{
  "url": "https://dantelabs.com/traits/coxa-vara",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "coxa-vara",
    "id": "HP:0002812",
    "name": "Coxa vara",
    "definition": "Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.",
    "synonyms": [],
    "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": "abnormal-femoral-neck-morphology",
        "name": "Abnormal neck of thigh bone",
        "url": "https://dantelabs.com/traits/abnormal-femoral-neck-morphology"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "col10a1",
        "symbol": "COL10A1",
        "hgnc": "HGNC:2185",
        "name": "collagen type X alpha 1 chain",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/col10a1"
      },
      {
        "slug": "crtap",
        "symbol": "CRTAP",
        "hgnc": "HGNC:2379",
        "name": "cartilage associated protein",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/crtap"
      },
      {
        "slug": "ndc1",
        "symbol": "NDC1",
        "hgnc": "HGNC:25525",
        "name": "NDC1 transmembrane nucleoporin",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndc1"
      },
      {
        "slug": "nkx3-2",
        "symbol": "NKX3-2",
        "hgnc": "HGNC:951",
        "name": "NK3 homeobox 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nkx3-2"
      },
      {
        "slug": "rpl13",
        "symbol": "RPL13",
        "hgnc": "HGNC:10303",
        "name": "ribosomal protein L13",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rpl13"
      },
      {
        "slug": "atp6v0a2",
        "symbol": "ATP6V0A2",
        "hgnc": "HGNC:18481",
        "name": "ATPase H+ transporting V0 subunit a2",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/atp6v0a2"
      },
      {
        "slug": "col2a1",
        "symbol": "COL2A1",
        "hgnc": "HGNC:2200",
        "name": "collagen type II alpha 1 chain",
        "frequency": "very-frequent",
        "diseases": 8,
        "url": "https://dantelabs.com/genes/col2a1"
      },
      {
        "slug": "dmp1",
        "symbol": "DMP1",
        "hgnc": "HGNC:2932",
        "name": "dentin matrix acidic phosphoprotein 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dmp1"
      },
      {
        "slug": "enpp1",
        "symbol": "ENPP1",
        "hgnc": "HGNC:3356",
        "name": "ectonucleotide pyrophosphatase/phosphodiesterase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/enpp1"
      },
      {
        "slug": "fn1",
        "symbol": "FN1",
        "hgnc": "HGNC:3778",
        "name": "fibronectin 1",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/fn1"
      },
      {
        "slug": "ihh",
        "symbol": "IHH",
        "hgnc": "HGNC:5956",
        "name": "Indian hedgehog signaling molecule",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ihh"
      },
      {
        "slug": "pcnt",
        "symbol": "PCNT",
        "hgnc": "HGNC:16068",
        "name": "pericentrin",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pcnt"
      },
      {
        "slug": "pcyt1a",
        "symbol": "PCYT1A",
        "hgnc": "HGNC:8754",
        "name": "phosphate cytidylyltransferase 1A, choline",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pcyt1a"
      },
      {
        "slug": "prg4",
        "symbol": "PRG4",
        "hgnc": "HGNC:9364",
        "name": "proteoglycan 4",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/prg4"
      },
      {
        "slug": "cant1",
        "symbol": "CANT1",
        "hgnc": "HGNC:19721",
        "name": "calcium activated nucleotidase 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cant1"
      },
      {
        "slug": "col27a1",
        "symbol": "COL27A1",
        "hgnc": "HGNC:22986",
        "name": "collagen type XXVII alpha 1 chain",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col27a1"
      },
      {
        "slug": "col9a1",
        "symbol": "COL9A1",
        "hgnc": "HGNC:2217",
        "name": "collagen type IX alpha 1 chain",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/col9a1"
      },
      {
        "slug": "csgalnact1",
        "symbol": "CSGALNACT1",
        "hgnc": "HGNC:24290",
        "name": "chondroitin sulfate N-acetylgalactosaminyltransferase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/csgalnact1"
      },
      {
        "slug": "extl3",
        "symbol": "EXTL3",
        "hgnc": "HGNC:3518",
        "name": "exostosin like glycosyltransferase 3",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/extl3"
      },
      {
        "slug": "hspg2",
        "symbol": "HSPG2",
        "hgnc": "HGNC:5273",
        "name": "heparan sulfate proteoglycan 2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/hspg2"
