{
  "url": "https://dantelabs.com/traits/abnormal-thumb-morphology",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "abnormal-thumb-morphology",
    "id": "HP:0001172",
    "name": "Abnormality of the thumb",
    "label": "Abnormal thumb morphology",
    "definition": "An abnormal structure of the first digit of the hand.",
    "synonyms": [
      "Abnormality of the thumbs",
      "Thumb deformity"
    ],
    "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": "abnormal-finger-morphology",
        "name": "Abnormalities of the fingers",
        "url": "https://dantelabs.com/traits/abnormal-finger-morphology"
      }
    ],
    "narrower": [
      {
        "slug": "adducted-thumb",
        "name": "Inward turned thumb",
        "genes": 105,
        "url": "https://dantelabs.com/traits/adducted-thumb"
      },
      {
        "slug": "preaxial-hand-polydactyly",
        "name": "Extra thumb",
        "genes": 60,
        "url": "https://dantelabs.com/traits/preaxial-hand-polydactyly"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-thumb",
        "name": "Absent/small thumb",
        "genes": 19,
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-thumb"
      },
      {
        "slug": "long-thumb",
        "name": "Long thumb",
        "genes": 8,
        "url": "https://dantelabs.com/traits/long-thumb"
      },
      {
        "slug": "thumb-contracture",
        "name": "Thumb contracture",
        "genes": 5,
        "url": "https://dantelabs.com/traits/thumb-contracture"
      },
      {
        "slug": "deviation-of-the-thumb",
        "name": "Abnormal thumb placement",
        "genes": 1,
        "url": "https://dantelabs.com/traits/deviation-of-the-thumb"
      },
      {
        "slug": "abnormality-of-thumb-phalanx",
        "name": "Abnormality of the thumb bones",
        "genes": 1,
        "url": "https://dantelabs.com/traits/abnormality-of-thumb-phalanx"
      },
      {
        "slug": "abnormality-of-thumb-epiphysis",
        "name": "Abnormality of end part of thumb long bone",
        "genes": 0,
        "url": "https://dantelabs.com/traits/abnormality-of-thumb-epiphysis"
      }
    ],
    "genes": [
      {
        "slug": "sf3b4",
        "symbol": "SF3B4",
        "hgnc": "HGNC:10771",
        "name": "splicing factor 3b subunit 4",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sf3b4"
      },
      {
        "slug": "bmpr1b",
        "symbol": "BMPR1B",
        "hgnc": "HGNC:1077",
        "name": "bone morphogenetic protein receptor type 1B",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bmpr1b"
      },
      {
        "slug": "brca1",
        "symbol": "BRCA1",
        "hgnc": "HGNC:1100",
        "name": "BRCA1 DNA repair associated",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/brca1"
      },
      {
        "slug": "brca2",
        "symbol": "BRCA2",
        "hgnc": "HGNC:1101",
        "name": "BRCA2 DNA repair associated",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/brca2"
      },
      {
        "slug": "brip1",
        "symbol": "BRIP1",
        "hgnc": "HGNC:20473",
        "name": "BRCA1 interacting DNA helicase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/brip1"
      },
      {
        "slug": "ercc4",
        "symbol": "ERCC4",
        "hgnc": "HGNC:3436",
        "name": "ERCC excision repair 4, endonuclease catalytic subunit",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ercc4"
      },
      {
        "slug": "faap100",
        "symbol": "FAAP100",
        "hgnc": "HGNC:26171",
        "name": "FA core complex associated protein 100",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/faap100"
      },
      {
        "slug": "fanca",
        "symbol": "FANCA",
        "hgnc": "HGNC:3582",
        "name": "FA complementation group A",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fanca"
      },
      {
        "slug": "fancb",
        "symbol": "FANCB",
        "hgnc": "HGNC:3583",
        "name": "FA complementation group B",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancb"
      },
      {
        "slug": "fancc",
        "symbol": "FANCC",
        "hgnc": "HGNC:3584",
        "name": "FA complementation group C",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancc"
      },
      {
        "slug": "fancd2",
        "symbol": "FANCD2",
        "hgnc": "HGNC:3585",
        "name": "FA complementation group D2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancd2"
      },
      {
        "slug": "fance",
        "symbol": "FANCE",
        "hgnc": "HGNC:3586",
        "name": "FA complementation group E",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fance"
      },
      {
        "slug": "fancf",
        "symbol": "FANCF",
        "hgnc": "HGNC:3587",
        "name": "FA complementation group F",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancf"
      },
      {
        "slug": "fancg",
        "symbol": "FANCG",
        "hgnc": "HGNC:3588",
        "name": "FA complementation group G",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/fancg"
