{
  "url": "https://dantelabs.com/traits/abnormal-cortical-bone-morphology",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "abnormal-cortical-bone-morphology",
    "id": "HP:0003103",
    "name": "Abnormal cortical bone morphology",
    "definition": "An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones.",
    "synonyms": [
      "Abnormal compact bone morphology",
      "Abnormality of cortical bone"
    ],
    "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-bone-structure",
        "name": "Abnormal bone structure",
        "url": "https://dantelabs.com/traits/abnormal-bone-structure"
      }
    ],
    "narrower": [
      {
        "slug": "thin-bony-cortex",
        "name": "Thin bony cortex",
        "genes": 24,
        "url": "https://dantelabs.com/traits/thin-bony-cortex"
      },
      {
        "slug": "cortical-sclerosis",
        "name": "Cortical sclerosis",
        "genes": 5,
        "url": "https://dantelabs.com/traits/cortical-sclerosis"
      },
      {
        "slug": "cortical-irregularity",
        "name": "Cortical irregularity",
        "genes": 2,
        "url": "https://dantelabs.com/traits/cortical-irregularity"
      },
      {
        "slug": "pseudo-fractures",
        "name": "Pseudo-fractures",
        "genes": 2,
        "url": "https://dantelabs.com/traits/pseudo-fractures"
      },
      {
        "slug": "thickened-cortex-of-bones",
        "name": "Thickened cortex of bones",
        "genes": 0,
        "url": "https://dantelabs.com/traits/thickened-cortex-of-bones"
      }
    ],
    "genes": [
      {
        "slug": "flna",
        "symbol": "FLNA",
        "hgnc": "HGNC:3754",
        "name": "filamin A",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/flna"
      },
      {
        "slug": "hpgd",
        "symbol": "HPGD",
        "hgnc": "HGNC:5154",
        "name": "15-hydroxyprostaglandin dehydrogenase",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/hpgd"
      },
      {
        "slug": "kif1a",
        "symbol": "KIF1A",
        "hgnc": "HGNC:888",
        "name": "kinesin family member 1A",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kif1a"
      },
      {
        "slug": "lemd3",
        "symbol": "LEMD3",
        "hgnc": "HGNC:28887",
        "name": "LEM domain containing 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lemd3"
      },
      {
        "slug": "lifr",
        "symbol": "LIFR",
        "hgnc": "HGNC:6597",
        "name": "LIF receptor subunit alpha",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lifr"
      },
      {
        "slug": "lrp4",
        "symbol": "LRP4",
        "hgnc": "HGNC:6696",
        "name": "LDL receptor related protein 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lrp4"
      },
      {
        "slug": "lrp5",
        "symbol": "LRP5",
        "hgnc": "HGNC:6697",
        "name": "LDL receptor related protein 5",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/lrp5"
      },
      {
        "slug": "ptdss1",
        "symbol": "PTDSS1",
        "hgnc": "HGNC:9587",
        "name": "phosphatidylserine synthase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ptdss1"
      },
      {
        "slug": "retreg1",
        "symbol": "RETREG1",
        "hgnc": "HGNC:25964",
        "name": "reticulophagy regulator 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/retreg1"
      },
      {
        "slug": "scn9a",
        "symbol": "SCN9A",
        "hgnc": "HGNC:10597",
        "name": "sodium voltage-gated channel alpha subunit 9",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scn9a"
      },
      {
        "slug": "slco2a1",
        "symbol": "SLCO2A1",
        "hgnc": "HGNC:10955",
        "name": "solute carrier organic anion transporter family member 2A1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slco2a1"
      },
      {
        "slug": "sost",
        "symbol": "SOST",
        "hgnc": "HGNC:13771",
        "name": "sclerostin",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/sost"
      },
      {
        "slug": "tbxas1",
        "symbol": "TBXAS1",
        "hgnc": "HGNC:11609",
        "name": "thromboxane A synthase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbxas1"
      },
      {
        "slug": "trpv4",
        "symbol": "TRPV4",
        "hgnc": "HGNC:18083",
        "name": "transient receptor potential cation channel subfamily V member 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trpv4"
      },
      {
        "slug": "wnk1",
        "symbol": "WNK1",
        "hgnc": "HGNC:14540",
        "name": "WNK lysine deficient protein kinase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wnk1"
      },
      {
        "slug": "aga",
        "symbol": "AGA",
        "hgnc": "HGNC:318",
        "name": "aspartylglucosaminidase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aga"
      },
      {
        "slug": "ankle2",
        "symbol": "ANKLE2",
        "hgnc": "HGNC:29101",
        "name": "ankyrin repeat and LEM domain containing 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ankle2"
      },
      {
        "slug": "aspm",
        "symbol": "ASPM",
        "hgnc": "HGNC:19048",
        "name": "assembly factor for spindle microtubules",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aspm"
      },
      {
        "slug": "cdk5rap2",
        "symbol": "CDK5RAP2",
        "hgnc": "HGNC:18672",
        "name": "CDK5 regulatory subunit associated protein 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdk5rap2"
      },
      {
        "slug": "cdk6",
        "symbol": "CDK6",
        "hgnc": "HGNC:1777",
        "name": "cyclin dependent kinase 6",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdk6"
      },
      {
        "slug": "cenpe",
        "symbol": "CENPE",
        "hgnc": "HGNC:1856",
        "name": "centromere protein E",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cenpe"
