{
  "url": "https://dantelabs.com/tr/genes/comp",
  "gene": {
    "slug": "comp",
    "symbol": "COMP",
    "name": "cartilage oligomeric matrix protein",
    "hgnc": "HGNC:2227",
    "summary": null,
    "location": "19p13.11",
    "locusType": "gene with protein product",
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      "MED",
      "THBS5",
      "TSP5",
      "TSP-5"
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      "PSACH",
      "EDM1",
      "EPD1"
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      "P49747"
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      "refseqTranscript": "NM_000095.3",
      "ensemblProtein": "ENSP00000222271.2",
      "refseqProtein": "NP_000086.2",
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    },
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      "build": "GRCh37",
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      "strand": "-"
    },
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        {
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        {
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        {
          "symbol": "REX1BD",
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        {
          "symbol": "TMEM59L",
          "ensemblId": "ENSG00000105696",
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        {
          "symbol": "KLHL26",
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        {
          "symbol": "CRTC1",
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        {
          "symbol": "UPF1",
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        {
          "symbol": "GDF1",
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        {
          "symbol": "CERS1",
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        {
          "symbol": "COPE",
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          "slug": "cope"
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        {
          "symbol": "",
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        {
          "symbol": "DDX49",
          "ensemblId": "ENSG00000105671",
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        {
          "symbol": "HOMER3",
          "ensemblId": "ENSG00000051128",
          "biotype": "protein_coding",
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          "slug": "homer3"
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        {
          "symbol": "SUGP2",
          "ensemblId": "ENSG00000064607",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "sugp2"
        },
        {
          "symbol": "ARMC6",
          "ensemblId": "ENSG00000105676",
          "biotype": "protein_coding",
          "start": 19033575,
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          "strand": "+",
          "slug": "armc6"
        },
        {
          "symbol": "SLC25A42",
          "ensemblId": "ENSG00000181035",
          "biotype": "protein_coding",
          "start": 19061697,
          "end": 19113030,
          "strand": "+",
          "slug": "slc25a42"
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        {
          "symbol": "TMEM161A",
          "ensemblId": "ENSG00000064545",
          "biotype": "protein_coding",
          "start": 19119148,
          "end": 19138513,
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          "slug": "tmem161a"
        },
        {
          "symbol": "MEF2B",
          "ensemblId": "ENSG00000213999",
          "biotype": "protein_coding",
          "start": 19145563,
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          "strand": "-",
          "slug": "mef2b"
        },
        {
          "symbol": "BORCS8-MEF2B",
          "ensemblId": "ENSG00000064489",
          "biotype": "protein_coding",
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          "end": 19192158,
          "strand": "-",
          "slug": "borcs8-mef2b"
        },
        {
          "symbol": "BORCS8",
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          "biotype": "protein_coding",
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          "end": 19192591,
          "strand": "-",
          "slug": "borcs8"
        },
        {
          "symbol": "RFXANK",
          "ensemblId": "ENSG00000064490",
          "biotype": "protein_coding",
          "start": 19191957,
          "end": 19202844,
          "strand": "+",
          "slug": "rfxank"
        },
        {
          "symbol": "NR2C2AP",
          "ensemblId": "ENSG00000184162",
          "biotype": "protein_coding",
          "start": 19201409,
          "end": 19203729,
          "strand": "-",
          "slug": "nr2c2ap"
        },
        {
          "symbol": "NCAN",
          "ensemblId": "ENSG00000130287",
          "biotype": "protein_coding",
          "start": 19211948,
          "end": 19252247,
          "strand": "+",
          "slug": "ncan"
        },
        {
          "symbol": "HAPLN4",
          "ensemblId": "ENSG00000187664",
          "biotype": "protein_coding",
          "start": 19254731,
          "end": 19262827,
          "strand": "-",
          "slug": "hapln4"
        },
        {
          "symbol": "TM6SF2",
          "ensemblId": "ENSG00000213996",
          "biotype": "protein_coding",
          "start": 19263385,
          "end": 19273406,
          "strand": "-",
          "slug": "tm6sf2"
        },
        {
          "symbol": "SUGP1",
          "ensemblId": "ENSG00000105705",
          "biotype": "protein_coding",
          "start": 19276018,
          "end": 19320511,
          "strand": "-",
          "slug": "sugp1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "epiphyseal-and-spondyloepiphyseal-dysplasias",
        "name": "Epifiz ve Spondiloepifiz Displazileri",
        "diseases": [
          {
            "mondoId": "MONDO:0100593",
