
        "slug": "mgp",
        "symbol": "MGP",
        "hgnc": "HGNC:7060",
        "name": "matrix Gla protein",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mgp"
      },
      {
        "slug": "tap1",
        "symbol": "TAP1",
        "hgnc": "HGNC:43",
        "name": "transporter 1, ATP binding cassette subfamily B member",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tap1"
      }
    ]
  }
}