{
  "url": "https://dantelabs.com/traits/abnormal-vertebral-morphology",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "abnormal-vertebral-morphology",
    "id": "HP:0003468",
    "name": "Abnormal vertebral morphology",
    "definition": "An abnormality of one or more of the vertebrae.",
    "synonyms": [
      "Abnormal vertebrae",
      "Abnormality of the vertebrae",
      "Vertebral anomalies"
    ],
    "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-vertebral-column",
        "name": "Abnormality of the vertebral column",
        "url": "https://dantelabs.com/traits/abnormality-of-the-vertebral-column"
      }
    ],
    "narrower": [
      {
        "slug": "abnormal-vertebral-body-morphology",
        "name": "Abnormal vertebral body morphology",
        "genes": 122,
        "url": "https://dantelabs.com/traits/abnormal-vertebral-body-morphology"
      },
      {
        "slug": "vertebral-segmentation-defect",
        "name": "Vertebral segmentation defect",
        "genes": 56,
        "url": "https://dantelabs.com/traits/vertebral-segmentation-defect"
      },
      {
        "slug": "vertebral-compression-fracture",
        "name": "Compression fracture of a vertebral body",
        "genes": 40,
        "url": "https://dantelabs.com/traits/vertebral-compression-fracture"
      },
      {
        "slug": "osteoporosis-of-vertebrae",
        "name": "Osteoporosis of vertebrae",
        "genes": 21,
        "url": "https://dantelabs.com/traits/osteoporosis-of-vertebrae"
      },
      {
        "slug": "abnormally-ossified-vertebrae",
        "name": "Abnormal bone maturation of vertebra",
        "genes": 14,
        "url": "https://dantelabs.com/traits/abnormally-ossified-vertebrae"
      },
      {
        "slug": "multiple-small-vertebral-fractures",
        "name": "Multiple small vertebral fractures",
        "genes": 3,
        "url": "https://dantelabs.com/traits/multiple-small-vertebral-fractures"
      },
      {
        "slug": "punctate-vertebral-calcifications",
        "name": "Punctate vertebral calcifications",
        "genes": 3,
        "url": "https://dantelabs.com/traits/punctate-vertebral-calcifications"
      },
      {
        "slug": "schmorl-s-node",
        "name": "Schmorl's node",
        "genes": 3,
        "url": "https://dantelabs.com/traits/schmorl-s-node"
      },
      {
        "slug": "abnormal-vertebral-epiphysis-morphology",
        "name": "Abnormal shape of the end part of the vertebra bone",
        "genes": 2,
        "url": "https://dantelabs.com/traits/abnormal-vertebral-epiphysis-morphology"
      },
      {
        "slug": "sclerotic-vertebral-body",
        "name": "Sclerotic vertebral body",
        "genes": 2,
        "url": "https://dantelabs.com/traits/sclerotic-vertebral-body"
      },
      {
        "slug": "vertebral-hyperostosis",
        "name": "Vertebral hyperostosis",
        "genes": 2,
        "url": "https://dantelabs.com/traits/vertebral-hyperostosis"
      },
      {
        "slug": "fractured-vertebra",
        "name": "Fractured vertebra",
        "genes": 1,
        "url": "https://dantelabs.com/traits/fractured-vertebra"
      },
      {
        "slug": "morbus-scheuermann",
        "name": "Morbus Scheuermann",
        "genes": 1,
        "url": "https://dantelabs.com/traits/morbus-scheuermann"
      },
      {
        "slug": "abnormal-number-of-vertebrae",
        "name": "Abnormal number of vertebrae",
        "genes": 0,
        "url": "https://dantelabs.com/traits/abnormal-number-of-vertebrae"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-vertebrae",
        "name": "Absent/small vertebrae",
        "genes": 0,
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-vertebrae"
      }
    ],
    "genes": [
      {
        "slug": "jkamp",
        "symbol": "JKAMP",
        "hgnc": "HGNC:20184",
        "name": "JNK1/MAPK8 associated membrane protein",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/jkamp"
      },
      {
        "slug": "tbxt",
        "symbol": "TBXT",
        "hgnc": "HGNC:11515",
        "name": "T-box transcription factor T",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbxt"
      },
      {
        "slug": "acvr1",
        "symbol": "ACVR1",
        "hgnc": "HGNC:171",
        "name": "activin A receptor type 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acvr1"
      },
      {
        "slug": "col11a2",
        "symbol": "COL11A2",
        "hgnc": "HGNC:2187",
        "name": "collagen type XI alpha 2 chain",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col11a2"
      },
      {
        "slug": "col2a1",
        "symbol": "COL2A1",
        "hgnc": "HGNC:2200",
        "name": "collagen type II alpha 1 chain",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/col2a1"
      },
      {
        "slug": "ctsa",
        "symbol": "CTSA",
        "hgnc": "HGNC:9251",
        "name": "cathepsin A",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ctsa"
      },
      {
        "slug": "fn1",
        "symbol": "FN1",
        "hgnc": "HGNC:3778",
        "name": "fibronectin 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fn1"
      },
      {
        "slug": "idua",
