{
  "url": "https://dantelabs.com/traits/abnormal-skeletal-morphology",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "abnormal-skeletal-morphology",
    "id": "HP:0011842",
    "name": "Abnormally shaped skeletal",
    "label": "Abnormal skeletal morphology",
    "definition": "An abnormality of the form, structure, or size of the skeletal system.",
    "synonyms": [
      "Abnormality of skeletal morphology"
    ],
    "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": "abnormality-of-the-skeletal-system",
        "name": "Abnormality of the skeletal system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-skeletal-system"
      }
    ],
    "narrower": [
      {
        "slug": "skeletal-dysplasia",
        "name": "Abnormal skeletal development",
        "genes": 110,
        "url": "https://dantelabs.com/traits/skeletal-dysplasia"
      },
      {
        "slug": "dysostosis-multiplex",
        "name": "Dysostosis multiplex",
        "genes": 22,
        "url": "https://dantelabs.com/traits/dysostosis-multiplex"
      },
      {
        "slug": "neoplasm-of-the-skeletal-system",
        "name": "Skeletal tumor",
        "genes": 22,
        "url": "https://dantelabs.com/traits/neoplasm-of-the-skeletal-system"
      },
      {
        "slug": "hyperostosis",
        "name": "Bone overgrowth",
        "genes": 15,
        "url": "https://dantelabs.com/traits/hyperostosis"
      },
      {
        "slug": "abnormal-joint-morphology",
        "name": "Abnormal shape of joints",
        "genes": 12,
        "url": "https://dantelabs.com/traits/abnormal-joint-morphology"
      },
      {
        "slug": "abnormal-bone-structure",
        "name": "Abnormal bone structure",
        "genes": 10,
        "url": "https://dantelabs.com/traits/abnormal-bone-structure"
      },
      {
        "slug": "bone-fracture",
        "name": "Bone fracture",
        "genes": 10,
        "url": "https://dantelabs.com/traits/bone-fracture"
      },
      {
        "slug": "abnormal-cartilage-morphology",
        "name": "Abnormal shape of cartilage",
        "genes": 8,
        "url": "https://dantelabs.com/traits/abnormal-cartilage-morphology"
      },
      {
        "slug": "abnormal-tendon-morphology",
        "name": "Abnormal shape of tendon",
        "genes": 7,
        "url": "https://dantelabs.com/traits/abnormal-tendon-morphology"
      },
      {
        "slug": "hyperplastic-callus-formation",
        "name": "Hyperplastic callus formation",
        "genes": 5,
        "url": "https://dantelabs.com/traits/hyperplastic-callus-formation"
      },
      {
        "slug": "narrowing-of-medullary-canal",
        "name": "Narrowing of medullary canal",
        "genes": 2,
        "url": "https://dantelabs.com/traits/narrowing-of-medullary-canal"
      },
      {
        "slug": "abnormal-axial-skeleton-morphology",
        "name": "Abnormal axial skeleton morphology",
        "genes": 1,
        "url": "https://dantelabs.com/traits/abnormal-axial-skeleton-morphology"
      },
      {
        "slug": "abnormal-hyoid-bone-morphology",
        "name": "Abnormal hyoid bone morphology",
        "genes": 1,
        "url": "https://dantelabs.com/traits/abnormal-hyoid-bone-morphology"
      },
      {
        "slug": "abnormal-periosteum-morphology",
        "name": "Abnormal periosteum morphology",
        "genes": 1,
        "url": "https://dantelabs.com/traits/abnormal-periosteum-morphology"
      },
      {
        "slug": "abnormal-appendicular-skeleton-morphology",
        "name": "Abnormal appendicular skeleton morphology",
        "genes": 0,
        "url": "https://dantelabs.com/traits/abnormal-appendicular-skeleton-morphology"
      },
      {
        "slug": "abnormal-fetal-skeletal-morphology",
        "name": "Abnormal fetal skeletal morphology",
        "genes": 0,
        "url": "https://dantelabs.com/traits/abnormal-fetal-skeletal-morphology"
      },
      {
        "slug": "abnormal-growth-plate-morphology",
        "name": "Abnormal growth plate morphology",
        "genes": 0,
        "url": "https://dantelabs.com/traits/abnormal-growth-plate-morphology"
      },
      {
        "slug": "abnormal-nasal-skeleton-morphology",
        "name": "Abnormality of the nasal skeleton",
        "genes": 0,
        "url": "https://dantelabs.com/traits/abnormal-nasal-skeleton-morphology"
      },
      {
        "slug": "aplasia-hypoplasia-involving-the-skeleton",
        "name": "Absent/small skeleton",
        "genes": 0,
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-involving-the-skeleton"
      }
    ],
    "genes": [
      {
        "slug": "acta1",
        "symbol": "ACTA1",
        "hgnc": "HGNC:129",
        "name": "actin alpha 1, skeletal muscle",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/acta1"
      },
      {
        "slug": "aff4",
        "symbol": "AFF4",
        "hgnc": "HGNC:17869",
        "name": "ALF transcription elongation factor 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aff4"
      },
      {