      },
      {
        "slug": "fanci",
        "symbol": "FANCI",
        "hgnc": "HGNC:25568",
        "name": "FA complementation group I",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fanci"
      },
      {
        "slug": "fancl",
        "symbol": "FANCL",
        "hgnc": "HGNC:20748",
        "name": "FA complementation group L",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancl"
      },
      {
        "slug": "fancm",
        "symbol": "FANCM",
        "hgnc": "HGNC:23168",
        "name": "FA complementation group M",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancm"
      },
      {
        "slug": "gdf5",
        "symbol": "GDF5",
        "hgnc": "HGNC:4220",
        "name": "growth differentiation factor 5",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gdf5"
      },
      {
        "slug": "lmbr1",
        "symbol": "LMBR1",
        "hgnc": "HGNC:13243",
        "name": "limb development membrane protein 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lmbr1"
      },
      {
        "slug": "mad2l2",
        "symbol": "MAD2L2",
        "hgnc": "HGNC:6764",
        "name": "mitotic arrest deficient 2 like 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mad2l2"
      },
      {
        "slug": "palb2",
        "symbol": "PALB2",
        "hgnc": "HGNC:26144",
        "name": "partner and localizer of BRCA2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/palb2"
      },
      {
        "slug": "rad51",
        "symbol": "RAD51",
        "hgnc": "HGNC:9817",
        "name": "RAD51 recombinase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rad51"
      },
      {
        "slug": "rad51c",
        "symbol": "RAD51C",
        "hgnc": "HGNC:9820",
        "name": "RAD51 paralog C",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rad51c"
      },
      {
        "slug": "rfwd3",
        "symbol": "RFWD3",
        "hgnc": "HGNC:25539",
        "name": "ring finger and WD repeat domain 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rfwd3"
      },
      {
        "slug": "sall4",
        "symbol": "SALL4",
        "hgnc": "HGNC:15924",
        "name": "spalt like transcription factor 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sall4"
      },
      {
        "slug": "shh",
        "symbol": "SHH",
        "hgnc": "HGNC:10848",
        "name": "sonic hedgehog signaling molecule",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/shh"
      },
      {
        "slug": "slx4",
        "symbol": "SLX4",
        "hgnc": "HGNC:23845",
        "name": "SLX4 structure-specific endonuclease subunit",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slx4"
      },
      {
        "slug": "ube2t",
        "symbol": "UBE2T",
        "hgnc": "HGNC:25009",
        "name": "ubiquitin conjugating enzyme E2 T",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ube2t"
      },
      {
        "slug": "xrcc2",
        "symbol": "XRCC2",
        "hgnc": "HGNC:12829",
        "name": "X-ray repair cross complementing 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/xrcc2"
      },
      {
        "slug": "acvr1",
        "symbol": "ACVR1",
        "hgnc": "HGNC:171",
        "name": "activin A receptor type 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acvr1"
      },
      {
        "slug": "clic2",
        "symbol": "CLIC2",
        "hgnc": "HGNC:2063",
        "name": "CLIC family member 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/clic2"
      },
      {
        "slug": "smoc1",
        "symbol": "SMOC1",
        "hgnc": "HGNC:20318",
        "name": "SPARC related modular calcium binding 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smoc1"
      },
      {
        "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": "fibp",
        "symbol": "FIBP",
        "hgnc": "HGNC:3705",
        "name": "FGF1 intracellular binding protein",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fibp"
      },
      {
        "slug": "med12",
        "symbol": "MED12",
        "hgnc": "HGNC:11957",
        "name": "mediator complex subunit 12",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/med12"
      },
      {
        "slug": "opa3",
        "symbol": "OPA3",
        "hgnc": "HGNC:8142",
        "name": "outer mitochondrial membrane lipid metabolism regulator OPA3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/opa3"
      },
      {
        "slug": "runx2",
        "symbol": "RUNX2",
        "hgnc": "HGNC:10472",
        "name": "RUNX family transcription factor 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/runx2"
      },
      {
        "slug": "sin3a",
        "symbol": "SIN3A",
        "hgnc": "HGNC:19353",
        "name": "SIN3 transcription regulator family member A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sin3a"
      },
      {
        "slug": "spart",
        "symbol": "SPART",
        "hgnc": "HGNC:18514",
        "name": "spartin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/spart"
      }
    ]
  }
}