{
  "url": "https://dantelabs.com/traits/nephronophthisis",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "nephronophthisis",
    "id": "HP:0000090",
    "name": "Nephronophthisis",
    "definition": "Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis.",
    "synonyms": [
      "juvenile nephronophthisis"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-genitourinary-system",
        "name": "Abnormality of the genitourinary system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-genitourinary-system"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-renal-medulla-morphology",
        "name": "Abnormal renal medulla morphology",
        "url": "https://dantelabs.com/traits/abnormal-renal-medulla-morphology"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "cep83",
        "symbol": "CEP83",
        "hgnc": "HGNC:17966",
        "name": "centrosomal protein 83",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cep83"
      },
      {
        "slug": "fan1",
        "symbol": "FAN1",
        "hgnc": "HGNC:29170",
        "name": "FANCD2 and FANCI associated nuclease 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fan1"
      },
      {
        "slug": "ift140",
        "symbol": "IFT140",
        "hgnc": "HGNC:29077",
        "name": "intraflagellar transport 140",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ift140"
      },
      {
        "slug": "ift43",
        "symbol": "IFT43",
        "hgnc": "HGNC:29669",
        "name": "intraflagellar transport 43",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ift43"
      },
      {
        "slug": "mapkbp1",
        "symbol": "MAPKBP1",
        "hgnc": "HGNC:29536",
        "name": "mitogen-activated protein kinase binding protein 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mapkbp1"
      },
      {
        "slug": "nek8",
        "symbol": "NEK8",
        "hgnc": "HGNC:13387",
        "name": "NIMA related kinase 8",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/nek8"
      },
      {
        "slug": "nphp1",
        "symbol": "NPHP1",
        "hgnc": "HGNC:7905",
        "name": "nephrocystin 1",
        "frequency": "obligate",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/nphp1"
      },
      {
        "slug": "nphp3",
        "symbol": "NPHP3",
        "hgnc": "HGNC:7907",
        "name": "nephrocystin 3",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/nphp3"
      },
      {
        "slug": "rpgrip1l",
        "symbol": "RPGRIP1L",
        "hgnc": "HGNC:29168",
        "name": "RPGRIP1 like",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/rpgrip1l"
      },
      {
        "slug": "sdccag8",
        "symbol": "SDCCAG8",
        "hgnc": "HGNC:10671",
        "name": "SHH signaling and ciliogenesis regulator SDCCAG8",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/sdccag8"
      },
      {
        "slug": "tmem67",
        "symbol": "TMEM67",
        "hgnc": "HGNC:28396",
        "name": "transmembrane protein 67",
        "frequency": "obligate",
        "diseases": 5,
        "url": "https://dantelabs.com/genes/tmem67"
      },
      {
        "slug": "wdr19",
        "symbol": "WDR19",
        "hgnc": "HGNC:18340",
        "name": "WD repeat domain 19",
        "frequency": "obligate",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/wdr19"
      },
      {
        "slug": "xpnpep3",
        "symbol": "XPNPEP3",
        "hgnc": "HGNC:28052",
        "name": "X-prolyl aminopeptidase 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/xpnpep3"
      },
      {
        "slug": "cep164",
        "symbol": "CEP164",
        "hgnc": "HGNC:29182",
        "name": "centrosomal protein 164",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cep164"
      },
      {
        "slug": "ift54",
        "symbol": "IFT54",
        "hgnc": "HGNC:17861",
        "name": "intraflagellar transport 54",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ift54"
      },
      {
        "slug": "cep290",
        "symbol": "CEP290",
        "hgnc": "HGNC:29021",
        "name": "centrosomal protein 290",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cep290"
      },
      {
        "slug": "dcdc2",
        "symbol": "DCDC2",
        "hgnc": "HGNC:18141",
        "name": "doublecortin domain containing 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dcdc2"
      },
      {
        "slug": "invs",
        "symbol": "INVS",
        "hgnc": "HGNC:17870",
        "name": "inversin",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/invs"
      },
      {
        "slug": "iqcb1",
        "symbol": "IQCB1",
        "hgnc": "HGNC:28949",
        "name": "IQ motif containing B1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/iqcb1"
      },
      {
        "slug": "nphp4",
        "symbol": "NPHP4",
        "hgnc": "HGNC:19104",
        "name": "nephrocystin 4",
        "frequency": "frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/nphp4"
      },
      {
        "slug": "cep120",
        "symbol": "CEP120",
        "hgnc": "HGNC:26690",
        "name": "centrosomal protein 120",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cep120"
      },
      {
        "slug": "dync2h1",
        "symbol": "DYNC2H1",
        "hgnc": "HGNC:2962",
        "name": "dynein cytoplasmic 2 heavy chain 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dync2h1"
      },
      {
        "slug": "dync2i1",
        "symbol": "DYNC2I1",
        "hgnc": "HGNC:21862",
        "name": "dynein 2 intermediate chain 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dync2i1"
      },
      {
        "slug": "dync2i2",
        "symbol": "DYNC2I2",
        "hgnc": "HGNC:28296",
        "name": "dynein 2 intermediate chain 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dync2i2"
      },
      {
        "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": "ift172",
        "symbol": "IFT172",
        "hgnc": "HGNC:30391",
        "name": "intraflagellar transport 172",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ift172"
      },
      {
        "slug": "ift80",
        "symbol": "IFT80",
        "hgnc": "HGNC:29262",
        "name": "intraflagellar transport 80",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ift80"
      },
      {
        "slug": "kiaa0753",
        "symbol": "KIAA0753",
        "hgnc": "HGNC:29110",
        "name": "KIAA0753",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kiaa0753"
      },
      {
        "slug": "tmem138",
        "symbol": "TMEM138",
        "hgnc": "HGNC:26944",
        "name": "transmembrane protein 138",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem138"
      },
      {
        "slug": "trip11",
        "symbol": "TRIP11",
        "hgnc": "HGNC:12305",
        "name": "thyroid hormone receptor interactor 11",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trip11"
      },
      {
        "slug": "ttc21b",
        "symbol": "TTC21B",
        "hgnc": "HGNC:25660",
        "name": "tetratricopeptide repeat domain 21B",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ttc21b"
      },
      {
        "slug": "ahi1",
        "symbol": "AHI1",
        "hgnc": "HGNC:21575",
        "name": "Abelson helper integration site 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ahi1"
      },
      {
        "slug": "anks6",
        "symbol": "ANKS6",
        "hgnc": "HGNC:26724",
        "name": "ankyrin repeat and sterile alpha motif domain containing 6",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/anks6"
      },
      {
        "slug": "glis2",
        "symbol": "GLIS2",
        "hgnc": "HGNC:29450",
        "name": "GLIS family zinc finger 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/glis2"
      },
      {
        "slug": "tmem216",
        "symbol": "TMEM216",
        "hgnc": "HGNC:25018",
        "name": "transmembrane protein 216",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem216"
      },
      {
        "slug": "znf423",
        "symbol": "ZNF423",
        "hgnc": "HGNC:16762",
        "name": "zinc finger protein 423",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/znf423"
      }
    ]
  }
}