        "symbol": "IDUA",
        "hgnc": "HGNC:5391",
        "name": "alpha-L-iduronidase",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/idua"
      },
      {
        "slug": "aff4",
        "symbol": "AFF4",
        "hgnc": "HGNC:17869",
        "name": "ALF transcription elongation factor 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aff4"
      },
      {
        "slug": "cdon",
        "symbol": "CDON",
        "hgnc": "HGNC:17104",
        "name": "cell adhesion associated, oncogene regulated",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdon"
      },
      {
        "slug": "cplx1",
        "symbol": "CPLX1",
        "hgnc": "HGNC:2309",
        "name": "complexin 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cplx1"
      },
      {
        "slug": "cripto",
        "symbol": "CRIPTO",
        "hgnc": "HGNC:11701",
        "name": "cripto, EGF-CFC family member",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cripto"
      },
      {
        "slug": "ctbp1",
        "symbol": "CTBP1",
        "hgnc": "HGNC:2494",
        "name": "C-terminal binding protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ctbp1"
      },
      {
        "slug": "ddrgk1",
        "symbol": "DDRGK1",
        "hgnc": "HGNC:16110",
        "name": "DDRGK domain containing 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ddrgk1"
      },
      {
        "slug": "disp1",
        "symbol": "DISP1",
        "hgnc": "HGNC:19711",
        "name": "dispatched RND transporter family member 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/disp1"
      },
      {
        "slug": "dll1",
        "symbol": "DLL1",
        "hgnc": "HGNC:2908",
        "name": "delta like canonical Notch ligand 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/dll1"
      },
      {
        "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": "fgf8",
        "symbol": "FGF8",
        "hgnc": "HGNC:3686",
        "name": "fibroblast growth factor 8",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgf8"
      },
      {
        "slug": "foxh1",
        "symbol": "FOXH1",
        "hgnc": "HGNC:3814",
        "name": "forkhead box H1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/foxh1"
      },
      {
        "slug": "gas1",
        "symbol": "GAS1",
        "hgnc": "HGNC:4165",
        "name": "growth arrest specific 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gas1"
      },
      {
        "slug": "gli2",
        "symbol": "GLI2",
        "hgnc": "HGNC:4318",
        "name": "GLI family zinc finger 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gli2"
      },
      {
        "slug": "hibch",
        "symbol": "HIBCH",
        "hgnc": "HGNC:4908",
        "name": "3-hydroxyisobutyryl-CoA hydrolase",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/hibch"
      },
      {
        "slug": "letm1",
        "symbol": "LETM1",
        "hgnc": "HGNC:6556",
        "name": "leucine zipper and EF-hand containing transmembrane protein 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/letm1"
      },
      {
        "slug": "nelfa",
        "symbol": "NELFA",
        "hgnc": "HGNC:12768",
        "name": "negative elongation factor complex member A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nelfa"
      },
      {
        "slug": "nodal",
        "symbol": "NODAL",
        "hgnc": "HGNC:7865",
        "name": "nodal growth differentiation factor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nodal"
      },
      {
        "slug": "nsd2",
        "symbol": "NSD2",
        "hgnc": "HGNC:12766",
        "name": "nuclear receptor binding SET domain protein 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nsd2"
      },
      {
        "slug": "pigg",
        "symbol": "PIGG",
        "hgnc": "HGNC:25985",
        "name": "phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pigg"
      },
      {
        "slug": "ptch1",
        "symbol": "PTCH1",
        "hgnc": "HGNC:9585",
        "name": "patched 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ptch1"
      },
      {
        "slug": "shh",
        "symbol": "SHH",
        "hgnc": "HGNC:10848",
        "name": "sonic hedgehog signaling molecule",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/shh"
      },
      {
        "slug": "six3",
        "symbol": "SIX3",
        "hgnc": "HGNC:10889",
        "name": "SIX homeobox 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/six3"
      },
      {
        "slug": "stil",
        "symbol": "STIL",
        "hgnc": "HGNC:10879",
        "name": "STIL centriolar assembly protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stil"
      },
      {
        "slug": "tgif1",
        "symbol": "TGIF1",
        "hgnc": "HGNC:11776",
        "name": "TGFB induced factor homeobox 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tgif1"
      },
      {
        "slug": "zic2",
        "symbol": "ZIC2",
        "hgnc": "HGNC:12873",
        "name": "Zic family zinc finger 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zic2"
      },
      {
        "slug": "aga",
        "symbol": "AGA",
        "hgnc": "HGNC:318",
        "name": "aspartylglucosaminidase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aga"