            "name": "COMP ile ilişkili iskelet displazisi (psödoakondroplazi ve multipl epifiz displazisi)",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "COMP varyantlarının neden olduğu iskelet displazileri; belirgin kısa boyluluk gösteren psödoakondroplazidan daha hafif seyirli multipl epifiz displazisine kadar değişir.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0016648",
            "name": "Multipl epifiz displazisi",
            "genes": 6,
            "inheritance": null,
            "description": "COMP, MATN3, COL9A1, COL9A2, COL9A3 ve SLC26A2 gibi genlerin neden olduğu, uzun kemiklerin uç kısımlarını etkileyen; eklem ağrısı, sertlik ve erken osteoartrite yol açan hastalıklar grubu.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/epiphyseal-and-spondyloepiphyseal-dysplasias"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "epiphyseal-dysplasia",
        "name": "Abnormal development of end part of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/epiphyseal-dysplasia"
      },
      {
        "slug": "hip-dysplasia",
        "name": "Abnormal formation of the hip",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hip-dysplasia"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-ossification-involving-the-femoral-head-and-neck",
        "name": "Abnormal maturation of thigh bone head and neck",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-ossification-involving-the-femoral-head-and-neck"
      },
      {
        "slug": "abnormal-vertebral-body-morphology",
        "name": "Abnormal vertebral body morphology",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-vertebral-body-morphology"
      },
      {
        "slug": "abnormal-acetabulum-morphology",
        "name": "Abnormality of the hipbone socket",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-acetabulum-morphology"
      },
      {
        "slug": "abnormal-femoral-epiphysis-morphology",
        "name": "Abnormality of thighbone end part",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-femoral-epiphysis-morphology"
      },
      {
        "slug": "acetabular-dysplasia",
        "name": "Acetabular dysplasia",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/acetabular-dysplasia"
      },
      {
        "slug": "ankle-hypermobility",
        "name": "Ankle hypermobility",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ankle-hypermobility"
      },
      {
        "slug": "ankle-pain",
        "name": "Ankle pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ankle-pain"
      },
      {
        "slug": "atlantoaxial-dislocation",
        "name": "Atlantoaxial dislocation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/atlantoaxial-dislocation"
      },
      {
        "slug": "avascular-necrosis-of-the-capital-femoral-epiphysis",
        "name": "Avascular necrosis of the capital femoral epiphysis",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/avascular-necrosis-of-the-capital-femoral-epiphysis"
      },
      {
        "slug": "genu-recurvatum",
        "name": "Back knee",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/genu-recurvatum"
      },
      {
        "slug": "beaking-of-vertebral-bodies",
        "name": "Beaking of vertebral bodies",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/beaking-of-vertebral-bodies"
      },
      {
        "slug": "broad-femoral-neck",
        "name": "Broad femoral neck",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/broad-femoral-neck"
      },
      {
        "slug": "metaphyseal-widening",
        "name": "Broad wide portion of long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/metaphyseal-widening"
      },
      {
        "slug": "cervical-cord-compression",
        "name": "Cervical cord compression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cervical-cord-compression"
      },
      {
        "slug": "cervical-spine-instability",
        "name": "Cervical spine instability",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cervical-spine-instability"
      },
      {
        "slug": "childhood-onset-short-limb-short-stature",
        "name": "Childhood onset short-limb short stature",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/childhood-onset-short-limb-short-stature"
      },
      {
        "slug": "cone-shaped-epiphysis",
        "name": "Cone-shaped end part of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cone-shaped-epiphysis"
      },
      {
        "slug": "constrictive-median-neuropathy",
        "name": "Constrictive median neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/constrictive-median-neuropathy"
      },
      {
        "slug": "coxa-vara",
        "name": "Coxa vara",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/coxa-vara"
      },
      {
        "slug": "sensory-neuropathy",
        "name": "Damage to nerves that sense feeling",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/sensory-neuropathy"
      },
      {
        "slug": "osteoarthritis",
        "name": "Degenerative joint disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteoarthritis"
      },
      {
        "slug": "delayed-epiphyseal-ossification",
        "name": "Delayed maturation of end part of long bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-epiphyseal-ossification"
      },
      {
        "slug": "disproportionate-short-stature",
        "name": "Disproportionate short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/disproportionate-short-stature"
      },
      {
        "slug": "disproportionate-short-limb-short-stature",
        "name": "Disproportionate short-limb short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/disproportionate-short-limb-short-stature"
      },
      {
        "slug": "distal-joint-hypermobility",
        "name": "Distal joint hypermobility",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-joint-hypermobility"