      },
      {
        "slug": "nfix",
        "symbol": "NFIX",
        "hgnc": "HGNC:7788",
        "name": "nuclear factor I X",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nfix"
      },
      {
        "slug": "pex5",
        "symbol": "PEX5",
        "hgnc": "HGNC:9719",
        "name": "peroxisomal biogenesis factor 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex5"
      },
      {
        "slug": "rad21",
        "symbol": "RAD21",
        "hgnc": "HGNC:9811",
        "name": "RAD21 cohesin complex component",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rad21"
      },
      {
        "slug": "rmrp",
        "symbol": "RMRP",
        "hgnc": "HGNC:10031",
        "name": "RNA component of mitochondrial RNA processing endoribonuclease",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rmrp"
      },
      {
        "slug": "rnu4atac",
        "symbol": "RNU4ATAC",
        "hgnc": "HGNC:34016",
        "name": "RNA, U4atac small nuclear",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu4atac"
      },
      {
        "slug": "rspry1",
        "symbol": "RSPRY1",
        "hgnc": "HGNC:29420",
        "name": "ring finger and SPRY domain containing 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rspry1"
      },
      {
        "slug": "runx2",
        "symbol": "RUNX2",
        "hgnc": "HGNC:10472",
        "name": "RUNX family transcription factor 2",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/runx2"
      },
      {
        "slug": "slc26a2",
        "symbol": "SLC26A2",
        "hgnc": "HGNC:10994",
        "name": "solute carrier family 26 member 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc26a2"
      },
      {
        "slug": "trpv4",
        "symbol": "TRPV4",
        "hgnc": "HGNC:18083",
        "name": "transient receptor potential cation channel subfamily V member 4",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/trpv4"
      },
      {
        "slug": "xylt1",
        "symbol": "XYLT1",
        "hgnc": "HGNC:15516",
        "name": "xylosyltransferase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/xylt1"
      },
      {
        "slug": "atp7a",
        "symbol": "ATP7A",
        "hgnc": "HGNC:869",
        "name": "ATPase copper transporting alpha",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp7a"
      },
      {
        "slug": "ccn6",
        "symbol": "CCN6",
        "hgnc": "HGNC:12771",
        "name": "cellular communication network factor 6",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ccn6"
      },
      {
        "slug": "col9a2",
        "symbol": "COL9A2",
        "hgnc": "HGNC:2218",
        "name": "collagen type IX alpha 2 chain",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col9a2"
      },
      {
        "slug": "col9a3",
        "symbol": "COL9A3",
        "hgnc": "HGNC:2219",
        "name": "collagen type IX alpha 3 chain",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col9a3"
      },
      {
        "slug": "dvl1",
        "symbol": "DVL1",
        "hgnc": "HGNC:3084",
        "name": "dishevelled segment polarity protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dvl1"
      },
      {
        "slug": "dvl3",
        "symbol": "DVL3",
        "hgnc": "HGNC:3087",
        "name": "dishevelled segment polarity protein 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dvl3"
      },
      {
        "slug": "dym",
        "symbol": "DYM",
        "hgnc": "HGNC:21317",
        "name": "dymeclin",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dym"
      },
      {
        "slug": "fkbp10",
        "symbol": "FKBP10",
        "hgnc": "HGNC:18169",
        "name": "FKBP prolyl isomerase 10",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/fkbp10"
      },
      {
        "slug": "fzd2",
        "symbol": "FZD2",
        "hgnc": "HGNC:4040",
        "name": "frizzled class receptor 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fzd2"
      },
      {
        "slug": "kdelr2",
        "symbol": "KDELR2",
        "hgnc": "HGNC:6305",
        "name": "KDEL endoplasmic reticulum protein retention receptor 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kdelr2"
      },
      {
        "slug": "matn3",
        "symbol": "MATN3",
        "hgnc": "HGNC:6909",
        "name": "matrilin 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/matn3"
      },
      {
        "slug": "megf8",
        "symbol": "MEGF8",
        "hgnc": "HGNC:3233",
        "name": "multiple EGF like domains 8",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/megf8"
      },
      {
        "slug": "slc2a10",
        "symbol": "SLC2A10",