      },
      {
        "slug": "ahi1",
        "symbol": "AHI1",
        "hgnc": "HGNC:21575",
        "name": "Abelson helper integration site 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ahi1"
      },
      {
        "slug": "cep120",
        "symbol": "CEP120",
        "hgnc": "HGNC:26690",
        "name": "centrosomal protein 120",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cep120"
      },
      {
        "slug": "cep41",
        "symbol": "CEP41",
        "hgnc": "HGNC:12370",
        "name": "centrosomal protein 41",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cep41"
      },
      {
        "slug": "col10a1",
        "symbol": "COL10A1",
        "hgnc": "HGNC:2185",
        "name": "collagen type X alpha 1 chain",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col10a1"
      },
      {
        "slug": "dact1",
        "symbol": "DACT1",
        "hgnc": "HGNC:17748",
        "name": "dishevelled binding antagonist of beta catenin 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dact1"
      },
      {
        "slug": "foxf1",
        "symbol": "FOXF1",
        "hgnc": "HGNC:3809",
        "name": "forkhead box F1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/foxf1"
      },
      {
        "slug": "inpp5e",
        "symbol": "INPP5E",
        "hgnc": "HGNC:21474",
        "name": "inositol polyphosphate-5-phosphatase E",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/inpp5e"
      },
      {
        "slug": "mbtps2",
        "symbol": "MBTPS2",
        "hgnc": "HGNC:15455",
        "name": "membrane bound transcription factor peptidase, site 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mbtps2"
      },
      {
        "slug": "mks1",
        "symbol": "MKS1",
        "hgnc": "HGNC:7121",
        "name": "MKS transition zone complex subunit 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mks1"
      },
      {
        "slug": "nek9",
        "symbol": "NEK9",
        "hgnc": "HGNC:18591",
        "name": "NIMA related kinase 9",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nek9"
      },
      {
        "slug": "por",
        "symbol": "POR",
        "hgnc": "HGNC:9208",
        "name": "cytochrome p450 oxidoreductase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/por"
      },
      {
        "slug": "ptch2",
        "symbol": "PTCH2",
        "hgnc": "HGNC:9586",
        "name": "patched 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ptch2"
      },
      {
        "slug": "sall1",
        "symbol": "SALL1",
        "hgnc": "HGNC:10524",
        "name": "spalt like transcription factor 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sall1"
      },
      {
        "slug": "sh2b1",
        "symbol": "SH2B1",
        "hgnc": "HGNC:30417",
        "name": "SH2B adaptor protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sh2b1"
      },
      {
        "slug": "sox2",
        "symbol": "SOX2",
        "hgnc": "HGNC:11195",
        "name": "SRY-box transcription factor 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sox2"
      },
      {
        "slug": "sufu",
        "symbol": "SUFU",
        "hgnc": "HGNC:16466",
        "name": "SUFU negative regulator of hedgehog signaling",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sufu"
      },
      {
        "slug": "apc2",
        "symbol": "APC2",
        "hgnc": "HGNC:24036",
        "name": "APC regulator of Wnt signaling pathway 2",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/apc2"
      },
      {
        "slug": "kif7",
        "symbol": "KIF7",
        "hgnc": "HGNC:30497",
        "name": "kinesin family member 7",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kif7"
      },
      {
        "slug": "nsd1",
        "symbol": "NSD1",
        "hgnc": "HGNC:14234",
        "name": "nuclear receptor binding SET domain protein 1",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nsd1"
      },
      {
        "slug": "colec11",
        "symbol": "COLEC11",
        "hgnc": "HGNC:17213",
        "name": "collectin subfamily member 11",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/colec11"
      },
      {
        "slug": "fancb",
        "symbol": "FANCB",
        "hgnc": "HGNC:3583",
        "name": "FA complementation group B",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fancb"
      },
      {
        "slug": "kdm1a",
        "symbol": "KDM1A",
        "hgnc": "HGNC:29079",
        "name": "lysine demethylase 1A",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kdm1a"
      },
      {
        "slug": "ppp1r15b",
        "symbol": "PPP1R15B",
        "hgnc": "HGNC:14951",
        "name": "protein phosphatase 1 regulatory subunit 15B",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ppp1r15b"
      },
      {
        "slug": "recql4",
        "symbol": "RECQL4",
        "hgnc": "HGNC:9949",
        "name": "RecQ like helicase 4",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/recql4"
      },
      {
        "slug": "zic3",
        "symbol": "ZIC3",
        "hgnc": "HGNC:12874",
        "name": "Zic family zinc finger 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zic3"
      }
    ]
  }
}