{
  "url": "https://dantelabs.com/traits/short-humerus",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "short-humerus",
    "id": "HP:0005792",
    "name": "Short humerus",
    "definition": "Underdevelopment of the humerus.",
    "synonyms": [
      "Short long bone of upper arm",
      "Short upper arms",
      "Humeral hypoplasia",
      "Humeral shortening",
      "Hypoplastic humerus",
      "Short humeri"
    ],
    "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": "aplasia-hypoplasia-of-the-humerus",
        "name": "Absent/small long bone in upper arm",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-humerus"
      },
      {
        "slug": "short-long-bone",
        "name": "Short long bone",
        "url": "https://dantelabs.com/traits/short-long-bone"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "fzd2",
        "symbol": "FZD2",
        "hgnc": "HGNC:4040",
        "name": "frizzled class receptor 2",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/fzd2"
      },
      {
        "slug": "gnpnat1",
        "symbol": "GNPNAT1",
        "hgnc": "HGNC:19980",
        "name": "glucosamine-phosphate N-acetyltransferase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gnpnat1"
      },
      {
        "slug": "ift140",
        "symbol": "IFT140",
        "hgnc": "HGNC:29077",
        "name": "intraflagellar transport 140",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ift140"
      },
      {
        "slug": "ptbp1",
        "symbol": "PTBP1",
        "hgnc": "HGNC:9583",
        "name": "polypyrimidine tract binding protein 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ptbp1"
      },
      {
        "slug": "tnfrsf11b",
        "symbol": "TNFRSF11B",
        "hgnc": "HGNC:11909",
        "name": "TNF receptor superfamily member 11b",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tnfrsf11b"
      },
      {
        "slug": "lmbr1",
        "symbol": "LMBR1",
        "hgnc": "HGNC:13243",
        "name": "limb development membrane protein 1",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/lmbr1"
      },
      {
        "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": "faap100",
        "symbol": "FAAP100",
        "hgnc": "HGNC:26171",
        "name": "FA core complex associated protein 100",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/faap100"
      },
      {
        "slug": "gsc",
        "symbol": "GSC",
        "hgnc": "HGNC:4612",
        "name": "goosecoid homeobox",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gsc"
      },
      {
        "slug": "mthfs",
        "symbol": "MTHFS",
        "hgnc": "HGNC:7437",
        "name": "methenyltetrahydrofolate synthetase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mthfs"
      },
      {
        "slug": "pex5",
        "symbol": "PEX5",
        "hgnc": "HGNC:9719",
        "name": "peroxisomal biogenesis factor 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex5"
      },
      {
        "slug": "polr3a",
        "symbol": "POLR3A",
        "hgnc": "HGNC:30074",
        "name": "RNA polymerase III subunit A",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/polr3a"
      },
      {
        "slug": "tbx5",
        "symbol": "TBX5",
        "hgnc": "HGNC:11604",
        "name": "T-box transcription factor 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbx5"
      },
      {
        "slug": "kiaa0753",
        "symbol": "KIAA0753",
        "hgnc": "HGNC:29110",
        "name": "KIAA0753",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kiaa0753"
      },
      {
        "slug": "mysm1",
        "symbol": "MYSM1",
        "hgnc": "HGNC:29401",
        "name": "Myb like, SWIRM and MPN domains 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mysm1"
      },
      {
        "slug": "sall4",
        "symbol": "SALL4",
        "hgnc": "HGNC:15924",
        "name": "spalt like transcription factor 4",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/sall4"
      },
      {
        "slug": "tgds",
        "symbol": "TGDS",
        "hgnc": "HGNC:20324",
        "name": "TDP-glucose 4,6-dehydratase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tgds"
      },
      {
        "slug": "suclg1",
        "symbol": "SUCLG1",
        "hgnc": "HGNC:11449",
        "name": "succinate-CoA ligase GDP/ADP-forming subunit alpha",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/suclg1"
      },
      {
        "slug": "agps",
        "symbol": "AGPS",
        "hgnc": "HGNC:327",
        "name": "alkylglycerone phosphate synthase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/agps"
      },
      {
        "slug": "alg12",
        "symbol": "ALG12",
        "hgnc": "HGNC:19358",
        "name": "ALG12 alpha-1,6-mannosyltransferase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alg12"
      },
      {
        "slug": "atp7a",
        "symbol": "ATP7A",
        "hgnc": "HGNC:869",
        "name": "ATPase copper transporting alpha",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp7a"
      },
      {
        "slug": "ccn2",
        "symbol": "CCN2",
        "hgnc": "HGNC:2500",
        "name": "cellular communication network factor 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ccn2"
      },
      {
        "slug": "flna",
        "symbol": "FLNA",
        "hgnc": "HGNC:3754",
        "name": "filamin A",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/flna"
      },
      {
        "slug": "flnb",
        "symbol": "FLNB",
        "hgnc": "HGNC:3755",
        "name": "filamin B",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/flnb"
      },
      {
        "slug": "gdf5",
        "symbol": "GDF5",
        "hgnc": "HGNC:4220",
        "name": "growth differentiation factor 5",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gdf5"
      },
      {
        "slug": "gnpat",
        "symbol": "GNPAT",
        "hgnc": "HGNC:4416",
        "name": "glyceronephosphate O-acyltransferase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gnpat"
      },
      {
        "slug": "gpc6",
        "symbol": "GPC6",
        "hgnc": "HGNC:4454",
        "name": "glypican 6",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gpc6"
      },
      {
        "slug": "ift122",
        "symbol": "IFT122",
        "hgnc": "HGNC:13556",
        "name": "intraflagellar transport 122",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ift122"
      },
      {
        "slug": "ihh",
        "symbol": "IHH",
        "hgnc": "HGNC:5956",
        "name": "Indian hedgehog signaling molecule",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ihh"
      },
      {
        "slug": "lonp1",
        "symbol": "LONP1",
        "hgnc": "HGNC:9479",
        "name": "lon peptidase 1, mitochondrial",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lonp1"
      },
      {
        "slug": "nog",
        "symbol": "NOG",
        "hgnc": "HGNC:7866",
        "name": "noggin",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nog"
      },
      {
        "slug": "recql4",
        "symbol": "RECQL4",
        "hgnc": "HGNC:9949",
        "name": "RecQ like helicase 4",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/recql4"
      },
      {
        "slug": "rnu4atac",
        "symbol": "RNU4ATAC",
        "hgnc": "HGNC:34016",
        "name": "RNA, U4atac small nuclear",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu4atac"
      },
      {
        "slug": "snrpb",
        "symbol": "SNRPB",
        "hgnc": "HGNC:11153",
        "name": "small nuclear ribonucleoprotein polypeptides B and B1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/snrpb"
      },
      {
        "slug": "tbx3",
        "symbol": "TBX3",
        "hgnc": "HGNC:11602",
        "name": "T-box transcription factor 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbx3"
      },
      {
        "slug": "zic3",
        "symbol": "ZIC3",
        "hgnc": "HGNC:12874",
        "name": "Zic family zinc finger 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zic3"
      }
    ]
  }
}