      },
      {
        "slug": "joint-hypermobility",
        "name": "Double-Jointed",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/joint-hypermobility"
      },
      {
        "slug": "pes-planus",
        "name": "Dropped arches",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pes-planus"
      },
      {
        "slug": "lumbar-hyperlordosis",
        "name": "Excessive inward curvature of lower spine",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lumbar-hyperlordosis"
      },
      {
        "slug": "flared-femoral-metaphysis",
        "name": "Flared femoral metaphysis",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/flared-femoral-metaphysis"
      },
      {
        "slug": "flared-metaphysis",
        "name": "Flared wide portion of long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/flared-metaphysis"
      },
      {
        "slug": "flat-acetabular-roof",
        "name": "Flat acetabular roof",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/flat-acetabular-roof"
      },
      {
        "slug": "platyspondyly",
        "name": "Flattened vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/platyspondyly"
      },
      {
        "slug": "fragmented-epiphyses",
        "name": "Fragmented end part of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/fragmented-epiphyses"
      },
      {
        "slug": "fragmented-irregular-epiphyses",
        "name": "Fragmented, irregular end part of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/fragmented-irregular-epiphyses"
      },
      {
        "slug": "hand-pain",
        "name": "Hand pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hand-pain"
      },
      {
        "slug": "hand-paresthesia",
        "name": "Hand tingling",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hand-paresthesia"
      },
      {
        "slug": "arthralgia-of-the-hip",
        "name": "Hip joint pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/arthralgia-of-the-hip"
      },
      {
        "slug": "hip-osteoarthritis",
        "name": "Hip osteoarthritis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hip-osteoarthritis"
      },
      {
        "slug": "kyphosis",
        "name": "Hunched back",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/kyphosis"
      },
      {
        "slug": "generalized-joint-hypermobility",
        "name": "Hypermobility of all joints",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-joint-hypermobility"
      },
      {
        "slug": "hypoplasia-of-the-odontoid-process",
        "name": "Hypoplasia of the odontoid process",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-odontoid-process"
      },
      {
        "slug": "hypoplastic-pelvis",
        "name": "Hypoplastic pelvis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplastic-pelvis"
      },
      {
        "slug": "increased-laxity-of-fingers",
        "name": "Increased laxity of fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-laxity-of-fingers"
      },
      {
        "slug": "finger-joint-hypermobility",
        "name": "Increased mobility in finger joint",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/finger-joint-hypermobility"
      },
      {
        "slug": "irregular-acetabular-roof",
        "name": "Irregular acetabular roof",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/irregular-acetabular-roof"
      },
      {
        "slug": "irregular-epiphyses",
        "name": "Irregular end part of long bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/irregular-epiphyses"
      },
      {
        "slug": "irregular-vertebral-endplates",
        "name": "Irregular vertebral endplates",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/irregular-vertebral-endplates"
      },
      {
        "slug": "metaphyseal-irregularity",
        "name": "Irregular wide portion of a long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/metaphyseal-irregularity"
      },
      {
        "slug": "irregular-carpal-bones",
        "name": "Irregular wrist bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/irregular-carpal-bones"
      },
      {
        "slug": "arthralgia",
        "name": "Joint pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/arthralgia"
      },
      {
        "slug": "joint-stiffness",
        "name": "Joint stiffness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/joint-stiffness"
      },
      {
        "slug": "knee-joint-hypermobility",
        "name": "Knee joint over-flexibility",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/knee-joint-hypermobility"
      },
      {
        "slug": "knee-pain",
        "name": "Knee pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/knee-pain"
      },
      {
        "slug": "genu-valgum",
        "name": "Knock knees",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/genu-valgum"
      },
      {
        "slug": "limb-undergrowth",
        "name": "Limb undergrowth",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limb-undergrowth"
      },
      {
        "slug": "limitation-of-joint-mobility",
        "name": "Limitation of joint mobility",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/limitation-of-joint-mobility"
      },
      {
        "slug": "limited-elbow-extension",
        "name": "Limited elbow extension",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limited-elbow-extension"
      },
      {
        "slug": "limited-hip-extension",
        "name": "Limited hip extension",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/limited-hip-extension"
      },
      {
        "slug": "limited-hip-movement",
        "name": "Limited hip movement",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/limited-hip-movement"
      },
      {
        "slug": "limited-shoulder-movement",