        "slug": "aggf1",
        "symbol": "AGGF1",
        "hgnc": "HGNC:24684",
        "name": "angiogenic factor with G-patch and FHA domains 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aggf1"
      },
      {
        "slug": "man2b1",
        "symbol": "MAN2B1",
        "hgnc": "HGNC:6826",
        "name": "mannosidase alpha class 2B member 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/man2b1"
      },
      {
        "slug": "pigt",
        "symbol": "PIGT",
        "hgnc": "HGNC:14938",
        "name": "phosphatidylinositol glycan anchor biosynthesis class T",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pigt"
      },
      {
        "slug": "pik3ca",
        "symbol": "PIK3CA",
        "hgnc": "HGNC:8975",
        "name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pik3ca"
      },
      {
        "slug": "selenon",
        "symbol": "SELENON",
        "hgnc": "HGNC:15999",
        "name": "selenoprotein N",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/selenon"
      },
      {
        "slug": "vcp",
        "symbol": "VCP",
        "hgnc": "HGNC:12666",
        "name": "valosin containing protein",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vcp"
      },
      {
        "slug": "ahsg",
        "symbol": "AHSG",
        "hgnc": "HGNC:349",
        "name": "alpha 2-HS glycoprotein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ahsg"
      },
      {
        "slug": "ankrd11",
        "symbol": "ANKRD11",
        "hgnc": "HGNC:21316",
        "name": "ankyrin repeat domain 11",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ankrd11"
      },
      {
        "slug": "asah1",
        "symbol": "ASAH1",
        "hgnc": "HGNC:735",
        "name": "N-acylsphingosine amidohydrolase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/asah1"
      },
      {
        "slug": "chrng",
        "symbol": "CHRNG",
        "hgnc": "HGNC:1967",
        "name": "cholinergic receptor nicotinic gamma subunit",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chrng"
      },
      {
        "slug": "hacd1",
        "symbol": "HACD1",
        "hgnc": "HGNC:9639",
        "name": "3-hydroxyacyl-CoA dehydratase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hacd1"
      },
      {
        "slug": "hbb",
        "symbol": "HBB",
        "hgnc": "HGNC:4827",
        "name": "hemoglobin subunit beta",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/hbb"
      },
      {
        "slug": "itga7",
        "symbol": "ITGA7",
        "hgnc": "HGNC:6143",
        "name": "integrin subunit alpha 7",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/itga7"
      },
      {
        "slug": "itgb6",
        "symbol": "ITGB6",
        "hgnc": "HGNC:6161",
        "name": "integrin subunit beta 6",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/itgb6"
      },
      {
        "slug": "lss",
        "symbol": "LSS",
        "hgnc": "HGNC:6708",
        "name": "lanosterol synthase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lss"
      },
      {
        "slug": "map3k20",
        "symbol": "MAP3K20",
        "hgnc": "HGNC:17797",
        "name": "mitogen-activated protein kinase kinase kinase 20",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/map3k20"
      },
      {
        "slug": "myh3",
        "symbol": "MYH3",
        "hgnc": "HGNC:7573",
        "name": "myosin heavy chain 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myh3"
      },
      {
        "slug": "myl2",
        "symbol": "MYL2",
        "hgnc": "HGNC:7583",
        "name": "myosin light chain 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myl2"
      },
      {
        "slug": "puf60",
        "symbol": "PUF60",
        "hgnc": "HGNC:17042",
        "name": "poly(U) binding splicing factor 60",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/puf60"
      },
      {
        "slug": "snx14",
        "symbol": "SNX14",
        "hgnc": "HGNC:14977",
        "name": "sorting nexin 14",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/snx14"
      },
      {
        "slug": "tpm2",
        "symbol": "TPM2",
        "hgnc": "HGNC:12011",
        "name": "tropomyosin 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tpm2"
      },
      {
        "slug": "tpm3",
        "symbol": "TPM3",
        "hgnc": "HGNC:12012",
        "name": "tropomyosin 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tpm3"
      },
      {
        "slug": "alg11",
        "symbol": "ALG11",
        "hgnc": "HGNC:32456",
        "name": "ALG11 alpha-1,2-mannosyltransferase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/alg11"
      },
      {
        "slug": "pmm2",
        "symbol": "PMM2",
        "hgnc": "HGNC:9115",
        "name": "phosphomannomutase 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pmm2"
      },
      {
        "slug": "wdr26",
        "symbol": "WDR26",
        "hgnc": "HGNC:21208",
        "name": "WD repeat domain 26",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wdr26"
      }
    ]
  }
}