{
  "url": "https://dantelabs.com/traits/absent-thumb",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "absent-thumb",
    "id": "HP:0009777",
    "name": "Absent thumb",
    "definition": "Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.",
    "synonyms": [
      "Absent thumbs",
      "Aplasia of the thumb",
      "Thumb aplasia"
    ],
    "systems": [
      {
        "slug": "abnormality-of-limbs",
        "name": "Abnormality of limbs",
        "url": "https://dantelabs.com/traits/abnormality-of-limbs"
      },
      {
        "slug": "abnormality-of-the-musculoskeletal-system",
        "name": "Abnormality of the musculoskeletal system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-musculoskeletal-system"
      }
    ],
    "broader": [
      {
        "slug": "finger-aplasia",
        "name": "Absent fingers",
        "url": "https://dantelabs.com/traits/finger-aplasia"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-thumb",
        "name": "Absent/small thumb",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-thumb"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "cul3",
        "symbol": "CUL3",
        "hgnc": "HGNC:2553",
        "name": "cullin 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cul3"
      },
      {
        "slug": "faap100",
        "symbol": "FAAP100",
        "hgnc": "HGNC:26171",
        "name": "FA core complex associated protein 100",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/faap100"
      },
      {
        "slug": "fancl",
        "symbol": "FANCL",
        "hgnc": "HGNC:20748",
        "name": "FA complementation group L",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancl"
      },
      {
        "slug": "fig4",
        "symbol": "FIG4",
        "hgnc": "HGNC:16873",
        "name": "FIG4 phosphoinositide 5-phosphatase",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/fig4"
      },
      {
        "slug": "palb2",
        "symbol": "PALB2",
        "hgnc": "HGNC:26144",
        "name": "partner and localizer of BRCA2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/palb2"
      },
      {
        "slug": "rad51",
        "symbol": "RAD51",
        "hgnc": "HGNC:9817",
        "name": "RAD51 recombinase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rad51"
      },
      {
        "slug": "rfwd3",
        "symbol": "RFWD3",
        "hgnc": "HGNC:25539",
        "name": "ring finger and WD repeat domain 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rfwd3"
      },
      {
        "slug": "ripk4",
        "symbol": "RIPK4",
        "hgnc": "HGNC:496",
        "name": "receptor interacting serine/threonine kinase 4",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ripk4"
      },
      {
        "slug": "rpl26",
        "symbol": "RPL26",
        "hgnc": "HGNC:10327",
        "name": "ribosomal protein L26",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/rpl26"
      },
      {
        "slug": "xrcc2",
        "symbol": "XRCC2",
        "hgnc": "HGNC:12829",
        "name": "X-ray repair cross complementing 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/xrcc2"
      },
      {
        "slug": "fancb",
        "symbol": "FANCB",
        "hgnc": "HGNC:3583",
        "name": "FA complementation group B",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancb"
      },
      {
        "slug": "ercc4",
        "symbol": "ERCC4",
        "hgnc": "HGNC:3436",
        "name": "ERCC excision repair 4, endonuclease catalytic subunit",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc4"
      },
      {
        "slug": "esco2",
        "symbol": "ESCO2",
        "hgnc": "HGNC:27230",
        "name": "establishment of sister chromatid cohesion N-acetyltransferase 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/esco2"
      },
      {
        "slug": "fancc",
        "symbol": "FANCC",
        "hgnc": "HGNC:3584",
        "name": "FA complementation group C",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancc"
      },
      {
        "slug": "fancf",
        "symbol": "FANCF",
        "hgnc": "HGNC:3587",
        "name": "FA complementation group F",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancf"
      },
      {
        "slug": "fanci",
        "symbol": "FANCI",
        "hgnc": "HGNC:25568",
        "name": "FA complementation group I",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fanci"
      },
      {
        "slug": "rad51c",
        "symbol": "RAD51C",
        "hgnc": "HGNC:9820",
        "name": "RAD51 paralog C",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rad51c"
      },
      {
        "slug": "recql4",
        "symbol": "RECQL4",
        "hgnc": "HGNC:9949",
        "name": "RecQ like helicase 4",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/recql4"
      },
      {
        "slug": "rspo2",
        "symbol": "RSPO2",
        "hgnc": "HGNC:28583",
        "name": "R-spondin 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rspo2"
      },
      {
        "slug": "sall4",
        "symbol": "SALL4",
        "hgnc": "HGNC:15924",
        "name": "spalt like transcription factor 4",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/sall4"
      },
      {
        "slug": "sf3b4",
        "symbol": "SF3B4",
        "hgnc": "HGNC:10771",
        "name": "splicing factor 3b subunit 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sf3b4"
      },
      {
        "slug": "tbx5",
        "symbol": "TBX5",
        "hgnc": "HGNC:11604",
        "name": "T-box transcription factor 5",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tbx5"
      },
      {
        "slug": "vac14",
        "symbol": "VAC14",
        "hgnc": "HGNC:25507",
        "name": "VAC14 component of PIKFYVE complex",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vac14"
      },
      {
        "slug": "ada2",
        "symbol": "ADA2",
        "hgnc": "HGNC:1839",
        "name": "adenosine deaminase 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ada2"
      },
      {
        "slug": "fancd2",
        "symbol": "FANCD2",
        "hgnc": "HGNC:3585",
        "name": "FA complementation group D2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancd2"
      },
      {
        "slug": "fgf10",
        "symbol": "FGF10",
        "hgnc": "HGNC:3666",
        "name": "fibroblast growth factor 10",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgf10"
      },
      {
        "slug": "fgfr2",
        "symbol": "FGFR2",
        "hgnc": "HGNC:3689",