        "hgnc": "HGNC:13444",
        "name": "solute carrier family 2 member 10",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc2a10"
      },
      {
        "slug": "slc4a10",
        "symbol": "SLC4A10",
        "hgnc": "HGNC:13811",
        "name": "solute carrier family 4 member 10",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc4a10"
      },
      {
        "slug": "tonsl",
        "symbol": "TONSL",
        "hgnc": "HGNC:7801",
        "name": "tonsoku like, DNA repair protein",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tonsl"
      },
      {
        "slug": "trappc2",
        "symbol": "TRAPPC2",
        "hgnc": "HGNC:23068",
        "name": "trafficking protein particle complex subunit 2",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/trappc2"
      },
      {
        "slug": "tti1",
        "symbol": "TTI1",
        "hgnc": "HGNC:29029",
        "name": "TELO2 interacting protein 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tti1"
      },
      {
        "slug": "ufsp2",
        "symbol": "UFSP2",
        "hgnc": "HGNC:25640",
        "name": "UFM1 specific peptidase 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ufsp2"
      },
      {
        "slug": "wnt5a",
        "symbol": "WNT5A",
        "hgnc": "HGNC:12784",
        "name": "Wnt family member 5A",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wnt5a"
      },
      {
        "slug": "comp",
        "symbol": "COMP",
        "hgnc": "HGNC:2227",
        "name": "cartilage oligomeric matrix protein",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/comp"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "hgnc": "HGNC:8768",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aifm1"
      },
      {
        "slug": "cfap410",
        "symbol": "CFAP410",
        "hgnc": "HGNC:1260",
        "name": "cilia and flagella associated protein 410",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cfap410"
      },
      {
        "slug": "ddrgk1",
        "symbol": "DDRGK1",
        "hgnc": "HGNC:16110",
        "name": "DDRGK domain containing 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ddrgk1"
      },
      {
        "slug": "dnajc21",
        "symbol": "DNAJC21",
        "hgnc": "HGNC:27030",
        "name": "DnaJ heat shock protein family (Hsp40) member C21",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnajc21"
      },
      {
        "slug": "ext1",
        "symbol": "EXT1",
        "hgnc": "HGNC:3512",
        "name": "exostosin glycosyltransferase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ext1"
      },
      {
        "slug": "ext2",
        "symbol": "EXT2",
        "hgnc": "HGNC:3513",
        "name": "exostosin glycosyltransferase 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ext2"
      },
      {
        "slug": "flnb",
        "symbol": "FLNB",
        "hgnc": "HGNC:3755",
        "name": "filamin B",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/flnb"
      },
      {
        "slug": "mmp13",
        "symbol": "MMP13",
        "hgnc": "HGNC:7159",
        "name": "matrix metallopeptidase 13",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mmp13"
      },
      {
        "slug": "orc6",
        "symbol": "ORC6",
        "hgnc": "HGNC:17151",
        "name": "origin recognition complex subunit 6",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/orc6"
      },
      {
        "slug": "pop1",
        "symbol": "POP1",
        "hgnc": "HGNC:30129",
        "name": "POP1 ribonuclease P/MRP subunit",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pop1"
      },
      {
        "slug": "sbds",
        "symbol": "SBDS",
        "hgnc": "HGNC:19440",
        "name": "SBDS ribosome maturation factor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sbds"
      },
      {
        "slug": "serpinf1",
        "symbol": "SERPINF1",
        "hgnc": "HGNC:8824",
        "name": "serpin family F member 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/serpinf1"
      },
      {
        "slug": "srp54",
        "symbol": "SRP54",
        "hgnc": "HGNC:11301",
        "name": "signal recognition particle 54",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/srp54"
      },
      {
        "slug": "tbx4",
        "symbol": "TBX4",
        "hgnc": "HGNC:11603",
        "name": "T-box transcription factor 4",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbx4"
      },
      {
        "slug": "tcirg1",
        "symbol": "TCIRG1",
        "hgnc": "HGNC:11647",
        "name": "T cell immune regulator 1, ATPase H+ transporting V0 subunit a3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tcirg1"
      }
    ]
  }
}