{
  "url": "https://dantelabs.com/traits/abnormal-shoulder-morphology",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "abnormal-shoulder-morphology",
    "id": "HP:0003043",
    "name": "Abnormality of the shoulder",
    "label": "Abnormal shoulder morphology",
    "definition": "An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula.",
    "synonyms": [],
    "systems": [
      {
        "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-appendicular-skeleton-morphology",
        "name": "Abnormal appendicular skeleton morphology",
        "url": "https://dantelabs.com/traits/abnormal-appendicular-skeleton-morphology"
      },
      {
        "slug": "abnormal-thorax-morphology",
        "name": "Abnormality of the chest",
        "url": "https://dantelabs.com/traits/abnormal-thorax-morphology"
      }
    ],
    "narrower": [
      {
        "slug": "down-sloping-shoulder",
        "name": "Rounded shoulders",
        "genes": 44,
        "url": "https://dantelabs.com/traits/down-sloping-shoulder"
      },
      {
        "slug": "shoulder-dislocation",
        "name": "Shoulder dislocation",
        "genes": 17,
        "url": "https://dantelabs.com/traits/shoulder-dislocation"
      },
      {
        "slug": "shoulder-contracture",
        "name": "Shoulder contracture",
        "genes": 6,
        "url": "https://dantelabs.com/traits/shoulder-contracture"
      },
      {
        "slug": "internally-rotated-shoulders",
        "name": "Internally rotated shoulders",
        "genes": 2,
        "url": "https://dantelabs.com/traits/internally-rotated-shoulders"
      },
      {
        "slug": "squared-off-shoulders",
        "name": "Squared off shoulders",
        "genes": 2,
        "url": "https://dantelabs.com/traits/squared-off-shoulders"
      },
      {
        "slug": "stippled-calcification-of-the-shoulder",
        "name": "Stippled calcification of the shoulder",
        "genes": 2,
        "url": "https://dantelabs.com/traits/stippled-calcification-of-the-shoulder"
      },
      {
        "slug": "scapulohumeral-synostosis",
        "name": "Fusion of shoulder blade to long bone in upper arm",
        "genes": 1,
        "url": "https://dantelabs.com/traits/scapulohumeral-synostosis"
      },
      {
        "slug": "abnormality-of-the-glenoid-fossa",
        "name": "Abnormality of the glenoid fossa",
        "genes": 0,
        "url": "https://dantelabs.com/traits/abnormality-of-the-glenoid-fossa"
      }
    ],
    "genes": [
      {
        "slug": "hhat",
        "symbol": "HHAT",
        "hgnc": "HGNC:18270",
        "name": "hedgehog acyltransferase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hhat"
      },
      {
        "slug": "gdf3",
        "symbol": "GDF3",
        "hgnc": "HGNC:4218",
        "name": "growth differentiation factor 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gdf3"
      },
      {
        "slug": "gdf6",
        "symbol": "GDF6",
        "hgnc": "HGNC:4221",
        "name": "growth differentiation factor 6",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gdf6"
      },
      {
        "slug": "meox1",
        "symbol": "MEOX1",
        "hgnc": "HGNC:7013",
        "name": "mesenchyme homeobox 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/meox1"
      },
      {
        "slug": "trappc2",
        "symbol": "TRAPPC2",
        "hgnc": "HGNC:23068",
        "name": "trafficking protein particle complex subunit 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trappc2"
      },
      {
        "slug": "ankrd55",
        "symbol": "ANKRD55",
        "hgnc": "HGNC:25681",
        "name": "ankyrin repeat domain 55",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ankrd55"
      },
      {
        "slug": "bcor",
        "symbol": "BCOR",
        "hgnc": "HGNC:20893",
        "name": "BCL6 corepressor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bcor"
      },
      {
        "slug": "ccn6",
        "symbol": "CCN6",
        "hgnc": "HGNC:12771",
        "name": "cellular communication network factor 6",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ccn6"
      },
      {
        "slug": "cd247",
        "symbol": "CD247",
        "hgnc": "HGNC:1677",
        "name": "CD247 molecule",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cd247"
      },
      {
        "slug": "il2ra",
        "symbol": "IL2RA",
        "hgnc": "HGNC:6008",
        "name": "interleukin 2 receptor subunit alpha",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/il2ra"
      },
      {
        "slug": "il2rb",
        "symbol": "IL2RB",
        "hgnc": "HGNC:6009",
        "name": "interleukin 2 receptor subunit beta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/il2rb"
      },
      {
        "slug": "naa10",
        "symbol": "NAA10",
        "hgnc": "HGNC:18704",
        "name": "N-alpha-acetyltransferase 10, NatA catalytic subunit",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/naa10"
      },
      {
        "slug": "prnp",
        "symbol": "PRNP",
        "hgnc": "HGNC:9449",
        "name": "prion protein (Kanno blood group)",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prnp"
      },
      {
        "slug": "ptpn2",
        "symbol": "PTPN2",
        "hgnc": "HGNC:9650",
        "name": "protein tyrosine phosphatase non-receptor type 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ptpn2"
      },
      {
        "slug": "ptpn22",
        "symbol": "PTPN22",
        "hgnc": "HGNC:9652",
        "name": "protein tyrosine phosphatase non-receptor type 22",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ptpn22"
      },
      {
        "slug": "rbm8a",
        "symbol": "RBM8A",
        "hgnc": "HGNC:9905",
        "name": "RNA binding motif protein 8A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rbm8a"
      },
      {
        "slug": "stat4",
        "symbol": "STAT4",
        "hgnc": "HGNC:11365",
        "name": "signal transducer and activator of transcription 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stat4"
      }
    ]
  }
}