      },
      {
        "slug": "cep135",
        "symbol": "CEP135",
        "hgnc": "HGNC:29086",
        "name": "centrosomal protein 135",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cep135"
      },
      {
        "slug": "cep152",
        "symbol": "CEP152",
        "hgnc": "HGNC:29298",
        "name": "centrosomal protein 152",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cep152"
      },
      {
        "slug": "cit",
        "symbol": "CIT",
        "hgnc": "HGNC:1985",
        "name": "citron rho-interacting serine/threonine kinase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cit"
      },
      {
        "slug": "copb2",
        "symbol": "COPB2",
        "hgnc": "HGNC:2232",
        "name": "coat protein complex I subunit beta 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/copb2"
      },
      {
        "slug": "cpap",
        "symbol": "CPAP",
        "hgnc": "HGNC:17272",
        "name": "centrosome assembly and centriole elongation protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cpap"
      },
      {
        "slug": "gja1",
        "symbol": "GJA1",
        "hgnc": "HGNC:4274",
        "name": "gap junction protein alpha 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gja1"
      },
      {
        "slug": "gle1",
        "symbol": "GLE1",
        "hgnc": "HGNC:4315",
        "name": "GLE1 RNA export mediator",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gle1"
      },
      {
        "slug": "kif14",
        "symbol": "KIF14",
        "hgnc": "HGNC:19181",
        "name": "kinesin family member 14",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kif14"
      },
      {
        "slug": "knl1",
        "symbol": "KNL1",
        "hgnc": "HGNC:24054",
        "name": "kinetochore scaffold 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/knl1"
      },
      {
        "slug": "mcm7",
        "symbol": "MCM7",
        "hgnc": "HGNC:6950",
        "name": "minichromosome maintenance complex component 7",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mcm7"
      },
      {
        "slug": "mcph1",
        "symbol": "MCPH1",
        "hgnc": "HGNC:6954",
        "name": "microcephalin 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mcph1"
      },
      {
        "slug": "mettl5",
        "symbol": "METTL5",
        "hgnc": "HGNC:25006",
        "name": "methyltransferase 5, N6-adenosine",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mettl5"
      },
      {
        "slug": "mfsd2a",
        "symbol": "MFSD2A",
        "hgnc": "HGNC:25897",
        "name": "MFSD2 lysolipid transporter A, lysophospholipid",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mfsd2a"
      },
      {
        "slug": "ncapd3",
        "symbol": "NCAPD3",
        "hgnc": "HGNC:28952",
        "name": "non-SMC condensin II complex subunit D3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ncapd3"
      },
      {
        "slug": "nup37",
        "symbol": "NUP37",
        "hgnc": "HGNC:29929",
        "name": "nucleoporin 37",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nup37"
      },
      {
        "slug": "pdcd6ip",
        "symbol": "PDCD6IP",
        "hgnc": "HGNC:8766",
        "name": "programmed cell death 6 interacting protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdcd6ip"
      },
      {
        "slug": "phc1",
        "symbol": "PHC1",
        "hgnc": "HGNC:3182",
        "name": "polyhomeotic homolog 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/phc1"
      },
      {
        "slug": "pycr2",
        "symbol": "PYCR2",
        "hgnc": "HGNC:30262",
        "name": "pyrroline-5-carboxylate reductase 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pycr2"
      },
      {
        "slug": "sars1",
        "symbol": "SARS1",
        "hgnc": "HGNC:10537",
        "name": "seryl-tRNA synthetase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sars1"
      },
      {
        "slug": "sass6",
        "symbol": "SASS6",
        "hgnc": "HGNC:25403",
        "name": "SAS-6 centriolar assembly protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sass6"
      },
      {
        "slug": "stil",
        "symbol": "STIL",
        "hgnc": "HGNC:10879",
        "name": "STIL centriolar assembly protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stil"
      },
      {
        "slug": "taf13",
        "symbol": "TAF13",
        "hgnc": "HGNC:11546",
        "name": "TATA-box binding protein associated factor 13",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/taf13"
      },
      {
        "slug": "trappc10",
        "symbol": "TRAPPC10",
        "hgnc": "HGNC:11868",
        "name": "trafficking protein particle complex subunit 10",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trappc10"
      },
      {
        "slug": "trappc14",
        "symbol": "TRAPPC14",
        "hgnc": "HGNC:25604",
        "name": "trafficking protein particle complex subunit 14",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trappc14"
      },
      {
        "slug": "wars1",
        "symbol": "WARS1",
        "hgnc": "HGNC:12729",
        "name": "tryptophanyl-tRNA synthetase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wars1"
      },
      {
        "slug": "wdr62",
        "symbol": "WDR62",
        "hgnc": "HGNC:24502",
        "name": "WD repeat domain 62",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wdr62"
      },
      {
        "slug": "nsdhl",
        "symbol": "NSDHL",
        "hgnc": "HGNC:13398",
        "name": "NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nsdhl"
      },
      {
        "slug": "pex19",
        "symbol": "PEX19",
        "hgnc": "HGNC:9713",
        "name": "peroxisomal biogenesis factor 19",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex19"
      }
    ]
  }
}