        "name": "fibroblast growth factor receptor 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgfr2"
      },
      {
        "slug": "fgfr3",
        "symbol": "FGFR3",
        "hgnc": "HGNC:3690",
        "name": "fibroblast growth factor receptor 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgfr3"
      },
      {
        "slug": "gata1",
        "symbol": "GATA1",
        "hgnc": "HGNC:4170",
        "name": "GATA binding protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gata1"
      },
      {
        "slug": "heatr3",
        "symbol": "HEATR3",
        "hgnc": "HGNC:26087",
        "name": "HEAT repeat containing 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/heatr3"
      },
      {
        "slug": "lef1",
        "symbol": "LEF1",
        "hgnc": "HGNC:6551",
        "name": "lymphoid enhancer binding factor 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lef1"
      },
      {
        "slug": "psmd12",
        "symbol": "PSMD12",
        "hgnc": "HGNC:9557",
        "name": "proteasome 26S subunit, non-ATPase 12",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/psmd12"
      },
      {
        "slug": "rpl11",
        "symbol": "RPL11",
        "hgnc": "HGNC:10301",
        "name": "ribosomal protein L11",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rpl11"
      },
      {
        "slug": "rpl15",
        "symbol": "RPL15",
        "hgnc": "HGNC:10306",
        "name": "ribosomal protein L15",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rpl15"
      },
      {
        "slug": "rpl17",
        "symbol": "RPL17",
        "hgnc": "HGNC:10307",
        "name": "ribosomal protein L17",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rpl17"
      },
      {
        "slug": "rpl18",
        "symbol": "RPL18",
        "hgnc": "HGNC:10310",
        "name": "ribosomal protein L18",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rpl18"
      },
      {
        "slug": "rpl27",
        "symbol": "RPL27",
        "hgnc": "HGNC:10328",
        "name": "ribosomal protein L27",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rpl27"
      },
      {
        "slug": "rpl31",
        "symbol": "RPL31",
        "hgnc": "HGNC:10334",
        "name": "ribosomal protein L31",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rpl31"
      },
      {
        "slug": "rpl35",
        "symbol": "RPL35",
        "hgnc": "HGNC:10344",
        "name": "ribosomal protein L35",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rpl35"
      },
      {
        "slug": "rpl35a",
        "symbol": "RPL35A",
        "hgnc": "HGNC:10345",
        "name": "ribosomal protein L35a",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rpl35a"
      },
      {
        "slug": "rpl5",
        "symbol": "RPL5",
        "hgnc": "HGNC:10360",
        "name": "ribosomal protein L5",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rpl5"
      },
      {
        "slug": "rpl8",
        "symbol": "RPL8",
        "hgnc": "HGNC:10368",
        "name": "ribosomal protein L8",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rpl8"
      },
      {
        "slug": "rpl9",
        "symbol": "RPL9",
        "hgnc": "HGNC:10369",
        "name": "ribosomal protein L9",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rpl9"
      },
      {
        "slug": "rps10",
        "symbol": "RPS10",
        "hgnc": "HGNC:10383",
        "name": "ribosomal protein S10",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rps10"
      },
      {
        "slug": "rps15a",
        "symbol": "RPS15A",
        "hgnc": "HGNC:10389",
        "name": "ribosomal protein S15a",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rps15a"
      },
      {
        "slug": "rps17",
        "symbol": "RPS17",
        "hgnc": "HGNC:10397",
        "name": "ribosomal protein S17",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rps17"
      },
      {
        "slug": "rps19",
        "symbol": "RPS19",
        "hgnc": "HGNC:10402",
        "name": "ribosomal protein S19",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/rps19"
      },
      {
        "slug": "rps20",
        "symbol": "RPS20",
        "hgnc": "HGNC:10405",
        "name": "ribosomal protein S20",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rps20"
      },
      {
        "slug": "rps24",
        "symbol": "RPS24",
        "hgnc": "HGNC:10411",
        "name": "ribosomal protein S24",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rps24"
      },
      {
        "slug": "rps26",
        "symbol": "RPS26",
        "hgnc": "HGNC:10414",
        "name": "ribosomal protein S26",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rps26"
      },
      {
        "slug": "rps27",
        "symbol": "RPS27",
        "hgnc": "HGNC:10416",
        "name": "ribosomal protein S27",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rps27"
      },
      {
        "slug": "rps28",
        "symbol": "RPS28",
        "hgnc": "HGNC:10418",
        "name": "ribosomal protein S28",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rps28"
      },
      {
        "slug": "rps29",
        "symbol": "RPS29",
        "hgnc": "HGNC:10419",
        "name": "ribosomal protein S29",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rps29"
      },
      {
        "slug": "rps7",
        "symbol": "RPS7",
        "hgnc": "HGNC:10440",
        "name": "ribosomal protein S7",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rps7"
      },
      {
        "slug": "slx4",
        "symbol": "SLX4",
        "hgnc": "HGNC:23845",
        "name": "SLX4 structure-specific endonuclease subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slx4"
      },
      {
        "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": "tsr2",
        "symbol": "TSR2",
        "hgnc": "HGNC:25455",
        "name": "TSR2 ribosome maturation factor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tsr2"
      },
      {
        "slug": "donson",
        "symbol": "DONSON",
        "hgnc": "HGNC:2993",
        "name": "DNA replication fork stabilization factor DONSON",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/donson"
      },
      {
        "slug": "fanca",
        "symbol": "FANCA",
        "hgnc": "HGNC:3582",
        "name": "FA complementation group A",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fanca"
      },
      {
        "slug": "fance",
        "symbol": "FANCE",
        "hgnc": "HGNC:3586",
        "name": "FA complementation group E",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fance"
      }
    ]
  }
}