        "name": "Limited shoulder movement",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limited-shoulder-movement"
      },
      {
        "slug": "mild-short-stature",
        "name": "Mild short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/mild-short-stature"
      },
      {
        "slug": "genu-varum",
        "name": "Outward bow-leggedness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/genu-varum"
      },
      {
        "slug": "ovoid-vertebral-bodies",
        "name": "Ovoid vertebral bodies",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/ovoid-vertebral-bodies"
      },
      {
        "slug": "positive-carpal-tinel-sign",
        "name": "Positive carpal Tinel sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/positive-carpal-tinel-sign"
      },
      {
        "slug": "positive-phalen-test",
        "name": "Positive Phalen test",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/positive-phalen-test"
      },
      {
        "slug": "postexertional-symptom-exacerbation",
        "name": "Postexertional symptom exacerbation",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/postexertional-symptom-exacerbation"
      },
      {
        "slug": "radial-metaphyseal-irregularity",
        "name": "Radial metaphyseal irregularity",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/radial-metaphyseal-irregularity"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "severe-short-stature",
        "name": "Severe short stature",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/severe-short-stature"
      },
      {
        "slug": "short-phalanx-of-finger",
        "name": "Short finger bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-phalanx-of-finger"
      },
      {
        "slug": "brachydactyly",
        "name": "Short fingers or toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/brachydactyly"
      },
      {
        "slug": "short-long-bone",
        "name": "Short long bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-long-bone"
      },
      {
        "slug": "short-femoral-neck",
        "name": "Short neck of thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-femoral-neck"
      },
      {
        "slug": "short-distal-phalanx-of-finger",
        "name": "Short outermost finger bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-distal-phalanx-of-finger"
      },
      {
        "slug": "short-metacarpal",
        "name": "Shortened long bone of hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-metacarpal"
      },
      {
        "slug": "shortening-of-all-metacarpals",
        "name": "Shortening of all metacarpals",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/shortening-of-all-metacarpals"
      },
      {
        "slug": "skeletal-myopathy",
        "name": "Skeletal myopathy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/skeletal-myopathy"
      },
      {
        "slug": "carpal-bone-hypoplasia",
        "name": "Small carpal bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/carpal-bone-hypoplasia"
      },
      {
        "slug": "small-epiphyses",
        "name": "Small end part of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/small-epiphyses"
      },
      {
        "slug": "small-epiphyses-of-the-phalanges-of-the-hand",
        "name": "Small end part of finger bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/small-epiphyses-of-the-phalanges-of-the-hand"
      },
      {
        "slug": "hypoplasia-of-the-capital-femoral-epiphysis",
        "name": "Small innermost thighbone end part",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-capital-femoral-epiphysis"
      },
      {
        "slug": "spatulate-ribs",
        "name": "Spatulate ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/spatulate-ribs"
      },
      {
        "slug": "thenar-muscle-atrophy",
        "name": "Thenar muscle atrophy",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thenar-muscle-atrophy"
      },
      {
        "slug": "ulnar-deviation-of-the-hand",
        "name": "Ulnar deviation of the hand",
        "systems": [
          "abnormality-of-limbs"
        ],
        "url": "https://dantelabs.com/traits/ulnar-deviation-of-the-hand"
      },
      {
        "slug": "ulnar-deviation-of-the-wrist",
        "name": "Ulnar deviation of the wrist",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/ulnar-deviation-of-the-wrist"
      },
      {
        "slug": "ulnar-metaphyseal-irregularity",
        "name": "Ulnar metaphyseal irregularity",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/ulnar-metaphyseal-irregularity"
      },
      {
        "slug": "waddling-gait",
        "name": "Waddling gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/waddling-gait"
      },
      {
        "slug": "wind-swept-deformity-of-the-knees",
        "name": "Wind-swept deformity of the knees",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/wind-swept-deformity-of-the-knees"
      }
    ],
    "related": [
      {
        "slug": "col9a1",
        "symbol": "COL9A1",
        "name": "collagen type IX alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/col9a1"
      },
      {
        "slug": "col9a2",
        "symbol": "COL9A2",
        "name": "collagen type IX alpha 2 chain",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/col9a2"
      },
      {
        "slug": "col9a3",
        "symbol": "COL9A3",
        "name": "collagen type IX alpha 3 chain",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/col9a3"
      },
      {
        "slug": "matn3",
        "symbol": "MATN3",
        "name": "matrilin 3",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/matn3"
      },
      {
        "slug": "slc26a2",
        "symbol": "SLC26A2",
        "name": "solute carrier family 26 member 2",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/slc26a2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}