{
  "url": "https://dantelabs.com/traits/ectodermal-dysplasia",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "ectodermal-dysplasia",
    "id": "HP:0000968",
    "name": "Ectodermal dysplasia",
    "definition": "Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.",
    "synonyms": [],
    "systems": [
      {
        "slug": "abnormality-of-the-integument",
        "name": "Abnormality of the integument",
        "url": "https://dantelabs.com/traits/abnormality-of-the-integument"
      }
    ],
    "broader": [
      {
        "slug": "generalized-abnormality-of-skin",
        "name": "Generalized abnormality of skin",
        "url": "https://dantelabs.com/traits/generalized-abnormality-of-skin"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "cilk1",
        "symbol": "CILK1",
        "hgnc": "HGNC:21219",
        "name": "ciliogenesis associated kinase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cilk1"
      },
      {
        "slug": "edaradd",
        "symbol": "EDARADD",
        "hgnc": "HGNC:14341",
        "name": "EDAR associated via death domain",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/edaradd"
      },
      {
        "slug": "gtpbp2",
        "symbol": "GTPBP2",
        "hgnc": "HGNC:4670",
        "name": "GTP binding protein 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gtpbp2"
      },
      {
        "slug": "hoxc13",
        "symbol": "HOXC13",
        "hgnc": "HGNC:5125",
        "name": "homeobox C13",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hoxc13"
      },
      {
        "slug": "nectin1",
        "symbol": "NECTIN1",
        "hgnc": "HGNC:9706",
        "name": "nectin cell adhesion molecule 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/nectin1"
      },
      {
        "slug": "orai1",
        "symbol": "ORAI1",
        "hgnc": "HGNC:25896",
        "name": "ORAI calcium release-activated calcium modulator 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/orai1"
      },
      {
        "slug": "tp63",
        "symbol": "TP63",
        "hgnc": "HGNC:15979",
        "name": "tumor protein p63",
        "frequency": "obligate",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/tp63"
      },
      {
        "slug": "ikbkg",
        "symbol": "IKBKG",
        "hgnc": "HGNC:5961",
        "name": "inhibitor of nuclear factor kappa B kinase regulatory subunit gamma",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ikbkg"
      },
      {
        "slug": "itpr3",
        "symbol": "ITPR3",
        "hgnc": "HGNC:6182",
        "name": "inositol 1,4,5-trisphosphate receptor type 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/itpr3"
      },
      {
        "slug": "nfkbia",
        "symbol": "NFKBIA",
        "hgnc": "HGNC:7797",
        "name": "NFKB inhibitor alpha",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nfkbia"
      },
      {
        "slug": "wnt10a",
        "symbol": "WNT10A",
        "hgnc": "HGNC:13829",
        "name": "Wnt family member 10A",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/wnt10a"
      },
      {
        "slug": "aire",
        "symbol": "AIRE",
        "hgnc": "HGNC:360",
        "name": "autoimmune regulator",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aire"
      },
      {
        "slug": "kremen1",
        "symbol": "KREMEN1",
        "hgnc": "HGNC:17550",
        "name": "kringle containing transmembrane protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kremen1"
      },
      {
        "slug": "axin2",
        "symbol": "AXIN2",
        "hgnc": "HGNC:904",
        "name": "axin 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/axin2"
      },
      {
        "slug": "cdh3",
        "symbol": "CDH3",
        "hgnc": "HGNC:1762",
        "name": "cadherin 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdh3"
      },
      {
        "slug": "edar",
        "symbol": "EDAR",
        "hgnc": "HGNC:2895",
        "name": "ectodysplasin A receptor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/edar"
      },
      {
        "slug": "evc",
        "symbol": "EVC",
        "hgnc": "HGNC:3497",
        "name": "EvC ciliary complex subunit 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/evc"
      },
      {
        "slug": "evc2",
        "symbol": "EVC2",
        "hgnc": "HGNC:19747",
        "name": "EvC ciliary complex subunit 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/evc2"
      },
      {
        "slug": "gjb6",
        "symbol": "GJB6",
        "hgnc": "HGNC:4288",
        "name": "gap junction protein beta 6",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gjb6"
      },
      {
        "slug": "ift122",
        "symbol": "IFT122",
        "hgnc": "HGNC:13556",
        "name": "intraflagellar transport 122",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ift122"
      },
      {
        "slug": "ift43",
        "symbol": "IFT43",
        "hgnc": "HGNC:29669",
        "name": "intraflagellar transport 43",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ift43"
      },
      {
        "slug": "mbtps2",
        "symbol": "MBTPS2",
        "hgnc": "HGNC:15455",
        "name": "membrane bound transcription factor peptidase, site 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mbtps2"
      },
      {
        "slug": "nectin4",
        "symbol": "NECTIN4",
        "hgnc": "HGNC:19688",
        "name": "nectin cell adhesion molecule 4",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nectin4"
      },
      {
        "slug": "nlrp1",
        "symbol": "NLRP1",
        "hgnc": "HGNC:14374",
        "name": "NLR family pyrin domain containing 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nlrp1"
      },
      {
        "slug": "pkp1",
        "symbol": "PKP1",
        "hgnc": "HGNC:9023",
        "name": "plakophilin 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pkp1"
      },
      {
        "slug": "smarcad1",
        "symbol": "SMARCAD1",
        "hgnc": "HGNC:18398",
        "name": "SNF2 related chromatin remodeling ATPase with DExD box 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smarcad1"
      },
      {
        "slug": "wdr35",
        "symbol": "WDR35",
        "hgnc": "HGNC:29250",
        "name": "WD repeat domain 35",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wdr35"
      }
    ]
  }
}