{
  "url": "https://dantelabs.com/traits/amelogenesis-imperfecta",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "amelogenesis-imperfecta",
    "id": "HP:0000705",
    "name": "Amelogenesis imperfecta",
    "definition": "A developmental dysplasia of the dental enamel.",
    "synonyms": [],
    "systems": [
      {
        "slug": "abnormality-of-head-or-neck",
        "name": "Abnormality of head or neck",
        "url": "https://dantelabs.com/traits/abnormality-of-head-or-neck"
      },
      {
        "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-dental-enamel-morphology",
        "name": "Abnormal tooth enamel",
        "url": "https://dantelabs.com/traits/abnormal-dental-enamel-morphology"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "ambn",
        "symbol": "AMBN",
        "hgnc": "HGNC:452",
        "name": "ameloblastin",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ambn"
      },
      {
        "slug": "amtn",
        "symbol": "AMTN",
        "hgnc": "HGNC:33188",
        "name": "amelotin",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/amtn"
      },
      {
        "slug": "enam",
        "symbol": "ENAM",
        "hgnc": "HGNC:3344",
        "name": "enamelin",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/enam"
      },
      {
        "slug": "fam20a",
        "symbol": "FAM20A",
        "hgnc": "HGNC:23015",
        "name": "FAM20A golgi associated secretory pathway pseudokinase",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/fam20a"
      },
      {
        "slug": "klk4",
        "symbol": "KLK4",
        "hgnc": "HGNC:6365",
        "name": "kallikrein related peptidase 4",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/klk4"
      },
      {
        "slug": "lamb3",
        "symbol": "LAMB3",
        "hgnc": "HGNC:6490",
        "name": "laminin subunit beta 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lamb3"
      },
      {
        "slug": "mmp20",
        "symbol": "MMP20",
        "hgnc": "HGNC:7167",
        "name": "matrix metallopeptidase 20",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mmp20"
      },
      {
        "slug": "pex1",
        "symbol": "PEX1",
        "hgnc": "HGNC:8850",
        "name": "peroxisomal biogenesis factor 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex1"
      },
      {
        "slug": "pex6",
        "symbol": "PEX6",
        "hgnc": "HGNC:8859",
        "name": "peroxisomal biogenesis factor 6",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex6"
      },
      {
        "slug": "ptbp1",
        "symbol": "PTBP1",
        "hgnc": "HGNC:9583",
        "name": "polypyrimidine tract binding protein 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ptbp1"
      },
      {
        "slug": "slc10a7",
        "symbol": "SLC10A7",
        "hgnc": "HGNC:23088",
        "name": "solute carrier family 10 member 7",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc10a7"
      },
      {
        "slug": "slc24a4",
        "symbol": "SLC24A4",
        "hgnc": "HGNC:10978",
        "name": "solute carrier family 24 member 4",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc24a4"
      },
      {
        "slug": "smarcd2",
        "symbol": "SMARCD2",
        "hgnc": "HGNC:11107",
        "name": "SWI/SNF related BAF chromatin remodeling complex subunit D2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smarcd2"
      },
      {
        "slug": "sp6",
        "symbol": "SP6",
        "hgnc": "HGNC:14530",
        "name": "Sp6 transcription factor",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sp6"
      },
      {
        "slug": "stim1",
        "symbol": "STIM1",
        "hgnc": "HGNC:11386",
        "name": "stromal interaction molecule 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stim1"
      },
      {
        "slug": "cldn16",
        "symbol": "CLDN16",
        "hgnc": "HGNC:2037",
        "name": "claudin 16",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cldn16"
      },
      {
        "slug": "cnnm4",
        "symbol": "CNNM4",
        "hgnc": "HGNC:105",
        "name": "cyclin and CBS domain divalent metal cation transport mediator 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cnnm4"
      },
      {
        "slug": "rogdi",
        "symbol": "ROGDI",
        "hgnc": "HGNC:29478",
        "name": "rogdi atypical leucine zipper",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/rogdi"
      },
      {
        "slug": "slc13a5",
        "symbol": "SLC13A5",
        "hgnc": "HGNC:23089",
        "name": "solute carrier family 13 member 5",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/slc13a5"
      },
      {
        "slug": "orai1",
        "symbol": "ORAI1",
        "hgnc": "HGNC:25896",
        "name": "ORAI calcium release-activated calcium modulator 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/orai1"
      },
      {
        "slug": "satb1",
        "symbol": "SATB1",
        "hgnc": "HGNC:10541",
        "name": "SATB homeobox 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/satb1"
      },
      {
        "slug": "tmem165",
        "symbol": "TMEM165",
        "hgnc": "HGNC:30760",
        "name": "transmembrane protein 165",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem165"
      },
      {
        "slug": "cldn19",
        "symbol": "CLDN19",
        "hgnc": "HGNC:2040",
        "name": "claudin 19",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cldn19"
      },
      {
        "slug": "amelx",
        "symbol": "AMELX",
        "hgnc": "HGNC:461",
        "name": "amelogenin X-linked",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/amelx"
      },
      {
        "slug": "dlx3",
        "symbol": "DLX3",
        "hgnc": "HGNC:2916",
        "name": "distal-less homeobox 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dlx3"
      },
      {
        "slug": "dnajc21",
        "symbol": "DNAJC21",
        "hgnc": "HGNC:27030",
        "name": "DnaJ heat shock protein family (Hsp40) member C21",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnajc21"
      },
      {
        "slug": "gpr68",
        "symbol": "GPR68",
        "hgnc": "HGNC:4519",
        "name": "G protein-coupled receptor 68",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gpr68"
      },
      {
        "slug": "itgb6",
        "symbol": "ITGB6",
        "hgnc": "HGNC:6161",
        "name": "integrin subunit beta 6",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/itgb6"
      },
      {
        "slug": "lama3",
        "symbol": "LAMA3",
        "hgnc": "HGNC:6483",
        "name": "laminin subunit alpha 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lama3"
      },
      {
        "slug": "ltbp3",
        "symbol": "LTBP3",
        "hgnc": "HGNC:6716",
        "name": "latent transforming growth factor beta binding protein 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ltbp3"
      },
      {
        "slug": "odaph",
        "symbol": "ODAPH",
        "hgnc": "HGNC:26300",
        "name": "odontogenesis associated phosphoprotein",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/odaph"
      },
      {
        "slug": "relt",
        "symbol": "RELT",
        "hgnc": "HGNC:13764",
        "name": "RELT TNF receptor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/relt"
      },
      {
        "slug": "sack1h",
        "symbol": "SACK1H",
        "hgnc": "HGNC:24797",
        "name": "scaffolding CK1 anchoring protein H",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sack1h"
      },
      {
        "slug": "wdr72",
        "symbol": "WDR72",
        "hgnc": "HGNC:26790",
        "name": "WD repeat domain 72",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wdr72"
      }
    ]
  }
}